FN Thomson Reuters Web of Science™
VR 1.0
PT J
AU Schmitt, LM
Cook, EH
Sweeney, JA
Mosconi, MW
AF Schmitt, Lauren M.
Cook, Edwin H.
Sweeney, John A.
Mosconi, Matthew W.
TI Saccadic eye movement abnormalities in autism spectrum disorder indicate
dysfunctions in cerebellum and brainstem
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism spectrum disorder (ASD); Sensorimotor; Eye movement; Saccade;
Cerebellum; Brainstem
ID DIAGNOSTIC OBSERVATION SCHEDULE; CAUDAL FASTIGIAL NUCLEUS;
HIGH-FUNCTIONING AUTISM; BURST NEURONS; SUPERIOR COLLICULUS; OCULOMOTOR
REGION; REPETITIVE BEHAVIOR; INFANTILE-AUTISM; VISUAL-ATTENTION; MACAQUE
MONKEYS
AB Background: Individuals with autism spectrum disorder (ASD) show atypical scan paths during social interaction and when viewing faces, and recent evidence suggests that they also show abnormal saccadic eye movement dynamics and accuracy when viewing less complex and non-social stimuli. Eye movements are a uniquely promising target for studies of ASD as their spatial and temporal characteristics can be measured precisely and the brain circuits supporting them are well-defined. Control of saccade metrics is supported by discrete circuits within the cerebellum and brainstem two brain regions implicated in magnetic resonance (MR) morphometry and histopathological studies of ASD. The functional integrity of these distinct brain systems can be examined by evaluating different parameters of visually-guided saccades.
Methods: A total of 65 participants with ASD and 43 healthy controls, matched on age (between 6 and 44-years-old), gender and nonverbal IQ made saccades to peripheral targets. To examine the influence of attentional processes, blocked gap and overlap trials were presented. We examined saccade latency, accuracy and dynamics, as well as the trial-to-trial variability of participants' performance.
Results: Saccades of individuals with ASD were characterized by reduced accuracy, elevated variability in accuracy across trials, and reduced peak velocity and prolonged duration. In addition, their saccades took longer to accelerate to peak velocity, with no alteration in the duration of saccade deceleration. Gap/overlap effects on saccade latencies were similar across groups, suggesting that visual orienting and attention systems are relatively spared in ASD. Age-related changes did not differ across groups.
Conclusions: Deficits precisely and consistently directing eye movements suggest impairment in the error-reducing function of the cerebellum in ASD. Atypical increases in the duration of movement acceleration combined with lower peak saccade velocities implicate pontine nuclei, specifically suggesting reduced excitatory activity in burst cells that drive saccades relative to inhibitory activity in omnipause cells that maintain stable fixation. Thus, our findings suggest that both cerebellar and brainstem abnormalities contribute to altered sensorimotor control in ASD.
C1 [Schmitt, Lauren M.; Sweeney, John A.; Mosconi, Matthew W.] Univ Texas Southwestern, Ctr Autism & Dev Disabil, Dallas, TX 75390 USA.
[Cook, Edwin H.] Univ Illinois, Dept Psychiat, Chicago, IL 60608 USA.
[Sweeney, John A.] Bond Univ, Ctr Autism Spectrum Disorders, Gold Coast, Qld 4229, Australia.
[Mosconi, Matthew W.] Univ Texas SW Med Ctr Dallas, Dept Psychiat, Dallas, TX 75390 USA.
[Mosconi, Matthew W.] Univ Texas SW Med Ctr Dallas, Dept Pediat, Dallas, TX 75390 USA.
RP Mosconi, MW (reprint author), Univ Texas Southwestern, Ctr Autism & Dev Disabil, 5323 Harry Hines Blvd, Dallas, TX 75390 USA.
EM Matt.Mosconi@UTSouthwestern.edu
FU NIH Autism Center of Excellence grant [P50HD055751]; NIH K23 Research
Career Development Award [MH092696]; Autism Speaks [4853]
FX This work was supported by NIH Autism Center of Excellence grant
P50HD055751 (EHC, JAS, MWM), NIH K23 Research Career Development Award
MH092696 (MWM) and an Autism Speaks grant 4853 (MWM).
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NR 95
TC 2
Z9 2
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD SEP 16
PY 2014
VL 5
AR 47
DI 10.1186/2040-2392-5-47
PG 13
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AS2JG
UT WOS:000344105400001
PM 25400899
ER
PT J
AU Lukoshe, A
Hokken-Koelega, AC
van der Lugt, A
White, T
AF Lukoshe, Akvile
Hokken-Koelega, Anita C.
van der Lugt, Aad
White, Tonya
TI Reduced Cortical Complexity in Children with Prader-Willi Syndrome and
Its Association with Cognitive Impairment and Developmental Delay
SO PLOS ONE
LA English
DT Article
ID HUMAN CEREBRAL-CORTEX; AUTISM SPECTRUM DISORDERS; MAGNETIC-RESONANCE
IMAGES; GROWTH-HORMONE TREATMENT; MENTAL-RETARDATION; HUMAN BRAIN;
GENETIC SUBTYPES; GYRIFICATION; MRI; SCHIZOPHRENIA
AB Background: Prader-Willi Syndrome (PWS) is a complex neurogenetic disorder with symptoms involving not only hypothalamic, but also a global, central nervous system dysfunction. Previously, qualitative studies reported polymicrogyria in adults with PWS. However, there have been no quantitative neuroimaging studies of cortical morphology in PWS and no studies to date in children with PWS. Thus, our aim was to investigate and quantify cortical complexity in children with PWS compared to healthy controls. In addition, we investigated differences between genetic subtypes of PWS and the relationship between cortical complexity and intelligence within the PWS group.
Methods: High-resolution structural magnetic resonance images were acquired in 24 children with genetically confirmed PWS (12 carrying a deletion (DEL), 12 with maternal uniparental disomy (mUPD)) and 11 age-and sex-matched typically developing siblings as healthy controls. Local gyrification index (lGI) was obtained using the FreeSurfer software suite.
Results: Four large clusters, two in each hemisphere, comprising frontal, parietal and temporal lobes, had lower lGI in children with PWS, compared to healthy controls. Clusters with lower lGI also had significantly lower cortical surface area in children with PWS. No differences in cortical thickness of the clusters were found between the PWS and healthy controls. lGI correlated significantly with cortical surface area, but not with cortical thickness. Within the PWS group, lGI in both hemispheres correlated with Total IQ and Verbal IQ, but not with Performance IQ. Children with mUPD, compared to children with DEL, had two small clusters with lower lGI in the right hemisphere. lGI of these clusters correlated with cortical surface area, but not with cortical thickness or IQ.
Conclusions: These results suggest that lower cortical complexity in children with PWS partially underlies cognitive impairment and developmental delay, probably due to alterations in gene networks that play a prominent role in early brain development.
C1 [Lukoshe, Akvile; Hokken-Koelega, Anita C.] Dutch Growth Res Fdn, Rotterdam, Netherlands.
[Lukoshe, Akvile; Hokken-Koelega, Anita C.] Sophia Childrens Univ Hosp, Erasmus Med Ctr Rotterdam, Dept Pediat, Rotterdam, Netherlands.
[White, Tonya] Sophia Childrens Univ Hosp, Erasmus Med Ctr Rotterdam, Dept Child & Adolescent Psychiat, Rotterdam, Netherlands.
[van der Lugt, Aad; White, Tonya] Erasmus MC, Dept Radiol, Rotterdam, Netherlands.
RP Lukoshe, A (reprint author), Dutch Growth Res Fdn, Rotterdam, Netherlands.
EM a.lukose@kindengroei.nl
FU Foundation for Prader-Willi Research; Dutch Growth Research Foundation
FX This study was financially supported by the Foundation for Prader-Willi
Research and Dutch Growth Research Foundation. The funders had no role
in study design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 60
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 16
PY 2014
VL 9
IS 9
AR e107320
DI 10.1371/journal.pone.0107320
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AS5NP
UT WOS:000344317700043
PM 25226172
ER
PT J
AU Di Napoli, A
Warrier, V
Baron-Cohen, S
Chakrabarti, B
AF Di Napoli, Agnese
Warrier, Varun
Baron-Cohen, Simon
Chakrabarti, Bhismadev
TI Genetic variation in the oxytocin receptor (OXTR) gene is associated
with Asperger Syndrome
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism Spectrum Conditions (ASC); Asperger Syndrome (AS); Oxytocin
receptor (OXTR); Haplotype analysis
ID SINGLE-NUCLEOTIDE POLYMORPHISMS; AUTISTIC TRAITS; SOCIAL-BEHAVIOR;
POPULATION; DISORDER; TWIN; PREVALENCE; EXPRESSION; STABILITY; CHILDREN
AB Background: Autism Spectrum Conditions (ASC) are a group of neurodevelopmental conditions characterized by impairments in communication and social interaction, alongside unusually repetitive behaviors and narrow interests. ASC are highly heritable and have complex patterns of inheritance where multiple genes are involved, alongside environmental and epigenetic factors. Asperger Syndrome (AS) is a subgroup of these conditions, where there is no history of language or cognitive delay. Animal models suggest a role for oxytocin (OXT) and oxytocin receptor (OXTR) genes in social-emotional behaviors, and several studies indicate that the oxytocin/oxytocin receptor system is altered in individuals with ASC. Previous studies have reported associations between genetic variations in the OXTR gene and ASC.
Methods: The present study tested for an association between nine single nucleotide polymorphisms (SNPs) in the OXTR gene and AS in 530 individuals of Caucasian origin, using SNP association test and haplotype analysis.
Results: There was a significant association between rs2268493 in OXTR and AS. Multiple haplotypes that include this SNP (rs2268493-rs2254298, rs2268490-rs2268493-rs2254298, rs2268493-rs2254298-rs53576, rs237885-rs22684 90-rs2268493-rs2254298, rs2268490-rs2268493-rs2254298-rs53576) were also associated with AS. rs2268493 has been previously associated with ASC and putatively alters several transcription factor-binding sites and regulates chromatin states, either directly or through other variants in linkage disequilibrium (LD).
Conclusions: This study reports a significant association of the sequence variant rs2268493 in the OXTR gene and associated haplotypes with AS.
C1 [Di Napoli, Agnese; Warrier, Varun; Baron-Cohen, Simon; Chakrabarti, Bhismadev] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge CB2 8AH, England.
[Baron-Cohen, Simon] Cambridgeshire & Peterborough NHS Fdn Trust, CLASS Clin, Cambridge CB21 5EF, England.
[Chakrabarti, Bhismadev] Univ Reading, Sch Psychol & Clin Language Sci, Ctr Integrat Neurosci & Neurodynam, Reading RG6 6AL, Berks, England.
RP Di Napoli, A (reprint author), Univ Cambridge, Dept Psychiat, Autism Res Ctr, Douglas House,18B Trumpington Rd, Cambridge CB2 8AH, England.
EM agnesedinapoli@outlook.com; sb205@cam.ac.uk
FU Target Autism Genome; Nancy Lurie Marks (NLM) Family Foundation; Autism
Research Trust; Medical Research Council United Kingdom; Wellcome Trust
Sanger Centre; Max Planck Institute for Psycholinguistics; Nehru Trust
for Cambridge University; St John's College Cambridge; Cambridge
Commonwealth Trust
FX This study was funded by project grants to SBC from Target Autism
Genome, the Nancy Lurie Marks (NLM) Family Foundation, the Autism
Research Trust, the Medical Research Council United Kingdom, the
Wellcome Trust Sanger Centre, and the Max Planck Institute for
Psycholinguistics. BC was funded by the Medical Research Council United
Kingdom. VW was funded by the Nehru Trust for Cambridge University, St
John's College Cambridge, and the Cambridge Commonwealth Trust, and this
work was submitted in part fulfilment of the degree of MPhil at
Cambridge University by VW. The study was undertaken in association with
the National Institute of Health Research (NIHR) Collaborations for
Leadership in Applied Health Research and Care (CLAHRC) East of England
(EoE). We are thankful to Robert Plomin, Frank Dudbridge, Lindsey Kent
and Ian Craig for discussions, and to Laura Murphy, Jon Breidbord, Allen
Chan, Sylvia Lakatosova, Sally Wheelwright, Carrie Allison, Uma Mallya,
Alex Politt, and the late Leena Peltonen for support at different stages
of the project. Simon Fisher provided part funding for the project.
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NR 48
TC 2
Z9 2
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD SEP 16
PY 2014
VL 5
AR 48
DI 10.1186/2040-2392-5-48
PG 7
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AS2JH
UT WOS:000344105700001
PM 25264479
ER
PT J
AU Burrage, LC
Nagamani, SCS
Campeau, PM
Lee, BH
AF Burrage, Lindsay C.
Nagamani, Sandesh C. S.
Campeau, Philippe M.
Lee, Brendan H.
TI Branched-chain amino acid metabolism: from rare Mendelian diseases to
more common disorders
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID SYRUP-URINE-DISEASE; ALPHA-KETO-ACIDS; DOMINO LIVER-TRANSPLANTATION;
BRAIN ENERGY-METABOLISM; UREA CYCLE DISORDERS; OXIDATIVE STRESS;
INBORN-ERRORS; RAT-BRAIN; BIOCHEMICAL BASIS; IN-VITRO
AB Branched-chain amino acid (BCAA) metabolism plays a central role in the pathophysiology of both rare inborn errors of metabolism and the more common multifactorial diseases. Although deficiency of the branched-chain ketoacid dehydrogenase(BCKDC) and associated elevations in the BCAAs and their ketoacids have been recognized as the cause of maple syrup urine disease (MSUD) for decades, treatment options for this disorder have been limited to dietary interventions. In recent years, the discovery of improved leucine tolerance after liver transplantation has resulted in a new therapeutic strategy for this disorder. Likewise, targeting the regulation of the BCKDC activity may be an alternative potential treatment strategy for MSUD. The regulation of the BCKDC by the branched-chain ketoacid dehydrogenase kinase has also been implicated in a new inborn error of metabolism characterized by autism, intellectual disability and seizures. Finally, there is a growing body of literature implicating BCAA metabolism in more common disorders such as the metabolic syndrome, cancer and hepatic disease. This review surveys the knowledge acquired on the topic over the past 50 years and focuses on recent developments in the field of BCAA metabolism.
C1 [Burrage, Lindsay C.; Nagamani, Sandesh C. S.; Lee, Brendan H.] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
[Campeau, Philippe M.] Univ Montreal, Dept Pediat, Montreal, PQ H3C 3J7, Canada.
[Lee, Brendan H.] Howard Hughes Med Inst, Houston, TX 77030 USA.
RP Lee, BH (reprint author), Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
EM blee@bcm.edu
FU ACMG Foundation/Genzyme Biochemical Genetics Fellowship; Clinical
Scientist Development Award by the Doris Duke Charitable Foundation;
O'Malley Foundation Research Fellowship; NIH [DK92921]; Baylor College
of Medicine General Clinical Research Center [RR00188]; BCM Intellectual
and Developmental Disabilities Research Center [HD024064]; Eunice
Kennedy Shriver National Institute Of Child Health & Human Development;
Urea Cycle Disorders Research Consortium a part of the National
Institutes of Health (NIH) Rare Diseases Clinical Research Network
(RDCRN) [U54 HD061221]; NIH Office of Rare Diseases Research (ORDR) at
the National Center for Advancing Translational Science (NCATS); NICHD
FX L.C.B. is supported by the ACMG Foundation/Genzyme Biochemical Genetics
Fellowship. S.C.S.N. is supported by the Clinical Scientist Development
Award by the Doris Duke Charitable Foundation. P.M.C. was supported by
the O'Malley Foundation Research Fellowship. This work was supported by
the NIH (DK92921 to B.L.), Baylor College of Medicine General Clinical
Research Center (RR00188), the BCM Intellectual and Developmental
Disabilities Research Center (HD024064) from the Eunice Kennedy Shriver
National Institute Of Child Health & Human Development and the Urea
Cycle Disorders Research Consortium (U54 HD061221, a part of the
National Institutes of Health (NIH) Rare Diseases Clinical Research
Network (RDCRN), supported through collaboration between the NIH Office
of Rare Diseases Research (ORDR) at the National Center for Advancing
Translational Science (NCATS) and the NICHD. The content is solely the
responsibility of the authors and does not necessarily represent the
official views of the National Institutes of Health.
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NR 107
TC 0
Z9 0
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
EI 1460-2083
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD SEP 15
PY 2014
VL 23
SI 1
BP R1
EP R8
DI 10.1093/hmg/ddu123
PG 8
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA CB7RS
UT WOS:000349825700001
PM 24651065
ER
PT J
AU Ambrosini, E
Sicca, F
Brignone, MS
D'Adamo, MC
Napolitano, C
Servettini, I
Moro, F
Ruan, YF
Guglielmi, L
Pieroni, S
Servillo, G
Lanciotti, A
Valvo, G
Catacuzzeno, L
Franciolini, F
Molinari, P
Marchese, M
Grottesi, A
Guerrini, R
Santorelli, FM
Priori, S
Pessia, M
AF Ambrosini, Elena
Sicca, Federico
Brignone, Maria S.
D'Adamo, Maria C.
Napolitano, Carlo
Servettini, Ilenio
Moro, Francesca
Ruan, Yanfei
Guglielmi, Luca
Pieroni, Stefania
Servillo, Giuseppe
Lanciotti, Angela
Valvo, Giulia
Catacuzzeno, Luigi
Franciolini, Fabio
Molinari, Paola
Marchese, Maria
Grottesi, Alessandro
Guerrini, Renzo
Santorelli, Filippo M.
Priori, Silvia
Pessia, Mauro
TI Genetically induced dysfunctions of Kir2.1 channels: implications for
short QT3 syndrome and autism-epilepsy phenotype
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID ANDERSEN-TAWIL-SYNDROME; GAIN-OF-FUNCTION; KCNJ2 MUTATION; POTASSIUM
CHANNELS; MEGALENCEPHALIC LEUKOENCEPHALOPATHY; ATRIAL-FIBRILLATION; K+
CHANNELS; CELLS; BRAIN; CHOLESTEROL
AB Short QT3 syndrome (SQT3S) is a cardiac disorder characterized by a high risk of mortality and associated with mutations in Kir2.1 (KCNJ2) channels. The molecular mechanisms leading to channel dysfunction, cardiac rhythm disturbances and neurodevelopmental disorders, potentially associated with SQT3S, remain incompletely understood. Here, we report on monozygotic twins displaying a short QT interval on electrocardiogram recordings and autism-epilepsy phenotype. Genetic screening identified a novel KCNJ2 variant in Kir2.1 that (i) enhanced the channel's surface expression and stability at the plasma membrane, (ii) reduced protein ubiquitylation and degradation, (iii) altered protein compartmentalization in lipid rafts by targeting more channels to cholesterol-poor domains and (iv) reduced interactions with caveolin 2. Importantly, our study reveals novel physiological mechanisms concerning wild-type Kir2.1 channel processing by the cell, such as binding to both caveolin 1 and 2, protein degradation through the ubiquitin-proteasome pathway; in addition, it uncovers a potential multifunctional site that controls Kir2.1 surface expression, protein half-life and partitioning to lipid rafts. The reported mechanisms emerge as crucial also for proper astrocyte function, suggesting the need for a neuropsychiatric evaluation in patients with SQT3S and offering new opportunities for disease management.
C1 [Ambrosini, Elena; Brignone, Maria S.; Lanciotti, Angela] Ist Super Sanita, Dept Cell Biol & Neurosci, I-00161 Rome, Italy.
[Sicca, Federico; Moro, Francesca; Valvo, Giulia; Guerrini, Renzo] IRCCS Stella Maris Fdn, Clin Neurophysiol Lab, Dept Dev Neurosci, Pisa, Italy.
[Marchese, Maria; Santorelli, Filippo M.] IRCCS Stella Maris Fdn, Mol Med Lab, Pisa, Italy.
[D'Adamo, Maria C.; Servettini, Ilenio; Guglielmi, Luca; Pessia, Mauro] Univ Perugia, Fac Med, Sect Physiol & Biochem, Dept Expt Med, I-06100 Perugia, Italy.
[Pieroni, Stefania; Servillo, Giuseppe] Univ Perugia, Fac Med, Dept Expt Med, I-06100 Perugia, Italy.
[Catacuzzeno, Luigi; Franciolini, Fabio] Univ Perugia, Dept Chem Biol & Biotechnol, I-06100 Perugia, Italy.
[Napolitano, Carlo; Ruan, Yanfei; Priori, Silvia] IRCCS Salvatore Maugeri Fdn, Pavia, Italy.
[Molinari, Paola] Ist Super Sanita, Dept Pharmacol, I-00161 Rome, Italy.
[Grottesi, Alessandro] CASPUR, Computat Med & Biol Grp, Rome, Italy.
[Guerrini, Renzo] Univ Florence, Childrens Hosp A Meyer, Pediat Neurol Unit & Labs, Florence, Italy.
RP Ambrosini, E (reprint author), Ist Super Sanita, Dept Cell Biol & Neurosci, Viale Regina Elena 299, I-00161 Rome, Italy.
EM elena.ambrosini@iss.it
RI Catacuzzeno, Luigi/M-4637-2014
FU Telethon grant [GGP11188]; MIUR-PRIN [20108WT59Y_004]; COMPAGNIA di San
Paolo (Turin) 'Programma Neuroscienze'; Ministero della Salute
[GR-2009-1580433]; Fondazione Cassa di Risparmio di Perugia; Telethon
grants [GGP11141, GGP06007]; Fondation Leducq Award [08CVD01];
Fondazione Veronesi Award on inherited arrhythmogenic diseases
FX This work was supported by Telethon grant (GGP11188), MIUR-PRIN
(20108WT59Y_004), COMPAGNIA di San Paolo (Turin) 'Programma
Neuroscienze', Ministero della Salute (GR-2009-1580433) and Fondazione
Cassa di Risparmio di Perugia, Telethon grants GGP11141 and GGP06007 (to
S. G. P.), Fondation Leducq Award 08CVD01 (to S. G. P.), by Fondazione
Veronesi Award on inherited arrhythmogenic diseases (to S.G.P.).
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NR 64
TC 2
Z9 2
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
EI 1460-2083
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD SEP 15
PY 2014
VL 23
IS 18
BP 4875
EP 4886
DI 10.1093/hmg/ddu201
PG 12
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AQ9OF
UT WOS:000343184400011
PM 24794859
ER
PT J
AU Oginsky, MF
Cui, NR
Zhong, WW
Johnson, CM
Jiang, C
AF Oginsky, Max F.
Cui, Ningren
Zhong, Weiwei
Johnson, Christopher M.
Jiang, Chun
TI Alterations in the cholinergic system of brain stem neurons in a mouse
model of Rett syndrome
SO AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
LA English
DT Article
DE acetylcholine; nicotinic acetylcholine receptor; compensatory
mechanisms; locus coeruleus; Mecp2; Rett syndrome
ID NICOTINIC ACETYLCHOLINE-RECEPTORS; LOCUS-COERULEUS NEURONS; FACILITATES
INHIBITORY TRANSMISSION; SINGLE-CHANNEL PROPERTIES; MECP2-NULL MICE;
SYNAPTIC-TRANSMISSION; SUBSTANTIA-GELATINOSA; TYROSINE-HYDROXYLASE; CO2
CHEMOSENSITIVITY; GABAERGIC NEURONS
AB Rett syndrome is an autism-spectrum disorder resulting from mutations to the X-linked gene, methyl-CpG binding protein 2 (MeCP2), which causes abnormalities in many systems. It is possible that the body may develop certain compensatory mechanisms to alleviate the abnormalities. The norepinephrine system originating mainly in the locus coeruleus (LC) is defective in Rett syndrome and Mecp2-null mice. LC neurons are subject to modulation by GABA, glutamate, and acetylcholine (ACh), providing an ideal system to test the compensatory hypothesis. Here we show evidence for potential compensatory modulation of LC neurons by post-and presynaptic ACh inputs. We found that the postsynaptic currents of nicotinic ACh receptors (nAChR) were smaller in amplitude and longer in decay time in the Mecp2-null mice than in the wild type. Single-cell PCR analysis showed a decrease in the expression of alpha(3)-, alpha(4)-, alpha(7)-, and beta(3)-subunits and an increase in the alpha(5)- and alpha(6)-subunits in the mutant mice. The alpha(5)-subunit was present in many of the LC neurons with slow-decay nAChR currents. The nicotinic modulation of spontaneous GABA(A)-ergic inhibitory postsynaptic currents in LC neurons was enhanced in Mecp2-null mice. In contrast, the nAChR manipulation of glutamatergic input to LC neurons was unaffected in both groups of mice. Our current-clamp studies showed that the modulation of LC neurons by ACh input was reduced moderately in Mecp2-null mice, despite the major decrease in nAChR currents, suggesting possible compensatory processes may take place, thus reducing the defects to a lesser extent in LC neurons.
C1 [Oginsky, Max F.; Cui, Ningren; Zhong, Weiwei; Johnson, Christopher M.; Jiang, Chun] Georgia State Univ, Dept Biol, Atlanta, GA 30302 USA.
RP Jiang, C (reprint author), Georgia State Univ, Dept Biol, 100 Piedmont Ave, Atlanta, GA 30302 USA.
EM cjiang@gsu.edu
FU National Institute of Neurological Disorders and Stroke [NS-073875]
FX This work was supported by National Institute of Neurological Disorders
and Stroke Grant NS-073875.
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NR 75
TC 0
Z9 0
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0363-6143
EI 1522-1563
J9 AM J PHYSIOL-CELL PH
JI Am. J. Physiol.-Cell Physiol.
PD SEP 15
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VL 307
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BP C508
EP C520
DI 10.1152/ajpcell.00035.2014
PG 13
WC Cell Biology; Physiology
SC Cell Biology; Physiology
GA AP9AA
UT WOS:000342369400003
PM 25009110
ER
PT J
AU Dickinson, A
Milne, E
AF Dickinson, Abigail
Milne, Elizabeth
TI Enhanced and impaired sensory discrimination in autism
SO JOURNAL OF NEUROPHYSIOLOGY
LA English
DT Letter
ID SENSITIVITY
C1 [Dickinson, Abigail; Milne, Elizabeth] Univ Sheffield, Dept Psychol, Sheffield, S Yorkshire, England.
RP Dickinson, A (reprint author), Univ Sheffield, Dept Psychol, Sheffield, S Yorkshire, England.
EM a.dickinson@shef.ac.uk
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PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0022-3077
EI 1522-1598
J9 J NEUROPHYSIOL
JI J. Neurophysiol.
PD SEP 15
PY 2014
VL 112
IS 6
BP 1599
EP 1599
DI 10.1152/jn.00288.2014
PG 1
WC Neurosciences; Physiology
SC Neurosciences & Neurology; Physiology
GA AO9RS
UT WOS:000341694700031
PM 25224338
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PT J
AU Puts, NA
Wodka, EL
Tommerdahl, M
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Tommerdahl, Mark
Mostofsky, Stewart H.
Edden, Richard A.
TI Enhanced and impaired sensory discrimination in autism Reply
SO JOURNAL OF NEUROPHYSIOLOGY
LA English
DT Letter
ID TACTILE SENSITIVITY; SPECTRUM DISORDER; CHILDREN
C1 [Puts, Nicolaas A.; Edden, Richard A.] Johns Hopkins Univ Hosp, Sch Med, Russell H Morgan Dept Radiol & Radiol Sci, Baltimore, MD 21287 USA.
[Puts, Nicolaas A.; Edden, Richard A.] Kennedy Krieger Inst, F M Kirby Ctr Funct Brain Imaging, Baltimore, MD USA.
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[Tommerdahl, Mark] Univ N Carolina, Dept Biomed Engn, Chapel Hill, NC USA.
RP Puts, NA (reprint author), Johns Hopkins Univ Hosp, Sch Med, Russell H Morgan Dept Radiol & Radiol Sci, 600 N Wolfe St, Baltimore, MD 21287 USA.
EM nputs1@jhmi.edu
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TC 0
Z9 0
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0022-3077
EI 1522-1598
J9 J NEUROPHYSIOL
JI J. Neurophysiol.
PD SEP 15
PY 2014
VL 112
IS 6
BP 1600
EP 1601
DI 10.1152/jn.00455.2014
PG 2
WC Neurosciences; Physiology
SC Neurosciences & Neurology; Physiology
GA AO9RS
UT WOS:000341694700032
PM 25224339
ER
PT J
AU El-Hassar, L
Simen, AA
Duque, A
Patel, KD
Kaczmarek, LK
Arnsten, AFT
Yeckel, MF
AF El-Hassar, Lynda
Simen, Arthur A.
Duque, Alvaro
Patel, Kiran D.
Kaczmarek, Leonard K.
Arnsten, Amy F. T.
Yeckel, Mark F.
TI Disrupted in Schizophrenia 1 Modulates Medial Prefrontal Cortex
Pyramidal Neuron Activity Through cAMP Regulation of Transient Receptor
Potential C and Small-Conductance K+ Channels
SO BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Ca-2 waves; DISC1; IP3; mGluR5; persistent activity; prefrontal cortex
ID DEPENDENT PROTEIN-KINASE; SPATIAL WORKING-MEMORY; POTASSIUM CHANNEL;
BIPOLAR DISORDER; RHESUS-MONKEYS; PSYCHIATRIC-ILLNESS; CANDIDATE GENE;
CAG REPEAT; DISC1; BRAIN
AB Background: Disrupted in schizophrenia 1 (DISC1) is a protein implicated in schizophrenia, bipolar disorder, major depressive disorder, and autism. To date, most of research examining DISC1 function has focused on its role in neurodevelopment, despite its presence throughout life. DISC1 also regulates cyclic adenosine monophosphate (cAMP) signaling by increasing type 4 phosphodiesterase catabolism of cAMP when cAMP concentrations are high. In this study, we tested the hypothesis that DISC1, through its regulation of cAMP, modulates I-SK and I-TRPC channel-mediated ionic currents that we have shown previously to regulate the activity of mature prefrontal cortical pyramidal neurons.
Methods: We used patch-clamp recordings in prefrontal cortical slices from adult rats in which DISC1 function was reduced in vivo by short hairpin RNA viral knockdown or in vitro by dialysis of DISC1 antibodies.
Results: We found that DISC1 disruption resulted in an increase of metabotropic glutamate receptor-induced intracellular calcium (Ca2+) waves, small-conductance K+ (SK)-mediated hyperpolarization and a decrease of transient receptor potential C (TRPC)-mediated sustained depolarization. Consistent with a role for DISC1 in regulation of cAMP signaling, forskolin-induced cAMP production also increased intracellular Ca2+ waves, I-SK and decreased I-TRPC. Lastly, inhibiting cAMP generation with guanfacine, an alpha 2A-noradrenergic agonist, normalized the function of SK and TRPC channels.
Conclusions: Based on our findings, we propose that diminished DISC1 function, such as occurs in some mental disorders, can lead to the disruption of normal patterns of prefrontal cortex activity through the loss of cAMP regulation of metabotropic glutamate receptor-mediated intracellular Ca2+ waves, SK and TRPC channel activity.
C1 [El-Hassar, Lynda; Duque, Alvaro; Arnsten, Amy F. T.; Yeckel, Mark F.] Yale Univ, Sch Med, Dept Neurobiol, New Haven, CT 06510 USA.
[Simen, Arthur A.; Patel, Kiran D.] Yale Univ, Sch Med, Dept Psychiat, New Haven, CT 06510 USA.
[Kaczmarek, Leonard K.] Yale Univ, Sch Med, Dept Pharmacol, New Haven, CT 06510 USA.
[Arnsten, Amy F. T.; Yeckel, Mark F.] Yale Univ, Sch Med, Kavli Inst Neurosci, New Haven, CT 06510 USA.
RP El-Hassar, L (reprint author), Yale Univ, Sch Med, Dept Neurobiol, SHMB 436,333 Cedar St, New Haven, CT 06510 USA.
EM lynda.elhassar@yale.edu
FU National Institute on Alcohol Abuse and Alcoholism [1RL1AA017536];
National Institute of Mental Health [RO1-MH067830, P50-MH068789];
National Alliance for Research on Schizophrenia and Depression
Distinguished Investigator Award (AFTA); National Institutes of Health
[DC 01919]; Kavli Foundation
FX This work was supported by the National Institute on Alcohol Abuse and
Alcoholism 1RL1AA017536 (AFTA and MFY); Kavli Foundation, National
Institute of Mental Health RO1-MH067830 and P50-MH068789 (AFTA and MFY);
National Alliance for Research on Schizophrenia and Depression
Distinguished Investigator Award (AFTA); and National Institutes of
Health Grant DC 01919 (LKK).
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NR 71
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD SEP 15
PY 2014
VL 76
IS 6
BP 476
EP 485
DI 10.1016/j.biopsych.2013.12.019
PG 10
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AN8WT
UT WOS:000340887100011
PM 24560582
ER
PT J
AU Komulainen, E
Zdrojewska, J
Freemantle, E
Mohammad, H
Kulesskaya, N
Deshpande, P
Marchisella, F
Mysore, R
Hollos, P
Michelsen, KA
Magard, M
Rauvala, H
James, P
Coffey, ET
AF Komulainen, Emilia
Zdrojewska, Justyna
Freemantle, Erika
Mohammad, Hasan
Kulesskaya, Natalia
Deshpande, Prasannakumar
Marchisella, Francesca
Mysore, Raghavendra
Hollos, Patrik
Michelsen, Kimmo A.
Magard, Mats
Rauvala, Heikki
James, Peter
Coffey, Eleanor T.
TI JNK1 controls dendritic field size in L2/3 and L5 of the motor cortex,
constrains soma size, and influences fine motor coordination
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Article
DE JNK; dendrite; motor cortex; MAP2; microtubules; cytoskeleton;
schizophrenia; behavior
ID MICROTUBULE-ASSOCIATED PROTEIN-2; N-TERMINAL KINASE; SYNAPTIC
INTEGRATION; PREFRONTAL CORTEX; MOLECULAR-BASIS; PHOSPHORYLATION;
NEURONS; SCHIZOPHRENIA; MAP2; ARBORIZATION
AB Genetic anomalies on the JNK pathway confer susceptibility to autism spectrum disorders, schizophrenia, and intellectual disability. The mechanism whereby a gain or loss of function in JNK signaling predisposes to these prevalent dendrite disorders, with associated motor dysfunction, remains unclear. Here we find that JNK1 regulates the dendritic field of L2/3 and L5 pyramidal neurons of the mouse motor cortex (M1), the main excitatory pathway controlling voluntary movement. In Jnk1-/- mice, basal dendrite branching of L5 pyramidal neurons is increased in M1, as is cell soma size, whereas in L2/3, dendritic arborization is decreased. We show that JNK1 phosphorylates rat HMVV-MAP2 on T1619, T1622, and T1625 (Uniprot P15146) corresponding to mouse T1617, T1620, T1623, to create a binding motif, that is critical for MAP2 interaction with and stabilization of microtubules, and dendrite growth control. Targeted expression in M1 of GFP-HMVW-MAP2 that is pseudo-phosphorylated on T1619, T1622, and T1625 increases dendrite complexity in L2/3 indicating that JNK1 phosphorylation of HMVV-MAP2 regulates the dendritic field. Consistent with the morphological changes observed in L2/3 and L5, Jnk1-/mice exhibit deficits in limb placement and motor coordination, while stride length is reduced in older animals. In summary, JNK1 phosphorylates HMVV-MAP2 to increase its stabilization of microtubules while at the same time controlling dendrite fields in the main excitatory pathway of M1. Moreover, JNK1 contributes to normal functioning of fine motor coordination. We report for the first time, a quantitative Sholl analysis of dendrite architecture, and of motor behavior in Jnk1-/- mice. Our results illustrate the molecular and behavioral consequences of interrupted JNK1 signaling and provide new ground for mechanistic understanding of those prevalent neuropyschiatric disorders where genetic disruption of the JNK pathway is central.
C1 [Komulainen, Emilia; Zdrojewska, Justyna; Freemantle, Erika; Mohammad, Hasan; Deshpande, Prasannakumar; Marchisella, Francesca; Mysore, Raghavendra; Hollos, Patrik; Coffey, Eleanor T.] Abo Akad Univ, Turku Ctr Biotechnol, FIN-20520 Turku, Finland.
[Komulainen, Emilia; Zdrojewska, Justyna; Freemantle, Erika; Mohammad, Hasan; Deshpande, Prasannakumar; Marchisella, Francesca; Mysore, Raghavendra; Hollos, Patrik; Coffey, Eleanor T.] Univ Turku, FIN-20520 Turku, Finland.
[Kulesskaya, Natalia; Rauvala, Heikki] Univ Helsinki, Ctr Neurosci, Helsinki, Finland.
[Michelsen, Kimmo A.] Abo Akad Univ, Dept Biosci, FIN-20520 Turku, Finland.
[Magard, Mats; James, Peter] Lund Univ, Inst Immune Technol, Medicon Village, Lund, Sweden.
RP Coffey, ET (reprint author), Abo Akad Univ, Turku Ctr Biotechnol, Tykistokatu 6, FIN-20520 Turku, Finland.
EM ecoffey@btk.fi
FU Academy of Finland [255537, 218125, 125860]; Sigrid Juselius Foundation;
FP7 Marie Curie ITN r'BIRTH; Abo Akademi University; Finnish Graduate
School of Neuroscience; Turku Graduate School of Biomedical Sciences;
CIMO
FX This work was supported by grants to Eleanor Coffey from the Academy of
Finland (no. 255537; no. 218125, no. 125860), the Sigrid Juselius
Foundation, and the FP7 Marie Curie ITN r'BIRTH We acknowledge Abo
Akademi University for supporting Eleanor Coffey, the Finnish Graduate
School of Neuroscience for support to Emilia Komulainen and Justyna
Zdrojewska, and Turku Graduate School of Biomedical Sciences for support
to Prasannakumar Deshpande. We acknowledge CIMO for a grant to
Raghavendra. Mysore, We thank Elli Oksanen lair technical assistance
with molecular cloning. We are grateful to the Cell Imaging Core at
Turku Center for Biotechnology for providing imaging devices.
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NR 79
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5102
J9 FRONT CELL NEUROSCI
JI Front. Cell. Neurosci.
PD SEP 12
PY 2014
VL 8
DI 10.3389/fncel.2014.00272
PG 15
WC Neurosciences
SC Neurosciences & Neurology
GA AS7WP
UT WOS:000344462900001
PM 25309320
ER
PT J
AU Kang, SS
Kurti, A
Fair, DA
Fryer, JD
AF Kang, Silvia S.
Kurti, Aishe
Fair, Damien A.
Fryer, John D.
TI Dietary intervention rescues maternal obesity induced behavior deficits
and neuroinflammation in offspring
SO JOURNAL OF NEUROINFLAMMATION
LA English
DT Article
DE Maternal obesity; Dietary intervention; Neuroinflammation; Behavior;
ASD; ADHD
ID HIGH-FAT DIET; BODY-MASS INDEX; POSTOPERATIVE COGNITIVE DECLINE;
NECROSIS-FACTOR-ALPHA; CORE GUT MICROBIOME; RETT-SYNDROME;
BRAIN-DEVELOPMENT; ADIPOSITY PRIOR; IMMUNE-SYSTEM; WEIGHT-GAIN
AB Obesity induces a low-grade inflammatory state and has been associated with behavioral and cognitive alterations. Importantly, maternal environmental insults can adversely impact subsequent offspring behavior and have been linked with neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (AHDH). It is unknown if maternal obesity significantly alters offspring sociability, a key ASD feature, and if altering maternal diet will provide an efficacious intervention paradigm for behavioral deficits. Here we investigated the impact of maternal high fat diet (HFD) and maternal dietary intervention during lactation on offspring behavior and brain inflammation in mice. We found that maternal HFD increased anxiety and decreased sociability in female offspring. Additionally, female offspring from HFD-fed dams also exhibited increased brain IL-1 beta and TNF alpha and microglial activation. Importantly, maternal dietary intervention during lactation was sufficient to alleviate social deficits and brain inflammation. Maternal obesity during gestation alone was sufficient to increase hyperactivity in male offspring, a phenotype that was not ameliorated by dietary intervention. These data suggest that maternal HFD acts as a prenatal/perinatal insult that significantly impacts offspring behavior and inflammation and that dietary intervention during lactation may be an easily translatable, efficacious intervention to offset some of these manifestations.
C1 [Kang, Silvia S.; Kurti, Aishe; Fryer, John D.] Mayo Clin, Dept Neurosci, Jacksonville, FL 32224 USA.
[Fryer, John D.] Mayo Grad Sch, Neurobiol Dis Program, Rochester, MN 55905 USA.
[Fair, Damien A.] Oregon Hlth & Sci Univ, Dept Psychiat & Behav Neurosci, Portland, OR 97239 USA.
[Fair, Damien A.] Oregon Hlth & Sci Univ, Adv Imaging Res Ctr, Portland, OR 97239 USA.
RP Fryer, JD (reprint author), Mayo Clin, Dept Neurosci, 4500 San Pablo Rd, Jacksonville, FL 32224 USA.
EM fryer.john@mayo.edu
FU Mayo Foundation; GHR Foundation; Mayo Clinic Center for Individualized
Medicine; Mayo Clinic Gerstner Family Career Development Award; National
Institutes of Health/National Institute of Mental Health (NIH/NIMH) [R03
MH103632]; NIH/NIMH [R00 MH091238, R01 MH096773]
FX We would like to thank Chris Fulcher for technical support. Funding
sources for JDF: Mayo Foundation, GHR Foundation, Mayo Clinic Center for
Individualized Medicine, Mayo Clinic Gerstner Family Career Development
Award. Funding sources for SSK: National Institutes of Health/National
Institute of Mental Health (NIH/NIMH) R03 MH103632. Funding sources for
DAF: NIH/NIMH R00 MH091238 and R01 MH096773.
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NR 84
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1742-2094
J9 J NEUROINFLAMM
JI J. Neuroinflamm.
PD SEP 12
PY 2014
VL 11
AR 156
DI 10.1186/s12974-014-0156-9
PG 12
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA AQ3LZ
UT WOS:000342696700001
PM 25212412
ER
PT J
AU Chen, JL
Yu, SY
Fu, YM
Li, XH
AF Chen, Jianling
Yu, Shunying
Fu, Yingmei
Li, Xiaohong
TI Synaptic proteins and receptors defects in autism spectrum disorders
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Review
DE autism spectrum disorders; synaptic protein; GABA; PSD-95; SHANK3; TAOK2
ID COPY-NUMBER VARIATION; GEPHYRIN-DEFICIENT MICE; NEUROLIGIN GENES NLGN3;
OF-FUNCTION MUTATIONS; DE-NOVO; SUSCEPTIBILITY GENE; MENTAL-RETARDATION;
INHIBITORY SYNAPSES; WILLIAMS-SYNDROME; MULTIPLE GENES
AB Recent studies have found that hundreds of genetic variants, including common and rare variants, rare and de novo mutations, and common polymorphisms contribute to the occurrence of autism spectrum disorders (ASDs). The mutations in a number of genes such as neurexin, neuroligin, postsynaptic density protein 95, SH3, and multiple ankyrin repeat domains 3 (SHANK3), synapsin, gephyrin, cadherin, and protocadherin, thousand-and-one-amino acid 2 kinase, and contactin, have been shown to play important roles in the development and function of synapses. In addition, synaptic receptors, such as gamma-aminobutyric acid receptors and glutamate receptors, have also been associated with ASDs. This review will primarily focus on the defects of synaptic proteins and receptors associated with ASDs and their roles in the pathogenesis of ASDs via synaptic pathways.
C1 [Chen, Jianling; Yu, Shunying; Fu, Yingmei] Shanghai Jiao Tong Univ, Sch Med, Shanghai Mental Hlth Ctr, Shanghai Key Lab Psychot Disorders, Shanghai 200030, Peoples R China.
[Li, Xiaohong] New York State Inst Basic Res Dev Disabil, Dept Neurochem, Staten Isl, NY 10314 USA.
RP Yu, SY (reprint author), Shanghai Jiao Tong Univ, Sch Med, Shanghai Mental Hlth Ctr, Shanghai Key Lab Psychot Disorders, 600 Wanping Nan Rd, Shanghai 200030, Peoples R China.
EM yushuny@gmail.com
FU Shanghai Jiao Tong University K.C. Wong Medical Fellowship Fund;
National Basic Research Program 973 of China [2012CB 517900]
FX The author gratefully acknowledges the support of Shanghai Jiao Tong
University K.C. Wong Medical Fellowship Fund and the National Basic
Research Program 973 of China (Grant No. 2012CB 517900).
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NR 142
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5102
J9 FRONT CELL NEUROSCI
JI Front. Cell. Neurosci.
PD SEP 11
PY 2014
VL 8
AR 276
DI 10.3389/fncel.2014.00276
PG 13
WC Neurosciences
SC Neurosciences & Neurology
GA AS7WU
UT WOS:000344463400001
PM 25309321
ER
PT J
AU Pedersen, CA
Chang, SWC
Williams, CL
AF Pedersen, Cort A.
Chang, Steven W. C.
Williams, Christina L.
TI Evolutionary perspectives on the role of oxytocin in human social
behavior, social cognition and psychopathology
SO BRAIN RESEARCH
LA English
DT Editorial Material
ID MATERNAL AGGRESSIVE-BEHAVIOR; HYPOTHALAMIC PARAVENTRICULAR NUCLEUS;
RANDOMIZED CONTROLLED-TRIAL; AUTISM SPECTRUM DISORDERS; ANXIETY-RELATED
BEHAVIOR; FEMALE HOUSE MICE; INTRANASAL OXYTOCIN; HUMAN BRAIN; INCREASES
TRUST; RHESUS-MONKEYS
C1 [Pedersen, Cort A.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA.
[Chang, Steven W. C.] Levine Sci Res Ctr, Ctr Cognit Neurosci, Durham, NC USA.
[Williams, Christina L.] Duke Univ, Dept Psychol & Brain Sci, Durham, NC USA.
RP Pedersen, CA (reprint author), Univ N Carolina, Dept Psychiat, CB 7160, Chapel Hill, NC 27599 USA.
EM Cort_Pedersen@med.unc.edu
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NR 58
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD SEP 11
PY 2014
VL 1580
SI SI
BP 1
EP 7
DI 10.1016/j.brainres.2014.07.033
PG 7
WC Neurosciences
SC Neurosciences & Neurology
GA AQ1MS
UT WOS:000342546100001
PM 25091638
ER
PT J
AU Febo, M
Ferris, CF
AF Febo, Marcelo
Ferris, Craig F.
TI Oxytocin and vasopressin modulation of the neural correlates of
motivation and emotion: results from functional MRI studies in awake
rats
SO BRAIN RESEARCH
LA English
DT Article
DE Functional MRI; BOLD fMRI; Rat; Awake rat imaging; Oxytocin;
Vasopressin; Maternal rat; Maternal attachment; Fear; Anxiety;
Aggression; Aggressive behavior; Autism; Addiction
ID ANTERIOR CINGULATE CORTEX; NUCLEUS BASALIS MAGNOCELLULARIS;
MESSENGER-RIBONUCLEIC-ACID; AUTISM SPECTRUM DISORDERS; MIDBRAIN DOPAMINE
NEURONS; GAMMA-AMINOBUTYRIC-ACID; V1A RECEPTOR ANTAGONIST;
OLFACTORY-BULB REMOVAL; CENTRAL-NERVOUS-SYSTEM; MATERNAL-BEHAVIOR
AB Oxytocin and vasopressin modulate a range of species typical behavioral functions that include social recognition, maternal-infant attachment, and modulation of memory, offensive aggression, defensive fear reactions, and reward seeking. We have employed novel functional magnetic resonance mapping techniques in awake rats to explore the roles of these neuropeptides in the maternal and non-maternal brain. Results from the functional neuroimaging studies that are summarized here have directly and indirectly confirmed and supported previous findings. Oxytocin is released within the lactating rat brain during suckling stimulation and activates specific subcortical networks in the maternal brain. Both vasopressin and oxytocin modulate brain regions involved unconditioned fear, processing of social stimuli and the expression of agonistic behaviors. Across studies there are relatively consistent brain networks associated with internal motivational drives and emotional states that are modulated by oxytocin and vasopressin.
This article is part of a Special Issue entitled Oxytocin and Social Behav. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Febo, Marcelo] Univ Florida, McKnight Brain Inst, Dept Psychiat, Gainesville, FL 32611 USA.
[Ferris, Craig F.] Northeastern Univ, Ctr Translat Neuroimaging, Boston, MA 02115 USA.
[Ferris, Craig F.] Northeastern Univ, Dept Pharmaceut Sci, Boston, MA 02115 USA.
[Ferris, Craig F.] Northeastern Univ, Dept Psychol, Boston, MA 02115 USA.
RP Febo, M (reprint author), Univ Florida, McKnight Brain Inst, Dept Psychiat, Gainesville, FL 32611 USA.
EM c.ferris@neu.edu
FU NIH [DA019946]
FX Support was provided in part by NIH grant DA019946. Its contents are
solely the responsibility of the authors and do not necessarily
represent the official views of the National Institute of Health. The
NIH and NIDA had no role in study design; in the collection, analysis
and interpretation of data; in the writing of the report; and in the
decision to submit the article for publication. The authors have no
financial, commercial or personal conflict of interest to report.
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NR 130
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD SEP 11
PY 2014
VL 1580
SI SI
BP 8
EP 21
DI 10.1016/j.brainres.2014.01.019
PG 14
WC Neurosciences
SC Neurosciences & Neurology
GA AQ1MS
UT WOS:000342546100002
PM 24486356
ER
PT J
AU Chang, SWC
Platt, ML
AF Chang, Steve W. C.
Platt, Michael L.
TI Oxytocin and social cognition in rhesus macaques: Implications for
understanding and treating human psychopathology
SO BRAIN RESEARCH
LA English
DT Article
DE Oxytocin; Social cognition; Rhesus macaques; Amygdala; Social
decision-making; Social vigilance; Intranasal; Nebulizer; Inhalation
ID AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; MATERNAL-BEHAVIOR;
HUMAN-BRAIN; PRIMATE AMYGDALA; PRAIRIE VOLES; MALE-RATS; VICARIOUS
REINFORCEMENT; AFFILIATIVE BEHAVIOR; STRESS RESPONSES
AB Converging evidence from humans and non-human animals indicates that the neurohypophysial hormone oxytocin (OT) evolved to serve a specialized function in social behavior in mammals. Although OT-based therapies are currently being evaluated as remedies for social deficits in neuropsychiatric disorders, precisely how OT regulates complex social processes remains largely unknown. Here we describe how a non-human primate model can be used to understand the mechanisms by which OT regulates social cognition and thereby inform its clinical application in humans. We focus primarily on recent advances in our understanding of OT-mediated social cognition in rhesus macaques (Macaca mulatta), supplemented by discussion of recent work in humans, other primates, and rodents. Together, these studies endorse the hypothesis that OT promotes social exploration both by amplifying social motivation and by attenuating social vigilance.
This article is part of a Special Issue entitled Oxytocin and Social Behav. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Chang, Steve W. C.] Yale Univ, Dept Psychol, New Haven, CT 06511 USA.
[Chang, Steve W. C.; Platt, Michael L.] Duke Univ, Duke Inst Brain Sci, Durham, NC 27708 USA.
[Chang, Steve W. C.; Platt, Michael L.] Duke Univ, Levine Sci Res Ctr B203, Ctr Cognit Neurosci, Durham, NC 27708 USA.
[Platt, Michael L.] Duke Univ, Sch Med, Dept Neurobiol, Durham, NC 27710 USA.
[Platt, Michael L.] Duke Univ, Dept Psychol & Neurosci, Durham, NC 27708 USA.
[Platt, Michael L.] Duke Univ, Dept Evolutionary Anthropol, Durham, NC 27708 USA.
RP Chang, SWC (reprint author), Yale Univ, Dept Psychol, New Haven, CT 06511 USA.
EM steve.chang@yale.edu
FU National Institute for Mental Health [K99-MH099093, R01-MH086712];
Department of Defense [W81XWH-11-1-0584]
FX This work was supported by K99-MH099093 (S.W.C.C.) and R01-MH086712
(M.L.P. and S.W.C.C.) from the National Institute for Mental Health, and
W81XWH-11-1-0584 from the Department of Defense (M.L.P. and S.W.C.C.).
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NR 119
TC 5
Z9 5
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD SEP 11
PY 2014
VL 1580
SI SI
BP 57
EP 68
DI 10.1016/j.brainres.2013.11.006
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AQ1MS
UT WOS:000342546100004
PM 24231551
ER
PT J
AU Evans, SL
Dal Monte, O
Noble, P
Averbeck, BB
AF Evans, Simon L.
Dal Monte, Olga
Noble, Pamela
Averbeck, Bruno B.
TI Intranasal oxytocin effects on social cognition: A critique
SO BRAIN RESEARCH
LA English
DT Article
DE Oxytocin; Intranasal administration; CSF; Social stimuli; Pro-social
neuropeptide; Anxiety; Social cognition
ID AUTISM SPECTRUM DISORDERS; MALE PRAIRIE VOLES; CEREBROSPINAL-FLUID;
PLASMA OXYTOCIN; PSYCHOSOCIAL STRESS; PARTNER PREFERENCE; INCREASES
TRUST; BRAIN RESPONSES; RHESUS MACAQUES; MACACA-MULATTA
AB The last decade has seen a large number of published findings supporting the hypothesis that intranasally delivered oxytocin (OT) can enhance the processing of social stimuli and regulate social emotion-related behaviors such as trust, memory, fidelity, and anxiety. The use of nasal spray for administering OT in behavioral research has become a standard method, but many questions still exist regarding its action. OT is a peptide that cannot cross the blood-brain barrier, and it has yet to be shown that it does indeed reach the brain when delivered intranasally. Given the evidence, it seems highly likely that OT does affect behavior when delivered as a nasal spray. These effects may be driven by at least three possible mechanisms. First, the intranasally delivered OT may diffuse directly into the CNS where it directly engages OT receptors. Second, the intranasally delivered OT may trigger increased central release via an indirect peripheral mechanism. And third, the indirect peripheral effects may directly lead to behavioral effects via some mechanism other than increased central release. Although intranasally delivered OT likely affects behavior, there are conflicting reports as to the exact nature of those behavioral changes: some studies suggest that OT effects are not always "pro-social" and others suggest effects on social behaviors are due to a more general anxiolytic effect. In this critique, we draw from work in healthy human populations and the animal literature to review the mechanistic aspects of intranasal OT delivery, and to discuss intranasal OT effects on social cognition and behavior. We conclude that future work should control carefully for anxiolytic and gender effects, which could underlie inconsistencies in the existing literature.
This article is part of a Special Issue entitled Oxytocin and Social Behav. Published by Elsevier B.V.
C1 [Evans, Simon L.] Univ Sussex, Sch Psychol, Brighton BN1 9QG, E Sussex, England.
[Dal Monte, Olga; Noble, Pamela; Averbeck, Bruno B.] NIMH, Lab Neuropsychol, NIH, Bethesda, MD USA.
[Dal Monte, Olga] Univ Turin, Dept Neuropsychol, Turin, Italy.
RP Averbeck, BB (reprint author), Univ Sussex, Sch Psychol, Brighton BN1 9QG, E Sussex, England.
EM bruno.averbeck@nih.gov
FU National Institute of Mental Health, NIMH
FX This research was supported by the Intramural Research Program of the
National Institute of Mental Health, NIMH.
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NR 104
TC 3
Z9 3
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD SEP 11
PY 2014
VL 1580
SI SI
BP 69
EP 77
DI 10.1016/j.brainres.2013.11.008
PG 9
WC Neurosciences
SC Neurosciences & Neurology
GA AQ1MS
UT WOS:000342546100005
PM 24239931
ER
PT J
AU Pedersen, CA
AF Pedersen, Cort A.
TI Schizophrenia and alcohol dependence: Diverse clinical effects of
oxytocin and their evolutionary origins
SO BRAIN RESEARCH
LA English
DT Article
DE Oxytocin; Schizophrenia; Social cognition; Alcohol withdrawal; Alcohol
dependence; Treatment
ID RECEPTOR MESSENGER-RNA; INCREASES EXTRACELLULAR DOPAMINE; ADJUNCTIVE
INTRANASAL OXYTOCIN; OBSESSIVE-COMPULSIVE DISORDER; NATIONAL
EPIDEMIOLOGIC SURVEY; VOLES MICROTUS-OCHROGASTER; MEDIAL PREFRONTAL
CORTEX; VENTRAL TEGMENTAL AREA; PITUITARY-ADRENAL AXIS; FEMALE PRAIRIE
VOLES
AB Beginning in 1979 with the first report that central administration of oxytocin stimulates maternal behavior in virgin rats, decades of animal research and more recent human studies have demonstrated that oxytocin has many pro-social effects. These many findings suggest that oxytocin may be an effective treatment for social deficits that are hallmark features of disorders such as autism and schizophrenia. Effects in preclinical animal models also imply that oxytocin may be an efficacious pharmacotherapy in a wide range of psychiatric disorders including psychoses and addictions. To date, 3 small clinical trials found that daily intranasal oxytocin treatment for 2-8 weeks significantly reduced psychotic symptoms in schizophrenia. Two of these trials also found improvement in social cognition or neurocognition, areas in which patients have significant deficiencies that do not respond to conventional antipsychotic treatment and contribute to disability. In another small trial, intranasal oxytocin potently blocked alcohol withdrawal. After reviewing the rationale for these trials, they are described in more detail. Questions are then asked followed by discussions of the large gaps in our knowledge about brain oxytocin systems in humans. The hope is to highlight important directions for future investigations of the role of oxytocin in the pathophysiology of psychotic disorders and addictions and to extend clinical research in these areas. Heretofore unrecognized roles for which oxytocin may have been selected during the evolution of placental mammalian maternal-infant and other social attachments are considered as possible origins of oxytocin antipsychotic and antiaddiction effects.
This article is part of a Special Issue entitled Oxytocin and Social Behav. (C) 2014 Published by Elsevier B.V.
C1 Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA.
RP Pedersen, CA (reprint author), Univ N Carolina, Dept Psychiat, CB 7160, Chapel Hill, NC 27599 USA.
EM cort_pedersen@med.unc.edu
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NR 255
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD SEP 11
PY 2014
VL 1580
SI SI
BP 102
EP 123
DI 10.1016/j.brainres.2014.01.050
PG 22
WC Neurosciences
SC Neurosciences & Neurology
GA AQ1MS
UT WOS:000342546100007
PM 24508579
ER
PT J
AU Kanat, M
Heinrichs, M
Domes, G
AF Kanat, Manuela
Heinrichs, Markus
Domes, Gregor
TI Oxytocin and the social brain: Neural mechanisms and perspectives in
human research
SO BRAIN RESEARCH
LA English
DT Article
DE Functional imaging; Oxytocin; Brain activity; Social behavior; Social
cognition
ID AUTISM SPECTRUM DISORDERS; MATERNAL LOVE WITHDRAWAL; MENSTRUAL-CYCLE
PHASE; ADULT HUMAN BRAIN; INTRANASAL OXYTOCIN; SEX-DIFFERENCES; AMYGDALA
ACTIVATION; FACIAL EXPRESSIONS; MODULATES AMYGDALA; ANXIETY DISORDER
AB The present paper summarizes functional imaging studies investigating the effects of intranasal oxytocin (OT) on brain responses to social stimuli. We aim to integrate previous research, point to unresolved issues and highlight perspectives for future studies. The studies so far have focused on identifying neural circuits underlying social information processing which are particularly sensitive to modulations by exogenous OT. Most consistently, stimulus-related responses of the amygdala and associated areas within the prefrontal and temporal cortices have been found to be modulated by OT administration. However, there are a number of unresolved issues related to the possible role of sex differences and hormonal status, genetic variability, and individual differences in socio-cognitive functioning. Future studies focusing on these open questions are expected to contribute to a more nuanced understanding of the role of the central OT system in humans and may provide the basis for novel treatment approaches for mental disorders characterized by social deficits.
This article is part of a Special Issue entitled Oxytocin and Social Behav. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Kanat, Manuela; Heinrichs, Markus; Domes, Gregor] Univ Freiburg, Dept Psychol, Lab Biol & Personal Psychol, D-79104 Freiburg, Germany.
[Kanat, Manuela; Heinrichs, Markus; Domes, Gregor] Univ Freiburg, Univ Med Ctr, Freiburg Brain Imaging Ctr, D-79106 Freiburg, Germany.
RP Domes, G (reprint author), Univ Freiburg, Dept Psychol, Lab Biol & Personal Psychol, Stefan Meier Str 8, D-79104 Freiburg, Germany.
EM domes@psychologie.uni-freiburg.de
RI Domes, Gregor/J-3369-2013
OI Domes, Gregor/0000-0001-5908-4374
FU Deutsche Forschungsgemeinschaft [DFG 1312/2-1]
FX We gratefully acknowledge the valuable discussion with Dr. Frances S.
Chen. Preparation of the manuscript was supported by a grant from the
Deutsche Forschungsgemeinschaft (DFG 1312/2-1).
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NR 118
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD SEP 11
PY 2014
VL 1580
SI SI
BP 160
EP 171
DI 10.1016/j.brainres.2013.11.003
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AQ1MS
UT WOS:000342546100012
PM 24216134
ER
PT J
AU Anagnostou, E
Soorya, L
Brian, J
Dupuis, A
Mankad, D
Smile, S
Jacob, S
AF Anagnostou, Eudokia
Soorya, Latha
Brian, Jessica
Dupuis, Annie
Mankad, Deepali
Smile, Sharon
Jacob, Suma
TI Intranasal oxytocin in the treatment of autism spectrum disorders: A
review of literature and early safety and efficacy data in youth
SO BRAIN RESEARCH
LA English
DT Review
DE Autism; Oxytocin; Clinical trial; Social cognition; Social function
ID RECEPTOR GENE OXTR; OBSESSIVE-COMPULSIVE SCALE; HIGH-FUNCTIONING AUTISM;
SOCIAL COGNITION; JAPANESE POPULATION; REVISED VERSION; HUMAN BRAIN;
VASOPRESSIN; BEHAVIOR; MICE
AB Background: There is a paucity of treatments targeting core symptom domains in Autism Spectrum Disorder (ASD). Several animal models and research in typically developing volunteers suggests that manipulation of the oxytocin system may have therapeutic potential for the treatment of social deficits. We review the literature for oxytocin and ASD and report on early dosing, safety and efficacy data of multi-dose oxytocin on aspects of social cognition/function, as well as repetitive behaviors and co-occurring anxiety within ASD. Methods: Fifteen children and adolescents with verbal IQs >= 70 were diagnosed with ASD using the ADOS and the ADI-R. They participated in a modified maximum tolerated dose study of intranasal oxytocin (Syntocinon). Data were modeled using repeated measures regression analysis controlling for week, dose, age, and sex. Results: Among 4 doses tested, the highest dose evaluated, 0.4 IU/kg/dose, was found to be well tolerated. No serious or severe adverse events were reported and adverse events reported/observed were mild to moderate. Over 12 weeks of treatment, several measures of social cognition/function, repetitive behaviors and anxiety showed sensitivity to change with some measures suggesting maintenance of effect 3 months past discontinuation of intranasal oxytocip. Conclusions: This pilot study suggests that daily administration of intranasal oxytocin at 0.4 IU/kg/dose in children and adolescents with ASD is safe and has therapeutic potential. Larger studies are warranted.
This article is part of a Special Issue entitled Oxytocin and Social Behav. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Anagnostou, Eudokia; Brian, Jessica; Mankad, Deepali; Smile, Sharon] Univ Toronto, Bloorview Res Inst, Toronto, ON M4G 1R8, Canada.
[Soorya, Latha] Rush Univ, Med Ctr, Dept Psychiat, Chicago, IL 60610 USA.
[Dupuis, Annie] Univ Toronto, Hosp Sick Children, Dalla Lana Sch Publ Hlth, Toronto, ON M5G 1X8, Canada.
[Jacob, Suma] Univ Minnesota, Dept Psychiat & Pediat, Minneapolis, MN 55455 USA.
RP Anagnostou, E (reprint author), Univ Toronto, Bloorview Res Inst, 150 Kilgour Rd, Toronto, ON M4G 1R8, Canada.
EM eanagnostou@hollandbloorview.ca
FU Department of Defense (DOD) [AR093387]
FX This study was funded by a Grant from the Department of Defense (DOD)
(AR093387) to Dr. Anagnostou.
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NR 73
TC 10
Z9 10
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD SEP 11
PY 2014
VL 1580
SI SI
BP 188
EP 198
DI 10.1016/j.brainres.2014.01.049
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AQ1MS
UT WOS:000342546100015
PM 24508578
ER
PT J
AU Francis, SM
Sagar, A
Leuin-Decanini, T
Liu, W
Carter, CS
Jacob, S
AF Francis, S. M.
Sagar, A.
Levin-Decanini, T.
Liu, W.
Carter, C. S.
Jacob, S.
TI Oxytocin and vasopressin systems in genetic syndromes and
neurodevelopmental disorders
SO BRAIN RESEARCH
LA English
DT Article
DE Oxytocin; Vasopressin; Autism; Prader-Willi; Williams; Fragile X
ID FRAGILE-X-SYNDROME; PRADER-WILLI-SYNDROME; AUTISM SPECTRUM DISORDERS;
MENTAL-RETARDATION PROTEIN; GENOME MICROARRAY ANALYSIS; LONG-TERM
POTENTIATION; WHOLE-BLOOD SEROTONIN; FMR1 KNOCKOUT MOUSE;
SOCIAL-BEHAVIOR; 1ST-DEGREE RELATIVES
AB Oxytocin (OT) and arginine vasopressin (AVP) are two small, related neuropeptide hormones found in many mammalian species, including humans. Dysregulation of these neuropeptides have been associated with changes in behavior, especially social interactions. We review how the OT and AVP systems have been investigated in Autism Spectrum Disorder (ASD), Prader-Willi Syndrome (PWS), Williams Syndrome (WS) and Fragile X syndrome (FXS). All of these neurodevelopmental disorders (NDD) are marked by social deficits. While PWS, WS and FXS have identified genetic mutations, ASD stems from multiple genes with complex interactions. Animal models of NDD are invaluable for studying the role and relatedness of OT and AVP in the developing brain. We present data from a FXS mouse model affecting the fragile X mental retardation 1 (Fmr1) gene, resulting in decreased OT and AVP staining cells in some brain regions. Reviewing the research about OT and AVP in these NDD suggests that altered OT pathways may be downstream from different etiological factors and perturbations in development. This has implications for ongoing studies of the therapeutic application of OT in NDD.
This article is part of a Special Issue entitled Oxytocin and Social Behav. (C) 2014 Published by Elsevier B.V.
C1 [Francis, S. M.; Levin-Decanini, T.; Jacob, S.] Univ Minnesota, Dept Psychiat, Minneapolis, MN 55455 USA.
[Sagar, A.] Univ Calif Irvine, Dept Psychiat & Human Behav, Irvine, CA 92717 USA.
[Liu, W.] Northwestern Univ, Feinberg Sch Med, Chicago, IL 60611 USA.
[Carter, C. S.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA.
RP Jacob, S (reprint author), Univ Minnesota, Wallin Med Biosci Bldg,2101 6th St SE, Minneapolis, MN 55455 USA.
EM sjacob@umn.edu
FU NIH [K23MH082121]
FX This work was supported in part by NIH K23MH082121 (SJ). The authors
would like to acknowledge Dr. John Larson for his contribution of the
Frm1 KO mice. We would also like to thank Jeanine Leary and Jennifer
Speak for their assistance in manuscript formatting and preparation.
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NR 205
TC 3
Z9 3
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD SEP 11
PY 2014
VL 1580
SI SI
BP 199
EP 218
DI 10.1016/j.brainres.2014.01.021
PG 20
WC Neurosciences
SC Neurosciences & Neurology
GA AQ1MS
UT WOS:000342546100016
PM 24462936
ER
PT J
AU Kim, S
Soeken, TA
Cromer, SJ
Martinez, SR
Hardy, LR
Strathearn, L
AF Kim, Sohye
Soeken, Timothy A.
Cromer, Sara J.
Martinez, Sheila R.
Hardy, Leah R.
Strathearn, Lane
TI Oxytocin and postpartum depression: Delivering on what's known and
what's not
SO BRAIN RESEARCH
LA English
DT Article
DE Postpartum depression; Oxytocin; Treatment; Maternal caregiving; Infant
ID RANDOMIZED-CONTROLLED-TRIAL; PITUITARY-ADRENAL AXIS; HYPOTHALAMIC
PARAVENTRICULAR NUCLEUS; CORTICOTROPIN-RELEASING HORMONE; AUTISM
SPECTRUM DISORDERS; RECEPTOR-ALPHA EXPRESSION;
MOTHER-CHILD-RELATIONSHIP; INFANT-FEEDING OUTCOMES; SOCIAL ANXIETY
DISORDER; VENTRAL TEGMENTAL AREA
AB The role of oxytocin in the treatment of postpartum depression has been a topic of growing interest. This subject carries important implications, given that postpartum depression can have detrimental effects on both the mother and her infant, with lifelong consequences for infant socioemotional and cognitive development. In recent years, oxytocin has received attention for its potential role in many neuropsychiatric conditions beyond its well-described functions in childbirth and lactation. In the present review, we present available data on the clinical characteristics and neuroendocrine foundations of postpartum depression. We outline current treatment modalities and their limitations, and proceed to evaluate the potential role of oxytocin in the treatment of postpartum depression. The aim of the present review is twofold: (a) to bring together evidence from animal and human research concerning the role of oxytocin in postpartum depression, and (b) to highlight areas that deserve further research in order to bring a fuller understanding of oxytocin's therapeutic potential.
This article is part of a Special Issue entitled Oxytocin and Social Behav. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Kim, Sohye; Soeken, Timothy A.; Cromer, Sara J.; Martinez, Sheila R.; Hardy, Leah R.; Strathearn, Lane] Baylor Coll Med, Houston, TX 77030 USA.
[Kim, Sohye; Martinez, Sheila R.; Hardy, Leah R.; Strathearn, Lane] Baylor Coll Med, Dept Pediat, Childrens Nutr Res Ctr, Attachment & Neurodev Lab, Houston, TX 77030 USA.
[Kim, Sohye; Strathearn, Lane] Baylor Coll Med, Menninger Dept Psychiat & Behav Sci, Houston, TX 77030 USA.
[Strathearn, Lane] Texas Childrens Hosp, Meyer Ctr Dev Pediat, Houston, TX 77054 USA.
RP Strathearn, L (reprint author), Baylor Coll Med, Texas Childrens Hosp, Dept Pediat, Attachmen & Neurodev Lab,Childrens Nutr Res Ctr, 1100 Bates St,Suite 4004 B, Houston, TX 77030 USA.
EM lanes@bcm.edu
FU Eunice Kennedy Shriver National Institute of Child Health and Human
Development [R01HD065819]; National Institute on Drug Abuse
[R01DA026437]
FX This work was supported by the Eunice Kennedy Shriver National Institute
of Child Health and Human Development [R01HD065819]; and the National
Institute on Drug Abuse [R01DA026437]. The content is solely the
responsibility of the authors and does not necessarily represent the
official views of these institutes or the National Institutes of Health.
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NR 242
TC 4
Z9 5
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD SEP 11
PY 2014
VL 1580
SI SI
BP 219
EP 232
DI 10.1016/j.brainres.2013.11.009
PG 14
WC Neurosciences
SC Neurosciences & Neurology
GA AQ1MS
UT WOS:000342546100017
PM 24239932
ER
PT J
AU Duzyj, CM
Paidas, MJ
Jebailey, L
Huang, JS
Barnea, ER
AF Duzyj, Christina M.
Paidas, Michael J.
Jebailey, Lellean
Huang, Jing Shun
Barnea, Eytan R.
TI PreImplantation factor (PIF*) promotes embryotrophic and neuroprotective
decidual genes: effect negated by epidermal growth factor
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Embryogenesis; Neural development; Preimplantation factor (PIF); Neural
disease; Uterine environment
ID QUINONE REDUCTASE-ACTIVITY; 1ST TRIMESTER; INTERACTING PROTEIN;
MULTIPLE-SCLEROSIS; EMBRYO DEVELOPMENT; CEREBRAL-CORTEX; CELL-LINES;
EXPRESSION; DIFFERENTIATION; TISSUES
AB Background: Intimate embryo-maternal interaction is paramount for pregnancy success post-implantation. The embryo follows a specific developmental timeline starting with neural system, dependent on endogenous and decidual factors. Beyond altered genetics/epigenetics, post-natal diseases may initiate at prenatal/neonatal, post-natal period, or through a continuum. Preimplantation factor (PIF) secreted by viable embryos promotes implantation and trophoblast invasion. Synthetic PIF reverses neuroinflammation in non-pregnant models. PIF targets embryo proteins that protect against oxidative stress and protein misfolding. We report of PIF's embryotrophic role and potential to prevent developmental disorders by regulating uterine milieu at implantation and first trimester.
Methods: PIF's effect on human implantation (human endometrial stromal cells (HESC)) and first-trimester decidua cultures (FTDC) was examined, by global gene expression (Affymetrix), disease-biomarkers ranking (GeneGo), neuro-specific genes (Ingenuity) and proteins (mass-spectrometry). PIF co-cultured epidermal growth factor (EGF) in both HESC and FTDC (Affymetrix) was evaluated.
Results: In HESC, PIF promotes neural differentiation and transmission genes (TLX2, EPHA10) while inhibiting retinoic acid receptor gene, which arrests growth. PIF promotes axon guidance and downregulates EGF-dependent neuroregulin signaling. In FTDC, PIF promotes bone morphogenetic protein pathway (SMAD1, 53-fold) and axonal guidance genes (EPH5) while inhibiting PPP2R2C, negative cell-growth regulator, involved in Alzheimer's and amyotrophic lateral sclerosis. In HESC, PIF affects angiotensin via beta-arrestin, transforming growth factor-beta (TGF-beta), notch, BMP, and wingless-int (WNT) signaling pathways that promote neurogenesis involved in childhood neurodevelopmental diseases-autism and also affected epithelial-mesenchymal transition involved in neuromuscular disorders. In FTDC, PIF upregulates neural development and hormone signaling, while downregulating genes protecting against xenobiotic response leading to connective tissue disorders.
In both HESC and FTDC, PIF affects neural development and transmission pathways. In HESC interactome, PIF promotes FUS gene, which controls genome integrity, while in FTDC, PIF upregulates STAT3 critical transcription signal. EGF abolished PIF's effect on HESC, decreasing metalloproteinase and prolactin receptor genes, thereby interfering with decidualization, while in FTDC, EGF co-cultured with PIF reduced ZHX2, gene that regulates neural AFP secretion.
Conclusions: PIF promotes decidual trophic genes and proteins to regulate neural development. By regulating the uterine milieu, PIF may decrease embryo vulnerability to post-natal neurodevelopmental disorders. Examination of PIF-based intervention strategies used during embryogenesis to improve pregnancy prognosis and reduce post-natal vulnerability is clearly in order.
C1 [Duzyj, Christina M.; Paidas, Michael J.] Yale Univ, Sch Med, Yale Women & Childrens Ctr Blood Disorders, Dept Obstet Gynecol & Reprod Sci, New Haven, CT 06520 USA.
[Jebailey, Lellean] GeneGo Inc, Carlsbad, CA 92008 USA.
[Huang, Jing Shun] Ohio State Univ, Dept Obstet & Gynecol, Reprod Biol Unit, Columbus, OH 43210 USA.
[Barnea, Eytan R.] Soc Invest Early Pregnancy, Cherry Hill, NJ 08003 USA.
[Barnea, Eytan R.] BioIncept LLC PIF Proprietary, Cherry Hill, NJ 08003 USA.
RP Barnea, ER (reprint author), Soc Invest Early Pregnancy, 1697 Lark Lane, Cherry Hill, NJ 08003 USA.
EM Barnea@earlypregnancy.org
FU BioIncept, LLC; National Institutes of Health [5R01HD056123-02]
FX This work was supported through an unrestricted grant by BioIncept, LLC
(MJP) and National Institutes of Health (grant number 5R01HD056123-02)
(SJH). All other authors declare no competing interests.
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NR 64
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD SEP 11
PY 2014
VL 6
AR 36
DI 10.1186/1866-1955-6-36
PG 18
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AP8ZR
UT WOS:000342368500001
ER
PT J
AU Cai, XY
Evrony, GD
Lehmann, HS
Elhosary, PC
Mehta, BK
Poduri, A
Walsh, CA
AF Cai, Xuyu
Evrony, Gilad D.
Lehmann, Hillel S.
Elhosary, Princess C.
Mehta, Bhaven K.
Poduri, Annapurna
Walsh, Christopher A.
TI Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic
Copy-Number Variation in the Human Brain
SO CELL REPORTS
LA English
DT Article
ID RARE DE-NOVO; MUTATIONS; DISEASE; NUCLEOTIDE; DISORDERS; NEURONS;
AUTISM; TUMOR
AB De novo copy-number variants (CNVs) can cause neuropsychiatric disease, but the degree to which they occur somatically, and during development, is unknown. Single-cell whole-genome sequencing (WGS) in >200 single cells, including >160 neurons from three normal and two pathological human brains, sensitively identified germline trisomy of chromosome 18 but found most (>= 95%) neurons in normal brain tissue to be euploid. Analysis of a patient with hemimegalencephaly (HMG) due to a somatic CNV of chromosome 1q found unexpected tetrasomy 1q in similar to 20% of neurons, suggesting that CNVs in a minority of cells can cause widespread brain dysfunction. Single-cell analysis identified large (>1 Mb) clonal CNVs in lymphoblasts and in single neurons from normal human brain tissue, suggesting that some CNVs occur during neurogenesis. Many neurons contained one or more large candidate private CNVs, including one at chromosome 15q13.2-13.3, a site of duplication in neuropsychiatric conditions. Large private and clonal somatic CNVs occur in normal and diseased human brains.
C1 [Cai, Xuyu; Evrony, Gilad D.; Lehmann, Hillel S.; Elhosary, Princess C.; Mehta, Bhaven K.; Poduri, Annapurna; Walsh, Christopher A.] Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Div Genet & Genom, Boston, MA 02115 USA.
[Cai, Xuyu; Evrony, Gilad D.; Lehmann, Hillel S.; Elhosary, Princess C.; Mehta, Bhaven K.; Poduri, Annapurna; Walsh, Christopher A.] Boston Childrens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA.
[Cai, Xuyu; Evrony, Gilad D.; Lehmann, Hillel S.; Elhosary, Princess C.; Mehta, Bhaven K.; Poduri, Annapurna; Walsh, Christopher A.] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA.
[Cai, Xuyu; Evrony, Gilad D.; Lehmann, Hillel S.; Elhosary, Princess C.; Mehta, Bhaven K.; Poduri, Annapurna; Walsh, Christopher A.] Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA 02138 USA.
[Cai, Xuyu; Evrony, Gilad D.; Walsh, Christopher A.] Harvard Univ, Sch Med, Program Biol & Biomed Sci, Boston, MA 02115 USA.
[Poduri, Annapurna] Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.
[Poduri, Annapurna] Harvard Univ, Sch Med, Boston, MA 02115 USA.
RP Walsh, CA (reprint author), Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Div Genet & Genom, Boston, MA 02115 USA.
EM christopher.walsh@childrens.harvard.edu
FU NIGMS [T32GM007726]; NIH MSTP grant [T32GM007753]; Louis Lange III
Scholarship in Translational Research; NINDS [R01NS079277, R01NS035129];
NIMH [1RC2MH089952]; Manton Center for Orphan Disease Research
FX X. C. was supported by the NIGMS (T32GM007726) and was a Stuart H. Q.
and Victoria Quan Fellow in Neuroscience. G. D. E. was supported by NIH
MSTP grant T32GM007753 and by the Louis Lange III Scholarship in
Translational Research. C. A. W. was supported by the NINDS (R01NS079277
and R01NS035129), the NIMH (1RC2MH089952), and the Manton Center for
Orphan Disease Research. C. A. W. is a Distinguished Investigator of the
Paul G. Allen Family Foundation and is an Investigator of the Howard
Hughes Medical Institute.
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NR 31
TC 11
Z9 11
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 2211-1247
J9 CELL REP
JI Cell Reports
PD SEP 11
PY 2014
VL 8
IS 5
BP 1280
EP 1289
DI 10.1016/j.celrep.2014.07.043
PG 10
WC Cell Biology
SC Cell Biology
GA AO8AO
UT WOS:000341574800006
PM 25159146
ER
PT J
AU Chuang, HC
Huang, TN
Hsueh, YP
AF Chuang, Hsiu-Chun
Huang, Tzyy-Nan
Hsueh, Yi-Ping
TI Neuronal excitation upregulates Tbr1, a high-confidence risk gene of
autism mediating Grin2b expression in the adult brain
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Article
DE autism; Grin2b; immediate early gene; neuronal activation; Tbr1
ID IMMEDIATE-EARLY GENES; DE-NOVO MUTATIONS; NERVOUS-SYSTEM; BASOLATERAL
AMYGDALA; SYNAPTIC PLASTICITY; SPECTRUM DISORDERS; MENTAL-RETARDATION;
SOCIAL-BEHAVIOR; CEREBRAL-CORTEX; CYCLOSPORINE-A
AB The activity-regulated gene expression of transcription factors is required for neural plasticity and function in response to neuronal stimulation. T-brain-1 (TBR1), a critical neuron-specific transcription factor for forebrain development, has been recognized as a high-confidence risk gene for autism spectrum disorders. Here, we show that in addition to its role in brain development, Tbr1 responds to neuronal activation and further modulates the Grin2b expression in adult brains and mature neurons. The expression levels of Tbr1 were investigated using both immunostaining and quantitative reverse transcription polymerase chain reaction (RT-PCR) analyses. We found that the mRNA and protein expression levels of Tbr1 are induced by excitatory synaptic transmission driven by bicuculline or glutamate treatment in cultured mature neurons. The upregulation of Tbr1 expression requires the activation of both alpha-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid (AMPA) and N-methyl-D-aspartate (NMDA) receptors. Furthermore, behavioral training triggers Tbr1 induction in the adult mouse brain. The elevation of Tbr1 expression is associated with Grin2b upregulation in both mature neurons and adult brains. Using Tbr1-deficient neurons, we further demonstrated that TBR1 is required for the induction of Grin2b upon neuronal activation. Taken together with the previous studies showing that TBR1 binds the Grin2b promoter and controls expression of luciferase reporter driven by Grin2b promoter, the evidence suggests that TBR1 directly controls Grin2b expression in mature neurons. We also found that the addition of the calcium/calmodulin-dependent protein kinase II (CaMKII) antagonist KN-93, but not the calcium-dependent phosphatase calcineurin antagonist cyclosporin A, to cultured mature neurons noticeably inhibited Tbr1 induction, indicating that neuronal activation upregulates Tbr1 expression in a CaMKII-dependent manner. In conclusion, our study suggests that Tbr1 plays an important role in adult mouse brains in response to neuronal activation to modulate the activity-regulated gene transcription required for neural plasticity.
C1 [Chuang, Hsiu-Chun; Hsueh, Yi-Ping] Natl Def Med Ctr, Grad Inst Life Sci, Taipei, Taiwan.
[Chuang, Hsiu-Chun; Huang, Tzyy-Nan; Hsueh, Yi-Ping] Acad Sinica, Inst Mol Biol, Taipei 11529, Taiwan.
RP Hsueh, YP (reprint author), Acad Sinica, Inst Mol Biol, 128 Acad Rd,Sect 2, Taipei 11529, Taiwan.
EM yph@gate.sinica.edu.tw
FU Academia Sinica [AS-103-TP-B05]; Ministry of Science and Technology
(MOST) [102-2321-B-001-029, 102-2321-B-001.054, 103-2321-B-001-002,
103-2321-B-001-018]
FX We thank Profs. John Rubenstein and Robert Hevner for the
Tbr1+/- mice, the Genomic Core of the Institute of Molecular
Biology, Academia Sinica, for the technical assistance and members of
the Hsueh lab for relabeling samples for the blind test. This work was
supported by grants from the Academia Sinica (AS-103-TP-B05 to Yi-Ping
Hsueh) and the Ministry of Science and Technology (MOST
102-2321-B-001-029, 102-2321-B-001.054, 103-2321-B-001-002, and
103-2321-B-001-018 to Yi-Ping Hsueh).
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NR 66
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5102
J9 FRONT CELL NEUROSCI
JI Front. Cell. Neurosci.
PD SEP 10
PY 2014
VL 8
AR 280
DI 10.3389/fncel.2014.00280
PG 13
WC Neurosciences
SC Neurosciences & Neurology
GA AS7XC
UT WOS:000344464100001
PM 25309323
ER
PT J
AU Xu, X
Miller, EC
Pozzo-Miller, L
AF Xu, Xin
Miller, Eric C.
Pozzo-Miller, Lucas
TI Dendritic spine dysgenesis in Rett syndrome
SO FRONTIERS IN NEUROANATOMY
LA English
DT Review
DE MeCP2; BDNF; excitatory synapse; spine density; hippocampus; organotypic
slice cultures,TrkB; autism spectrum disorder
ID MECP2 MUTANT MICE; GROWTH-FACTOR-I; NEUROTROPHIC FACTOR EXPRESSION;
ACTIVITY-DEPENDENT SECRETION; CPG-BINDING PROTEIN-2;
HIPPOCAMPAL-NEURONS; MOUSE MODEL; SYNAPTIC PLASTICITY; PYRAMIDAL
NEURONS; CEREBRAL-CORTEX
AB Spines are small cytoplasmic extensions of dendrites that form the postsynaptic compartment of the majority of excitatory synapses in the mammalian brain. Alterations in the numerical density, size, and shape of dendritic spines have been correlated with neuronal dysfunction in several neurological and neurodevelopmental disorders associated with intellectual disability, including Rett syndrome (Rh). RTT is a progressive neurodevelopmental disorder associated with intellectual disability that is caused by loss of function mutations in the transcriptional regulator methyl CpG-binding protein 2 (MECP2). Here, we review the evidence demonstrating that principal neurons in Rh individuals and Mecp2based experimental models exhibit alterations in the number and morphology of dendritic spines. We also discuss the exciting possibility that signaling pathways downstream of brain-derived neurotrophic factor (BDNF), which is transcriptionally regulated by MeCP2, offer promising therapeutic options for modulating dendritic spine development and plasticity in Rh and other MECP2-associated neurodevelopmental disorders.
C1 [Xu, Xin; Miller, Eric C.; Pozzo-Miller, Lucas] Univ Alabama Birmingham, Dept Neurobiol, Civitan Int Res Ctr, Birmingham, AL 35294 USA.
RP Pozzo-Miller, L (reprint author), Univ Alabama Birmingham, Dept Neurobiol, Civitan Int Res Ctr, SHEL-1002,1825 Univ Blvd, Birmingham, AL 35294 USA.
EM lucaspm@uab.edu
FU NIH [NS-065027, HD-074418]
FX This work was supported by NIH grants NS-065027 and HD-074418 (to Lucas
Pozzo-Miller). We are indebted to Chris Chapleau, Wei Li, and Mary
Phillips for thoughtful discussions.
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NR 120
TC 1
Z9 2
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5129
J9 FRONT NEUROANAT
JI Front. Neuroanat.
PD SEP 10
PY 2014
VL 8
AR 97
DI 10.3389/fnana.2014.00097
PG 8
WC Anatomy & Morphology; Neurosciences
SC Anatomy & Morphology; Neurosciences & Neurology
GA AO5IA
UT WOS:000341376300001
PM 25309341
ER
PT J
AU Hampton, T
AF Hampton, Tracy
TI Autism, Trauma Care Bills Passed
SO JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
LA English
DT News Item
NR 0
TC 0
Z9 0
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA
SN 0098-7484
EI 1538-3598
J9 JAMA-J AM MED ASSOC
JI JAMA-J. Am. Med. Assoc.
PD SEP 10
PY 2014
VL 312
IS 10
BP 991
EP 991
PG 1
WC Medicine, General & Internal
SC General & Internal Medicine
GA AO5LF
UT WOS:000341385600004
ER
PT J
AU Laugeray, A
Herzine, A
Perche, O
Richard, O
Menuet, A
Mazaud-Guittot, S
Lesne, L
Briault, S
Jegou, B
Pichon, J
Montecot-Dubourg, C
Mortaud, S
AF Laugeray, Anthony
Herzine, Ameziane
Perche, Olivier
Richard, Olivier
Menuet, Arnaud
Mazaud-Guittot, Severine
Lesne, Laurianne
Briault, Sylvain
Jegou, Bernard
Pichon, Jacques
Montecot-Dubourg, Celine
Mortaud, Stephane
TI Perinatal exposure to low dose glufosinate ammonium induces autism-like
phenotypes in mice
SO TOXICOLOGY LETTERS
LA English
DT Meeting Abstract
CT 50th Congress of the European-Societies-of-Toxicology
CY SEP 07-10, 2014
CL Edinburgh, SCOTLAND
SP European Soc Toxicol, British Toxicol Soc, Soc Toxicol
DE Glufosinate ammonium; Autistic Spectrum Disorders; Perinatal exposure
neurodevelopment; Mice
C1 [Laugeray, Anthony; Herzine, Ameziane; Perche, Olivier; Richard, Olivier; Menuet, Arnaud; Briault, Sylvain; Pichon, Jacques; Montecot-Dubourg, Celine; Mortaud, Stephane] CNRS, UMR7355, F-45071 Orleans, France.
[Herzine, Ameziane; Richard, Olivier; Menuet, Arnaud; Pichon, Jacques; Montecot-Dubourg, Celine; Mortaud, Stephane] Univ Orleans, Orleans, France.
[Perche, Olivier; Briault, Sylvain] Ctr Hosp Reg, Dept Genet, Orleans, France.
[Mazaud-Guittot, Severine; Lesne, Laurianne; Jegou, Bernard] Univ Rennes 1, INSERM, U1085, IRSET, Rennes, France.
NR 0
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0378-4274
EI 1879-3169
J9 TOXICOL LETT
JI Toxicol. Lett.
PD SEP 10
PY 2014
VL 229
SU S
MA P-1.12
BP S43
EP S43
DI 10.1016/j.toxlet.2014.06.191
PG 1
WC Toxicology
SC Toxicology
GA AO2FY
UT WOS:000341134000137
ER
PT J
AU Crider, A
Thakkar, R
Ahmed, AO
Pillai, A
AF Crider, Amanda
Thakkar, Roshni
Ahmed, Anthony O.
Pillai, Anilkumar
TI Dysregulation of estrogen receptor beta (ER beta), aromatase (CYP19A1),
and ER co-activators in the middle frontal gyrus of autism spectrum
disorder subjects
SO MOLECULAR AUTISM
LA English
DT Article
DE Aromatase; Autism; Estrogen; Receptor; Sex
ID NEUROPSYCHIATRIC DISORDERS; TRANSCRIPTIONAL ACTIVATION; CO-REPRESSORS;
BRAIN; BEHAVIOR; ANXIETY; GENE; MICE; EXPRESSION; STEROIDS
AB Background: Autism spectrum disorders (ASD) are much more common in males than in females. Molecular alterations within the estrogen receptor (ER) signaling pathway may contribute to the sex difference in ASD, but the extent of such abnormalities in the brain is not known.
Methods: Postmortem middle frontal gyrus tissues (13 ASD and 13 control subjects) were used. The protein levels were examined by western blotting. The gene expression was determined by qRT-PCR.
Results: Gene expression analysis identified a 35% decrease in ER beta mRNA expression in the middle frontal gyrus of ASD subjects. In addition, a 38% reduction in aromatase (CYP19A1) mRNA expression was observed in ASD subjects. We also found significant decreases in ER co-activators that included a 34% decrease in SRC-1, a 77% decrease in CBP, and a 52% decrease in P/CAF mRNA levels in ASD subjects relative to controls. There were no differences in the mRNA levels of TIF-2, AIB-1 (ER co-activators), ER co-repressors (SMRT and nCoR) and ERa in the middle frontal gyrus of ASD subjects as compared to controls. We observed significant correlations between ER beta, CYP19A1, and co-activators in the study subjects. Immunoblot analysis further confirmed the changes in ER beta and aromatase at the protein level in the control and ASD subjects.
Conclusions: These results, for the first time, provide the evidence of the dysregulation of ER beta and co-factors in the brain of subjects with ASD.
C1 [Crider, Amanda; Ahmed, Anthony O.; Pillai, Anilkumar] Georgia Regents Univ, Med Coll Georgia, Dept Psychiat & Hlth Behav, Augusta, GA 30912 USA.
[Thakkar, Roshni] Georgia Regents Univ, Med Coll Georgia, Dept Neurosci & Regenerat Med, Augusta, GA 30912 USA.
RP Pillai, A (reprint author), Georgia Regents Univ, Med Coll Georgia, Dept Psychiat & Hlth Behav, 997 St Sebastian Way, Augusta, GA 30912 USA.
EM apillai@gru.edu
FU NIH [HHSN275200900011C, NO1-HD-9-0011]
FX The authors would like to thank Diya Peter for her technical assistance.
Human postmortem samples were obtained from the NICHD Brain and Tissue
Bank for Developmental Disorders at the University of Maryland,
Baltimore, MD, USA. The Bank is funded by NIH Contract No.
#HHSN275200900011C, Ref. No. NO1-HD-9-0011.
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Wang L, 2003, P NATL ACAD SCI USA, V100, P703, DOI 10.1073/pnas.242735799
Weiser MJ, 2009, ENDOCRINOLOGY, V150, P1817, DOI 10.1210/en.2008-1355
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Zikopoulos B, 2013, FRONT HUM NEUROSCI, V7, P1, DOI 10.3389/fnhum.2013.00609
NR 41
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD SEP 9
PY 2014
VL 5
AR 46
DI 10.1186/2040-2392-5-46
PG 10
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AO9GU
UT WOS:000341664900001
PM 25221668
ER
PT J
AU Puckering, C
Allely, CS
Doolin, O
Purves, D
McConnachie, A
Johnson, PCD
Marwick, H
Heron, J
Golding, J
Gillberg, C
Wilson, P
AF Puckering, Christine
Allely, Clare S.
Doolin, Orla
Purves, David
McConnachie, Alex
Johnson, Paul C. D.
Marwick, Helen
Heron, Jon
Golding, Jean
Gillberg, Christopher
Wilson, Philip
TI Association between parent-infant interactions in infancy and disruptive
behaviour disorders at age seven: a nested, case-control ALSPAC study
SO BMC PEDIATRICS
LA English
DT Article
DE ALSPAC; Disruptive behaviour disorders; Parent-infant interactions;
Mellow Parenting Observation System
ID CONDUCT DISORDER; ANTISOCIAL-BEHAVIOR; CONTROLLED-TRIAL; CHILD; RISK;
PSYCHOPATHOLOGY; COHORT; BOYS; INTERVENTION
AB Background: Effective early intervention to prevent oppositional/conduct disorders requires early identification of children at risk. Patterns of parent-child interaction may predict oppositional/conduct disorders but large community-based prospective studies are needed to evaluate this possibility.
Methods: We sought to examine whether the Mellow Parenting Observational System (MPOS) used to assess parent-infant interactions at one year was associated with psychopathology at age 7. The MPOS assesses positive and negative interactions between parent and child. It examines six dimensions: anticipation of child's needs, responsiveness, autonomy, cooperation, containment of child distress, and control/conflict; these are summed to produce measures of total positive and negative interactions. We examined videos from the Avon Longitudinal Study of Parents and Children (ALSPAC) sub-cohort who attended the 'Children in Focus' clinic at one year of age. Our sample comprised 180 videos of parent-infant interaction: 60 from infants who received a psychiatric diagnostic categorisation at seven years and 120 randomly selected controls who were group-matched on sex.
Results: A negative association between positive interactions and oppositional/conduct disorders was found. With the exception of pervasive developmental disorders (autism), an increase of one positive interaction per minute predicted a 15% (95% CI: 4% to 26%) reduction in the odds of the infant being case diagnosed. There was no statistically significant relationship between negative parenting interactions and oppositional/conduct disorders, although negative interactions were rarely observed in this setting.
Conclusions: The Mellow Parenting Observation System, specifically low scores for positive parenting interactions (such as Responsiveness which encompasses parental warmth towards the infant), predicted later psychiatric diagnostic categorisation of oppositional/conduct disorders.
C1 [Puckering, Christine; Gillberg, Christopher] Univ Glasgow, RHSC Yorkhill, Inst Hlth & Wellbeing, Glasgow G3 8SJ, Lanark, Scotland.
[Allely, Clare S.] Univ Salford, Sch Hlth Sci, Salford M6 6PU, Lancs, England.
[Doolin, Orla; Purves, David; McConnachie, Alex; Johnson, Paul C. D.] Univ Glasgow, Robertson Ctr Biostat, Glasgow G12 8QQ, Lanark, Scotland.
[Marwick, Helen] Univ Strathclyde, Natl Ctr Autism Studies, Glasgow G1 1XQ, Lanark, Scotland.
[Heron, Jon] Univ Bristol, Sch Social & Community Med, Ctr Child & Adolescent Hlth, Bristol, Avon, England.
[Golding, Jean] Univ Bristol, Sch Social & Community Med, Ctr Mental Hlth Addict & Suicide Res, Bristol, Avon, England.
[Wilson, Philip] Univ Aberdeen, Ctr Hlth Sci, Ctr Rural Hlth, Inverness IV2 3JH, Scotland.
RP McConnachie, A (reprint author), Univ Glasgow, Robertson Ctr Biostat, Boyd Orr Bldg, Glasgow G12 8QQ, Lanark, Scotland.
EM alex.mcconnachie@glasgow.ac.uk
RI Johnson, Paul/O-9695-2014
OI Johnson, Paul/0000-0001-6663-7520
FU Yorkhill Children's Foundation; Gillberg Neuropsychiatry Centre;
Waterloo Foundation
FX ALSPAC currently receives core support from Wellcome Trust, Medical
Research Council and the University of Bristol. This project was
specifically funded by small grants from the Yorkhill Children's
Foundation, the Gillberg Neuropsychiatry Centre and the Waterloo
Foundation. This article is the work of the authors, and Philip Wilson
will serve as guarantor for the contents of this article.
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NR 37
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-2431
J9 BMC PEDIATR
JI BMC Pediatr.
PD SEP 6
PY 2014
VL 14
AR 223
DI 10.1186/1471-2431-14-223
PG 8
WC Pediatrics
SC Pediatrics
GA AP6DT
UT WOS:000342168400001
PM 25193601
ER
PT J
AU Arrieta, MC
Stiemsma, LT
Amenyogbe, N
Brown, EM
Finlay, B
AF Arrieta, Marie-Claire
Stiemsma, Leah T.
Amenyogbe, Nelly
Brown, Eric M.
Finlay, Brett
TI The intestinal microbiome in early life: health and disease
SO FRONTIERS IN IMMUNOLOGY
LA English
DT Review
DE child microbiota; intestinal microbiota; immune-mediated disease;
pediatric disease; intestinal dysbiosis
ID INFLAMMATORY-BOWEL-DISEASE; HUMAN-MILK OLIGOSACCHARIDES; HUMAN GUT
MICROBIOTA; ADVERSE PREGNANCY OUTCOMES; AUTISM SPECTRUM DISORDERS;
BIRTH-WEIGHT INFANTS; REGULATORY T-CELLS; NECROTIZING ENTEROCOLITIS;
BREAST-MILK; FAECALIBACTERIUM-PRAUSNITZII
AB Human microbial colonization begins at birth and continues to develop and modulate in species abundance for about 3 years, until the microbiota becomes adult-like. During the same time period, children experience significant developmental changes that influence their health status as well as their immune system. An ever-expanding number of articles associate several diseases with early-life imbalances of the gut microbiota, also referred to as gut microbial dysbiosis. Whether early-life dysbiosis precedes and plays a role in disease pathogenesis, or simply originates from the disease process itself is a question that is beginning to be answered in a few diseases, including IBD, obesity, and asthma. This review describes the gut microbiome structure and function during the formative first years of life, as well as the environmental factors that determine its composition. It also aims to discuss the recent advances in understanding the role of the early-life gut microbiota in the development of immune-mediated, metabolic, and neurological diseases. A greater understanding of how the early-life gut microbiota impacts our immune development could potentially lead to novel microbial-derived therapies that target disease prevention at an early age.
C1 [Arrieta, Marie-Claire; Brown, Eric M.; Finlay, Brett] Univ British Columbia, Michael Smith Labs, Vancouver, BC V6T 1Z4, Canada.
[Stiemsma, Leah T.; Amenyogbe, Nelly] Univ British Columbia, Child & Family Res Inst, Vancouver, BC V6T 1Z4, Canada.
[Finlay, Brett] Univ British Columbia, Dept Microbiol & Immunol, Vancouver, BC V6T 1Z4, Canada.
[Finlay, Brett] Univ British Columbia, Dept Biochem & Mol Biol, Vancouver, BC V6T 1Z4, Canada.
RP Finlay, B (reprint author), Univ British Columbia, Michael Smith Labs, 301-2185 East Mall, Vancouver, BC V6T 1Z4, Canada.
EM bfinlay@mail.ubc.ca
FU Canadian Institutes of Health Research (CIHR), Genome British Columbia;
Institut Merieux
FX The Brett Finlay lab is funded by grants from the Canadian Institutes of
Health Research (CIHR), Genome British Columbia, and Institut Merieux.
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NR 251
TC 11
Z9 11
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-3224
J9 FRONT IMMUNOL
JI Front. Immunol.
PD SEP 5
PY 2014
VL 5
AR 427
DI 10.3389/fimmu.2014.00427
PG 18
WC Immunology
SC Immunology
GA CI0QH
UT WOS:000354442100002
PM 25250028
ER
PT J
AU Horlin, C
Falkmer, M
Parsons, R
Albrecht, MA
Falkmer, T
AF Horlin, Chiara
Falkmer, Marita
Parsons, Richard
Albrecht, Matthew A.
Falkmer, Torbjorn
TI The Cost of Autism Spectrum Disorders
SO PLOS ONE
LA English
DT Article
ID BEHAVIORAL TREATMENT; MEDIATION ANALYSIS; CHILDREN; INTERVENTION;
DIAGNOSIS; FAMILIES; PARENTS; ADOS; AGE
AB Objective: A diagnosis of an autism spectrum disorders is usually associated with substantial lifetime costs to an individual, their family and the community. However, there remains an elusive factor in any cost-benefit analysis of ASD diagnosis, namely the cost of not obtaining a diagnosis. Given the infeasibility of estimating the costs of a population that, by its nature, is inaccessible, the current study compares expenses between families whose children received a formal ASD diagnosis immediately upon suspecting developmental atypicality and seeking advice, with families that experienced a delay between first suspicion and formal diagnosis.
Design: A register based questionnaire study covering all families with a child with ASD in Western Australia.
Participants: Families with one or more children diagnosed with an ASD, totalling 521 children diagnosed with an ASD; 317 records were able to be included in the final analysis.
Results: The median family cost of ASD was estimated to be AUD $ 34,900 per annum with almost 90% of the sum ($ 29,200) due to loss of income from employment. For each additional symptom reported, approximately $ 1,400 cost for the family per annum was added. While there was little direct influence on costs associated with a delay in the diagnosis, the delay was associated with a modest increase in the number of ASD symptoms, indirectly impacting the cost of ASD.
Conclusions: A delay in diagnosis was associated with an indirect increased financial burden to families. Early and appropriate access to early intervention is known to improve a child's long-term outcomes and reduce lifetime costs to the individual, family and society. Consequently, a per symptom dollar value may assist in allocation of individualised funding amounts for interventions rather than a nominal amount allocated to all children below a certain age, regardless of symptom presentation, as is the case in Western Australia.
C1 [Horlin, Chiara; Falkmer, Marita; Parsons, Richard; Falkmer, Torbjorn] Curtin Univ, Sch Occupat Therapy & Social Work, Perth, WA 6845, Australia.
[Falkmer, Marita] Jonkoping Univ, Inst Disabil Res, Sch Educ & Commun, CHILD Programme, Jonkoping, Sweden.
[Albrecht, Matthew A.] Curtin Univ, Sch Psychol, CHIRI, Perth, WA 6845, Australia.
[Falkmer, Torbjorn] Linkoping Univ, Fac Hlth Sci, Dept Med & Hlth Sci IMH, Linkoping, Sweden.
[Falkmer, Torbjorn] Pain & Rehabil Ctr, Linkoping, Sweden.
[Falkmer, Torbjorn] La Trobe Univ, Sch Occupat Therapy, Melbourne, Vic, Australia.
RP Falkmer, T (reprint author), Curtin Univ, Sch Occupat Therapy & Social Work, Perth, WA 6845, Australia.
EM T.Falkmer@curtin.edu.au
FU Department of Social Services (DSS); Australian Government's Cooperative
Research Centres Program; DSS [RES-HEA-CRD-TB-50940]
FX This study was funded by the Department of Social Services (DSS),
formerly the Department of Families, Housing, Community Services and
Indigenous Affairs (FaHCSIA), with in-kind support of the Autism CRC,
established and supported under the Australian Government's Cooperative
Research Centres Program. The research was also conducted in
collaboration with Disabilities Services Commission Western Australia
(DSC). DSS had no active role in the design, implementation, data
collection, analysis or interpretation of the study. DSC collaborated
with the authors and assisted in data collection by in-kind contribution
of its employee's time in some aspects of the study. Writing of the
report and the decision to submit this manuscript were solely the role
and responsibility of the authors. However, approval to submit this
study for publication was sought from CRC Living with Autism Spectrum
Disorders, DSS and DSC. All researchers are independent from both DSS
and DSC and take full responsibility for the integrity of the data and
the accuracy of the analyses. (DSS grant number - RES-HEA-CRD-TB-50940
http://www.dss.gov.au/)
CR Australian Government, 2013, HELP CHILDR AUT
Consulting SE, 2007, SYNERGIES EC CONSULT
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NR 24
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 5
PY 2014
VL 9
IS 9
AR e106552
DI 10.1371/journal.pone.0106552
PG 11
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AZ1IR
UT WOS:000347993600036
PM 25191755
ER
PT J
AU Nevison, CD
AF Nevison, Cynthia D.
TI A comparison of temporal trends in United States autism prevalence to
trends in suspected environmental factors
SO ENVIRONMENTAL HEALTH
LA English
DT Article
DE Autism; Temporal trends; Air pollution; Mercury; Vaccines;
Organophosphates; PBDEs
ID MERCURY CONCENTRATIONS; OXIDATIVE STRESS; MITOCHONDRIAL DYSFUNCTION;
SPECTRUM DISORDERS; AIR-POLLUTION; AMBIENT AIR; LOS-ANGELES; EXPOSURE;
CHILDREN; ALUMINUM
AB Background: The prevalence of diagnosed autism has increased rapidly over the last several decades among U.S. children. Environmental factors are thought to be driving this increase and a list of the top ten suspected environmental toxins was published recently.
Methods: Temporal trends in autism for birth years 1970-2005 were derived from a combination of data from the California Department of Developmental Services (CDDS) and the United States Individuals with Disabilities Education Act (IDEA). Temporal trends in suspected toxins were derived from data compiled during an extensive literature survey. Toxin and autism trends were compared by visual inspection and computed correlation coefficients. Using IDEA data, autism prevalence vs. birth year trends were calculated independently from snapshots of data from the most recent annual report, and by tracking prevalence at a constant age over many years of reports. The ratio of the snapshot: tracking trend slopes was used to estimate the "real" fraction of the increase in autism.
Results: The CDDS and IDEA data sets are qualitatively consistent in suggesting a strong increase in autism prevalence over recent decades. The quantitative comparison of IDEA snapshot and constant-age tracking trend slopes suggests that similar to 75-80% of the tracked increase in autism since 1988 is due to an actual increase in the disorder rather than to changing diagnostic criteria. Most of the suspected environmental toxins examined have flat or decreasing temporal trends that correlate poorly to the rise in autism. Some, including lead, organochlorine pesticides and vehicular emissions, have strongly decreasing trends. Among the suspected toxins surveyed, polybrominated diphenyl ethers, aluminum adjuvants, and the herbicide glyphosate have increasing trends that correlate positively to the rise in autism.
Conclusions: Diagnosed autism prevalence has risen dramatically in the U.S over the last several decades and continued to trend upward as of birth year 2005. The increase is mainly real and has occurred mostly since the late 1980s. In contrast, children's exposure to most of the top ten toxic compounds has remained flat or decreased over this same time frame. Environmental factors with increasing temporal trends can help suggest hypotheses for drivers of autism that merit further investigation.
C1 Univ Colorado, Inst Arct & Alpine Res, Boulder, CO 80309 USA.
RP Nevison, CD (reprint author), Univ Colorado, Inst Arct & Alpine Res, Boulder, CO 80309 USA.
EM Cynthia.Nevison@colorado.edu
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NR 94
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1476-069X
J9 ENVIRON HEALTH-GLOB
JI Environ. Health
PD SEP 5
PY 2014
VL 13
AR 73
DI 10.1186/1476-069X-13-73
PG 16
WC Environmental Sciences; Public, Environmental & Occupational Health
SC Environmental Sciences & Ecology; Public, Environmental & Occupational
Health
GA AP4KC
UT WOS:000342044600001
PM 25189402
ER
PT J
AU Camacho, J
Ejaz, E
Ariza, J
Noctor, SC
Martinez-Cerdeno, V
AF Camacho, Jasmin
Ejaz, Ehsan
Ariza, Jeanelle
Noctor, Stephen C.
Martinez-Cerdeno, Veronica
TI RELN-expressing neuron density in layer I of the superior temporal lobe
is similar in human brains with autism and in age-matched controls
SO NEUROSCIENCE LETTERS
LA English
DT Article
DE Autism; Reelin; Superior temporal cortex; Layer I; Cajal-Retzius cells;
Postmortem
ID REELIN-IMMUNOREACTIVE NEURONS; CAJAL-RETZIUS CELL; NEOCORTEX; MOUSE;
SCHIZOPHRENIA; CORTEX; INTERNEURONS; LOCALIZATION; HIPPOCAMPUS;
POPULATION
AB Reelin protein (RELN) level is reduced in the cerebral cortex and cerebellum of subjects with autism. RELN is synthesized and secreted by a subpopulation of neurons in the developing cerebral cortex termed Cajal-Retzius (CR) cells. These cells are abundant in the marginal zone during cortical development, many die after development is complete, but a small population persists into adulthood. In adult brains, RELN is secreted by the surviving CR cells, by a subset of GABAergic interneurons in layer I, and by pyramidal cells and GABAergic interneurons in deeper cortical layers. It is widely believed that decreased RELN in layer I of the cerebral cortex of subjects with autism may result from a decrease in the density of RELN expressing neurons in layer I; however, this hypothesis has not been tested. We examined RELN expression in layer I of the adult human cortex and found that 70% of cells express RELN in both control and autistic subjects. We quantified the density of neurons in layer I of the superior temporal cortex of subjects with autism and age-matched control subjects. Our data show that there is no change in the density of neurons in layer I of the cortex of subjects with autism, and therefore suggest that reduced RELN expression in the cerebral cortex of subjects with autism is not a consequence of decreased numbers of RELN-expressing neurons in layer I. Instead reduced RELN may result from abnormal RELN processing, or a decrease in the number of other RELN-expressing neuronal cell types. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Camacho, Jasmin; Ejaz, Ehsan; Ariza, Jeanelle; Martinez-Cerdeno, Veronica] Shriners Hosp Children Northern Calif, Inst Pediat Regenerat Med, Sacramento, CA USA.
[Martinez-Cerdeno, Veronica] Univ Calif Davis, Dept Pathol & Lab Med, Sch Med, Sacramento, CA USA.
[Noctor, Stephen C.] Univ Calif Davis, Dept Psychiat, Sch Med, Sacramento, CA USA.
[Noctor, Stephen C.; Martinez-Cerdeno, Veronica] Univ Calif Davis, MIND Inst, Sacramento, CA USA.
RP Martinez-Cerdeno, V (reprint author), 2425 Stockton BLVD, Sacramento, CA USA.
EM vmartinezcerdeno@ucdavis.edu
FU NIMH [R01-MH094681]; Shriners Hospitals
FX This project was funded by NIMH R01-MH094681 and Shriners Hospitals.
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NR 34
TC 1
Z9 1
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0304-3940
EI 1872-7972
J9 NEUROSCI LETT
JI Neurosci. Lett.
PD SEP 5
PY 2014
VL 579
BP 163
EP 167
DI 10.1016/j.neulet.2014.07.031
PG 5
WC Neurosciences
SC Neurosciences & Neurology
GA AO6SP
UT WOS:000341482100031
PM 25067827
ER
PT J
AU Zhang, K
Hill, K
Labak, S
Blatt, GJ
Soghomonian, JJ
AF Zhang, K.
Hill, K.
Labak, S.
Blatt, G. J.
Soghomonian, J. -J.
TI LOSS OF GLUTAMIC ACID DECARBOXYLASE (GAD67) IN GPR88-EXPRESSING NEURONS
INDUCES LEARNING AND SOCIAL BEHAVIOR DEFICITS IN MICE
SO NEUROSCIENCE
LA English
DT Article
DE striatum; GABA; glutamic acid decarboxylase; learning; social behavior;
conditional knockout
ID FRAGILE-X-SYNDROME; GAMMA-AMINOBUTYRIC-ACID; BASAL GANGLIA; GABA
SYNTHESIS; MOUSE MODEL; REPETITIVE BEHAVIOR; WATER MAZE; AUTISM;
INHIBITION; STRIATUM
AB GABA is the neurotransmitter of striatal projection neurons, however the contribution of the striatal GABAergic output to behavior is not well understood. We assessed motor function, spatial learning, social behavior, olfactory and object recognition preferences in mice lacking the GABA-synthesizing enzyme glutamic acid decarboxylase, Gad67, in neurons expressing the protein Gpr88, an orphan G-protein-coupled receptor primarily expressed in the striatum. Gad67-deficient mice show no impairments in motor coordination and balance, but exhibit enhanced locomotor activity and stereotypic grooming behavior. Furthermore, Gad67-deficient mice show impairments in spatial learning, social behavior, olfactory preferences, and they prefer a familiar compared to a novel object in the object recognition test. These findings provide original evidence that striate! Gad67 expression is involved in the modulation of learning and social behavior. Some of the behavioral abnormalities observed in Gad67-deficient mice are reminiscent of Autism-spectrum-disorder (ASD) deficits, suggesting that abnormal striatal GABAergic output may contribute to behavioral deficits in ASD. (C) 2014 IBRO. Published by Elsevier Ltd. All rights reserved.
C1 [Zhang, K.; Hill, K.; Labak, S.; Blatt, G. J.; Soghomonian, J. -J.] Boston Univ, Sch Med, Dept Anat & Neurobiol, Boston, MA 02118 USA.
RP Soghomonian, JJ (reprint author), Boston Univ, Sch Med, Dept Anat & Neurobiol, 72 East Concord St, Boston, MA 02118 USA.
EM jjsogho@bu.edu
FU Michael J. Fox Foundation for Parkinson Disease Research; Hussman
Institute for Autism
FX We thank Dr. Richard Palmiter for sharing his genetically modified mice
and Dr. Subimal Data for access to his elevated-plus maze. Supported by
the Michael J. Fox Foundation for Parkinson Disease Research (J.-J.S.)
and the Hussman Institute for Autism.
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NR 54
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0306-4522
EI 1873-7544
J9 NEUROSCIENCE
JI Neuroscience
PD SEP 5
PY 2014
VL 275
BP 238
EP 247
DI 10.1016/j.neuroscience.2014.06.020
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AM7YB
UT WOS:000340083500022
PM 24952328
ER
PT J
AU Pelullo, CP
Marino, S
Abuadili, AJV
Signoriello, G
Attena, F
AF Pelullo, C. P.
Marino, S.
Abuadili, A. J. Valdes
Signoriello, G.
Attena, F.
TI Is it reasonable to abandon obligatory vaccinations in Italy? A 2013
survey
SO EUROSURVEILLANCE
LA English
DT Article
ID MANDATORY VACCINATIONS; CHILDHOOD VACCINATION; IMMUNIZATION STATUS;
PARENTS; VACCINES; CHILDREN; BELIEFS; RISK; ASSOCIATION; THIMEROSAL
AB In Italy, infant vaccinations are mandatory for four infectious diseases: diphtheria, polio, tetanus and hepatitis B. In the past, there was widespread apprehension in Italy that doing away with obligatory vaccinations would reduce the coverage rate, but the possibility of making vaccinations optional has recently become more popular. The objectives of this study were to investigate parental willingness to vaccinate their children if those vaccinations were no longer mandatory and to evaluate the variables influencing this intention. We conducted face-to-face structured interviews with 1,039 parents at public health vaccination centres in four cities of the Campania region of southern Italy. Most respondents (91.9%) said that they would certainly (69.4%) or probably (22.5%) vaccinate their children if vaccinations were not mandatory. The belief that vaccinations are effective and safe was positively associated with willingness to vaccinate their children, whereas having heard that autism is a possible adverse reaction to vaccination was inversely associated with willingness to vaccinate. Nevertheless, in the context of the relatively low 2012* vaccination coverage rates in Campania (under the national standard of 95%), our results suggest that eliminating mandatory vaccinations is likely to lead to current coverage rates decreasing to unacceptably low levels, significantly below 90%.
C1 [Pelullo, C. P.; Marino, S.; Abuadili, A. J. Valdes] Univ Naples 2, Sch Hyg & Prevent Med, Naples, Italy.
[Signoriello, G.] Univ Naples 2, Med Stat Unit, Naples, Italy.
[Attena, F.] Univ Naples 2, Dept Expt Med, Naples, Italy.
RP Pelullo, CP (reprint author), Univ Naples 2, Sch Hyg & Prevent Med, Naples, Italy.
EM francesco.attena@unina2.it
CR [Anonymous], PIAN NAZ PREV VACC 2
[Anonymous], 2014, AD MANT EROG LEA ATT
[Anonymous], 2012, REP SULL VACC ANN 20
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NR 27
TC 0
Z9 0
PU EUR CENTRE DIS PREVENTION & CONTROL
PI STOCKHOLM
PA TOMTEBODAVAGEN 11A, STOCKHOLM, 171 83, SWEDEN
SN 1560-7917
J9 EUROSURVEILLANCE
JI Eurosurveillance
PD SEP 4
PY 2014
VL 19
IS 35
BP 27
EP 33
AR 20889
PG 7
WC Infectious Diseases
SC Infectious Diseases
GA AO8RR
UT WOS:000341622400004
ER
PT J
AU Radeloff, D
Ciaramidaro, A
Siniatchkin, M
Hainz, D
Schlitt, S
Weber, B
Poustka, F
Bolte, S
Walter, H
Freitag, CM
AF Radeloff, Daniel
Ciaramidaro, Angela
Siniatchkin, Michael
Hainz, Daniela
Schlitt, Sabine
Weber, Bernhard
Poustka, Fritz
Boelte, Sven
Walter, Henrik
Freitag, Christine Margarete
TI Structural Alterations of the Social Brain: A Comparison between
Schizophrenia and Autism
SO PLOS ONE
LA English
DT Article
ID MEDIAL PREFRONTAL CORTEX; LIKELIHOOD ESTIMATION METAANALYSIS; FUNCTIONAL
MAGNETIC-RESONANCE; CEREBRAL-BLOOD-FLOW; SPECTRUM DISORDERS; AUDITORY
HALLUCINATIONS; NEURAL SYSTEMS; ASPERGER-SYNDROME; 1ST-EPISODE
SCHIZOPHRENIA; INSULAR DYSFUNCTION
AB Autism spectrum disorder and schizophrenia share a substantial number of etiologic and phenotypic characteristics. Still, no direct comparison of both disorders has been performed to identify differences and commonalities in brain structure. In this voxel based morphometry study, 34 patients with autism spectrum disorder, 21 patients with schizophrenia and 26 typically developed control subjects were included to identify global and regional brain volume alterations. No global gray matter or white matter differences were found between groups. In regional data, patients with autism spectrum disorder compared to typically developed control subjects showed smaller gray matter volume in the amygdala, insula, and anterior medial prefrontal cortex. Compared to patients with schizophrenia, patients with autism spectrum disorder displayed smaller gray matter volume in the left insula. Disorder specific positive correlations were found between mentalizing ability and left amygdala volume in autism spectrum disorder, and hallucinatory behavior and insula volume in schizophrenia. Results suggest the involvement of social brain areas in both disorders. Further studies are needed to replicate these findings and to quantify the amount of distinct and overlapping neural correlates in autism spectrum disorder and schizophrenia.
C1 [Radeloff, Daniel; Ciaramidaro, Angela; Siniatchkin, Michael; Hainz, Daniela; Schlitt, Sabine; Poustka, Fritz; Boelte, Sven; Freitag, Christine Margarete] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60054 Frankfurt, Germany.
[Weber, Bernhard; Walter, Henrik] Goethe Univ Frankfurt, Dept Psychiat Psychosomat & Psychotherapy, D-60054 Frankfurt, Germany.
[Boelte, Sven] Karolinska Inst KIND, Ctr Neurodev Disorders, Dept Womens & Childrens Hlth, Stockholm, Sweden.
[Walter, Henrik] Charite, Dept Psychiat & Psychotherapy, Div Mind & Brain Res, D-13353 Berlin, Germany.
[Weber, Bernhard] Univ Basel, Psychiat Univ Clin, Basel, Switzerland.
RP Radeloff, D (reprint author), Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60054 Frankfurt, Germany.
EM daniel.radeloff@kgu.de
RI Walter, Henrik/O-2612-2013
FU Swedish Research Council [523-2009-7054]; LOEWE-Program 'Neuronal
Coordination Research Focus Frankfurt' (NeFF)
FX The study was partly supported by the Swedish Research Council (grant
nr. 523-2009-7054) and by the LOEWE-Program 'Neuronal Coordination
Research Focus Frankfurt' (NeFF). The funders had no role in study
design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 123
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 4
PY 2014
VL 9
IS 9
AR e106539
DI 10.1371/journal.pone.0106539
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO3XV
UT WOS:000341271500051
PM 25188200
ER
PT J
AU Spisak, T
Jakab, A
Kis, SA
Opposits, G
Aranyi, C
Berenyi, E
Emri, M
AF Spisak, Tamas
Jakab, Andras
Kis, Sandor A.
Opposits, Gabor
Aranyi, Csaba
Berenyi, Ervin
Emri, Miklos
TI Voxel-Wise Motion Artifacts in Population-Level Whole-Brain Connectivity
Analysis of Resting-State fMRI
SO PLOS ONE
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; GLOBAL SIGNAL REGRESSION; FUNCTIONAL
CONNECTIVITY; CEREBRAL-CORTEX; SUBJECT MOTION; HEAD MOTION; MRI;
REGISTRATION; NETWORKS; IMPACT
AB Functional Magnetic Resonance Imaging (fMRI) based brain connectivity analysis maps the functional networks of the brain by estimating the degree of synchronous neuronal activity between brain regions. Recent studies have demonstrated that "resting-state'' fMRI-based brain connectivity conclusions may be erroneous when motion artifacts have a differential effect on fMRI BOLD signals for between group comparisons. A potential explanation could be that in-scanner displacement, due to rotational components, is not spatially constant in the whole brain. However, this localized nature of motion artifacts is poorly understood and is rarely considered in brain connectivity studies. In this study, we initially demonstrate the local correspondence between head displacement and the changes in the resting-state fMRI BOLD signal. Than, we investigate how connectivity strength is affected by the population-level variation in the spatial pattern of regional displacement. We introduce Regional Displacement Interaction (RDI), a new covariate parameter set for second-level connectivity analysis and demonstrate its effectiveness in reducing motion related confounds in comparisons of groups with different voxel-vise displacement pattern and preprocessed using various nuisance regression methods. The effect of using RDI as second-level covariate is than demonstrated in autism-related group comparisons. The relationship between the proposed method and some of the prevailing subject-level nuisance regression techniques is evaluated. Our results show that, depending on experimental design, treating in-scanner head motion as a global confound may not be appropriate. The degree of displacement is highly variable among various brain regions, both within and between subjects. These regional differences bias correlation-based measures of brain connectivity. The inclusion of the proposed second-level covariate into the analysis successfully reduces artifactual motion-related group differences and preserves real neuronal differences, as demonstrated by the autism-related comparisons.
C1 [Spisak, Tamas; Kis, Sandor A.; Opposits, Gabor; Aranyi, Csaba; Emri, Miklos] Univ Debrecen, Med & Hlth Sci Ctr, Dept Nucl Med, Debrecen, Hungary.
[Jakab, Andras] Med Univ Vienna, Dept Radiol, Vienna, Austria.
[Berenyi, Ervin] Univ Debrecen, Med & Hlth Sci Ctr, Dept Biomed Lab & Imaging Sci, Debrecen, Hungary.
RP Spisak, T (reprint author), Univ Debrecen, Med & Hlth Sci Ctr, Dept Nucl Med, Debrecen, Hungary.
EM tspisak@pet.dote.hu
FU European Union; European Social Fund through project "Supercomputer, the
national virtual lab'' [TAMOP-4.2.2.C-11/1/KONV-2012-0010]; State of
Hungary - European Social Fund through project "Basic and applied
research to assist the development of speech for the deaf" [TAMOP
4.2.2.C-11/1/KONV]; State of Hungary through the National Brain Research
Program [KTIA_13_NAP-A-II/3]; European Commission, 7th European
Community Framework Programme, Marie Curie IEF Research grant FABRIC -
"exploring the Formation and Adaptation of the Brain Connectome''
[2012-PIEF-GA-33003]; State of Hungary - European Social Fund 'National
Excellence Program' [TAMOP-4.2.4.A/2-11/1-2012-0001]
FX The study was partially supported by the European Union and the European
Social Fund through project "Supercomputer, the national virtual lab''
(grant. no.: TAMOP-4.2.2.C-11/1/KONV-2012-0010). The work was supported
by the European Union and the State of Hungary, co-financed by the
European Social Fund through project "Basic and applied research to
assist the development of speech for the deaf'' (TAMOP
4.2.2.C-11/1/KONV). The project was supported by the State of Hungary
through the National Brain Research Program ("Charting the normal and
pathological macro-scale brain connectome by in vivo neuroimaging'',
KTIA_13_NAP-A-II/3). T. S. was supported by the European Union and the
State of Hungary, co-financed by the European Social Fund in the
framework of TAMOP-4.2.4.A/2-11/1-2012-0001 'National Excellence
Program'. A.J. was supported by the European Commission, 7th European
Community Framework Programme, Marie Curie IEF Research grant FABRIC -
"exploring the Formation and Adaptation of the Brain Connectome'',
2012-PIEF-GA-33003. The funders had no role in study design, data
collection and analysis, decision to publish, or preparation of the
manuscript.
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NR 49
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 4
PY 2014
VL 9
IS 9
AR e104947
DI 10.1371/journal.pone.0104947
PG 19
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO3XV
UT WOS:000341271500003
PM 25188284
ER
PT J
AU Baez, S
Ibanez, A
AF Baez, Sandra
Ibanez, Agustin
TI The effects of context processing on social cognition impairments in
adults with Asperger's syndrome
SO FRONTIERS IN NEUROSCIENCE
LA English
DT Review
DE autism spectrum disorders; Asperger's syndrome; social cognition; social
context processing; contextual cues
ID HIGH-FUNCTIONING AUTISM; MULTIPLE CASE SERIES; FRONTOTEMPORAL DEMENTIA;
BEHAVIORAL VARIANT; SPECTRUM DISORDERS; MORAL JUDGMENT; MIND; BRAIN;
SCHIZOPHRENIA; EMPATHY
AB Social cognition-the basis of all communicative and otherwise interpersonal relationships-is embedded in specific contextual circumstances which shape intrinsic meanings. This domain is compromised in the autism spectrum disorders (ASDs), including Asperger's syndrome (AS) (DSM-V). However, the few available reports of social cognition skills in adults with AS have largely neglected the effects of contextual factors. Moreover, previous studies on this population have also failed to simultaneously (a) assess multiple social cognition domains, (b) examine executive functions, (c) follow strict sample selection criteria, and (d) acknowledge the cognitive heterogeneity typical of the disorder. The study presently reviewed (Baez et al., 2012), addressed all these aspects in order to establish the basis of social cognition deficits in adult AS patients. Specifically, we assessed the performance of AS adults in multiple social cognition tasks with different context-processing requirements. The results suggest that social cognition deficits in AS imply a reduced ability to implicitly encode and integrate contextual cues needed to access social meaning. Nevertheless, the patients' performance was normal when explicit social information was presented or when the situation could be navigated with abstract rules. Here, we review the results of our study and other relevant data, and discuss their implications for the diagnosis and treatment of AS and other neuropsychiatric conditions (e.g., schizophrenia, bipolar disorder, frontotemporal dementia). Finally, we analyze previous results in the light of a current neurocognitive model of social-context processing.
C1 [Baez, Sandra; Ibanez, Agustin] Favaloro Univ, Inst Cognit Neurol INECO, Buenos Aires, DF, Argentina.
[Baez, Sandra; Ibanez, Agustin] Favaloro Univ, Inst Neurosci, Buenos Aires, DF, Argentina.
[Baez, Sandra; Ibanez, Agustin] Diego Port Univ, UIFCoN, Santiago, Chile.
[Baez, Sandra; Ibanez, Agustin] Consejo Nacl Invest Cient & Tecn, Natl Sci & Tech Res Council, RA-1033 Buenos Aires, DF, Argentina.
[Ibanez, Agustin] Univ Autonoma Caribe, Barranquilla, Colombia.
[Ibanez, Agustin] Australian Res Council, Ctr Excellence Cognit & its Disorders, Sydney, NSW, Australia.
RP Ibanez, A (reprint author), Inst Cognit Neuroloy INECO, Lab Expt Psychol & Neurosci, Buenos Aires, DF, Argentina.
EM aibanez@ineco.org.ar
FU CONICYT/FONDECYT Regular [1130920, 1140114]; PICT [2012-0412, 2012-1309]
FX Dr. Agustin Ibanez reports having received research funding from
CONICYT/FONDECYT Regular (1130920 and 1140114), PICT 2012-0412, and PICT
2012-1309. The author declares that the research was conducted in the
absence of any commercial or financial relationships that could be
construed as a potential conflict of interest.
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NR 90
TC 4
Z9 4
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-453X
J9 FRONT NEUROSCI-SWITZ
JI Front. Neurosci.
PD SEP 3
PY 2014
VL 8
AR 270
DI 10.3389/fnins.2014.00270
PG 9
WC Neurosciences
SC Neurosciences & Neurology
GA AW8LZ
UT WOS:000346515000001
PM 25232301
ER
PT J
AU Koh, JY
Lim, JS
Byun, HR
Yoo, MH
AF Koh, Jae-Young
Lim, Joon Seo
Byun, Hyae-Ran
Yoo, Min-Heui
TI Abnormalities in the zinc-metalloprotease-BDNF axis may contribute to
megalencephaly and cortical hyperconnectivity in young autism spectrum
disorder patients
SO MOLECULAR BRAIN
LA English
DT Review
DE Autism spectrum disorder (ASD); Zinc; Metalloprotease; Brain-derived
neurotrophic factor (BDNF)
ID FRAGILE-X-SYNDROME; NEUROTROPHIC FACTOR; MENTAL-RETARDATION;
SERUM-LEVELS; MUTANT MICE; MATRIX-METALLOPROTEINASE; FUNCTIONAL
CONNECTIVITY; ESSENTIAL MINERALS; SYNAPTIC VESICLES; DELETION SYNDROME
AB Whereas aberrant brain connectivity is likely the core pathology of autism-spectrum disorder (ASD), studies do not agree as to whether hypo-or hyper-connectivity is the main underlying problem. Recent functional imaging studies have shown that, in most young ASD patients, cerebral cortical regions appear hyperconnected, and cortical thickness/brain size is increased. Collectively, these findings indicate that developing ASD brains may exist in an altered neurotrophic milieu. Consistently, some ASD patients, as well as some animal models of ASD, show increased levels of brain-derived neurotrophic factor (BDNF). However, how BDNF is upregulated in ASD is unknown. To address this question, we propose the novel hypothesis that a putative zinc-metalloprotease-BDNF (ZMB) axis in the forebrain plays a pivotal role in the development of hyperconnectivity and megalencephaly in ASD.
We have previously demonstrated that extracellular zinc at micromolar concentrations can rapidly increase BDNF levels and phosphorylate the receptor tyrosine kinase TrkB via the activation of metalloproteases. The role of metalloproteases in ASD is still uncertain, but in fragile X syndrome, a monogenic disease with an autistic phenotype, the levels of MMP are increased. Early exposure to lipopolysaccharides (LPS) and other MMP activators such as organic mercurials also have been implicated in ASD pathogenesis. The resultant increases in BDNF levels at synapses, especially those involved in the zinc-containing, associative glutamatergic system may produce abnormal brain circuit development. Various genetic mutations that lead to ASD are also known to affect BDNF signaling: some down-regulate, and others up-regulate it. We hypothesize that, although both up-and down-regulation of BDNF may induce autism symptoms, only BDNF up-regulation is associated with the hyperconnectivity and large brain size observed in most young idiopathic ASD patients.
To test this hypothesis, we propose to examine the ZMB axis in animal models of ASD. Synaptic zinc can be examined by fluorescence zinc staining. MMP activation can be measured by in situ zymography and Western blot analysis. Finally, regional levels of BDNF can be measured. Validating this hypothesis may shed light on the central pathogenic mechanism of ASD and aid in the identification of useful biomarkers and the development of preventive/therapeutic strategies.
C1 [Koh, Jae-Young; Lim, Joon Seo; Byun, Hyae-Ran; Yoo, Min-Heui] Univ Ulsan, Coll Med, Asan Inst Life Sci, Neural Injury Res Lab, Seoul, South Korea.
[Koh, Jae-Young] Univ Ulsan, Coll Med, Dept Neurol, Seoul 138736, South Korea.
RP Koh, JY (reprint author), Univ Ulsan, Coll Med, Asan Inst Life Sci, Neural Injury Res Lab, Seoul, South Korea.
EM jkko@amc.seoul.kr
RI Koh, Jae-Young/C-9014-2011
OI Koh, Jae-Young/0000-0002-4318-495X
FU National Research Foundation of Korea [NRF: 2005-0093836]; Korean Health
Technology R&D Project, Ministry of Health Welfare [KHIDI: A0920420];
Asan Institute for Life Sciences [2014-193]
FX This work was supported by the following grants: the National Research
Foundation of Korea (NRF: 2005-0093836); the Korean Health Technology
R&D Project, Ministry of Health & Welfare (KHIDI: A0920420); the Asan
Institute for Life Sciences (2014-193). We thank Dr. Eunjoon Kim at
KAIST for kindly providing Shank2-knockout mice for our analyses.
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NR 115
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1756-6606
J9 MOL BRAIN
JI Mol. Brain
PD SEP 3
PY 2014
VL 7
AR 64
DI 10.1186/s13041-014-0064-z
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AQ3MR
UT WOS:000342698600001
PM 25182223
ER
PT J
AU Rideau Batista Novais, A
Crouzin, N
Cavalier, M
Boubal, M
Guiramand, J
Cohen-Solal, C
Ferreira, MCD
Cambonie, G
Vignes, M
Barbanel, G
AF Rideau Batista Novais, Aline
Crouzin, Nadine
Cavalier, Melanie
Boubal, Mathilde
Guiramand, Janique
Cohen-Solal, Catherine
Ferreira, Marie-Celeste de Jesus
Cambonie, Gilles
Vignes, Michel
Barbanel, Gerard
TI Tiagabine Improves Hippocampal Long-Term Depression in Rat Pups
Subjected to Prenatal Inflammation
SO PLOS ONE
LA English
DT Article
ID IMMUNE CHALLENGE; ANIMAL-MODELS; NEONATAL LIFE; AREA CA1; INFECTION;
BRAIN; ACTIVATION; MECHANISMS; INDUCTION; EXPOSURE
AB Maternal inflammation during pregnancy is associated with the later development of cognitive and behavioral impairment in the offspring, reminiscent of the traits of schizophrenia or autism spectrum disorders. Hippocampal long-term potentiation and long-term depression of glutamatergic synapses are respectively involved in memory formation and consolidation. In male rats, maternal inflammation with lipopolysaccharide (LPS) led to a premature loss of long-term depression, occurring between 12 and 25 postnatal days instead of after the first postnatal month, and aberrant occurrence of long-term potentiation. We hypothesized this would be related to GABAergic system impairment. Sprague Dawley rats received either LPS or isotonic saline ip on gestational day 19. Male offspring's hippocampus was studied between 12 and 25 postnatal days. Morphological and functional analyses demonstrated that prenatal LPS triggered a deficit of hippocampal GABAergic interneurons, associated with presynaptic GABAergic transmission deficiency in male offspring. Increasing ambient GABA by impairing GABA reuptake with tiagabine did not interact with the low frequency-induced long-term depression in control animals but fully prevented its impairment in male offspring of LPS-challenged dams. Tiagabine furthermore prevented the aberrant occurrence of paired-pulse triggered long-term potentiation in these rats. Deficiency in GABA seems to be central to the dysregulation of synaptic plasticity observed in juvenile in utero LPS-challenged rats. Modulating GABAergic tone may be a possible therapeutic strategy at this developmental stage.
C1 [Rideau Batista Novais, Aline; Cavalier, Melanie; Boubal, Mathilde; Guiramand, Janique; Cohen-Solal, Catherine; Ferreira, Marie-Celeste de Jesus; Cambonie, Gilles; Vignes, Michel; Barbanel, Gerard] Univ Montpellier 2, Univ Montpellier 1, CNRS, Lab IBMM UMR Inst Biomol Max Mousseron 5247, Montpellier, France.
[Rideau Batista Novais, Aline; Boubal, Mathilde; Cambonie, Gilles] Montpellier Univ Hosp, Neonatal Intens Care Unit, Montpellier, France.
[Crouzin, Nadine] Aix Marseille Univ, CNRS, Lab NICN Neurobiol Interact Cellulaires & Neuroph, Marseille, France.
RP Barbanel, G (reprint author), Univ Montpellier 2, Univ Montpellier 1, CNRS, Lab IBMM UMR Inst Biomol Max Mousseron 5247, Montpellier, France.
EM gerard.barbanel@univ-montp2.fr
FU Ministere de l'Enseignement Superieur et de la Recherche; Centre
National de la Recherche Scientifique; University of Montpellier 2;
Groupe d'Etudes de Neonatalogie-Languedoc Roussillon
FX ARBN was the recipient of a fellowship from the "Ministere de
l'Enseignement Superieur et de la Recherche". This work was supported in
part by the Centre National de la Recherche Scientifique and University
of Montpellier 2 and with the financial support of Groupe d'Etudes de
Neonatalogie-Languedoc Roussillon. The funders had no role in study
design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 39
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 3
PY 2014
VL 9
IS 9
AR e106302
DI 10.1371/journal.pone.0106302
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO3TB
UT WOS:000341257700053
PM 25184226
ER
PT J
AU de Diego-Otero, Y
Calvo-Medina, R
Quintero-Navarro, C
Sanchez-Salido, L
Garcia-Guirado, F
del Arco-Herrera, I
Fernandez-Carvajal, I
Ferrando-Lucas, T
Caballero-Andaluz, R
Perez-Costillas, L
AF de Diego-Otero, Yolanda
Calvo-Medina, Rocio
Quintero-Navarro, Carolina
Sanchez-Salido, Lourdes
Garcia-Guirado, Francisco
del Arco-Herrera, Ignacio
Fernandez-Carvajal, Isabel
Ferrando-Lucas, Teresa
Caballero-Andaluz, Rafaela
Perez-Costillas, Lucia
TI A combination of ascorbic acid and alpha-tocopherol to test the
effectiveness and safety in the fragile X syndrome: study protocol for a
phase II, randomized, placebo-controlled trial
SO TRIALS
LA English
DT Article
DE Antioxidants; Experimental treatment; Fragile X syndrome; Oxidative
stress; Trial
ID VITAMIN-E TREATMENT; LINKED MENTAL-RETARDATION; DOUBLE-BLIND;
CYSTIC-FIBROSIS; OXIDATIVE STRESS; OPEN-LABEL; ALZHEIMERS-DISEASE;
INSULIN-RESISTANCE; L-ACETYLCARNITINE; NEWBORN MALES
AB Background: Fragile X syndrome (FXS) is an inherited neurodevelopmental condition characterised by behavioural, learning disabilities, phisical and neurological symptoms. In addition, an important degree of comorbidity with autism is also present. Considered a rare disorder affecting both genders, it first becomes apparent during childhood with displays of language delay and behavioural symptoms.
Main aim: To show whether the combination of 10 mg/kg/day of ascorbic acid (vitamin C) and 10 mg/kg/day of a-tocopherol (vitamin E) reduces FXS symptoms among male patients ages 6 to 18 years compared to placebo treatment, as measured on the standardized rating scales at baseline, and after 12 and 24 weeks of treatment. Secondary aims: To assess the safety of the treatment. To describe behavioural and cognitive changes revealed by the Developmental Behaviour Checklist Short Form (DBC-P24) and the Wechsler Intelligence Scale for Children-Revised. To describe metabolic changes revealed by blood analysis. To measure treatment impact at home and in an academic environment.
Methods/Design: A phase II randomized, double-blind pilot clinical trial. Scope: male children and adolescents diagnosed with FXS, in accordance with a standardized molecular biology test, who met all the inclusion criteria and none of the exclusion criteria. Instrumentation: clinical data, blood analysis, Wechsler Intelligence Scale for Children-Revised, Conners parent and teacher rating scale scores and the DBC-P24 results will be obtained at the baseline (t0). Follow up examinations will take place at 12 weeks (t1) and 24 weeks (t2) of treatment.
Discussion: A limited number of clinical trials have been carried out on children with FXS, but more are necessary as current treatment possibilities are insufficient and often provoke side effects. In the present study, we sought to overcome possible methodological problems by conducting a phase II pilot study in order to calculate the relevant statistical parameters and determine the safety of the proposed treatment. The results will provide evidence to improve hyperactivity control and reduce behavioural and learning problems using ascorbic acid (vitamin C) and a-tocopherol (vitamin E). The study protocol was approved by the Regional Government Committee for Clinical Trials in Andalusia and the Spanish agency for drugs and health products.
C1 [de Diego-Otero, Yolanda; Quintero-Navarro, Carolina; Sanchez-Salido, Lourdes; Garcia-Guirado, Francisco; Perez-Costillas, Lucia] Hosp Reg Univ Malaga, Hosp Civil, Inst Invest Biomed Malaga IBIMA, Unidad Gest Clin Salud Mental, Malaga 29009, Spain.
[Calvo-Medina, Rocio] Hosp Reg Univ Malaga, Unidad Gest Clin Pediat, Malaga 29009, Spain.
[del Arco-Herrera, Ignacio] Infobiotic, Malaga 29018, Spain.
[Fernandez-Carvajal, Isabel] Univ Valladolid, CSIC, IBGM, Unidad Genet Mol Enfermedad, Valladolid 47003, Spain.
[Ferrando-Lucas, Teresa] Hosp Quiron, Serv Neuropediat, Madrid 28223, Spain.
[Caballero-Andaluz, Rafaela] Univ Seville, Fac Med, Dept Psiquiat, E-41009 Seville, Spain.
[Perez-Costillas, Lucia] Univ Malaga, Fac Med, Dept Psiquiat, Malaga 29010, Spain.
[de Diego-Otero, Yolanda] Hosp Reg Univ Malaga, Hosp Civil, Lab Invest, Unidad Gest Clin Salud Mental, Malaga 29009, Spain.
RP de Diego-Otero, Y (reprint author), Hosp Reg Univ Malaga, Hosp Civil, Inst Invest Biomed Malaga IBIMA, Unidad Gest Clin Salud Mental, Pabellon 2 Bajo,Plaza Hosp Civil S-N, Malaga 29009, Spain.
EM yolanda.diego.exts@juntadeandalucia.es
FU Spanish Ministry of Health, Research Funds from FEDER-EU [TRA152,
EC10-191, EC11-434]; Health Department of the Andalusian Regional
Government [PI09-0507]; Economic Innovation and Science Regional
Government [CTS546, P10-CTS-05704]; Jerome Lejeune Foundation (Paris,
France); Servicio Andaluz de Salud. Consejeria de Salud. Junta de
Andalucia; Fragile X Syndrome Association in Andalucia; Fragile X
Syndrome Association in Madrid; Fragile X Syndrome Association in
Extremadura; Spanish Federation of Fragile X Syndrome; Spanish
Federation for Rare Diseases (FEDER); University Regional Hospital in
Malaga
FX The trial protocol is approved and funded by the Spanish Ministry of
Health, Research Funds from FEDER-EU (TRA152, EC10-191 and EC11-434),
the Health Department of the Andalusian Regional Government (PI09-0507),
the Economic Innovation and Science Regional Government (CTS546 and
P10-CTS-05704) and the Jerome Lejeune Foundation (Paris, France). YDDO
is the recipient of a Nicolas Monarde contract from the Servicio Andaluz
de Salud. Consejeria de Salud. Junta de Andalucia. We deeply thank the
all the patients and their families for their participation. The authors
wish to thank the following for their support: the Fragile X Syndrome
Association in Andalucia, the Fragile X Syndrome Association in Madrid,
the Fragile X Syndrome Association in Extremadura, the Spanish
Federation of Fragile X Syndrome, the Spanish Federation for Rare
Diseases (FEDER) and the University Regional Hospital in Malaga for
their support. We thank DWE Ramsden for revising the manuscript.
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NR 91
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1745-6215
J9 TRIALS
JI Trials
PD SEP 3
PY 2014
VL 15
AR 345
DI 10.1186/1745-6215-15-345
PG 15
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AO9EX
UT WOS:000341659800001
PM 25187257
ER
PT J
AU Bowling, H
Klann, E
AF Bowling, Heather
Klann, Eric
TI Shaping Dendritic Spines in Autism Spectrum Disorder: mTORC1-Dependent
Macroautophagy
SO NEURON
LA English
DT Editorial Material
ID SIGNALING PATHWAYS; MICE; TRANSLATION; MODEL; MTOR
AB In this issue of Neuron, Tang et al. (2014) explore the relationship between developmental dendritic pruning, elevated mTORC1 signaling, macroautophagy, and autism spectrum disorder. The study provides valuable new insight into mTORC1-dependent cellular dysfunction and neurodevelopmental disorders.
C1 [Bowling, Heather; Klann, Eric] NYU, Ctr Neural Sci, New York, NY 10003 USA.
RP Klann, E (reprint author), NYU, Ctr Neural Sci, New York, NY 10003 USA.
EM ek65@nyu.edu
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NR 14
TC 0
Z9 0
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0896-6273
EI 1097-4199
J9 NEURON
JI Neuron
PD SEP 3
PY 2014
VL 83
IS 5
BP 994
EP 996
DI 10.1016/j.neuron.2014.08.021
PG 3
WC Neurosciences
SC Neurosciences & Neurology
GA AO5XB
UT WOS:000341419000002
PM 25189205
ER
PT J
AU Tang, GM
Gudsnuk, K
Kuo, SH
Cotrina, ML
Rosoklija, G
Sosunov, A
Sonders, MS
Kanter, E
Castagna, C
Yamamoto, A
Yue, ZY
Arancio, O
Peterson, BS
Champagne, F
Dwork, AJ
Goldman, J
Sulzer, D
AF Tang, Guomei
Gudsnuk, Kathryn
Kuo, Sheng-Han
Cotrina, Marisa L.
Rosoklija, Gorazd
Sosunov, Alexander
Sonders, Mark S.
Kanter, Ellen
Castagna, Candace
Yamamoto, Ai
Yue, Zhenyu
Arancio, Ottavio
Peterson, Bradley S.
Champagne, Frances
Dwork, Andrew J.
Goldman, James
Sulzer, David
TI Loss of mTOR-Dependent Macroautophagy Causes Autistic-like Synaptic
Pruning Deficits
SO NEURON
LA English
DT Article
ID TUBEROUS SCLEROSIS COMPLEX; SUPERIOR TEMPORAL SULCUS; NEUROPSYCHIATRIC
DISORDERS; FUNCTIONAL CONNECTIVITY; HIPPOCAMPAL-NEURONS; DENDRITIC
SPINES; MOUSE MODELS; AUTOPHAGY; BRAIN; MICE
AB Developmental alterations of excitatory synapses are implicated in autism spectrum disorders (ASDs). Here, we report increased dendritic spine density with reduced developmental spine pruning in layer V pyramidal neurons in postmortem ASD temporal lobe. These spine deficits correlate with hyperactivated mTOR and impaired autophagy. In Tsc2+/- ASD mice where mTOR is constitutively overactive, we observed postnatal spine pruning defects, blockade of autophagy, and ASD-like social behaviors. The mTOR inhibitor rapamycin corrected ASDlike behaviors and spine pruning defects in Tsc2+/ mice, but not in Atg7(CKO) neuronal autophagy-deficient mice or Tsc2+/- : Atg7(CKO) double mutants. Neuronal autophagy furthermore enabled spine elimination with no effects on spine formation. Our findings suggest that mTOR-regulated autophagy is required for developmental spine pruning, and activation of neuronal autophagy corrects synaptic pathology and social behavior deficits in ASD models with hyperactivated mTOR.
C1 [Tang, Guomei; Kuo, Sheng-Han; Sonders, Mark S.; Kanter, Ellen; Castagna, Candace; Yamamoto, Ai; Sulzer, David] Columbia Univ, Med Ctr, Dept Neurol, New York, NY 10032 USA.
[Gudsnuk, Kathryn; Champagne, Frances] Columbia Univ, Med Ctr, Dept Psychol, New York, NY 10032 USA.
[Cotrina, Marisa L.; Sosunov, Alexander; Arancio, Ottavio; Dwork, Andrew J.; Goldman, James] Columbia Univ, Med Ctr, Dept Pathol & Cell Biol, New York, NY 10032 USA.
[Rosoklija, Gorazd; Peterson, Bradley S.; Dwork, Andrew J.; Sulzer, David] Columbia Univ, Med Ctr, Dept Psychiat, New York, NY 10032 USA.
[Sulzer, David] Columbia Univ, Med Ctr, Dept Pharmacol, New York, NY 10032 USA.
[Yue, Zhenyu] Icahn Sch Med Mt Sinai, Friedman Brain Inst, Dept Neurol, New York, NY 10029 USA.
[Yue, Zhenyu] Icahn Sch Med Mt Sinai, Friedman Brain Inst, Dept Neurosci, New York, NY 10029 USA.
[Cotrina, Marisa L.] Univ Rochester, Ctr Translat Neuromed, Rochester, NY 14642 USA.
[Rosoklija, Gorazd; Peterson, Bradley S.; Dwork, Andrew J.; Sulzer, David] New York State Psychiat Inst & Hosp, New York, NY 10032 USA.
RP Sulzer, D (reprint author), Columbia Univ, Med Ctr, Dept Neurol, New York, NY 10032 USA.
EM ds43@columbia.edu
FU Simons Foundation; DOD TSCRP [TS110056]; Parkinson's Disease Foundation
from NIMH [K01MH096956]; JPB Foundation from NIMH [K01MH096956]; AHA;
NIMH [MH64168]; NIH [DP2OD001674-01, NS049442]
FX This study was supported by the Simons Foundation. Additional support
for D.S. is from DOD TSCRP (TS110056) and the Parkinson's Disease and
JPB Foundations, for G.T. from NIMH (K01MH096956), for M.L.C. from AHA,
for A.J.D. from NIMH (MH64168), for F.C. from NIH (DP2OD001674-01), for
O.A. from NIH (NS049442). We thank the Autism Tissue Portal, Harvard
Brain Bank, and Maryland NICHD Brain & Tissue Bank for kindly providing
us brain tissues for the present study. We thank Ana Maria Cuervo for
reagents and valuable advice.
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NR 61
TC 9
Z9 12
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0896-6273
EI 1097-4199
J9 NEURON
JI Neuron
PD SEP 3
PY 2014
VL 83
IS 5
BP 1131
EP 1143
DI 10.1016/j.neuron.2014.07.040
PG 13
WC Neurosciences
SC Neurosciences & Neurology
GA AO5XB
UT WOS:000341419000015
PM 25155956
ER
PT J
AU Stavropoulos, KKM
Carver, LJ
AF Stavropoulos, Katherine K. M.
Carver, Leslie J.
TI Effect of Familiarity on Reward Anticipation in Children with and
without Autism Spectrum Disorders
SO PLOS ONE
LA English
DT Article
ID EVENT-RELATED POTENTIALS; STIMULUS-PRECEDING NEGATIVITY; FUSIFORM FACE
AREA; TYPICAL DEVELOPMENT; FACIAL EXPRESSIONS; YOUNG-CHILDREN;
RECOGNITION; PERCEPTION; ATTACHMENT; PUNISHMENT
AB Background: Previous research on the reward system in autism spectrum disorders (ASD) suggests that children with ASD anticipate and process social rewards differently than typically developing (TD) children-but has focused on the reward value of unfamiliar face stimuli. Children with ASD process faces differently than their TD peers. Previous research has focused on face processing of unfamiliar faces, but less is known about how children with ASD process familiar faces. The current study investigated how children with ASD anticipate rewards accompanied by familiar versus unfamiliar faces.
Methods: The stimulus preceding negativity (SPN) of the event-related potential (ERP) was utilized to measure reward anticipation. Participants were 6- to 10-year-olds with (N = 14) and without (N = 14) ASD. Children were presented with rewards accompanied by incidental face or non-face stimuli that were either familiar (caregivers) or unfamiliar. All non-face stimuli were composed of scrambled face elements in the shape of arrows, controlling for visual properties.
Results: No significant differences between familiar versus unfamiliar faces were found for either group. When collapsing across familiarity, TD children showed larger reward anticipation to face versus non-face stimuli, whereas children with ASD did not show differential responses to these stimulus types. Magnitude of reward anticipation to faces was significantly correlated with behavioral measures of social impairment in the ASD group.
Conclusions: The findings do not provide evidence for differential reward anticipation for familiar versus unfamiliar face stimuli in children with or without ASD. These findings replicate previous work suggesting that TD children anticipate rewards accompanied by social stimuli more than rewards accompanied by non-social stimuli. The results do not support the idea that familiarity normalizes reward anticipation in children with ASD. Our findings also suggest that magnitude of reward anticipation to faces is correlated with levels of social impairment for children with ASD.
C1 [Stavropoulos, Katherine K. M.; Carver, Leslie J.] Univ Calif San Diego, Dept Psychol, La Jolla, CA 92093 USA.
RP Stavropoulos, KKM (reprint author), Univ Calif San Diego, Dept Psychol, La Jolla, CA 92093 USA.
EM kmeltzoff@gmail.com
FU Autism Speaks Dennis Weatherstone Predoctoral Fellowship [7844]
FX This work was supported by an Autism Speaks Dennis Weatherstone
Predoctoral Fellowship awarded to KKMS (grant 7844). The funders had no
rule in study design, data collection and analysis, decision to publish,
or preparation of the manuscript.
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NR 46
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 3
PY 2014
VL 9
IS 9
AR e106667
DI 10.1371/journal.pone.0106667
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO3TB
UT WOS:000341257700099
PM 25184524
ER
PT J
AU Margari, L
Colonna, A
Craig, F
Gentile, M
Giannella, G
Lamanna, AL
Legrottaglie, AR
AF Margari, Lucia
Colonna, Annalisa
Craig, Francesco
Gentile, Mattia
Giannella, Giustina
Lamanna, Anna Linda
Legrottaglie, Anna Rosi
TI Microphthalmia with Linear Skin Defects (MLS) associated with Autism
Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp
deletion
SO BMC PEDIATRICS
LA English
DT Article
DE MLS syndrome; Autism spectrum disorder; Xp deletion; X-inactivation;
Phenotypic variability
ID DISTAL SHORT ARM; CHROMOSOME; GENE; INACTIVATION; PHENOTYPE;
SCLEROCORNEA; VARIABILITY; FEMALE; GIRL
AB Background: Microphthalmia with linear skin defects (MLS) syndrome is a rare X-linked dominant male-lethal developmental disorder characterized by unilateral or bilateral microphthalmia and linear skin defects of the face and neck. Additional features affecting the eyes, heart, brain or genitourinary system can occur, corroborating the intra-and interfamilial phenotypic variability. The majority of patients display monosomy of the Xp22.2 region, where the holocytochrome c-type synthase (HCCS) gene is located.
Case presentation: We describe a 15-year-old-female affected by MLS syndrome and autism spectrum disorder (ASD). ASD has not previously been reported as a component of MLS. Our patient shows a large deletion of 12.9 Mb, involving Xp22.32-p22.2, which encompasses both the HCCS gene and autism X-linked genes.
Conclusion: Thus, patients with a large deletion at Xp22 might display MLS with ASD, due to the deletion of contiguous genes, although the highly variable phenotype of these patients could be influenced by several genetic mechanisms, including different tissue-specific X-inactivation and somatic mosaicism.
C1 [Margari, Lucia; Colonna, Annalisa; Craig, Francesco; Giannella, Giustina; Lamanna, Anna Linda; Legrottaglie, Anna Rosi] Neurosci & Sensory Organs Aldo Moro Univ Bari, Dept Gen Med, Child Neuropsychiat Unit, Bari, Italy.
[Gentile, Mattia] ASL BARI, Hosp Di Venere, Dept Med Genet, Bari, Italy.
RP Margari, L (reprint author), Neurosci & Sensory Organs Aldo Moro Univ Bari, Dept Gen Med, Child Neuropsychiat Unit, Bari, Italy.
EM lucia.margari@uniba.it
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NR 21
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-2431
J9 BMC PEDIATR
JI BMC Pediatr.
PD SEP 2
PY 2014
VL 14
AR 220
DI 10.1186/1471-2431-14-220
PG 5
WC Pediatrics
SC Pediatrics
GA AP2IB
UT WOS:000341894800001
PM 25182979
ER
PT J
AU Fan, J
AF Fan, Jin
TI An information theory account of cognitive control
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE cognitive control; information theory; uncertainty; entropy;
frontoparietal network
ID ANTERIOR CINGULATE CORTEX; EVENT-RELATED FMRI; MEDIAL FRONTAL-CORTEX;
DEFICIT HYPERACTIVITY DISORDER; OBSESSIVE-COMPULSIVE DISORDER;
POSITRON-EMISSION-TOMOGRAPHY; HUMAN ATTENTIONAL NETWORKS; AUTISM
SPECTRUM DISORDERS; HUMAN PREFRONTAL CORTEX; HIGH-FUNCTIONING AUTISM
AB Our ability to efficiently process information and generate appropriate responses depends on the processes collectively called cognitive control. Despite a considerable focus in the literature on the cognitive control of information processing, neural mechanisms underlying control are still unclear, and have not been characterized by considering the quantity of information to be processed. A novel and comprehensive account of cognitive control is proposed using concepts from information theory, which is concerned with communication system analysis and the quantification of information. This account treats the brain as an information-processing entity where cognitive control and its underlying brain networks play a pivotal role in dealing with conditions of uncertainty. This hypothesis and theory article justifies the validity and properties of such an account and relates experimental findings to the frontoparietal network under the framework of information theory.
C1 [Fan, Jin] CUNY Queens Coll, Dept Psychol, Flushing, NY 11367 USA.
[Fan, Jin] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY USA.
[Fan, Jin] Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY USA.
RP Fan, J (reprint author), CUNY Queens Coll, Dept Psychol, 65-30 Kissena Blvd, Flushing, NY 11367 USA.
EM jin.fan@qc.cuny.edu
FU National Institute of Mental Health of the National Institutes of Health
[R01 MH094305]
FX Research reported in this publication was supported by the National
Institute of Mental Health of the National Institutes of Health under
Award Number R01 MH094305 to Jin Fan. The content is solely the
responsibility of the author and does not necessarily represent the
official views of the National Institutes of Health. I would like to
thank Drs. Michael I. Posner, Raja Parasuraman, Robert Knight, Patrick
Hof, Hongbin Wang, Xun Liu, Nicholas Van Dam, Tingting Wu, Thomas Y.
Lee, Melissa-Ann Mackie, M.S., and especially the reviewers for making
insightful comments and corrections.
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NR 199
TC 3
Z9 3
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD SEP 2
PY 2014
VL 8
AR 680
DI 10.3389/fnhum.2014.00680
PG 16
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AO4FL
UT WOS:000341291500003
PM 25228875
ER
PT J
AU Mulder, AM
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AF Mulder, Ann M.
Cashin, Andrew
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SO Issues in Mental Health Nursing
LA English
DT Article
ID SPECTRUM DISORDERS; POSTSECONDARY EDUCATION; ASPERGER-SYNDROME;
HIGH-SCHOOL; POPULATION; PREVALENCE; DISABILITIES; TRANSITION
AB Publicity surrounds the increased prevalence of autism. However, in contrast to support in primary and secondary schools, there exists little focus on supporting students with autism at university. Mental health nurses are well placed to facilitate support programmes for students with autism who have the capacity for higher education. This article examines the international literature around the support needs for these students and discusses opportunities that exist to support these students, their families, and higher education staff. Research is urgently needed to evaluate the success of such interventions, particularly in light of the low participation rates in study and work for people with autism.
C1 [Mulder, Ann M.; Cashin, Andrew] So Cross Univ, Sch Hlth & Human Sci, Lismore, NSW 2480, Australia.
RP Mulder, AM (reprint author), So Cross Univ, Sch Hlth & Human Sci, Lismore, NSW 2480, Australia.
EM ann.mulder@scu.edu.au
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NR 50
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 0161-2840
EI 1096-4673
J9 ISSUES MENT HEALTH N
JI Issues Ment. Health Nurs.
PD SEP
PY 2014
VL 35
IS 9
BP 664
EP 671
DI 10.3109/01612840.2014.894158
PG 8
WC Nursing; Psychiatry
SC Nursing; Psychiatry
GA CG4HJ
UT WOS:000353245900004
PM 25162188
ER
PT J
AU Tessier, S
Lambert, A
Chevrier, E
Scherzer, PB
Jemel, B
Godbout, R
AF Tessier, S.
Lambert, A.
Chevrier, E.
Scherzer, P. B.
Jemel, B.
Godbout, R.
TI REM sleep and emotional face memory in typically developing children and
children with autism
SO JOURNAL OF SLEEP RESEARCH
LA English
DT Meeting Abstract
CT 22nd Congress of the European-Sleep-Research-Society
CY SEP 16-20, 2014
CL Tallinn, ESTONIA
SP European Sleep Res Soc
C1 [Tessier, S.; Lambert, A.; Chevrier, E.] Hop Riviere des Prairies, Res Ctr, Sleep Lab & Clin, Montreal, PQ, Canada.
[Tessier, S.; Lambert, A.; Jemel, B.; Godbout, R.] Inst Univ Sante Mentale Montreal, Res Ctr, Montreal, PQ, Canada.
[Scherzer, P. B.] Univ Quebec, Dept Psychol, Montreal, PQ H3C 3P8, Canada.
[Jemel, B.] Hop Riviere des Prairies, Res Ctr, Cognit Neurosci & Electrophysiol Lab, Montreal, PQ, Canada.
[Jemel, B.] Univ Montreal, Sch Orthophony & Audiol, Montreal, PQ, Canada.
[Godbout, R.] Univ Montreal, Dept Psychiat, Montreal, PQ H3C 3J7, Canada.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0962-1105
EI 1365-2869
J9 J SLEEP RES
JI J. Sleep Res.
PD SEP
PY 2014
VL 23
SU 1
SI SI
MA 211
BP 52
EP 52
PG 1
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA CB9OG
UT WOS:000349960600122
ER
PT J
AU Baker, E
Richdale, A
AF Baker, E.
Richdale, A.
TI Sleep patterns in adults with a diagnosis of high-functioning autism
spectrum disorder: a preliminary analysis
SO JOURNAL OF SLEEP RESEARCH
LA English
DT Meeting Abstract
CT 22nd Congress of the European-Sleep-Research-Society
CY SEP 16-20, 2014
CL Tallinn, ESTONIA
SP European Sleep Res Soc
C1 [Baker, E.; Richdale, A.] La Trobe Univ, Olga Tennison Autism Res Ctr, Bundoora, Vic, Australia.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0962-1105
EI 1365-2869
J9 J SLEEP RES
JI J. Sleep Res.
PD SEP
PY 2014
VL 23
SU 1
SI SI
MA P737
BP 230
EP 230
PG 1
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA CB9OG
UT WOS:000349960600624
ER
PT J
AU Baker, E
Richdale, A
AF Baker, E.
Richdale, A.
TI Chronic sleep reduction and psychopathology symptoms in adults with
high-functioning autism spectrum disorder
SO JOURNAL OF SLEEP RESEARCH
LA English
DT Meeting Abstract
CT 22nd Congress of the European-Sleep-Research-Society
CY SEP 16-20, 2014
CL Tallinn, ESTONIA
SP European Sleep Res Soc
C1 [Baker, E.; Richdale, A.] La Trobe Univ, Olga Tennison Autism Res Ctr, Melbourne, Vic, Australia.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0962-1105
EI 1365-2869
J9 J SLEEP RES
JI J. Sleep Res.
PD SEP
PY 2014
VL 23
SU 1
SI SI
MA P745
BP 232
EP 232
PG 1
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA CB9OG
UT WOS:000349960600632
ER
PT J
AU Andujar, MA
Sanchez, MDG
De Leon, CM
Ramos, I
Marquez, A
AF Aguilar Andujar, M.
Guerrero Sanchez, M. D.
Menendez De Leon, C.
Ramos, I.
Marquez, A.
TI Sleep characteristics in children with autism spectrum disorder
SO JOURNAL OF SLEEP RESEARCH
LA English
DT Meeting Abstract
CT 22nd Congress of the European-Sleep-Research-Society
CY SEP 16-20, 2014
CL Tallinn, ESTONIA
SP European Sleep Res Soc
C1 [Guerrero Sanchez, M. D.; Menendez De Leon, C.; Ramos, I.; Marquez, A.] HUVM, Seville, Spain.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0962-1105
EI 1365-2869
J9 J SLEEP RES
JI J. Sleep Res.
PD SEP
PY 2014
VL 23
SU 1
SI SI
MA P1029
BP 326
EP 326
PG 1
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA CB9OG
UT WOS:000349960600911
ER
PT J
AU Agran, M
AF Agran, Martin
TI Facilitated Communication: A House Divided
SO RESEARCH AND PRACTICE FOR PERSONS WITH SEVERE DISABILITIES
LA English
DT Editorial Material
ID AUTISM
C1 [Agran, Martin] Univ Wyoming, Laramie, WY 82071 USA.
RP Agran, M (reprint author), Univ Wyoming, Dept 3374, 1000 E Univ Ave, Laramie, WY 82071 USA.
EM magran@uwyo.edu
CR Broderick AA, 2001, J ASSOC PERS SEVERE, V26, P13, DOI 10.2511/rpsd.26.1.13
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NR 11
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1540-7969
EI 2169-2408
J9 RES PRACT PERS SEV D
JI Res. Pract. Pers. Sev. Disabil.
PD SEP
PY 2014
VL 39
IS 3
SI SI
BP 175
EP 177
DI 10.1177/1540796914558830
PG 3
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA CB7HK
UT WOS:000349797300001
ER
PT J
AU Singer, GHS
Horner, RH
Dunlap, G
Wang, MA
AF Singer, George H. S.
Horner, Robert H.
Dunlap, Glen
Wang, Mian
TI Standards of Proof: TASH, Facilitated Communication, and the
Science-Based Practices Movement
SO RESEARCH AND PRACTICE FOR PERSONS WITH SEVERE DISABILITIES
LA English
DT Article
DE science based practices; research methods; values; facilitated
communication
ID SPECIAL-EDUCATION; SUPPORT; AUTISM; PERSPECTIVES; PARENTS; COMPETENCE;
AUTHORSHIP; CHILDREN; IMPACT
AB TASH's historic commitment to advocacy and science has enabled it to be a trusted voice for people with severe disabilities and their families. We review recent developments in the controversy over facilitated communication (FC) in light of major contextual continuities and changes in the past two decades. A series of scholarly reviews of the literature on controlled experiments have established a preponderance of evidence that FC is not reliably an expression from the individual who receives facilitation. Evidence indicates that the facilitator is the usual source of the text. We discuss the standards of proof of efficacy that must apply before an intervention should be endorsed by a national organization that aims to have a major impact on policy and practices. The need for controlled experiments in evaluation interventions is discussed. The central concern in establishing efficacy of a practice is to rule out other plausible explanations for an outcome. The main concern in establishing effectiveness is replication under real-world conditions. The science-based practices movement has been taken up by most of the helping professions contributing to the education and support of people with severe disabilities. The movement aims to identify practices and catalog them in terms of the trustworthiness of the evidence supporting them. The movement has led to establishing standards for determining when an intervention can be said to be efficacious. We urge TASH to join this movement and, in light of a commitment to science-based practices, argue that it should withdraw its stated endorsement of FC, which is not supported by science-based research.
C1 [Singer, George H. S.; Wang, Mian] Univ Calif Santa Barbara, Santa Barbara, CA 93106 USA.
[Horner, Robert H.] Univ Oregon, Eugene, OR 97403 USA.
[Dunlap, Glen] Univ Nevada, Reno, NV 89557 USA.
[Dunlap, Glen] Univ S Florida, Tampa Bay, FL USA.
RP Singer, GHS (reprint author), Univ Calif Santa Barbara, Gevertz Grad Sch Educ, Santa Barbara, CA 93106 USA.
EM singer@education.ucsb.edu
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Biklen D., 1997, CONTESTED WORDS CONT
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What Works Clearinghouse, 2014, WWC PROC STAND HDB
NR 51
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1540-7969
EI 2169-2408
J9 RES PRACT PERS SEV D
JI Res. Pract. Pers. Sev. Disabil.
PD SEP
PY 2014
VL 39
IS 3
SI SI
BP 178
EP 188
DI 10.1177/1540796914558831
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA CB7HK
UT WOS:000349797300002
ER
PT J
AU Cardinal, DN
Falvey, MA
AF Cardinal, Donald N.
Falvey, Mary A.
TI The Maturing of Facilitated Communication: A Means Toward Independent
Communication
SO RESEARCH AND PRACTICE FOR PERSONS WITH SEVERE DISABILITIES
LA English
DT Article
DE facilitated communication; multivariate analysis; severe disabilities;
facilitated communication
ID AUTHORSHIP; AUTISM; INDIVIDUALS; PERSPECTIVE; GRAMMAR; LEXICON
AB Facilitated communication (FC) can be a successful means for people to learn to communicate effectively and independently. The preponderance of peer-reviewed articles supports FC as a useful tool for developing communication skills. While there has been a chasm of difference in qualitative versus quantitative studies on FC, researchers have produced a body of current literature confirming the method. Many people with significant intellectual disabilities, through the use of FC, have been able to demonstrate their ability to successfully communicate. We, as a profession, now need to respond with collaborative scholarship. In addition, revised position statements must be developed reflecting the past research findings and encouraging future research.
C1 [Cardinal, Donald N.] Chapman Univ, Coll Educ Studies, Orange, CA 92866 USA.
[Falvey, Mary A.] Calif State Univ Los Angeles, Los Angeles, CA 90032 USA.
RP Cardinal, DN (reprint author), Chapman Univ, Coll Educ Studies, One Univ Dr, Orange, CA 92866 USA.
EM cardinal@chapman.edu
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Biklen D., 1994, J ASSOC PERS SEVERE, V19, P172
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Biklen D., 1997, CONTESTED WORDS CONT
Broderick AA, 2001, J ASSOC PERS SEVERE, V26, P13, DOI 10.2511/rpsd.26.1.13
Cardinal D., 2012, AUTISM SENSORY MOVEM, P135
Cardinal DN, 1996, MENT RETARD, V34, P231
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Crossley R., 1997, SPEECHLESS FACILITAT
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NR 27
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1540-7969
EI 2169-2408
J9 RES PRACT PERS SEV D
JI Res. Pract. Pers. Sev. Disabil.
PD SEP
PY 2014
VL 39
IS 3
SI SI
BP 189
EP 194
DI 10.1177/1540796914555581
PG 6
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA CB7HK
UT WOS:000349797300003
ER
PT J
AU Travers, JC
Tincani, MJ
Lang, R
AF Travers, Jason C.
Tincani, Matt J.
Lang, Russell
TI Facilitated Communication Denies People With Disabilities Their Voice
SO RESEARCH AND PRACTICE FOR PERSONS WITH SEVERE DISABILITIES
LA English
DT Article
DE Facilitated Communication; pseudoscience; autism; developmental
disabilities; augmentative and alternative communication
ID AUTISM; SYSTEM; SAY
AB Facilitated Communication (FC) has been rebranded as "supported typing" and repackaged as rapid prompting method, but remains a disproven intervention for people with disabilities. Despite the absence of supportive evidence and abundant evidence that facilitators always author the messages, FC has experienced resurgence in popularity among families, professionals, and advocacy groups. Strategic marketing, confirmation bias, pseudoscience, anti-science, and fallacy explain this troubling renewal. We briefly discuss each of these and contrast the method with authentic augmentative and alternative communication to illustrate differences in values and practices. Our intention is to persuade readers to resist or abandon FC in favor of validated methods and to encourage advocacy organizations to advance agendas that emphasize genuine self-expression by people with disabilities.
C1 [Travers, Jason C.] Univ Kansas, Lawrence, KS 66045 USA.
[Tincani, Matt J.] Temple Univ, Philadelphia, PA 19122 USA.
[Lang, Russell] Texas State Univ, San Marcos, TX USA.
RP Travers, JC (reprint author), Univ Kansas, Joseph R Pearson Hall,Rm 521,1122 West Campus Rd, Lawrence, KS 66045 USA.
EM jasontravers@me.com
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TASH, 2014, FAC COMM
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University of New Hampshire Institute on Disability/University Center for Excellence in Disability, FAC COMM SKILL BUILD
University of Northern Iowa College of Education, 2014 MIDW SUMM I COM
Wallis C., 2006, TIME MAGAZINE
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Wurzburg G., 2011, WRETCHES JABBERERS S
Yabroff J., 2011, NEWSWEEK
NR 62
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1540-7969
EI 2169-2408
J9 RES PRACT PERS SEV D
JI Res. Pract. Pers. Sev. Disabil.
PD SEP
PY 2014
VL 39
IS 3
SI SI
BP 195
EP 202
DI 10.1177/1540796914556778
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA CB7HK
UT WOS:000349797300004
ER
PT J
AU Mostert, MP
AF Mostert, Mark P.
TI An Activist Approach to Debunking FC
SO RESEARCH AND PRACTICE FOR PERSONS WITH SEVERE DISABILITIES
LA English
DT Article
DE facilitated communication; autism; special education
ID FACILITATED COMMUNICATION; META-ANALYSIS; AUTISM; CHILDREN; SCIENCE
AB Facilitated Communication (FC), a controversial educational intervention touted for persons with autism and other non-communicative conditions, has reemerged as a viable educational option despite a number of earlier empirical studies that unequivocally identified the facilitator as the author of any communication and not the client. Several intersecting vectors including a current dearth of new empirical studies debunking the practice, the proliferation of questionable research favorable to FC, and the increased acceptance by academic journals of the legitimacy of FC have fueled this resurgence. I suggest a series of activist approaches to counter the acceptance of FC as legitimate educational practice.
C1 [Mostert, Mark P.] Regent Univ, Virginia Beach, VA 23454 USA.
RP Mostert, MP (reprint author), Regent Univ, Sch Educ, 1000 Univ Dr, Virginia Beach, VA 23454 USA.
EM markmos@regent.edu
CR [Anonymous], 2014, SKEPTIC REPORT
[Anonymous], 2014, SKEPTICS DICT
Associated Press, 2014, MEASLES OUTBREAK WOR
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NR 48
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1540-7969
EI 2169-2408
J9 RES PRACT PERS SEV D
JI Res. Pract. Pers. Sev. Disabil.
PD SEP
PY 2014
VL 39
IS 3
SI SI
BP 203
EP 210
DI 10.1177/1540796914556779
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA CB7HK
UT WOS:000349797300005
ER
PT J
AU Domire, SC
Wolfe, P
AF Domire, Sarah C.
Wolfe, Pamela
TI Effects of Video Prompting Techniques on Teaching Daily Living Skills to
Children With Autism Spectrum Disorders: A Review
SO RESEARCH AND PRACTICE FOR PERSONS WITH SEVERE DISABILITIES
LA English
DT Review
DE autism; technology; video-based instruction; video prompting; daily
living skills
ID SINGLE-SUBJECT RESEARCH; DEVELOPMENTAL-DISABILITIES; INTELLECTUAL
DISABILITY; ERROR-CORRECTION; STUDENTS; INDIVIDUALS; INSTRUCTION;
TECHNOLOGY; SELF; INTERVENTION
AB Video-based instruction is becoming a common intervention in today's classrooms. Previous research has focused primarily on video modeling techniques that required the student to watch an entire video of the task before attempting to complete the task independently. Video prompting is a form of video instruction that breaks down target skills into steps that are then performed directly after viewing each clip. The present review examined studies using video prompting techniques to teach functional and daily living skills to individuals with autism spectrum disorders (ASD). The focus of the review was on evaluation of the effectiveness of video prompting and the factors that affect student attention to the video, retention of target behavior, production of target behavior, and motivation. Results showed that video prompting was an effective intervention for teaching a wide array of target skills and that students with ASD were able to generalize and maintain the acquired skills. Video prompting was also shown to be more effective than both static picture prompts and video modeling techniques in terms of percentage of correct independent responding. Suggestions for practice and future research are discussed.
C1 [Domire, Sarah C.; Wolfe, Pamela] Penn State Univ, University Pk, PA 16802 USA.
RP Domire, SC (reprint author), Penn State Univ, 219 CEDAR Bldg, University Pk, PA 16802 USA.
EM scd144@psu.edu
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Wong C., 2013, EVIDENCE BASED PRACT
NR 61
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1540-7969
EI 2169-2408
J9 RES PRACT PERS SEV D
JI Res. Pract. Pers. Sev. Disabil.
PD SEP
PY 2014
VL 39
IS 3
SI SI
BP 211
EP 226
DI 10.1177/1540796914555578
PG 16
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA CB7HK
UT WOS:000349797300006
ER
PT J
AU Kurth, JA
Morningstar, ME
Kozleski, EB
AF Kurth, Jennifer A.
Morningstar, Mary E.
Kozleski, Elizabeth B.
TI The Persistence of Highly Restrictive Special Education Placements for
Students With Low-Incidence Disabilities
SO RESEARCH AND PRACTICE FOR PERSONS WITH SEVERE DISABILITIES
LA English
DT Article
DE inclusive education; low-incidence disabilities; severe disabilities;
instruction
ID SIGNIFICANT COGNITIVE DISABILITIES; INTELLECTUAL DISABILITIES;
LEARNING-DISABILITIES; INCLUSION; ADOLESCENTS; AUTISM; IMPACT;
INSTRUCTION; SETTINGS; CHILDREN
AB The purpose of this study is to analyze the Least Restrictive Environment (LRE) data that states and U. S. territories report from the Office of Special Education Programs (OSEP) and discuss the status of the most restrictive special education placement settings for students with disabilities. In this analysis, we found that (a) states do not set rigorous improvement goals to reduce restrictive placements, (b) the percentage of students with disabilities placed in restrictive placements have remained essentially unchanged over the past decade, and (c) students with low-incidence (severe) disabilities are disproportionally placed in restrictive placements. These results suggest that segregated educational experiences continue for thousands of students with disabilities in spite of evidence that shows that opportunities to learn and develop are enhanced in more inclusive educational settings.
C1 [Kurth, Jennifer A.] Univ Kansas, Lawrence, KS 66045 USA.
[Morningstar, Mary E.] Univ Kansas, Dept Special Educ, Lawrence, KS 66045 USA.
[Kozleski, Elizabeth B.] Univ Kansas, Special Educ Program, Lawrence, KS 66045 USA.
RP Kurth, JA (reprint author), Univ Kansas, 1122 West Campus Rd, Lawrence, KS 66045 USA.
EM jkurth@ku.edu
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Dessemontet RS, 2012, J INTELL DISABIL RES, V56, P579, DOI 10.1111/j.1365-2788.2011.01497.x
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Dymond S. K., 2007, J DISABIL POLICY STU, V18, P133, DOI 10.1177/10442073070180030201
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Herih T., 2011, I USED THINK NOW I T, P59
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Morningstar M. E., TRENDS PLACEMENT STU
Office of Special Education Programs, 2009, SPP APR REL REQ B
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NR 37
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1540-7969
EI 2169-2408
J9 RES PRACT PERS SEV D
JI Res. Pract. Pers. Sev. Disabil.
PD SEP
PY 2014
VL 39
IS 3
SI SI
BP 227
EP 239
DI 10.1177/1540796914555580
PG 13
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA CB7HK
UT WOS:000349797300007
ER
PT J
AU Ahmed, SS
Unland, T
Slaven, JE
Nitu, ME
Rigby, MR
AF Ahmed, Sheikh Sohail
Unland, Tamara
Slaven, James E.
Nitu, Mara E.
Rigby, Mark R.
TI Successful Use of Intravenous Dexmedetomidine for Magnetic Resonance
Imaging Sedation in Autistic Children
SO SOUTHERN MEDICAL JOURNAL
LA English
DT Article
DE autistic spectrum disorders; conscious sedation; dexmedetomidine;
magnetic resonance imaging; pediatrics
ID PEDIATRIC-PATIENTS; CHLORAL HYDRATE; DEVELOPMENTAL DISORDERS; DOSE
DEXMEDETOMIDINE; SPECTRUM DISORDERS; SAFE SEDATION; DOUBLE-BLIND;
MANAGEMENT; MRI; PROPOFOL
AB Objectives Autism and autism spectrum disorders (A/ASD) represent a family of neurodevelopmental conditions that are associated with overactive, difficult-to-control behaviors. Sedating these patients for magnetic resonance imaging (MRI) poses challenges. Children with A/ASD were examined against clinical controls to determine the effectiveness and safety of intravenous (IV) dexmedetomidine for deep sedation.
Methods The quality assurance data on all of the children who received IV dexmedetomidine sedation for MRI between July 2007 and December 2012 were reviewed. Patients in both groups were sedated by an intensivist-based team with a standard plan of 2 g/kg IV dexmedetomidine administered for 10 minutes followed by an infusion of 1 gkg(-1)hour(-1). The amount of IV dexmedetomidine was titrated to the deep level of sedation. A total of 56 patients in the A/ASD group and 107 in the control group were sedated with no reported sedation failures. Sedation parameters were compared between the A/ASD and control groups using analysis of covariance models, controlling for age, sex, and weight.
Results Children in the A/ASD group were predominantly male (73%) and older (6.1 0.3 years) than children in the control group (56%; 5.0 +/- 0.2 years; P < 0.05 for both). Procedure time was significantly shorter for patients in the A/ASD group than in control patients (34.6 +/- 2.4 vs 44.3 +/- 1.6 minutes; P < 0.05). The A/ASD and control groups required a similar IV bolus of dexmedetomidine (2.6 g/kg +/- 0.1 vs 2.4 g/kg +/- 0.10; P = 0.29), with a significantly lower infusion dose in the A/ASD group (0.74 g/kg +/- 0.05 vs 0.89 g/kg +/- 0.03; P < 0.05). Heart rates were similar in the A/ASD group and the control group (67.0 beats per minute +/- 1.6 vs 69.3 +/- 1.1 beats per minute; P = 0.250). There were no complications. Recovery time was approximately 7 minutes longer in the A/ASD group than in the control group, but this was nonsignificant (101.2 +/- 3.5 minutes vs 94.2 +/- 2.4 minutes; P = 0.12). Analyses were performed using analysis of covariance methods and generalized linear models to control for age, sex, and weight.
Conclusions Children with A/ASD can be successfully sedated for MRIs with IV dexmedetomidine without complications.
C1 [Ahmed, Sheikh Sohail] Indiana Univ Sch Med, Riley Hosp Children, Dept Pediat, Indiana Univ Hlth, Indianapolis, IN 46202 USA.
Indiana Univ Sch Med, Dept Biostat, Indianapolis, IN 46202 USA.
RP Ahmed, SS (reprint author), Indiana Univ Sch Med, Riley Hosp Children, Dept Pediat, Indiana Univ Hlth, 705 Riley Hosp Dr,RI 2117, Indianapolis, IN 46202 USA.
EM ssahmed@iupui.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 43
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0038-4348
EI 1541-8243
J9 SOUTH MED J
JI South.Med.J.
PD SEP
PY 2014
VL 107
IS 9
BP 559
EP 564
PG 6
WC Medicine, General & Internal
SC General & Internal Medicine
GA CA6VK
UT WOS:000349053700005
PM 25188619
ER
PT J
AU Mikeska, T
Craig, JM
AF Mikeska, Thomas
Craig, Jeffrey M.
TI DNA Methylation Biomarkers: Cancer and Beyond
SO Genes
LA English
DT Review
DE cancer; diabetes; obesity; smoking; stress; autism; schizophrenia;
bipolar disorder; depression; environmental factors
ID EPIGENOME-WIDE ASSOCIATION; MGMT PROMOTER METHYLATION;
GLUCOCORTICOID-RECEPTOR GENE; POLYMERASE-CHAIN-REACTION;
POSTTRAUMATIC-STRESS-DISORDER; DEPENDENT PROBE AMPLIFICATION;
PRADER-WILLI-SYNDROME; MOLECULAR PATHOLOGICAL EPIDEMIOLOGY; CHRONIC
LYMPHOCYTIC-LEUKEMIA; CARDIOVASCULAR-DISEASE RISK
AB Biomarkers are naturally-occurring characteristics by which a particular pathological process or disease can be identified or monitored. They can reflect past environmental exposures, predict disease onset or course, or determine a patient's response to therapy. Epigenetic changes are such characteristics, with most epigenetic biomarkers discovered to date based on the epigenetic mark of DNA methylation. Many tissue types are suitable for the discovery of DNA methylation biomarkers including cell-based samples such as blood and tumor material and cell-free DNA samples such as plasma. DNA methylation biomarkers with diagnostic, prognostic and predictive power are already in clinical trials or in a clinical setting for cancer. Outside cancer, strong evidence that complex disease originates in early life is opening up exciting new avenues for the detection of DNA methylation biomarkers for adverse early life environment and for estimation of future disease risk. However, there are a number of limitations to overcome before such biomarkers reach the clinic. Nevertheless, DNA methylation biomarkers have great potential to contribute to personalized medicine throughout life. We review the current state of play for DNA methylation biomarkers, discuss the barriers that must be crossed on the way to implementation in a clinical setting, and predict their future use for human disease.
C1 [Mikeska, Thomas] Genet Technol Ltd, Fitzroy, Vic 3065, Australia.
[Craig, Jeffrey M.] Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia.
[Craig, Jeffrey M.] Univ Melbourne, Dept Paediat, Parkville, Vic 3052, Australia.
RP Craig, JM (reprint author), Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia.
EM thomas.mikeska@gtglabs.com; jeff.craig@mcri.edu.au
RI Mikeska, Thomas/B-4876-2008
OI Mikeska, Thomas/0000-0003-1318-0859
FU Murdoch Childrens Research Institute (MCRI); National Health and Medical
Research Council; National Institutes of Health; Australian Twin
Registry; Victorian Government's Operational Infrastructure Support
Program
FX Jeffrey M. Craig is supported by the Murdoch Childrens Research
Institute (MCRI), the National Health and Medical Research Council, the
National Institutes of Health, and the Australian Twin Registry. This
work was supported by the Victorian Government's Operational
Infrastructure Support Program.
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NR 295
TC 3
Z9 4
PU MDPI AG
PI BASEL
PA POSTFACH, CH-4005 BASEL, SWITZERLAND
SN 2073-4425
J9 GENES-BASEL
JI Genes
PD SEP
PY 2014
VL 5
IS 3
BP 821
EP 864
DI 10.3390/genes5030821
PG 44
WC Genetics & Heredity
SC Genetics & Heredity
GA CA4EU
UT WOS:000348857800021
PM 25229548
ER
PT J
AU Johnson, C
AF Johnson, Chwen
TI Development and Pilot Testing of a Healthy Eating Video-Supported
Program for Adults with Developmental Disabilities
SO CANADIAN JOURNAL OF DIETETIC PRACTICE AND RESEARCH
LA English
DT Article
ID INTELLECTUAL DISABILITIES; INSTRUCTION; NUTRITION; STUDENTS; MODERATE;
AUTISM
AB Video technology is a potentially effective means to teach individuals with developmental disabilities (DD) about healthy eating. Research in this area, however, is relatively unexplored. This study developed and tested a video intervention to teach healthy eating to adults with DD. A 5-segment educational video, an accompanying workbook, and a facilitator guide were developed to teach basic healthy eating concepts to adults with DD. Twelve adults with DD took part in a 5-week educational program led by trained facilitators using the materials created. Pre- and posttests were used to measure knowledge gained from participating in the intervention. Seventy-five percent (n = 9) of participants improved their knowledge scores, 8% (n = 1) maintained residue knowledge, and 17% (n = 2) had a decrease in their score. Video instructions can be an effective intervention modality to increase knowledge in adults with DD about healthy eating. Key enablers identified for participants' knowledge gain included video content developed based on the learning need and cognitive level of intended users; program delivered by facilitators trained in effective teaching strategies; and engaging the participants' staff, family, and caregivers to provide ongoing reinforcement about healthy eating.
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Ayres Kevin M, 2008, Journal of Special Education Technology, V23
Bellini S, 2007, EXCEPT CHILDREN, V73, P264
Brill MF, 2011, J EXTENS, V49
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Mechling L., 2005, Journal of Special Education Technology, V20
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Sheehan M., 2002, FRUIT RAINBOW HLTH E
Shevell M, 2003, NEUROLOGY, V60, P367
NR 16
TC 0
Z9 0
PU DIETITIANS CANADA
PI TORONTO
PA 480 UNIV AVE, SUITE 604, TORONTO, ONTARIO M5G 1V2, CANADA
SN 1486-3847
EI 2292-9592
J9 CAN J DIET PRACT RES
JI Can. J. Diet. Pract. Res.
PD SEP
PY 2014
VL 75
IS 3
BP 140
EP 144
DI 10.3148/cjdpr-2014-002
PG 5
WC Nutrition & Dietetics
SC Nutrition & Dietetics
GA AZ9DW
UT WOS:000348513100009
ER
PT J
AU Schumann, K
Zaki, J
Dweck, CS
AF Schumann, Karina
Zaki, Jamil
Dweck, Carol S.
TI Addressing the Empathy Deficit: Beliefs About the Malleability of
Empathy Predict Effortful Responses When Empathy Is Challenging
SO JOURNAL OF PERSONALITY AND SOCIAL PSYCHOLOGY
LA English
DT Article
DE empathy; lay theories; conflict resolution; intergroup relations;
altruism
ID AMERICAN-COLLEGE-STUDENTS; HIGH-FUNCTIONING AUTISM; IMPLICIT THEORIES;
INDIVIDUAL-DIFFERENCES; CONFLICT-RESOLUTION; ASPERGER-SYNDROME; NEURAL
RESPONSES; MECHANICAL TURK; MIRROR NEURONS; SELF-THEORIES
AB Empathy is often thought to occur automatically. Yet, empathy frequently breaks down when it is difficult or distressing to relate to people in need, suggesting that empathy is often not felt reflexively. Indeed, the United States as a whole is said to be displaying an empathy deficit. When and why does empathy break down, and what predicts whether people will exert effort to experience empathy in challenging contexts? Across 7 studies, we found that people who held a malleable mindset about empathy (believing empathy can be developed) expended greater empathic effort in challenging contexts than did people who held a fixed theory (believing empathy cannot be developed). Specifically, a malleable theory of empathy whether measured or experimentally induced promoted (a) more self-reported effort to feel empathy when it is challenging (Study 1); (b) more empathically effortful responses to a person with conflicting views on personally important sociopolitical issues (Studies 2-4); (c) more time spent listening to the emotional personal story of a racial outgroup member (Study 5); and (d) greater willingness to help cancer patients in effortful, face-to-face ways (Study 6). Study 7 revealed a possible reason for this greater empathic effort in challenging contexts: a stronger interest in improving one's empathy. Together, these data suggest that people's mindsets powerfully affect whether they exert effort to empathize when it is needed most, and these data may represent a point of leverage in increasing empathic behaviors on a broad scale.
C1 [Schumann, Karina; Zaki, Jamil; Dweck, Carol S.] Stanford Univ, Dept Psychol, Stanford, CA 94305 USA.
RP Schumann, K (reprint author), Stanford Univ, Dept Psychol, Jordan Hall,Bldg 01-420,450 Serra Mall, Stanford, CA 94305 USA.
EM karinas@stanford.edu
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Zaki J, 2012, NAT NEUROSCI, V15, P675, DOI 10.1038/nn.3085
NR 84
TC 3
Z9 3
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0022-3514
EI 1939-1315
J9 J PERS SOC PSYCHOL
JI J. Pers. Soc. Psychol.
PD SEP
PY 2014
VL 107
IS 3
BP 475
EP 493
DI 10.1037/a0036738
PG 19
WC Psychology, Social
SC Psychology
GA AZ6MU
UT WOS:000348334600006
PM 25133727
ER
PT J
AU Chiang, H
Teng, C
AF Chiang, H.
Teng, C.
TI RISK OF CANCER IN PATIENTS WITH AUTISM SPECTRUM DISORDER: A NATIONWIDE
POPULATION-BASED LONGITUDINAL STUDY
SO ANNALS OF ONCOLOGY
LA English
DT Meeting Abstract
CT 39th ESMO Congress (ESMO)
CY SEP 26-30, 2014
CL Madrid, SPAIN
SP ESMO
C1 [Chiang, H.] Far Eastern Mem Hosp, New Taipei City, Taiwan.
[Teng, C.] Far Eastern Mem Hosp, Dept Med, Div Oncol & Hematol, New Taipei City, Taiwan.
NR 0
TC 0
Z9 0
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0923-7534
EI 1569-8041
J9 ANN ONCOL
JI Ann. Oncol.
PD SEP
PY 2014
VL 25
SU 4
MA 1372P
DI 10.1093/annonc/mdu352.4
PG 1
WC Oncology
SC Oncology
GA AX4KG
UT WOS:000346901000393
ER
PT J
AU Bosse, KR
Shukla, AR
Pawel, B
Chikwava, KR
Santi, M
Tooke, L
Castagna, K
Biegel, JA
Bagatell, R
AF Bosse, Kristopher R.
Shukla, Aseem R.
Pawel, Bruce
Chikwava, Kudakwashe R.
Santi, Mariarita
Tooke, Laura
Castagna, Katherine
Biegel, Jaclyn A.
Bagatell, Rochelle
TI Malignant rhabdoid tumor of the bladder and ganglioglioma in a 14
year-old male with a germline 22q11.2 deletion
SO CANCER GENETICS
LA English
DT Article
DE Rhabdoid; SMARCB1; distal 22q11.2 syndrome
ID ATYPICAL TERATOID/RHABDOID TUMOR; OF-THE-LITERATURE; SWI/SNF COMPLEX;
MUTATIONS; DISORDER; CANCER; SMARCB1/INI1; GENE; INI1
AB Malignant rhabdoid tumors (MRTs) are rare pediatric malignancies characterized by clinically aggressive lesions that typically show loss of SMARCB1 expression. We herein describe a case of a malignant rhabdoid tumor of the bladder in a 14-year-old male with an autism spectrum disorder and a de novo 3 Mb germline deletion in chromosome band 22q11.2 that included the SMARCB1 gene. The malignancy developed in the setting of chronic hematuria (>2 years) following the occurrence of two other lesions: a central nervous system ganglioglioma and an intraoral dermoid cyst. MRTs of the bladder are exceedingly rare, and this patient is the oldest child reported with this tumor to date. This case adds to the growing body of literature regarding the recently described, phenotypically diverse, distal 22q11.2 syndrome. Furthermore, this is the first reported case in which an MRT of the bladder appears to have developed from a pre-existing bladder lesion. Finally, this case further supports a rhabdoid tumorigenesis model in which heterozygous loss of SMARCB1 predisposes to initial tumor formation with intact SMARCB1 expression, with subsequent inactivation of the other SMARCB1 allele, which results in transformation into more malignant lesions.
C1 [Bosse, Kristopher R.; Bagatell, Rochelle] Univ Penn, Childrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA.
[Bosse, Kristopher R.; Shukla, Aseem R.; Pawel, Bruce; Chikwava, Kudakwashe R.; Santi, Mariarita; Tooke, Laura; Castagna, Katherine; Biegel, Jaclyn A.; Bagatell, Rochelle] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA.
[Shukla, Aseem R.] Univ Penn, Childrens Hosp Philadelphia, Div Urol, Philadelphia, PA 19104 USA.
[Pawel, Bruce; Chikwava, Kudakwashe R.; Santi, Mariarita; Tooke, Laura; Castagna, Katherine; Biegel, Jaclyn A.] Univ Penn, Childrens Hosp Philadelphia, Dept Pathol, Philadelphia, PA 19104 USA.
[Bosse, Kristopher R.; Biegel, Jaclyn A.] Univ Penn, Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA.
RP Bagatell, R (reprint author), Univ Penn, Childrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA.
EM bagatellr@email.chop.edu
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NR 29
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 2210-7762
EI 2210-7770
J9 CANCER GENET-NY
JI Cancer Genet.
PD SEP
PY 2014
VL 207
IS 9
SI SI
BP 415
EP 419
DI 10.1016/j.cancergen.2014.05.007
PG 5
WC Oncology; Genetics & Heredity
SC Oncology; Genetics & Heredity
GA AX3DB
UT WOS:000346819600013
PM 25018128
ER
PT J
AU Martin, L
Sample, H
Gregg, M
Wood, C
AF Martin, Loren
Sample, Hannah
Gregg, Michael
Wood, Caleb
TI Validation of operant social motivation paradigms using BTBR T+tf/J and
C57BL/6J inbred mouse strains
SO BRAIN AND BEHAVIOR
LA English
DT Article
DE Autism; behavior; mouse; open field; progressive ratio; three-chamber
task; valence
ID T PLUS TF/J; REPETITIVE BEHAVIOR; UNUSUAL REPERTOIRE; AUTISM; MICE;
MODEL; VOCALIZATIONS; PHENOTYPES; RELEVANT
AB Background: As purported causal factors are identified for autism spectrum disorder (ASD), new assays are needed to better phenotype animal models designed to explore these factors. With recent evidence suggesting that deficits in social motivation are at the core of ASD behavior, the development of quantitative measures of social motivation is particularly important. The goal of our study was to develop and validate novel assays to quantitatively measure social motivation in mice. Methods: In order to test the validity of our paradigms, we compared the BTBR strain, with documented social deficits, to the prosocial C57BL/6J strain. Two novel conditioning paradigms were developed that allowed the test mouse to control access to a social partner. In the social motivation task, the test mice lever pressed for a social reward. The reward contingency was set on a progressive ratio of reinforcement and the number of lever presses achieved in the final trial of a testing session (breakpoint) was used as an index of social motivation. In the valence comparison task, motivation for a food reward was compared to a social reward. We also explored activity, social affiliation, and preference for social novelty through a series of tasks using an ANY-Maze video-tracking system in an open-field arena. Results: BTBR mice had significantly lower breakpoints in the social motivation paradigm than C57BL/6J mice. However, the valence comparison task revealed that BTBR mice also made significantly fewer lever presses for a food reward. Conclusions: The results of the conditioning paradigms suggest that the BTBR strain has an overall deficit in motivated behavior. Furthermore, the results of the open-field observations may suggest that social differences in the BTBR strain are anxiety induced.
C1 [Martin, Loren; Sample, Hannah; Gregg, Michael; Wood, Caleb] Azusa Pacific Univ, Dept Grad Psychol, Azusa, CA 91702 USA.
RP Martin, L (reprint author), Azusa Pacific Univ, Dept Grad Psychol, 901 E Alosta Ave, Azusa, CA 91702 USA.
EM lamartin@apu.edu
FU Faculty Research Council at Azusa Pacific University; Faculty for
Undergraduate Neuroscience and San Diego Instruments
FX We thank the Faculty Research Council at Azusa Pacific University for
internal grant support. We also thank Faculty for Undergraduate
Neuroscience and San Diego Instruments for grant support in the form of
an equipment loan of the ANY-Maze system.
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NR 21
TC 1
Z9 1
PU JOHN WILEY & SONS INC
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN, NJ 07030 USA
SN 2162-3279
J9 BRAIN BEHAV
JI Brain Behav.
PD SEP
PY 2014
VL 4
IS 5
BP 754
EP 764
DI 10.1002/brb3.273
PG 11
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AX5NW
UT WOS:000346974400014
PM 25328850
ER
PT J
AU Xiang, AH
Wang, X
Martinez, MP
Getahun, D
Page, KA
Buchanan, TA
Curry, ES
Coleman, KJ
AF Xiang, A. H.
Wang, X.
Martinez, M. P.
Getahun, D.
Page, K. A.
Buchanan, T. A.
Curry, E. S.
Coleman, K. J.
TI Gestational diabetes mellitus and risk for autism in offspring
SO DIABETOLOGIA
LA English
DT Meeting Abstract
C1 [Xiang, A. H.; Wang, X.; Martinez, M. P.; Getahun, D.; Coleman, K. J.] Kaiser Permanente So Calif, Pasadena, CA 91101 USA.
[Page, K. A.; Buchanan, T. A.] Univ So Calif, Keck Sch Med, Dept Med, Los Angeles, CA 90033 USA.
[Curry, E. S.] Kaiser Permanente Fontana Med Ctr, Fontana, CA USA.
NR 0
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0012-186X
EI 1432-0428
J9 DIABETOLOGIA
JI Diabetologia
PD SEP
PY 2014
VL 57
SU 1
MA 156
BP S72
EP S73
PG 2
WC Endocrinology & Metabolism
SC Endocrinology & Metabolism
GA AS6PX
UT WOS:000344386100156
ER
PT J
AU Wu, P
Teot, L
Murdoch, G
Monaghan-Nichols, AP
McFadden, K
AF Wu, Peter
Teot, Lisa
Murdoch, Geoffrey
Monaghan-Nichols, A. Paula
McFadden, Kathryn
TI Neuropathology of 22q11 Deletion Syndrome in an Infant
SO PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
LA English
DT Article
DE 22q11 deletion syndrome; cortex; interstitial neurons; neuropathology;
subplate; velocardiofacial syndrome
ID MOUSE MODEL; GENES; MRI
AB The 22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans and one of the chromosomal conditions most associated with psychosis and autism spectrum disorder. To date, only 2 neuropathologic studies of 22q11DS have been reported. Findings included polymicrogyria, neuronal heterotopias, excess subcortical white-matter (interstitial) neurons, significant white-matter gliosis/hypomyelination, and microvasculopathy. Here, we report on a 3-month-old infant with documented 22q11DS, tetralogy of Fallot, and pulmonary atresia. The brain exhibited tortuous cerebral vessels and proportionately smaller occipital lobes. Histologic examination revealed cerebral white-matter pathology and subtle differences in cortical lamination, including an excess of interstitial white-matter neurons compared with a sample of age-matched controls. There was a 15% increase in DARPP-32+ medium spiny neurons in the anterior-superior caudate. In this first neuropathologic report of an infant with 22q11DS, the findings were similar to previously reported manifestations and are likely secondary to perfusion issues, developmental microvasculopathy, and abnormal frontal cortical development.
C1 [Wu, Peter] Univ Pittsburgh, Dietrich Sch Arts & Sci, Pittsburgh, PA 15260 USA.
[Teot, Lisa] Boston Childrens Hosp, Dept Pathol, Boston, MA 02115 USA.
[Murdoch, Geoffrey] Univ Pittsburgh, Sch Med, Div Neuropathol, Pittsburgh, PA 15213 USA.
[Monaghan-Nichols, A. Paula; McFadden, Kathryn] Univ Pittsburgh, Sch Med, Dept Neurobiol, Pittsburgh, PA 15213 USA.
RP McFadden, K (reprint author), Univ Pittsburgh, Sch Med, Dept Neurobiol, 6065 BST 3,3501 Fifth Ave, Pittsburgh, PA 15213 USA.
EM kamst113@pitt.edu
CR Avino TA, 2010, BRAIN RES, V1360, P138, DOI 10.1016/j.brainres.2010.08.091
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NR 15
TC 0
Z9 0
PU ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS
PI LAWRENCE
PA 810 EAST 10TH STREET, LAWRENCE, KS 66044 USA
SN 1093-5266
EI 1615-5742
J9 PEDIATR DEVEL PATHOL
JI Pediatr. Dev. Pathol.
PD SEP-OCT
PY 2014
VL 17
IS 5
BP 386
EP 392
DI 10.2350/13-11-1399-CR.1
PG 7
WC Pathology; Pediatrics
SC Pathology; Pediatrics
GA AW2OJ
UT WOS:000346127600009
PM 25019421
ER
PT J
AU Liggins, D
AF Liggins, David
TI Abstract Expressionism and the Communication Problem
SO BRITISH JOURNAL FOR THE PHILOSOPHY OF SCIENCE
LA English
DT Article
ID MATHEMATICS; SCIENCE; AUTISM
AB Some philosophers have recently suggested that the reason mathematics is useful in science is that it expands our expressive capacities. Of these philosophers, only Stephen Yablo has put forward a detailed account of how mathematics brings this advantage. In this article, I set out Yablo's view and argue that it is implausible. Then, I introduce a simpler account and show it is a serious rival to Yablo's.
C1 Univ Manchester, Sch Social Sci, Manchester M13 9PL, Lancs, England.
RP Liggins, D (reprint author), Univ Manchester, Sch Social Sci, Oxford Rd, Manchester M13 9PL, Lancs, England.
EM david.liggins@manchester.ac.uk
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NR 31
TC 0
Z9 0
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0007-0882
EI 1464-3537
J9 BRIT J PHILOS SCI
JI Br. J. Philos. Sci.
PD SEP
PY 2014
VL 65
IS 3
BP 599
EP 620
DI 10.1093/bjps/axt012
PG 22
WC History & Philosophy Of Science
SC History & Philosophy of Science
GA AU8GU
UT WOS:000345835400008
ER
PT J
AU Danov, R
AF Danov, R.
TI Diagnostic Challenges and Educational Planning in Autism
SO ARCHIVES OF CLINICAL NEUROPSYCHOLOGY
LA English
DT Meeting Abstract
NR 0
TC 0
Z9 0
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0887-6177
EI 1873-5843
J9 ARCH CLIN NEUROPSYCH
JI Arch. Clin. Neuropsychol.
PD SEP
PY 2014
VL 29
IS 6
SI SI
MA B-43
PG 1
WC Psychology, Clinical; Psychology
SC Psychology
GA AU9CW
UT WOS:000345890200138
ER
PT J
AU DiCowden, M
Miller, S
Brumer, C
Fernandez, V
AF DiCowden, M.
Miller, S.
Brumer, C.
Fernandez, V
TI Using the International Classification of Functioning to Track
Functional Improvement: A 9-Year Longitudinal Study of an Adolescent
with Severe Autism
SO ARCHIVES OF CLINICAL NEUROPSYCHOLOGY
LA English
DT Meeting Abstract
NR 0
TC 0
Z9 0
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0887-6177
EI 1873-5843
J9 ARCH CLIN NEUROPSYCH
JI Arch. Clin. Neuropsychol.
PD SEP
PY 2014
VL 29
IS 6
SI SI
MA C-62
PG 1
WC Psychology, Clinical; Psychology
SC Psychology
GA AU9CW
UT WOS:000345890200249
ER
PT J
AU Wellmann, KA
Varlinskaya, EI
Mooney, SM
AF Wellmann, Kristen A.
Varlinskaya, Elena I.
Mooney, Sandra M.
TI D-Cycloserine ameliorates social alterations that result from prenatal
exposure to valproic acid
SO BRAIN RESEARCH BULLETIN
LA English
DT Article
DE Adolescence; Autism; Prenatal; Rat; Social behavior; Ultrasonic
vocalization
ID AUTISM SPECTRUM DISORDERS; ANXIETY DISORDER; ULTRASONIC VOCALIZATIONS;
IMPROVES SOCIABILITY; REPEATED RESTRAINT; PARTIAL AGONIST; ANIMAL-MODEL;
ADULT RATS; MICE; BEHAVIOR
AB Prenatal exposure to valproic acid (VPA) alters rodent social interactions in a dose-dependent way: exposure to a high dose of VPA (>500 mg/kg) mid-gestation decreases social interactions whereas a moderate dose of VPA (350 mg/kg) increases peer-directed social behavior. The moderate dose also decreases expression of the mRNA for serine in amygdala and orbitofrontal cortex. In this study, we examined whether D-cycloserine could ameliorate VPA-induced alterations in ultrasonic vocalizations (USVs), social interactions, and locomotor activity. Pregnant Sprague Dawley rats were given intraperintoneal injections of VPA (200 mg/kg each) on gestational days 12, 12.5 and 13; controls were injected with saline. Offspring received a subcutaneous injection of saline or D-cycloserine (32 or 64 mg/kg) either acutely (1 h prior to testing) or repeatedly (once per day for four days). Social interactions were assessed during late adolescence, and USVs were recorded concomitantly. Male and female rats that were exposed to VPA demonstrated more locomotor activity than control animals during habituation to the testing chamber. VPA-exposed males showed increased play fighting. D-Cycloserine normalized the VPA-induced increase in play fighting in males and also increased social motivation in females. When the pair contained a VPA-exposed rat, significantly fewer USVs were emitted and 16% of the vocalizations were of a novel waveform. These effects were not seen in pairs containing VPA-exposed animals that were treated with D-cycloserine. Overall, these findings are consistent with data from other laboratories suggesting that D-cycloserine may be a promising pharmacotherapeutic compound for improving social behavior disorders. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Wellmann, Kristen A.; Mooney, Sandra M.] Univ Maryland, Dept Pediat, Baltimore, MD 21201 USA.
[Varlinskaya, Elena I.] SUNY Binghamton, Dept Psychol, Ctr Dev & Behav Neurosci, Binghamton, NY 13902 USA.
[Varlinskaya, Elena I.; Mooney, Sandra M.] Dev Exposure Alcohol Res Ctr, Baltimore, MD 21201 USA.
[Varlinskaya, Elena I.; Mooney, Sandra M.] Dev Exposure Alcohol Res Ctr, Binghamton, NY 13902 USA.
[Varlinskaya, Elena I.; Mooney, Sandra M.] Dev Exposure Alcohol Res Ctr, Syracuse, NY 13210 USA.
RP Mooney, SM (reprint author), Univ Maryland, Dept Pediat, Baltimore, MD 21201 USA.
EM kwellmann@peds.umaryland.edu; varlinsk@binghamton.edu;
smooney@peds.umaryland.edu
FU Autism Speaks [4946]; National Institute of Alcohol Abuse and Alcoholism
[AA018693, AA0178231]
FX The authors thank Celina Tran and Nathan Nguyen for technical assistance
and Dr. Jeffery Burgdorf for advice regarding the USV data. This
research was supported by Autism Speaks (4946 to SMM) and the National
Institute of Alcohol Abuse and Alcoholism (AA018693 and AA0178231 to
SMM).
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NR 38
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0361-9230
EI 1873-2747
J9 BRAIN RES BULL
JI Brain Res. Bull.
PD SEP
PY 2014
VL 108
BP 1
EP 9
DI 10.1016/j.brainresbull.2014.08.001
PG 9
WC Neurosciences
SC Neurosciences & Neurology
GA AU2UC
UT WOS:000345471900001
PM 25130667
ER
PT J
AU Limeres-Posse, J
Castano-Novoa, P
Abeleira-Pazos, M
Ramos-Barbosa, I
AF Limeres-Posse, Jacobo
Castano-Novoa, Patricia
Abeleira-Pazos, Maite
Ramos-Barbosa, Isabel
TI Behavioural aspects of patients with Autism Spectrum Disorders (ASD)
that affect their dental management
SO MEDICINA ORAL PATOLOGIA ORAL Y CIRUGIA BUCAL
LA English
DT Article
DE Dentistry; autism; ASD; behavior management
ID CARIES EXPERIENCE; CHILDREN; ADOLESCENTS; ADULTS
AB Dental treatment in patients with Autism Spectrum Disorders (ASD) can be complicated due to the presence of behavioral alterations. In this group, there are no specific behavioral profiles that allow dentist to anticipate the attitude that a patient will show during a visit. Thus, behavioral attitudes have been described that vary from total permissiveness and collaboration during even bloody procedures, to the absolute impossibility in conducting a simple oral examination.
There is no effective behavioral management technique for all ASD patients. Prior information, such as the type of ASD or the presence of certain concurrent pathologies can help predict the patient's likely behavior. Therefore, gathering all the information in a preliminary interview with the parents/guardians of the patient is recommended. Knowing these factors will allow individualized behavioral management strategies to be designed and facilitates the planning of dental treatment.
C1 [Limeres-Posse, Jacobo; Castano-Novoa, Patricia; Abeleira-Pazos, Maite; Ramos-Barbosa, Isabel] Univ Santiago de Compostela, Sch Med & Dent, Grp Invest Odontol Medicoquirurg OMEQUI, Santiago De Compostela, Spain.
RP Limeres-Posse, J (reprint author), Fac Med & Odontol USC, Unidad Pacientes Especiales, C Entrerrios Sn, Santiago De Compostela 15782, A Coruna, Spain.
EM jacobo.limeres@usc.es
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NR 34
TC 0
Z9 0
PU MEDICINA ORAL S L
PI VALENCIA
PA CALLE DANIEL BALACIART N 4 PTA 17, VALENCIA, 46020, SPAIN
SN 1698-6946
J9 MED ORAL PATOL ORAL
JI Med. Oral Patol. Oral Cir. Bucal
PD SEP
PY 2014
VL 19
IS 5
BP E467
EP E472
DI 10.4317/medoral.19566
PG 6
WC Dentistry, Oral Surgery & Medicine
SC Dentistry, Oral Surgery & Medicine
GA AU1HO
UT WOS:000345371900007
PM 24608219
ER
PT J
AU Machuca-Portillo, G
Cabrerizo-Merino, C
Cutando-Soriano, A
Gimenez-Prats, MJ
Silvestre-Donat, FJ
Tomas-Carmona, I
AF Machuca-Portillo, Guillermo
Cabrerizo-Merino, Carmen
Cutando-Soriano, Antonio
Gimenez-Prats, Maria-Jose
Silvestre-Donat, Farncisco-Javier
Tomas-Carmona, Inmaculada
TI Consensus Report of the XI Congress of the Spanish Society of Odontology
for the Handicapped and Special Patients
SO MEDICINA ORAL PATOLOGIA ORAL Y CIRUGIA BUCAL
LA English
DT Article
DE Autism; cardiovascular diseases; cerebral palsy; dental implants;
disabled patients; haematological disorders; hospital dentistry
AB This article summarizes the findings of consensus of the XI congress of the SEOEME. All of these conclusions are referring to the review articles responsible to the general rapporteurs in order to bringing up to date knowledge with regard to the use of implants in patients medically compromised and with special needs and, in the dental management of autism and cerebral palsy, in the dental treatment of patients with genetic and adquired haematological disorders, the dental implications of cardiovascular disease and hospital dentistry.
C1 [Machuca-Portillo, Guillermo] Univ Seville, Fac Odontol, E-41009 Seville, Spain.
[Cabrerizo-Merino, Carmen] Univ Odontol Clin, Fac Med, Murcia, Spain.
[Cutando-Soriano, Antonio] Univ Granada, Fac Odontol, E-18071 Granada, Spain.
[Gimenez-Prats, Maria-Jose] Hosp Nen Deu, Barcelona, Spain.
[Silvestre-Donat, Farncisco-Javier] Univ Valencia, Fac Odontol, E-46003 Valencia, Spain.
[Tomas-Carmona, Inmaculada] Univ Santiago de Compostela, Fac Med & Odontol, Santiago De Compostela, Spain.
RP Machuca-Portillo, G (reprint author), Univ Seville, Fac Odontol, C Avicena S-N, E-41009 Seville, Spain.
EM gmachuca@us.es
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NR 10
TC 0
Z9 0
PU MEDICINA ORAL S L
PI VALENCIA
PA CALLE DANIEL BALACIART N 4 PTA 17, VALENCIA, 46020, SPAIN
SN 1698-6946
J9 MED ORAL PATOL ORAL
JI Med. Oral Patol. Oral Cir. Bucal
PD SEP
PY 2014
VL 19
IS 5
BP E495
EP E499
DI 10.4317/medoral.19569
PG 5
WC Dentistry, Oral Surgery & Medicine
SC Dentistry, Oral Surgery & Medicine
GA AU1HO
UT WOS:000345371900012
PM 24608224
ER
PT J
AU Hester, MS
Danzer, SC
AF Hester, Michael S.
Danzer, Steve C.
TI Hippocampal granule cell pathology in epilepsy - A possible structural
basis for comorbidities of epilepsy?
SO EPILEPSY & BEHAVIOR
LA English
DT Review
DE Epilepsy; mTOR; Neurogenesis; Disc1; Reelin; Schizophrenia; Autism
ID TEMPORAL-LOBE EPILEPSY; ADULT DENTATE GYRUS; SEIZURE-INDUCED
NEUROGENESIS; TUBEROUS SCLEROSIS COMPLEX; AUTISM SPECTRUM DISORDERS;
NEWLY GENERATED NEURONS; HILAR BASAL DENDRITES; TRANSLATION REPRESSOR
4E-BP2; ENHANCED SYNAPTIC PLASTICITY; PILOCARPINE-INDUCED SEIZURES
AB Temporal lobe epilepsy in both animals and humans is characterized by abnormally integrated hippocampal dentate granule cells. Among other abnormalities, these cells make axonal connections with inappropriate targets, grow dendrites in the wrong direction, and migrate to ectopic locations. These changes promote the formation of recurrent excitatory circuits, leading to the appealing hypothesis that these abnormal cells may by epileptogenic. While this hypothesis has been the subject of intense study, less attention has been paid to the possibility that abnormal granule cells in the epileptic brain may also contribute to comorbidities associated with the disease. Epilepsy is associated with a variety of general findings, such as memory disturbances and cognitive dysfunction, and is often comorbid with a number of other conditions, including schizophrenia and autism. Interestingly, recent studies implicate disruption of common genes and gene pathways in all three diseases. Moreover, while neuropsychiatric conditions are associated with changes in a variety of brain regions, granule cell abnormalities in temporal lobe epilepsy appear to be phenocopies of granule cell deficits produced by genetic mouse models of autism and schizophrenia, suggesting that granule cell dysmorphogenesis may be a common factor uniting these seemingly diverse diseases. Disruption of common signaling pathways regulating granule cell neurogenesis may begin to provide mechanistic insight into the cooccurrence of temporal lobe epilepsy and cognitive and behavioral disorders. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Hester, Michael S.; Danzer, Steve C.] Cincinnati Childrens Hosp Med Ctr, Dept Anesthesia, Cincinnati, OH 45229 USA.
[Danzer, Steve C.] Univ Cincinnati, Dept Anesthesia, Cincinnati, OH 45267 USA.
[Danzer, Steve C.] Univ Cincinnati, Dept Pediat, Cincinnati, OH 45267 USA.
[Hester, Michael S.; Danzer, Steve C.] Cincinnati Childrens Hosp Med Ctr, Mol & Dev Biol Grad Program, Cincinnati, OH 45229 USA.
RP Danzer, SC (reprint author), 3333 Burnet Ave,ML 2001, Cincinnati, OH 45229 USA.
EM steve.danzer@cchmc.org
FU National Institute of Neurological Disorders and Stroke [R01NS065020,
R01NS062806]
FX This work was supported by the National Institute of Neurological
Disorders and Stroke (SCD, Award Numbers R01NS065020 and R01NS062806).
The content is solely the responsibility of the authors and does not
necessarily represent the official views of the National Institute of
Neurological Disorders and Stroke or the National Institutes of Health.
Special thanks to Victor Santos, Dr. Candi LaSarge, and Dr. Brian Murphy
for help with Figs. 2, 5, and 6, respectively. We would also like to
thank Keri Kaeding for useful comments on earlier versions of this
manuscript.
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NR 209
TC 2
Z9 2
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1525-5050
EI 1525-5069
J9 EPILEPSY BEHAV
JI Epilepsy Behav.
PD SEP
PY 2014
VL 38
SI SI
BP 105
EP 116
DI 10.1016/j.yebeh.2013.12.022
PG 12
WC Behavioral Sciences; Clinical Neurology; Psychiatry
SC Behavioral Sciences; Neurosciences & Neurology; Psychiatry
GA AT9FJ
UT WOS:000345233000016
PM 24468242
ER
PT J
AU Sivapalan, S
Aitchison, KJ
AF Sivapalan, Sudhakar
Aitchison, Katherine J.
TI Neurological Structure Variations in Individuals with Autism Spectrum
Disorder: a Review
SO KLINIK PSIKOFARMAKOLOJI BULTENI-BULLETIN OF CLINICAL PSYCHOPHARMACOLOGY
LA English
DT Review
DE autism spectrum disorder; neuroimaging; brain; MRI; CT; review
ID CORTICAL THICKNESS; HEAD CIRCUMFERENCE; BRAIN ENLARGEMENT;
CORPUS-CALLOSUM; ADULTS; CHILDREN; MRI; FEATURES; VOLUME; SIZE
AB Autism spectrum disorder is a neurodevelopmental disorder that is characterized by impairments in social communication and social interactions along with repetitive, stereotyped behaviors and interests. The spectrum is quite broad, and the pathophysiology appears to be related to a number of factors. A common theme is that the disorder is one of impaired brain development. Neuroimaging studies offer a way to investigate impaired brain development by considering structural differences between those with autism and those without. Areas of focus include neuroanatomical regions that correlate with the clinically recognizable features of autism. In this review of structural studies, volumetric variation in terms of grey and white matter and total brain volume and in terms of neurological structures (e.g. frontal lobe, parietal cortex, amygdala, etc.) is discussed. Although a few trends have been noted, much of the literature demonstrates heterogeneity in the reported findings, which likely reflects the heterogeneity of the clinical presentation of this disorder. Further studies will need to correlate these structural findings with functional data and look to better understand the underlying molecular and genetic processes.
C1 [Sivapalan, Sudhakar] Univ Alberta, Dept Psychiat, Edmonton, AB T6G 2B7, Canada.
[Aitchison, Katherine J.] Univ Alberta, Dept Psychiat, Alberta Centennial Addict & Mental Hlth Res Chair, Edmonton, AB T6G 2E1, Canada.
[Aitchison, Katherine J.] Univ Alberta, Dept Med Genet, Alberta Centennial Addict & Mental Hlth Res Chair, Edmonton, AB T6G 2E1, Canada.
RP Sivapalan, S (reprint author), Univ Alberta, Dept Psychiat, Walter Mackenzie Hlth Sci Ctr 1E1, 8440 112 St NW, Edmonton, AB T6G 2B7, Canada.
EM sivapala@ualberta.ca
FU Government of Alberta
FX Dr. Aitchison holds an Alberta Centennial Addiction and Mental Health
Research Chair funded by the Government of Alberta.
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NR 40
TC 0
Z9 0
PU KURE ILETISIM GRUBU A S
PI ISTANBUL
PA SIRACEVIZLER CAD 43/3 SISLI, ISTANBUL, 34381, TURKEY
SN 1017-7833
J9 KLIN PSIKOFARMAKOL B
JI Klin. Psikofarmakol. Bul.
PD SEP
PY 2014
VL 24
IS 3
BP 268
EP 275
DI 10.5455/bcp.20140903110206
PG 8
WC Pharmacology & Pharmacy; Psychiatry
SC Pharmacology & Pharmacy; Psychiatry
GA AT7HY
UT WOS:000345108400012
ER
PT J
AU Basil, P
Li, Q
Dempster, EL
Mill, J
Sham, PC
Wong, CCY
McAlonan, GM
AF Basil, P.
Li, Q.
Dempster, E. L.
Mill, J.
Sham, P-C
Wong, C. C. Y.
McAlonan, G. M.
TI Prenatal maternal immune activation causes epigenetic differences in
adolescent mouse brain
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID CPG-BINDING-PROTEIN; DNA METHYLATION; GENE-EXPRESSION; RETT-SYNDROME; L1
RETROTRANSPOSITION; BIPOLAR DISORDER; MUS-MUSCULUS; MECP2;
SCHIZOPHRENIA; AUTISM
AB Epigenetic processes such as DNA methylation have been implicated in the pathophysiology of neurodevelopmental disorders including schizophrenia and autism. Epigenetic changes can be induced by environmental exposures such as inflammation. Here we tested the hypothesis that prenatal inflammation, a recognized risk factor for schizophrenia and related neurodevelopmental conditions, alters DNA methylation in key brain regions linked to schizophrenia, namely the dopamine rich striatum and endocrine regulatory centre, the hypothalamus. DNA methylation across highly repetitive elements (long interspersed element 1 (LINE1) and intracisternal A-particles (IAPs)) were used to proxy global DNA methylation. We also investigated the Mecp2 gene because it regulates transcription of LINE1 and has a known association with neurodevelopmental disorders. Brain tissue was harvested from 6 week old offspring of mice exposed to the viral analog PolyI:C or saline on gestation day 9. We used Sequenom EpiTYPER assay to quantitatively analyze differences in DNA methylation at IAPs, LINE1 elements and the promoter region of Mecp2. In the hypothalamus, prenatal exposure to PolyI: C caused significant global DNA hypomethylation (t = 2.44, P = 0.019, PolyI: C mean 69.67%, saline mean 70.19%), especially in females, and significant hypomethylation of the promoter region of Mecp2, (t = 3.32, P = 0.002; PolyI: C mean 26.57%, saline mean 34.63%). IAP methylation was unaltered. DNA methylation in the striatum was not significantly altered. This study provides the first experimental evidence that exposure to inflammation during prenatal life is associated with epigenetic changes, including Mecp2 promoter hypomethylation. This suggests that environmental and genetic risk factors associated with neurodevelopmental disorders may act upon similar pathways. This is important because epigenetic changes are potentially modifiable and their investigation may open new avenues for treatment.
C1 [Basil, P.; Li, Q.; Sham, P-C; McAlonan, G. M.] Univ Hong Kong, Dept Psychiat, Pokfulam, Hong Kong, Peoples R China.
[Dempster, E. L.; Mill, J.] Univ Exeter, Univ Exeter Med Sch, Exeter, Devon, England.
[Mill, J.; Wong, C. C. Y.] Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London SE5 8AF, England.
[Sham, P-C] Univ Hong Kong, Ctr Genom Sci, Pokfulam, Hong Kong, Peoples R China.
[McAlonan, G. M.] Kings Coll London, Inst Psychiat, Dept Forens & Neurodev Sci, London SE5 8AF, England.
RP McAlonan, GM (reprint author), Kings Coll London, Inst Psychiat, Dept Forens & Neurodev Sci, De Crespigny Pk,Denmark Hill, London SE5 8AF, England.
EM grainne.mcalonan@kcl.ac.uk
RI Wong, Chloe/B-3679-2012
OI Wong, Chloe/0000-0003-4886-8506
FU Post Graduate Scholarship, HKU; Graduate Research Exchange Scheme,
Faculty of Medicine, HKU; Hong Kong Universities General Research Fund
[GRF_HKU 774710M]; ZEE Foundation, Hong Kong
FX We thank members of the Psychiatric Epigenetic group for Infrastructural
support for aspects of the study at Social, Genetic and Developmental
Psychiatry, Department of Forensic and Neurodevelopmental Sciences,
Kings College London and Statistical Genetics group, Department of
Psychiatry, The University of Hong Kong (HKU). PB is supported by a Post
Graduate Scholarship, HKU and the Graduate Research Exchange Scheme,
Faculty of Medicine, HKU. The experimental work was supported by Hong
Kong Universities General Research Fund award GRF_HKU 774710M. We also
acknowledge ZEE Foundation, Hong Kong for their financial support. GM is
a member of the EU-AIMS consortium.
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NR 79
TC 3
Z9 3
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD SEP
PY 2014
VL 4
AR e434
DI 10.1038/tp.2014.80
PG 7
WC Psychiatry
SC Psychiatry
GA AT3HS
UT WOS:000344827000004
PM 25180573
ER
PT J
AU Duda, M
Kosmicki, JA
Wall, DP
AF Duda, M.
Kosmicki, J. A.
Wall, D. P.
TI Testing the accuracy of an observation-based classifier for rapid
detection of autism risk (vol 4, pg e424, 2014)
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Correction
CR Duda M, 2014, TRANSL PSYCHIAT, V4, DOI 10.1038/tp.2014.65
NR 1
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD SEP
PY 2014
VL 4
AR e440
DI 10.1038/tp.2014.86
PG 1
WC Psychiatry
SC Psychiatry
GA AT3HS
UT WOS:000344827000010
ER
PT J
AU Nardone, S
Sams, DS
Reuveni, E
Getselter, D
Oron, O
Karpuj, M
Elliott, E
AF Nardone, S.
Sams, D. Sharan
Reuveni, E.
Getselter, D.
Oron, O.
Karpuj, M.
Elliott, E.
TI DNA methylation analysis of the autistic brain reveals multiple
dysregulated biological pathways
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID DE-NOVO MUTATIONS; SPECTRUM DISORDERS; ENVIRONMENTAL-FACTORS; INCREASED
PREVALENCE; SYNAPTIC FUNCTION; MICROGLIA; NEURONS; ROLES; AGE;
CONNECTIVITY
AB Autism spectrum disorders (ASD) are a group of neurodevelopmental conditions characterized by dysfunction in social interaction, communication and stereotypic behavior. Genetic and environmental factors have been implicated in the development of ASD, but the molecular mechanisms underlying their interaction are not clear. Epigenetic modifications have been suggested as molecular mechanism that can mediate the interaction between the environment and the genome to produce adaptive or maladaptive behaviors. Here, using the Illumina 450 K methylation array we have determined the existence of many dysregulated CpGs in two cortical regions, Brodmann area 10 (BA10) and Brodmann area 24 (BA24), of individuals who had ASD. In BA10 we found a very significant enrichment for genomic areas responsible for immune functions among the hypomethylated CpGs, whereas genes related to synaptic membrane were enriched among hypermethylated CpGs. By comparing our methylome data with previously published transcriptome data, and by performing real-time PCR on selected genes that were dysregulated in our study, we show that hypomethylated genes are often overexpressed, and that there is an inverse correlation between gene expression and DNA methylation within the individuals. Among these genes there were C1Q, C3, ITGB2 (C3R), TNF-alpha, IRF8 and SPI1, which have recently been implicated in synaptic pruning and microglial cell specification. Finally, we determined the epigenetic dysregulation of the gene HDAC4, and we confirm that the locus encompassing C11orf21/TSPAN32 has multiple hypomethylated CpGs in the autistic brain, as previously demonstrated. Our data suggest a possible role for epigenetic processes in the etiology of ASD.
C1 [Nardone, S.; Sams, D. Sharan; Reuveni, E.; Getselter, D.; Oron, O.; Karpuj, M.; Elliott, E.] Bar Ilan Univ, Fac Med, IL-13215 Safed, Israel.
RP Elliott, E (reprint author), Bar Ilan Univ, Fac Med, Hanrietta Sold 8, IL-13215 Safed, Israel.
EM evan.elliott@biu.ac.il
FU ISRAEL SCIENCE FOUNDATION [1047/12]; National Institute of Psychobiology
in Israel
FX We thank Dr Nili Avidan from the Genomics Core Facility of The Rappaport
Family Institute for Research in the Medical Sciences (Haifa, IL, USA)
for the preliminary analysis of the Illumina 450K methylation array. In
addition, we thank Professor Itzhak Haviv from the Bar Ilan University
Faculty of Medicine (Safed, IL, USA) for his informative discussion
which improved the quality of this work. We thank the Autism Tissue
Program, the Harvard Brain Tissue Resource Center and Oxford University
for the control and autism tissues used in this project. This research
was supported by the ISRAEL SCIENCE FOUNDATION (grant No. 1047/12) and
the National Institute of Psychobiology in Israel.
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NR 50
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PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD SEP
PY 2014
VL 4
AR e433
DI 10.1038/tp.2014.70
PG 9
WC Psychiatry
SC Psychiatry
GA AT3HS
UT WOS:000344827000003
PM 25180572
ER
PT J
AU Oksenberg, N
Haliburton, GDE
Eckalbar, WL
Oren, I
Nishizaki, S
Murphy, K
Pollard, KS
Birnbaum, RY
Ahituv, N
AF Oksenberg, N.
Haliburton, G. D. E.
Eckalbar, W. L.
Oren, I.
Nishizaki, S.
Murphy, K.
Pollard, K. S.
Birnbaum, R. Y.
Ahituv, N.
TI Genome-wide distribution of Auts2 binding localizes with active
neurodevelopmental genes
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; ACUTE LYMPHOBLASTIC-LEUKEMIA; COPY NUMBER
VARIATION; TRANSLOCATION BREAKPOINT; DEVELOPING NEOCORTEX; EXPRESSION
ANALYSIS; NEURON NUMBER; MESSENGER-RNA; ASSOCIATION; NETWORK
AB The autism susceptibility candidate 2 gene (AUTS2) has been associated with multiple neurological diseases including autism spectrum disorders (ASDs). Previous studies showed that AUTS2 has an important neurodevelopmental function and is a suspected master regulator of genes implicated in ASD-related pathways. However, the regulatory role and targets of Auts2 are not well known. Here, by using ChIP-seq (chromatin immunoprecipitation followed by deep sequencing) and RNA-seq on mouse embryonic day 16.5 forebrains, we elucidated the gene regulatory networks of Auts2. We find that the majority of promoters bound by Auts2 belong to genes highly expressed in the developing forebrain, suggesting that Auts2 is involved in transcriptional activation. Auts2 non-promoter-bound regions significantly overlap developing brain-associated enhancer marks and are located near genes involved in neurodevelopment. Auts2-marked sequences are enriched for binding site motifs of neurodevelopmental transcription factors, including Pitx3 and TCF3. In addition, we characterized two functional brain enhancers marked by Auts2 near NRXN1 and ATP2B2, both ASD-implicated genes. Our results implicate Auts2 as an active regulator of important neurodevelopmental genes and pathways and identify novel genomic regions that could be associated with ASD and other neurodevelopmental diseases.
C1 [Oksenberg, N.; Eckalbar, W. L.; Nishizaki, S.; Murphy, K.; Birnbaum, R. Y.; Ahituv, N.] Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94158 USA.
[Oksenberg, N.; Haliburton, G. D. E.; Eckalbar, W. L.; Nishizaki, S.; Murphy, K.; Pollard, K. S.; Birnbaum, R. Y.; Ahituv, N.] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94158 USA.
[Haliburton, G. D. E.; Pollard, K. S.] Gladstone Inst, San Francisco, CA USA.
[Oren, I.; Birnbaum, R. Y.] Ben Gurion Univ Negev, Dept Life Sci, IL-84105 Beer Sheva, Israel.
[Pollard, K. S.] Univ Calif San Francisco, Dept Biostat, San Francisco, CA 94158 USA.
RP Ahituv, N (reprint author), Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, 1550 4th St,Rock Hall,RH584C, San Francisco, CA 94158 USA.
EM ramonb@bgu.ac.il; nadav.ahituv@ucsf.edu
FU Simons Foundation, SFARI [256769]; National Institute of Neurological
Disorders and Stroke [1R01NS079231]; German-Israel Foundation
[I-2360-203]; Career Integration grant (CIG) [630849]; National
Institute of Diabetes and Digestive and Kidney Diseases [1R01DK090382];
National Human Genome Research Institute [R01HG005058, R01HG006768];
National Institute of Child and Human Development [R01HD059862];
National Institute of General Medical Sciences [GM61390]; NHLBI
[HL098179]; J David Gladstone Institutes
FX We would like to thank Megan Laurance for her assistance with IPA and
Mariel Mckenzie Finucane with her assistance with statistics. This work
was supported by a grant from the Simons Foundation, SFARI no. 256769,
the National Institute of Neurological Disorders and Stroke grant number
1R01NS079231 and German-Israel Foundation grant number I-2360-203. RYB
is supported in part by the Career Integration grant (CIG) number
630849. NA is also supported in part by the National Institute of
Diabetes and Digestive and Kidney Diseases grant number 1R01DK090382,
the National Human Genome Research Institute grant numbers R01HG005058
and R01HG006768, the National Institute of Child and Human Development
grant number R01HD059862, and the National Institute of General Medical
Sciences grant number GM61390. KSP and GDEH are also supported by NHLBI
grant number HL098179, a gift from the San Simeon Fund, and
institutional funds from the J David Gladstone Institutes.
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NR 92
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD SEP
PY 2014
VL 4
AR e431
DI 10.1038/tp.2014.78
PG 9
WC Psychiatry
SC Psychiatry
GA AT3HS
UT WOS:000344827000001
PM 25180570
ER
PT J
AU Polderman, TJC
Hoekstra, RA
Posthuma, D
Larsson, H
AF Polderman, T. J. C.
Hoekstra, R. A.
Posthuma, D.
Larsson, H.
TI The co-occurrence of autistic and ADHD dimensions in adults: an
etiological study in 17 770 twins
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID DEFICIT HYPERACTIVITY DISORDER; DE-NOVO MUTATIONS; SPECTRUM DISORDERS;
GENERAL-POPULATION; ENVIRONMENTAL-INFLUENCES; INHIBITORY CONTROL;
GENETIC INFLUENCES; COMMUNITY SAMPLE; SWEDISH TWIN; TRAITS
AB Autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD) often occur together. To obtain more insight in potential causes for the co-occurrence, this study examined the genetic and environmental etiology of the association between specific ASD and ADHD disorder dimensions. Self-reported data on ASD dimensions social and communication difficulties (ASDsc), and repetitive and restricted behavior and interests (ASDr), and ADHD dimensions inattention (IA), and hyperactivity/impulsivity (HI) were assessed in a community sample of 17 770 adult Swedish twins. Phenotypic, genetic and environmental associations between disorder dimensions were examined in a multivariate model, accounting for sex differences. ASDr showed the strongest associations with IA and HI in both sexes (r(p) 0.33 to 0.40). ASDsc also correlated moderately with IA (females r(p) 0.29 and males r(p) 0.35) but only modestly with HI (females r(p) 0.17 and males r(p) 0.20). Genetic correlations ranged from 0.22 to 0.64 and were strongest between ASDr and IA and HI. Sex differences were virtually absent. The ASDr dimension (reflecting restricted, repetitive and stereotyped patterns of behavior, interests and activities) showed the strongest association with dimensions of ADHD, on a phenotypic, genetic and environmental level. This study opens new avenues for molecular genetic research. As our findings demonstrated that genetic overlap between disorders is dimension-specific, future gene-finding studies on psychiatric comorbidity should focus on carefully selected genetically related dimensions of disorders.
C1 [Polderman, T. J. C.; Posthuma, D.] Vrije Univ Amsterdam, Ctr Neurogen & Cognit Res, Dept Funct Genom, NL-1081 HV Amsterdam, Netherlands.
[Hoekstra, R. A.] Open Univ, Fac Sci, Dept Life Hlth & Chem Sci, Milton Keynes MK7 6AA, Bucks, England.
[Posthuma, D.] Vrije Univ Amsterdam Med Ctr, Dept Complex Trait Genet, Amsterdam, Netherlands.
[Larsson, H.] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
RP Polderman, TJC (reprint author), Vrije Univ Amsterdam, Ctr Neurogen & Cognit Res, Neurosci Campus Amsterdam,De Boelelaan 1085, NL-1081 HV Amsterdam, Netherlands.
EM tinca.polderman@vu.nl
FU Netherlands Organization for Scientific research (NWO Brain Cognition)
[433-09-228]; Neuroscience Campus Amsterdam; Swedish research council
FX We thank the participants of STAGE. TJCP and DP would like to
acknowledge financial support from the Netherlands Organization for
Scientific research (NWO Brain & Cognition: 433-09-228), and the
Neuroscience Campus Amsterdam. HL would like to acknowledge financial
support from the Swedish research council.
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NR 62
TC 1
Z9 1
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD SEP
PY 2014
VL 4
AR e435
DI 10.1038/tp.2014.84
PG 7
WC Psychiatry
SC Psychiatry
GA AT3HS
UT WOS:000344827000005
PM 25180574
ER
PT J
AU Natsubori, T
Inoue, H
Abe, O
Takano, Y
Iwashiro, N
Aoki, Y
Koike, S
Yahata, N
Katsura, M
Gonoi, W
Sasaki, H
Takao, H
Kasai, K
Yamasue, H
AF Natsubori, Tatsunobu
Inoue, Hideyuki
Abe, Osamu
Takano, Yosuke
Iwashiro, Norichika
Aoki, Yuta
Koike, Shinsuke
Yahata, Noriaki
Katsura, Masaki
Gonoi, Wataru
Sasaki, Hiroki
Takao, Hidemasa
Kasai, Kiyoto
Yamasue, Hidenori
TI Reduced Frontal Glutamate plus Glutamine and N-Acetylaspartate Levels in
Patients With Chronic Schizophrenia but not in Those at Clinical High
Risk for Psychosis or With First-Episode Schizophrenia
SO SCHIZOPHRENIA BULLETIN
LA English
DT Article
DE anterior cingulate cortex; at-risk mental state; biomarkers; frontal
lobe; magnetic resonance imaging; neurochemical abnormality
ID MAGNETIC-RESONANCE-SPECTROSCOPY; GRAY-MATTER VOLUME; AUTISM SPECTRUM
DISORDERS; CHILDHOOD-ONSET SCHIZOPHRENIA; ANTERIOR CINGULATE CORTEX;
NMDA RECEPTOR SUBUNITS; TWIN PAIRS DISCORDANT; H-1 MR SPECTROSCOPY;
PREFRONTAL CORTEX; TEMPORAL-LOBE
AB Changes in brain pathology as schizophrenia progresses have been repeatedly suggested by previous studies. Meta-analyses of previous proton magnetic resonance spectroscopy (H-1 MRS) studies at each clinical stage of schizophrenia indicate that the abnormalities of N-acetylaspartate (NAA) and glutamatergic metabolites change progressively. However, to our knowledge, no single study has addressed the possible differences in 1H MRS abnormalities in subjects at 3 different stages of disease, including those at ultrahigh risk for psychosis (UHR), with first-episode schizophrenia (FES), and with chronic schizophrenia (ChSz). In the current study, 24 patients with UHR, 19 FES, 25 ChSz, and their demographically matched 3 independent control groups (n = 26/19/28 for the UHR, FES, and ChSz control groups, respectively) underwent 1H MRS in a 3-Tesla scanner to examine metabolites in medial prefrontal cortex. The analysis revealed significant decreases in the medial prefrontal NAA and glutamate + glutamine (Glx) levels, specifically in the ChSz group as indexed by a significant interaction between stage (UHR/FES/ChSz) and clinical status (patients/controls) (P = .008). Furthermore, the specificity of NAA and Glx reductions compared with the other metabolites in the patients with ChSz was also supported by a significant interaction between the clinical status and types of metabolites that only occurred at the ChSz stage (P = .001 for NAA, P = .004 for Glx). The present study demonstrates significant differences in 1H MRS abnormalities at different stages of schizophrenia, which potentially correspond to changes in glutamatergic neurotransmission, plasticity, and/or excitotoxicity and regional neuronal integrity with relevance for the progression of schizophrenia.
C1 [Natsubori, Tatsunobu; Inoue, Hideyuki; Takano, Yosuke; Iwashiro, Norichika; Aoki, Yuta; Koike, Shinsuke; Yahata, Noriaki; Kasai, Kiyoto; Yamasue, Hidenori] Univ Tokyo, Grad Sch Med, Dept Neuropsychiat, Tokyo 1138655, Japan.
[Abe, Osamu; Katsura, Masaki; Gonoi, Wataru; Sasaki, Hiroki; Takao, Hidemasa] Univ Tokyo, Grad Sch Med, Dept Radiol, Tokyo 1138655, Japan.
[Abe, Osamu] Nihon Univ, Sch Med, Dept Radiol, Tokyo, Japan.
RP Yamasue, H (reprint author), Univ Tokyo, Grad Sch Med, Dept Neuropsychiat, Bunkyo Ku, 7-3-1 Hongo, Tokyo 1138655, Japan.
EM yamasue-tky@umin.ac.jp
FU Ministry of Education, Culture, Sports, Science and Technology (MEXT);
KAKENHI [22689034, 20591378, 21249064]; Global Center of Excellence
(COE) Program "Comprehensive Center of Education and Research for
Chemical Biology of the Diseases"; Health and Labour Sciences Research
Grants for Comprehensive Research on Disability, Health and Welfare
[H22-seishin-ippan-015]
FX "Development of biomarker candidates for social behavior" project
carried out under the Strategic Research Program for Brain Sciences by
the Ministry of Education, Culture, Sports, Science and Technology
(MEXT); KAKENHI (22689034 to H.Y., 20591378 to N.Y., 21249064 to K. K.);
Global Center of Excellence (COE) Program "Comprehensive Center of
Education and Research for Chemical Biology of the Diseases" (to N.Y.);
Health and Labour Sciences Research Grants for Comprehensive Research on
Disability, Health and Welfare (H22-seishin-ippan-015 to K.K.).
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NR 85
TC 6
Z9 7
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0586-7614
EI 1745-1701
J9 SCHIZOPHRENIA BULL
JI Schizophr. Bull.
PD SEP
PY 2014
VL 40
IS 5
BP 1128
EP 1139
DI 10.1093/schbul/sbt124
PG 12
WC Psychiatry
SC Psychiatry
GA AT0ET
UT WOS:000344610800023
PM 24023251
ER
PT J
AU LaGasse, AB
AF LaGasse, A. Blythe
TI Effects of a Music Therapy Group Intervention on Enhancing Social Skills
in Children with Autism
SO JOURNAL OF MUSIC THERAPY
LA English
DT Article
DE autism spectrum disorder; group intervention; music therapy; social
skills
ID SPECTRUM DISORDERS; RESPONSIVENESS; BEHAVIORS; PROFILE; SPEECH; ADULTS;
SONG
AB Background: Research indicates that music therapy can improve social behaviors and joint attention in children with Autism Spectrum Disorder (ASD); however, more research on the use of music therapy interventions for social skills is needed to determine the impact of group music therapy.
Objective: To examine the effects of a music therapy group intervention on eye gaze, joint attention, and communication in children with ASD.
Method: Seventeen children, ages 6 to 9, with a diagnosis of ASD were randomly assigned to the music therapy group (MTG) or the no-music social skills group (SSG). Children participated in ten 50-minute group sessions over a period of 5 weeks. All group sessions were designed to target social skills. The Social Responsiveness Scale (SRS), the Autism Treatment Evaluation Checklist (ATEC), and video analysis of sessions were used to evaluate changes in social behavior.
Results: There were significant between-group differences for joint attention with peers and eye gaze towards persons, with participants in the MTG demonstrating greater gains. There were no significant between-group differences for initiation of communication, response to communication, or social withdraw/behaviors. There was a significant interaction between time and group for SRS scores, with improvements for the MTG but not the SSG. Scores on the ATEC did not differ over time between the MTG and SSG.
Conclusions: The results of this study support further research on the use of music therapy group interventions for social skills in children with ASD. Statistical results demonstrate initial support for the use of music therapy social groups to develop joint attention.
C1 [LaGasse, A. Blythe] Colorado State Univ, Ft Collins, CO 80523 USA.
RP LaGasse, AB (reprint author), 1778 Campus Delivery, Ft Collins, CO 80524 USA.
EM blagasse@colostate.edu
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NR 47
TC 0
Z9 0
PU OXFORD UNIV PRESS INC
PI CARY
PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA
SN 0022-2917
EI 2053-7395
J9 J MUSIC THER
JI J. Music Ther.
PD FAL
PY 2014
VL 51
IS 3
BP 250
EP 275
DI 10.1093/jmt/thu012
PG 26
WC Music; Rehabilitation
SC Music; Rehabilitation
GA AS3KU
UT WOS:000344177300004
PM 25053766
ER
PT J
AU Anitha, A
Thanseem, I
Nakamura, K
Vasu, MM
Yamada, K
Ueki, T
Iwayama, Y
Toyota, T
Tsuchiya, KJ
Iwata, Y
Suzuki, K
Sugiyama, T
Tsujii, M
Yoshikawa, T
Mori, N
AF Anitha, Ayyappan
Thanseem, Ismail
Nakamura, Kazuhiko
Vasu, Mahesh M.
Yamada, Kazuo
Ueki, Takatoshi
Iwayama, Yoshimi
Toyota, Tomoko
Tsuchiya, Kenji J.
Iwata, Yasuhide
Suzuki, Katsuaki
Sugiyama, Toshiro
Tsujii, Masatsugu
Yoshikawa, Takeo
Mori, Norio
TI Zinc finger protein 804A (ZNF804A) and verbal deficits in individuals
with autism
SO JOURNAL OF PSYCHIATRY & NEUROSCIENCE
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; ANTERIOR CINGULATE CORTEX;
HIGH-FUNCTIONING AUTISM; RISK GENE; SCHIZOPHRENIA-PATIENTS; SPECTRUM
DISORDERS; PSYCHOSIS VARIANT; SOCIAL COGNITION; REVISED VERSION;
WORKING-MEMORY
AB Background: In a genome-wide association study of autism, zinc finger protein 804A (ZNF804A) single nucleotide polymorphisms (SNPs) were found to be nominally associated in verbally deficient individuals with autism. Zinc finger protein 804A copy number variations (CNVs) have also been observed in individuals with autism. In addition, ZNF804A is known to be involved in theory of mind (ToM) tasks, and ToM deficits are deemed responsible for the communication and social challenges faced by individuals with autism. We hypothesized that ZNF804A could be a risk gene for autism. Methods: We examined the genetic association and CNVs of ZNF804A in 841 families in which 1 or more members had autism. We compared the expression of ZNF804A in the postmortem brains of individuals with autism (n = 8) and controls (n = 13). We also assessed in vitro the effect of ZNF804A silencing on the expression of several genes known to be involved in verbal efficiency and social cognition. Results: We found that rs7603001 was nominally associated with autism (p = 0.018). The association was stronger (p = 0.008) in the families of individuals with autism who were verbally deficient (n = 761 families). We observed ZNF804A CNVs in 7 verbally deficient boys with autism. In ZNF804A knockdown cells, the expression of synaptosomal-associated protein, 25kDa (SNAP25) was reduced compared with controls (p = 0.009). The expression of ZNF804A (p = 0.009) and SNAP25 (p = 0.009) were reduced in the anterior cingulate gyrus (ACG) of individuals with autism. There was a strong positive correlation between the expression of ZNF804A and SNAP25 in the ACG (p < 0.001). Limitations: Study limitations include our small sample size of postmortem brains. Conclusion: Our results suggest that ZNF804A could be a potential candidate gene mediating the intermediate phenotypes associated with verbal traits in individuals with autism.
C1 [Anitha, Ayyappan; Tsuchiya, Kenji J.; Tsujii, Masatsugu; Mori, Norio] Hamamatsu Univ Sch Med, Res Ctr Child Mental Dev, Hamamatsu, Shizuoka 4313192, Japan.
[Thanseem, Ismail; Vasu, Mahesh M.; Iwata, Yasuhide; Suzuki, Katsuaki; Mori, Norio] Hamamatsu Univ Sch Med, Dept Psychiat, Hamamatsu, Shizuoka 4313192, Japan.
[Nakamura, Kazuhiko] Hirosaki Univ, Sch Med, Dept Psychiat, Hirosaki, Aomori 036, Japan.
[Yamada, Kazuo; Iwayama, Yoshimi; Toyota, Tomoko; Yoshikawa, Takeo] RIKEN Brain Sci Inst, Lab Mol Psychiat, Wako, Saitama, Japan.
[Ueki, Takatoshi] Hamamatsu Univ Sch Med, Dept Anat, Hamamatsu, Shizuoka 4313192, Japan.
[Sugiyama, Toshiro] Hamamatsu Univ Sch Med, Dept Child & Adolescent Psychiat, Hamamatsu, Shizuoka 4313192, Japan.
[Tsujii, Masatsugu] Chukyo Univ, Fac Sociol, Toyota, Japan.
RP Nakamura, K (reprint author), Hirosaki Univ, Sch Med, Dept Psychiat, 5 Zaifu Cho, Hirosaki, Aomori 0368562, Japan.
EM nakakazu@cc.hirosaki-u.ac.jp
FU National Institute of Mental Health [1U24MH081810]; PHS grant [R24 MH
068855]; Ministry of Education, Culture, Sports, Science, and
Technology, Japan; Takeda Science Foundation, Japan; Strategic Research
Program for Brain Sciences (Integrated research on neuropsychiatric
disorders)
FX We gratefully acknowledge the resources provided by the AGRE Consortium
and the participating AGRE families. The AGRE is a program of Autism
Speaks and is supported in part by grant 1U24MH081810 from the National
Institute of Mental Health to Clara M. Lajonchere (P.I.). We thank Dr.
Jane Pickett, Director of Brain Resources and Data, ATP, for
facilitating brain tissue collection. Human tissue was obtained from the
NICHD BTB for Developmental Disorders at the University of Maryland.
Tissue samples were also provided by the Harvard Brain Tissue Resource
Center, which is supported in part by PHS grant number R24 MH 068855.
This work was supported by Grants-in-Aid for Scientific Research from
the Ministry of Education, Culture, Sports, Science, and Technology,
Japan (A.A., K.N.), the Takeda Science Foundation, Japan (K.S.), and
partly by the Strategic Research Program for Brain Sciences (Integrated
research on neuropsychiatric disorders). We thank Tae Takahashi and Mika
Oyaizu for technical assistance.
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NR 55
TC 0
Z9 0
PU CMA-CANADIAN MEDICAL ASSOC
PI OTTAWA
PA 1867 ALTA VISTA DR, OTTAWA, ONTARIO K1G 5W8, CANADA
SN 1180-4882
EI 1488-2434
J9 J PSYCHIATR NEUROSCI
JI J. Psychiatry Neurosci.
PD SEP
PY 2014
VL 39
IS 5
BP 294
EP 303
DI 10.1503/jpn.130126
PG 10
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AS9PJ
UT WOS:000344574000003
PM 24866414
ER
PT J
AU Valles, A
Martens, GJM
De Weerd, P
Poelmans, G
Aschrafi, A
AF Valles, Astrid
Martens, Gerard J. M.
De Weerd, Peter
Poelmans, Geert
Aschrafi, Armaz
TI MicroRNA-137 regulates a glucocorticoid receptor-dependent signalling
network: implications for the etiology of schizophrenia
SO JOURNAL OF PSYCHIATRY & NEUROSCIENCE
LA English
DT Article
ID DORSOLATERAL PREFRONTAL CORTEX; AUTISM SPECTRUM DISORDERS;
ALZHEIMERS-DISEASE; MOUSE MODEL; ENVIRONMENTAL ENRICHMENT; SYNAPTIC
PLASTICITY; INTELLECTUAL DISABILITY; TARGET PREDICTION; AMYLOID-BETA;
EXPRESSION
AB Background: Schizophrenia is a highly heritable neurodevelopmental disorder. A genetic variant of microRNA-137 (miR-137) has yielded significant genome-wide association with schizophrenia, suggesting that this miRNA plays a key role in its etiology. Therefore, a molecular network of interacting miR-137 targets may provide insights into the biological processes underlying schizophrenia. Methods: We first used bioinformatics tools to obtain and analyze predicted human and mouse miR-137 targets. We then determined miR-137 levels in rat barrel cortex after environmental enrichment (EE), a neuronal plasticity model that induces upregulation of several predicted miR-137 targets. Subsequently, expression changes of these predicted targets were examined through loss of miR-137 function experiments in rat cortical neurons. Finally, we conducted bioinformatics and literature analyses to examine the targets that were upregulated upon miR-137 downregulation. Results: Predicted human and mouse miR-137 targets were enriched in neuronal processes, such as axon guidance, neuritogenesis and neurotransmission. The miR-137 levels were significantly downregulated after EE, and we identified 5 novel miR-137 targets through loss of miR-137 function experiments. These targets fit into a glucocorticoid receptor-dependent signalling network that also includes 3 known miR-137 targets with genome-wide significant association with schizophrenia. Limitations: The bioinformatics analyses involved predicted human and mouse miR-137 targets owing to lack of information on predicted rat miR-137 targets, whereas follow-up experiments were performed with rats. Furthermore, indirect effects in the loss of miR-137 function experiments cannot be excluded. Conclusion: We have identified a miR-137-regulated protein network that contributes to our understanding of the molecular basis of schizophrenia and provides clues for future research into psychopharmacological treatments for schizophrenia.
C1 [Valles, Astrid; De Weerd, Peter] Maastricht Univ, Fac Psychol & Neurosci, Dept Neurocognit, Maastricht, Netherlands.
[Valles, Astrid; Martens, Gerard J. M.; Poelmans, Geert] Radboud Univ Nijmegen, NCMLS, Dept Mol Anim Physiol, Donders Inst Brain Cognit & Behav, NL-6525 AJ Nijmegen, Netherlands.
[De Weerd, Peter; Poelmans, Geert; Aschrafi, Armaz] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Cognit Neurosci, Nijmegen, Netherlands.
[Poelmans, Geert] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands.
[Aschrafi, Armaz] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Neuroinformat, NL-6525 AJ Nijmegen, Netherlands.
RP Aschrafi, A (reprint author), Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Neuroinformat, Heyendaalseweg 135, NL-6525 AJ Nijmegen, Netherlands.
EM a.aschrafi@donders.ru.nl
RI Martens, Gerard/D-1925-2010
FU VICI grant from the Netherlands Foundation of Scientific Research (NWO)
[453_04_002]; Dutch Top Institute Pharma grant [T5-209]; Donders Center
for Neuroscience fellowship award of the Radboud University Nijmegen
Medical Centre; FP7-Marie Curie International Reintegration Grant
FX We thank Laurens Kirkels, Mahshid Gazorpak, Aron Kos and Nikkie Olde
Loohuis for technical assistance. This work was supported by VICI grant
453_04_002 from the Netherlands Foundation of Scientific Research (NWO)
to P. De Weerd, a Dutch Top Institute Pharma grant (T5-209) to G.J.M
Martens, and the Donders Center for Neuroscience fellowship award of the
Radboud University Nijmegen Medical Centre and the FP7-Marie Curie
International Reintegration Grant to A. Aschrafi.
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NR 72
TC 0
Z9 0
PU CMA-CANADIAN MEDICAL ASSOC
PI OTTAWA
PA 1867 ALTA VISTA DR, OTTAWA, ONTARIO K1G 5W8, CANADA
SN 1180-4882
EI 1488-2434
J9 J PSYCHIATR NEUROSCI
JI J. Psychiatry Neurosci.
PD SEP
PY 2014
VL 39
IS 5
BP 312
EP 320
DI 10.1503/jpn.130269
PG 9
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AS9PJ
UT WOS:000344574000005
PM 24866554
ER
PT J
AU Buha, N
Gligorovic, M
Maksic, J
AF Buha, Natasa
Gligorovic, Milica
Maksic, Jasmina
TI Challenging Behavior: Behavioral Phenotypes of Some Genetic Syndromes
SO SRPSKI ARHIV ZA CELOKUPNO LEKARSTVO
LA Serbian
DT Review
DE genetic syndromes; mental retardation; behavioral phenotype; challenging
behavior
ID PRADER-WILLI-SYNDROME; FRAGILE-X-SYNDROME; ANGELMAN-SYNDROME;
PSYCHIATRIC-DISORDERS; MENTAL-RETARDATION; DOWNS-SYNDROME; CHILDREN;
MALES; AUTISM
AB Challenging behavior in individuals with mental retardation (MR) is relatively frequent, and represents a significant obstacle to adaptive skills. The frequency of specific forms and manifestations of challenging behavior can depend on a variety of personal and environmental factors. There are several prominent theoretical models regarding the etiology of challenging behavior and psychopathology in persons with MR: behavioral, developmental, socio-cultural and biological. The biological model emphasizes the physiological, biochemical and genetic factors as the potential source of challenging behavior. The progress in the field of genetics and neuroscience has opened the opportunity to study and discover the neurobiological basis of phenotypic characteristics. Genetic syndromes associated with MR can be followed by a specific set of problems and disorders which constitutes their behavioral phenotype. The aim of this paper was to present challenging behaviors that manifest in the most frequently studied syndromes: Down syndrome, Fragile X syndrome, Williams syndrome, Prader-Willi syndrome and Angelman syndrome. The concept of behavioral phenotype implies a higher probability of manifesting specific developmental characteristics and specific behaviors in individuals with a certain genetic syndrome. Although the specific set of (possible) problems and disorders is distinctive for the described genetic syndromes, the connection between genetics and behavior should be viewed through probabilistic dimension. The probabilistic concept takes into consideration the possibility of intra-syndrome variability in the occurrence, intensity and time onset of behavioral characteristics, at which the higher variability the lower is the specificity of the genetic syndrome. Identifying the specific pattern of behavior can be most important for the process of early diagnosis and prognosis. In addition, having knowledge about behavioral phenotype can be a landmark in the creation of targeted treatment strategies for individuals with a specific genetic syndrome.
C1 [Buha, Natasa; Gligorovic, Milica; Maksic, Jasmina] Univ Belgrade, Fac Special Educ & Rehabil, Belgrade, Serbia.
RP Maksic, J (reprint author), Fak Specijalnu Edukaaju & Rehabil, Visokog Stevana 2, Belgrade 11000, Serbia.
EM maxic164@eunet.rs
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NR 48
TC 0
Z9 0
PU SRPSKO LEKARSKO DRUSTVO
PI BEOGRAD
PA UREDNISTVO CASOPISA SRPSKI ARHIV, UL DZORDZA VASINGTONA 19, BEOGRAD,
11000, SERBIA
SN 0370-8179
J9 SRP ARK CELOK LEK
JI Srp. Ark. Celok. Lek.
PD SEP-OCT
PY 2014
VL 142
IS 9-10
BP 621
EP 627
DI 10.2298/SARH1410621B
PG 7
WC Medicine, General & Internal
SC General & Internal Medicine
GA AS5JH
UT WOS:000344306900019
ER
PT J
AU Eyal, G
Fitzgerald, D
Gillis-Buck, E
Hart, B
Lappe, MD
Navon, D
Richardson, SS
AF Eyal, Gil
Fitzgerald, Des
Gillis-Buck, Eva
Hart, Brendan
Lappe, Martine D.
Navon, Daniel
Richardson, Sarah S.
TI New modes of understanding and acting on human difference in autism
research, advocacy and care: Introduction to a Special Issue of
BioSocieties Introduction
SO BIOSOCIETIES
LA English
DT Editorial Material
DE autism; geneticization; looping; biosociality
AB The papers collected in this special issue examine specific instances of autism research, treatment and advocacy. Their shared aim is to explore not the causes, but the manifold biosocial consequences and theoretical implications of the recent expansion of the autism spectrum. Three such implications are singled out in the introduction as common threads running through all the papers. First, the extent to which developments in the field of autism research, treatment and advocacy pose a challenge to theories of 'biomedicalization' and 'geneticization'. Second, the intimate connection between autism's recalcitrance to be pinned down and explained and its enormous biosocial productivity. Third, the need to broaden Hacking's (1998, 2006) concept of 'looping' to make sense of the 'moving target' that is autism.
C1 [Eyal, Gil] Columbia Univ, Dept Sociol, New York, NY 10027 USA.
[Fitzgerald, Des] Kings Coll London, Dept Social Sci Hlth & Med, London WC2R 2LS, England.
[Gillis-Buck, Eva] UCSF Sch Med, San Francisco, CA 94117 USA.
[Hart, Brendan] Columbia Univ, Dept Sociomed Sci, New York, NY 10027 USA.
[Lappe, Martine D.] Univ Calif Los Angeles, Inst Soc & Genet, Los Angeles, CA 90095 USA.
[Navon, Daniel] Harvard Univ, Cambridge, MA 02138 USA.
[Richardson, Sarah S.] Harvard Univ, Ctr Sci, Dept Hist Sci, Cambridge, MA 02138 USA.
[Richardson, Sarah S.] Harvard Univ, Ctr Sci, Studies Women Gender & Sexual Program, Cambridge, MA 02138 USA.
RP Eyal, G (reprint author), Columbia Univ, Dept Sociol, MC9649,606 W 122nd St, New York, NY 10027 USA.
EM ge2027@gmail.com; dnavon@rwj.harvard.edu
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NR 27
TC 1
Z9 1
PU PALGRAVE MACMILLAN LTD
PI BASINGSTOKE
PA BRUNEL RD BLDG, HOUNDMILLS, BASINGSTOKE RG21 6XS, HANTS, ENGLAND
SN 1745-8552
EI 1745-8560
J9 BIOSOCIETIES
JI BioSocieties
PD SEP
PY 2014
VL 9
IS 3
SI SI
BP 233
EP 240
DI 10.1057/biosoc.2014.19
PG 8
WC Social Sciences, Biomedical
SC Biomedical Social Sciences
GA AS4CU
UT WOS:000344221800001
ER
PT J
AU Fitzgerald, D
AF Fitzgerald, Des
TI The trouble with brain imaging: Hope, uncertainty and ambivalence in the
neuroscience of autism
SO BIOSOCIETIES
LA English
DT Article
DE autism; neuroscience; expectations; hope; ambivalence
ID SPECTRUM DISORDERS; EXPECTATIONS; GENETICS; SCIENCE; CLASSIFICATION;
GENETICIZATION; NEUROPOLITICS; SOCIOLOGY; KNOWLEDGE; FUTURES
AB This article is about ambivalent dynamics of hope and uncertainty within neurobiological autism research. While much literature has commented on the positive hopes and expectations that surround technoscientific projects, fewer have focused on less promissory visions - and, in particular, on the presence of uncertainty and ambiguity among working scientists. This article shows how autism neuroscientists actually talk about their research in ambivalent, entangled registers of both promising hope and deflated uncertainty. The article locates the dynamic between these in an 'intermediate terrain' of autism research - in which autism is both 'present' as an epidemiological and social force, but also 'ambiguous' as a (not yet) well-defined clinical and scientific object. It argues that neuroscientists work through this terrain by drawing not only on a discourse of unalloyed hope and promise, but by entangling their research within a more complex register of 'structured ambivalence', which includes languages of uncertainty, deflation and low expectation. As well as showing the novelty of research within autism's 'intermediate terrain', this adds to a growing literature on the 'sociology of low expectations', and analyses the presence of such feelings among scientific researchers particularly.
C1 Kings Coll London, Dept Social Sci Hlth & Med, London, England.
RP Fitzgerald, D (reprint author), Kings Coll London, Dept Social Sci Hlth & Med, D11 East Wing,Strand Campus, London, England.
EM des.fitzgerald@kcl.ac.uk
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NR 65
TC 0
Z9 0
PU PALGRAVE MACMILLAN LTD
PI BASINGSTOKE
PA BRUNEL RD BLDG, HOUNDMILLS, BASINGSTOKE RG21 6XS, HANTS, ENGLAND
SN 1745-8552
EI 1745-8560
J9 BIOSOCIETIES
JI BioSocieties
PD SEP
PY 2014
VL 9
IS 3
SI SI
BP 241
EP 261
DI 10.1057/biosoc.2014.15
PG 21
WC Social Sciences, Biomedical
SC Biomedical Social Sciences
GA AS4CU
UT WOS:000344221800002
ER
PT J
AU Gillis-Buck, EM
Richardson, SS
AF Gillis-Buck, Eva M.
Richardson, Sarah S.
TI Autism as a biomedical platform for sex differences research
SO BIOSOCIETIES
LA English
DT Article
DE autism; Asperger's Syndrome; biomedical platform; gender; sex
differences; translational research
ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; ASPERGERS-SYNDROME; SAVANT
SYNDROME; GENDER; BRAIN; MATH; EPIDEMIOLOGY; STEREOTYPES; PERFORMANCE
AB Autism has become a 'biomedical platform' for sex differences research in fields such as genetics, endocrinology and neuroscience. Increasingly, researchers in these fields pose the male prevalence of autism as a model for investigating sex differences in the brain, and offer basic research on sex differences in the brain as a resource for understanding the etiology of autism. The use of autism as a biomedical platform for sex differences research obscures empirical and interpretive contestations surrounding claims about the male prevalence of autism. We argue that the uncritical use of this research platform across many fields stands to distort scientific research on autism and contribute to harmful gender stereotypes.
C1 [Richardson, Sarah S.] Harvard Univ, Dept Hist Sci, Cambridge, MA 02138 USA.
[Gillis-Buck, Eva M.] Univ Calif San Francisco, Sch Med, San Francisco, CA 94143 USA.
RP Richardson, SS (reprint author), Harvard Univ, Dept Hist Sci, Sci Ctr 371, Cambridge, MA 02138 USA.
EM gillisbuckem@gmail.com; srichard@fas.harvard.edu
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NR 104
TC 0
Z9 0
PU PALGRAVE MACMILLAN LTD
PI BASINGSTOKE
PA BRUNEL RD BLDG, HOUNDMILLS, BASINGSTOKE RG21 6XS, HANTS, ENGLAND
SN 1745-8552
EI 1745-8560
J9 BIOSOCIETIES
JI BioSocieties
PD SEP
PY 2014
VL 9
IS 3
SI SI
BP 262
EP 283
DI 10.1057/biosoc.2014.17
PG 22
WC Social Sciences, Biomedical
SC Biomedical Social Sciences
GA AS4CU
UT WOS:000344221800003
ER
PT J
AU Hart, B
AF Hart, Brendan
TI Autism parents & neurodiversity: Radical translation, joint embodiment
and the prosthetic environment
SO BIOSOCIETIES
LA English
DT Article
DE autism; looping; classifications; disability; patient advocacy
ID CHILDREN; DISABILITY; SPECTRUM; SERVICES; KINSHIP; GENDER
AB It has become increasingly common to view and discuss autism as a form of difference, rather than a disorder. Moreover, the autism spectrum has generated new possibilities for personhood and social inclusion. These developments have typically been ascribed to the recent work of autistic autobiographers and autistic self-advocates associated with the neurodiversity movement, who are providing a sort of linguistic infrastructure to support autistic personhood. Drawing on historical and ethnographic research, this article makes the complementary and analogous claim that parents of autistic children have used autism therapies to create a technical infrastructure to support autistic personhood. The article follows an earlier genealogical thread to argue that parents have used the techniques and technologies of behavioral therapies (sometimes said to be incommensurable with neurodiversity's philosophy) in ways that have actually helped establish this autism-as-difference view. They have done so by translating their child's behaviors and utterances and engaging in forms of 'joint embodiment' with her to create enabling 'prosthetic environments' where her unique personhood can be recognized. Through an ethnographic focus on 'prosaic technologies' and the politics of everyday practice, the article also provides a thicker and more grounded account of what Ian Hacking calls the "looping effect of human kinds".
C1 [Hart, Brendan] Columbia Univ, Dept Sociomed Sci, New York, NY 10027 USA.
RP Hart, B (reprint author), Columbia Univ, Dept Sociomed Sci, 5th Floor,722 W 168th St, New York, NY 10027 USA.
EM bgh2105@columbia.edu
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NR 93
TC 2
Z9 2
PU PALGRAVE MACMILLAN LTD
PI BASINGSTOKE
PA BRUNEL RD BLDG, HOUNDMILLS, BASINGSTOKE RG21 6XS, HANTS, ENGLAND
SN 1745-8552
EI 1745-8560
J9 BIOSOCIETIES
JI BioSocieties
PD SEP
PY 2014
VL 9
IS 3
SI SI
BP 284
EP 303
DI 10.1057/biosoc.2014.20
PG 20
WC Social Sciences, Biomedical
SC Biomedical Social Sciences
GA AS4CU
UT WOS:000344221800004
ER
PT J
AU Lappe, MD
AF Lappe, Martine D.
TI Taking care: Anticipation, extraction and the politics of temporality in
autism science
SO BIOSOCIETIES
LA English
DT Article
DE autism; research; care; ethics; participation; science
ID REPRODUCTIVE WORK; CLINICAL-TRIALS; MOTHER-BLAME; PERSPECTIVE;
ENVIRONMENT; DISABILITY; LIFE; BIOMEDICINE; EXPERIENCE; EMERGENCE
AB Research on autism has increased significantly over the past several decades. This upsurge parallels the steep rise in autism diagnoses. Together, these conditions have increased the number of people occupying the social role of research participants, including investigators, analysts and subjects. Simultaneously, addressing scientific questions about autism now involves new research efforts including prospective enriched-risk cohort studies exploring the environmental and genetic causes of autism during pregnancy and early child development. Rather than one-time donations, these studies require extended commitments on the part of all those involved in the research. This article draws on ethnographic observations of research practices and interviews with investigators, study staff and participants to examine the emergent relationships between research and care in this area of autism science. I introduce the notion of 'taking care' to describe the forms of anticipatory labor and mutual extraction involved in longitudinal research. Through tracing three modes of taking care across practices of study design, data collection and participation, I argue that research and care become intimately intertwined and mutually constructed during the research process. These findings reflect how processes of taking and giving are constitutive of research participation for all those engaged in the research enterprise. This article considers the relationships between these practices and new forms of community and sociality related to biomedical science.
C1 Univ Calif Los Angeles, Inst Soc & Genet, Los Angeles, CA 90095 USA.
RP Lappe, MD (reprint author), Univ Calif Los Angeles, Inst Soc & Genet, Box 957221,1320 Rolfe Hall, Los Angeles, CA 90095 USA.
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NR 109
TC 1
Z9 1
PU PALGRAVE MACMILLAN LTD
PI BASINGSTOKE
PA BRUNEL RD BLDG, HOUNDMILLS, BASINGSTOKE RG21 6XS, HANTS, ENGLAND
SN 1745-8552
EI 1745-8560
J9 BIOSOCIETIES
JI BioSocieties
PD SEP
PY 2014
VL 9
IS 3
SI SI
BP 304
EP 328
DI 10.1057/biosoc.2014.14
PG 25
WC Social Sciences, Biomedical
SC Biomedical Social Sciences
GA AS4CU
UT WOS:000344221800005
ER
PT J
AU Navon, D
Eyal, G
AF Navon, Daniel
Eyal, Gil
TI The trading zone of autism genetics: Examining the intersection of
genomic and psychiatric classification
SO BIOSOCIETIES
LA English
DT Article
DE autism; genetics; trading zone; genomic designation; looping;
Phelan-McDermid Syndrome
ID FRAGILE-X-SYNDROME; 22Q13 DELETION SYNDROME; EARLY INFANTILE-AUTISM;
DEVELOPMENTAL PSYCHOPATHOLOGY; TRANSLATIONAL RESEARCH; CHILDHOOD AUTISM;
CYSTIC-FIBROSIS; GENETICIZATION; DISORDERS; MICRODELETION
AB This article argues that the impact of genetics on psychiatry, and on our understanding of human difference more generally, will be mediated by the threefold social role of diagnostic categories as (i) coordinating devices; (ii) identities; (iii) sites of looping processes. This argument is explored by examining the intersection of a rare genetic disorder - 22q13 Deletion/Phelan-McDermid Syndrome (PMS) - with the much broader but genetically heterogeneous category of autism. We show that a 'genomically designated' classification such as PMS thrives as an object of research and social mobilization by virtue of its capacity to interface with, rather than supplant, the existing psychiatric diagnosis of autism. Autism genetics thus functions as a 'trading zone' (Galison, 1997) that allows for the exchange of knowledge, biomedical objects and resources despite incommensurable ends and frameworks of understanding.
C1 [Navon, Daniel] Harvard Univ, Cambridge, MA 02138 USA.
[Eyal, Gil] Columbia Univ, Dept Sociol, New York, NY 10027 USA.
RP Navon, D (reprint author), Harvard Univ, 1730 Cambridge St,S410, Cambridge, MA 02138 USA.
EM dnavon@rwj.harvard.edu; ge2027@columbia.edu
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NR 109
TC 0
Z9 0
PU PALGRAVE MACMILLAN LTD
PI BASINGSTOKE
PA BRUNEL RD BLDG, HOUNDMILLS, BASINGSTOKE RG21 6XS, HANTS, ENGLAND
SN 1745-8552
EI 1745-8560
J9 BIOSOCIETIES
JI BioSocieties
PD SEP
PY 2014
VL 9
IS 3
SI SI
BP 329
EP 352
DI 10.1057/biosoc.2014.18
PG 24
WC Social Sciences, Biomedical
SC Biomedical Social Sciences
GA AS4CU
UT WOS:000344221800006
ER
PT J
AU Emerson, E
AF Emerson, Eric
TI Families Supporting a Child with Intellectual or Developmental
Disabilities: The Current State of Knowledge
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Review
DE families; IASSIDD; review
ID MIDDLE-INCOME COUNTRIES; QUALITY-OF-LIFE; AUTISM SPECTRUM DISORDER;
MATERNAL MENTAL-HEALTH; BEHAVIOR PROBLEMS; DOWN-SYNDROME;
PRESCHOOL-CHILDREN; DISABLED-CHILDREN; YOUNG-CHILDREN; THE-LITERATURE
AB This IASSIDD Position Paper provides a concise authoritative summary of (i) existing scientific knowledge regarding the situation, challenges and wellbeing of families that include a child with intellectual and/or developmental disabilities, and (ii) priorities for future research. IASSIDD (www.iassidd.org) is the leading global organisation for researchers and research centres that seek to improve the understanding of and improve the lives of people with intellectual or developmental disabilities, their families and those who support them. The paper and the recommendations it contains have been developed through an iterative process led by IASSIDD's Families Special Interest Research Group (SIRG). During this process, all members of the Families SIRG and all members of IASSIDD's ruling council have had the opportunity to comment on drafts of this paper. The final Position Paper was adopted by the Council of IASSIDD on 9 July 2012.
C1 Univ Lancaster, Div Hlth Res, Lancaster, Devon, England.
RP Emerson, E (reprint author), Univ Lancaster, Div Hlth Res, Lancaster, Devon, England.
EM eric.emerson@lancaster.ac.uk
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NR 121
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1360-2322
EI 1468-3148
J9 J APPL RES INTELLECT
JI J. Appl. Res. Intellect. Disabil.
PD SEP
PY 2014
VL 27
IS 5
BP 420
EP 430
DI 10.1111/jar.12078
PG 11
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AR9AY
UT WOS:000343864300002
ER
PT J
AU Penketh, V
Hare, DJ
Flood, A
Walker, S
AF Penketh, Victoria
Hare, Dougal Julian
Flood, Andrea
Walker, Samantha
TI Attachment in Adults with Intellectual Disabilities: Preliminary
Investigation of the Psychometric Properties of the Manchester
Attachment Scale-Third Party Observational Measure
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Article
DE adults; assessment; attachment theory; intellectual disability
ID AUTISM SPECTRUM DISORDER; MENTAL-RETARDATION; DOWN-SYNDROME; CHALLENGING
BEHAVIOR; CHILDREN; PEOPLE; PERSONALITY; SENSITIVITY; HEALTH; MODEL
AB Background The Manchester Attachment Scale-Third party observational measure (MAST) was developed to assess secure attachment style for adults with intellectual disabilities. The psychometric properties of the MAST were examined.
Materials and Methods Professional carers (N = 40) completed the MAST and measures related to the construct of attachment theory [Edward Zigler-Yale Personality Questionnaire (EZPQ), Emotional Rating Scale (ERS) and the Learning Disability Casemix Scale (LDCS)] regarding individuals with an intellectual disability (N = 57). Individuals with an intellectual disability (N = 14) completed the Self-report Assessment of Attachment Security (SRAAS).
Results The MAST was found to have good internal consistency, test-retest reliability and convergent validity. MAST scores were negatively correlated with level of intellectual disability and challenging behaviour (CB) as measured by LDCS.
Conclusions Support was provided for the reliability and validity of the MAST and a relationship between attachment security, level of intellectual disability and CB. The results of the study and implications of attachment theory for service provision are discussed.
C1 [Penketh, Victoria] Lancashire Care NHS Fdn Trust, Preston, Lancs, England.
[Hare, Dougal Julian] Univ Manchester, Sch Psychol Sci, Manchester M13 9PL, Lancs, England.
[Flood, Andrea] Together Trust, Cheadle, England.
[Walker, Samantha] Calderstones Partnership NHS Fdn Trust, Clitheroe, England.
RP Hare, DJ (reprint author), Univ Manchester, Sch Psychol Sci, Zochonis Bldg,Brunswick St, Manchester M13 9PL, Lancs, England.
EM dougal.hare@manchester.ac.uk
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NR 47
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1360-2322
EI 1468-3148
J9 J APPL RES INTELLECT
JI J. Appl. Res. Intellect. Disabil.
PD SEP
PY 2014
VL 27
IS 5
BP 458
EP 470
DI 10.1111/jar.12070
PG 13
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AR9AY
UT WOS:000343864300005
PM 24022943
ER
PT J
AU Johnels, JA
Kopp, S
Gillberg, C
AF Johnels, Jakob Asberg
Kopp, Svenny
Gillberg, Christopher
TI Spelling Difficulties in School-Aged Girls With
Attention-Deficit/Hyperactivity Disorder: Behavioral, Psycholinguistic,
Cognitive, and Graphomotor Correlates
SO JOURNAL OF LEARNING DISABILITIES
LA English
DT Article
DE writing; literacy; ADHD; girls; memory; executive functions; handwriting
ID DEFICIT-HYPERACTIVITY DISORDER; REGULATED STRATEGY-DEVELOPMENT;
OPPOSITIONAL-DEFIANT DISORDER; WORKING-MEMORY; READING-COMPREHENSION;
CHILDREN; ADHD; DYSLEXIA; ADOLESCENTS; AUTISM
AB Writing difficulties are common among children with attention-deficit/hyperactivity disorder (ADHD), but the nature of these difficulties has not been well studied. Here we relate behavioral, psycholinguistic, cognitive (memory/executive), and graphomotor measures to spelling skills in school-age girls with ADHD (n = 30) and an age-matched group of typically developed spellers (TYPSP, n = 35). When subdividing the ADHD group into those with poor (ADHDPSP, n = 19) and typical spelling (ADHDTYPSP, n = 11), the two subgroups did not differ with regard to inattentive or hyperactive-impulsive symptom severity according to parent or teacher ratings. Both ADHD subgroups also had equally severe difficulties in graphomotor control-handwriting and (parent ratings of) written expression as compared to the TYPSP group. In contrast, ADHDPSP had problems relative to ADHDTYPSP and TYPSP on phonological and orthographic recoding (choice tasks) and verbal memory (digit span) and were more likely to make commissions on a continuous performance task (CPT). Further analyses using the collapsed ADHD group showed that both digit span and the presence of CPT commissions predicted spelling performance independently of each other. Finally, results showed that phonological recoding skills mediated the association between digit span and spelling performance in ADHD. Theoretical and educational implications are discussed.
C1 [Johnels, Jakob Asberg; Kopp, Svenny; Gillberg, Christopher] Univ Gothenburg, SE-41119 Gothenburg, Sweden.
RP Johnels, JA (reprint author), Univ Gothenburg, Gillberg Neuropsychiat Ctr, Kungsgatan 12, SE-41119 Gothenburg, Sweden.
EM psyjaas@psy.gu.se
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Yoshimasu K., 2011, PEDIATRICS, V128, P605
NR 71
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0022-2194
EI 1538-4780
J9 J LEARN DISABIL-US
JI J. Learn. Disabil.
PD SEP-OCT
PY 2014
VL 47
IS 5
BP 424
EP 434
DI 10.1177/0022219412467058
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AS1TX
UT WOS:000344065600003
ER
PT J
AU Murad, A
Fritsch, A
Bizet, E
Schaal, C
AF Murad, Ayman
Fritsch, Aurelie
Bizet, Eric
Schaal, Christian
TI Autism in adulthood: Clinical aspects
SO ANNALES MEDICO-PSYCHOLOGIQUES
LA French
DT Article
DE Asperger's syndrome; Autism; Autism spectrum disorders; Invasive
developmental disorders
ID ASPERGERS-SYNDROME; DISORDERS; CHILDREN
AB Studies relating to autism spectrum disorders have mainly been carried out in children. However, when children with autism become adult, their handicap continues to put a strain on their everyday life. It is important that health professionals in charge of adult patients consider the possibility of autistic syndrome in patients whose behavior is atypical. Mental disorders may present in a special way in patients with autism spectrum disorders. For instance, depression may produce irritability, aggressive behavior, and change of rituals. Autism spectrum disorders have common features with many other mental disorders, such as schizophrenia and obsessive-compulsive disorders. Our article offers a review of clinical and historical particularities that may help clinicians establish appropriate diagnosis. In this article we focus on clinical features, differential diagnosis, and comorbidity in adult people with autism spectrum disorders. A subsequent article will deal with diagnostic work-up and therapeutic aspects of autism in adult patients. (C) 2014 Elsevier Masson SAS. All rights reserved.
C1 [Murad, Ayman; Fritsch, Aurelie; Bizet, Eric; Schaal, Christian] Ctr Hosp Rouffach, F-68000 Colmar, France.
RP Murad, A (reprint author), Ctr Hosp Rouffach, Espace Autismes 68,13 Rue Charles Sandherr, F-68000 Colmar, France.
EM a.murad@ch-rouffach.fr
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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Constant J, 2002, B SCI ARAPI, V9, P25
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Haute Autorite de sante, 2011, ARG SCI
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Organisation mondiale de la sante, 2000, DESCR CLIN DIR DIAGN
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NR 28
TC 0
Z9 0
PU MASSON EDITEUR
PI MOULINEAUX CEDEX 9
PA 21 STREET CAMILLE DESMOULINS, ISSY, 92789 MOULINEAUX CEDEX 9, FRANCE
SN 0003-4487
EI 1769-6631
J9 ANN MED-PSYCHOL
JI Ann. Med.-Psychol.
PD SEP
PY 2014
VL 172
IS 7
BP 577
EP 586
DI 10.1016/j.amp.2014.07.010
PG 10
WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology,
Multidisciplinary
SC Pharmacology & Pharmacy; Psychiatry; Psychology
GA AR1YD
UT WOS:000343379600018
ER
PT J
AU Murad, A
Fritsch, A
Bizet, E
Schaal, C
AF Murad, Ayman
Fritsch, Aurelie
Bizet, Eric
Schaal, Christian
TI Autism in adulthood: Diagnostic work-up and therapeutic issues
SO ANNALES MEDICO-PSYCHOLOGIQUES
LA French
DT Article
DE Asperger's syndrome; Autism; Autism spectrum disorders; Invasive
developmental disorders; Social skills training
ID SPECTRUM DISORDERS; MELATONIN; OXYTOCIN; BEHAVIOR
AB Diagnostic assessment of autism spectrum disorders includes psychiatric examination, semi-structured interviews as well as standardized tools. Work-up should allow to establish diagnosis and comorbidities and to evaluate the patient's skills and difficulties. Assessment should offer suggestions about the help that may be proposed to patients in the personal and social fields. In this article, we present the way our team carry on diagnostic assessment. Afterwards, we give a synopsis about the support mental health professionals can propose to adult patients with autism spectrum disorders. The main forms of support are fitting out patient's environment, emotion (especially anger and anxiety) management, social skills training, and medication. (C) 2014 Elsevier Masson SAS. All rights reserved.
C1 [Murad, Ayman; Fritsch, Aurelie; Bizet, Eric; Schaal, Christian] Ctr Hosp Rouffach, F-68000 Colmar, France.
RP Murad, A (reprint author), Ctr Hosp Rouffach, Espace Autismes 68,13 Rue Charles Sandherr, F-68000 Colmar, France.
EM a.murad@ch-rouffach.fr
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NR 22
TC 0
Z9 0
PU MASSON EDITEUR
PI MOULINEAUX CEDEX 9
PA 21 STREET CAMILLE DESMOULINS, ISSY, 92789 MOULINEAUX CEDEX 9, FRANCE
SN 0003-4487
EI 1769-6631
J9 ANN MED-PSYCHOL
JI Ann. Med.-Psychol.
PD SEP
PY 2014
VL 172
IS 7
BP 587
EP 594
DI 10.1016/j.amp.2014.07.011
PG 8
WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology,
Multidisciplinary
SC Pharmacology & Pharmacy; Psychiatry; Psychology
GA AR1YD
UT WOS:000343379600019
ER
PT J
AU Meltzer, LJ
Mindell, JA
AF Meltzer, Lisa J.
Mindell, Jodi A.
TI Systematic Review and Meta-Analysis of Behavioral Interventions for
Pediatric Insomnia
SO JOURNAL OF PEDIATRIC PSYCHOLOGY
LA English
DT Review
DE bedtime problems; behavioral insomnia of childhood; behavioral
treatment; insomnia; night wakings; pediatric insomnia; treatment
ID RANDOMIZED CONTROLLED-TRIAL; SCHOOL-AGED CHILDREN; INFANT SLEEP
PROBLEMS; AUTISM SPECTRUM DISORDERS; ATTENTION-DEFICIT/HYPERACTIVITY
DISORDER; INTERNET-BASED INTERVENTION; SELF-HARM BEHAVIORS; 1ST 3 YEARS;
YOUNG-CHILDREN; NIGHT WAKINGS
AB Objective To evaluate and quantify the evidence for behavioral interventions for pediatric insomnia. Methods Meta-analysis of 16 controlled trials and qualitative analysis of 12 within-subject studies were conducted (total n = 2,560). Results Meta-analysis found significant effects for four specified sleep outcomes: sleep-onset latency, number of night wakings, and duration of night wakings, and sleep efficiency, with small to large effect sizes across the controlled clinical trials involving typical children. No significant effects were found for the two studies conducted with special needs populations. Finally, within-subjects studies demonstrated significant effects for all sleep outcomes with large effect sizes. Risk of bias assessment and GRADE ratings of the quality of the evidence are described. Conclusion Moderate-level evidence supports behavioral interventions for pediatric insomnia in young children. However, low evidence for children, adolescents, and those with special needs (due to a lack of studies that met inclusion criteria) highlights the need for future research.
C1 [Meltzer, Lisa J.] Natl Jewish Hlth, Dept Pediat, Denver, CO 80206 USA.
[Mindell, Jodi A.] St Josephs Hosp, Dept Psychol, Nashua, NH USA.
[Mindell, Jodi A.] Childrens Hosp Philadelphia, Sleep Ctr, Philadelphia, PA USA.
RP Meltzer, LJ (reprint author), Natl Jewish Hlth, Dept Pediat, 1400 Jackson St,G311, Denver, CO 80206 USA.
EM meltzerL@njhealth.org
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NR 87
TC 2
Z9 2
PU OXFORD UNIV PRESS INC
PI CARY
PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA
SN 0146-8693
EI 1465-735X
J9 J PEDIATR PSYCHOL
JI J. Pediatr. Psychol.
PD SEP
PY 2014
VL 39
IS 8
SI SI
BP 932
EP 948
DI 10.1093/jpepsy/jsu041
PG 17
WC Psychology, Developmental
SC Psychology
GA AR2FD
UT WOS:000343398100011
PM 24947271
ER
PT J
AU Libero, LE
DeRamus, TP
Deshpande, HD
Kana, RK
AF Libero, Lauren E.
DeRamus, Thomas P.
Deshpande, Hrishikesh D.
Kana, Rajesh K.
TI Surface-based morphometry of the cortical architecture of autism
spectrum disorders: volume, thickness, area, and gyrification
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Autism spectrum disorder; Surface-based morphometry; Freesurfer; Social
brain; Neuroanatomy
ID HUMAN CEREBRAL-CORTEX; MAGNETIC-RESONANCE IMAGES; MIRROR NEURON
DYSFUNCTION; VOXEL-BASED MORPHOMETRY; EMBEDDED FIGURES TASK;
AGE-RELATED-CHANGES; BRAIN SIZE; FUNCTIONAL CONNECTIVITY; MINICOLUMNAR
PATHOLOGY; GEOMETRICALLY ACCURATE
AB Structural neuroimaging studies of autism spectrum disorder (ASD) have uncovered widespread neuroanatomical abnormalities, which may have a significant impact on brain function, connectivity, and on behavioral symptoms of autism. The findings of previous structural MRI studies have largely been distributed across several brain areas, with limited consistency. The current study examined neuroanatomical abnormalities by comparing surface-based measures of cortical morphology (CT: cortical thickness, CSA: cortical surface area, CV: cortical volume, and GI: gyrification index) in 55 high-functioning children and adults with ASD to 60 age-and-IQ-matched typically developing (TD) peers. A few brain areas, the fusiform gyrus (FG), middle temporal gyrus (MTG), and inferior frontal gyrus (IFG), emerged to be primarily different in their morphology between the two groups. Compared to TD participants, ASD participants had significantly smaller CV in left MTG, reduced CSA in bilateral MTG and FG, reduced GI in left supramarginal gyrus, and significantly increased CT in the pars opercularis of the IFG. As a function of age, ASD participants had significant reductions in: CT in the pars opercularis, CSA of the left rostral middle frontal gyrus, and GI for left supramarginal gyrus. Thus, alterations in cortical morphology in ASD were seen primarily in regions that are considered part of the social brain. Overall, these findings point to: neuroanatomical alterations in social brain areas, developmental differences in neuroanatomy, and the need to study neuroanatomy at multiple levels in order to better characterize the cortical architecture of ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Libero, Lauren E.; DeRamus, Thomas P.; Kana, Rajesh K.] Univ Alabama Birmingham, Dept Psychol, Birmingham, AL 35294 USA.
[Deshpande, Hrishikesh D.] Univ Alabama Birmingham, Dept Radiol, Birmingham, AL 35294 USA.
RP Kana, RK (reprint author), Univ Alabama Birmingham, Dept Psychol, CIRC 235G,1719 6th Ave South, Birmingham, AL 35294 USA.
EM rkana@uab.edu
FU UAB Department of Psychology funds
FX This research was supported by the UAB Department of Psychology funds to
R.K. The authors would like to thank Heather Wadsworth, Adrian
Lazarescu, and Dr. Lawrence Ver Hoef for their help in different aspects
of data collection.
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NR 137
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3932
EI 1873-3514
J9 NEUROPSYCHOLOGIA
JI Neuropsychologia
PD SEP
PY 2014
VL 62
BP 1
EP 10
DI 10.1016/j.neuropsychologia.2014.07.001
PG 10
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AR2BV
UT WOS:000343389500001
PM 25019362
ER
PT J
AU Croydon, A
Pimperton, H
Ewing, L
Duchaine, BC
Pellicano, E
AF Croydon, Abigail
Pimperton, Hannah
Ewing, Louise
Duchaine, Brad C.
Pellicano, Elizabeth
TI The Cambridge Face Memory Test for Children (CFMT-C): A new tool for
measuring face recognition skills in childhood
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Face recognition; Face memory; Development; Children; Inversion effect
ID DEVELOPMENTAL PROSOPAGNOSIA; IDENTITY RECOGNITION; MOTHERS FACE; AUTISM;
PERCEPTION; INDIVIDUALS; INFORMATION; EXPERTISE; ABILITY; ADULTS
AB Face recognition ability follows a lengthy developmental course, not reaching maturity until well into adulthood. Valid and reliable assessments of face recognition memory ability are necessary to examine patterns of ability and disability in face processing, yet there is a dearth of such assessments for children. We modified a well-known test of face memory in adults, the Cambridge Face Memory Test (Duchaine & Nakayama, 2006, Neuropsychologia, 44,576-585), to make it developmentally appropriate for children. To establish its utility, we administered either the upright or inverted versions of the computerised Cambridge Face Memory Test - Children (CFMT-C) to 401 children aged between 5 and 12 years. Our results show that the CFMT-C is sufficiently sensitive to demonstrate age-related gains in the recognition of unfamiliar upright and inverted faces, does not suffer from ceiling or floor effects, generates robust inversion effects, and is capable of detecting difficulties in face memory in children diagnosed with autism. Together, these findings indicate that the CFMT-C constitutes a new valid assessment tool for children's face recognition skills. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Croydon, Abigail; Pellicano, Elizabeth] Univ London, Inst Educ, Ctr Res Autism & Educ CRAE, London WC1N 1AZ, England.
[Pimperton, Hannah] UCL, Inst Cognit Neurosci, London, England.
[Ewing, Louise] Birkbeck, Dept Psychol Sci, London, England.
[Ewing, Louise; Pellicano, Elizabeth] Univ Western Australia, Sch Psychol, Perth, WA 6009, Australia.
[Duchaine, Brad C.] Dartmouth Coll, Dept Psychol & Brain Sci, Hanover, NH 03755 USA.
RP Pellicano, E (reprint author), Inst Educ, Ctr Res Autism & Educ, Dept Psychol & Human Dev, 25 Woburn Sq, London WC1H 0AA, England.
EM l.pellicano@ioe.ac.uk
FU Clothworkers' Foundation; Pears Foundation
FX This paper is in memory of Dr Andy Calder, a mentor and friend, whose
dedication to the highest quality scientific research in face processing
was unsurpassed. We are very grateful to the children, families and
school staff who kindly took part in this research. Thanks also to Laura
Dixon, Louise Edgington, Marlene Flogel, Emma Jaquet, Lydia King, Elena
Klaric, Catherine Manning, Romina Palermo, Gill Rhodes, Erica Salomone,
Martin Thirkettle and Ellie Wilson for help with data collection and to
Marc Stears for comments on a previous version of this manuscript.
Research at the Centre for Research in Autism and Education (CRAE) is
also supported by The Clothworkers' Foundation and Pears Foundation.
CR Aiken L R., 2003, PSYCHOL TESTING ASSE
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 45
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3932
EI 1873-3514
J9 NEUROPSYCHOLOGIA
JI Neuropsychologia
PD SEP
PY 2014
VL 62
BP 60
EP 67
DI 10.1016/j.neuropsychologia.2014.07.008
PG 8
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AR2BV
UT WOS:000343389500007
PM 25054837
ER
PT J
AU Rhodes, G
Ewing, L
Jeffery, L
Avard, E
Taylor, L
AF Rhodes, Gillian
Ewing, Louise
Jeffery, Linda
Avard, Eleni
Taylor, Libby
TI Reduced adaptability, but no fundamental disruption, of norm-based
face-coding mechanisms in cognitively able children and adolescents with
autism
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Autism; Face recognition; Face identity aftereffects; Adaptive coding;
Norm-based coding
ID RECOGNITION ABILITY; MEMORY TEST; INDIVIDUAL-DIFFERENCES; ADAPTIVE FACE;
IDENTITY; ADAPTATION; PROSOPAGNOSIA; PERCEPTION; ATTENTION; PATTERNS
AB Faces are adaptively coded relative to visual norms that are updated by experience. This coding is compromised in autism and the broader autism phenotype, suggesting that atypical adaptive coding of faces may be an endophenotype for autism. Here we investigate the nature of this atypicality, asking whether adaptive face-coding mechanisms are fundamentally altered, or simply less responsive to experience, in autism. We measured adaptive coding, using face identity aftereffects, in cognitively able children and adolescents with autism and neurotypical age- and ability-matched participants. We asked whether these aftereffects increase with adaptor identity strength as in neurotypical populations, or whether they show a different pattern indicating a more fundamental alteration in face-coding mechanisms. As expected, face identity aftereffects were reduced in the autism group, but they nevertheless increased with adaptor strength, like those of our neurotypical participants, consistent with norm-based coding of face identity. Moreover, their aftereffects correlated positively with face recognition ability, consistent with an intact functional role for adaptive coding in face recognition ability. We conclude that adaptive norm-based face-coding mechanisms are basically intact in autism, but are less readily calibrated by experience. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Rhodes, Gillian; Ewing, Louise; Jeffery, Linda; Avard, Eleni; Taylor, Libby] Univ Western Australia, Sch Psychol, ARC Ctr Excellence Cognit & Its Disorders, Crawley, WA 6009, Australia.
RP Rhodes, G (reprint author), Univ Western Australia, Sch Psychol, ARC Ctr Excellence Cognit & Its Disorders, 35 Stirling Highway, Crawley, WA 6009, Australia.
EM gillian.rhodes@uwa.edu.au
FU Australian Research Council Centre of Excellence in Cognition and its
Disorders [CE110001021]; ARC [DP0877379, DP130102300]
FX This research was supported by the Australian Research Council Centre of
Excellence in Cognition and its Disorders (CE110001021), an ARC
Professorial Fellowship to Rhodes (DP0877379) and an ARC Discovery
Outstanding Researcher Award to Rhodes (DP130102300). We thank Mayu
Nishimura and Daphne Maurer for co-creating the Robbers Game used in the
Identity Aftereffects task, Ainsley Read for assistance designing
testing protocols and assistance with testing, and Nichola Burton,
Francis Caulfield and Samantha Bank for assistance with testing. Ethical
approval was granted by the Human Research Ethics Committee of the
University of Western Australia.
CR American Psychiatric Association, 2013, DIAGNOSTIC AND STATI
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NR 47
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3932
EI 1873-3514
J9 NEUROPSYCHOLOGIA
JI Neuropsychologia
PD SEP
PY 2014
VL 62
BP 262
EP 268
DI 10.1016/j.neuropsychologia.2014.07.030
PG 7
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AR2BV
UT WOS:000343389500026
PM 25090925
ER
PT J
AU Bonsall, A
AF Bonsall, Aaron
TI The Social Context of Occupations: Analysis of a Father Feeding his
Daughter Diagnosed with Cerebral Palsy
SO OTJR-OCCUPATION PARTICIPATION AND HEALTH
LA English
DT Article
DE cerebral palsy; mealtime; occupation
ID CHILDREN; MOTHERS; DISABILITY; CHILDHOOD; FAMILIES; AUTISM; GROWTH
AB The purpose of this article is to examine a father feeding his daughter who is diagnosed with cerebral palsy in order to identify the contexts that make this occupation significant. The analysis of direct observation and interviews demonstrates significant moments where two individuals make intersubjective connections. Themes that are presented are the Intensity of Mealtime, Connections Between Participants, and Adapted Forms of Communication. Both the difficulties and rewards of mealtime are illustrated within these themes. This analysis reveals the structure and importance of doing together in influencing and determining occupations. From a clinical perspective, the meaningfulness of fathering occupations highlights the importance of including fathers in family-centered care.
C1 Univ Missouri, Dept Occupat Therapy, Columbia, MO 65211 USA.
RP Bonsall, A (reprint author), Univ Missouri, Dept Occupat Therapy, 804A Clark Hall, Columbia, MO 65211 USA.
EM Bonsalla@health.missouri.edu
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NR 46
TC 0
Z9 0
PU SLACK INC
PI THOROFARE
PA 6900 GROVE RD, THOROFARE, NJ 08086 USA
SN 1539-4492
EI 1938-2383
J9 OTJR-OCCUP PART HEAL
JI OTJR-Occup. Particip. Health
PD FAL
PY 2014
VL 34
IS 4
BP 193
EP 201
DI 10.3928/15394492-20141006-04
PG 9
WC Rehabilitation
SC Rehabilitation
GA AR1PO
UT WOS:000343357300004
PM 25347757
ER
PT J
AU Lim, JH
Seo, EJ
Kim, YM
Cho, HJ
Lee, JO
Cheon, CK
Yoo, HW
AF Lim, Ji-Hun
Seo, Eul-Ju
Kim, Yoo-Mi
Cho, Hyun-Ju
Lee, Jin-Ok
Cheon, Chong Kun
Yoo, Han-Wook
TI A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG
Syndrome
SO ANNALS OF LABORATORY MEDICINE
LA English
DT Article
DE KBG syndrome; ANKRD11; Array CGH; 16q24.3 microdeletion
ID MUTATIONS; DELETION
AB KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11 gene (ANKRD11) has recently been identified as a causal factor of this syndrome. We describe a 6-yr-old Korean boy with features of KBG syndrome. The patient had a short stature, macrodontia, dysmorphic facial features, speech and motor delay with intellectual disability, and partial seizures as indicated by the electroencephalogram, but he was neither autistic nor had autism spectrum disorders. Using-high-resolution oligonucleotide array comparative genomic hybridization, we identified a heterozygous 240-kb deletion at 16q24.3 corresponding to ANKRD11. This patient provided additional evidence on the influence of ANKRD11 in KBG syndrome and suggested that deletion limited to ANKRD11 is unlikely to cause autism.
C1 [Lim, Ji-Hun; Seo, Eul-Ju; Kim, Yoo-Mi; Cho, Hyun-Ju; Yoo, Han-Wook] Univ Ulsan, Coll Med, Ctr Med Genet, Seoul, South Korea.
[Lim, Ji-Hun; Seo, Eul-Ju] Univ Ulsan, Coll Med, Dept Lab Med, Seoul, South Korea.
[Kim, Yoo-Mi; Yoo, Han-Wook] Univ Ulsan, Coll Med, Dept Pediat, Seoul, South Korea.
[Kim, Yoo-Mi; Yoo, Han-Wook] Asan Med Ctr, Seoul 138736, South Korea.
[Lim, Ji-Hun] Univ Ulsan, Coll Med, Ulsan Univ Hosp, Dept Lab Med, Ulsan 680749, South Korea.
[Lee, Jin-Ok] Asan Med Ctr, Asan Inst Life Sci, Seoul 138736, South Korea.
[Cheon, Chong Kun] Pusan Natl Univ, Childrens Hosp, Dept Pediat, Pusan, South Korea.
RP Seo, EJ (reprint author), Asan Med Ctr, Dept Lab Med, 88 Olymp Ro 43 Gil, Seoul 138736, South Korea.
EM ejseo@amc.seoul.kr
CR Brancati F, 2004, AM J MED GENET A, V131A, P144, DOI 10.1002/ajmg.a.30292
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NR 11
TC 1
Z9 1
PU KOREAN SOC LABORATORY MEDICINE
PI SEOUL
PA KOREAN MEDICAL ASSOC BLDG, RM 602,302-75 ICHON 1-DONG, YONGSAN-GU,
SEOUL, 140-721, SOUTH KOREA
SN 2234-3806
EI 2234-3814
J9 ANN LAB MED
JI Ann. Lab. Med.
PD SEP
PY 2014
VL 34
IS 5
BP 390
EP 394
DI 10.3343/alm.2014.34.5.390
PG 5
WC Medical Laboratory Technology
SC Medical Laboratory Technology
GA AQ6YN
UT WOS:000342959900010
PM 25187894
ER
PT J
AU Oliveira, JIN
Albuquerque, EL
Fulco, UL
Mauriz, PW
Sarmento, RG
Caetano, EWS
Freire, VN
AF Oliveira, J. I. N.
Albuquerque, E. L.
Fulco, U. L.
Mauriz, P. W.
Sarmento, R. G.
Caetano, E. W. S.
Freire, V. N.
TI Conductance of single microRNAs chains related to the autism spectrum
disorder
SO EPL
LA English
DT Article
ID DNA CHARGE-TRANSPORT; RNA NUCLEOSIDES; BASE-PAIRS; GENE; BIOGENESIS;
HYDROGEN; DEVICES
AB The charge transport properties of single-stranded microRNAs (miRNAs) chains associated to autism disorder were investigated. The computations were performed within a tight-binding model, together with a transfer matrix technique, with ionization energies and hopping parameters obtained by quantum chemistry method. Current-voltage (I x V) curves of twelve miRNA chains related to the autism spectrum disorders were calculated and analysed. We have obtained both semiconductor and insulator behavior, and a relationship between the current intensity and the autism-related miRNA bases sequencies, suggesting that a kind of electronic biosensor can be developed to distinguish different profiles of autism disorders. Copyright (C) EPLA, 2014
C1 [Oliveira, J. I. N.; Fulco, U. L.; Mauriz, P. W.] Univ Fed Rio Grande do Norte, Dept Biofis & Farmacol, BR-59072970 Natal, RN, Brazil.
[Mauriz, P. W.] Inst Fed Educ Ciencia & Tecnol Maranhao, Dept Fis, BR-65030005 Sao Luis, RN, Brazil.
[Sarmento, R. G.] Univ Fed Piaui, Dept Ciencias Biol, BR-64800000 Floriano, PI, Brazil.
[Sarmento, R. G.] Inst Fed Educ Ciencia & Tecnol Piaui, BR-64000040 Teresina, PI, Brazil.
[Caetano, E. W. S.] Inst Fed Educ Ciencia & Tecnol Ceara, BR-60040531 Fortaleza, CE, Brazil.
[Freire, V. N.] Univ Fed Ceara, Dept Fis, BR-60455760 Fortaleza, CE, Brazil.
RP Oliveira, JIN (reprint author), Univ Fed Rio Grande do Norte, Dept Biofis & Farmacol, BR-59072970 Natal, RN, Brazil.
RI Albuquerque, E. L./B-9056-2015
FU Brazilian Research Agency CAPES (Rede NanoBioTec); Brazilian Research
Agency CNPq (INCT-Nano(Bio)Simes, Casadinho/Procad and PNPD)
FX This work was partially financed by the Brazilian Research Agencies
CAPES (Rede NanoBioTec) and CNPq (INCT-Nano(Bio)Simes, Casadinho/Procad
and PNPD).
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NR 39
TC 0
Z9 0
PU EPL ASSOCIATION, EUROPEAN PHYSICAL SOCIETY
PI MULHOUSE
PA 6 RUE DES FRERES LUMIERE, MULHOUSE, 68200, FRANCE
SN 0295-5075
EI 1286-4854
J9 EPL-EUROPHYS LETT
JI EPL
PD SEP
PY 2014
VL 107
IS 6
AR 68006
DI 10.1209/0295-5075/107/68006
PG 6
WC Physics, Multidisciplinary
SC Physics
GA AQ8YD
UT WOS:000343125400030
ER
PT J
AU Laudon, M
Frydman-Marom, A
AF Laudon, Moshe
Frydman-Marom, Anat
TI Therapeutic Effects of Melatonin Receptor Agonists on Sleep and Comorbid
Disorders
SO INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
LA English
DT Review
DE insomnia comorbid; sleep; melatonin receptors agonists
ID PROLONGED-RELEASE MELATONIN; PLACEBO-CONTROLLED TRIAL; MAJOR DEPRESSIVE
DISORDER; SPONTANEOUSLY HYPERTENSIVE-RATS; AUTISM SPECTRUM DISORDERS;
PARKINSONS-DISEASE; BLOOD-PRESSURE; DOUBLE-BLIND; ALZHEIMERS-DISEASE;
METABOLIC SYNDROME
AB Several melatonin receptors agonists (ramelteon, prolonged-release melatonin, agomelatine and tasimelteon) have recently become available for the treatment of insomnia, depression and circadian rhythms sleep-wake disorders. The efficacy and safety profiles of these compounds in the treatment of the indicated disorders are reviewed. Accumulating evidence indicates that sleep-wake disorders and co-existing medical conditions are mutually exacerbating. This understanding has now been incorporated into the new Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5). Therefore, when evaluating the risk/benefit ratio of sleep drugs, it is pertinent to also evaluate their effects on wake and comorbid condition. Beneficial effects of melatonin receptor agonists on comorbid neurological, psychiatric, cardiovascular and metabolic symptomatology beyond sleep regulation are also described. The review underlines the beneficial value of enhancing physiological sleep in comorbid conditions.
C1 [Laudon, Moshe; Frydman-Marom, Anat] Neurim Pharmaceut Ltd, IL-6971039 Tel Aviv, Israel.
RP Laudon, M (reprint author), Neurim Pharmaceut Ltd, 27 Habarzel St, IL-6971039 Tel Aviv, Israel.
EM moshel@neurim.com; anatf@neurim.com
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NR 184
TC 3
Z9 4
PU MDPI AG
PI BASEL
PA POSTFACH, CH-4005 BASEL, SWITZERLAND
SN 1422-0067
J9 INT J MOL SCI
JI Int. J. Mol. Sci.
PD SEP
PY 2014
VL 15
IS 9
BP 15924
EP 15950
DI 10.3390/ijms150915924
PG 27
WC Biochemistry & Molecular Biology; Chemistry, Multidisciplinary
SC Biochemistry & Molecular Biology; Chemistry
GA AQ8UN
UT WOS:000343109700062
PM 25207602
ER
PT J
AU Deriziotis, P
O'Roak, BJ
Graham, SA
Estruch, SB
Dimitropoulou, D
Bernier, RA
Gerdts, J
Shendure, J
Eichler, EE
Fisher, SE
AF Deriziotis, Pelagia
O'Roak, Brian J.
Graham, Sarah A.
Estruch, Sara B.
Dimitropoulou, Danai
Bernier, Raphael A.
Gerdts, Jennifer
Shendure, Jay
Eichler, Evan E.
Fisher, Simon E.
TI De novo TBR1 mutations in sporadic autism disrupt protein functions
SO NATURE COMMUNICATIONS
LA English
DT Article
ID ULNAR-MAMMARY SYNDROME; HOLT-ORAM SYNDROME; LANGUAGE DISORDER; SPECTRUM
DISORDERS; SEVERE SPEECH; TRANSCRIPTION FACTOR; PROJECTION NEURONS;
CEREBRAL-CORTEX; HUMAN TBX3; GENE
AB Next-generation sequencing recently revealed that recurrent disruptive mutations in a few genes may account for 1% of sporadic autism cases. Coupling these novel genetic data to empirical assays of protein function can illuminate crucial molecular networks. Here we demonstrate the power of the approach, performing the first functional analyses of TBR1 variants identified in sporadic autism. De novo truncating and missense mutations disrupt multiple aspects of TBR1 function, including subcellular localization, interactions with co-regulators and transcriptional repression. Missense mutations inherited from unaffected parents did not disturb function in our assays. We show that TBR1 homodimerizes, that it interacts with FOXP2, a transcription factor implicated in speech/language disorders, and that this interaction is disrupted by pathogenic mutations affecting either protein. These findings support the hypothesis that de novo mutations in sporadic autism have severe functional consequences. Moreover, they uncover neurogenetic mechanisms that bridge different neurodevelopmental disorders involving language deficits.
C1 [Deriziotis, Pelagia; Graham, Sarah A.; Estruch, Sara B.; Dimitropoulou, Danai; Fisher, Simon E.] Max Planck Inst Psycholinguist, Language & Genet Dept, NL-6525 XD Nijmegen, Netherlands.
[O'Roak, Brian J.; Shendure, Jay; Eichler, Evan E.] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA.
[O'Roak, Brian J.] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97239 USA.
[Bernier, Raphael A.; Gerdts, Jennifer] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA.
[Eichler, Evan E.] Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA.
[Fisher, Simon E.] Donders Inst Brain Cognit & Behav, NL-6525 EN Nijmegen, Netherlands.
RP Fisher, SE (reprint author), Max Planck Inst Psycholinguist, Language & Genet Dept, Wundtlaan 1, NL-6525 XD Nijmegen, Netherlands.
EM simon.fisher@mpi.nl
RI Fisher, Simon/E-9130-2012; Derizioti, Pelagia/C-3857-2015
OI Fisher, Simon/0000-0002-3132-1996; Derizioti,
Pelagia/0000-0001-5544-8345
FU Max Planck Society; Simons Foundation Autism Research Initiative [SFARI
303241]; NIH [MH101221]
FX We wish to thank Arianna Vino and Flavia Bianca Cristian for technical
assistance. This work was supported by the Max Planck Society and a
grant from the Simons Foundation Autism Research Initiative (SFARI
303241 to E. E. E.) and NIH (MH101221 to E. E. E.). We are grateful to
all of the families at the participating Simons Simplex Collection (SSC)
sites, as well as the principal investigators (A. Beaudet, J.
Constantino, E. Cook, E. Fombonne, D. Geschwind, R. Goin-Kochel, E.
Hanson, D. Grice, A. Klin, D. Ledbetter, C. Lord, C. Martin, D. Martin,
R. Maxim, J. Miles, O. Ousley, K. Pelphrey, B. Peterson, J. Piggot, C.
Saulnier, M. State, W. Stone, J. Sutcliffe, C. Walsh, Z. Warren, E.
Wijsman). We appreciate obtaining access to phenotypic data on SFARI
Base. Approved researchers can obtain the SSC population data set
described in this study (https://ordering.base.sfari.org/similar to
browse_collection/archive[ssc_v13]/ui:view) by applying at
https://base.sfari.org.
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TC 1
Z9 1
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2041-1723
J9 NAT COMMUN
JI Nat. Commun.
PD SEP
PY 2014
VL 5
AR 4954
DI 10.1038/ncomms5954
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AQ7HZ
UT WOS:000342984800010
PM 25232744
ER
PT J
AU Schreiner, MJ
Karlsgodt, KH
Uddin, LQ
Chow, C
Congdon, E
Jalbrzikowski, M
Bearden, CE
AF Schreiner, Matthew J.
Karlsgodt, Katherine H.
Uddin, Lucina Q.
Chow, Carolyn
Congdon, Eliza
Jalbrzikowski, Maria
Bearden, Carrie E.
TI Default mode network connectivity and reciprocal social behavior in
22q11.2 deletion syndrome
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE functional MRI; resting state; velocardiofacial syndrome;
dysconnectivity
ID RESTING-STATE NETWORKS; FUNCTIONAL CONNECTIVITY; DIAGNOSTIC INTERVIEW;
BRAIN-DYSFUNCTION; AUTISTIC TRAITS; SCHIZOPHRENIA; DISORDERS;
INDIVIDUALS; SPECTRUM; DEFICITS
AB 22q11.2 deletion syndrome (22q11DS) is a genetic mutation associated with disorders of cortical connectivity and social dysfunction. However, little is known about the functional connectivity (FC) of the resting brain in 22q11DS and its relationship with social behavior. A seed-based analysis of resting-state functional magnetic resonance imaging data was used to investigate FC associated with the posterior cingulate cortex (PCC), in (26) youth with 22qDS and (51) demographically matched controls. Subsequently, the relationship between PCC connectivity and Social Responsiveness Scale (SRS) scores was examined in 22q11DS participants. Relative to 22q11DS participants, controls showed significantly stronger FC between the PCC and other default mode network (DMN) nodes, including the precuneus, precentral gyrus and left frontal pole. 22q11DS patients did not show age-associated FC changes observed in typically developing controls. Increased connectivity between PCC, medial prefrontal regions and the anterior cingulate cortex, was associated with lower SRS scores (i.e. improved social competence) in 22q11DS. DMN integrity may play a key role in social information processing. We observed disrupted DMN connectivity in 22q11DS, paralleling reports from idiopathic autism and schizophrenia. Increased strength of long-range DMN connectivity was associated with improved social functioning in 22q11DS. These findings support a 'developmental-disconnection' hypothesis of symptom development in this disorder.
C1 [Schreiner, Matthew J.] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Interdept Neurosci Program, Los Angeles, CA 90095 USA.
[Schreiner, Matthew J.; Chow, Carolyn; Congdon, Eliza; Jalbrzikowski, Maria; Bearden, Carrie E.] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90095 USA.
[Karlsgodt, Katherine H.] Feinstein Inst Med Res, Dept Psychiat, Manhasset, NY 11030 USA.
[Karlsgodt, Katherine H.] Zucker Hillside Hosp, Glen Oaks, NY 11004 USA.
[Uddin, Lucina Q.] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA.
[Jalbrzikowski, Maria; Bearden, Carrie E.] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90095 USA.
RP Bearden, CE (reprint author), 300 Med Plaza,Suite 2267, Los Angeles, CA 90095 USA.
EM cbearden@mednet.ucla.edu
RI Karlsgodt, Katherine/H-2964-2013
OI Karlsgodt, Katherine/0000-0003-3332-4231
FU National Institute of Mental Health [R01 MH085953]; NIH/NICHD
[P50-HD-055784]; Neuroimaging Training Program fellowship [T32
T90DA022768]; UL1 Coordinating Center Grant [UL1 -DE019580,
PL1MH083271]; [K01M8092288]
FX This study was supported by grants from the National Institute of Mental
Health R01 MH085953 to CEO.); NIH/NICHD (grant P50-HD-055784 Pilot
Project Grant to C.E.B.); Neuroimaging Training Program fellowship (T32
T90DA022768 to M.J.S.), UL1 Coordinating Center Grant (UL1 -DE019580 and
PL1MH083271 to R.B.) and K01M8092288 (to L.Q.U.).
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NR 47
TC 4
Z9 4
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1749-5016
EI 1749-5024
J9 SOC COGN AFFECT NEUR
JI Soc. Cogn. Affect. Neurosci.
PD SEP
PY 2014
VL 9
IS 9
BP 1261
EP 1267
DI 10.1093/scan/nst114
PG 7
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IH
UT WOS:000342985600002
PM 23912681
ER
PT J
AU Gong, PY
Liu, JT
Li, S
Zhou, XL
AF Gong, Pingyuan
Liu, Jinting
Li, She
Zhou, Xiaolin
TI Dopamine beta-hydroxylase gene modulates individuals' empathic ability
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE dopamine beta-hydroxylase; DBH; -1021C/T; polymorphism; empathy
ID AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME;
PARKINSONS-DISEASE; EMOTIONAL EMPATHY; DBH LOCUS; SCHIZOPHRENIA; ADULTS;
NOREPINEPHRINE; POLYMORPHISM
AB Dopamine beta-hydroxylase (DBH), an enzyme that converts dopamine to norepinephrine, has broad influences on social functions. In this study, we examined to what extent two polymorphisms (-1021C/T and a 19 bp insertion/deletion) in DBH gene modulate individuals' empathic perception and response, which were measured, respectively, by reading the mind in the eyes test and the empathic concern subscale of interpersonal reactivity index. Results showed that polymorphism at -1021C/T, but not the 19 bp insertion/deletion, accounts for 2.3% variance of empathic perception and 1.4% variance of empathic response. Individuals with the CC genotype, which is associated with higher DBH activity, manifested greater empathic ability than those with CT/TT genotypes. These findings demonstrate the importance of DBH -1021C/T as a genetic basis of empathy and in predicting individual differences in social and affective processing.
C1 [Gong, Pingyuan; Liu, Jinting; Zhou, Xiaolin] Peking Univ, Ctr Brain & Cognit Sci, Beijing 100871, Peoples R China.
[Gong, Pingyuan; Li, She] Peking Univ, Dept Psychol, Beijing 100871, Peoples R China.
[Gong, Pingyuan; Li, She] Henan Univ Sci & Technol, Lab Med Mol Biol, Luoyang 471003, Peoples R China.
[Zhou, Xiaolin] Minist Educ, Key Lab Machine Percept, Beijing 100871, Peoples R China.
[Zhou, Xiaolin] Peking Univ, PKU IDG McGovern Inst Brain Res, Beijing 100871, Peoples R China.
RP Zhou, XL (reprint author), Peking Univ, Dept Psychol, Beijing 100871, Peoples R China.
EM xz104@pku.edu.cn
FU National Basic Research Program of China (973 Program) [2010CB833904];
China Postdoctoral Science Foundation [2013M530002]; Natural Science
Foundation of China [30110972, 91232708]
FX This study was supported by grants from National Basic Research Program
of China (973 Program: 2010CB833904), China Postdoctoral Science
Foundation (2013M530002), Natural Science Foundation of China (30110972,
91232708), and China Postdoctoral Science Foundation (2013M530002). We
thank Mr Peizhe Zhang, Mr Guochang Cao, Miss Hua Ma and Miss Lin Lei for
their assistances in data collection, and Mr Philip Blue and two
anonymous reviewers for their comments on an earlier version of the
manuscript.
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NR 43
TC 2
Z9 2
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1749-5016
EI 1749-5024
J9 SOC COGN AFFECT NEUR
JI Soc. Cogn. Affect. Neurosci.
PD SEP
PY 2014
VL 9
IS 9
BP 1341
EP 1345
DI 10.1093/scan/nst122
PG 5
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IH
UT WOS:000342985600012
PM 23988761
ER
PT J
AU Robertson, CE
Thomas, C
Kravitz, DJ
Wallace, GL
Baron-Cohen, S
Martin, A
Baker, CI
AF Robertson, Caroline E.
Thomas, Cibu
Kravitz, Dwight J.
Wallace, Gregory L.
Baron-Cohen, Simon
Martin, Alex
Baker, Chris I.
TI Global motion perception deficits in autism are reflected as early as
primary visual cortex
SO BRAIN
LA English
DT Article
DE autism; motion; fMRI; vision; global perception
ID SPECTRUM DISORDERS; AREA MT; COORDINATE SYSTEM; DECISION-MAKING;
PARIETAL CORTEX; STRIATE CORTEX; NEURAL BASIS; HUMAN BRAIN; CHILDREN;
MECHANISM
AB Individuals with autism are often characterized as 'seeing the trees, but not the forest'-attuned to individual details in the visual world at the expense of the global percept they compose. Here, we tested the extent to which global processing deficits in autism reflect impairments in (i) primary visual processing; or (ii) decision-formation, using an archetypal example of global perception, coherent motion perception. In an event-related functional MRI experiment, 43 intelligence quotient and age-matched male participants (21 with autism, age range 15-27 years) performed a series of coherent motion perception judgements in which the amount of local motion signals available to be integrated into a global percept was varied by controlling stimulus viewing duration (0.2 or 0.6 s) and the proportion of dots moving in the correct direction (coherence: 4%, 15%, 30%, 50%, or 75%). Both typical participants and those with autism evidenced the same basic pattern of accuracy in judging the direction of motion, with performance decreasing with reduced coherence and shorter viewing durations. Critically, these effects were exaggerated in autism: despite equal performance at the long duration, performance was more strongly reduced by shortening viewing duration in autism (P<0.015) and decreasing stimulus coherence (P<0.008). To assess the neural correlates of these effects we focused on the responses of primary visual cortex and the middle temporal area, critical in the early visual processing of motion signals, as well as a region in the intraparietal sulcus thought to be involved in perceptual decision-making. The behavioural results were mirrored in both primary visual cortex and the middle temporal area, with a greater reduction in response at short, compared with long, viewing durations in autism compared with controls (both P<0.018). In contrast, there was no difference between the groups in the intraparietal sulcus (P>0.574). These findings suggest that reduced global motion perception in autism is driven by an atypical response early in visual processing and may reflect a fundamental perturbation in neural circuitry.
C1 [Robertson, Caroline E.; Thomas, Cibu; Kravitz, Dwight J.; Wallace, Gregory L.; Martin, Alex; Baker, Chris I.] NIMH, Lab Brain & Cognit, NIH, Bethesda, MD 20892 USA.
[Robertson, Caroline E.; Baron-Cohen, Simon] Univ Cambridge, Autism Res Ctr, Dept Psychiat, Cambridge CB2 8AH, England.
[Baron-Cohen, Simon] Cambridgeshire & Peterborough NHS Fdn Trust, CLASS Clin, Peterborough, England.
RP Robertson, CE (reprint author), Harvard Soc Fellows, 78 Mt Auburn St, Cambridge, MA 02138 USA.
EM carolinerobertson@fas.harvard.edu
FU NIH-Cambridge Fellowship; MRC; Autism Research Trust; Wellcome Trust;
Intramural Research Program of the National Institute of Mental Health
[1-ZIA-MH002893-07, 1-ZIA-MH002920-04]; NIH Combined Neuroscience
Institutional Review Board
FX This work was supported by the Intramural Research Program of the
National Institute of Mental Health under grant numbers
1-ZIA-MH002893-07 and 1-ZIA-MH002920-04. Ethics approval for this study
was granted by the NIH Combined Neuroscience Institutional Review Board
under protocol number 10-M-0027. We gratefully acknowledge the
Gates-Cambridge Trust and the NIH-Cambridge Fellowship (C.E.R.). S.B-C.
was supported by the MRC, the Autism Research Trust, and the Wellcome
Trust during the period of this work. We declare no competing financial
interests.
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NR 59
TC 4
Z9 4
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0006-8950
EI 1460-2156
J9 BRAIN
JI Brain
PD SEP
PY 2014
VL 137
BP 2588
EP 2599
DI 10.1093/brain/awu189
PN 9
PG 12
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AQ7LD
UT WOS:000342996000026
PM 25060095
ER
PT J
AU Daly, E
Ecker, C
Hallahan, B
Deeley, Q
Craig, M
Murphy, C
Johnston, P
Spain, D
Gillan, N
Gudbrandsen, M
Brammer, M
Giampietro, V
Lamar, M
Page, L
Toal, F
Schmitz, N
Cleare, A
Robertson, D
Rubia, K
Murphy, DGM
AF Daly, Eileen
Ecker, Christine
Hallahan, Brian
Deeley, Quinton
Craig, Michael
Murphy, Clodagh
Johnston, Patrick
Spain, Debbie
Gillan, Nicola
Gudbrandsen, Maria
Brammer, Michael
Giampietro, Vincent
Lamar, Melissa
Page, Lisa
Toal, Fiona
Schmitz, Nicole
Cleare, Anthony
Robertson, Dene
Rubia, Katya
Murphy, Declan G. M.
TI Response inhibition and serotonin in autism: a functional MRI study
using acute tryptophan depletion
SO BRAIN
LA English
DT Article
DE autistic spectrum disorder; impulsivity and inhibition disorders
ID EVENT-RELATED FMRI; SPECTRUM DISORDERS; BEHAVIORAL-INHIBITION;
REPETITIVE BEHAVIORS; NEURONAL RESPONSES; HEALTHY-VOLUNTEERS;
ASPERGERS-SYNDROME; STOP-SIGNAL; HUMAN-BRAIN; HUMANS
AB It has been suggested that the restricted, stereotyped and repetitive behaviours typically found in autism are underpinned by deficits of inhibitory control. The biological basis of this is unknown but may include differences in the modulatory role of neurotransmitters, such as serotonin, which are implicated in the condition. However, this has never been tested directly. We therefore assessed the modifying role of serotonin on inhibitory brain function during a Go/No-Go task in 14 adults with autism and normal intelligence and 14 control subjects that did not differ in gender, age and intelligence. We undertook a double-blind, placebo-controlled, crossover trial of acute tryptophan depletion using functional magnetic resonance imaging. Following sham, adults with autism relative to controls had reduced activation in key inhibitory regions of inferior frontal cortex and thalamus, but increased activation of caudate and cerebellum. However, brain activation was modulated in opposite ways by depletion in each group. Within autistic individuals depletion upregulated fronto-thalamic activations and downregulated striato-cerebellar activations toward control sham levels, completely 'normalizing' the fronto-cerebellar dysfunctions. The opposite pattern occurred in controls. Moreover, the severity of autism was related to the degree of differential modulation by depletion within frontal, striatal and thalamic regions. Our findings demonstrate that individuals with autism have abnormal inhibitory networks, and that serotonin has a differential, opposite, effect on them in adults with and without autism. Together these factors may partially explain the severity of autistic behaviours and/or provide a novel (tractable) treatment target.
C1 [Daly, Eileen; Ecker, Christine; Deeley, Quinton; Craig, Michael; Murphy, Clodagh; Johnston, Patrick; Spain, Debbie; Gillan, Nicola; Gudbrandsen, Maria; Toal, Fiona; Murphy, Declan G. M.] Kings Coll London, Sackler Inst Translat Neurodev, Dept Forens & Neurodev Sci, Inst Psychiat, London WC2R 2LS, England.
[Hallahan, Brian] Natl Univ Ireland, Dept Psychiat, Galway, Ireland.
[Brammer, Michael; Giampietro, Vincent] Kings Coll London, Dept Neuroimaging, Inst Psychiat, London WC2R 2LS, England.
[Lamar, Melissa] Univ Illinois, Dept Psychiat, Chicago, IL 60612 USA.
[Page, Lisa] Sussex Partnership NHS Fdn Trust, Brighton & Sussex Med Sch, Brighton, E Sussex, England.
[Schmitz, Nicole] UCL, Dementia Res Unit, Inst Neurol, London WC1E 6BT, England.
[Cleare, Anthony] Kings Coll London, Dept Psychol Med, Inst Psychiat, London WC2R 2LS, England.
[Robertson, Dene] South London & Maudsley NHS Fdn, Behav & Dev Clin Acad Grp, London, England.
[Rubia, Katya] Kings Coll London, Dept Child & Adolescent Psychiat, Inst Psychiat, London WC2R 2LS, England.
RP Daly, E (reprint author), IOP, Box 50,DeCrespigny Pk, London SE5 8AF, England.
EM eileen.daly@kcl.ac.uk
RI Ecker, Christine/E-5194-2010
FU Health Foundation; MRC UK AIMS [G0400061]; Innovative Medicines
Initiative Joint Undertaking from the EU [115300]; Biomedical Research
Centre for Mental Health-CD Cluster-Developmental Disorders, National
Institute for Health Research (NIHR) at South London and Maudsley NHS
Foundation Trust and King's College London; Dr Mortimer and Theresa
Sackler Foundation; Autism Speaks
FX The Health Foundation and the MRC UK AIMS (G0400061) sponsored the
study. We would also like to acknowledge the EU-AIMS (supported by the
Innovative Medicines Initiative Joint Undertaking under grant agreement
no. 115300, which includes financial contributions from the EU Seventh
Framework Programme (FP7/2007-2013) the Biomedical Research Centre for
Mental Health-CD Cluster-Developmental Disorders, National Institute for
Health Research (NIHR) at South London and Maudsley NHS Foundation Trust
and King's College London, The Dr Mortimer and Theresa Sackler
Foundation and Autism Speaks.
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NR 63
TC 3
Z9 3
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0006-8950
EI 1460-2156
J9 BRAIN
JI Brain
PD SEP
PY 2014
VL 137
BP 2600
EP 2610
DI 10.1093/brain/awu178
PN 9
PG 11
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AQ7LD
UT WOS:000342996000027
PM 25070512
ER
PT J
AU Devine, RT
Hughes, C
AF Devine, Rory T.
Hughes, Claire
TI Relations Between False Belief Understanding and Executive Function in
Early Childhood: A Meta-Analysis
SO CHILD DEVELOPMENT
LA English
DT Review
ID OF-MIND DEVELOPMENT; INHIBITORY CONTROL; INDIVIDUAL-DIFFERENCES;
LONGITUDINAL ANALYSIS; PRESCHOOL-CHILDREN; WORKING-MEMORY;
YOUNG-CHILDREN; SELF-CONTROL; DECEPTION; AUTISM
AB The association between executive function (EF) and theory of mind (ToM) has been hotly debated for 20years. Competing accounts focus on: task demands, conceptual overlap, or functional ties. Findings from this meta-analytic review of 102 studies (representing 9,994 participants aged 3-6years) indicate that the moderate association between EF and one key aspect of ToM, false belief understanding (FBU) is: (a) similar for children from different cultures, (b) largely consistent across distinct EF tasks, but varies across different types of false belief task, and (c) is asymmetric in that early individual differences in EF predict later variation in FBU but not vice versa. These findings support a hybrid emergence-expression account and highlight new directions for research.
C1 [Devine, Rory T.; Hughes, Claire] Univ Cambridge, Cambridge CB23RQ, England.
RP Devine, RT (reprint author), Univ Cambridge, Ctr Family Res, Dept Psychol, Free Sch Lane, Cambridge CB23RQ, England.
EM rtd24@cam.ac.uk
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NR 73
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0009-3920
EI 1467-8624
J9 CHILD DEV
JI Child Dev.
PD SEP-OCT
PY 2014
VL 85
IS 5
BP 1777
EP 1794
DI 10.1111/cdev.12237
PG 18
WC Psychology, Educational; Psychology, Developmental
SC Psychology
GA AQ5CF
UT WOS:000342820100002
PM 24605760
ER
PT J
AU Berry, R
Firth, G
Leeming, C
Sharma, V
AF Berry, Ruth
Firth, Graham
Leeming, Catherine
Sharma, Vishal
TI Clinical Psychologists' Views of Intensive Interaction as an
Intervention in Learning Disability Services
SO CLINICAL PSYCHOLOGY & PSYCHOTHERAPY
LA English
DT Article
DE Intensive Interaction; Psychology; Therapeutic; Learning Disabilities;
Inclusion; Development
AB Intensive Interaction was initially developed in the 1980s as an educational approach for developing social communication and engagement with people with severe or profound intellectual disabilities and/or autism. Intensive Interaction has subsequently been adopted by a range of practitioners and professionals working in learning disability services and has a broad multi-disciplinary acceptance, being recommended in a number of UK governmental guidance documents. Despite this, there has been limited work on developing a deeper psychological understanding of the approach. This study utilises a qualitative description/thematic analysis approach to explore how clinical psychologists conceptualise the approach with regard to currently accepted psychological theories, as well as looking at other factors that influence their adoption and advocacy. The sample deliberately consisted of eight NHS (National Health Service) clinical psychologists known to be using or advocating the use of Intensive Interaction with people with a learning disability. The results of this study indicate that although the participants referred to some theories that might explain the beneficial outcomes of Intensive Interaction, these theories were rarely explicitly or clearly referenced, resulting in the authors having to attribute specific theoretical positions on the basis of inductive analysis of the participants' responses. Moreover, the participants provided varying views on how Intensive Interaction might be conceptualised, highlighting the lack of a generally accepted, psychologically framed definition of the approach. In conclusion, it was felt that further research is required to develop a specifically psychological understanding of Intensive Interaction alongside the formation of a Special Interest Group, which might have this task as one of its aims. Copyright (c) 2013 John Wiley & Sons, Ltd.
C1 [Berry, Ruth; Firth, Graham; Leeming, Catherine; Sharma, Vishal] St Marys Hosp, Leeds & York Partnership NHS Fdn Trust, Learning Disabil Psychol Serv, Leeds LS12 3QE, W Yorkshire, England.
RP Firth, G (reprint author), St Marys Hosp, Leeds & York Partnership NHS Fdn Trust, Learning Disabil Psychol Serv, Greenhill Rd, Leeds LS12 3QE, W Yorkshire, England.
EM graham.firth@nhs.net
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NR 33
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1063-3995
EI 1099-0879
J9 CLIN PSYCHOL PSYCHOT
JI Clin. Psychol. Psychother.
PD SEP-OCT
PY 2014
VL 21
IS 5
BP 403
EP 410
DI 10.1002/cpp.1846
PG 8
WC Psychology, Clinical
SC Psychology
GA AQ6DG
UT WOS:000342897900003
PM 23696471
ER
PT J
AU D'Alessandro, G
Cremonesi, I
Alkhamis, N
Piana, G
AF D'Alessandro, G.
Cremonesi, I.
Alkhamis, N.
Piana, G.
TI Correlation between oral health in disabled children and depressive
symptoms in their mothers
SO EUROPEAN JOURNAL OF PAEDIATRIC DENTISTRY
LA English
DT Article
DE Disabled children; Major depression risk; Mothers of disabled children;
Son/daughter oral health
ID POSTNATAL DEPRESSION; MATERNAL DEPRESSION; MENTAL-RETARDATION;
DENTAL-CARIES; AUTISM; PARENTS; STRESS; FAMILIES; SCALE; INTERVENTION
AB Aim The aim of this study was to evaluate the presence and degree of depressive symptoms in mothers of disabled children and to assess the correlation between maternal major depression risk and son/daughter oral health.
Materials and methods A prospective study was conducted in 51 disabled children and their 51 mothers. In children dmft/DMFT values, food and/or sugar-sweetened consumption levels and daily tooth brushing frequency were evaluated. Depressive maternal symptoms were Measured by EDPS questionnaire: the questionnaire scores were converted into positive predictive values (PPV) that represented the risk of falling into major depression. A regression analysis was performed on the variables (statical significance was set at p value <= 0.05).
Results Children (8.68 +/- 3.98 years old) average dmft/DMFT was 2.7 Fifty three percent of the mothers (38.37 +/- 6.04 years) were at risk for depression (PPV>60%), while depressive symptoms were already present in 25% of the subjects (PPV=100%).
Discussion and conclusion Mothers of disabled Children are more likely to fall into major depression compared to mothers of healthy children. For each mother-child couple the correlation between different variables was evaluated: there was a statistically significant Correlation between children's dmft/ DMFT values and mothers' depression risk. The risk of maternal depression was statistically correlated to prevalence of caries and sugar consumption in children.
C1 [D'Alessandro, G.; Cremonesi, I.; Alkhamis, N.; Piana, G.] Univ Bologna, Alma Mater Studiorum, Sch Dent, Dept Biomed & Neuromotor Sci DIBINEM,Dent Speci, Bologna, Italy.
RP D'Alessandro, G (reprint author), Univ Bologna, Alma Mater Studiorum, Sch Dent, Dept Biomed & Neuromotor Sci DIBINEM,Dent Speci, Bologna, Italy.
EM dr.dalessandro@gmail.com
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NR 35
TC 0
Z9 0
PU ARIESDUE SRL
PI CARIMATE
PA VIA AIROLDI, CARIMATE, 11-22060, ITALY
SN 1591-996X
EI 2035-648X
J9 EUR J PAEDIATR DENT
JI Eur. J. Paediatr. Dent.
PD SEP
PY 2014
VL 15
IS 3
BP 303
EP 308
PG 6
WC Dentistry, Oral Surgery & Medicine; Pediatrics
SC Dentistry, Oral Surgery & Medicine; Pediatrics
GA AQ5VI
UT WOS:000342876300010
PM 25306149
ER
PT J
AU Mielnik, CA
Horsfall, W
Ramsey, AJ
AF Mielnik, C. A.
Horsfall, W.
Ramsey, A. J.
TI Diazepam improves aspects of social behaviour and neuron activation in
NMDA receptor-deficient mice
SO GENES BRAIN AND BEHAVIOR
LA English
DT Article
DE Antipsychotic; benzodiazepine; GABA; glutamate; neural substrate; NMDA;
social behaviour
ID VASOPRESSIN RECEPTOR; NEGATIVE SYMPTOMS; TASKS RELEVANT; GENETIC MODEL;
SCHIZOPHRENIA; EXPRESSION; AUTISM; HYPOFUNCTION; SOCIABILITY; AMYGDALA
AB NR1 knockdown (NR1KD) mice are genetically modified to express low levels of the NR1 subunit of N-methyl-d-aspartate (NMDA) receptors, and show deficits in affiliative social behaviour. In this study, we determined which brain regions were selectively activated in response to social stimulation and asked whether differences in neuronal activation could be observed in mice with reduced sociability. Furthermore, we aimed to determine whether brain activation patterns correlated with the amelioration of social deficits through pharmacological intervention. The cingulate cortex, lateral septal nuclei, hypothalamus, thalamus and amygdala showed an increase in c-Fos immunoreactivity that was selective for exposure to social stimuli. NR1KD mice displayed a reduction in social behaviour and a reduction in c-Fos immunoreactivity in the cingulate cortex and septal nuclei. Acute clozapine did not significantly alter sociability; however, diazepam treatment did increase sociability and neuronal activation in the lateral septal region. This study has identified the lateral septal region as a neural substrate of social behaviour and the GABA system as a potential therapeutic target for social dysfunction.
C1 [Mielnik, C. A.; Horsfall, W.; Ramsey, A. J.] Univ Toronto, Dept Pharmacol & Toxicol, Toronto, ON M5S 1A8, Canada.
RP Ramsey, AJ (reprint author), Univ Toronto, Dept Pharmacol & Toxicol, 1 Kings Coll Circle,Rm 4302,Med Sci Bldg, Toronto, ON M5S 1A8, Canada.
EM a.ramsey@utoronto.ca
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NR 35
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1601-1848
EI 1601-183X
J9 GENES BRAIN BEHAV
JI Genes Brain Behav.
PD SEP
PY 2014
VL 13
IS 7
BP 592
EP 602
DI 10.1111/gbb.12155
PG 11
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AQ5CY
UT WOS:000342823600002
PM 25040071
ER
PT J
AU Wade, M
Hoffmann, TJ
Wigg, K
Jenkins, JM
AF Wade, M.
Hoffmann, T. J.
Wigg, K.
Jenkins, J. M.
TI Association between the oxytocin receptor (OXTR) gene and children's
social cognition at 18 months
SO GENES BRAIN AND BEHAVIOR
LA English
DT Article
DE Child development; family-based association design; genetic association;
oxytocin receptor; social cognition; theory of mind
ID FAMILY-BASED ASSOCIATION; YOUNG-CHILDREN; HUMAN-BEHAVIOR; MIND; AUTISM;
HUMANS; VASOPRESSIN; BRAIN; POLYMORPHISMS; TEMPERAMENT
AB At 18 months, children engage in a variety of social behaviors that reflect their nascent ability to understand the intentions of other people (e.g. joint attention, empathy, cooperation and self-recognition). Although numerous contextual factors have been shown to predict social cognition in young children, the genetic underpinnings of social-cognitive traits has been understudied in this age group. Owing to the known effects of oxytocin on adult social cognition and psychopathology, this study hypothesized that variability in the oxytocin receptor gene (OXTR) would be associated with social cognition in children at 18 months. Participants consisted of 350 children (182 males; 168 females) who were part of an ongoing longitudinal study that aimed to assess environmental and genetic contributions to children's cognitive and socio-emotional functioning. At 18 months, social cognition was measured using previously validated and developmentally sensitive tasks assessing children's joint attention, empathy, cooperation and self-recognition. Five potentially functional OXTR variants were genotyped: rs1042778, rs2254298, rs11131149, rs237897 and rs237899. A family-based association design was used to control for population admixture and stratification, and additional non-genomic covariates were controlled. Results showed that variability in rs11131149 was significantly associated with social cognition (P=0.009), with more copies of the major allele related to higher social cognition, and more copies of the minor (risk) allele associated with lower social cognition. A haplotype consisting of rs11131149-rs2254298 was also associated with social cognition (P=0.020). Implications for normative and pathological development are discussed, and key areas for future research are proposed.
C1 [Wade, M.; Jenkins, J. M.] Univ Toronto, Dept Appl Psychol & Human Dev, Toronto, ON M5S 1V6, Canada.
[Hoffmann, T. J.] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA.
[Hoffmann, T. J.] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA.
[Wigg, K.] Toronto Western Res Inst, Genet & Dev Div, Toronto, ON, Canada.
RP Jenkins, JM (reprint author), Univ Toronto, Dept Appl Psychol & Human Dev, 252 Bloor St West, Toronto, ON M5S 1V6, Canada.
EM jenny.jenkins@utoronto.ca
FU Canadian Institutes of Health Research
FX We are grateful to the families who give so generously of their time, to
the Hamilton and Toronto Public Health Units for facilitating
recruitment of the sample, and to Mira Boskovic for project management.
The grant 'Transactional processes in emotional and behavioral
regulation: individuals in context' was awarded to Jennifer M. Jenkins
and Michael Boyle from the Canadian Institutes of Health Research and
covered data collection. The study team, beyond the current authors
includes: Cathy Barr, Kathy Georgiades, Greg Moran, Tom O'Connor, Michal
Perlman, Hildy Ross, Louis Schmidt. A special thank you goes to Cathy
Barr for her comments on earlier versions of this manuscript. The
authors have no conflicts of interest to declare.
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NR 62
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1601-1848
EI 1601-183X
J9 GENES BRAIN BEHAV
JI Genes Brain Behav.
PD SEP
PY 2014
VL 13
IS 7
BP 603
EP 610
DI 10.1111/gbb.12148
PG 8
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AQ5CY
UT WOS:000342823600003
PM 24916666
ER
PT J
AU Timimi, S
AF Timimi, S.
TI Children's behaviour problems: a NICE mess
SO INTERNATIONAL JOURNAL OF CLINICAL PRACTICE
LA English
DT Editorial Material
ID DISORDER; AUTISM
AB The potential harms of medicalisation are well known. A good illustration comes from the medicalisation of children's behaviour problems. National Institute for health and Clinical Excellence (NICE) guidelines on conditions such as Attention Deficit Hyperactivity Disorder (ADHD), Autistic Spectrum Disorder (ASD) and Conduct Disorder (CD) reflect how attempts to regulate medical practice in this area has spawned guidelines based more on wish fulfilment (that getting kids to behave themselves can be accomplished by simple technological interventions that exist independent of context) than scientific evidence. In this perspective piece, I explain why these NICE guidelines are more a reflection of cultural confusion about how to deal with children, than the outcome of sound scientific understanding in this area.
C1 [Timimi, S.] Lincolnshire Partnership NHSFT, Child Serv, Lincoln, England.
[Timimi, S.] Lincolnshire Partnership NHSFT, Family Serv, Lincoln, England.
RP Timimi, S (reprint author), Lincolnshire Partnership NHSFT, Child Serv, Lincoln, England.
EM stimimi@talk21.com
CR Baird G, 2011, BRIT MED J, V343, DOI 10.1136/bmj.d6360
Currie J, 2013, 19105 NBER
Hughes Virginia, 2012, Nature, V491, pS2
National Institute for Health and Clinical Excellence, 2013, ATT DEF HYP DIS ANT, V158
National Institute for Health and Clinical Excellence, 2008, ATT DEF HYP DIS DIAG
Santosh PJ, 2005, CLIN NEUROSCI RES, V5, P307, DOI 10.1016/j.cnr.2005.09.010
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Timimi S, 2010, MYTH AUTISM MEDICALI
Williams Sarah C P, 2012, Nature, V491, pS4
Williams SC, 2012, NATURE, V491, P7422
NR 11
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1368-5031
EI 1742-1241
J9 INT J CLIN PRACT
JI Int. J. Clin. Pract.
PD SEP
PY 2014
VL 68
IS 9
BP 1053
EP 1055
DI 10.1111/ijcp.12442
PG 3
WC Medicine, General & Internal; Pharmacology & Pharmacy
SC General & Internal Medicine; Pharmacology & Pharmacy
GA AQ4XV
UT WOS:000342805700003
PM 25196181
ER
PT J
AU Radley, KC
Jenson, WR
Clark, E
Hood, JA
Nicholas, P
AF Radley, Keith C.
Jenson, William R.
Clark, Elaine
Hood, Julia A.
Nicholas, Peter
TI Using a Multimedia Social Skills Intervention to Increase Social
Engagement of Young Children With Autism Spectrum Disorder
SO INTERVENTION IN SCHOOL AND CLINIC
LA English
DT Article
DE social; skills; early intervention; intervention(s); autism;
disabilities; preschool; early childhood
ID METAANALYSIS; PROGRAMS
AB Children with autism spectrum disorder (ASD) display impairments in social interactions and communication that appear at early ages. Fewer social engagements of children with ASD with peers often lead to long-term negative outcomes, such as social isolation and restricted language and cognitive skills. Although there is a clear need for social skills training for children with ASD, evidence-based practices are often not implemented for young children in school settings. The authors describe the Superheroes Social Skills program, a social skills intervention that combines multiple evidence-based practices, for use with young children with ASD. A case example is provided to describe the implementation and utility of the program for addressing social engagement skills of children with ASD and peers. Results of the case example suggest that the intervention contributed to greater engagement of children with ASD with peers during a free-play period.
C1 [Radley, Keith C.] Univ So Mississippi, Hattiesburg, MS 39406 USA.
[Jenson, William R.; Clark, Elaine; Hood, Julia A.] Univ Utah, Salt Lake City, UT USA.
[Nicholas, Peter] Carmen B Pingree Ctr Children Autism, Salt Lake City, UT USA.
RP Radley, KC (reprint author), Univ So Mississippi, Dept Psychol, 118 Coll Dr 5025, Hattiesburg, MS 39406 USA.
EM keith.radley@usm.edu
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NR 25
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1053-4512
EI 1538-4810
J9 INTERV SCH CLIN
JI Interv. Sch. Clin.
PD SEP
PY 2014
VL 50
IS 1
BP 22
EP 28
DI 10.1177/1053451214532350
PG 7
WC Education, Special
SC Education & Educational Research
GA AQ4TK
UT WOS:000342792400004
ER
PT J
AU Lillvis, DF
Kirkland, A
Frick, A
AF Lillvis, Denise F.
Kirkland, Anna
Frick, Anna
TI Power and Persuasion in the Vaccine Debates: An Analysis of Political
Efforts and Outcomes in the United States, 1998-2012
SO MILBANK QUARTERLY
LA English
DT Article
DE child; health legislation; United States; vaccination
ID SCHOOL IMMUNIZATION REQUIREMENTS; NONMEDICAL EXEMPTIONS; AUTISM;
POLICIES; CONTROVERSY; MERCURY
AB From 2011 to 2013, immunization proponents won significant legislative victories that tightened philosophical exemptions in Washington, Oregon, and California. Highlighting data on the high rates of unvaccinated children and subsequent, preventable infectious disease outbreaks has proven to be quite compelling to state lawmakers, especially when combined with physician expert testimony. Even vigorous protest from vaccine-critical organizations failed to defeat recent legislative wins when other political conditions were favorable. Our research suggests that immunization proponents have not been as active as they could be, and that much of the energy in pressing for new policies over the past 15 years has been on the vaccine-critical side of the aisle.
ContextThis article examines trends in state-level childhood vaccine policies in the United States from 1998 to 2012 and explains the trajectories for both vaccine-critical and proimmunization legislative efforts. Successful mobilization by vaccine critics during the height of the autism and thimerosal scares (roughly 1998 to 2003) yielded a few state-level expansions for the most permissive type of exemption from vaccine mandates for public school attendance, those based on personal beliefs. Vaccine-critical positions, however, have largely become discredited. How has vaccine critics' ability to advance preferred policies and prevent the passage of unfavorable legislation changed over time?
MethodsWe created a unique data set of childhood vaccine bills (n = 636), introduced from 1998 to 2012 across the 50 state legislatures, and coded them by type of effort (exemption, mandate, mercury ban, and information policies) and outcome. We then mapped out the trends in vaccine policies over time. In order to contextualize the trends we identified, we also reviewed numerous primary sources and conducted interviews with stakeholders.
FindingsIn general, we found that vaccine critics' legislative success has begun to wane. In only 20 bills in our data set were vaccine critics able to change policy in their preferred direction via the legislative process. Only 5 of those wins were significant (such as obtaining a new philosophical exemption to vaccine mandates), and the last of these was in 2007. Critics were more successful at preventing passage of proimmunization legislation, such as mandates for the human papillomavirus (HPV) vaccine.
ConclusionsRecent legislation in California, Oregon, and Washington that tightened philosophical exemptions by means of informational requirements suggests that vaccine politics may be entering another phase, one in which immunization supporters may be able to counter increasing opt-out rates, particularly in states with recent outbreaks and politicians favoring science-based policies.
C1 [Lillvis, Denise F.] Univ Michigan, Dept Hlth Management & Policy, Sch Publ Hlth, Ann Arbor, MI 48109 USA.
[Lillvis, Denise F.] Univ Michigan, Dept Polit Sci, Ann Arbor, MI 48109 USA.
[Lillvis, Denise F.; Frick, Anna] Univ Michigan, Sch Publ Hlth, Ann Arbor, MI 48109 USA.
RP Lillvis, DF (reprint author), Univ Michigan, Dept Hlth Management & Policy, Sch Publ Hlth, 1415 Washington Hts, Ann Arbor, MI 48109 USA.
EM dlillvis@umich.edu
CR Abiola SE, 2013, J HEALTH POLIT POLIC, V38, P645, DOI 10.1215/03616878-2208567
Adams M., 2012, NATURAL NEWS 1024
Advisory Commission on Childhood Vaccines (ACCV), 2002, 51 M ADV COMM CHILDH
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Heffter E., 2011, SEATTLE TIMES
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NR 34
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0887-378X
EI 1468-0009
J9 MILBANK Q
JI Milbank Q.
PD SEP
PY 2014
VL 92
IS 3
BP 475
EP 508
DI 10.1111/1468-0009.12075
PG 34
WC Health Care Sciences & Services; Health Policy & Services
SC Health Care Sciences & Services
GA AQ4HS
UT WOS:000342755200012
PM 25199897
ER
PT J
AU Orosco, LA
Ross, AP
Cates, SL
Scott, SE
Wu, D
Sohn, J
Pleasure, D
Pleasure, SJ
Adamopoulos, IE
Zarbalis, KS
AF Orosco, Lori A.
Ross, Adam P.
Cates, Staci L.
Scott, Sean E.
Wu, Dennis
Sohn, Jiho
Pleasure, David
Pleasure, Samuel J.
Adamopoulos, Iannis E.
Zarbalis, Konstantinos S.
TI Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting
aspects of the autism pathology
SO NATURE COMMUNICATIONS
LA English
DT Article
ID DE-NOVO MUTATIONS; INTERMEDIATE PROGENITOR CELLS; FRAGILE-X-SYNDROME;
SPECTRUM DISORDERS; MESSENGER-RNAS; STEM-CELLS; DEVELOPING NEOCORTEX;
NERVOUS-SYSTEM; NEURON NUMBER; RADIAL GLIA
AB Autism spectrum disorders (ASDs) are complex and heterogeneous developmental disabilities affecting an ever-increasing number of children worldwide. The diverse manifestations and complex, largely genetic aetiology of ASDs pose a major challenge to the identification of unifying neuropathological features. Here we describe the neuro-developmental defects in mice that carry deleterious alleles of the Wdfy3 gene, recently recognized as causative in ASDs. Loss of Wdfy3 leads to a regionally enlarged cerebral cortex resembling early brain overgrowth described in many children on the autism spectrum. In addition, affected mouse mutants display migration defects of cortical projection neurons, a recognized cause of epilepsy, which is significantly comorbid with autism. Our analysis of affected mouse mutants defines an important role for Wdfy3 in regulating neural progenitor divisions and neural migration in the developing brain. Furthermore, Wdfy3 is essential for cerebral expansion and functional organization while its loss-of-function results in pathological changes characteristic of ASDs.
C1 [Orosco, Lori A.; Ross, Adam P.; Cates, Staci L.; Scott, Sean E.] Univ Calif Davis, Dept Pathol & Lab Med, Sacramento, CA 95817 USA.
[Orosco, Lori A.; Ross, Adam P.; Cates, Staci L.; Scott, Sean E.; Wu, Dennis; Sohn, Jiho; Pleasure, David; Adamopoulos, Iannis E.; Zarbalis, Konstantinos S.] Shriners Hosp Children, Inst Pediat Regenerat Med, Sacramento, CA 95817 USA.
[Wu, Dennis; Adamopoulos, Iannis E.] Univ Calif Davis, Div Rheumatol Allergy & Clin Immunol, Dept Internal Med, Davis, CA 95616 USA.
[Pleasure, David] Univ Calif Davis, Dept Neurol, Sacramento, CA 95817 USA.
[Pleasure, David] Univ Calif Davis, Dept Pediat, Sacramento, CA 95817 USA.
[Pleasure, Samuel J.] Univ Calif San Francisco, UCSF Inst Regenerat Med, Dept Neurol, Program Neurosci,Sandler Neurosci Ctr, San Francisco, CA 94158 USA.
[Pleasure, Samuel J.] Univ Calif San Francisco, UCSF Inst Regenerat Med, Dept Neurol, Sandler Neurosci Ctr,Program Dev & Stem Cell Biol, San Francisco, CA 94158 USA.
RP Zarbalis, KS (reprint author), Univ Calif Davis, Dept Pathol & Lab Med, Sacramento, CA 95817 USA.
EM kzarbalis@ucdavis.edu
FU Shriners Hospitals for Children, NICHD [R21HD67855]; Simons Foundation
[286567]; Nancy Lurie Marks Family Foundation; Shriners Hospital for
Children Postdoctoral Fellowship Grant; NIH [U01HG004085]; CSD
Consortium [U01HG004080]; KOMP Repository at UC Davis and CHORI
[U42RR024244]; SFARI [286567]
FX This study was funded by Shriners Hospitals for Children, NICHD
R21HD67855 to KSZ, the Simons Foundation with SFARI 286567 to KSZ, and
the Nancy Lurie Marks Family Foundation to KSZ as well as a Shriners
Hospital for Children Postdoctoral Fellowship Grant to LAO. We would
particularly like to thank Drs Matthew State and Michael Wigler for
helpful advice and sharing data with us before publication. We would
like to thank Drs Leah Krubitzer, Stephen Noctor and Veronica Martinez
Cerdeno for support and helpful discussions during the course of this
project as well as Katie Yerocostas and Danielle Brill-Lehn for
technical assistance. NIH grants to Velocigene at Regeneron Inc.
(U01HG004085) and the CSD Consortium (U01HG004080) funded the generation
of gene-targeted ES cells for 8,500 genes in the KOMP Program and
archived and distributed by the KOMP Repository at UC Davis and CHORI
(U42RR024244). For more information or to obtain KOMP products go to
www.komp.org or email service@komp.org.
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NR 70
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2041-1723
J9 NAT COMMUN
JI Nat. Commun.
PD SEP
PY 2014
VL 5
AR 4692
DI 10.1038/ncomms5692
PG 13
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AQ5HO
UT WOS:000342838800002
PM 25198012
ER
PT J
AU St Pourcain, B
Cents, RAM
Whitehouse, AJO
Haworth, CMA
Davis, OSP
O'Reilly, PF
Roulstone, S
Wren, Y
Ang, QW
Velders, FP
Evans, DM
Kemp, JP
Warrington, NM
Miller, L
Timpson, NJ
Ring, SM
Verhulst, FC
Hofman, A
Rivadeneira, F
Meaburn, EL
Price, TS
Dale, PS
Pillas, D
Yliherva, A
Rodriguez, A
Golding, J
Jaddoe, VWV
Jarvelin, MR
Plomin, R
Pennell, CE
Tiemeier, H
Smith, GD
AF St Pourcain, Beate
Cents, Rolieke A. M.
Whitehouse, Andrew J. O.
Haworth, Claire M. A.
Davis, Oliver S. P.
O'Reilly, Paul F.
Roulstone, Susan
Wren, Yvonne
Ang, Qi W.
Velders, Fleur P.
Evans, David M.
Kemp, John P.
Warrington, Nicole M.
Miller, Laura
Timpson, Nicholas J.
Ring, Susan M.
Verhulst, Frank C.
Hofman, Albert
Rivadeneira, Fernando
Meaburn, Emma L.
Price, Thomas S.
Dale, Philip S.
Pillas, Demetris
Yliherva, Anneli
Rodriguez, Alina
Golding, Jean
Jaddoe, Vincent W. V.
Jarvelin, Marjo-Riitta
Plomin, Robert
Pennell, Craig E.
Tiemeier, Henning
Smith, George Davey
TI Common variation near ROBO2 is associated with expressive vocabulary in
infancy
SO NATURE COMMUNICATIONS
LA English
DT Article
ID GENOME-WIDE ASSOCIATION; LANGUAGE-DEVELOPMENT SURVEY; AXON-GUIDANCE
RECEPTORS; GENE-EXPRESSION; MIDLINE; AUTISM; TOOL; CHROMOSOME-3;
ENHANCERS; GENOTYPES
AB Twin studies suggest that expressive vocabulary at similar to 24 months is modestly heritable. However, the genes influencing this early linguistic phenotype are unknown. Here we conduct a genome-wide screen and follow-up study of expressive vocabulary in toddlers of European descent from up to four studies of the EArly Genetics and Lifecourse Epidemiology consortium, analysing an early (15-18 months, 'one-word stage', N-Total = 8,889) and a later (24-30 months, 'two-word stage', N-Total = 10,819) phase of language acquisition. For the early phase, one single-nucleotide polymorphism (rs7642482) at 3p12.3 near ROBO2, encoding a conserved axon-binding receptor, reaches the genome-wide significance level (P = 1.3 x 10(-8)) in the combined sample. This association links language-related common genetic variation in the general population to a potential autism susceptibility locus and a linkage region for dyslexia, speech-sound disorder and reading. The contribution of common genetic influences is, although modest, supported by genome-wide complex trait analysis (meta-GCTA h(5-18-months)(2) = 0.13, meta-GCTA h(24-30-months)(2) = 0.14) and in concordance with additional twin analysis (5,733 pairs of European descent, h(24-months)(2) = 0.20).
C1 [St Pourcain, Beate; Evans, David M.; Kemp, John P.; Timpson, Nicholas J.; Ring, Susan M.; Smith, George Davey] Univ Bristol, MRC, Integrat Epidemiol Unit, Bristol BS8 2BN, Avon, England.
[St Pourcain, Beate] Univ Bristol, Sch Oral & Dent Sci, Bristol BS1 2LY, Avon, England.
[St Pourcain, Beate] Univ Bristol, Sch Expt Psychol, Bristol BS8 1TU, Avon, England.
[Cents, Rolieke A. M.; Velders, Fleur P.; Jaddoe, Vincent W. V.] Erasmus MC Univ, Med Ctr, Generat R Study Grp, NL-3000 CA Rotterdam, Netherlands.
[Cents, Rolieke A. M.; Velders, Fleur P.; Verhulst, Frank C.; Tiemeier, Henning] Erasmus MC Univ, Med Ctr, Dept Child & Adolescent Psychiat Psychol, NL-3000 CB Rotterdam, Netherlands.
[Whitehouse, Andrew J. O.] Univ Western Australia, Ctr Child Hlth Res, Telethon Kids Inst, Subiaco, WA 6008, Australia.
[Haworth, Claire M. A.] Univ Warwick, Dept Psychol, Coventry CV4 7AL, W Midlands, England.
[Haworth, Claire M. A.; Davis, Oliver S. P.; O'Reilly, Paul F.; Plomin, Robert] Kings Coll London, Inst Psychiat, Social Genet & Dev Psychiat Ctr, MRC, London SE5 8AF, England.
[Davis, Oliver S. P.] UCL, UCL Genet Inst, Dept Genet Evolut & Environm, London WC1E 6BT, England.
[O'Reilly, Paul F.; Pillas, Demetris; Rodriguez, Alina; Jarvelin, Marjo-Riitta] Univ London Imperial Coll Sci Technol & Med, Sch Publ Hlth, Ctr Environm & Hlth, Dept Epidemiol & Biostat,MRC,Publ Hlth England, London W2 1PG, England.
[Roulstone, Susan; Wren, Yvonne] Univ W England, Frenchay Hosp, Bristol Speech & Language Therapy Res Unit, Bristol BS16 1LE, Avon, England.
[Ang, Qi W.; Warrington, Nicole M.; Pennell, Craig E.] Univ Western Australia, Sch Womens & Infants Hlth, Subiaco, WA 6008, Australia.
[Evans, David M.; Kemp, John P.; Miller, Laura; Timpson, Nicholas J.; Ring, Susan M.; Golding, Jean; Smith, George Davey] Univ Bristol, Sch Social & Community Med, Bristol BS8 2PS, Avon, England.
[Evans, David M.; Kemp, John P.; Warrington, Nicole M.] Univ Queensland, Translat Res Inst, Diamantina Inst, Woolloongabba, Qld 4102, Australia.
[Hofman, Albert; Rivadeneira, Fernando; Jaddoe, Vincent W. V.; Tiemeier, Henning] Erasmus MC Univ, Med Ctr, Dept Epidemiol, NL-3000 CA Rotterdam, Netherlands.
[Rivadeneira, Fernando] Erasmus MC Univ, Med Ctr, Dept Internal Med, NL-3000 CA Rotterdam, Netherlands.
[Meaburn, Emma L.] Univ London, Dept Psychol Sci, London WC1E 7HX, England.
[Price, Thomas S.] Univ Penn, Sch Med, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USA.
[Dale, Philip S.] Univ New Mexico, Dept Speech & Hearing Sci, Albuquerque, NM 87131 USA.
[Yliherva, Anneli] Univ Oulu, Fac Humanities, Child Language Res Ctr, Oulu 90014, Finland.
[Rodriguez, Alina] Mid Sweden Univ, Dept Psychol, Mittuniv, S-83125 Ostersund, Sweden.
[Jaddoe, Vincent W. V.] Erasmus MC Univ, Med Ctr, Dept Pediat, NL-3000 CB Rotterdam, Netherlands.
[Jarvelin, Marjo-Riitta] Oulu Univ Hosp, Unit Primary Care, FI-90220 Oulu, Finland.
[Jarvelin, Marjo-Riitta] Natl Inst Hlth & Welf, Dept Children & Young People & Families, FI-90101 Oulu, Finland.
[Jarvelin, Marjo-Riitta] Univ Oulu, Inst Hlth Sci, FI-90014 Oulu, Finland.
[Jarvelin, Marjo-Riitta] Univ Oulu, Bioctr Oulu, FI-90014 Oulu, Finland.
RP St Pourcain, B (reprint author), Univ Bristol, MRC, Integrat Epidemiol Unit, Oakfield House,15-23 Oakfield Grove, Bristol BS8 2BN, Avon, England.
EM Beate.StPourcain@bristol.ac.uk
RI Price, Thomas/B-7372-2008; Dale, Philip/A-2254-2009; Warrington,
Nicole/P-4868-2014
OI Price, Thomas/0000-0001-7356-2109; Dale, Philip/0000-0002-7697-8510;
Warrington, Nicole/0000-0003-4195-775X
FU UK Medical Research Council; Wellcome Trust [092731]; Medical Research
Council Integrative Epidemiology Unit [MC_UU_12013/1-9]; Medical
Research Council New Investigator Award [MRCG0800582]; Autism Speaks
[7132]; Wellcome Trust 4-year PhD studentship [WT083431MA]; 23andMe
FX We are extremely grateful to all the families who took part in this
study, the midwives for their help in recruiting them and the whole
ALSPAC team, which includes interviewers, computer and laboratory
technicians, clerical workers, research scientists, volunteers,
managers, receptionists and nurses. The UK Medical Research Council and
the Wellcome Trust (Grant ref: 092731) and the University of Bristol
provide core support for ALSPAC. ALSPAC GWAS data were generated by the
Sample Logistics and Genotyping Facilities at the Wellcome Trust Sanger
Institute and LabCorp (Laboratory Corporation of America) using funding
from 23andMe. This work was also supported by the Medical Research
Council Integrative Epidemiology Unit (MC_UU_12013/1-9). D.M.E. is
supported by a Medical Research Council New Investigator Award
(MRCG0800582 to D.M.E.). J.P.K. is funded by a Wellcome Trust 4-year PhD
studentship (WT083431MA). B.S.P. is supported by an Autism Speaks grant
(7132). This publication is the work of the authors and they will serve
as guarantors for the contents of this paper.
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NR 66
TC 5
Z9 5
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2041-1723
J9 NAT COMMUN
JI Nat. Commun.
PD SEP
PY 2014
VL 5
AR 4831
DI 10.1038/ncomms5831
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AQ6ND
UT WOS:000342929300002
PM 25226531
ER
PT J
AU Wang, CJ
Chung, BC
Yan, HD
Wang, HG
Lee, SY
Pitt, GS
AF Wang, Chaojian
Chung, Ben C.
Yan, Haidun
Wang, Hong-Gang
Lee, Seok-Yong
Pitt, Geoffrey S.
TI Structural analyses of Ca2+/CaM interaction with NaV channel C-termini
reveal mechanisms of calcium-dependent regulation
SO NATURE COMMUNICATIONS
LA English
DT Article
ID GATED SODIUM-CHANNEL; DE-NOVO MUTATIONS; INHERITED CARDIAC-ARRHYTHMIA;
FACTOR HOMOLOGOUS FACTORS; SOLUTION NMR STRUCTURE; EF-HAND DOMAIN;
CRYSTAL-STRUCTURE; NEURONAL EXCITABILITY; FAST INACTIVATION; BRUGADA
SYNDROME
AB Ca2+ regulates voltage-gated Na+ (Na-V) channels, and perturbed Ca2+ regulation of Na-V function is associated with epilepsy syndromes, autism and cardiac arrhythmias. Understanding the disease mechanisms, however, has been hindered by a lack of structural information and competing models for how Ca2+ affects Na-V channel function. Here we report the crystal structures of two ternary complexes of a human Na-V cytosolic C-terminal domain (CTD), a fibroblast growth factor homologous factor and Ca2+ /calmodulin (Ca2+ /CaM). These structures rule out direct binding of Ca2+ to the Na-V CTD and uncover new contacts between CaM and the Na-V CTD. Probing these new contacts with biochemical and functional experiments allows us to propose a mechanism by which Ca2+ could regulate Na-V channels. Further, our model provides hints towards understanding the molecular basis of the neurologic disorders and cardiac arrhythmias caused by Na-V channel mutations.
C1 [Wang, Chaojian; Chung, Ben C.; Yan, Haidun; Wang, Hong-Gang; Lee, Seok-Yong; Pitt, Geoffrey S.] Duke Univ, Med Ctr, Dept Med, Ion Channel Res Unit, Durham, NC 27710 USA.
[Wang, Chaojian; Yan, Haidun; Wang, Hong-Gang; Pitt, Geoffrey S.] Duke Univ, Med Ctr, Dept Med, Div Cardiol, Durham, NC 27710 USA.
[Chung, Ben C.; Lee, Seok-Yong] Duke Univ, Med Ctr, Dept Biochem, Durham, NC 27710 USA.
[Pitt, Geoffrey S.] Duke Univ, Med Ctr, Dept Pharmacol, Durham, NC 27710 USA.
RP Lee, SY (reprint author), Duke Univ, Med Ctr, Dept Med, Ion Channel Res Unit, 2 Genome Court, Durham, NC 27710 USA.
EM sylee@biochem.duke.edu; geoffrey.pitt@duke.edu
FU NHLBI [R01 HL71165, HL113136]; American Heart Association Established
Investigator Award; Duke University Medical Center; Basil O'Connor
Starter Scholar Research Award from the March of Dimes foundation
[5-FY10-473]; N.I.H. Director's New Innovator Award [1 DP2 OD008380-01]
FX Data for this study were collected at beam lines NE-CAT ID 24-C and
SER-CAT BM22/ID22 and at the Advanced Photon Source and the Duke X-ray
Crystallography Facility. We thank R. Brennan, M. Schumacher and P. Zhou
for providing access to their ITC machines; C. Pemble for help with
remote data collection. This work was supported by NHLBI R01 HL71165 and
HL113136 (G. S. P.) and American Heart Association Established
Investigator Award (G. S. P.); start-up funds from the Duke University
Medical Center (S.-Y.L.), the Basil O'Connor Starter Scholar Research
Award 5-FY10-473 from the March of Dimes foundation (S.-Y.L.), the
N.I.H. Director's New Innovator Award 1 DP2 OD008380-01 (S.-Y.L.).
S.-Y.L. is a McKnight Scholar, Klingenstein fellow, Alfred P. Sloan
Research fellow, Mallinckrodt Scholar and Whitehead Scholar.
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NR 62
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2041-1723
J9 NAT COMMUN
JI Nat. Commun.
PD SEP
PY 2014
VL 5
AR 4896
DI 10.1038/ncomms5896
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AQ7HP
UT WOS:000342983700003
PM 25232683
ER
PT J
AU Godman, M
Nagatsu, M
Salmela, M
AF Godman, Marion
Nagatsu, Michiru
Salmela, Mikko
TI The Social Motivation Hypothesis for Prosocial Behavior
SO PHILOSOPHY OF THE SOCIAL SCIENCES
LA English
DT Article
DE social motivation; pro-social behavior; fellow-feeling; social norms;
team reasoning
ID INTERPERSONAL SYNCHRONY; YOUNG-CHILDREN; JOINT ACTION; COOPERATION;
IMITATION; AUTISM; EXPECTATIONS; ATTACHMENTS; AFFILIATION; PERCEPTION
AB Existing economic models of prosociality have been rather silent in terms of proximate psychological mechanisms. We nevertheless identify the psychologically most informed accounts and offer a critical discussion of their hypotheses for the proximate psychological explanations. Based on convergent evidence from several fields of research, we argue that there nevertheless is a more plausible alternative proximate account available: the social motivation hypothesis. The hypothesis represents a more basic explanation of the appeal of prosocial behavior, which is in terms of anticipated social rewards. We also argue in favor of our own social motivation hypothesis over Robert Sugden's fellow-feeling account (due originally to Adam Smith). We suggest that social motivation not only stands as a proximate account in its own right but also provides a plausible scaffold for other more sophisticated motivations (e.g., fellow-feelings). We conclude by discussing some possible implications of the social motivation hypothesis on existing modeling practice.
C1 [Godman, Marion] Univ Helsinki, Acad Finland Ctr Excellence Philosophy Social Sci, FIN-00014 Helsinki, Finland.
[Nagatsu, Michiru] Univ Helsinki, TINT, FIN-00014 Helsinki, Finland.
[Salmela, Mikko] Univ Helsinki, FIN-00014 Helsinki, Finland.
[Godman, Marion] Univ Cambridge, Hist & Philosophy Sci Dept, Cambridge, England.
RP Nagatsu, M (reprint author), Univ Helsinki, Dept Polit & Econ Studies, PL 24 Unioninkatu 40, FIN-00014 Helsinki, Finland.
EM michiru.nagatsu@helsinki.fi
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NR 67
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0048-3931
EI 1552-7441
J9 PHILOS SOC SCI
JI Philos. Soc. Sci.
PD SEP
PY 2014
VL 44
IS 5
SI SI
BP 563
EP 587
DI 10.1177/0048393114530841
PG 25
WC Ethics; Philosophy
SC Social Sciences - Other Topics; Philosophy
GA AQ4VJ
UT WOS:000342797900001
ER
PT J
AU Avet-Rochex, A
Carvajal, N
Christoforou, CP
Yeung, K
Maierbrugger, KT
Hobbs, C
Lalli, G
Cagin, U
Plachot, C
McNeill, H
Bateman, JM
AF Avet-Rochex, Amelie
Carvajal, Nancy
Christoforou, Christina P.
Yeung, Kelvin
Maierbrugger, Katja T.
Hobbs, Carl
Lalli, Giovanna
Cagin, Umut
Plachot, Cedric
McNeill, Helen
Bateman, Joseph M.
TI Unkempt Is Negatively Regulated by mTOR and Uncouples Neuronal
Differentiation from Growth Control
SO PLOS GENETICS
LA English
DT Article
ID TUBEROUS SCLEROSIS COMPLEX; DROSOPHILA-MELANOGASTER; SIGNALING PATHWAY;
CELL-GROWTH; MAMMALIAN TARGET; INSULIN RECEPTOR/TARGET; OLFACTORY
MICRONODULES; FINGER PROTEIN; RAPAMYCIN; NEUROGENESIS
AB Neuronal differentiation is exquisitely controlled both spatially and temporally during nervous system development. Defects in the spatiotemporal control of neurogenesis cause incorrect formation of neural networks and lead to neurological disorders such as epilepsy and autism. The mTOR kinase integrates signals from mitogens, nutrients and energy levels to regulate growth, autophagy and metabolism. We previously identified the insulin receptor (InR)/mTOR pathway as a critical regulator of the timing of neuronal differentiation in the Drosophila melanogaster eye. Subsequently, this pathway has been shown to play a conserved role in regulating neurogenesis in vertebrates. However, the factors that mediate the neurogenic role of this pathway are completely unknown. To identify downstream effectors of the InR/mTOR pathway we screened transcriptional targets of mTOR for neuronal differentiation phenotypes in photoreceptor neurons. We identified the conserved gene unkempt (unk), which encodes a zinc finger/RING domain containing protein, as a negative regulator of the timing of photoreceptor differentiation. Loss of unk phenocopies InR/mTOR pathway activation and unk acts downstream of this pathway to regulate neurogenesis. In contrast to InR/mTOR signalling, unk does not regulate growth. unk therefore uncouples the role of the InR/mTOR pathway in neurogenesis from its role in growth control. We also identified the gene headcase (hdc) as a second downstream regulator of the InR/mTOR pathway controlling the timing of neurogenesis. Unk forms a complex with Hdc, and Hdc expression is regulated by unk and InR/mTOR signalling. Co-overexpression of unk and hdc completely suppresses the precocious neuronal differentiation phenotype caused by loss of Tsc1. Thus, Unk and Hdc are the first neurogenic components of the InR/mTOR pathway to be identified. Finally, we show that Unkempt-like is expressed in the developing mouse retina and in neural stem/progenitor cells, suggesting that the role of Unk in neurogenesis may be conserved in mammals.
C1 [Avet-Rochex, Amelie; Carvajal, Nancy; Christoforou, Christina P.; Maierbrugger, Katja T.; Hobbs, Carl; Lalli, Giovanna; Cagin, Umut; Bateman, Joseph M.] Kings Coll London, Wolfson Ctr Age Related Dis, London, England.
[Yeung, Kelvin; Plachot, Cedric; McNeill, Helen] Lunenfeld Tanenbaum Res Ctr, Toronto, ON, Canada.
RP Avet-Rochex, A (reprint author), Univ Lyon 1, CNRS, Ctr Genet & Physiol Mol & Cellulaire, UMR 5534, F-69622 Villeurbanne, France.
EM joseph_matthew.bateman@kcl.ac.uk
RI McNeill, Helen/E-4579-2013
OI McNeill, Helen/0000-0003-1126-5154
FU King's College London; Wellcome Trust [WT088460MA, WT089622MA]; Canadian
Institutes of Health Research [FRN 102656, 97933]
FX The work was funded by King's College London, The Wellcome Trust
(WT088460MA and WT089622MA, http://www.wellcome.ac.uk/) and the Canadian
Institutes of Health Research (FRN 102656 and 97933,
http://www.cihr-irsc.gc.ca/e/193.html). The funders had no role in study
design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 52
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1553-7390
EI 1553-7404
J9 PLOS GENET
JI PLoS Genet.
PD SEP
PY 2014
VL 10
IS 9
AR e1004624
DI 10.1371/journal.pgen.1004624
PG 14
WC Genetics & Heredity
SC Genetics & Heredity
GA AQ7OY
UT WOS:000343009600042
PM 25210733
ER
PT J
AU Leblond, CS
Nava, C
Polge, A
Gauthier, J
Huguet, G
Lumbroso, S
Giuliano, F
Stordeur, C
Depienne, C
Mouzaf, K
Pinto, D
Howe, J
Lemiere, N
Durand, CM
Guibert, J
Ey, E
Toro, R
Peyre, H
Mathieu, A
Amsellem, F
Rastam, M
Gillberg, IC
Rappold, GA
Holt, R
Monaco, AP
Maestrini, E
Galan, P
Heron, D
Jacquette, A
Afenjar, A
Rastetter, A
Brice, A
Devillard, F
Assouline, B
Laffargue, F
Lespinasse, J
Chiesa, J
Rivier, F
Bonneau, D
Regnault, B
Zelenika, D
Delepine, M
Lathrop, M
Sanlaville, D
Schluth-Bolard, C
Edery, P
Perrin, L
Tabet, AC
Schmeisser, MJ
Boeckers, TM
Coleman, M
Sato, D
Szatmari, P
Scherer, SW
Rouleau, GA
Betancur, C
Leboyer, M
Gillberg, C
Delorme, R
Bourgeron, T
AF Leblond, Claire S.
Nava, Caroline
Polge, Anne
Gauthier, Julie
Huguet, Guillaume
Lumbroso, Serge
Giuliano, Fabienne
Stordeur, Coline
Depienne, Christel
Mouzaf, Kevin
Pinto, Dalila
Howe, Jennifer
Lemiere, Nathalie
Durand, Christelle M.
Guibert, Jessica
Ey, Elodie
Toro, Roberto
Peyre, Hugo
Mathieu, Alexandre
Amsellem, Frederique
Rastam, Maria
Gillberg, I. Carina
Rappold, Gudrun A.
Holt, Richard
Monaco, Anthony P.
Maestrini, Elena
Galan, Pilar
Heron, Delphine
Jacquette, Aurelia
Afenjar, Alexandra
Rastetter, Agnes
Brice, Alexis
Devillard, Francoise
Assouline, Brigitte
Laffargue, Fanny
Lespinasse, James
Chiesa, Jean
Rivier, Francois
Bonneau, Dominique
Regnault, Beatrice
Zelenika, Diana
Delepine, Marc
Lathrop, Mark
Sanlaville, Damien
Schluth-Bolard, Caroline
Edery, Patrick
Perrin, Laurence
Tabet, Anne Claude
Schmeisser, Michael J.
Boeckers, Tobias M.
Coleman, Mary
Sato, Daisuke
Szatmari, Peter
Scherer, Stephen W.
Rouleau, Guy A.
Betancur, Catalina
Leboyer, Marion
Gillberg, Christopher
Delorme, Richard
Bourgeron, Thomas
TI Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A
Gradient of Severity in Cognitive Impairments
SO PLOS GENETICS
LA English
DT Article
ID DE-NOVO MUTATIONS; COPY NUMBER VARIATION; SCAFFOLDING PROTEIN SHANK3;
22Q13 DELETION SYNDROME; SYNAPTIC-TRANSMISSION; DIAGNOSTIC INTERVIEW;
MUTANT MICE; GENE; BEHAVIORS; REARRANGEMENTS
AB SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with autism spectrum disorders (ASD), but their prevalence and clinical relevance remain to be determined. Here, we performed a new screen and a meta-analysis of SHANK copy-number and coding-sequence variants in ASD. Copy-number variants were analyzed in 5,657 patients and 19,163 controls, coding-sequence variants were ascertained in 760 to 2,147 patients and 492 to 1,090 controls (depending on the gene), and, individuals carrying de novo or truncating SHANK mutations underwent an extensive clinical investigation. Copy-number variants and truncating mutations in SHANK genes were present in similar to 1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. In summary, mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment. Given the rare frequency of SHANK1 and SHANK2 deleterious mutations, the clinical relevance of these genes remains to be ascertained. In contrast, the frequency and the penetrance of SHANK3 mutations in individuals with ASD and intellectual disability-more than 1 in 50-warrant its consideration for mutation screening in clinical practice.
C1 [Leblond, Claire S.; Huguet, Guillaume; Stordeur, Coline; Lemiere, Nathalie; Durand, Christelle M.; Guibert, Jessica; Ey, Elodie; Toro, Roberto; Mathieu, Alexandre; Amsellem, Frederique; Delorme, Richard; Bourgeron, Thomas] Inst Pasteur, Human Genet & Cognit Funct Unit, Paris, France.
[Leblond, Claire S.; Huguet, Guillaume; Stordeur, Coline; Lemiere, Nathalie; Durand, Christelle M.; Guibert, Jessica; Ey, Elodie; Toro, Roberto; Mathieu, Alexandre; Delorme, Richard; Bourgeron, Thomas] Inst Pasteur, CNRS UMR Genes Synapses & Cognit 3571, Paris, France.
[Leblond, Claire S.; Huguet, Guillaume; Stordeur, Coline; Lemiere, Nathalie; Durand, Christelle M.; Guibert, Jessica; Ey, Elodie; Toro, Roberto; Mathieu, Alexandre; Delorme, Richard; Bourgeron, Thomas] Univ Paris Diderot, Sorbonne Paris Cite, Paris, France.
[Nava, Caroline; Depienne, Christel; Rastetter, Agnes; Brice, Alexis] Hop La Pitie Salpetriere, INSERM CRICM U975, Inst Cerveau & Moelle Epiniere ICM, CNRS CRICM 7225, Paris, France.
[Nava, Caroline; Depienne, Christel; Rastetter, Agnes; Brice, Alexis; Betancur, Catalina] Univ Paris 06, Univ Paris 04, Paris, France.
[Nava, Caroline; Depienne, Christel; Rastetter, Agnes; Brice, Alexis] UMR S 975, Paris, France.
[Polge, Anne; Lumbroso, Serge; Mouzaf, Kevin] CHU Nimes, Biochim Lab, Nimes, France.
[Gauthier, Julie] CHU St Justine, Mol Diagnost Lab, Montreal, PQ, Canada.
[Gauthier, Julie] CHU St Justine, Div Med Genet, Montreal, PQ, Canada.
[Giuliano, Fabienne] Nice Teaching Hosp, Dept Med Genet, Nice, France.
[Stordeur, Coline; Amsellem, Frederique; Delorme, Richard] Robert Debre Hosp, AP HP, Dept Child & Adolescent Psychiat, Paris, France.
[Pinto, Dalila] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, Seaver Autism Ctr, Dept Psychiat, New York, NY 10029 USA.
[Pinto, Dalila] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, Seaver Autism Ctr, Dept Genet, New York, NY 10029 USA.
[Pinto, Dalila] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, Seaver Autism Ctr, Dept Genom Sci, New York, NY 10029 USA.
[Howe, Jennifer; Sato, Daisuke; Szatmari, Peter; Scherer, Stephen W.] Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1X8, Canada.
[Howe, Jennifer; Sato, Daisuke; Szatmari, Peter; Scherer, Stephen W.] Univ Toronto, McLaughlin Ctr, Toronto, ON M5G 1X8, Canada.
[Peyre, Hugo] Ecole Normale Super, CNRS, EHESS, Lab Sci Cognit & Psycholinguist, Paris, France.
[Amsellem, Frederique; Leboyer, Marion; Delorme, Richard; Bourgeron, Thomas] FondaMental Fdn, Creteil, France.
[Rastam, Maria] Lund Univ, Dept Clin Sci Lund, Lund, Sweden.
[Gillberg, I. Carina; Gillberg, Christopher] Univ Gothenburg, Gillberg Neuropsychiat Ctr, Gothenburg, Sweden.
[Rappold, Gudrun A.] Heidelberg Univ, Dept Human Mol Genet, Heidelberg, Germany.
[Holt, Richard; Monaco, Anthony P.] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England.
[Maestrini, Elena] Univ Bologna, Dept Pharm & Biotechnol, Bologna, Italy.
[Galan, Pilar] Univ Paris 13, Nutrit Epidemiol Res Unit, INSERM U557, INRA U1125,CNAM,CRNH IdF, Bobigny, France.
[Heron, Delphine; Jacquette, Aurelia; Afenjar, Alexandra] Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Unite Fonct Genet Clin, Paris, France.
[Heron, Delphine; Jacquette, Aurelia; Afenjar, Alexandra] Ctr Reference Deficiences Intellectuelles Causes, Paris, France.
[Heron, Delphine; Jacquette, Aurelia; Afenjar, Alexandra] UPMC, Grp Rech Clin Deficience Intellectuelle & Autisme, Paris, France.
[Heron, Delphine; Afenjar, Alexandra] Hop Armand Trousseau, AP HP, Serv Neuropediat, Paris, France.
[Devillard, Francoise] Hop Couple Enfant, Dept Genet & Procreat, Grenoble, France.
[Assouline, Brigitte] Ctr Ressources Autisme Rhone Alpes, CADIPA, St Egreve, France.
[Laffargue, Fanny] Ctr Hosp Univ Estaing, Serv Genet Med, Clermont Ferrand, France.
[Lespinasse, James] Ctr Hosp Chambery, Hotel Dieu, UF Genet Chromosom, Chambery, France.
[Chiesa, Jean] Hop Caremeau, UF Cytogenet & Genet Med, Nimes, France.
[Rivier, Francois] CHRU Montpellier, Neuropediat CR Malad Neuromusculaires, Montpellier, France.
[Rivier, Francois] Univ Montpellier 1 & 2, INSERM, U1046, Montpellier, France.
[Bonneau, Dominique] LUNAM Univ, INSERM U1083, Angers, France.
[Bonneau, Dominique] CNRS UMR 6214, Angers, France.
[Bonneau, Dominique] Ctr Hosp Univ, Dept Biochim & Genet, Angers, France.
[Regnault, Beatrice] Inst Pasteur, Genopole, Paris, France.
[Zelenika, Diana; Delepine, Marc; Lathrop, Mark] Ctr Natl Genotypage, Evry, France.
[Sanlaville, Damien; Schluth-Bolard, Caroline; Edery, Patrick] Univ Lyon 1, Hosp Civils Lyon, CHU Lyon,INSERM U1028, Dept Genet,Ctr Rech Neurosci Lyon,CNRS UMR 5292, Bron, France.
[Perrin, Laurence; Tabet, Anne Claude] Hop Robert Debre, AP HP, Dept Genet, Cytogenet Unit, F-75019 Paris, France.
[Schmeisser, Michael J.; Boeckers, Tobias M.] Univ Ulm, Inst Anat & Cell Biol, D-89069 Ulm, Germany.
[Coleman, Mary] Fdn Autism Res, Sarasota, FL USA.
[Rouleau, Guy A.] McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada.
[Betancur, Catalina] INSERM U1130, Paris, France.
[Betancur, Catalina] CNRS UMR 8246, Paris, France.
[Leboyer, Marion] INSERM U955, Creteil, France.
[Leboyer, Marion] Univ Paris Est, Fac Med, Creteil, France.
[Leboyer, Marion] Hop Univ Henri Mondor, AP HP, DHU PePSY, Pole Psychiat & Addictol, Creteil, France.
[Gillberg, Christopher] UCL, Inst Child Hlth, London, England.
RP Leblond, CS (reprint author), Inst Pasteur, Human Genet & Cognit Funct Unit, Paris, France.
EM thomasb@pasteur.fr
RI Scherer, Stephen /B-3785-2013; sanlaville, damien/M-4716-2014; Monaco,
Anthony/A-4495-2010
OI Scherer, Stephen /0000-0002-8326-1999; sanlaville,
damien/0000-0001-9939-2849; Monaco, Anthony/0000-0001-7480-3197
FU Institut Pasteur; CNRS; INSERM; AP-HP; University Paris Diderot;
Bettencourt-Schueller foundation; Orange foundation; FondaMental
foundation; Conny-Maeva foundation; Cognacq-Jay foundation; ANR
[ANR-08-MNPS-037-01 - SynGen]; Neuron-ERANET (EUHF-AUTISM); DFG
[BO1718/3-1, 4-1]; Baustein [L.SBN.0081]
FX This work was funded by the Institut Pasteur, CNRS, INSERM, AP-HP,
University Paris Diderot, the Bettencourt-Schueller foundation, the
Orange foundation, the FondaMental foundation, the Conny-Maeva
foundation, the Cognacq-Jay foundation, the ANR (ANR-08-MNPS-037-01 -
SynGen), Neuron-ERANET (EUHF-AUTISM), the DFG (BO1718/3-1, 4-1) and
Baustein L.SBN.0081. The funders had no role in study design, data
collection and analysis, decision to publish, or preparation of the
manuscript.
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NR 57
TC 6
Z9 7
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1553-7390
EI 1553-7404
J9 PLOS GENET
JI PLoS Genet.
PD SEP
PY 2014
VL 10
IS 9
AR e1004580
DI 10.1371/journal.pgen.1004580
PG 15
WC Genetics & Heredity
SC Genetics & Heredity
GA AQ7OY
UT WOS:000343009600013
PM 25188300
ER
PT J
AU Smarandache, F
Vladutescu, S
AF Smarandache, Florentin
Vladutescu, Stefan
TI Towards a Practical Communication Intervention
SO REVISTA DE CERCETARE SI INTERVENTIE SOCIALA
LA English
DT Article
DE communication; communication research; social intervention;
communicational intervention; Practical Communication Intervention (PCI)
ID CHILDREN; AUTISM; MODEL
AB The study starts from evidence that several communication acts fail, but nobody is called to intervene and nobody thinks of intervening. Examining different branches (specialties) of the communication discipline and focusing on four possible practices, by comparison, differentiation, collating and corroboration, the current study brings arguments for a branch of the communication discipline that has as unique practical aim the communicational intervention, the practical, direct and strict application of communication research. Communication, as discipline, must create an instrument of intervention. The discipline which studies communication globally (General Communication Science) has developed a strong component of theoretical and practical research of communication phenomena (Applied Communication Research), and within a niche theory (Grounded Practical Theory Robert T. Craig & Karen Tracy, 1995) took incidentally into account the direct, practical application of communication research. We propose Practical Communication Intervention, as speciality of communication as an academic discipline. Practical Communication Intervention must be a field specialty in the universe of communication.
C1 [Smarandache, Florentin] Univ New Mexico, Dept Math, Gallup, NM 87301 USA.
[Vladutescu, Stefan] Univ Craiova, Fac Letters, Dept Journalism & Commun, Craiova, Romania.
RP Smarandache, F (reprint author), Univ New Mexico, Dept Math, Gallup, NM 87301 USA.
EM fsmarandache@gmail.com; stefan.vladutescu@yahoo.com
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NR 33
TC 0
Z9 0
PU EDITURA LUMEN, IASI
PI IASI
PA HOLT ROMANIA FCSSCF FILIALA, IASI STR BISTRITA, NR 7, BL B13, PARTER, AP
3, IASI, 00000, ROMANIA
SN 1583-3410
EI 1584-5397
J9 REV CERCET INTERV SO
JI Rev. Cercet. Interv. Soc.
PD SEP
PY 2014
VL 46
BP 243
EP 254
PG 12
WC Social Work; Sociology
SC Social Work; Sociology
GA AQ3YK
UT WOS:000342729200018
ER
PT J
AU Maras, KL
Mulcahy, S
Memon, A
Picariello, F
Bowler, DM
AF Maras, Katie L.
Mulcahy, Sue
Memon, Amina
Picariello, Federica
Bowler, Dermot M.
TI Evaluating the Effectiveness of the Self-Administered Interview c for
Witnesses with Autism Spectrum Disorder
SO APPLIED COGNITIVE PSYCHOLOGY
LA English
DT Article
ID IMPAIRED MEMORY FUNCTIONS; HIGH-FUNCTIONING CHILDREN; SPATIAL
WORKING-MEMORY; COGNITIVE INTERVIEW; ASPERGERS-SYNDROME; EYEWITNESS
MEMORY; FREE-RECALL; ADULTS; PERCEPTION; ADOLESCENTS
AB The widely used evidence-based police interviewing technique, the Cognitive Interview, is not effective for witnesses with autism spectrum disorder (ASD). The present study examined whether a modification of the Cognitive Interview that removes the social element, the Self-Administered Interview((c)), is more useful in facilitating recall by ASD witnesses. One of the main components of the Cognitive Interview is context reinstatement, where the witness follows verbal instructions from the interviewer to mentally recreate the personal and physical context that they experienced during the event. The present findings showed that this procedure is not effective for witnesses with ASD in SAI format in which the social component of its administration is removed. However, the SAI sketch plan component did elicit more correct details from the ASD group, although to a lesser degree than for the comparison group. Theoretical and practical implications of the findings are discussed. Copyright (c) 2014 John Wiley & Sons, Ltd.
C1 [Maras, Katie L.] Univ Bath, Bath BA2 7AY, Avon, England.
[Mulcahy, Sue] Univ Liverpool, Liverpool L69 3BX, Merseyside, England.
[Memon, Amina; Picariello, Federica] Univ London, Egham, Surrey, England.
[Bowler, Dermot M.] City Univ London, London EC1V 0HB, England.
RP Maras, KL (reprint author), Univ Bath, Bath BA2 7AY, Avon, England.
EM K.L.Maras@bath.ac.uk
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NR 51
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0888-4080
EI 1099-0720
J9 APPL COGNITIVE PSYCH
JI Appl. Cogn. Psychol.
PD SEP-OCT
PY 2014
VL 28
IS 5
BP 693
EP 701
DI 10.1002/acp.3055
PG 9
WC Psychology, Experimental
SC Psychology
GA AQ3ED
UT WOS:000342671200009
ER
PT J
AU Grados, M
Sung, HM
Kim, S
Srivastava, S
AF Grados, Marco
Sung, Hyung Mo
Kim, Sejin
Srivastava, Siddharth
TI Genetic Findings in Obsessive-Compulsive Disorder Connect to
Brain-Derived Neutrophic Factor and Mammalian Target of Rapamycin
Pathways: Implications for Drug Development
SO DRUG DEVELOPMENT RESEARCH
LA English
DT Review
DE obsessive-compulsive disorder (OCD); brain-derived neutrophic factor
(BDNF); mammalian target of rapamycin (mTOR); FKBP12; GRM5
ID LONG-TERM POTENTIATION; NEUROTROPHIC FACTOR BDNF; TUBEROUS SCLEROSIS
COMPLEX; AUTISM SPECTRUM DISORDERS; VAL66MET POLYMORPHISM; SYNAPTIC
PLASTICITY; FEAR MEMORY; PREFRONTAL CORTEX; SIGNALING PATHWAY; MUTANT
MICE
AB Traditional pharmacological approaches to the treatment of obsessive-compulsive disorder (OCD) are based on affecting serotonergic and dopaminergic transmission in the central nervous system. However, genetic epidemiology findings are pointing to glutamate pathways and developmental genes as etiological in OCD. A review of recent genetic findings in OCD is conducted, and bioinformatics approaches are used to locate pathways relevant to neuroprotection. The OCD susceptibility genes DLGAP1, RYR3, PBX1-MEIS2, LMX1A and candidate genes BDNF and GRIN2B are components of the neuronal growth, differentiation and neurogenesis pathways BDNF-mTOR. These pathways are emerging as a promising area of research for the development of neuroprotective pharmaceuticals. Emergent genetic epidemiologic data on OCD and repetitive behaviors may support new approaches for pharmacological discovery. Neuroprotective approaches that take into consideration glutamate-mediated BDNF-mTOR pathways are suggested by OCD susceptibility genes. (C) 2014 Wiley Periodicals, Inc.
C1 [Grados, Marco] Johns Hopkins Univ, Sch Med, Div Child & Adolescent Psychiat, Baltimore, MD 21287 USA.
[Sung, Hyung Mo] CHA Univ, Sch Med, Dept Psychiat, Pocheon Shi, Gyeongghi Do, South Korea.
[Kim, Sejin] Yeungnam Univ, Coll Med, Gyongsan 712749, Gyeongbuk, South Korea.
[Srivastava, Siddharth] Kennedy Krieger Inst, Baltimore, MD 21287 USA.
RP Grados, M (reprint author), Johns Hopkins Univ, Sch Med, Div Child & Adolescent Psychiat, 1800 Orleans St 12th Floor, Baltimore, MD 21287 USA.
EM mjgrados@jhmi.edu
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Zochodne DW, 2014, ACS CHEM NEUROSCI
NR 134
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0272-4391
EI 1098-2299
J9 DRUG DEVELOP RES
JI Drug Dev. Res.
PD SEP
PY 2014
VL 75
IS 6
SI SI
BP 372
EP 383
DI 10.1002/ddr.21223
PG 12
WC Chemistry, Medicinal; Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AQ4CZ
UT WOS:000342741200004
PM 25195581
ER
PT J
AU Eyre-Walker, A
Eyre-Walker, YC
AF Eyre-Walker, Adam
Eyre-Walker, Ying Chen
TI How Much of the Variation in the Mutation Rate Along the Human Genome
Can Be Explained?
SO G3-GENES GENOMES GENETICS
LA English
DT Article
DE de novo mutation; human mutation; cryptic variation; mutation rate
variation; mutation rate
ID DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS; SEQUENCE; PATTERNS
AB It has been claimed recently that it may be possible to predict the rate of de novo mutation of each site in the human genome with a high degree of accuracy [Michaelson et al. (2012), Cell 151: 143121442]. We show that this claim is unwarranted. By considering the correlation between the rate of de novo mutation and the predictions from the model of Michaelson et al., we show there could be substantial unexplained variance in the mutation rate. We investigate whether the model of Michaelson et al. captures variation at the single nucleotide level that is not due to simple context. We show that the model captures a substantial fraction of this variation at CpG dinucleotides but fails to explain much of the variation at non-CpG sites.
C1 [Eyre-Walker, Adam; Eyre-Walker, Ying Chen] Univ Sussex, Sch Life Sci, Brighton BN1 9QG, E Sussex, England.
RP Eyre-Walker, A (reprint author), Univ Sussex, Sch Biol Sci, Brighton BN1 9QG, E Sussex, England.
EM a.c.eyre-walker@sussex.ac.uk
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NR 19
TC 0
Z9 0
PU GENETICS SOCIETY AMERICA
PI BETHESDA
PA 9650 ROCKVILLE AVE, BETHESDA, MD 20814 USA
SN 2160-1836
J9 G3-GENES GENOM GENET
JI G3-Genes Genomes Genet.
PD SEP 1
PY 2014
VL 4
IS 9
BP 1667
EP 1670
DI 10.1534/g3.114.012849
PG 4
WC Genetics & Heredity
SC Genetics & Heredity
GA AQ1VE
UT WOS:000342570600011
PM 24996580
ER
PT J
AU Hill, DR
King, SA
Mrachko, AA
AF Hill, David R.
King, Seth A.
Mrachko, Alicia A.
TI Students With Autism, Service Dogs, and Public Schools: A Review of
State Laws
SO JOURNAL OF DISABILITY POLICY STUDIES
LA English
DT Review
DE autism; service dogs; schools; statutes
ID CHILDREN; THERAPY; BEHAVIOR; DISABILITIES; DISORDERS; BENEFITS; YOUTH
AB Children with autism spectrum disorder (ASD) increasingly receive assistance from service dogs. Nonetheless, confusion surrounding service dogs for students with ASD has precipitated litigation between parents and schools. The purpose of this review was to examine state laws pertaining to the use of service dogs among children with ASD. Statutes were evaluated to identify all disability classifications eligible to use a service dog, regulations related to the authorized training of service animals, and school access for service animals. Results suggest that current state laws do not facilitate the use of service dogs by children with ASD or provide sufficient guidance for parents and schools. Recommendations for policy follow a discussion of the results.
C1 [Hill, David R.; King, Seth A.; Mrachko, Alicia A.] Univ Pittsburgh, Pittsburgh, PA 15260 USA.
RP Hill, DR (reprint author), Univ Pittsburgh, 5155 Posvar Hall,230 S Bouquet St, Pittsburgh, PA 15260 USA.
EM drh53@pitt.edu
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NR 40
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1044-2073
EI 1538-4802
J9 J DISABIL POLICY STU
JI J. Disabil. Policy Stud.
PD SEP
PY 2014
VL 25
IS 2
BP 106
EP 116
DI 10.1177/1044207313477204
PG 11
WC Rehabilitation
SC Rehabilitation
GA AQ1VA
UT WOS:000342569800004
ER
PT J
AU Butean, I
Costescu, C
Dobrean, A
AF Butean, Iulia
Costescu, Cristina
Dobrean, Anca
TI DIFFERENCES BETWEEN EMPATHIC RESPONSES IN CHILDREN WITH AUTISM SPECTRUM
DISORDER AND TYPICALLY DEVELOPING CHILDREN
SO JOURNAL OF EVIDENCE-BASED PSYCHOTHERAPIES
LA English
DT Article
DE empathic responses; autism spectrum disorder; prosocial behaviors
ID BEHAVIOR; EMOTION; TEMPERAMENT; DISTRESS; OTHERS; ADULTS
AB Previous studies show that empathy deficits are considered an important barrier for the social development of children diagnosed with autism spectrum disorder (ASD). This study compares the empathic responses between a group of children with ASD and a group of typically developing (TD) children. We included 63 children, out of which 26 had a diagnosis of ASD. We used an empathy task which simulated leg pain and an observational grid to assess four dimensions of empathy: affective responding, behavior activation, verbal empathic initiations and prosocial behaviors. The results showed that children with ASD had a lower performance at the affective responding and behavior activation dimensions, as compared with TD children, but there were no differences between the two groups in verbal empathic initiations and prosocial behaviors.
C1 [Butean, Iulia; Costescu, Cristina; Dobrean, Anca] Univ Babes Bolyai, Dept Clin Psychol & Psychotherapy, R-3400 Cluj Napoca, Romania.
RP Costescu, C (reprint author), Univ Babes Bolyai, Dept Clin Psychol & Psychotherapy, R-3400 Cluj Napoca, Romania.
EM popcristina.anamaria@yahoo.com
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ZAHNWAXLER C, 1992, DEV PSYCHOL, V28, P1038, DOI 10.1037//0012-1649.28.6.1038
NR 33
TC 0
Z9 0
PU INT INST ADVANCED STUDIES PSYCHOTHERAPY & APPLIED MENTAL HEALTH
PI CLUJ
PA NO 37 , REPUBLICII STR, CLUJ-NAPOCA, CLUJ, 00000, ROMANIA
SN 2360-0853
J9 J EVID-BASED PSYCHOT
JI J. Evid-Based Psychother.
PD SEP
PY 2014
VL 14
IS 2
BP 197
EP 209
PG 13
WC Psychology, Clinical
SC Psychology
GA AQ1KP
UT WOS:000342540600009
ER
PT J
AU Thomas, KC
Williams, CS
De Jong, N
Morrissey, JP
AF Thomas, Kathleen C.
Williams, Christianna S.
De Jong, Neal
Morrissey, Joseph P.
TI Adequate Health Insurance for Children with Autism: Parent-Reported
Outcomes and Implications for Defining Essential Benefits
SO JOURNAL OF MENTAL HEALTH POLICY AND ECONOMICS
LA English
DT Meeting Abstract
C1 [Thomas, Kathleen C.; Williams, Christianna S.; De Jong, Neal; Morrissey, Joseph P.] Univ N Carolina, Chapel Hill, NC 27599 USA.
NR 0
TC 0
Z9 0
PU INT CTR MENTAL HEALTH POLICY & ECONOMICS-ICMPE
PI MILANO
PA VIA DANIELE CRESPI 7, MILANO, 20123, ITALY
SN 1091-4358
J9 J MENT HEALTH POLICY
JI J. Ment. Health Policy Econ.
PD SEP
PY 2014
VL 17
SU 1
BP S24
EP S24
PG 1
WC Health Policy & Services; Psychiatry
SC Health Care Sciences & Services; Psychiatry
GA AQ3ZF
UT WOS:000342731300047
ER
PT J
AU Yoshimasu, K
Kiyohara, C
Takemura, S
Nakai, K
AF Yoshimasu, Kouichi
Kiyohara, Chikako
Takemura, Shigeki
Nakai, Kunihiko
TI A meta-analysis of the evidence on the impact of prenatal and early
infancy exposures to mercury on autism and attention
deficit/hyperactivity disorder in the childhood
SO NEUROTOXICOLOGY
LA English
DT Review
DE Mercury exposure; Autism; ADHD; Thimerosal; Meta-analysis
ID THIMEROSAL-CONTAINING VACCINES; DEFICIT HYPERACTIVITY DISORDER;
HAZARDOUS AIR-POLLUTANTS; NEURODEVELOPMENTAL DISORDERS; SPECTRUM
DISORDERS; DEVELOPMENTAL DISORDERS; METHYLMERCURY EXPOSURE; CAUSAL
ASSOCIATION; CLINICAL-TRIALS; UNITED-KINGDOM
AB Although a measurable number of epidemiological studies have been conducted to clarify the associations between mercury exposure during embryo or early infancy and later incidences of autism spectrum disorders (ASD) or attention-deficit hyperactivity disorder (ADHD), the conclusion still remains unclear. Meta-analysis was conducted for two major exposure sources; i.e., thimerosal vaccines that contain ethylmercury (clinical exposure), and environmental sources, using relevant literature published before April 2014. While thimerosal exposures did not show any material associations with an increased risk of ASD or ADHD (the summary odds ratio (OR) 0.99,95% confidence interval (CI) 0.80-1.24 for ASD; OR 0.91, 95% CI 0.70-1.13 for ADHD/ADD), significant associations were observed for environmental exposures in both ASD (OR 1.66,95% CI 1.14-2.17) and ADHD (OR 1.60,95% CI 1.10-2.33). The summary ORs were similar after excluding studies not adjusted for confounders. Moderate adverse effects were observed only between environmental inorganic or organic mercury exposures and ASD/ADHD. However, these results should be interpreted with caution since the number of epidemiological studies on this issue was limited and still at an early stage. Further studies focused on subjects with genetic vulnerabilities of developmental disorders are warranted for better understanding of the effects of such environmental exposures. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Yoshimasu, Kouichi; Takemura, Shigeki] Wakayama Med Univ, Sch Med, Dept Hyg, Wakayama 6410012, Japan.
[Kiyohara, Chikako] Kyushu Univ, Grad Sch Med Sci, Dept Prevent Med, Fukuoka, Japan.
[Nakai, Kunihiko] Tohoku Univ, Grad Sch Med, Dept Dev & Environm Med, Sendai, Miyagi 980, Japan.
RP Yoshimasu, K (reprint author), Wakayama Med Univ, Sch Med, Dept Hyg, 811-1 Kimiidera, Wakayama 6410012, Japan.
EM kyoshi@wakayama-med.ac.jp
FU Environment Research and Technology Development Fund of the Ministry of
the Environment, Japan [5-1451]
FX This research was supported by the Environment Research and Technology
Development Fund (5-1451) of the Ministry of the Environment, Japan.
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NR 56
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0161-813X
EI 1872-9711
J9 NEUROTOXICOLOGY
JI Neurotoxicology
PD SEP
PY 2014
VL 44
BP 121
EP 131
DI 10.1016/j.neuro.2014.06.007
PG 11
WC Neurosciences; Pharmacology & Pharmacy; Toxicology
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Toxicology
GA AQ2XY
UT WOS:000342654500015
PM 24952233
ER
PT J
AU Tabata, K
Yoshida, T
Naoe, J
AF Tabata, K.
Yoshida, T.
Naoe, J.
TI THREE CASES OF ALCOHOLISM WITH AUTISM SPECTRUM DISORDER
SO ALCOHOL AND ALCOHOLISM
LA English
DT Meeting Abstract
C1 [Tabata, K.; Yoshida, T.; Naoe, J.] Asahikawa Keisenkai Hosp, Med Off, Asahikawa, Hokkaido, Japan.
NR 0
TC 0
Z9 0
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0735-0414
EI 1464-3502
J9 ALCOHOL ALCOHOLISM
JI Alcohol Alcohol.
PD SEP
PY 2014
VL 49
SU 1
MA P-4
PG 1
WC Substance Abuse
SC Substance Abuse
GA AP8TO
UT WOS:000342352100005
ER
PT J
AU Kosho, T
Miyake, N
Carey, JC
AF Kosho, Tomoki
Miyake, Noriko
Carey, John C.
TI Coffin-Siris Syndrome and Related Disorders Involving Components of the
BAF (mSWI/SNF) Complex: Historical Review and Recent Advances Using Next
Generation Sequencing
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
LA English
DT Editorial Material
ID CHROMATIN-REMODELING COMPLEX; FORSSMAN-LEHMANN-SYNDROME; DE-NOVO
MUTATIONS; NICOLAIDES-BARAITSER SYNDROME; SWI/SNF COMPLEX; INTELLECTUAL
DISABILITY; MENTAL-RETARDATION; FAMILIAL SCHWANNOMATOSIS; DYSMORPHIC
FEATURES; DISTINCT PHENOTYPE
AB This issue of Seminars in Medical Genetics, American Journal of Medical Genetics Part C investigates the human diseases caused by mutations in the BAF complex (also known as the mammalian SWI/SNF complex) genes, particularly focusing on Coffin-Siris syndrome (CSS). CSS is a rare congenital malformation syndrome characterized by developmental delay or intellectual disability (ID), coarse facial appearance, feeding difficulties, frequent infections, and hypoplasia/aplasia of the fifth fingernails and fifth distal phalanges. In 2012, 42 years after the first description of CSS in 1970, five causative genes (SMARCB1, SMARCE1, SMARCA4, ARID1A, ARID1B), all encoding components of the BAF complex, were identified as being responsible for CSS through whole exome sequencing and pathway-based genetic screening. The identification of two additional causative genes (PHF6, SOX11) followed. Mutations in another BAF complex gene (SMARCA2) and (TBC1D24) were found to cause clinically similar conditions with ID, Nicolaides-Baraitser syndrome and DOORS syndrome, respectively. Also, ADNP was found to be mutated in an autism/ID syndrome. Furthermore, there is growing evidences for germline or somatic mutations in the BAF complex genes to be causal for cancer/cancer predisposition syndromes. These discoveries have highlighted the role of the BAF complex in the human development and cancer formation. The biology of BAF is very complicated and much remains unknown. Ongoing research is required to reveal the whole picture of the BAF complex in human development, and will lead to the development of new targeted therapies for related disorders in the future. (c) 2014 Wiley Periodicals, Inc.
C1 [Kosho, Tomoki] Shinshu Univ, Sch Med, Shinshu Univ Hosp, Div Clin & Mol Genet, Matsumoto, Nagano 3908621, Japan.
[Kosho, Tomoki] Shinshu Univ, Sch Med, Dept Med Genet, Matsumoto, Nagano 3908621, Japan.
[Miyake, Noriko] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan.
[Carey, John C.] Univ Utah, Sch Med, Dept Pediat, Salt Lake City, UT 84112 USA.
RP Kosho, T (reprint author), Shinshu Univ, Sch Med, Dept Med Genet, 3-1-1 Asahi, Matsumoto, Nagano 3908621, Japan.
EM ktomoki@shinshu-u.ac.jp; nmiyake@yokohama-cu.ac.jp
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NR 82
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4868
EI 1552-4876
J9 AM J MED GENET C
JI Am. J. Med. Genet. C
PD SEP
PY 2014
VL 166
IS 3
SI SI
BP 241
EP 251
DI 10.1002/ajmg.c.31415
PG 11
WC Genetics & Heredity
SC Genetics & Heredity
GA AP8QG
UT WOS:000342343200001
PM 25169878
ER
PT J
AU Vandeweyer, G
Helsmoortel, C
Van Dijck, A
Vulto-van Silfhout, AT
Coe, BP
Bernier, R
Gerdts, J
Rooms, L
van den Ende, J
Bakshi, M
Wilson, M
Nordgren, A
Hendon, LG
Abdulrahman, OA
Romano, C
De Vries, BBA
Kleefstra, T
Eichler, EE
Van der Aa, N
Kooy, RF
AF Vandeweyer, Geert
Helsmoortel, Celine
Van Dijck, Anke
Vulto-van Silfhout, Anneke T.
Coe, Bradley P.
Bernier, Raphael
Gerdts, Jennifer
Rooms, Liesbeth
van den Ende, Jenneke
Bakshi, Madhura
Wilson, Meredith
Nordgren, Ann
Hendon, Laura G.
Abdulrahman, Omar A.
Romano, Corrado
de Vries, Bert B. A.
Kleefstra, Tjitske
Eichler, Evan E.
Van der Aa, Nathalie
Kooy, R. Frank
TI The Transcriptional Regulator ADNP Links the BAF (SWI/SNF) Complexes
With Autism
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
LA English
DT Article
DE autism; SWI; SNF; BAF complexes; ADNP
ID DEPENDENT NEUROPROTECTIVE PROTEIN; DE-NOVO MUTATIONS; CHROMATIN
REMODELING COMPLEX; COFFIN-SIRIS SYNDROME; SPECTRUM DISORDERS;
INTELLECTUAL DISABILITY; NEURAL DEVELOPMENT; PEPTIDE; NAP; GENETICS
AB Mutations in ADNP were recently identified as a frequent cause of syndromic autism, characterized by deficits in social communication and interaction and restricted, repetitive behavioral patterns. Based on its functional domains, ADNP is a presumed transcription factor. The gene interacts closely with the SWI/SNF complex by direct and experimentally verified binding of its C-terminus to three of its core components. A detailed and systematic clinical assessment of the symptoms observed in our patients allows a detailed comparison with the symptoms observed in other SWI/SNF disorders. While the mutational mechanism of the first 10 patients identified suggested a gain of function mechanism, an 11th patient reported here is predicted haploinsufficient. The latter observation may raise hope for therapy, as addition of NAP, a neuroprotective octapeptide named after the first three amino acids of the sequence NAPVSPIQ, has been reported by others to ameliorate some of the cognitive abnormalities observed in a knockout mouse model. It is concluded that detailed clinical and molecular studies on larger cohorts of patients are necessary to establish a better insight in the genotype phenotype correlation and in the mutational mechanism. (c) 2014 Wiley Periodicals, Inc.
C1 [Vandeweyer, Geert; Helsmoortel, Celine; Van Dijck, Anke; van den Ende, Jenneke; Van der Aa, Nathalie; Kooy, R. Frank] Univ Antwerp, Dept Med Genet, B-2650 Edegem, Belgium.
[Van Dijck, Anke; van den Ende, Jenneke; Van der Aa, Nathalie] Univ Antwerp Hosp, B-2650 Edegem, Belgium.
[Vulto-van Silfhout, Anneke T.] Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.
[Coe, Bradley P.] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA.
[Bernier, Raphael; Gerdts, Jennifer] Univ Washington, Dept Psychiat, Seattle, WA 98195 USA.
[Rooms, Liesbeth] Univ Antwerp Hosp, Dept Med Genet, B-2650 Edegem, Belgium.
[Nordgren, Ann] Karolinska Inst, Dept Mol Med & Surg, Clin Genet Unit, S-10401 Stockholm, Sweden.
[Hendon, Laura G.; Abdulrahman, Omar A.] Univ Mississippi, Med Ctr Jackson, University, MS 38677 USA.
[Romano, Corrado] IRCCS Assoc Oasi Maria Santissima, Troina, Italy.
[de Vries, Bert B. A.; Kleefstra, Tjitske] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav Dept, NL-6525 ED Nijmegen, Netherlands.
[de Vries, Bert B. A.; Kleefstra, Tjitske] Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, NL-6525 ED Nijmegen, Netherlands.
[Eichler, Evan E.] Univ Washington, Seattle, WA 98195 USA.
RP Van der Aa, N (reprint author), Univ Antwerp, Dept Med Genet, Prins Boudewijnlaan 43, B-2650 Edegem, Belgium.
EM Nathalie.VanderAa@uza.be; Frank.Kooy@uantwerpen.be
RI Romano, Corrado/B-9695-2008
OI Romano, Corrado/0000-0003-1049-0683
FU Dutch Organization for Health Research and Development [917-86-319,
40-00812-98-12109, 907-00-365]; EU [EU-7th-2010-241995]; Simons
Foundation Autism Research Initiative award [SFARI191889EE]; NIH
[MH101221]
FX Grant sponsor: Dutch Organization for Health Research and Development;
Grant number: 917-86-319, 40-00812-98-12109, 907-00-365; Grant sponsor:
EU; Grant number: EU-7th-2010-241995; Grant sponsor: Simons Foundation
Autism Research Initiative award; Grant number: SFARI191889EE; Grant
sponsor: NIH; Grant number: MH101221.
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NR 55
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4868
EI 1552-4876
J9 AM J MED GENET C
JI Am. J. Med. Genet. C
PD SEP
PY 2014
VL 166
IS 3
SI SI
BP 315
EP 326
DI 10.1002/ajmg.c.31413
PG 12
WC Genetics & Heredity
SC Genetics & Heredity
GA AP8QG
UT WOS:000342343200008
PM 25169753
ER
PT J
AU Son, EY
Crabtree, GR
AF Son, Esther Y.
Crabtree, Gerald R.
TI The Role of BAF (mSWI/SNF) Complexes in Mammalian Neural Development
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
LA English
DT Article
DE BAF; mammalian SWI; SNF; chromatin remodeling; neural development;
microRNA; intellectual disability; Coffin-Siris syndrome;
Nicolaides-Baraitser syndrome; autism; schizophrenia
ID CHROMATIN-REMODELING COMPLEX; EMBRYONIC STEM-CELLS; PUTATIVE PHEROMONE
RECEPTORS; COFFIN-SIRIS SYNDROME; DE-NOVO MUTATIONS;
NICOLAIDES-BARAITSER SYNDROME; DOUBLE-POSITIVE THYMOCYTES; TARGET GENE
ACTIVATION; CAUSE WEAVER SYNDROME; SWI/SNF COMPLEXES
AB The BAF (mammalian SWI/SNF) complexes are a family of multi-subunit ATP-dependent chromatin remodelers that use ATP hydrolysis to alter chromatin structure. Distinct BAF complex compositions are possible through combinatorial assembly of homologous subunit families and can serve non-redundant functions. In mammalian neural development, developmental stage-specific BAF assemblies are found in embryonic stem cells, neural progenitors and postmitotic neurons. In particular, the neural progenitor-specific BAF complexes are essential for controlling the kinetics and mode of neural progenitor cell division, while neuronal BAF function is necessary for the maturation of postmitotic neuronal phenotypes as well as long-term memory formation. The microRNA-mediated mechanism for transitioning from npBAF to nBAF complexes is instructive for the neuronal fate and can even convert fibroblasts into neurons. The high frequency of BAF subunit mutations in neurological disorders underscores the rate-determining role of BAF complexes in neural development, homeostasis, and plasticity. (c) 2014 Wiley Periodicals, Inc.
C1 [Son, Esther Y.] Stanford Univ, Dept Pathol, Stanford, CA 94305 USA.
[Crabtree, Gerald R.] Stanford Univ, Stanford, CA 94305 USA.
RP Crabtree, GR (reprint author), Stanford Univ, Sch Med, Dept Pathol, Beckman Ctr B211, 279 Campus Dr, Stanford, CA 94305 USA.
EM crabtree@stanford.edu
FU National Institutes of Health; Howard Hughes Medical Institute
FX Grant sponsor: National Institutes of Health and the Howard Hughes
Medical Institute.
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NR 178
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4868
EI 1552-4876
J9 AM J MED GENET C
JI Am. J. Med. Genet. C
PD SEP
PY 2014
VL 166
IS 3
SI SI
BP 333
EP 349
DI 10.1002/ajmg.c.31416
PG 17
WC Genetics & Heredity
SC Genetics & Heredity
GA AP8QG
UT WOS:000342343200010
PM 25195934
ER
PT J
AU Allen, JL
Liu, XF
Pelkowski, S
Palmer, B
Conrad, K
Oberdorster, G
Weston, D
Mayer-Proschel, M
Cory-Slechta, DA
AF Allen, Joshua L.
Liu, Xiufang
Pelkowski, Sean
Palmer, Brian
Conrad, Katherine
Oberdoerster, Guenter
Weston, Douglas
Mayer-Proschel, Margot
Cory-Slechta, Deborah A.
TI Early Postnatal Exposure to Ultrafine Particulate Matter Air Pollution:
Persistent Ventriculomegaly, Neurochemical Disruption, and Glial
Activation Preferentially in Male Mice
SO ENVIRONMENTAL HEALTH PERSPECTIVES
LA English
DT Article
ID DEVELOPMENTAL EXPOSURE; SPECTRUM DISORDER; ISCHEMIC-STROKE; LOS-ANGELES;
IN-UTERO; SCHIZOPHRENIA; BRAIN; AUTISM; ENLARGEMENT; STRESS
AB BACKGROUND: Air pollution has been associated with adverse neuro-logical and behavioral health effects in children and adults. Recent studies link air pollutant exposure to adverse neuro-developmental outcomes, including increased risk for autism, cognitive decline, ischemic stroke, schizophrenia, and depression.
OBJECTIVES: We sought to investigate the mechanism(s) by which exposure to ultrafine concentrated ambient particles (CAPs) adversely influences central nervous system (CNS) development.
METHODS: We exposed C57BL6/J mice to ultrafine (< 100 nm) CAPs using the Harvard University Concentrated Ambient Particle System or to filtered air on postnatal days (PNDs) 4-7 and 10-13, and the animals were euthanized either 24 hr or 40 days after cessation of exposure. Another group of males was exposed at PND270, and lateral ventricle area, glial activation, CNS cytokines, and monoamine and amino acid neurotransmitters were quantified.
RESULTS: We observed ventriculomegaly (i.e., lateral ventricle dilation) preferentially in male mice exposed to CAPs, and it persisted through young adulthood. In addition, CAPs-exposed males generally showed decreases in developmentally important CNS cytokines, whereas in CAPs-exposed females, we observed a neuroinflammatory response as indicated by increases in CNS cytokines. We also saw changes in CNS neurotransmitters and glial activation across multiple brain regions in a sex-dependent manner and increased hippocampal glutamate in CAPs-exposed males.
CONCLUSIONS: We observed brain region-and sex-dependent alterations in cytokines and neurotransmitters in both male and female CAPs-exposed mice. Lateral ventricle dilation (i.e., ventriculomegaly) was observed only in CAPs-exposed male mice. Ventriculomegaly is a neuro-pathology that has been associated with poor neuro-developmental outcome, autism, and schizophrenia. Our findings suggest alteration of developmentally important neurochemicals and lateral ventricle dilation may be mechanistically related to observations linking ambient air pollutant exposure and adverse neuro-logical/neuro-developmental outcomes in humans.
C1 [Allen, Joshua L.; Liu, Xiufang; Pelkowski, Sean; Palmer, Brian; Conrad, Katherine; Oberdoerster, Guenter; Weston, Douglas; Cory-Slechta, Deborah A.] Univ Rochester, Sch Med, Dept Environm Med, Rochester, NY USA.
[Mayer-Proschel, Margot] Univ Rochester, Sch Med, Dept Biochem Genet, Rochester, NY USA.
RP Cory-Slechta, DA (reprint author), 601 Elmwood Ave,Box EHSC Room 2-6810, Rochester, NY 14642 USA.
EM deborah_cory-slechta@urmc.rochester.edu
FU National Institute of Environmental Health Sciences [ES019105, ES019852,
ES001247, T32 ES007026]
FX This work was supported by National Institute of Environmental Health
Sciences grants ES019105 and ES019852 (D.A.C.-S.), ES001247 (G.O.,
M.M-P., and D.A.C.-S.), and T32 ES007026 (J.L.A. and B.P.).
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NR 62
TC 3
Z9 3
PU US DEPT HEALTH HUMAN SCIENCES PUBLIC HEALTH SCIENCE
PI RES TRIANGLE PK
PA NATL INST HEALTH, NATL INST ENVIRONMENTAL HEALTH SCIENCES, PO BOX 12233,
RES TRIANGLE PK, NC 27709-2233 USA
SN 0091-6765
EI 1552-9924
J9 ENVIRON HEALTH PERSP
JI Environ. Health Perspect.
PD SEP
PY 2014
VL 122
IS 9
BP 939
EP 945
DI 10.1289/ehp.1307984
PG 7
WC Environmental Sciences; Public, Environmental & Occupational Health;
Toxicology
SC Environmental Sciences & Ecology; Public, Environmental & Occupational
Health; Toxicology
GA AO9XT
UT WOS:000341714600022
PM 24901756
ER
PT J
AU Potera, C
AF Potera, Carol
TI Echoes of Autism? Inhaled Ultrafine Particles and Brain Changes in Mice
SO ENVIRONMENTAL HEALTH PERSPECTIVES
LA English
DT News Item
ID AIR-POLLUTION; DEVELOPMENTAL EXPOSURE; PARTICULATE MATTER; SCHIZOPHRENIA
CR Allen JL, 2014, ENVIRON HEALTH PERSP, V122, P939, DOI 10.1289/ehp.1307984
Allen JL, 2014, TOXICOL SCI, V140, P160, DOI 10.1093/toxsci/kfu059
Allen JL, 2013, ENVIRON HEALTH PERSP, V121, P32, DOI [10.1289/ehp.1205505, 10.1289/ehp.121-a32]
Baio J., 2014, MMWR SURVEILL SUM S2, V63, P1
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Wright IC, 2000, AM J PSYCHIAT, V157, P16
NR 10
TC 0
Z9 0
PU US DEPT HEALTH HUMAN SCIENCES PUBLIC HEALTH SCIENCE
PI RES TRIANGLE PK
PA NATL INST HEALTH, NATL INST ENVIRONMENTAL HEALTH SCIENCES, PO BOX 12233,
RES TRIANGLE PK, NC 27709-2233 USA
SN 0091-6765
EI 1552-9924
J9 ENVIRON HEALTH PERSP
JI Environ. Health Perspect.
PD SEP
PY 2014
VL 122
IS 9
BP A250
EP A250
DI 10.1289/ehp.122-A250
PG 1
WC Environmental Sciences; Public, Environmental & Occupational Health;
Toxicology
SC Environmental Sciences & Ecology; Public, Environmental & Occupational
Health; Toxicology
GA AO9XT
UT WOS:000341714600010
PM 25181731
ER
PT J
AU Geier, DA
Hooker, BS
Kern, JK
King, PG
Sykes, LK
Geier, MR
AF Geier, David A.
Hooker, Brian S.
Kern, Janet K.
King, Paul G.
Sykes, Lisa K.
Geier, Mark R.
TI A Dose-Response Relationship between Organic Mercury Exposure from
Thimerosal-Containing Vaccines and Neurodevelopmental Disorders
SO INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
LA English
DT Article
DE attention deficit; autism; ethylmercury; merthiolate; thiomersal
ID HEPATITIS-B VACCINATION; EVENT REPORTING SYSTEM; SAFETY DATALINK;
INFANTS; AUTISM; METHYLMERCURY; ETHYLMERCURY; ASSOCIATION; THIOMERSAL;
DATABASES
AB A hypothesis testing case-control study evaluated concerns about the toxic effects of organic-mercury (Hg) exposure from thimerosal-containing (49.55% Hg by weight) vaccines on the risk of neurodevelopmental disorders (NDs). Automated medical records were examined to identify cases and controls enrolled from their date-of-birth (1991-2000) in the Vaccine Safety Datalink (VSD) project. ND cases were diagnosed with pervasive developmental disorder (PDD), specific developmental delay, tic disorder or hyperkinetic syndrome of childhood. In addition, putative non-thimerosal-related outcomes of febrile seizure, failure to thrive and cerebral degenerations were examined. The cumulative total dose of Hg exposure from thimerosal-containing hepatitis B vaccine (T-HBV) administered within the first six months of life was calculated. On a per microgram of organic-Hg basis, PDD (odds ratio (OR) = 1.054), specific developmental delay (OR = 1.035), tic disorder (OR = 1.034) and hyperkinetic syndrome of childhood (OR = 1.05) cases were significantly more likely than controls to receive increased organic-Hg exposure. By contrast, none of the non-thimerosal related outcomes were significantly more likely than the controls to have received increased organic-Hg exposure. Routine childhood vaccination may be an important public health tool to reduce infectious disease-associated morbidity/mortality, but the present study significantly associates organic-Hg exposure from T-HBV with an increased risk of an ND diagnosis.
C1 [Geier, David A.; Kern, Janet K.; Geier, Mark R.] Inst Chron Illnesses Inc, Silver Spring, MD 20905 USA.
[Hooker, Brian S.] Simpson Univ, Dept Biol, Redding, CA 96003 USA.
[Kern, Janet K.] Univ Texas SW Med Ctr Dallas, Dept Psychiat, Dallas, TX 75390 USA.
[King, Paul G.; Sykes, Lisa K.] CoMeD Inc, Silver Spring, MD 20905 USA.
RP Geier, MR (reprint author), Inst Chron Illnesses Inc, 14 Redgate Ct, Silver Spring, MD 20905 USA.
EM davidallengeier@comcast.net; bhooker@simpsonu.edu; jkern@dfwair.net;
paulgkingphd@gmail.com; syklone5@verizon.net; mgeier@comcast.net
FU Institute of Chronic Illnesses, Inc.; CoMeD, Inc.; Seltz Foundation;
Dwoskin Family Foundation
FX This study was supported by the non-profit Institute of Chronic
Illnesses, Inc., and the non-profit CoMeD, Inc. This study was also
supported the Seltz Foundation and the Dwoskin Family Foundation, but
they were not involved in the design and conducting of the study, in the
collection analysis, in the interpretation of the data, in the
preparation, in the review nor in the approval of the manuscript.
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NR 35
TC 2
Z9 2
PU MDPI AG
PI BASEL
PA POSTFACH, CH-4005 BASEL, SWITZERLAND
SN 1660-4601
J9 INT J ENV RES PUB HE
JI Int. J. Environ. Res. Public Health
PD SEP
PY 2014
VL 11
IS 9
BP 9156
EP 9170
DI 10.3390/ijerph110909156
PG 15
WC Environmental Sciences
SC Environmental Sciences & Ecology
GA AP4DN
UT WOS:000342027500033
PM 25198681
ER
PT J
AU Rauf, NK
Anis-ul-Haq
Aslam, N
Anjum, U
AF Rauf, Nelofar Kiran
Anis-ul-Haq
Aslam, Naeem
Anjum, Uzma
TI Characteristic Symptoms and Adaptive Behaviors of Children with Autism
SO JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN
LA English
DT Article
DE Autism; Adaptive behaviors; Characteristic symptoms; Autism spectrum
disorder; Special education
ID HIGHER FUNCTIONING INDIVIDUALS; SPECTRUM DISORDERS; ALTERNATIVE
COMMUNICATION; PARENTING STRESS; DISABILITIES; ABILITIES; TODDLERS;
LANGUAGE
AB Objective: To determine the characteristic symptoms and adaptive behaviors of children with autism, as well as the distribution of autism severity groups across gender.
Study Design: Cross-sectional observational study.
Place and Duration of Study: Special Education Schools of Rawalpindi and Islamabad, from September 2011 to January 2012.
Methodology: Thirty nine children of either gender, aged 3 - 16 years and enrolled in special education schools, fulfilled the DSM-IV-TR criteria of autism. Among those, were identified as meeting the criteria of autism. The childhood autism rating scale-2 (CARS-2) was used to study the characteristics and severity of symptoms of autism. Later, adaptive behavior scale (school edition: 2) ABS-S: 2, was administered on children (n=21) to formulate the level of adaptive functioning.
Results: There were 15 boys and 8 girls with mean age of 10.6 +/- 2.97 years. They showed marked impairment in verbal communication (mean=3.17 +/- 0.90) followed by relating to people (mean=2.75 +/- 0.83) and general impression (mean=2.73 +/- 0.7). Most of the children showed average to below average adaptive behaviors on number and time (n=19, 90.5%), independent functioning (n=17, 81.0%), self direction (n=17, 81.0%), physical development (n=13, 61.9%), responsibility (n=12, 57.1%) and socialization (n=13, 61.9%) as well as poor to very poor adaptive behaviors on pre-vocational skill (n=15, 71.4%), language development (n=13, 61.9%) and economic development (n=13, 61.9%). The frequency of boys with autism was more towards moderate to severely impaired spectrum, without gender differences in any symptom associated with autism.
Conclusion: Comprehension of the presentation of characteristic symptoms of children with autism will be helpful in devising the indigenous intervention plans that are congruent with the level of adaptive functioning.
C1 [Rauf, Nelofar Kiran; Anis-ul-Haq; Aslam, Naeem] Quaid I Azam Univ, Ctr Excellence, Natl Inst Psychol, Islamabad, Pakistan.
[Anjum, Uzma] Natl Univ Modern Languages, Fac Adv Integrated Studies & Res, Islamabad, Pakistan.
RP Rauf, NK (reprint author), House 172,St 3b, Judicial Colony, Rawalpindi, Pakistan.
EM nelofar@nip.edu.pk
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NR 23
TC 0
Z9 0
PU COLL PHYSICIANS & SURGEONS PAKISTAN
PI KARACHI
PA SEVENTH CENTRAL ST, DEFENCE HOUSING AUTHORITY, KARACHI, 75500, PAKISTAN
SN 1022-386X
EI 1681-7168
J9 JCPSP-J COLL PHYSICI
JI JCPSP-J. Coll. Physicians Surg.
PD SEP
PY 2014
VL 24
IS 9
BP 658
EP 662
PG 5
WC Medicine, General & Internal
SC General & Internal Medicine
GA AP8NY
UT WOS:000342336900012
PM 25233971
ER
PT J
AU Damiano, CR
Mazefsky, CA
White, SW
Dichter, GS
AF Damiano, Cara R.
Mazefsky, Carla A.
White, Susan W.
Dichter, Gabriel S.
TI Future Directions for Research in Autism Spectrum Disorders
SO JOURNAL OF CLINICAL CHILD AND ADOLESCENT PSYCHOLOGY
LA English
DT Article
ID ECOLOGICAL MOMENTARY ASSESSMENT; HIGH-FUNCTIONING AUTISM; PERVASIVE
DEVELOPMENTAL DISORDERS; DRUG DEVELOPMENT; YOUNG-CHILDREN; MOUSE MODELS;
PSYCHOSOCIAL INTERVENTIONS; TROPHOBLAST INCLUSIONS; BEHAVIORAL-GENETICS;
TRAINING-PROGRAM
AB This article suggests future directions for research aimed at improving our understanding of the etiology and pathophysiology of autism spectrum disorder (ASD) as well as pharmacologic and psychosocial interventions for ASD across the lifespan. The past few years have witnessed unprecedented transformations in the understanding of ASD neurobiology, genetics, early identification, and early intervention. However, recent increases in ASD prevalence estimates highlight the urgent need for continued efforts to translate novel ASD discoveries into effective interventions for all individuals with ASD. In this article we highlight promising areas for ongoing and new research expected to quicken the pace of scientific discovery and ultimately the translation of research findings into accessible and empirically supported interventions for those with ASD. We highlight emerging research in the following domains as particularly promising and pressing: (a) preclinical models, (b) experimental therapeutics, (c) early identification and intervention, (d) psychiatric comorbidities and the Research Domain Criteria initiative, (e) ecological momentary assessment, (f) neurotechnologies, and (g) the needs of adults with ASD. Increased research emphasis in these areas has the potential to hasten the translation of knowledge on the etiological mechanisms of ASD to psychosocial and biological interventions to reduce the burden of ASD on affected individuals and their families.
C1 [Damiano, Cara R.; Dichter, Gabriel S.] Univ N Carolina, Dept Psychol, Chapel Hill, NC 27599 USA.
[Damiano, Cara R.; Dichter, Gabriel S.] Univ N Carolina, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA.
[Mazefsky, Carla A.] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA 15260 USA.
[White, Susan W.] Virginia Polytech Inst & State Univ, Dept Psychol, Blacksburg, VA 24061 USA.
[Dichter, Gabriel S.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA.
RP Dichter, GS (reprint author), Univ N Carolina, CB 7255, Chapel Hill, NC 27599 USA.
EM g.dichter@gmail.com
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NR 176
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1537-4416
EI 1537-4424
J9 J CLIN CHILD ADOLESC
JI J. Clin. Child Adolesc. Psychol.
PD SEP-OCT
PY 2014
VL 43
IS 5
BP 828
EP 843
DI 10.1080/15374416.2014.945214
PG 16
WC Psychology, Clinical; Psychology, Developmental
SC Psychology
GA AP6TV
UT WOS:000342211600011
PM 25216048
ER
PT J
AU Johnson, NL
Bekhet, A
Robinson, K
Rodriguez, D
AF Johnson, Norah L.
Bekhet, Abir
Robinson, Karen
Rodriguez, Dana
TI Attributed Meanings and Strategies to Prevent Challenging Behaviors of
Hospitalized Children With Autism: Two Perspectives
SO JOURNAL OF PEDIATRIC HEALTH CARE
LA English
DT Article
DE Autism; challenging behaviors; focus groups
AB Introduction: Understanding is limited of the meaning attributed to behaviors of children with autism spectrum disorder and strategies used to prevent challenging behaviors in the context of hospitalization.
Methods: This qualitative study consisted of two focus groups (n = 10; five mothers and five health care providers [HCPs]). Transcripts were analyzed using the qualitative method of narrative inquiry.
Results: The meaning attributed to behaviors by the mothers and the HCPs differed. The mothers attributed behaviors to the child's communication of frustration, hyperactivity, and self-calming. The HCPs attributed challenging behaviors to self-stimulation and child aggression. Strategies to prevent behaviors also differed. Mothers focused on preparation prior to hospitalization and attempts to partner with HCPs. HCPs identified fewer strategies and consulted mothers for strategies to manage challenging behaviors.
Discussion: HCP and parent collaboration could lead to strategies to increase supports for children with autism spectrum disorder in the hospital to decrease their frustration and challenging behaviors.
C1 [Johnson, Norah L.; Bekhet, Abir; Robinson, Karen; Rodriguez, Dana] Marquette Univ, Coll Nursing, Milwaukee, WI 53201 USA.
RP Johnson, NL (reprint author), Marquette Univ, Coll Nursing, Clark Hall 325,POB 1881, Milwaukee, WI 53201 USA.
EM norah.johnson@marquette.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Bultas MW, 2012, J PEDIATR NURS, V27, P460, DOI 10.1016/j.pedn.2011.05.005
Carbone PS, 2010, J AUTISM DEV DISORD, V40, P317, DOI 10.1007/s10803-009-0874-5
CDC, 2012, MMWR SURVEILL SUMM, V61, P1
Gray C., 2010, NEW SOCIAL STORY BOO
Holloway I., 2007, NARRATIVE RES NURSIN
Kohler-Riessman C., 2008, NARRATIVE METHODS HU
Levy SE, 2010, J DEV BEHAV PEDIATR, V31, P267, DOI 10.1097/DBP.0b013e3181d5d03b
Lowe K, 2007, J INTELL DISABIL RES, V51, P625, DOI 10.1111/j.1365-2788.2006.00948.x
Lubisch N, 2009, PEDIATR NEUROL, V41, P88, DOI 10.1016/j.pediatrneurol.2009.02.006
Scarpinato N, 2010, J SPEC PEDIATR NURS, V15, P244, DOI 10.1111/j.1744-6155.2010.00244.x
Searcy E, 2001, JAAPA, V14, P39
Souders Margaret C, 2002, Pediatr Nurs, V28, P555
NR 13
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0891-5245
EI 1532-656X
J9 J PEDIATR HEALTH CAR
JI J. Pediatr. Health Care
PD SEP-OCT
PY 2014
VL 28
IS 5
BP 386
EP 393
DI 10.1016/j.pedhc.2013.10.001
PG 8
WC Health Policy & Services; Nursing; Pediatrics
SC Health Care Sciences & Services; Nursing; Pediatrics
GA AP8SQ
UT WOS:000342349600005
PM 24239062
ER
PT J
AU Thompson, DG
Tielsch-Goddard, A
AF Thompson, Debbie Gearner
Tielsch-Goddard, Anna
TI Improving Management of Patients With Autism Spectrum Disorder Having
Scheduled Surgery: Optimizing Practice
SO JOURNAL OF PEDIATRIC HEALTH CARE
LA English
DT Article
DE Autism; autistic spectrum disorders; presurgical assessment; quality
improvement; pediatric; perioperative process
ID CHILDREN; INTERVENTION; DIAGNOSIS; CARE
AB Introduction: Surgical preparation for children with autism spectrum disorders can be a challenge to perioperative staff because of the unique individual needs and behaviors in this population. Most children with autism function best in predictable, routine environments, and being in the hospital and other health care settings can create a stressful situation. This prospective, descriptive, quality improvement project was conducted to optimize best practices for perioperative staff and better individualize the plan of care for the autistic child and his or her family.
Methods: Forty-three patients with a diagnosis of autism or autistic spectrum disorder were seen over 6 months at a suburban pediatric hospital affiliated with a major urban pediatric hospital and had an upcoming scheduled surgery or procedure requiring anesthesia. Caregivers were interviewed before and after surgery to collect information to better help their child cope with their hospital visit.
Results: In an evaluation of project outcomes, data were tabulated and summarized and interview data were qualitatively coded for emerging themes to improve the perioperative process for the child.
Discussion: Findings showed that staff members were able to recognize potential and actual stressors and help identify individual needs of surgical patients with autism. The families were pleased and appreciative of the individual attention and focus on their child's special needs. Investigators also found increased staff interest in optimizing the surgical experience for autistic children.
C1 [Thompson, Debbie Gearner; Tielsch-Goddard, Anna] Childrens Med Ctr Legacy, Perioperat Serv, Plano, TX 75024 USA.
RP Thompson, DG (reprint author), Childrens Med Ctr Legacy, Perioperat Serv, 7601 Preston Rd, Plano, TX 75024 USA.
EM debbie.thompson@childrens.com
CR Autism Speaks, 2013, ATN AIR P VIS SUPP A
Autism Speaks, 2013, VIS AIDS AUT SPECTR
Bryson SE, 2003, CAN J PSYCHIAT, V48, P506
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Hudson J., 2006, PRESCRIPTION SUCCESS
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Van der Walt JH, 2001, PAEDIATR ANAESTH, V11, P401, DOI 10.1046/j.1460-9592.2001.00688.x
NR 19
TC 1
Z9 1
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0891-5245
EI 1532-656X
J9 J PEDIATR HEALTH CAR
JI J. Pediatr. Health Care
PD SEP-OCT
PY 2014
VL 28
IS 5
BP 394
EP 403
DI 10.1016/j.pedhc.2013.09.007
PG 10
WC Health Policy & Services; Nursing; Pediatrics
SC Health Care Sciences & Services; Nursing; Pediatrics
GA AP8SQ
UT WOS:000342349600006
PM 24287372
ER
PT J
AU Mizen, CS
AF Mizen, C. S.
TI Narcissistic disorder and the failure of symbolisation: A Relational
Affective Hypothesis
SO MEDICAL HYPOTHESES
LA English
DT Article
ID BORDERLINE PERSONALITY-DISORDER; EMOTIONAL AWARENESS; ALEXITHYMIA;
AUTISM; ASYMMETRY; CORTEX; SLEEP; LIMBS; FEEL; SELF
AB The psychoanalytic concept of narcissistic disorder is broader than that of Narcissistic Personality Disorder (DSM-5 [1]), underlying a range of Personality Disorders (PD) and their co-morbidities. Existing Mentalisation, Psychoanalytic and Cognitive models, fail to account fully for the emerging evidence of biological, developmental, relational and defensive contributions to narcissistic disorder, nor do they account for the common and variant features of co-morbidities namely Anorexia Nervosa, Somatisation, Substance Misuse and Autistic Spectrum Disorder. Alexithymia and concrete modes of relating are common findings in narcissistic disorder and these co-morbid conditions. Current models do not provide a comprehensive account, on the basis of neuro-scientific and developmental evidence, of how affective feelings come to be represented in words and the association between narcissistic disorders and failures of symbolisation. In this paper I propose an empirically based Relational Affective Hypothesis that narcissistic disorder and its comorbidities represent failures at specific points on a representational function pathway through which subcortical affect and visceral feeling in a relational context become the basis for abstraction and language. The elucidation of this pathway allows investigation of the contribution of biological, social and psychogenic factors in narcissistic disorders. It also brings a new understanding of the neurological underpinning of psychodynamic defences in narcissistic disorders. Research and novel treatment implications are briefly considered. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Mizen, C. S.] Univ Exeter, Sch Psychol, Exeter EX2 5AF, Devon, England.
[Mizen, C. S.] Devon Partnership NHS Trust, Wonford House Hosp, Exeter EX2 5AF, Devon, England.
RP Mizen, CS (reprint author), Univ Exeter, Sch Psychol, Dryden Rd, Exeter EX2 5AF, Devon, England.
EM susanmizen@nhs.net
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Yovell Y, DOUBLE BLIND S UNPUB
NR 64
TC 0
Z9 0
PU CHURCHILL LIVINGSTONE
PI EDINBURGH
PA JOURNAL PRODUCTION DEPT, ROBERT STEVENSON HOUSE, 1-3 BAXTERS PLACE,
LEITH WALK, EDINBURGH EH1 3AF, MIDLOTHIAN, SCOTLAND
SN 0306-9877
EI 1532-2777
J9 MED HYPOTHESES
JI Med. Hypotheses
PD SEP
PY 2014
VL 83
IS 3
BP 254
EP 262
DI 10.1016/j.mehy.2014.05.012
PG 9
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AP7PA
UT WOS:000342268000003
PM 24986704
ER
PT J
AU Kuhn, M
Bransfield, R
AF Kuhn, Mason
Bransfield, Robert
TI Divergent opinions of proper Lyme disease diagnosis and implications for
children co-morbid with autism spectrum disorder
SO MEDICAL HYPOTHESES
LA English
DT Article
ID BORRELIA-BURGDORFERI; SERODIAGNOSIS; ANTIBODIES; IMMUNOBLOT; CRITERIA;
PCR
AB This paper proposes that some children with an autism spectrum disorder (ASD) in the United States have undiagnosed Lyme disease and different testing criteria used by commercial laboratories may be producing false negative results. Two testing protocols will be evaluated; first, the Centers for Disease Control (CDC) and Infectious Disease Society of America (IDSA) approved two-tiered Enzyme Immunoassay (EIA) or Immunofluorescence Assay (IFA) followed by an IgM and/or IgG Western Blot test. Second, a clinical diagnosis (flu like symptoms, joint pain, fatigue, neurological symptoms, etc.) possibly followed by a Western Blot with a broader criteria for positive bands [1]. The hypothesis proposes that the former criteria may be producing false negative results for some individuals diagnosed with an ASD. Through an online survey parents of 48 children who have a diagnosis of an ASD and have been diagnosed with Lyme disease were asked to fill out the Autism Treatment Evaluation Checklist (ATEC) before they started antibiotic therapy and after treatment. Of the 48 parents surveyed 45 of them (94%) indicated their child initially tested negative using the two-tiered CDC/IDSA approved test. The parents sought a second physician who diagnosed their child with Lyme disease using the wider range of Western Blot bands. The children were treated with antibiotics and their scores on the ATEC improved. Anecdotal data indicated that some of the children achieved previously unattained developmental milestones after antibiotic therapy began. Protein bands OSP-A and/or OSP-B (Western Blot band 31) and (Western Blot band 34) were found in 44 of 48 patients. These two bands are so specific to Borrelia burgdorferi that they were targeted for use in vaccine trials, yet are not included in the IDSA interpretation of the Western Blot. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Kuhn, Mason] Univ No Iowa, Dept Curriculum & Instruct, Cedar Falls, IA 50614 USA.
[Bransfield, Robert] Robert Wood Johnson Univ Med & Dent, Sch Med, Camden, NJ 08103 USA.
RP Kuhn, M (reprint author), Univ No Iowa, Dept Curriculum & Instruct, 1227 W 27th St, Cedar Falls, IA 50614 USA.
EM MasonKuhn@hotmail.com; bransfield@comcast.net
CR Ajamian M, 2013, JAMA-J AM MED ASSOC, V309, P1771, DOI 10.1001/jama.2013.618
Autism Research Institute, 2013, EV AUT EV TREATM CHE
Autism Speaks, 2013, AUT SPEAKS SCI ANSW
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NR 27
TC 0
Z9 0
PU CHURCHILL LIVINGSTONE
PI EDINBURGH
PA JOURNAL PRODUCTION DEPT, ROBERT STEVENSON HOUSE, 1-3 BAXTERS PLACE,
LEITH WALK, EDINBURGH EH1 3AF, MIDLOTHIAN, SCOTLAND
SN 0306-9877
EI 1532-2777
J9 MED HYPOTHESES
JI Med. Hypotheses
PD SEP
PY 2014
VL 83
IS 3
BP 321
EP 325
DI 10.1016/j.mehy.2014.06.005
PG 5
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AP7PA
UT WOS:000342268000018
PM 24986703
ER
PT J
AU Oberman, LM
Pascual-Leone, A
AF Oberman, Lindsay M.
Pascual-Leone, Alvaro
TI Hyperplasticity in Autism Spectrum Disorder confers protection from
Alzheimer's disease
SO MEDICAL HYPOTHESES
LA English
DT Article
ID CORTICAL PLASTICITY; STIMULATION; MODEL; GENETICS; CORTEX
AB Autism Spectrum Disorders (ASD) currently affects approximately 1% of the population causing grave disability and necessitating a better understanding of the currently enigmatic etiology of these disorders. Recent data suggest that some patients with ASD may have a dysfunction in brain plasticity (specifically data from animal models and human studies suggest a propensity toward excessive amount of plasticity). Plasticity is essential to the establishment and maintenance of brain circuitry; however, too much plasticity may lead to instability of structural connections and compromise of functional systems necessary for cognition and behavior. Multiple lines of evidence suggest that plasticity declines throughout the age-span and may underlie age-related cognitive decline. We hypothesize that individuals whose cortex begins as relatively "hyperplastic" (such as may be seen in ASD) should then be relatively protected from age-related cognitive decline (which we suggest is related to a reduction in plasticity). In the current study, we conducted a multiple linear regression using age and diagnosis as predictor variables in order to evaluate strength of the relationship between age, diagnosis or an interaction of the two factors and the degree of modulation in cortical excitability by transcranial magnetic stimulation as an index of cortical plasticity. Results indicate that across the age-span individuals with ASD show a consistently increased modulation of cortical excitability as compared to typically developing individuals, such that the general slope of decline across the age span is matched across both groups. We have argued that an individual's risk of age-related cognitive decline (and risk for manifesting symptoms of dementia) depends on the individual's starting point and slopes of change in plasticity efficiency over the lifespan. Therefore, our results suggest that individuals with ASD might be relatively protected from age-related cognitive decline and the risk of dementia. (C) 2014 Published by Elsevier Ltd.
C1 Beth Israel Deaconess Med Ctr, Berenson Allen Ctr Noninvas Brain Stimulat, Div Brain Stimulat & Cognit Training, Dept Neurol, Boston, MA 02215 USA.
Harvard Univ, Sch Med, Cambridge, MA 02138 USA.
RP Pascual-Leone, A (reprint author), Beth Israel Deaconess Med Ctr, Berenson Allen Ctr Noninvas Brain Stimulat, 330 Brookline Ave,KS 158, Boston, MA 02215 USA.
EM apleone@bidmc.harvard.edu
FU National Institutes of Health; National Institute of Mental Health
[1R01MH100186]; Harvard Catalyst \ The Harvard Clinical and
Translational Science Center (NCRR); Harvard Catalyst I The Harvard
Clinical and Translational Science Center (NCATS NIH) [8KL2TR000168-05];
Harvard Clinical and Translational Science Center [8UL1TR000170-05];
Epilepsy Research Foundation; Simons Foundation; Nancy Lurie Marks
Family Foundation; National Institutes of Health [R01HD069776,
R01NS073601, R21 MH099196, R21 NS082870, R21 NS085491, R21 HD07616, UL1
RR025758]; Michael J. Fox Foundation; Sidney R. Baer Foundation
FX Work on the project is supported by grants from the National Institutes
of Health and National Institute of Mental Health (1R01MH100186), and
Harvard Catalyst vertical bar The Harvard Clinical and Translational
Science Center (NCRR and the NCATS NIH 8KL2TR000168-05) Dr. Oberman is
further supported by grants from the Harvard Clinical and Translational
Science Center (8UL1TR000170-05), the Epilepsy Research Foundation, the
Simons Foundation and the Nancy Lurie Marks Family Foundation. Dr.
Pascual-Leone is further supported by grants from the National
Institutes of Health (R01HD069776, R01NS073601, R21 MH099196, R21
NS082870, R21 NS085491, R21 HD07616, UL1 RR025758), Michael J. Fox
Foundation and Sidney R. Baer Foundation.
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NR 21
TC 0
Z9 0
PU CHURCHILL LIVINGSTONE
PI EDINBURGH
PA JOURNAL PRODUCTION DEPT, ROBERT STEVENSON HOUSE, 1-3 BAXTERS PLACE,
LEITH WALK, EDINBURGH EH1 3AF, MIDLOTHIAN, SCOTLAND
SN 0306-9877
EI 1532-2777
J9 MED HYPOTHESES
JI Med. Hypotheses
PD SEP
PY 2014
VL 83
IS 3
BP 337
EP 342
DI 10.1016/j.mehy.2014.06.008
PG 6
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AP7PA
UT WOS:000342268000021
PM 25047996
ER
PT J
AU Stackpole, EE
Akins, MR
Fallon, JR
AF Stackpole, Emily E.
Akins, Michael R.
Fallon, Justin R.
TI N-myristoylation regulates the axonal distribution of the Fragile
X-related protein FXR2P
SO MOLECULAR AND CELLULAR NEUROSCIENCE
LA English
DT Article
DE RNA binding proteins; Myristoylation; Fragile X syndrome; FXR2P
ID MENTAL-RETARDATION PROTEIN; LIVING HIPPOCAMPAL-NEURONS; KINASE-C
SUBSTRATE; MESSENGER-RNA; MOUSE MODEL; FMRP; GRANULES; BINDING; AUTISM;
LOCALIZATION
AB Fragile X syndrome, the leading cause of inherited intellectual disability and autism, is caused by loss of function of Fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein that regulates local protein synthesis in the somatodendritic compartment. However, emerging evidence also indicates important roles for FMRP in axonal and presynaptic functions. In particular, FMRP and its homologue FXR2P localize axonally and presynaptically to discrete endogenous structures in the brain termed Fragile X granules (FXGs). FXR2P is a component of all FXGs and is necessary for the axonal and presynaptic localization of FMRP to these structures. We therefore sought to identify and characterize structural features of FXR2P that regulate its axonal localization. Sequence analysis reveals that FXR2P harbors a consensus N-terminal myristoylation sequence (MGXXXS) that is absent in FMRP. Using click chemistry with wild type and an unmyristoylatable G2A mutant we demonstrate that FXR2P is N-myristoylated on glycine 2, establishing it as a lipid-modified RNA binding protein. To-investigate the role of FXR2P N-myristoylation in neurons we generated fluorescently tagged wild type and unmyristoylatable FXR2P (WT and G2A, respectively) and expressed them in primary cortical cultures. Both FXR2P(WT) and FXR2P(G2A) are expressed at equivalent overall levels and are capable of forming FMRP-containing axonal granules. However, FXR2P(WT) granules are largely restricted to proximal axonal segments while granules formed with unmyristoylatable FXR2PG2A are localized throughout the axonal arbor, including in growth cones. These studies indicate that N-terminal myristoylation of the RNA binding protein FXR2P regulates its localization within the axonal arbor. Moreover, since FMRP localization within axonal domains requires its association with FXR2P, these findings suggest that FXR2P lipid modification is a control point for the axonal and presynaptic distribution of FMRP. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Stackpole, Emily E.; Akins, Michael R.; Fallon, Justin R.] Brown Univ, Dept Neurosci, Providence, RI 02912 USA.
[Akins, Michael R.] Drexel Univ, Dept Biol, Philadelphia, PA 19104 USA.
RP Fallon, JR (reprint author), Brown Univ, Dept Neurosci, Box G-LN, Providence, RI 02912 USA.
EM Justin_Fallon@brown.edu
FU [HD052083]; [MH090237]
FX We thank B. McKechnie and C. Schmiedel for technical assistance and E.
Morrow for the use of the Neurolucida programs. We also thank T. Hughes
for the generous gift of the pBNJ24.6 vector. Grant support: HD052083 to
JRF and MH090237 to MRA.
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NR 54
TC 1
Z9 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1044-7431
EI 1095-9327
J9 MOL CELL NEUROSCI
JI Mol. Cell. Neurosci.
PD SEP
PY 2014
VL 62
BP 42
EP 50
DI 10.1016/j.mcn.2014.08.003
PG 9
WC Neurosciences
SC Neurosciences & Neurology
GA AP8MZ
UT WOS:000342334400005
PM 25109237
ER
PT J
AU Borre, YE
O'Keeffe, GW
Clarke, G
Stanton, C
Dinan, TG
Cryan, JF
AF Borre, Yuliya E.
O'Keeffe, Gerard W.
Clarke, Gerard
Stanton, Catherine
Dinan, Timothy G.
Cryan, John F.
TI Microbiota and neurodevelopmental windows: implications for brain
disorders
SO TRENDS IN MOLECULAR MEDICINE
LA English
DT Review
DE brain-gut axis; stress; neurogastroenterology; microbiome; brain
disorders; autism
ID AUTISM SPECTRUM DISORDERS; HUMAN INTESTINAL MICROBIOTA;
INFLAMMATORY-BOWEL-DISEASE; HUMAN PREFRONTAL CORTEX;
CENTRAL-NERVOUS-SYSTEM; ANXIETY-LIKE BEHAVIOR; GUT MICROBIOTA; LEAKY
GUT; CAMPYLOBACTER-JEJUNI; VAGAL-AFFERENTS
AB Gut microbiota is essential to human health, playing a major role in the bidirectional communication between the gastrointestinal tract and the central nervous system. The microbiota undergoes a vigorous process of development throughout the lifespan and establishes its symbiotic rapport with the host early in life. Early life perturbations of the developing gut microbiota can impact neurodevelopment and potentially lead to adverse mental health outcomes later in life. This review compares the parallel early development of the intestinal microbiota and the nervous system. The concept of parallel and interacting microbial-neural critical windows opens new avenues for developing novel microbiota-modulating based therapeutic interventions in early life to combat neurodevelopmental deficits and brain disorders.
C1 [Borre, Yuliya E.; Clarke, Gerard; Dinan, Timothy G.; Cryan, John F.] Natl Univ Ireland Univ Coll Cork, Alimentary Pharmabiot Ctr, Lab NeuroGastroenterol, Cork, Ireland.
[O'Keeffe, Gerard W.; Cryan, John F.] Natl Univ Ireland Univ Coll Cork, Dept Anat & Neurosci, Cork, Ireland.
[O'Keeffe, Gerard W.] Cork Univ Matern Hosp, INFANT, Irish Ctr Fetal & Neonatal Translat Res, Cork, Ireland.
[Clarke, Gerard; Stanton, Catherine; Dinan, Timothy G.] Natl Univ Ireland Univ Coll Cork, Dept Psychiat, Cork, Ireland.
[Stanton, Catherine] Teagasc Food Res Ctr, Cork, Ireland.
RP Cryan, JF (reprint author), Natl Univ Ireland Univ Coll Cork, Alimentary Pharmabiot Ctr, Lab NeuroGastroenterol, Cork, Ireland.
EM j.cryan@ucc.ie
RI Stanton, Catherine/A-9549-2015
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NR 114
TC 17
Z9 18
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1471-4914
EI 1471-499X
J9 TRENDS MOL MED
JI Trends Mol. Med
PD SEP
PY 2014
VL 20
IS 9
BP 509
EP 518
DI 10.1016/j.molmed.2014.05.002
PG 10
WC Biochemistry & Molecular Biology; Cell Biology; Medicine, Research &
Experimental
SC Biochemistry & Molecular Biology; Cell Biology; Research & Experimental
Medicine
GA AP7PP
UT WOS:000342269500007
PM 24956966
ER
PT J
AU Schoen, SA
Miller, LJ
Sullivan, JC
AF Schoen, Sarah A.
Miller, Lucy J.
Sullivan, Jillian C.
TI Measurement in Sensory Modulation: The Sensory Processing Scale
Assessment
SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY
LA English
DT Article
DE reproducibility of results; sensation disorders; sensory thresholds;
somatosensory disorders
ID YOUNG-CHILDREN; DEVELOPMENTAL DELAYS; TYPICAL DEVELOPMENT;
PRESCHOOL-CHILDREN; OVER-RESPONSIVITY; DAILY-LIFE; AUTISM; DISORDERS;
ADHD; DIAGNOSIS
AB OBJECTIVE. Sensory modulation issues have a significant impact on participation in daily life. Moreover, understanding phenotypic variation in sensory modulation dysfunction is crucial for research related to defining homogeneous groups and for clinical work in guiding treatment planning. We thus evaluated the new Sensory Processing Scale (SPS) Assessment.
METHOD. Research included item development, behavioral scoring system development, test administration, and item analyses to evaluate reliability and validity across sensory domains.
RESULTS. Items with adequate reliability (internal reliability >.4) and discriminant validity (p < .01) were retained. Feedback from the expert panel also contributed to decisions about retaining items in the scale.
CONCLUSION. The SPS Assessment appears to be a reliable and valid measure of sensory modulation (scale reliability >.90; discrimination between group effect sizes >1.00). This scale has the potential to aid in differential diagnosis of sensory modulation issues.
C1 [Schoen, Sarah A.; Miller, Lucy J.; Sullivan, Jillian C.] Sensory Proc Disorder Fdn, Greenwood Village, CO 80111 USA.
[Schoen, Sarah A.; Miller, Lucy J.] Rocky Mt Univ Hlth Profess, Provo, UT USA.
[Miller, Lucy J.] STAR Ctr, Greenwood Village, CO USA.
[Miller, Lucy J.] Univ Colorado Denver, Dept Pediat, Denver, CO USA.
RP Schoen, SA (reprint author), Sensory Proc Disorder Fdn, 5420 South Quebec St,Suite 135, Greenwood Village, CO 80111 USA.
EM schoen@spdfoundation.net
CR American Psychiatric Association, 2013, DIAGNOSTIC AND STATI
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Zero to Three, 2005, DIAGNOSTIC CLASSIFIC
NR 38
TC 2
Z9 2
PU AMER OCCUPATIONAL THERAPY ASSOC, INC
PI BETHESDA
PA 4720 MONTGOMERY LANE, BETHESDA, MD 20814-3425 USA
SN 0272-9490
EI 1943-7676
J9 AM J OCCUP THER
JI Am. J. Occup. Ther.
PD SEP-OCT
PY 2014
VL 68
IS 5
SI SI
BP 522
EP 530
DI 10.5014/ajot.2014.012377
PG 9
WC Rehabilitation
SC Rehabilitation
GA AO9MB
UT WOS:000341678700005
PM 25184464
ER
PT J
AU Doorenweerd, N
Straathof, CS
Dumas, EM
Spitali, P
Ginjaar, IB
Wokke, BH
Schrans, DG
van den Bergen, JC
van Zwet, EW
Webb, A
van Buchem, MA
Verschuuren, JJ
Hendriksen, JG
Niks, EH
Kan, HE
AF Doorenweerd, Nathalie
Straathof, Chiara S.
Dumas, Eve M.
Spitali, Pietro
Ginjaar, Ieke B.
Wokke, Beatrijs H.
Schrans, Debby G.
van den Bergen, Janneke C.
van Zwet, Erik W.
Webb, Andrew
van Buchem, Mark A.
Verschuuren, Jan J.
Hendriksen, Jos G.
Niks, Erik H.
Kan, Hermien E.
TI Reduced Cerebral Gray Matter and Altered White Matter in Boys with
Duchenne Muscular Dystrophy
SO ANNALS OF NEUROLOGY
LA English
DT Article
ID AUTISM SPECTRUM DISORDER; CENTRAL-NERVOUS-SYSTEM; BRAIN-DEVELOPMENT;
MR-IMAGES; CHILDREN; NEURONS; CORTEX; MALES; DMD; QUESTIONNAIRE
AB Objective: Duchenne muscular dystrophy (DMD) is characterized by progressive muscle weakness caused by DMD gene mutations leading to absence of the full-length dystrophin protein in muscle. Multiple dystrophin isoforms are expressed in brain, but little is known about their function. DMD is associated with specific learning and behavioral disabilities that are more prominent in patients with mutations in the distal part of the DMD gene, predicted to affect expression of shorter protein isoforms. We used quantitative magnetic resonance (MR) imaging to study brain microstructure in DMD.
Methods: T1-weighted and diffusion tensor images were obtained on a 3T MR scanner from 30 patients and 22 age-matched controls (age = 8-18 years). All subjects underwent neuropsychological examination. Group comparisons on tissue volume and diffusion tensor imaging parameters were made between DMD patients and controls, and between 2 DMD subgroups that were classified according to predicted Dp140 isoform expression (DMD_Dp140(+) and DMD_Dp140(-)).
Results: DMD patients had smaller total brain volume, smaller gray matter volume, lower white matter fractional anisotropy, and higher white matter mean and radial diffusivity than healthy controls. DMD patients also performed worse on neuropsychological examination. Subgroup analyses showed that DMD_Dp140(-) subjects contributed most to the gray matter volume differences and performed worse on information processing.
Interpretation: Both gray and white matter is affected in boys with DMD at a whole brain level. Differences between the DMD_Dp140(-) subgroup and controls indicate an important role for the Dp140 dystrophin isoform in cerebral development.
C1 [Doorenweerd, Nathalie; Webb, Andrew; van Buchem, Mark A.; Kan, Hermien E.] Leiden Univ, Med Ctr, Dept Radiol, CJ Gorter Ctr High Field MRI, NL-2333 ZA Leiden, Netherlands.
[Doorenweerd, Nathalie; Kan, Hermien E.] Leiden Inst Brain & Cognit, Leiden, Netherlands.
[Doorenweerd, Nathalie; Straathof, Chiara S.; Dumas, Eve M.; Wokke, Beatrijs H.; van den Bergen, Janneke C.; Verschuuren, Jan J.; Niks, Erik H.] Leiden Univ, Med Ctr, Dept Neurol, NL-2333 ZA Leiden, Netherlands.
[Spitali, Pietro] Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands.
[Ginjaar, Ieke B.] Leiden Univ, Med Ctr, Dept Clin Genet, NL-2333 ZA Leiden, Netherlands.
[Schrans, Debby G.; Hendriksen, Jos G.] Kempenhaeghe Epilepsy Ctr, Dept Neurol Learning Disabil, Heeze, Netherlands.
[van Zwet, Erik W.] Leiden Univ, Med Ctr, Dept Med Stat, NL-2333 ZA Leiden, Netherlands.
[Hendriksen, Jos G.] Maastricht Univ, Med Ctr, Dept Neurol, Maastricht, Netherlands.
RP Doorenweerd, N (reprint author), Leiden Univ, Med Ctr, Dept Radiol, C-03-Q,Albinusdreef2, NL-2333 ZA Leiden, Netherlands.
EM N.Doorenweerd@lumc.nl
RI Kan, Hermien/L-2385-2013
OI Kan, Hermien/0000-0002-5772-7177
FU Duchenne Parent Project NL; Gratama Stichting
FX The sponsors, Duchenne Parent Project NL and Gratama Stichting, had no
role in study design, data collection, data analysis, data
interpretation, or writing of the report.
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NR 40
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0364-5134
EI 1531-8249
J9 ANN NEUROL
JI Ann. Neurol.
PD SEP
PY 2014
VL 76
IS 3
BP 403
EP 411
DI 10.1002/ana.24222
PG 9
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AP6RG
UT WOS:000342204500011
PM 25043804
ER
PT J
AU Monnier, M
Jaunin, L
Graz, MB
Tolsa, CB
Huppi, P
Rossignol, AS
Barisnikov, K
Guex, MF
AF Monnier, M.
Jaunin, L.
Graz, M. Bickle
Tolsa, C. Borradori
Hueppi, P.
Rossignol, A. Sancho
Barisnikov, K.
Guex, M. Forcada
TI Detection of executive function disorders with a standard
neurodevelopmental follow-up of premature children
SO ARCHIVES DE PEDIATRIE
LA French
DT Article
ID LOW-BIRTH-WEIGHT; SCHOOL-AGED CHILDREN; PRETERM INFANTS; NEUROBEHAVIORAL
OUTCOMES; BORN; ATTENTION; METAANALYSIS; MORTALITY; AND/OR
AB Introduction. A significant proportion of prematurely born children encounter behavioral difficulties, such as attention deficit or hyperactivity, which could be due to executive function disorders.
Aims. To examine whether the standard neurodevelopmental assessment offered to premature children in Switzerland recognizes executive function disorders.
Methods. The study population consisted of 49 children born before 29 weeks of gestation who were examined between 5 and 6 years of age with a standard assessment, with additional items to assess executive functioning. Children with severe neurodevelopmental impairment were excluded (mental retardation, cerebral palsy, autism). Standard assessment consisted in the Kaufman Assessment Battery for Children (K-ABC), which comprises three subscales: sequential processes (analysis of sequential information), simultaneous processes (global analysis of visual information), and composite mental processes (CMP) (result of the other two scales), as well as a behavioral evaluation using the standardized Strengths and Difficulties Questionnaire (SDQ). Executive functioning was assessed with tasks evaluating visual attention, divided attention, and digit memory as well as with a specialized questionnaire, the Behavior Rating Index of Executive Functions (BRIEF), which evaluates several aspects of executive function (regulation, attention, flexibility, working memory, etc).
Results. Children were divided according to their results on the three K-ABC scales (< or >85), and the different neuropsychological tasks assessing executive function were compared between the groups. The CMP did not differentiate children with executive difficulties, whereas a score < 85 on the sequential processes was significantly associated with worse visual and divided attention. There was a strong correlation between the SDQ and the BRIEF questionnaires. For both questionnaires, children receiving psychotherapy had significantly higher results. Children who presented behavioral problems assessed with the SDQ presented. significantly higher scores on the BRIEF.
Conclusion. A detailed analysis of the standard neurodevelopmental assessment allows the identification of executive function disorders in premature children. Children who performed below 85 on the sequential processes of the K-ABC had significantly more attentional difficulties on the neuropsychological tasks and therefore have to be recognized and carefully followed. Emotional regulation had a strong correlation with behavioral difficulties, which were suitably assessed with the SDQ, recognized by the families, and treated. (C) 2014 Published by Elsevier Masson SAS.
C1 [Monnier, M.; Jaunin, L.; Graz, M. Bickle; Guex, M. Forcada] CHU Vaudois, Dept Medicochirurg Pediat, Serv Neonatol, Unite Dev, Lausanne, Switzerland.
[Tolsa, C. Borradori; Hueppi, P.; Rossignol, A. Sancho] HUG, Dept Pediat, Serv Dev & Croissance, Geneva, Switzerland.
[Barisnikov, K.] Univ Geneva, Fac Psychol & Sci Educ, Unite Psychol Clin & Neuropsychol Enfant, Geneva, Switzerland.
RP Monnier, M (reprint author), CHU Vaudois, Dept Medicochirurg Pediat, Serv Neonatol, Unite Dev, Lausanne, Switzerland.
EM maryliyne.monnier@chuv.ch
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NR 31
TC 0
Z9 0
PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
PI PARIS
PA 23 RUE LINOIS, 75724 PARIS, FRANCE
SN 0929-693X
EI 1769-664X
J9 ARCH PEDIATRIE
JI Arch. Pediatr.
PD SEP
PY 2014
VL 21
IS 9
BP 944
EP 952
DI 10.1016/j.arcped.2014.04.032
PG 9
WC Pediatrics
SC Pediatrics
GA AP6KZ
UT WOS:000342188000005
PM 25104578
ER
PT J
AU Golden, JA
AF Golden, J. A.
TI Introduction into autism genetics
SO BRAIN PATHOLOGY
LA English
DT Meeting Abstract
CT 18th International Congress of Neuropathology
CY SEP 14-18, 2014
CL Rio de Janeiro, BRAZIL
C1 [Golden, J. A.] Harvard Univ, Sch Med, Dept Pathol, Brigham & Womens Hosp, Cambridge, MA 02138 USA.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1015-6305
EI 1750-3639
J9 BRAIN PATHOL
JI Brain Pathol.
PD SEP
PY 2014
VL 24
SU 1
SI SI
BP 36
EP 37
PG 2
WC Clinical Neurology; Neurosciences; Pathology
SC Neurosciences & Neurology; Pathology
GA AP6CT
UT WOS:000342165800139
ER
PT J
AU Anderson, M
AF Anderson, M.
TI Crossing the equator: Ube3a in Idic15 autism and Angelman syndrome
SO BRAIN PATHOLOGY
LA English
DT Meeting Abstract
CT 18th International Congress of Neuropathology
CY SEP 14-18, 2014
CL Rio de Janeiro, BRAZIL
C1 [Anderson, M.] Harvard Univ, Sch Med, Beth Israel Deaconess Med Ctr, Dept Pathol, Cambridge, MA 02138 USA.
[Anderson, M.] Harvard Univ, Sch Med, Autism BrainNET, Cambridge, MA 02138 USA.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1015-6305
EI 1750-3639
J9 BRAIN PATHOL
JI Brain Pathol.
PD SEP
PY 2014
VL 24
SU 1
SI SI
BP 37
EP 37
PG 1
WC Clinical Neurology; Neurosciences; Pathology
SC Neurosciences & Neurology; Pathology
GA AP6CT
UT WOS:000342165800142
ER
PT J
AU Hutsler, J
AF Hutsler, J.
TI Cortical organization and synaptic culling in individuals with autism
SO BRAIN PATHOLOGY
LA English
DT Meeting Abstract
CT 18th International Congress of Neuropathology
CY SEP 14-18, 2014
CL Rio de Janeiro, BRAZIL
C1 [Hutsler, J.] Univ Nevada, Dept Psychol, Reno, NV 89557 USA.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1015-6305
EI 1750-3639
J9 BRAIN PATHOL
JI Brain Pathol.
PD SEP
PY 2014
VL 24
SU 1
SI SI
BP 37
EP 37
PG 1
WC Clinical Neurology; Neurosciences; Pathology
SC Neurosciences & Neurology; Pathology
GA AP6CT
UT WOS:000342165800141
ER
PT J
AU Wisniewski, T
AF Wisniewski, T.
TI Brain region specific alterations of neuronal number and volume in
autism
SO BRAIN PATHOLOGY
LA English
DT Meeting Abstract
CT 18th International Congress of Neuropathology
CY SEP 14-18, 2014
CL Rio de Janeiro, BRAZIL
C1 [Wisniewski, T.] NYU, Sch Med, Dept Neurol Psychiat & Pathol, New York, NY 10003 USA.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1015-6305
EI 1750-3639
J9 BRAIN PATHOL
JI Brain Pathol.
PD SEP
PY 2014
VL 24
SU 1
SI SI
BP 37
EP 37
PG 1
WC Clinical Neurology; Neurosciences; Pathology
SC Neurosciences & Neurology; Pathology
GA AP6CT
UT WOS:000342165800140
ER
PT J
AU Wainer, J
Robins, B
Amirabdollahian, F
Dautenhahn, K
AF Wainer, Joshua
Robins, Ben
Amirabdollahian, Farshid
Dautenhahn, Kerstin
TI Using the Humanoid Robot KASPAR to Autonomously Play Triadic Games and
Facilitate Collaborative Play Among Children With Autism
SO IEEE TRANSACTIONS ON AUTONOMOUS MENTAL DEVELOPMENT
LA English
DT Article
DE Autism; autonomous robots; human-robot interaction; humanoid robots;
therapeutic robots
ID SPECTRUM DISORDERS; JOINT ATTENTION; IMITATION; THERAPY; AGENT
AB This paper presents a novel design, implementation, and first evaluation of a triadic, collaborative game involving the humanoid robot, kinesics and synchronization in personal assistant robotics (KASPAR), playing games with pairs of children with autism. Children with autism have impaired social communication and social interaction skills which make it difficult for them to participate in many different forms of social and collaborative play. Our proof-of-concept 10-week, long term study demonstrates how a humanoid robot can be used to foster and support collaborative play among children with autism. In this work, KASPAR operates fully autonomously, and uses information on the state of the game and behavior of the children to engage, motivate, encourage, and advise pairs of children playing an imitation game. Results are presented from a first evaluation study which examined whether having pairs of children with autism play an imitative, collaborative game with a humanoid robot affected the way these children would play the same game without the robot. Our initial evaluation involved six children with autism who each participated in 23 controlled play sessions both with and without the robot, using a specially designed imitation-based collaborative game. In total 78 play sessions were run. Detailed observational analyses of the children's behaviors indicated that different pairs of children with autism showed improved social behaviors in playing with each other after they played as pairs with the robot KASPAR compared to before they did so. These results are encouraging and provide a proof-of-concept of using an autonomously operating robot to encourage collaborative skills among children with autism.
C1 [Wainer, Joshua; Robins, Ben; Amirabdollahian, Farshid; Dautenhahn, Kerstin] Univ Hertfordshire, Adapt Syst Res Grp, Sch Comp Sci, Hatfield AL10 9AB, Herts, England.
RP Wainer, J (reprint author), Univ Hertfordshire, Adapt Syst Res Grp, Sch Comp Sci, Hatfield AL10 9AB, Herts, England.
EM wainer.joshua@gmail.com; b.robins@herts.ac.uk;
f.amirabdol-lahian2@herts.ac.uk; k.dautenhahn@herts.ac.uk
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NR 64
TC 0
Z9 0
PU IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC
PI PISCATAWAY
PA 445 HOES LANE, PISCATAWAY, NJ 08855-4141 USA
SN 1943-0604
EI 1943-0612
J9 IEEE T AUTON MENT DE
JI IEEE Trans. Auton. Ment. Dev.
PD SEP
PY 2014
VL 6
IS 3
BP 183
EP 199
DI 10.1109/TAMD.2014.2303116
PG 17
WC Computer Science, Artificial Intelligence; Robotics; Neurosciences
SC Computer Science; Robotics; Neurosciences & Neurology
GA AP5JL
UT WOS:000342115400002
ER
PT J
AU Boucenna, S
Anzalone, S
Tilmont, E
Cohen, D
Chetouani, M
AF Boucenna, Sofiane
Anzalone, Salvatore
Tilmont, Elodie
Cohen, David
Chetouani, Mohamed
TI Learning of Social Signatures Through Imitation Game Between a Robot and
a Human Partner
SO IEEE TRANSACTIONS ON AUTONOMOUS MENTAL DEVELOPMENT
LA English
DT Article
DE Autism spectrum disorder; human-robot interaction; imitation;
sensory-motor architecture
ID AUTISM SPECTRUM DISORDERS; DEVELOPMENTAL ROBOTICS; ASSISTIVE ROBOTICS;
DEPRESSED MOTHERS; COMMUNICATION; CHILDREN; INFANTS; RECOGNITION;
DEMONSTRATIONS; INDIVIDUALS
AB In this paper, a robot learns different postures by imitating several partners. We assessed the effect of the type of partners, i.e., adults, typically developing (TD) children and children with autism spectrum disorder (ASD), on robot learning during an imitation game. The experimental protocol was divided into two phases: 1) a learning phase, during which the robot produced a random posture and the partner imitated the robot; and 2) a phase in which the roles were reversed and the robot had to imitate the posture of the human partner. Robot learning was based on a sensory-motor architecture whereby neural networks (N.N.) enabled the robot to associate what it did with what it saw. Several metrics (i.e., annotation, the number of neurons needed to learn, and normalized mutual information) were used to show that the partners affected robot learning. The first result obtained was that learning was easier with adults than with both groups of children, indicating a developmental effect. Second, learning was more complex with children with ASD compared to both adults and TD children. Third, learning with the more complex partner first (i.e., children with ASD) enabled learning to be more easily generalized.
C1 [Boucenna, Sofiane; Anzalone, Salvatore; Tilmont, Elodie; Chetouani, Mohamed] Univ Paris 06, CNRS, UMR 7222, Inst Syst Intelligents & Robot, Paris, France.
[Cohen, David] Univ Paris 06, Grp Hosp Piti SalpAtrire, AP HP, Dept Child & Adolescent Psychiat, Paris, France.
RP Boucenna, S (reprint author), Univ Paris 06, CNRS, UMR 7222, Inst Syst Intelligents & Robot, Paris, France.
EM sofiane.boucenna@gmail.com; anza-lone@isir.upmc.fr;
elodie.tilmont@isir.upmc.fr; david.cohen@psl.aphp.fr;
mohamed.chetouani@upmc.fr
FU European Commission [288241]; endowment fund "Entreprendre pour aider"
FX This work was supported by the European Commission (FP7: MICHELANGELO
under Grant 288241) and the endowment fund "Entreprendre pour aider."
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TC 0
Z9 0
PU IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC
PI PISCATAWAY
PA 445 HOES LANE, PISCATAWAY, NJ 08855-4141 USA
SN 1943-0604
EI 1943-0612
J9 IEEE T AUTON MENT DE
JI IEEE Trans. Auton. Ment. Dev.
PD SEP
PY 2014
VL 6
IS 3
BP 213
EP 225
DI 10.1109/TAMD.2014.2319861
PG 13
WC Computer Science, Artificial Intelligence; Robotics; Neurosciences
SC Computer Science; Robotics; Neurosciences & Neurology
GA AP5JL
UT WOS:000342115400004
ER
PT J
AU Calahorro, F
AF Calahorro, Fernando
TI Conserved and divergent processing of neuroligin and neurexin genes:
from the nematode C-elegans to human
SO INVERTEBRATE NEUROSCIENCE
LA English
DT Review
DE Neuroligin; Neurexin; Alternative splicing; Autism; C. elegans
ID INHIBITORY SYNAPTIC-TRANSMISSION; ALPHA-NEUREXINS; BETA-NEUREXINS;
DROSOPHILA NEUREXIN; DEFICIENT MUTANTS; CELL-ADHESION; CA2+ CHANNELS;
AUTISM; SYNAPSES; RECEPTOR
AB Neuroligins are cell-adhesion proteins that interact with neurexins at the synapse. This interaction may contribute to differentiation, plasticity and specificity of synapses. In humans, single mutations in neuroligin-encoding genes are implicated in autism spectrum disorder and/or mental retardation. Moreover, some copy number variations and point mutations in neurexin-encoding genes have been linked to neurodevelopmental disorders including autism. Neurexins are subject to extensive alternative splicing, highly regulated in mammals, with a great physiological importance. In addition, neuroligins and neurexins are subjected to proteolytic processes that regulate synaptic transmission modifying pre- and postsynaptic activities and may also regulate the remodelling of spines at specific synapses. Four neuroligin genes exist in mice and five in human, whilst in the nematode Caenorhabditis elegans, there is only one orthologous gene. In a similar manner, in mammals, there are three neurexin genes, each of them encoding two major isoforms named alpha and beta, respectively. In contrast, there is one neurexin gene in C. elegans that also generates two isoforms like mammals. The complexity of the genetic organization of neurexins is due to extensive processing resulting in hundreds of isoforms. In this review, a wide comparison is made between the genes in the nematode and human with a view to better understanding the conservation of processing in these synaptic proteins in C. elegans, which may serve as a genetic model to decipher the synaptopathies underpinning neurodevelopmental disorders such as autism.
C1 Univ Southampton, Ctr Biol Sci, Southampton SO17 1BJ, Hants, England.
RP Calahorro, F (reprint author), Univ Southampton, Ctr Biol Sci, Life Sci Bldg 85, Southampton SO17 1BJ, Hants, England.
EM F.Calahorro@soton.ac.uk
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Vaags AK, 2012, AM J HUM GENET, V90, P133, DOI 10.1016/j.ajhg.2011.11.025
Varoqueaux F, 2006, NEURON, V51, P741, DOI 10.1016/j.neuron.2006.09.003
Xu Jun-Yu, 2012, Shengli Xuebao, V64, P550
Zeng XK, 2007, FEBS LETT, V581, P2509, DOI 10.1016/j.febslet.2007.04.068
Zhang WQ, 2005, J NEUROSCI, V25, P4330, DOI 10.1523/JNEUROSCI.0497-05.2005
NR 78
TC 1
Z9 1
PU SPRINGER HEIDELBERG
PI HEIDELBERG
PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY
SN 1354-2516
EI 1439-1104
J9 INVERTEBR NEUROSCI
JI Invertebr. Neurosci.
PD SEP
PY 2014
VL 14
IS 2
BP 79
EP 90
DI 10.1007/s10158-014-0173-5
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AP4VG
UT WOS:000342076500002
PM 25148907
ER
PT J
AU Holt, GB
AF Holt, Gerhard B.
TI Fixed-Effects Models and Diagnosing Psychiatric Disorders
SO JAMA PSYCHIATRY
LA English
DT Letter
ID AUTISM
C1 [Holt, Gerhard B.] Codman Grp, Philadelphia, PA USA.
RP Holt, GB (reprint author), Codman Grp, POB 865, Narberth, PA 19072 USA.
EM ghol7955@med.usyd.edu.au
CR D'Onofrio BM, 2014, JAMA PSYCHIAT, V71, P432, DOI 10.1001/jamapsychiatry.2013.4525
Gillberg C, 2006, J AUTISM DEV DISORD, V36, P429, DOI 10.1007/s10803-006-0081-6
Jick H, 2003, EPIDEMIOLOGY, V14, P630, DOI 10.1097/01.EDE.0000082044.88833.c4
Taylor B, 2013, BMJ OPEN
NR 4
TC 0
Z9 0
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA
SN 2168-622X
EI 2168-6238
J9 JAMA PSYCHIAT
JI JAMA Psychiatry
PD SEP
PY 2014
VL 71
IS 9
BP 1077
EP 1078
PG 2
WC Psychiatry
SC Psychiatry
GA AP0SV
UT WOS:000341775300015
PM 25188260
ER
PT J
AU Siegel, M
Beresford, CA
Bunker, M
Verdi, M
Vishnevetsky, D
Karlsson, C
Teer, O
Stedman, A
Smith, KA
AF Siegel, Matthew
Beresford, Carol A.
Bunker, Madisun
Verdi, Mary
Vishnevetsky, Donna
Karlsson, Cassie
Teer, Olivia
Stedman, Amy
Smith, Kahsi A.
TI Preliminary Investigation of Lithium for Mood Disorder Symptoms in
Children and Adolescents with Autism Spectrum Disorder
SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY
LA English
DT Article
AB Objective: Children with autism spectrum disorder (ASD) have higher rates of comorbid psychiatric disorders, including mood disorders, than the general child population. Although children with ASD may experience irritability (aggression, self-injury, and tantrums), a portion also experience symptoms that are typical of a mood disorder, such as euphoria/elevated mood, mania, hypersexuality, paranoia, or decreased need for sleep. Despite lithium's established efficacy in controlling mood disorder symptoms in the neurotypical population, lithium has been rarely studied in children with ASD.
Methods: We performed a retrospective chart review of 30 children and adolescents diagnosed with ASD by the Diagnostic and Statistical Manual of Mental Disorders, 4th ed., Text Revision (DSM-IV-TR) criteria who were prescribed lithium in order to assess target symptoms, safety, and tolerability. Clinical Global Impressions - Improvement (CGI-I) ratings were performed by two board-certified child psychiatrists with expertise in ASD. CGI-I scores were dichotomized into "improved'' (CGI-I score of 1 or 2) or "not improved'' (CGI-I score >= 3).
Results: Forty-three percent of patients who received lithium were rated as "improved'' on the CGI-I. Seventy-one percent of patients who had two or more pretreatment mood disorder symptoms were rated as "improved.'' The presence of mania (p = 0.033) or euphoria/elevated mood (p = 0.041) were the pretreatment symptoms significantly associated with an "improved'' rating. The mean lithium blood level was 0.70 mEq/L (SD = 0.26), and the average length of lithium treatment was 29.7 days (SD = 23.9). Forty-seven percent of patients were reported to have at least one side effect, most commonly vomiting (13%), tremor (10%), fatigue (10%), irritability (7%), and enuresis (7%).
Conclusions: This preliminary assessment of lithium in children and adolescents with ASD suggests that lithium may be a medication of interest for those who exhibit two or more mood disorder symptoms, particularly mania or euphoria/elevated mood. A relatively high side effect rate merits caution, and these results are limited by the retrospective, uncontrolled study design. Future study of lithium in a prospective trial with treatment-sensitive outcome measures may be indicated.
C1 [Siegel, Matthew] Tufts Univ, Sch Med, Dept Psychiat, Boston, MA 02111 USA.
[Siegel, Matthew; Bunker, Madisun; Verdi, Mary; Teer, Olivia; Stedman, Amy] Spring Harbor Hosp, Westbrook, ME 04092 USA.
[Siegel, Matthew; Smith, Kahsi A.] Maine Med Ctr, Res Inst, Scarborough, ME USA.
[Beresford, Carol A.; Vishnevetsky, Donna; Karlsson, Cassie] Univ Colorado, Denver, CO 80202 USA.
[Beresford, Carol A.] Childrens Hosp, Aurora, CO USA.
RP Siegel, M (reprint author), Spring Harbor Hosp, 123 Andover Rd, Westbrook, ME 04092 USA.
EM siegem@springharbor.org
FU Maine Medical Center Research Institute; Pond Family Foundation
FX This work was performed with general support from the Maine Medical
Center Research Institute and the Pond Family Foundation.
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
CAMPBELL M, 1972, J AUTISM CHILD SCHIZ, V2, P234, DOI 10.1007/BF01537617
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STEINGARD R, 1987, J AM ACAD CHILD PSY, V26, P932, DOI 10.1097/00004583-198726060-00021
NR 9
TC 0
Z9 0
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1044-5463
EI 1557-8992
J9 J CHILD ADOL PSYCHOP
JI J. Child Adolesc. Psychopharmacol.
PD SEP
PY 2014
VL 24
IS 7
BP 399
EP 402
DI 10.1089/cap.2014.0019
PG 4
WC Pediatrics; Pharmacology & Pharmacy; Psychiatry
SC Pediatrics; Pharmacology & Pharmacy; Psychiatry
GA AP6CD
UT WOS:000342164200006
PM 25093602
ER
PT J
AU Henry, CA
Nowinski, L
Koesterer, K
Ferrone, C
Spybrook, J
Bauman, M
AF Henry, Charles A.
Nowinski, Lisa
Koesterer, Karmen
Ferrone, Christine
Spybrook, Jessaca
Bauman, Margaret
TI Low Rates of Depressed Mood and Depression Diagnoses in a Clinic Review
of Children and Adolescents with Autistic Disorder
SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY
LA English
DT Article
ID SPECTRUM DISORDERS; INTELLECTUAL DISABILITY; PSYCHIATRIC-DISORDERS;
INFANTILE-AUTISM; SYMPTOMS; BEHAVIOR; ADULTS; CHILDHOOD; ANXIETY
AB Objectives: The purpose of this study was to investigate the prevalence of depression diagnoses and related clinical data in an outpatient sample of youth with autistic disorder.
Methods: Records of 123 psychiatrically referred children and adolescents with a Diagnostic and Statistical Manual of Mental Disorders, 4th ed., Text Revision (DSM-IV-TR) diagnosis of autistic disorder were examined. Mood disorder diagnoses and chief complaints along with family mood disorder history were the primary variables analyzed.
Results: Four subjects (3%) presented with depressed mood. Irritability complaints were frequent (n = 78, 63%). Six subjects (5%) received a mood disorder diagnosis; all with mood disorder, not otherwise specified. No subjects received a depressive disorder diagnosis. Family history of mood disorders was common.
Conclusions: Findings raise questions about the appropriate characterization and potential misdiagnoses of depression in youth with autistic disorder.
C1 [Henry, Charles A.; Nowinski, Lisa; Koesterer, Karmen] Massachusetts Gen Hosp, Dept Psychiat, Boston, MA 02445 USA.
[Ferrone, Christine] Massachusetts Gen Hosp, Dept Pediat, Boston, MA 02445 USA.
[Spybrook, Jessaca] Western Michigan Univ, Dept Evaluat Measurement & Res Dept, Kalamazoo, MI 49008 USA.
[Bauman, Margaret] Boston Univ, Dept Pathol & Lab Med, Boston, MA 02215 USA.
RP Henry, CA (reprint author), Massachusetts Gen Hosp, Dept Psychiat, 1 Brookline Pl 426, Boston, MA 02445 USA.
EM charles_henry@hms.harvard.edu
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NR 32
TC 0
Z9 0
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1044-5463
EI 1557-8992
J9 J CHILD ADOL PSYCHOP
JI J. Child Adolesc. Psychopharmacol.
PD SEP
PY 2014
VL 24
IS 7
BP 403
EP 406
DI 10.1089/cap.2014.0024
PG 4
WC Pediatrics; Pharmacology & Pharmacy; Psychiatry
SC Pediatrics; Pharmacology & Pharmacy; Psychiatry
GA AP6CD
UT WOS:000342164200007
PM 25198799
ER
PT J
AU Sokolov, AA
Erb, M
Tatagiba, MS
Grodd, W
Frackowiak, RSJ
Pavlova, MA
AF Sokolov, A. A.
Erb, M.
Tatagiba, M. S.
Grodd, W.
Frackowiak, R. S. J.
Pavlova, M. A.
TI Cerebello-temporal Connectivity during Visual Perception of Body Motion
SO KLINISCHE NEUROPHYSIOLOGIE
LA German
DT Article
DE cerebellum; biological motion; magnetic resonance imaging (MRI);
connectivity; diffusion tensor imaging (DTI)
ID BIOLOGICAL MOTION; HUMAN BRAIN; AUTISM; RECOGNITION; PROJECTIONS;
HUMANS; SULCUS; ORGANIZATION; INVOLVEMENT; ACTIVATION
AB Visual perception of others' movements is of great value for daily life activities, e. g., for safe car driving or non-verbal communication. While the cortical system for visual perception of body motion has been addressed in a number of studies, the contribution of subcortical structures remains largely unclear. Based on lesion findings in neurosurgical patients indicating eloquence of the left lateral cerebellum, by using functional magnetic resonance imaging (fMRI), we could demonstrate that the left lateral cerebellar lobules Crus I and VIIB are involved in visual processing of body motion. Dynamic causal modelling (DCM) suggests a reciprocal effective connectivity between the left lateral cerebellum and the right superior temporal sulcus (STS), the cornerstone of the network for biological motion perception. Diffusion tensor imaging (DTI) provides the first evidence for a direct bidirectional fibre pathway between the cerebellum and STS. These findings open a new window for future neurological and psychiatric research.
C1 [Sokolov, A. A.; Frackowiak, R. S. J.] CHU Vaudois, Dept Neurosci Clin, CH-1011 Lausanne, Switzerland.
[Erb, M.; Pavlova, M. A.] Univ Klin Tubingen, Abt Biomed Magnetresonanz, Tubingen, Germany.
[Tatagiba, M. S.] Univ Klin Tubingen, Klin Neurochirurg, Tubingen, Germany.
[Grodd, W.] Univ Klinikum Aachen, Klin Psychiat Psychotherapie & Psychosomat, Aachen, Germany.
RP Sokolov, AA (reprint author), CHU Vaudois, Dept Neurosci Clin, Rue Bugnon 46, CH-1011 Lausanne, Switzerland.
EM arseny.sokolov@chuv.ch
RI Frackowiak, Richard/H-4383-2011
OI Frackowiak, Richard/0000-0002-3151-822X
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NR 43
TC 0
Z9 0
PU GEORG THIEME VERLAG KG
PI STUTTGART
PA RUDIGERSTR 14, D-70469 STUTTGART, GERMANY
SN 1434-0275
EI 1439-4081
J9 KLIN NEUROPHYSIOL
JI Klin. Neurophysiol.
PD SEP
PY 2014
VL 45
IS 3
BP 144
EP 150
DI 10.1055/s-0034-1382071
PG 7
WC Clinical Neurology; Neuroimaging; Physiology
SC Neurosciences & Neurology; Physiology
GA AP4OI
UT WOS:000342056600002
ER
PT J
AU Fabri, ZN
Nagy, P
Varga, L
AF Fabri, Zsofia Nora
Nagy Peter
Varga Laszlo
TI Production, general characteristics, chemical composition and health
benefits of camel milk. Literature review. 2. Lactose, minerals and
vitamin contents, health benefits
SO MAGYAR ALLATORVOSOK LAPJA
LA Hungarian
DT Article
AB In the second part of a two-part article, the lactose, major and trace minerals and vitamin Contents of camel's milk are reviewed. A detailed comparison is also made between the physicochemical properties of camel milk and those of cow, sheep, goat and human milk. Finally, the health benefits associated with camel milk consumption are thoroughly discussed. Camel milk is higher in sodium and calcium than milks of other species. Furthermore, camel milk is a good source of certain vitamins. For instance, its vitamin C content can be as much as 10 times higher than that of bovine milk. Fresh and fermented camel milks were reported to provide a wide range of potential health benefits to humans, including antihypertensive, hypocholesterolemic, antiviral and hypoglycemic effects. In addition, fermented camel's milk is used in various Asian and African countries to treat tuberculosis and chronic diseases of the gastrointestinal tract. Some recent findings suggest that camel milk, consumed on a regular basis, is capable of reducing autism symptoms.
C1 [Fabri, Zsofia Nora; Varga Laszlo] Nyugat Magyarorszagi Egyet, Mezogazdasag & Elelmiszer Tudomanyi Kar, Elelmiszer Tudomanyi Int, H-9200 Mosonmagyarovar, Hungary.
[Nagy Peter] Emirates Ind Camel Milk & Prod, Dubai, U Arab Emirates.
RP Fabri, ZN (reprint author), Nyugat Magyarorszagi Egyet, Mezogazdasag & Elelmiszer Tudomanyi Kar, Elelmiszer Tudomanyi Int, Lucsony U 15-17, H-9200 Mosonmagyarovar, Hungary.
EM VargaL@mtk.nyme.hu
NR 0
TC 0
Z9 0
PU MEZOGAZDA KIADO KFT
PI BUDAPEST
PA PO BOX 16, 1631 BUDAPEST, HUNGARY
SN 0025-004X
J9 MAGY ALLATORVOSOK
JI Magy. Allatorv. Lapja
PD SEP
PY 2014
VL 136
IS 9
BP 553
EP 557
PG 5
WC Veterinary Sciences
SC Veterinary Sciences
GA AP4GX
UT WOS:000342036300007
ER
PT J
AU Stocco, A
Baizabal-Carvallo, JF
AF Stocco, Amber
Baizabal-Carvallo, Jose Fidel
TI Deep brain stimulation for severe secondary stereotypies
SO PARKINSONISM & RELATED DISORDERS
LA English
DT Letter
DE Stereotypies; Deep brain stimulation; Autism; Movement disorders
C1 [Stocco, Amber] Texas Childrens Hosp, Baylor Coll Med, Dept Child Neurol, Houston, TX 77030 USA.
[Baizabal-Carvallo, Jose Fidel] Baylor Coll Med, Parkinsons Dis Ctr & Movement Disorders Clin, Dept Neurol, Houston, TX 77030 USA.
RP Baizabal-Carvallo, JF (reprint author), Baylor Coll Med, Parkinsons Dis Ctr & Movement Disorders Clin, Dept Neurol, Smith Tower,Suite 1801,6550 Fannin, Houston, TX 77030 USA.
EM baizabaljf@hotmail.com
CR Baup N, 2008, J NEUROSCI, V28, P8785, DOI 10.1523/JNEUROSCI.2384-08.2008
Edwards MJ, 2012, MOVEMENT DISORD, V27, P179, DOI 10.1002/mds.23994
Houdayer E, 2013, MOV DISORD
Lai MC, 2014, LANCET, V383, P896, DOI 10.1016/S0140-6736(13)61539-1
Miller JM, 2006, J CHILD NEUROL, V21, P119, DOI 10.2310/7010.2006.00025
NR 5
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1353-8020
EI 1873-5126
J9 PARKINSONISM RELAT D
JI Parkinsonism Relat. Disord.
PD SEP
PY 2014
VL 20
IS 9
BP 1035
EP 1036
DI 10.1016/j.parkreldis.2014.06.019
PG 2
WC Clinical Neurology
SC Neurosciences & Neurology
GA AP2KF
UT WOS:000341900400020
PM 25012696
ER
PT J
AU Romanelli, M
Rhodes, A
AF Romanelli, Mark
Rhodes, Arthur
TI Guanfacine-Induced Lichenoid Drug Eruption in a Child with Autism and
Attention Deficit Hyperactivity Disorder
SO PEDIATRIC DERMATOLOGY
LA English
DT Article
AB Lichenoid drug eruptions (LDEs) have a variety of medication causes. We report a case of a 5-year-old boy with autism and attention deficit hyperactivity disorder treated with guanfacine who developed pruritic lesions consistent with LDEs. Rechallenge was not attempted. There are several clinical and histopathologic clues that may distinguish LDEs from lichen planus.
C1 [Romanelli, Mark; Rhodes, Arthur] Rush Univ, Med Ctr, Dept Dermatol, Chicago, IL 60612 USA.
RP Romanelli, M (reprint author), Rush Univ, Med Ctr, Dept Dermatol, 1653 W Congress Pkwy,220 Annex Bldg, Chicago, IL 60612 USA.
EM markgromanelli@gmail.com
CR Basow DS, 2011, PEDIAT NEONATAL LEXI
Black MM, 1986, TXB DERMATOLOGY, P1665
Bolognia JL, 2008, DERMATOLOGY
HALEVY S, 1993, J AM ACAD DERMATOL, V29, P249
VANDENHAUTE V, 1989, DERMATOLOGICA, V179, P10
NR 5
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0736-8046
EI 1525-1470
J9 PEDIATR DERMATOL
JI Pediatr. Dermatol.
PD SEP-OCT
PY 2014
VL 31
IS 5
BP 614
EP 615
DI 10.1111/pde.12197
PG 3
WC Dermatology; Pediatrics
SC Dermatology; Pediatrics
GA AP1FE
UT WOS:000341811700020
PM 23869619
ER
PT J
AU Waltereit, R
Banaschewski, T
Meyer-Lindenberg, A
Poustka, L
AF Waltereit, Robert
Banaschewski, Tobias
Meyer-Lindenberg, Andreas
Poustka, Luise
TI Interaction of neurodevelopmental pathways and synaptic plasticity in
mental retardation, autism spectrum disorder and schizophrenia:
Implications for psychiatry
SO WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY
LA English
DT Review
DE developmental psychopathology; genetics; mental retardation; autism
spectrum disorder; schizophrenia
ID COPY NUMBER VARIATION; TUBEROUS-SCLEROSIS; DEVELOPMENTAL DISORDERS;
NEUREXIN SUPERFAMILY; STRUCTURAL VARIATION; ADULT SCHIZOPHRENIA; DNA
METHYLATION; SPECIAL NEEDS; PROJECT SNAP; RISK-FACTORS
AB Objectives. Schizophrenia (SCZ), autism spectrum disorder (ASD) and mental retardation (MR) are psychiatric disorders with high heritability. They differ in their clinical presentation and in their time course of major symptoms, which predominantly occurs for MR and ASD during childhood and for SCZ during young adult age. Recent findings with focus on the developmental neurobiology of these disorders emphasize shared mechanisms of common origin. These findings propose a continuum of genetic risk factors impacting on synaptic plasticity with MR causing impairments in global cognitive abilities, ASD in social cognition and SCZ in both global and social cognition. Methods. We assess here the historical developments that led to the current disease concepts of the three disorders. We then analyse, based on the functions of genes mutated in two or three of the disorders, selected mechanisms shared in neurodevelopmental pathways and synaptic plasticity. Results. The analysis of the psychopathological constructs supports the existence of three distinct clinical entities but also elaborates important associations. Similarly, there are common mechanisms especially in global and social cognition. Conclusions. We discuss implications from this integrated view on MR, ASD and SCZ for child & adolescent and adult psychiatry in pathophysiology and research perspectives.
C1 [Waltereit, Robert; Meyer-Lindenberg, Andreas] Cent Inst Mental Hlth, Dept Psychiat & Psychotherapy, Mannheim, Germany.
[Waltereit, Robert; Banaschewski, Tobias; Meyer-Lindenberg, Andreas; Poustka, Luise] Heidelberg Univ, Mannheim Med Fac, Mannheim, Germany.
[Banaschewski, Tobias; Poustka, Luise] Cent Inst Mental Hlth, Dept Child & Adolescent Psychiat & Psychotherapy, Mannheim, Germany.
[Waltereit, Robert] Univ Saarland, Med Ctr, Dept Psychiat & Psychotherapy, D-66421 Homburg, Germany.
RP Waltereit, R (reprint author), Univ Saarland, Med Ctr, Dept Psychiat & Psychotherapy, D-66421 Homburg, Germany.
EM robert.waltereit@uks.eu
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NR 89
TC 1
Z9 1
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1562-2975
EI 1814-1412
J9 WORLD J BIOL PSYCHIA
JI World J. Biol. Psychiatry
PD SEP
PY 2014
VL 15
IS 7
BP 507
EP 516
DI 10.3109/15622975.2013.838641
PG 10
WC Psychiatry
SC Psychiatry
GA AP7CQ
UT WOS:000342235800002
PM 24079538
ER
PT J
AU Chudal, R
Gissler, M
Sucksdorff, D
Lehti, V
Suominen, A
Hinkka-Yli-Salomaki, S
Brown, AS
Sourander, A
AF Chudal, Roshan
Gissler, Mika
Sucksdorff, Dan
Lehti, Venla
Suominen, Auli
Hinkka-Yli-Salomaki, Susanna
Brown, Alan S.
Sourander, Andre
TI Parental age and the risk of bipolar disorders
SO BIPOLAR DISORDERS
LA English
DT Article
DE bipolar disorder; epidemiology; parental age; U-shaped
ID ADVANCING PATERNAL AGE; DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS;
POPULATION-BASED COHORT; PSYCHIATRIC-DISORDERS; MATERNAL AGE;
SCHIZOPHRENIA; BIRTH; PSYCHOSIS; EXPLAIN
AB Objectives Studies on the association between parental age and bipolar disorder (BPD) are scarce and with inconsistent findings. The aim of this study was to examine the association of parental age and age difference between parents with risk of BPD in offspring. Methods This nested case-control study identified 1,861 cases of individuals with BPD born in Finland during 1983-1998 and diagnosed by the end of 2008, and 3,643 sex- and date of birth-matched controls from nationwide population-based registers. Conditional logistic regression was used to examine the association adjusting for potential confounding due to age of the other parent, parental psychiatric history, educational level, and place of birth. Results A U-shaped association of unadjusted odds ratios (ORs) for BPD risk was seen in different paternal age categories, with the odds increasing at both ends of the age spectrum. In the adjusted analyses, offspring of fathers aged 50years had a 2.8-fold increased odds [OR=2.84, 95% confidence interval (CI): 1.32-6.12] of BPD as compared to those with fathers aged 30-34years. The odds were increased 1.3-fold (OR=1.35, CI: 1.06-1.72) in fathers aged 20-24years. No significant association was found between maternal age and BPD in the adjusted analyses. Age difference between parents was not associated with BPD. Conclusions The increased risk of BPD in offspring of the youngest and oldest fathers in the study suggests the involvement of different biological and psychosocial factors at the two ends of the paternal age spectrum. These findings may be significant in the context of advancing parental age in recent times.
C1 [Chudal, Roshan; Gissler, Mika; Sucksdorff, Dan; Lehti, Venla; Suominen, Auli; Hinkka-Yli-Salomaki, Susanna; Sourander, Andre] Univ Turku, Dept Child Psychiat, Turku 20014, Finland.
[Gissler, Mika] Nord Sch Publ Hlth, Gothenburg, Sweden.
[Gissler, Mika] Natl Inst Hlth & Welf, Helsinki, Finland.
[Brown, Alan S.] Columbia Univ Coll Phys & Surg, New York State Psychiat Inst, Dept Psychiat, New York, NY 10032 USA.
[Brown, Alan S.] Columbia Univ, Dept Epidemiol, Mailman Sch Publ Hlth, New York, NY USA.
[Sourander, Andre] Turku Univ Hosp, Dept Child Psychiat, FIN-20520 Turku, Finland.
[Sourander, Andre] Univ Tromso, Reg Ctr Child & Youth Mental Hlth & Child Welf, Tromso, Norway.
RP Sourander, A (reprint author), Univ Turku, Fac Med, Inst Clin Med, Res Ctr Child Psychiat, Lemminkaisenkatu 3 Teutori 3rd Floor, Turku 20014, Finland.
EM andsou@utu.fi
RI Chudal, Roshan/C-1067-2015
FU NARSAD Independent Investigator Award, USA (AS) [K02 MH065422-10]
FX The study was supported by grants from the NARSAD Independent
Investigator Award, USA (AS), the Sigrid Juselius Foundation, Finland
(AS), and K02 MH065422-10 (ASB). This study was conducted at the
University of Turku, Finland and we thank the study investigators and
staff at the medical centers involved in this research. Specifically we
would like to thank the members involved in the data collection process,
including: Juha-Pekka Virtanen, Pyry Kantanen, Kristiina Saanakorpi,
Ulla Kulmala, Tanja Sarlin, Jarna Lindroos, and Lauri Sillanmaki from
the Research Centre for Child Psychiatry, University of Turku.
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NR 61
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1398-5647
EI 1399-5618
J9 BIPOLAR DISORD
JI Bipolar Disord.
PD SEP
PY 2014
VL 16
IS 6
BP 624
EP 632
DI 10.1111/bdi.12182
PG 9
WC Clinical Neurology; Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AO8GU
UT WOS:000341592700008
PM 24499422
ER
PT J
AU Sanchez, RP
Bartel, CM
Brown, E
DeRosier, M
AF Sanchez, Rebecca Polley
Bartel, Chelsea M.
Brown, Emily
DeRosier, Melissa
TI The acceptability and efficacy of an intelligent social tutoring system
SO COMPUTERS & EDUCATION
LA English
DT Article
DE Intelligent tutoring system; Educational computer game; eLeaming; Social
skills training; Social skills intervention
ID HIGH-FUNCTIONING AUTISM; ANTISOCIAL-BEHAVIOR; PEER REJECTION; CHILDREN;
SKILLS; SCHOOL; INTERVENTIONS; ADJUSTMENT; METAANALYSIS; PREVENTION
AB This study tested the acceptability and efficacy of an innovative intelligent tutoring system (ITS), Adventures Aboard the S.S. GRIN, that translates the evidence-based in-person Social Skills Group Intervention (SSGRIN) into an interactive game-based social tutorial. This randomized controlled pilot trial tested the first half of the social tutorial software for children with social skills challenges. Participating children in grades 3-5 were randomly assigned to immediate treatment (n = 19) or wait-list control (n = 17). User ratings indicated the software was easy to use and well-liked for this audience. The program was also associated with observable changes in social skills and behavior; children who interacted with Adventures Aboard the S.S. GRIN exhibited lower psychosocial distress and higher behavioral and emotional strength at post-test compared to children who did not. This pilot study offers important insights about the feasibility and potential effectiveness of online social skills training and lays the groundwork for future full-scale effectiveness testing. The advantages of using this state-of-the-art approach and its implications for improving social, emotional, and academic outcomes are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Sanchez, Rebecca Polley; Bartel, Chelsea M.; Brown, Emily; DeRosier, Melissa] 3C Inst, Cary, NC 27513 USA.
RP Sanchez, RP (reprint author), 3C Inst, 1901 North Harrison Ave,Suite 200, Cary, NC 27513 USA.
EM sanchez@3cisd.com; bartel@3cisd.com; brown@3cisd.com; derosier@3cisd.com
FU Institute for Education Science [R305A110583]
FX This research was supported by a grant from the Institute for Education
Science (Grant #R305A110583) to the Center for Research in Emotional and
Social Health (CRESH). We gratefully acknowledge their financial
support. We also thank our development team for their contributions to
the program, particularly Chris Hehman, Jeremiah Weatherley, Matt Habel,
Chrystin Garland, Jon Fabris, Charles Bevan, Marcelo Nader, Kim Smith,
and Wes Sommer.
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NR 79
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0360-1315
EI 1873-782X
J9 COMPUT EDUC
JI Comput. Educ.
PD SEP
PY 2014
VL 78
BP 321
EP 332
DI 10.1016/j.compedu.2014.06.013
PG 12
WC Computer Science, Interdisciplinary Applications; Education &
Educational Research
SC Computer Science; Education & Educational Research
GA AO9KR
UT WOS:000341675100029
ER
PT J
AU O'Nions, E
Sebastian, CL
McCrory, E
Chantiluke, K
Happe, F
Viding, E
AF O'Nions, Elizabeth
Sebastian, Catherine L.
McCrory, Eamon
Chantiluke, Kaylita
Happe, Francesca
Viding, Essi
TI Neural bases of Theory of Mind in children with autism spectrum
disorders and children with conduct problems and callous-unemotional
traits
SO DEVELOPMENTAL SCIENCE
LA English
DT Article
ID ASPERGER-SYNDROME; DIAGNOSTIC INTERVIEW; AMYGDALA RESPONSE; NONVERBAL
TASK; ADOLESCENTS; BRAIN; ATTRIBUTION; EMPATHY; SAMPLE; COMPREHENSION
AB Individuals with autism spectrum disorders (ASD) have difficulty understanding other minds (Theory of Mind; ToM), with atypical processing evident at both behavioural and neural levels. Individuals with conduct problems and high levels of callous-unemotional (CU) traits (CP/HCU) exhibit reduced responsiveness to others' emotions and difficulties interacting with others, but nonetheless perform normally in experimental tests of ToM. The present study aimed to examine the neural underpinnings of ToM in children (aged 10-16) with ASD (N=16), CP/HCU (N=16) and typically developing (TD) controls (N=16) using a non-verbal cartoon vignette task. Whilst individuals with ASD were predicted to show reduced fMRI responses across regions involved in ToM processing, CP/HCU individuals were predicted to show no differences compared with TD controls. The analyses indicated that neural responses did not differ between TD and CP/HCU groups during ToM. TD and CP/HCU children exhibited significantly greater medial prefrontal cortex responses during ToM than did the ASD group. Within the ASD group, responses in medial prefrontal cortex and right temporoparietal junction (TPJ) correlated with symptom severity as measured by the Autism Diagnostic Observation Schedule (ADOS). Findings suggest that although both ASD and CP/HCU are characterized by social difficulties, only children with ASD display atypical neural processing associated with ToM.
C1 [O'Nions, Elizabeth; Sebastian, Catherine L.; McCrory, Eamon; Chantiluke, Kaylita; Happe, Francesca; Viding, Essi] UCL, Dev Risk & Resilience Unit, Clin Educ & Hlth Psychol Res Dept, London WC1H 0AP, England.
[Sebastian, Catherine L.] Univ London, Dept Psychol, London WC1E 7HU, England.
RP O'Nions, E (reprint author), UCL, Dev Risk & Resilience Unit, Clin Educ & Hlth Psychol Res Dept, 26 Bedford Way, London WC1H 0AP, England.
EM e.o'nions@ucl.ac.uk; e.viding@ucl.ac.uk
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NR 56
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1363-755X
EI 1467-7687
J9 DEVELOPMENTAL SCI
JI Dev. Sci.
PD SEP
PY 2014
VL 17
IS 5
BP 786
EP 796
DI 10.1111/desc.12167
PG 11
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA AO7DG
UT WOS:000341511600013
PM 24636205
ER
PT J
AU Strunk, JA
Pickler, R
McCain, NL
Ameringer, S
Myers, BJ
AF Strunk, Julie A.
Pickler, Rita
McCain, Nancy L.
Ameringer, Suzanne
Myers, Barbara J.
TI Managing the Health Care Needs of Adolescents With Autism Spectrum
Disorder: The Parents' Experience
SO FAMILIES SYSTEMS & HEALTH
LA English
DT Article
DE adolescents' health care; autism spectrum disorder; health care needs;
parents; phenomenology
ID MEDICAL HOME; UNITED-STATES; CHILDREN; STRESS; MOTHERS; FAMILY;
PARTNERSHIPS; BEHAVIORS; SERVICES; FATHERS
AB Parents of adolescents with autism spectrum disorder (ASD) experience the challenges of navigating the health care system, locating information about ASD, lacking an understanding of prescribed medications, and experiencing minimal social support from health care providers. The purpose of this phenomenological study was to describe the experiences of parents who manage the health needs of an adolescent with ASD. Qualitative interviews were conducted at a university setting with 12 parents of 10 adolescents with ASD residing in Central Virginia. Data were analyzed using Moustakas' method in which the phenomenologist asks the following questions: What are the individual's experiences and in what context did they experience them? This study maximized credibility using 3 strategies: prolonged engagement, peer debriefing, and member checking. "Parents needing assistance" emerged as the essence of the parents' experiences. Four themes representing the essential challenging elements of the parents' experiences included concern with medications, frustrations with health care services, recognizing secondary health issues, and the need for resources and services. Findings of the current study revealed key factors to be considered in the development and delivery of health care for adolescents with ASD. These include creating and planning interventions for parents, sharing information about resources and services, and collaborating with others in the health care field. Additional research, both qualitative and quantitative, is needed to understand how parents and adolescents with ASD experience this transitional period.
C1 [Strunk, Julie A.] James Madison Univ, Dept Nursing, Harrisonburg, VA 22807 USA.
[Pickler, Rita] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA.
[McCain, Nancy L.; Ameringer, Suzanne] Virginia Commonwealth Univ, Sch Nursing, Richmond, VA 23284 USA.
[Myers, Barbara J.] Virginia Commonwealth Univ, Sch Psychol, Richmond, VA 23284 USA.
RP Strunk, JA (reprint author), James Madison Univ, Dept Nursing, MSC 4305,820 Madison Dr, Harrisonburg, VA 22807 USA.
EM strunkja@jmu.edu
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NR 52
TC 0
Z9 0
PU EDUCATIONAL PUBLISHING FOUNDATION-AMERICAN PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST, NE, WASHINGTON, DC 20002-4242 USA
SN 1091-7527
EI 1939-0602
J9 FAM SYST HEALTH
JI Fam. Syst. Health
PD SEP
PY 2014
VL 32
IS 3
BP 328
EP 337
DI 10.1037/a0037180
PG 10
WC Health Care Sciences & Services; Family Studies; Public, Environmental &
Occupational Health
SC Health Care Sciences & Services; Family Studies; Public, Environmental &
Occupational Health
GA AP1QF
UT WOS:000341845300008
PM 24911770
ER
PT J
AU Henderson, LB
Applegate, CD
Wohler, E
Sheridan, MB
Hoover-Fong, J
Batista, DAS
AF Henderson, Lindsay B.
Applegate, Carolyn D.
Wohler, Elizabeth
Sheridan, Molly B.
Hoover-Fong, Julie
Batista, Denise A. S.
TI The impact of chromosomal microarray on clinical management: a
retrospective analysis
SO GENETICS IN MEDICINE
LA English
DT Article
DE autism; clinical management; clinical utility; chromosomal microarray;
intellectual disability
ID COPY-NUMBER VARIATIONS; DEVELOPMENTAL-DISABILITIES; HUMAN GENOME; DELAY;
INDIVIDUALS; CYSTINOSIS; MUTATIONS; ANOMALIES; VARIANTS
AB Purpose: Chromosomal microarray has been widely adopted as the first-tier clinical test for individuals with multiple congenital anomalies, developmental delay, intellectual disability, and autism spectrum disorders. Although chromosomal microarray has been extensively shown to provide a higher diagnostic yield than conventional cytogenetic methods, some health insurers refuse to provide coverage for this test, claiming that it is experimental and does not affect patients' clinical management.
Methods: We retrospectively reviewed the electronic medical records of all patients who had abnormal chromosomal microarray findings reported by our laboratory over a 3-year period and quantified the management recommendations made in response to these results.
Results: Abnormal chromosomal microarray findings were reported for 12.7% of patients (227/1,780). For patients with clinical follow-up notes available, these results had management implications for 54.5% of patients in the entire abnormal cohort (102/187) and for 42.1% of patients referred for isolated neurodevelopmental disorders (16/38). Recommendations included pharmacological treatment, cancer-related screening or exclusion of screening, contraindications, and referrals for further evaluation.
Conclusion: These results empirically demonstrate the clinical utility of chromosomal microarray by providing evidence that management was directly affected for the majority of patients in our cohort with abnormal chromosomal microarray findings.
C1 [Henderson, Lindsay B.; Applegate, Carolyn D.; Sheridan, Molly B.; Hoover-Fong, Julie; Batista, Denise A. S.] Johns Hopkins Med Inst, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA.
[Wohler, Elizabeth; Batista, Denise A. S.] Kennedy Krieger Inst, Cytogenet Lab, Baltimore, MD USA.
[Batista, Denise A. S.] Johns Hopkins Univ, Dept Pathol, Baltimore, MD USA.
RP Batista, DAS (reprint author), Johns Hopkins Med Inst, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA.
EM dbatist1@jhmi.edu
FU National Institutes of Health [5P30 HD024061-23]
FX The authors thank the staff at the Cytogenetics and Microarray
Laboratory at the Kennedy Krieger Institute. This work was partially
supported by National Institutes of Health grant 5P30 HD024061-23 to the
Intellectual and Developmental Disabilities Research Center.
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NR 33
TC 1
Z9 1
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1098-3600
EI 1530-0366
J9 GENET MED
JI Genet. Med.
PD SEP
PY 2014
VL 16
IS 9
BP 657
EP 664
DI 10.1038/gim.2014.18
PG 8
WC Genetics & Heredity
SC Genetics & Heredity
GA AP1LG
UT WOS:000341830800002
PM 24625444
ER
PT J
AU Bonarrigo, FA
Russo, S
Vizziello, P
Menni, F
Cogliati, F
Giorgini, V
Monti, F
Milani, D
AF Bonarrigo, Francesca Andrea
Russo, Silvia
Vizziello, Paola
Menni, Francesca
Cogliati, Francesca
Giorgini, Valentina
Monti, Federico
Milani, Donatella
TI Think About It: FMR1 Gene Mosaicism
SO JOURNAL OF CHILD NEUROLOGY
LA English
DT Article
DE fragile X syndrome; intellectual disability; mosaicism
ID FRAGILE-X-SYNDROME; CGG REPEAT; FULL MUTATION; NORMAL SIZE; DIAGNOSIS;
DELETION; REGION; ALLELE; INSTABILITY; HOTSPOT
AB Fragile X syndrome (FXS) is one of the most frequent causes of mental retardation, intellectual disability, and autism. Most cases are the result of an expansion of the CGG trinucleotide repeat in the 5 untranslated region of the FMR1 gene and the subsequent functional loss of the related protein. We describe the case of a 4-year-old boy who clinically presents mild psychomotor delay without any major clinical dysmorphisms. Molecular analysis of the FMR1 gene showed mosaicism in terms of size and methylation, with one normal and 1 fully mutated allele, which is very rare in this syndrome. Physicians should therefore consider a diagnosis of FXS even if the patient's phenotype is mild. Although rare, diagnosing this condition has important consequences for the patient's rehabilitation and the family planning of parents and relatives.
C1 [Bonarrigo, Francesca Andrea; Menni, Francesca; Milani, Donatella] Univ Milan, Dept Pathophysiol & Transplantat, Pediat Clin 1, Fdn IRCCS Ca Granda Osped Maggiore Policlin, I-20122 Milan, Italy.
[Russo, Silvia; Cogliati, Francesca; Giorgini, Valentina] Ist Auxol Italiano, Cytogenet & Mol Genet Lab, Milan, Italy.
[Vizziello, Paola; Monti, Federico] Fdn IRCCS Ca Granda Osped Maggiore Policlin, Child & Adolescent Neuropsychiat UONPIA, Milan, Italy.
RP Milani, D (reprint author), Univ Milan, Dept Pathophysiol & Transplantat, Pediat Clin 1, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Via Commenda 9, I-20122 Milan, Italy.
EM donatella.milani@policlinico.mi.it
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NR 27
TC 0
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0883-0738
EI 1708-8283
J9 J CHILD NEUROL
JI J. Child Neurol.
PD SEP
PY 2014
VL 29
IS 9
SI SI
BP NP74
EP NP77
DI 10.1177/0883073813503187
PG 4
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AP1FK
UT WOS:000341812400007
PM 24065579
ER
PT J
AU Nakajima, Y
Meijer, J
Dobritzsch, D
Ito, T
Meinsma, R
Abeling, NGGM
Roelofsen, J
Zoetekouw, L
Watanabe, Y
Tashiro, K
Lee, T
Takeshima, Y
Mitsubuchi, H
Yoneyama, A
Ohta, K
Eto, K
Saito, K
Kuhara, T
van Kuilenburg, ABP
AF Nakajima, Yoko
Meijer, Judith
Dobritzsch, Doreen
Ito, Tetsuya
Meinsma, Rutger
Abeling, Nico G. G. M.
Roelofsen, Jeroen
Zoetekouw, Lida
Watanabe, Yoriko
Tashiro, Kyoko
Lee, Tomoko
Takeshima, Yasuhiro
Mitsubuchi, Hiroshi
Yoneyama, Akira
Ohta, Kazuhide
Eto, Kaoru
Saito, Kayoko
Kuhara, Tomiko
van Kuilenburg, Andre B. P.
TI Clinical, biochemical and molecular analysis of 13 Japanese patients
with beta-ureidopropionase deficiency demonstrates high prevalence of
the c.977G > A (p.R326Q) mutation
SO JOURNAL OF INHERITED METABOLIC DISEASE
LA English
DT Article
ID RHODOCOCCUS-RHODOCHROUS J1; TANDEM MASS-SPECTROMETRY; DIHYDROPYRIMIDINE
DEHYDROGENASE; AMINOISOBUTYRIC ACID; ALANINE SYNTHASE; TOXICITY; GENE;
DEGRADATION; NITRILASE; URINE
AB beta-ureidopropionase (beta UP) deficiency is an autosomal recessive disease characterized by N-carbamyl-beta-amino aciduria. To date, only 16 genetically confirmed patients with beta UP deficiency have been reported. Here, we report on the clinical, biochemical and molecular findings of 13 Japanese beta UP deficient patients. In this group of patients, three novel missense mutations (p.G31S, p.E271K, and p.I286T) and a recently described mutation (p.R326Q) were identified. The p.R326Q mutation was detected in all 13 patients with eight patients being homozygous for this mutation. Screening for the p.R326Q mutation in 110 Japanese individuals showed an allele frequency of 0.9 %. Transient expression of mutant beta UP enzymes in HEK293 cells showed that the p.E271K and p.R326Q mutations cause profound decreases in activity (a parts per thousand currency sign 1.3 %). Conversely, beta UP enzymes containing the p.G31S and p.I286T mutations possess residual activities of 50 and 70 %, respectively, suggesting we cannot exclude the presence of additional mutations in the non-coding region of the UPB1 gene. Analysis of a human beta UP homology model revealed that the effects of the mutations (p.G31S, p.E271K, and p.R326Q) on enzyme activity are most likely linked to improper oligomer assembly. Highly variable phenotypes ranging from neurological involvement (including convulsions and autism) to asymptomatic, were observed in diagnosed patients. High prevalence of p.R326Q in the normal Japanese population indicates that beta UP deficiency is not as rare as generally considered and screening for beta UP deficiency should be included in diagnosis of patients with unexplained neurological abnormalities.
C1 [Nakajima, Yoko; Meijer, Judith; Meinsma, Rutger; Abeling, Nico G. G. M.; Roelofsen, Jeroen; Zoetekouw, Lida; van Kuilenburg, Andre B. P.] Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, Dept Clin Chem, NL-1105 AZ Amsterdam, Netherlands.
[Nakajima, Yoko; Ito, Tetsuya] Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, Japan.
[Dobritzsch, Doreen] Uppsala Univ, Dept Chem, BMC, S-75123 Uppsala, Sweden.
[Watanabe, Yoriko] Kurume Univ, Sch Med, Dept Pediat & Child Hlth, Kurume, Fukuoka 8300011, Japan.
[Watanabe, Yoriko; Tashiro, Kyoko] Kurume Univ, Sch Med, Res Inst Med Mass Spectrometry, Kurume, Fukuoka 8300011, Japan.
[Lee, Tomoko; Takeshima, Yasuhiro] Kobe Univ, Dept Pediat, Grad Sch Med, Kobe, Hyogo 6500017, Japan.
[Mitsubuchi, Hiroshi] Kumamoto Univ Hosp, Dept Neonatol, Kumamoto 8608556, Japan.
[Yoneyama, Akira] Natl Rehabil Ctr Disabled Children, Tokyo 1730037, Japan.
[Ohta, Kazuhide] Natl Hosp Org, Dept Pediat, Kanazawa Med Ctr, Kanazawa, Ishikawa 9208650, Japan.
[Eto, Kaoru] Tokyo Womens Med Univ, Dept Pediat, Tokyo 1628111, Japan.
[Saito, Kayoko] Tokyo Womens Med Univ, Inst Med Genet, Tokyo 1620054, Japan.
[Kuhara, Tomiko] Japan Clin Metabol Inst, Kahoku, Ishikawa 9291174, Japan.
RP Nakajima, Y (reprint author), Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, Japan.
EM ncu.metabolism@gmail.com
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NR 34
TC 3
Z9 3
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0141-8955
EI 1573-2665
J9 J INHERIT METAB DIS
JI J. Inherit. Metab. Dis.
PD SEP
PY 2014
VL 37
IS 5
BP 801
EP 812
DI 10.1007/s10545-014-9682-y
PG 12
WC Endocrinology & Metabolism; Genetics & Heredity
SC Endocrinology & Metabolism; Genetics & Heredity
GA AP1XE
UT WOS:000341864800013
PM 24526388
ER
PT J
AU Nicolaidis, C
Kripke, CC
Raymaker, D
AF Nicolaidis, Christina
Kripke, Clarissa Calliope
Raymaker, Dora
TI Primary Care for Adults on the Autism Spectrum
SO MEDICAL CLINICS OF NORTH AMERICA
LA English
DT Article
DE Autism spectrum disorders; Primary care; Adults; Developmental
disabilities
ID INTELLECTUAL DISABILITIES; SLEEP PROBLEMS; ASPERGER-SYNDROME;
YOUNG-ADULTS; DISORDERS; PEOPLE; HEALTH; INDIVIDUALS; CHILDREN;
COMMUNITY
AB Autism spectrum disorder (ASD) is defined by differences in social communication and restricted, repetitive patterns of behavior, interests, or activities. Skills and challenges can change depending on environmental stimuli, supports, and stressors. Quality of life can be improved by the use of accommodations, assistive technologies, therapies to improve adaptive function or communication, caregiver training, acceptance, access, and inclusion. This article focuses on the identification of ASD in adults, referrals for services, the recognition of associated conditions, strategies and accommodations to facilitate effective primary care services, and ethical issues related to caring for autistic adults.
C1 [Nicolaidis, Christina; Raymaker, Dora] Portland State Univ, Reg Res Inst, Sch Social Work, Portland, OR 97201 USA.
[Nicolaidis, Christina] Oregon Hlth & Sci Univ, Dept Med, Portland, OR 97239 USA.
[Nicolaidis, Christina] Oregon Hlth & Sci Univ, Dept Publ Hlth & Prevent Med, Portland, OR 97239 USA.
[Nicolaidis, Christina] Acad Autism Spectrum Partnership Res & Educ, Portland, OR 97239 USA.
[Kripke, Clarissa Calliope] Univ Calif San Francisco, San Francisco, CA 94143 USA.
[Nicolaidis, Christina; Raymaker, Dora] Acad Autism Spectrum Partnership Res & Educ, Portland, OR 97201 USA.
RP Nicolaidis, C (reprint author), Portland State Univ, Reg Res Inst, Sch Social Work, 1600 SW 4th Ave,Suite 900, Portland, OR 97201 USA.
EM nicol22@pdx.edu
FU National Institute of Mental Health [R34MH092503]
FX Many of the recommendations in this article arise from the AASPIRE
Healthcare Toolkit Project. Funding for the project was provided by the
National Institute of Mental Health (R34MH092503). We would like to
thank the many AASPIRE team members and study participants who have
contributed to the project.
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NR 62
TC 1
Z9 1
PU W B SAUNDERS CO-ELSEVIER INC
PI PHILADELPHIA
PA 1600 JOHN F KENNEDY BOULEVARD, STE 1800, PHILADELPHIA, PA 19103-2899 USA
SN 0025-7125
EI 1557-9859
J9 MED CLIN N AM
JI Med. Clin. N. Am.
PD SEP
PY 2014
VL 98
IS 5
BP 1169
EP +
DI 10.1016/j.mcna.2014.06.011
PG 25
WC Medicine, General & Internal
SC General & Internal Medicine
GA AO8OO
UT WOS:000341614300015
PM 25134878
ER
PT J
AU Samocha, KE
Robinson, EB
Sanders, SJ
Stevens, C
Sabo, A
McGrath, LM
Kosmicki, JA
Rehnstrom, K
Mallick, S
Kirby, A
Wall, DP
MacArthur, DG
Gabriel, SB
DePristo, M
Purcell, SM
Palotie, A
Boerwinkle, E
Buxbaum, JD
Cook, EH
Gibbs, RA
Schellenberg, GD
Sutcliffe, JS
Devlin, B
Roeder, K
Neale, BM
Daly, MJ
AF Samocha, Kaitlin E.
Robinson, Elise B.
Sanders, Stephan J.
Stevens, Christine
Sabo, Aniko
McGrath, Lauren M.
Kosmicki, Jack A.
Rehnstrom, Karola
Mallick, Swapan
Kirby, Andrew
Wall, Dennis P.
MacArthur, Daniel G.
Gabriel, Stacey B.
DePristo, Mark
Purcell, Shaun M.
Palotie, Aarno
Boerwinkle, Eric
Buxbaum, Joseph D.
Cook, Edwin H., Jr.
Gibbs, Richard A.
Schellenberg, Gerard D.
Sutcliffe, James S.
Devlin, Bernie
Roeder, Kathryn
Neale, Benjamin M.
Daly, Mark J.
TI A framework for the interpretation of de novo mutation in human disease
SO NATURE GENETICS
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; DNA-SEQUENCING DATA; INTELLECTUAL DISABILITY;
GENOME; PATTERNS; GENES; RATES
AB Spontaneously arising (de novo) mutations have an important role in medical genetics. For diseases with extensive locus heterogeneity, such as autism spectrum disorders (ASDs), the signal from de novo mutations is distributed across many genes, making it difficult to distinguish disease-relevant mutations from background variation. Here we provide a statistical framework for the analysis of excesses in de novo mutation per gene and gene set by calibrating a model of de novo mutation. We applied this framework to de novo mutations collected from 1,078 ASD family trios, and, whereas we affirmed a significant role for loss-of-function mutations, we found no excess of de novo loss-of-function mutations in cases with IQ above 100, suggesting that the role of de novo mutations in ASDs might reside in fundamental neurodevelopmental processes. We also used our model to identify similar to 1,000 genes that are significantly lacking in functional coding variation in non-ASD samples and are enriched for de novo loss-of-function mutations identified in ASD cases.
C1 [Samocha, Kaitlin E.; Robinson, Elise B.; Kosmicki, Jack A.; Kirby, Andrew; MacArthur, Daniel G.; Purcell, Shaun M.; Neale, Benjamin M.; Daly, Mark J.] Massachusetts Gen Hosp, Dept Med, Analyt & Translat Genet Unit, Boston, MA 02114 USA.
[Samocha, Kaitlin E.; Robinson, Elise B.; Kosmicki, Jack A.; Kirby, Andrew; MacArthur, Daniel G.; Purcell, Shaun M.; Neale, Benjamin M.; Daly, Mark J.] Harvard Univ, Sch Med, Boston, MA 02114 USA.
[Samocha, Kaitlin E.; Robinson, Elise B.; Stevens, Christine; Kirby, Andrew; MacArthur, Daniel G.; Gabriel, Stacey B.; Purcell, Shaun M.; Neale, Benjamin M.; Daly, Mark J.] Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA.
[Samocha, Kaitlin E.; Robinson, Elise B.; Stevens, Christine; Neale, Benjamin M.; Daly, Mark J.] Broad Inst Harvard & MIT, Stanley Ctr Psychiat Res, Cambridge, MA USA.
[Samocha, Kaitlin E.] Harvard Univ, Sch Med, Program Genet & Gen Biol & Biomed Sci, Boston, MA USA.
[Sanders, Stephan J.] Yale Univ, Sch Med, Dept Psychiat, New Haven, CT USA.
[Sanders, Stephan J.] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA.
[Sabo, Aniko; Boerwinkle, Eric; Gibbs, Richard A.] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA.
[McGrath, Lauren M.; Purcell, Shaun M.; Palotie, Aarno] Massachusetts Gen Hosp, Dept Psychiat, Psychiatr & Neurodev Genet Unit, Boston, MA 02114 USA.
[McGrath, Lauren M.; Purcell, Shaun M.; Palotie, Aarno] Harvard Univ, Sch Med, Boston, MA USA.
[Kosmicki, Jack A.; Wall, Dennis P.] Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA USA.
[Kosmicki, Jack A.; Wall, Dennis P.] Beth Israel Deaconess Med Ctr, Dept Pathol, Boston, MA 02215 USA.
[Rehnstrom, Karola; Palotie, Aarno] Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland.
[Rehnstrom, Karola; Palotie, Aarno] Wellcome Trust Sanger Inst, Wellcome Trust Genome Campus, Cambridge, England.
[Mallick, Swapan] Harvard Univ, Sch Med, Dept Genet, Boston, MA USA.
[DePristo, Mark] Synapdx, Lexington, MA USA.
[Purcell, Shaun M.; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA.
[Purcell, Shaun M.; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY 10029 USA.
[Purcell, Shaun M.; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA.
[Boerwinkle, Eric] Univ Texas Hlth Sci Ctr Houston, Ctr Human Genet, Houston, TX 77030 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY 10029 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA.
[Cook, Edwin H., Jr.] Univ Illinois, Dept Psychiat, Chicago, IL 60612 USA.
[Schellenberg, Gerard D.] Univ Penn, Perelman Sch Med, Pathol & Lab Med, Philadelphia, PA USA.
[Sutcliffe, James S.] Vanderbilt Univ, Ctr Mol Neurosci, Nashville, TN 37235 USA.
[Devlin, Bernie] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA USA.
[Roeder, Kathryn] Carnegie Mellon Univ, Dept Stat, Pittsburgh, PA 15213 USA.
[Roeder, Kathryn] Carnegie Mellon Univ, Lane Ctr Computat Biol, Pittsburgh, PA 15213 USA.
RP Daly, MJ (reprint author), Massachusetts Gen Hosp, Dept Med, Analyt & Translat Genet Unit, Boston, MA 02114 USA.
EM mjdaly@atgu.mgh.harvard.edu
RI Sutcliffe, James/C-1348-2012
OI Sutcliffe, James/0000-0001-5200-6007
FU Autism Genetic Resource Exchange (AGRE) Consortium, a program of Autism
Speaks [1U24MH081810]; Autism Speaks; Simons Foundation; Autism
Consortium; US National Institutes of Health (NIH) [R01MH089208,
R01MH089025, R01MH089004, R01MH089175, R01MH089482, P50HD055751,
R01MH057881, R01MH061009]; Lung GO Sequencing Project [HL-102923];
Women's Health Initiative (WHI) Sequencing Project [HL-102924]; Broad GO
Sequencing Project [HL-102925]; Seattle GO Sequencing Project
[HL-102926]; Heart GO Sequencing Project [HL-103010]; [U54HG003273];
[U54HG003067]
FX All data from published studies are available in the respective
publications. All newly generated data and computational tools used in
this paper will be available online as downloadable material. We have
also constructed a website to query genes that provides information on
constraint and the de novo mutations found in the specified gene across
published studies of de novo mutation. We would like to thank E. Daly
and M. Chess for their contributions to data analysis and the
construction of the website, respectively. We acknowledge the following
resources and families who contributed to them: the National Institute
of Mental Health (NIMH) repository (U24MH068457); the Autism Genetic
Resource Exchange (AGRE) Consortium, a program of Autism Speaks
(1U24MH081810 to C.M. Lajonchere); The Autism Simplex Collection (TASC)
(grant from Autism Speaks); the Simons Foundation Autism Research
Initiative (SFARI) Simplex Collection (grant from the Simons
Foundation); and The Autism Consortium (grant from the Autism
Consortium). This work was directly supported by US National Institutes
of Health (NIH) grants R01MH089208 (M.J.D.), R01MH089025 (J.D.B.),
R01MH089004 (G.D.S.), R01MH089175 (R.A.G.) and R01MH089482 (J.S.S.) and
was supported in part by US NIH grants P50HD055751 (E.H.C.), R01MH057881
(B.D.) and R01MH061009 (J.S.S.). We acknowledge partial support from
grants U54HG003273 (R.A.G.) and U54HG003067 (E. Lander). We thank T.
Lehner (NIMH), A. Felsenfeld (National Human Genome Research Institute)
and P. Bender (NIMH) for their support and contribution to the project.
E.B., J.D.B., B.D., M.J.D., R.A.G., K. Roeder, A.S., G.D.S. and J.S.S.
are lead investigators in the ARRA Autism Sequencing Collaboration
(AASC). We would also like to thank the NHLBI GO Exome Sequencing
Project (ESP) and its ongoing studies that produced and provided exome
variant calls on the web: the Lung GO Sequencing Project (HL-102923),
the Women's Health Initiative (WHI) Sequencing Project (HL-102924), the
Broad GO Sequencing Project (HL-102925), the Seattle GO Sequencing
Project (HL-102926) and the Heart GO Sequencing Project (HL-103010).
CR Allen AS, 2013, NATURE, V501, P217, DOI 10.1038/nature12439
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NR 25
TC 15
Z9 15
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1061-4036
EI 1546-1718
J9 NAT GENET
JI Nature Genet.
PD SEP
PY 2014
VL 46
IS 9
BP 944
EP +
DI 10.1038/ng.3050
PG 8
WC Genetics & Heredity
SC Genetics & Heredity
GA AO8CE
UT WOS:000341579400007
PM 25086666
ER
PT J
AU Lopez-Pison, J
Garcia-Jimenez, MC
Monge-Gatindo, L
Lafuente-Hidalgo, M
Perez-Delgado, R
Garcia-Oguiza, A
Pena-Segura, JL
AF Lopez-Pison, J.
Garcia-Jimenez, M. C.
Monge-Gatindo, L.
Lafuente-Hidalgo, M.
Perez-Delgado, R.
Garcia-Oguiza, A.
Pena-Segura, J. L.
TI Our experience with the aetiological diagnosis of global developmental
delay and intellectual disability: 2006-2010
SO NEUROLOGIA
LA Spanish
DT Article
DE Global developmental delay; Intellectual disability; Microarray
comparative genomic hybridisation
ID QUALITY-STANDARDS-SUBCOMMITTEE; CHILD-NEUROLOGY-SOCIETY;
MENTAL-RETARDATION; NEUROPAEDIATRIC ATTENTION; GENETIC EVALUATION;
PRACTICE-COMMITTEE; AMERICAN-ACADEMY; DEMAND
AB Introduction: Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed.
Material and method: We review our experience with determining aetiological diagnoses for children with GDD/ID who were monitored by the paediatric neurology unit over the 5-year period between 2006 and 2010.
Results: During the study period, 995 children with GDD/ID were monitored. An aetiological diagnosis was established for 309 patients (31%), but not in 686 (69%), despite completing numerous tests. A genetic cause was identified in 142 cases (46% of the total aetiologies established), broken down as 118 cases of genetic encephalopathy and 24 of metabolic hereditary diseases. Our data seem to indicate that diagnosis is easier when GDD/ID is associated with cerebral palsy, epilepsy, infantile spasms/West syndrome, or visual deficit, but more difficult in cases of autism spectrum disorders. Genetic studies provide an increasing number of aetiological diagnoses, and they are also becoming the first step in diagnostic studies. Array CGH (microarray-based comparative genomic hybridisation) is the genetic test with the highest diagnostic yield in children with unexplained GDD/ID.
Discussion: The cost-effectiveness of complementary studies seems to be low if there are no clinically suspected entities. However, even in the absence of treatment, aetiological diagnosis is always important in order to provide genetic counselling and possible prenatal diagnosis, resolve family (and doctors') queries, and halt further diagnostic studies. (C) 2013 Sociedad Espanola de Neurologia. Published by Elsevier Espana, S.L.U. All rights reserved.
C1 [Lopez-Pison, J.; Monge-Gatindo, L.; Lafuente-Hidalgo, M.; Perez-Delgado, R.; Garcia-Oguiza, A.; Pena-Segura, J. L.] Hosp Univ Miguel Servet, Inst Aragones Ciencias Salud, Unidad Neuropediat, Zaragoza, Spain.
[Garcia-Jimenez, M. C.] Hosp Univ Miguel Servet, Inst Aragones Ciencias Salud, Unidad Enfermedades Metab, Zaragoza, Spain.
RP Lopez-Pison, J (reprint author), Hosp Univ Miguel Servet, Inst Aragones Ciencias Salud, Unidad Neuropediat, Zaragoza, Spain.
EM jlopezpi@salud.aragon.es
CR [Anonymous], COM20080726
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NR 17
TC 0
Z9 0
PU ELSEVIER DOYMA SL
PI BARCELONA
PA TRAVESERA DE GARCIA, 17-21, BARCELONA, 08021, SPAIN
SN 0213-4853
EI 1578-1968
J9 NEUROLOGIA
JI Neurologia
PD SEP
PY 2014
VL 29
IS 7
BP 402
EP 407
DI 10.1016/j.nrl.2013.10.006
PG 6
WC Clinical Neurology
SC Neurosciences & Neurology
GA AP1CO
UT WOS:000341804200003
PM 24332781
ER
PT J
AU Cusmano, DM
Mong, JA
AF Cusmano, Danielle M.
Mong, Jessica A.
TI In Utero Exposure to Valproic Acid Changes Sleep in Juvenile Rats: A
Model for Sleep Disturbances in Autism
SO SLEEP
LA English
DT Article
DE autism spectrum disorders; sleep; valproic acid
ID CONTROLLED-RELEASE MELATONIN; BASAL FOREBRAIN NEURONS; MESSENGER-RNA
LEVELS; EYE-MOVEMENT SLEEP; SPECTRUM DISORDERS; ANIMAL-MODEL; PRENATAL
EXPOSURE; TYPICAL DEVELOPMENT; ASPERGERS-DISORDER; FUTURE-DIRECTIONS
AB Study Objectives: To determine whether sleep disturbances are found in the valproic acid model of autism spectrum disorders (ASD).
Design: Comparative study for sleep behavior, sleep architecture, electroencephalogram (EEG) spectral analysis, and glutamic acid decarboxylase (GAD) 65/67 protein expression in juvenile rats exposed to valproic acid (VPA), sodium salt, or saline in utero.
Setting: N/A. Participants: Juvenile (postnatal day 32) male and female Sprague-Dawley rats.
Interventions: In utero exposure to either saline or 400 mg/kg VPA administered intraperitoneally to the dams on gestational day 12.5. On postnatal days 22-24, all rats were implanted with transmitters to record EEG and electromyogram (EMG) activity.
Measurements and Results: During the light phase, when nocturnal animals are typically quiescent, the VPA-exposed animals spent significantly more time in wake (similar to 35 min) and significantly less time in non-rapid eye movement (NREM) sleep (similar to 26 min) compared to the saline controls. Furthermore, spectral analysis of the EEG reveled that VPA-exposed animals exhibited increased high-frequency activity during wake and rapid eye movement (REM) sleep and reduced theta power across all vigilance states. Interestingly, the gamma-aminobutyric acid (GABA)-ergic system, which modulates the induction and maintenance of sleep states, was also disrupted, with reduced levels of both GAD 65 and GAD67 in the cortical tissue of VPA-exposed animals compared to saline controls.
Conclusions: To date, the current animal models of ASD have been underutilized in the investigation of associated sleep disturbances. The VPA animal model recapitulates aspects of sleep disruptions reported clinically, providing a tool to investigate cellular and molecular dysregulation contributing to sleep disruptions in ASD.
C1 [Cusmano, Danielle M.; Mong, Jessica A.] Univ Maryland, Sch Med, Program Neurosci, Baltimore, MD 21201 USA.
[Cusmano, Danielle M.; Mong, Jessica A.] Univ Maryland, Sch Med, Dept Pharmacol, Baltimore, MD 21201 USA.
RP Cusmano, DM (reprint author), Univ Maryland, Sch Med, 655 W Baltimore St,BRB Room 4-027, Baltimore, MD 21201 USA.
EM dcusm001@umaryland.edu
FU DOD Research Program [AR080087]
FX This was not an industry supported study. Support was provided by a DOD
Research Program AR080087 awarded to Dr. Mong. The authors have
indicated no financial conflicts of interest.
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NR 112
TC 0
Z9 0
PU AMER ACAD SLEEP MEDICINE
PI WESTCHESTER
PA ONE WESTBROOK CORPORATE CTR, STE 920, WESTCHESTER, IL 60154 USA
SN 0161-8105
EI 1550-9109
J9 SLEEP
JI Sleep
PD SEP 1
PY 2014
VL 37
IS 9
BP 1489
EP 1499
DI 10.5665/sleep.3998
PG 11
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO7DS
UT WOS:000341512900011
PM 25142574
ER
PT J
AU Zalla, T
Sirigu, A
Robic, S
Chaste, P
Leboyer, M
Coricelli, G
AF Zalla, Tiziana
Sirigu, Angela
Robic, Suzanne
Chaste, Pauline
Leboyer, Marion
Coricelli, Giorgio
TI Feelings of regret and disappointment in adults with high-functioning
autism
SO CORTEX
LA English
DT Article
DE Social cognition; Emotions; Alexithymia; Autism; Amygdala
ID DEVELOPMENTAL-DISORDERS; DIAGNOSTIC INTERVIEW; EMOTIONAL AWARENESS;
ASPERGERS-SYNDROME; SPECTRUM DISORDER; AMYGDALA THEORY; CHILDREN;
ALEXITHYMIA; SELF; MIND
AB Impairments in emotional processing in Autism Spectrum Disorders (ASDs) can be characterised by failure to generate and recognize self-reflective, cognitive-based emotions, such as pride, embarrassment and shame. Among this type of emotions, regret and disappointment, as well as their positive counterparts, result from a counterfactual comparison, that is the comparison between an actual value ("what is") and a fictive value ("what might have been"). However, while disappointment is experienced when the obtained outcome is worse than the expected outcome that might have occurred from the same choice, regret occurs when one experiences an outcome that is worse than the outcome of foregone choices. By manipulating a simple gambling task, we examined subjective reports on the intensity of negative and positive emotions in a group of adults with High-Functioning Autism or Asperger syndrome (HFA/AS), and a control group matched for age, gender and educational level. Participants were asked to choose between two lotteries with different levels of risk under two conditions of outcome feedback: (i) Partial, in which only the outcome of the chosen lottery was visible, (ii) Complete, in which the outcomes of the two lotteries were simultaneously visible. By comparing partial and complete conditions, we aimed to investigate the differential effect between disappointment and regret, as well as between their positive counterparts. Relative to the control participants (CP), the group with HFA/AS reported reduced regret and no difference between regret and disappointment, along with a preserved ability to use counterfactual thinking and similar choice behaviour. Difficulties to distinguish the feeling of regret in participants with HFA/AS can be explained by diminished emotional awareness, likely associated with an abnormal fronto-limbic connectivity. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Zalla, Tiziana] Ecole Normale Super, CNRS, Inst Jean Nicod, Dept Etudes Cognit, Paris, France.
[Sirigu, Angela] CNRS, Ctr Neurosci Cognit, UMR 5229, Bron, France.
[Robic, Suzanne] Univ Lyon 1, CNRS UMR 5292, INSERM U1028, Lyon Neurosci Res Ctr,Brain Dynam & Cognit Team, F-69365 Lyon, France.
[Chaste, Pauline; Leboyer, Marion] Univ Paris Est Creteil, AP HP, Henri Mondor Albert Chenevier Hosp,IMRB,Dept Psyc, French Natl Sci Fdn,Fdn FondaMental,INSERM U 955, Creteil, France.
[Coricelli, Giorgio] Ecole Normale Super, Dept Etudes Cognit, INSERM U 960, Lab Neurosci Cognit, F-75231 Paris, France.
[Coricelli, Giorgio] Univ So Calif, Dept Econ, Los Angeles, CA 90089 USA.
RP Zalla, T (reprint author), Ecole Normale Super, CNRS, Inst Jean Nicod, 29 Rue Ulm, Paris, France.
EM tiziana.zalla@ens.fr
FU Fondation FondaMental; Fondation Orange
FX We gratefully acknowledge the commitment of the participants and their
families to the pursuit of research in autism. This research was
supported by Fondation FondaMental and Fondation Orange to TZ and ML.
The authors wish to thank Uta Frith for her helpful comments on
preliminary data.
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NR 51
TC 4
Z9 4
PU ELSEVIER MASSON
PI MILANO
PA VIA PALEOCAPA 7, 20121 MILANO, ITALY
SN 0010-9452
EI 1973-8102
J9 CORTEX
JI Cortex
PD SEP
PY 2014
VL 58
BP 112
EP 122
DI 10.1016/j.cortex.2014.05.008
PG 11
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AO6OA
UT WOS:000341470200010
PM 25010486
ER
PT J
AU Lamport, D
Zlomke, KR
AF Lamport, Dustin
Zlomke, Kimberly R.
TI The Broader Autism Phenotype, Social Interaction Anxiety, and
Loneliness: Implications for Social Functioning
SO CURRENT PSYCHOLOGY
LA English
DT Article
DE Broader autism phenotype; Social interaction anxiety; Loneliness; Social
functioning; Personality
ID SPECTRUM QUOTIENT AQ; PERSONALITY-DISORDERS; RELIABILITY; POPULATION;
SIBLINGS; VERSION; TRAITS; PHOBIA; HEALTH; FAMILY
AB Recent research has begun to focus on the subclinical presentation of autistic-like traits in individuals, a construct termed the broader autism phenotype (BAP). The presence of the BAP has been established in both first-degree relatives of individuals with autism as well as in the general population. The current study aimed to examine how self-reported BAP characteristics, social interaction anxiety, and fear of negative evaluation relate to social functioning (specifically, loneliness) in a sample of college students. Results showed that for all subjects, BAP, social interaction anxiety, and fear of negative evaluation did not predict loneliness in a regression model. However, for males these predictors accounted for approximately 48 % of the variance in loneliness scores. Among males, individuals rating themselves as having lower social skills, lower imagination, and higher social interaction anxiety were more likely to also report feeling lonely. These results indicate that the predictors used may function differently among males and females. Although BAP characteristics and social interaction anxiety may not be important correlates of social functioning for females in this sample, they appear to be very important for males' subjective feelings of loneliness.
C1 [Lamport, Dustin; Zlomke, Kimberly R.] Univ S Alabama, Dept Psychol, Mobile, AL 36688 USA.
RP Zlomke, KR (reprint author), 307 Univ Blvd North,UCOM 1000, Mobile, AL 36688 USA.
EM zlomke@southalabama.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 26
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1046-1310
EI 1936-4733
J9 CURR PSYCHOL
JI Curr. Psychol.
PD SEP
PY 2014
VL 33
IS 3
BP 246
EP 255
DI 10.1007/s12144-014-9210-0
PG 10
WC Psychology, Multidisciplinary
SC Psychology
GA AO6AH
UT WOS:000341429200002
ER
PT J
AU Fannemel, M
Baroy, T
Holmgren, A
Rodningen, OK
Haugsand, TM
Hansen, B
Frengen, E
Misceo, D
AF Fannemel, Madeleine
Baroy, Tuva
Holmgren, Asbjorn
Rodningen, Olaug K.
Haugsand, Trine M.
Hansen, Borre
Frengen, Eirik
Misceo, Doriana
TI Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in
2p15, in a patient with mild intellectual disability and cranio-facial
dysmorphisms
SO EUROPEAN JOURNAL OF MEDICAL GENETICS
LA English
DT Article
DE Congenital anomalies; Dysmorphic features; Intellectual disability;
USP34; XPO1 or CRM1; 2p15p16.1 Deletion syndrome
ID RECOGNIZED MICRODELETION SYNDROME; MB DELETION; 2P15-P16.1; 2P15-16.1;
2P15P16.1; SPECTRUM; FEATURES; REGION
AB 2p15p16.1-deletion syndrome was first described in 2007 based on the clinical presentation of two patients. The syndrome is characterized by intellectual disability, autism spectrum disorders, microcephaly, dysmorphic facial features and a variety of congenital organ defects. The precise genotype-phenotype correlation in 2p15-deletion syndrome is not understood. However, greater insight can be obtained by thorough clinical investigation of patients carrying deletions, especially those of small size. We report a 21-year-old male patient with features overlapping the clinical spectrum of the 2p15p16.1-deletion syndrome, such as intellectual disability, dysmorphic facial features, and congenital defects. He carried a 230 kb de novo deletion (chr2:61500346-61733075 bp, hg19), which affects the genes USP34, SNORA70B and XPO1. While there is a lack of functional data on SNORA70B, the involvement of USP34 and XPO1 in the regulation of fundamental developmental processes is well known. We suggest that haploinsufficiency of one or both of these genes is likely to be responsible for the disease in our patient. (C) 2014 Elsevier Masson SAS. All rights reserved.
C1 [Fannemel, Madeleine; Baroy, Tuva; Holmgren, Asbjorn; Rodningen, Olaug K.; Frengen, Eirik; Misceo, Doriana] Univ Oslo, Dept Med Genet, N-0315 Oslo, Norway.
[Fannemel, Madeleine; Baroy, Tuva; Holmgren, Asbjorn; Rodningen, Olaug K.; Frengen, Eirik; Misceo, Doriana] Oslo Univ Hosp, Oslo, Norway.
[Haugsand, Trine M.; Hansen, Borre] Akershus Univ Hosp, Dept Adult Habilitat, Oslo, Norway.
RP Misceo, D (reprint author), Univ Oslo, Dept Med Genet, POB 1036, N-0315 Oslo, Norway.
EM uxmafa@ous-hf.no; tuva.baroy@medisin.uio.no;
asbjorn.holmgren@medisin.uio.no; uxrdol@ous-hf.no;
trine.haugsand@ahus.no; borre.hansen@ahus.no;
eirik.frengen@medisin.uio.no; doriana.misceo@medisin.uio.no
FU Southeastern Regional Health Authorities [2011071]; Ulleval University
Hospital Research Fund (VIRUUS); Anders Jahres fond til vitenskapens
fremme
FX We would like to thank the family for collaboration and contribution to
this project. We are grateful to Dr. William Louch for language revision
of the manuscript. This work was supported by a grant from the
Southeastern Regional Health Authorities (project no 2011071), Ulleval
University Hospital Research Fund (VIRUUS), and DM was supported by
"Anders Jahres fond til vitenskapens fremme".
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NR 23
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 1769-7212
EI 1878-0849
J9 EUR J MED GENET
JI Eur. J. Med. Genet.
PD SEP
PY 2014
VL 57
IS 9
BP 513
EP 519
DI 10.1016/j.ejmg.2014.05.008
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AO5DS
UT WOS:000341363100006
PM 24911659
ER
PT J
AU Rosello, M
Martinez, F
Monfort, S
Mayo, S
Oltra, S
Orellana, C
AF Rosello, Monica
Martinez, Francisco
Monfort, Sandra
Mayo, Sonia
Oltra, Silvestre
Orellana, Carmen
TI Phenotype profiling of patients with intellectual disability and copy
number variations
SO EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
LA English
DT Article
DE Intellectual disability; Array-CGH; Phenotype; Clinical database
ID COMPARATIVE GENOMIC HYBRIDIZATION; CLINICAL DIAGNOSTIC-TEST;
MENTAL-RETARDATION; CHROMOSOMAL MICROARRAY; ARRAY-CGH; SUBTELOMERIC
REARRANGEMENTS; DEVELOPMENTAL-DISABILITIES; DYSMORPHIC FEATURES;
AMERICAN-COLLEGE; IMBALANCES
AB Background: Nowadays the microarray technology allows whole-genome analysis with a high resolution and performance for the genetic diagnosis in any patient with intellectual disability or autism spectrum disorder. However in the immediate future, with the development of massive sequencing systems for application at clinical diagnosis, it will be necessary to have clinical criteria to guide studies.
Aim: To perform an exhaustive clinical definition of patients with pathogenic copy number variations in order to establish the clinical criteria most suggestive of this kind of genomic rearrangements.
Method: We designed and implemented a database to collect 190 different clinical variables (pregnancy, neonatal, facial dysmorphism, congenital anomalies, neurological features and family history) in a series of 246 patients, with developmental delay/intellectual disability. All cases were studied with array comparative genomic hybridization.
Results: We have found a pathogenic genomic imbalance in 73 patients. Frequency analysis of all clinical variables showed that growth disorder, abnormalities of hands, low-set ears and hypertelorism are the more frequent features among patients with genomic rearrangements. However other clinical features, such as genital abnormalities and aggressiveness, are more specifically associated with pathogenic copy number variations in spite of their low frequencies in the overall series, yielding higher statistical significance values than other traits.
Conclusions: The genotype phenotype comparison may be useful to set in the future the main clinical manifestations associated with deletions, duplications and unbalanced translocations. Theses analyses will improve the clinical indications and protocols to implement genomic arrays in the genetic study of patients with neurodevelopment disorders. (C) 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
C1 [Rosello, Monica; Martinez, Francisco; Monfort, Sandra; Mayo, Sonia; Oltra, Silvestre; Orellana, Carmen] Hosp Univ & Politecn La Fe, Unidad Genet & Diagnost Prenatal, Valencia 46009, Spain.
RP Rosello, M (reprint author), Hosp Univ & Politecn La Fe, Unidad Genet & Diagnost Prenatal, Ave Campanar 21, Valencia 46009, Spain.
EM rosello_mpi@gva.es
RI Monfort, Sandra/B-2860-2009; Rosello, Monica/B-2319-2009; Orellana,
Carmen/B-1925-2009; Oltra, Silvestre/A-2697-2009; Martinez,
Francisco/A-2543-2009
OI Rosello, Monica/0000-0001-9234-2953; Orellana,
Carmen/0000-0003-4271-5859; Oltra, Silvestre/0000-0001-6863-4382;
Martinez, Francisco/0000-0002-0589-2584
FU Instituto de Salud Carlos III [RD09/0076/00021]; Fundacion para la
Investigacion del Hospital La Fe/Fundacion Bancaja fellowship; Fundacion
Ramon Areces [PI 2009/0093]; National Public Agencies [PI04/0421,
PI08/0648]; Autonomics [AP-096/06, AP-138/11]
FX This work has been possible thanks to the collaboration of patients and
families, the health professionals who referred the patients, the staff
of the Genetics Unit of the Hospital Universitari i Politecnic "La Fe"
and the aid received through grants of private agencies (Fundacion Ramon
Areces PI 2009/0093) and National Public Agencies (PI04/0421, PI08/0648)
and Autonomics (AP-096/06, AP-138/11). This study was supported in part
by research funding from the "Instituto de Salud Carlos III" grant: "Red
de Biobancos Hospitalarios" (RD09/0076/00021). Sonia Mayo was supported
by the Fundacion para la Investigacion del Hospital La Fe/Fundacion
Bancaja fellowship.
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Battaglia A, 2013, EUR J PAEDIATR NEURO, V17, P589, DOI 10.1016/j.ejpn.2013.04.010
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NR 26
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1090-3798
EI 1532-2130
J9 EUR J PAEDIATR NEURO
JI Eur. J. Paediatr. Neurol.
PD SEP
PY 2014
VL 18
IS 5
BP 558
EP 566
DI 10.1016/j.ejpn.2014.04.010
PG 9
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AO7SG
UT WOS:000341552300002
PM 24815074
ER
PT J
AU Moses, L
Katz, N
Weizman, A
AF Moses, L.
Katz, N.
Weizman, A.
TI Metabolic profiles in adults with autism spectrum disorder and
intellectual disabilities
SO EUROPEAN PSYCHIATRY
LA English
DT Article
DE Autism; Intellectual disabilities; Cholesterol; Glucose; Metabolic
profile
ID SERUM-CHOLESTEROL LEVEL; DOWNS-SYNDROME; ANTIPSYCHOTIC-DRUGS; LIPIDS;
LIPOPROTEINS; HYPERCHOLESTEROLEMIA; SCHIZOPHRENIA; HYPERTENSION;
ASSOCIATION; ADOLESCENTS
AB Introduction: Low levels of blood cholesterol have been found in some children with autism spectrum disorders (ASD). Psychotropic medications, commonly used by people with ASD and people with intellectual disabilities (ID) are frequently associated with altered metabolic profiles.
Purpose: We aimed to compare metabolic features of adults with ASD or ID with those of a community-based population.
Subjects and methods: Data on blood fasting glucose (FBG), lipid profile, liver enzyme profile, TSH, BMI, medications and diagnoses of 80 adults with ASD, 77 adults with ID and 828 control adults were drawn from medical charts/database. Candidates that used glucose or lipid lowering medications were not included.
Results: Total-cholesterol levels of people with ASD and ID were significantly lower than those of the controls (168.3 +/- 32.78, 168.2 +/- 32.91, 185.4 +/- 40.49 mg/dL, respectively, P < 0.001) but after adjusting for gender, age and BMI and using Bonferroni correction, the significance was lost. Compared to controls, ASD and ID had significantly lower FBG (by -14.45 +/- 1.81, -14.58 +/- 1.54 mg/dl, respectively; P < 0.001 for both) and liver enzymes, despite using psychotropic medications.
Discussion and conclusion: In contrast to other psychiatric patients receiving similar medications, people with ASD and ID have unaltered lipid profiles and lower glucose and liver enzyme levels compared to a community-based population. (C) 2013 Elsevier Masson SAS. All rights reserved.
C1 [Moses, L.] Minist Social Affairs & Social Serv, Div Intellectual & Dev Disabil, Hlth Serv, Jerusalem, Israel.
[Moses, L.] Maccabi Hlth Serv, South Dist, Israel.
[Katz, N.; Weizman, A.] Tel Aviv Univ, Petah Tikva & Sackler Fac Med, Geha Mental Hlth Ctr, IL-69978 Tel Aviv, Israel.
[Weizman, A.] Tel Aviv Univ, Sackler Fac Med, Felsenstein Med Res Ctr, Lab Biol Psychiat, Petah Tiqwa, Israel.
RP Moses, L (reprint author), Moshav Nir Hen 4, IL-79330 Rehovot, Israel.
EM lilachmoses@yahoo.com
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NR 31
TC 0
Z9 0
PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
PI PARIS
PA 23 RUE LINOIS, 75724 PARIS, FRANCE
SN 0924-9338
EI 1778-3585
J9 EUR PSYCHIAT
JI Eur. Psychiat.
PD SEP
PY 2014
VL 29
IS 7
BP 397
EP 401
DI 10.1016/j.eurpsy.2013.05.005
PG 5
WC Psychiatry
SC Psychiatry
GA AO5OR
UT WOS:000341395000001
PM 23849396
ER
PT J
AU Groskreutz, NC
Groskreutz, MP
Bloom, SE
Slocum, TA
AF Groskreutz, Nicole C.
Groskreutz, Mark P.
Bloom, Sarah E.
Slocum, Timothy A.
TI Generalization of negatively reinforced mands in children with autism
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE autism; manding; functional communication; negative reinforcement;
stimulus generalization
ID FUNCTIONAL COMMUNICATION; PROBLEM BEHAVIOR; DEVELOPMENTAL-DISABILITIES
AB Each day, people encounter stimuli they find unpleasant. Some children with autism may require systematic instruction to acquire the communication skills necessary to request the termination of such aversive stimuli. We taught 2 school-aged boys with autism a mand (e.g., signing stop) that could be used to escape a variety of aversive stimuli. First, we employed a systematic assessment to identify aversive stimuli to use during training. We then conducted mand training sequentially across those stimuli until sufficient exemplars were trained for generalization to occur to untrained stimuli. For both participants, cross-stimulus generalization was observed after training with 2 stimuli. Participants manded for escape in the presence of aversive stimuli, but almost never manded in the presence of preferred stimuli or when the programmed stimuli were absent. In addition, we found an inverse relation between acquisition of the mand and engagement in problem behavior and evidence of generalization to nontraining contexts.
C1 [Groskreutz, Nicole C.; Bloom, Sarah E.; Slocum, Timothy A.] Utah State Univ, Logan, UT 84322 USA.
[Groskreutz, Mark P.] So Connecticut State Univ, New Haven, CT USA.
RP Slocum, TA (reprint author), Dept Special Educ & Rehabil, 2865 Old Main Hill, Logan, UT 84322 USA.
EM tim.slocum@usu.edu
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NR 27
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD FAL
PY 2014
VL 47
IS 3
BP 560
EP 579
DI 10.1002/jaba.151
PG 20
WC Psychology, Clinical
SC Psychology
GA AO7EE
UT WOS:000341514100008
PM 25087550
ER
PT J
AU Rispoli, M
Camargo, S
Machalicek, W
Lang, R
Sigafoos, J
AF Rispoli, Mandy
Camargo, Siglia
Machalicek, Wendy
Lang, Russell
Sigafoos, Jeff
TI Functional communication training in the treatment of problem behavior
maintained by access to rituals
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE autism; functional communication training; extinction; schedule
thinning; resurgence
ID AUTISM SPECTRUM DISORDER; OBSESSIVE-COMPULSIVE DISORDER; DIFFERENTIAL
REINFORCEMENT; CHALLENGING BEHAVIOR; DEVELOPMENTAL-DISABILITIES;
REPETITIVE BEHAVIORS; DESTRUCTIVE BEHAVIOR; ESCAPE BEHAVIOR; EXTINCTION;
INTERVENTION
AB This study evaluated the assessment and treatment of problem behaviors related to rituals for children with autism. After functional analyses, we used a multiple-probe design to examine the effects of functional communication training (FCT) plus extinction and schedule thinning as a treatment package for problem behavior and appropriate communication for 3 children. Results of the functional analyses suggested that problem behavior was maintained by reinstatement of the interrupted routine for all participants, and the treatment package reduced problem behavior. Generalization across activities was observed for 1 participant.
C1 [Rispoli, Mandy; Camargo, Siglia] Texas A&M Univ, College Stn, TX 77843 USA.
[Machalicek, Wendy] Univ Oregon, Eugene, OR 97403 USA.
[Lang, Russell] Texas State Univ, Clin Autism Res Evaluat & Support, Round Rock, TX 78655 USA.
[Sigafoos, Jeff] Victoria Univ Wellington, Wellington, New Zealand.
RP Rispoli, M (reprint author), 4225 Texas A&M Univ, Dept Educ Psychol, College Stn, TX 77843 USA.
EM mrispoli@tamu.edu
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Szatmari P, 2006, J CHILD PSYCHOL PSYC, V47, P582, DOI 10.1111/j.1469-7610.2005.01537.x
NR 40
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD FAL
PY 2014
VL 47
IS 3
BP 580
EP 593
DI 10.1002/jaba.130
PG 14
WC Psychology, Clinical
SC Psychology
GA AO7EE
UT WOS:000341514100009
PM 24817482
ER
PT J
AU Grow, LL
Kodak, T
Carr, JE
AF Grow, Laura L.
Kodak, Tiffany
Carr, James E.
TI A comparison of methods for teaching receptive labeling to children with
autism spectrum disorders: A systematic replication
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE autism; conditional discrimination training; receptive language;
stimulus control
AB Previous research has demonstrated that the conditional-only method (starting with a multiple-stimulus array) is more efficient than the simple-conditional method (progressive incorporation of more stimuli into the array) for teaching receptive labeling to children with autism spectrum disorders (Grow, Carr, Kodak, Jostad, & Kisamore, ). The current study systematically replicated the earlier study by comparing the 2 approaches using progressive prompting with 2 boys with autism. The results showed that the conditional-only method was a more efficient and reliable teaching procedure than the simple-conditional method. The results further call into question the practice of teaching simple discriminations to facilitate acquisition of conditional discriminations.
C1 [Grow, Laura L.] Univ British Columbia, Vancouver, BC V5Z 1M9, Canada.
[Kodak, Tiffany] Univ Oregon, Eugene, OR 97403 USA.
RP Grow, LL (reprint author), Dept Educ & Counselling Psychol & Special Educ, 2125 Main Mall, Vancouver, BC V6T 1Z4, Canada.
EM laura.grow@ubc.ca
CR DeLeon IG, 1996, J APPL BEHAV ANAL, V29, P519, DOI 10.1901/jaba.1996.29-519
DOYLE PM, 1989, RES DEV DISABIL, V10, P349, DOI 10.1016/0891-4222(89)90036-X
Green G., 2001, FOCUS AUTISM OTHER D, V16, P72, DOI 10.1177/108835760101600203
Grow LL, 2011, J APPL BEHAV ANAL, V44, P475, DOI 10.1901/jaba.2011.44-475
Gutierrez A, 2009, RES AUTISM SPECT DIS, V3, P630, DOI 10.1016/j.rasd.2008.12.005
Johnston SS, 2009, AUGMENT ALTERN COMM, V25, P136, DOI 10.1080/07434610902921516
Lovaas O. I., 2003, TEACHING INDIVIDUALS
Love JR, 2009, RES AUTISM SPECT DIS, V3, P421, DOI 10.1016/j.rasd.2008.08.008
Martin G. L., 2000, J DEV DISABILITIES, V7, P10
NR 9
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD FAL
PY 2014
VL 47
IS 3
BP 600
EP 605
DI 10.1002/jaba.141
PG 6
WC Psychology, Clinical
SC Psychology
GA AO7EE
UT WOS:000341514100011
PM 24902513
ER
PT J
AU Ward-Horner, JC
Pittenger, A
Pace, G
Fienup, DM
AF Ward-Horner, John C.
Pittenger, Alexis
Pace, Gary
Fienup, Daniel M.
TI Effects of reinforcer magnitude and distribution on preference for work
schedules
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE preference; choice; autism; concurrent-chains arrangements;
reinforcement magnitude
ID QUALITY
AB When the overall magnitude of reinforcement is matched between 2 alternative work schedules, some students prefer to complete all of their work for continuous access to a reinforcer (continuous work) rather than distributed access to a reinforcer while they work (discontinuous work). We evaluated a student's preference for continuous work by manipulating the overall magnitude of reinforcement associated with continuous work. Preference for continuous work persisted despite a 20% decrease in reinforcer magnitude; however, a 40% decrease in reinforcer magnitude produced a shift in preference to discontinuous work.
C1 [Ward-Horner, John C.] Beacon ABA Serv Inc, Milford, MA 01757 USA.
[Ward-Horner, John C.; Pittenger, Alexis; Pace, Gary] May Ctr Educ & Neurorehabil, Brockton, MA USA.
[Fienup, Daniel M.] CUNY Queens Coll, New York, NY USA.
RP Ward-Horner, JC (reprint author), Beacon ABA Serv Inc, 321 Fortune Blvd, Milford, MA 01757 USA.
EM wardhornerj@gmail.com
CR DeLeon I. G., 2014, J APPL BEHAV ANAL, V47
Fienup DM, 2011, J APPL BEHAV ANAL, V44, P847, DOI 10.1901/jaba.2011.44-847
Fisher WW, 1997, J APPL BEHAV ANAL, V30, P387, DOI 10.1901/jaba.1997.30-387
Hanley GP, 2005, J APPL BEHAV ANAL, V38, P51, DOI 10.1901/jaba.2005.6-04
Hanley GP, 1997, J APPL BEHAV ANAL, V30, P459, DOI 10.1901/jaba.1997.30-459
Hoch H, 2002, J APPL BEHAV ANAL, V35, P171, DOI 10.1901/jaba.2002.35-171
Mace FC, 1996, J APPL BEHAV ANAL, V29, P11, DOI 10.1901/jaba.1996.29-11
Roane HS, 1998, J APPL BEHAV ANAL, V31, P605, DOI 10.1901/jaba.1998.31-605
NR 8
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD FAL
PY 2014
VL 47
IS 3
BP 623
EP 627
DI 10.1002/jaba.133
PG 5
WC Psychology, Clinical
SC Psychology
GA AO7EE
UT WOS:000341514100015
PM 24825241
ER
PT J
AU Roane, HS
DeRosa, NM
AF Roane, Henry S.
DeRosa, Nicole M.
TI Reduction of emergent dropping behavior during treatment of elopement
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE autism; dropping; elopement
ID RESPONSE-CLASS HIERARCHIES; COMMUNICATION; REINFORCERS; DISORDERS
AB Although treatments for elopement (leaving an assigned area or a caregiver without permission) and dropping (falling to the floor) have been reported in the literature, there are no studies that have examined the concurrent treatment of these behaviors. The current investigation reports on the emergence and treatment of dropping during the treatment of elopement.
C1 [Roane, Henry S.; DeRosa, Nicole M.] SUNY Upstate Med Univ, Syracuse, NY 13210 USA.
RP Roane, HS (reprint author), Dept Pediat, 600 E Genesee St,Suite 130, Syracuse, NY 13202 USA.
EM roaneh@upstate.edu
CR Anderson C, 2012, PEDIATRICS, V130, P870, DOI 10.1542/peds.2012-0762
Betz AM, 2013, J APPL BEHAV ANAL, V46, P219, DOI 10.1002/jaba.23
Bowman LG, 1997, J APPL BEHAV ANAL, V30, P451, DOI 10.1901/jaba.1997.30-451
DeLeon IG, 1996, J APPL BEHAV ANAL, V29, P519, DOI 10.1901/jaba.1996.29-519
DeRosa NM, 2013, J DEV PHYS DISABIL, V25, P119, DOI 10.1007/s10882-012-9312-2
FISHER W, 1992, J APPL BEHAV ANAL, V25, P491, DOI 10.1901/jaba.1992.25-491
FRIMAN PC, 1987, J APPL BEHAV ANAL, V20, P421, DOI 10.1901/jaba.1987.20-421
Hagopian LP, 2003, BEHAV INTERVENT, V18, P291, DOI 10.1002/bin.140
HERBERT EW, 1973, J APPL BEHAV ANAL, V6, P15
Lalli JS, 1995, J APPL BEHAV ANAL, V28, P551, DOI 10.1901/jaba.1995.28-551
Lieving GA, 2004, PSYCHOL REC, V54, P621
Mace FC, 2011, J APPL BEHAV ANAL, V44, P83, DOI 10.1901/jaba.2011.44-83
Richman DM, 1999, J APPL BEHAV ANAL, V32, P269, DOI 10.1901/jaba.1999.32-269
SAJWAJ T, 1972, J APPL BEHAV ANAL, V5, P163, DOI 10.1901/jaba.1972.5-163
NR 14
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD FAL
PY 2014
VL 47
IS 3
BP 633
EP 638
DI 10.1002/jaba.136
PG 6
WC Psychology, Clinical
SC Psychology
GA AO7EE
UT WOS:000341514100017
PM 24825372
ER
PT J
AU Brodhead, MT
Higbee, TS
Pollard, JS
Akers, JS
Gerencser, KR
AF Brodhead, Matthew T.
Higbee, Thomas S.
Pollard, Joy S.
Akers, Jessica S.
Gerencser, Kristina R.
TI The use of linked activity schedules to teach children with autism to
play hide-and-seek
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE activity schedules; autism; social interactions
AB Linked activity schedules were used to establish appropriate game play in children with autism during a game of hide-and-seek. All 6 participants demonstrated acquisition of appropriate play skills in the presence of the activity schedules and maintained responding during subsequent phases. When the schedules were removed, responding decreased to baseline levels, demonstrating that the schedules controlled responding. Implications for future research on the use of activity schedules to teach social behavior are discussed.
C1 [Brodhead, Matthew T.; Higbee, Thomas S.; Pollard, Joy S.; Akers, Jessica S.; Gerencser, Kristina R.] Utah State Univ, Logan, UT 84332 USA.
RP Higbee, TS (reprint author), Utah State Univ, 2865 Old Main Hill, Logan, UT 84332 USA.
EM tom.higbee@usu.edu
CR Betz A, 2008, J APPL BEHAV ANAL, V41, P237, DOI 10.1901/jaba.2008.41-237
Cooper J. O., 2007, APPL BEHAV ANAL
Koyama T, 2011, RES DEV DISABIL, V32, P2235, DOI 10.1016/j.ridd.2011.05.003
MACDUFF GS, 1993, J APPL BEHAV ANAL, V26, P89, DOI 10.1901/jaba.1993.26-89
McClannahan L. E., 1999, ACTIVITY SCHEDULES C
NR 5
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD FAL
PY 2014
VL 47
IS 3
BP 645
EP 650
DI 10.1002/jaba.145
PG 6
WC Psychology, Clinical
SC Psychology
GA AO7EE
UT WOS:000341514100019
PM 24905481
ER
PT J
AU Hoffman, K
Falcomata, TS
AF Hoffman, Katherine
Falcomata, Terry S.
TI An evaluation of resurgence of appropriate communication in individuals
with autism who exhibit severe problem behavior
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE autism; clinical relapse; mands; problem behavior; resurgence
ID EXTINCTION
AB We evaluated resurgence of mands exhibited by 3 individuals with autism and histories of problem behavior. The experimental conditions consisted of (a) reinforcement of a mand, (b) extinction, (c) reinforcement of a 2nd mand, and (d) extinction to test for resurgence of the 1st mand. This 4-component sequence was implemented 3 times with each participant, and resurgence occurred during 8 of 9 tests for resurgence. Results are discussed in terms of implications for the prevention of clinical relapse.
C1 Univ Texas Austin, Austin, TX 78712 USA.
RP Falcomata, TS (reprint author), Univ Texas Austin, Dept Special Educ, 1 Univ Stn D5300, Austin, TX 78712 USA.
EM falcomata@mail.utexas.edu
CR Bruzek JL, 2009, J EXP ANAL BEHAV, V92, P327, DOI 10.1901/jeab.2009-92-327
EPSTEIN R, 1983, BEHAV ANAL LETT, V3, P391
Lieving GA, 2003, J EXP ANAL BEHAV, V80, P217, DOI 10.1901/jeab.2003.80-217
Lieving GA, 2004, PSYCHOL REC, V54, P621
Reed P, 2006, J EXP ANAL BEHAV, V86, P307, DOI 10.1901/jeab.2006.20-05
Roane HS, 1998, J APPL BEHAV ANAL, V31, P605, DOI 10.1901/jaba.1998.31-605
St Peter Pipkin C., 2010, J APPL BEHAV ANAL, V43, P47, DOI [10.1901/jaba.2010.43-47, DOI 10.1901/JABA.2010.43-47]
Volkert VM, 2009, J APPL BEHAV ANAL, V42, P145, DOI 10.1901/jaba.2009.42-145
Wacker DP, 2011, J EXP ANAL BEHAV, V96, P261, DOI 10.1901/jeab.2011.96-261
NR 9
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD FAL
PY 2014
VL 47
IS 3
BP 651
EP 656
DI 10.1002/jaba.144
PG 6
WC Psychology, Clinical
SC Psychology
GA AO7EE
UT WOS:000341514100020
PM 24910326
ER
PT J
AU Majdalany, LM
Wilder, DA
Greif, A
Mathisen, D
Saini, V
AF Majdalany, Lina M.
Wilder, David A.
Greif, Abigail
Mathisen, David
Saini, Valdeep
TI Comparing massed-trial instruction, distributed-trial instruction, and
task interspersal to teach tacts to children with autism spectrum
disorders
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE discrete-trial instruction; autism spectrum disorders; skill acquisition
AB Although massed-trial instruction, distributed-trial instruction, and task interspersal have been shown to be effective methods of teaching skills to children with autism spectrum disorders, they have not been directly compared. In the current study, we taught 6 children to tact shapes of countries using these methods to determine which would result in the quickest acquisition. Five of the 6 participants acquired the targets in the massed-trial condition before the other 2 conditions.
C1 Florida Inst Technol, Melbourne, FL 32901 USA.
RP Wilder, DA (reprint author), Florida Inst Technol, Sch Behav Anal, 150 West Univ Blvd, Melbourne, FL 32901 USA.
EM dawilder@fit.edu
CR Bambara L. M., 1993, STRATEGIES TEACHING, P165
Chiara L, 1995, J EARLY INTERVENTION, V19, P203
Sundberg M. L., 2008, VB MAPP VERBAL BEHAV
Volkert VM, 2008, J APPL BEHAV ANAL, V41, P335, DOI 10.1901/jaba.2008.41-335
NR 4
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD FAL
PY 2014
VL 47
IS 3
BP 657
EP 662
DI 10.1002/jaba.149
PG 6
WC Psychology, Clinical
SC Psychology
GA AO7EE
UT WOS:000341514100021
PM 24988891
ER
PT J
AU Sham, E
Smith, T
AF Sham, Elyssa
Smith, Tristram
TI Publication bias in studies of an applied behavior-analytic
intervention: An initial analysis
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE publication bias; behavior analysis; single-subject research; autism;
pivotal response treatment
AB Publication bias arises when studies with favorable results are more likely to be reported than are studies with null findings. If this bias occurs in studies with single-subject experimental designs (SSEDs) on applied behavior-analytic (ABA) interventions, it could lead to exaggerated estimates of intervention effects. Therefore, we conducted an initial test of bias by comparing effect sizes, measured by percentage of nonoverlapping data (PND), in published SSED studies (n=21) and unpublished dissertations (n=10) on 1 well-established intervention for children with autism, pivotal response treatment (PRT). Although published and unpublished studies had similar methodologies, the mean PND in published studies was 22% higher than in unpublished studies, 95% confidence interval (4%, 38%). Even when unpublished studies are included, PRT appeared to be effective (PNDM=62%). Nevertheless, the disparity between published and unpublished studies suggests a need for further assessment of publication bias in the ABA literature.
C1 [Sham, Elyssa; Smith, Tristram] Univ Rochester, Med Ctr, Rochester, NY 14642 USA.
RP Smith, T (reprint author), Univ Rochester, Div Neurodev & Behav Pediat, Dept Pediat, Med Ctr, 601 Elmwood Ave,Box 671, Rochester, NY 14642 USA.
EM Tristram_Smith@URMC.Rochester.edu
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD FAL
PY 2014
VL 47
IS 3
BP 663
EP 678
DI 10.1002/jaba.146
PG 16
WC Psychology, Clinical
SC Psychology
GA AO7EE
UT WOS:000341514100022
PM 24990802
ER
PT J
AU Uppal, N
Wicinski, B
Buxbaum, JD
Heinsen, H
Schmitz, C
Hof, PR
AF Uppal, Neha
Wicinski, Bridget
Buxbaum, Joseph D.
Heinsen, Helmut
Schmitz, Christoph
Hof, Patrick R.
TI Neuropathology of the Anterior Midcingulate Cortex in Young Children
With Autism
SO JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
LA English
DT Article
DE Anterior cingulate cortex; Anterior midcingulate cortex; Autism;
Neuropathology; Stereology; von Economo neuron
ID VON ECONOMO NEURONS; POSITRON-EMISSION-TOMOGRAPHY; CINGULATE CORTEX;
PREFRONTAL CORTEX; PYRAMIDAL NEURONS; CEREBRAL-CORTEX; WHITE-MATTER;
SPECTRUM DISORDER; COGNITIVE CONTROL; RHESUS-MONKEY
AB The anterior cingulate cortex, which is involved in cognitive and affective functioning, is important in investigating disorders in which individuals exhibit impairments in higher-order functions. In this study, we examined the anterior midcingulate cortex (aMCC) at the cellular level in patients with autism and in controls. We focused our analysis on layer V of the aMCC because it contains von Economo neurons, specialized cells thought to be involved in emotional expression and focused attention. Using a stereologic approach, we determined whether there were neuropathologic changes in von Economo neuron number, pyramidal neuron number, or pyramidal neuron size between diagnostic groups. When the groups were subdivided into young children and adolescents, pyramidal neuron and von Economo neuron numbers positively correlated with autism severity in young children, as measured by the Autism Diagnostic Interview-Revised. Young children with autism also had significantly smaller pyramidal neurons than their matched controls. Because the aMCC is involved in decision-making during uncertain situations, decreased pyramidal neuron size may reflect a potential reduction in the functional connectivity of the aMCC.
C1 [Uppal, Neha; Wicinski, Bridget; Hof, Patrick R.] Icahn Sch Med Mt Sinai, Fishberg Dept Neurosci, New York, NY 10029 USA.
[Uppal, Neha; Wicinski, Bridget; Buxbaum, Joseph D.; Hof, Patrick R.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY 10029 USA.
[Uppal, Neha; Buxbaum, Joseph D.; Hof, Patrick R.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA.
[Uppal, Neha; Buxbaum, Joseph D.; Hof, Patrick R.] Icahn Sch Med Mt Sinai, Grad Sch Biomed Sci, New York, NY 10029 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA.
[Heinsen, Helmut] Univ Wurzburg, Dept Psychiat, Morphol Brain Res Unit, Wurzburg, Germany.
[Schmitz, Christoph] Univ Munich, Dept Neuroanat, Munich, Germany.
RP Hof, PR (reprint author), Icahn Sch Med Mt Sinai, Fishberg Dept Neurosci, One Gustave L Levy Pl,Box 1639, New York, NY 10029 USA.
EM patrick.hof@mssm.edu
FU Seaver Foundation; Autism Speaks (Autism Celloidin Library); James S.
McDonnell Foundation; Simons Foundation
FX This work was supported by the Seaver Foundation (NU, JDB, PRH), Autism
Speaks (Autism Celloidin Library, PRH), the James S. McDonnell
Foundation (PRH), and the Simons Foundation (PRH, JDB).
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NR 83
TC 1
Z9 1
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0022-3069
EI 1554-6578
J9 J NEUROPATH EXP NEUR
JI J. Neuropathol. Exp. Neurol.
PD SEP
PY 2014
VL 73
IS 9
BP 891
EP 902
PG 12
WC Clinical Neurology; Neurosciences; Pathology
SC Neurosciences & Neurology; Pathology
GA AO5PW
UT WOS:000341398300008
PM 25101703
ER
PT J
AU Reynolds, LC
Inder, TE
Neil, JJ
Pineda, RG
Rogers, CE
AF Reynolds, L. C.
Inder, T. E.
Neil, J. J.
Pineda, R. G.
Rogers, C. E.
TI Maternal obesity and increased risk for autism and developmental delay
among very preterm infants
SO JOURNAL OF PERINATOLOGY
LA English
DT Article
ID LOW-BIRTH-WEIGHT; BODY-MASS INDEX; NEURODEVELOPMENTAL OUTCOMES; MODIFIED
CHECKLIST; GESTATIONAL-AGE; DISORDERS; CHILDREN; BORN; PREPREGNANCY;
IMPAIRMENT
AB OBJECTIVE: Thirty-five percent of women of child-bearing age are obese, and there is evidence that maternal obesity may increase the risk for adverse neurodevelopmental outcome. However, research regarding obesity and neurodevelopment among children born preterm is limited. This study aimed to determine associations between maternal obesity and neurodevelopment in very preterm children at age 2 years.
STUDY DESIGN: Maternal/infant dyads (n=62) born <= 30 weeks gestation were enrolled in a prospective cohort study at a level-III neonatal intensive care unit. Mothers were classified as obese or non-obese based on pre-pregnancy body mass index. Infants underwent magnetic resonance imaging at term equivalent and developmental testing at age 2. Maternal obesity was investigated for associations with neurodevelopment.
RESULT: Maternal obesity was associated with positive screen for autism (odds ratio = 9.88, P=0.002) and lower composite language scores (beta = -9.36, (confidence interval = -15.11, -3.61), P=0.002).
CONCLUSION: Maternal obesity was associated with adverse neurodevelopmental outcome at age 2 in this cohort of very preterm children. This study requires replication, but may support targeted surveillance of infants born to women with maternal obesity.
C1 [Reynolds, L. C.; Rogers, C. E.] Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA.
[Reynolds, L. C.; Inder, T. E.; Pineda, R. G.; Rogers, C. E.] Washington Univ, Sch Med, Dept Pediat, St Louis, MO 63110 USA.
[Inder, T. E.; Neil, J. J.] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA.
[Inder, T. E.; Neil, J. J.] Washington Univ, Sch Med, Dept Radiol, St Louis, MO 63110 USA.
[Pineda, R. G.] Washington Univ, Sch Med, Program Occupat Therapy, St Louis, MO 63110 USA.
RP Reynolds, LC (reprint author), Washington Univ, Sch Med, Dept Pediat, Campus Box 8116 660 S Euclid Ave, St Louis, MO 63110 USA.
EM reynoldsL@wusm.wustl.edu
FU National Institute of Health [ROI HD 057098]; Doris Duke Foundation;
Washington University Intellectual and Developmental Disabilities
Research Center [NIH/NICHD P30 HD062171]; National Center for Advancing
Translational Sciences [UL1 TR000448, KL2 TR000450]
FX We wish to acknowledge Karen Lukas RN (Washington University School of
Medicine), Anthony Barton (Washington University School of Medicine),
Jessica Conners (Washington University School of Medicine), Dimitrios
Alexopolous MS (Washington University School of Medicine), Joe Ackerman,
Jr (Washington University School of Medicine), Claudine Vavasseur MD
(National Maternity Hospital, Dublin Ireland) and Han Tjoeng MD
(University of Hawaii) who obtained informed consents and conducted
patient-oriented responsibilities to support the success of this
project. We also wish to thank all the families whose infants
participated in this study. This project was supported by the National
Institute of Health (ROI HD 057098), the Doris Duke Foundation, the
Washington University Intellectual and Developmental Disabilities
Research Center (NIH/NICHD P30 HD062171), and the UL1 TR000448, sub
award KL2 TR000450 from the National Center for Advancing Translational
Sciences.
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NR 48
TC 2
Z9 2
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 0743-8346
EI 1476-5543
J9 J PERINATOL
JI J. Perinatol.
PD SEP
PY 2014
VL 34
IS 9
BP 688
EP 692
DI 10.1038/jp.2014.80
PG 5
WC Obstetrics & Gynecology; Pediatrics
SC Obstetrics & Gynecology; Pediatrics
GA AO5RS
UT WOS:000341403600009
PM 24811227
ER
PT J
AU Daly, MB
Pilarski, R
Axilbund, JE
Buys, SS
Crawford, B
Friedman, S
Garber, JE
Horton, C
Kaklamani, V
Klein, C
Kohlmann, W
Kurian, A
Litton, J
Madlensky, L
Marcom, PK
Merajver, SD
Offit, K
Pal, T
Pasche, B
Reiser, G
Shannon, KM
Swisher, E
Voian, NC
Weitzel, JN
Whelan, A
Wiesner, GL
Dwyer, MA
Kumar, R
AF Daly, Mary B.
Pilarski, Robert
Axilbund, Jennifer E.
Buys, Saundra S.
Crawford, Beth
Friedman, Susan
Garber, Judy E.
Horton, Carolyn
Kaklamani, Virginia
Klein, Catherine
Kohlmann, Wendy
Kurian, Allison
Litton, Jennifer
Madlensky, Lisa
Marcom, P. Kelly
Merajver, Sofia D.
Offit, Kenneth
Pal, Tuya
Pasche, Boris
Reiser, Gwen
Shannon, Kristen Mahoney
Swisher, Elizabeth
Voian, Nicoleta C.
Weitzel, Jeffrey N.
Whelan, Alison
Wiesner, Georgia L.
Dwyer, Mary A.
Kumar, Rashmi
TI Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version
1.2014
SO JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK
LA English
DT Article
ID HAMARTOMA-TUMOR-SYNDROME; RILEY-RUVALCABA-SYNDROME; REVISED
DIAGNOSTIC-CRITERIA; AUTISM SPECTRUM DISORDERS; LHERMITTE-DUCLOS
DISEASE; GERMLINE PTEN MUTATIONS; SYNDROME PLEASE STAND;
COWDEN-SYNDROME; CANCER; GENE
AB During the past few years, several genetic aberrations that may contribute to increased risks for development of breast and/or ovarian cancers have been identified. The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian focus specifically on the assessment of genetic mutations in BRCA1/BRCA2, TP53, and PTEN, and recommend approaches to genetic testing/counseling and management strategies in individuals with these mutations. This portion of the NCCN Guidelines includes recommendations regarding diagnostic criteria and management of patients with Cowden Syndrome/PTEN hamartoma tumor syndrome.
C1 [Daly, Mary B.] Fox Chase Canc Ctr, Philadelphia, PA 19111 USA.
[Pilarski, Robert] Ohio State Univ, Ctr Comprehens Canc, James Canc Hosp, Columbus, OH 43210 USA.
[Pilarski, Robert] Ohio State Univ, Solove Res Inst, Columbus, OH 43210 USA.
[Axilbund, Jennifer E.] Sidney Kimmel Comprehens Canc Ctr Johns Hopkins, Sidney, BC, Canada.
[Buys, Saundra S.] Univ Utah, Huntsman Canc Inst, Salt Lake City, UT 84112 USA.
[Crawford, Beth] Univ Calif San Francisco, Helen Diller Family Comprehens Canc Ctr, San Francisco, CA USA.
[Garber, Judy E.] Dana Farber Brigham & Womens Canc Ctr, Boston, MA USA.
[Horton, Carolyn] Univ Tennessee, Hlth Sci Ctr, St Jude Childrens Res Hosp, Knoxville, TN 37996 USA.
[Kaklamani, Virginia] Northwestern Univ, Robert H Lurie Comprehens Canc Ctr, Evanston, IL 60208 USA.
[Klein, Catherine] Univ Colorado, Ctr Canc, Boulder, CO 80309 USA.
[Kohlmann, Wendy] Univ Utah, Huntsman Canc Inst, Salt Lake City, UT 84112 USA.
[Kurian, Allison] Stanford Canc Inst, Stanford, CA USA.
[Litton, Jennifer] Univ Texas MD Anderson Canc Ctr, Houston, TX USA.
[Madlensky, Lisa] Univ Calif San Diego, Moores Canc Ctr, La Jolla, CA USA.
[Marcom, P. Kelly] Duke Canc Inst, Durham, NC USA.
[Merajver, Sofia D.] Univ Michigan, Ctr Comprehens Canc, Ann Arbor, MI 48109 USA.
[Offit, Kenneth] Mem Sloan Kettering Canc Ctr, New York, NY USA.
[Pal, Tuya] H Lee Moffitt Canc Ctr & Res Inst, Tampa, FL USA.
[Pasche, Boris] Univ Alabama Birmingham, Ctr Comprehens Canc, Birmingham, AL USA.
[Reiser, Gwen] Nebraska Med Ctr, Fred & Pamela Buffett Canc Ctr, Omaha, NE USA.
[Shannon, Kristen Mahoney] Massachusetts Gen Hosp, Ctr Canc, Boston, MA 02114 USA.
[Swisher, Elizabeth] Univ Washington, Seattle Canc Care Alliance, Seattle, WA 98195 USA.
[Voian, Nicoleta C.] Roswell Pk Canc Inst, Buffalo, NY USA.
[Weitzel, Jeffrey N.] City Hope Comprehens Canc Ctr, Duarte, CA USA.
[Whelan, Alison] Barnes Jewish Hosp, Siteman Canc Ctr, St Louis, MO USA.
[Whelan, Alison] Washington Univ, Sch Med, St Louis, MO 63130 USA.
[Wiesner, Georgia L.] Vanderbilt Ingram Canc Ctr, Nashville, TN USA.
RP Daly, MB (reprint author), Fox Chase Canc Ctr, Philadelphia, PA 19111 USA.
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NR 46
TC 5
Z9 5
PU HARBORSIDE PRESS
PI COLD SPRING HARBOR
PA 37 MAIN ST, COLD SPRING HARBOR, NY 11724 USA
SN 1540-1405
EI 1540-1413
J9 J NATL COMPR CANC NE
JI J. Natl. Compr. Cancer Netw.
PD SEP
PY 2014
VL 12
IS 9
BP 1326
EP 1338
PG 13
WC Oncology
SC Oncology
GA AO4ZM
UT WOS:000341349900011
PM 25190698
ER
PT J
AU Lewis, S
AF Lewis, Sian
TI Brain-gut connection in autism? (vol 15, pg 564, 2014)
SO NATURE REVIEWS NEUROSCIENCE
LA English
DT Correction
CR LEWIS S, 2014, NATURE REVIEWS NEURO, V15, P564, DOI DOI 10.1038/NRN3806
NR 1
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1471-003X
EI 1471-0048
J9 NAT REV NEUROSCI
JI Nat. Rev. Neurosci.
PD SEP
PY 2014
VL 15
IS 9
BP 565
EP 565
DI 10.1038/nrn3807
PG 1
WC Neurosciences
SC Neurosciences & Neurology
GA AO4RR
UT WOS:000341329600004
ER
PT J
AU van Elst, K
Bruining, H
Birtoli, B
Terreaux, C
Buitelaar, JK
Kas, MJ
AF van Elst, Kim
Bruining, Hilgo
Birtoli, Barbara
Terreaux, Christian
Buitelaar, Jan K.
Kas, Martien J.
TI Food for thought: Dietary changes in essential fatty acid ratios and the
increase in autism spectrum disorders
SO NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
LA English
DT Review
DE AA; Autism spectrum disorders; Brain deficiency; Development; DHA; Diet;
Docosahexaenoic acid; Humans; Mice; Omega-3; Omega-6; Polyunsaturated
fatty acids; PUFA
ID ALPHA-LINOLENIC ACID; PROLIFERATOR-ACTIVATED RECEPTORS; RANDOMIZED
CONTROLLED-TRIAL; BRAIN DOCOSAHEXAENOIC ACID; LIPID OXIDATION-PRODUCTS;
FISH-OIL SUPPLEMENTATION; CENTRAL-NERVOUS-SYSTEM; ARACHIDONIC-ACID;
PPAR-ALPHA; IN-VIVO
AB The last decades have shown a spectacular and partially unexplained rise in the prevalence of autism spectrum disorders (ASD). This rise in ASD seems to parallel changes in the dietary composition of fatty acids. This change is marked by the replacement of cholesterol by omega-6 (n-6) fatty acids in many of our food products, resulting in a drastically increased ratio of omega-6/omega-3 (n-6/n-3). In this context, we review the available knowledge on the putative role of fatty acids in neurodevelopment and describe how disturbances in n-6/n-3 ratios may contribute to the emergence of ASDs. Both clinical and experimental research is discussed. We argue that a change in the ratio of n-6/n-3, especially during early life, may induce developmental changes in brain connectivity, synaptogenesis, cognition and behavior that are directly related to ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [van Elst, Kim; Bruining, Hilgo; Kas, Martien J.] Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Dept Translat Neurosci, NL-3584 CG Utrecht, Netherlands.
[Bruining, Hilgo] Univ Med Ctr Utrecht, Dept Psychiat, Brain Ctr Rudolf Magnus, NL-3584 CG Utrecht, Netherlands.
[Birtoli, Barbara; Terreaux, Christian] Vifor Pharma, Glattbrugg, Switzerland.
[Buitelaar, Jan K.] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Cognit Neurosci, NL-6525 ED Nijmegen, Netherlands.
RP Kas, MJ (reprint author), Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Dept Translat Neurosci, Univ Weg 100, NL-3584 CG Utrecht, Netherlands.
EM m.j.h.kas@umcutrecht.nl
FU Innovative Medicines Initiative Joint Undertaking [115300]; European
Union's Seventh Framework Program (FP7); Autism Speaks
FX The research of EU-AIMS receives support from the Innovative Medicines
Initiative Joint Undertaking under grant agreement no 115300, resources
of which are composed of financial contribution from the European
Union's Seventh Framework Program (FP7/2007-2013), from the EFPIA
companies in kind contribution and from Autism Speaks.
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NR 174
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0149-7634
EI 1873-7528
J9 NEUROSCI BIOBEHAV R
JI Neurosci. Biobehav. Rev.
PD SEP
PY 2014
VL 45
BP 369
EP 378
DI 10.1016/j.neubiorev.2014.07.004
PG 10
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AO6MQ
UT WOS:000341466600028
PM 25025657
ER
PT J
AU Gipson, TT
Gerner, G
Srivastava, S
Poretti, A
Vaurio, R
Hartman, A
Johnston, MV
AF Gipson, Tanjala T.
Gerner, Gwendolyn
Srivastava, Siddharth
Poretti, Andrea
Vaurio, Rebecca
Hartman, Adam
Johnston, Michael V.
TI Early Neurodevelopmental Screening in Tuberous Sclerosis Complex: A
Potential Window of Opportunity
SO PEDIATRIC NEUROLOGY
LA English
DT Article
DE development; tuberous sclerosis; vigabatrin; everolimus; sirolimus;
cognition; Capute Scales; mTOR inhibitors
ID INFANTILE SPASMS; EPILEPSY; ONSET; COUNT; RECOMMENDATIONS; POPULATION;
SEVERITY
AB BACKGROUND: Infants born with tuberous sclerosis complex, a genetic condition resulting from a mutation in TSC1 or TSC2, are at increased risk for intellectual disability and/or autism. Features of epilepsy, neuropathology, genetics, as well as timing and type of mechanism-based medications have been proposed as risk factors. Neurodevelopmental outcomes have been reported among these studies; however, few include data about the individuals' early neurodevelopmental profile, a factor that may contribute significantly to these outcomes. Further, there is no clinical standard for the neurodevelopmental assessment of these infants. The paucity of data regarding the natural history of neurodevelopment in infants with tuberous sclerosis complex and the lack of a gold standard for neurodevelopmental evaluation present a significant challenge for clinicians and researchers. METHOD: During the first year of life, we tracked the onset of infantile spasms, the type and timing of antiepileptic treatments, and the associated response of two age-matched infants with tuberous sclerosis complex. We also employed Capute Scales as a part of a structured neurodevelopmental evaluation to characterize and compare their neurodevelopmental profiles. RESULTS: Infant 1 developed infantile spasms with confirmed hypsarrhythmia at 4 months of age. Treatment with vigabatrin was initiated within 24 hours with near immediate cessation of seizures and no further seizures to date. Expressive language delay was detected at 12 months and treated with speech and/or language therapy. Infant 2 developed complex partial seizures at 1 month. Treatment included levetiracetam, oxcarbazepine, and the ketogenic diet. Vigabatrin was initiated on detection of hypsarrhythmia after 4 months. Intractable epilepsy persists to date. Global developmental delay was evident by 8 months and treated with physical, occupational, and speech and/or language therapy. CONCLUSION: Many risk factors have been associated with intellectual disability and/or autism in individuals with tuberous sclerosis complex; however, few data are available regarding practical clinical tools for early identification. In our case series, inclusion of the Capute Scales as a part of routine medical care led to the identification of developmental delays in the first 12 months of life and selection of targeted neurodevelopmental interventions. Development of a risk-based assessment using this approach will be the focus of future studies as it may provide a potential window of opportunity for both research and clinical purposes. In research, it may serve as an objective outcome measure. Clinically, this type of assessment has potential for informing clinical treatment decisions and serving as a prognostic indicator of long-term cognitive and psychiatric outcomes.
C1 [Gipson, Tanjala T.; Gerner, Gwendolyn; Johnston, Michael V.] Kennedy Krieger Inst, Tuberous Sclerosis Clin, Baltimore, MD 21205 USA.
[Gipson, Tanjala T.; Gerner, Gwendolyn; Srivastava, Siddharth; Johnston, Michael V.] Kennedy Krieger Inst, Dept Neurol & Dev Med, Baltimore, MD 21205 USA.
[Gipson, Tanjala T.; Gerner, Gwendolyn; Johnston, Michael V.] Kennedy Krieger Inst, Clin Trials Unit, Hugo W Moser Res Inst Inc, Baltimore, MD 21205 USA.
[Gipson, Tanjala T.; Johnston, Michael V.] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA.
[Johnston, Michael V.] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA.
[Johnston, Michael V.] Johns Hopkins Univ, Sch Med, Dept Phys Med & Rehabil, Baltimore, MD USA.
[Poretti, Andrea] Johns Hopkins Univ, Sch Med, Russell H Morgan Dept Radiol & Radiol Sci, Sect Pediat Neuroradiol,Div Pediat Radiol, Baltimore, MD USA.
[Vaurio, Rebecca] Kennedy Krieger Inst, Dept Neuropsychol, Baltimore, MD 21205 USA.
[Vaurio, Rebecca] Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA.
[Hartman, Adam] Johns Hopkins Univ, Sch Med, Dept Neurol, John M Freeman Pediat Epilepsy Ctr, Baltimore, MD 21205 USA.
RP Gipson, TT (reprint author), Kennedy Krieger Inst, Dept Neurol & Dev Med, 707 N Broadway, Baltimore, MD 21205 USA.
EM tsclinic@kennedykrieger.org
FU National Institute of Neurological Disorders and Stroke
[2K12NS001696-11A1]; National Institute of Child Health and Human
Development [5T32HD007414-18]; Novartis Pharmaceuticals; Novartis
FX T.T.G. received grant 2K12NS001696-11A1 from the National Institute of
Neurological Disorders and Stroke and G.G. received grant
5T32HD007414-18 from the National Institute of Child Health and Human
Development. T.T.G. and M.V.J. are participating as investigators in a
clinical trial of everolimus developed and sponsored by Novartis
Pharmaceuticals. Funds are provided to Kennedy Krieger Institute by
Novartis for research costs associated with this trial.
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NR 24
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0887-8994
EI 1873-5150
J9 PEDIATR NEUROL
JI Pediatr. Neurol.
PD SEP
PY 2014
VL 51
IS 3
BP 398
EP 402
DI 10.1016/j.pediatrneurol.2014.04.028
PG 5
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AO4TT
UT WOS:000341335000018
PM 25160545
ER
PT J
AU Moeschler, JB
Shevell, M
AF Moeschler, John B.
Shevell, Michael
TI Comprehensive Evaluation of the Child With Intellectual Disability or
Global Developmental Delays
SO PEDIATRICS
LA English
DT Article
ID COMPARATIVE GENOMIC HYBRIDIZATION; LINKED MENTAL-RETARDATION; COPY
NUMBER VARIANTS; MAGNETIC-RESONANCE SPECTROSCOPY;
QUALITY-STANDARDS-SUBCOMMITTEE; AUTISM SPECTRUM DISORDERS; CHROMOSOMAL
MICROARRAY; MECP2 MUTATIONS; DYSMORPHIC FEATURES; PRACTICE-COMMITTEE
AB Global developmental delay and intellectual disability are relatively common pediatric conditions. This report describes the recommended clinical genetics diagnostic approach. The report is based on a review of published reports, most consisting of medium to large case series of diagnostic tests used, and the proportion of those that led to a diagnosis in such patients. Chromosome microarray is designated as a first-line test and replaces the standard karyotype and fluorescent in situ hybridization subtelomere tests for the child with intellectual disability of unknown etiology. Fragile X testing remains an important first-line test. The importance of considering testing for inborn errors of metabolism in this population is supported by a recent systematic review of the literature and several case series recently published. The role of brain MRI remains important in certain patients. There is also a discussion of the emerging literature on the use of whole-exome sequencing as a diagnostic test in this population. Finally, the importance of intentional comanagement among families, the medical home, and the clinical genetics specialty clinic is discussed.
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NR 91
TC 3
Z9 3
PU AMER ACAD PEDIATRICS
PI ELK GROVE VILLAGE
PA 141 NORTH-WEST POINT BLVD,, ELK GROVE VILLAGE, IL 60007-1098 USA
SN 0031-4005
EI 1098-4275
J9 PEDIATRICS
JI Pediatrics
PD SEP
PY 2014
VL 134
IS 3
BP E903
EP E918
DI 10.1542/peds.2014-1839
PG 16
WC Pediatrics
SC Pediatrics
GA AO5DN
UT WOS:000341362600037
PM 25157020
ER
PT J
AU McIntosh, LG
Park, S
AF McIntosh, Lindsey G.
Park, Sohee
TI Social trait judgment and affect recognition from static faces and video
vignettes in schizophrenia
SO SCHIZOPHRENIA RESEARCH
LA English
DT Article
DE Affect recognition; Social judgment; Social cognition; Nonverbal
behavior; Thin slices
ID THIN SLICES; SPECTRUM DISORDERS; NONVERBAL BEHAVIOR; PERCEPTION;
COGNITION; AUTISM; INFORMATION; PSYCHOSIS; BRAIN; SCALE
AB Social impairment is a core feature of schizophrenia, present from the pre-morbid stage and predictive of outcome, but the etiology of this deficit remains poorly understood. Successful and adaptive social interactions depend on one's ability to make rapid and accurate judgments about others in real time. Our surprising ability to form accurate first impressions from brief exposures, known as "thin slices" of behavior has been studied very extensively in healthy participants. We sought to examine affect and social trait judgment from thin slices of static or video stimuli in order to investigate the ability of schizophrenic individuals to form reliable social impressions of others. 21 individuals with schizophrenia (SZ) and 20 matched healthy participants (HC) were asked to identify emotions and social traits for actors in standardized face stimuli as well as brief video clips. Sound was removed from videos to remove all verbal cues. Clinical symptoms in SZ and delusional ideation in both groups were measured. Results showed a general impairment in affect recognition for both types of stimuli in SZ. However, the two groups did not differ in the judgments of trustworthiness, approachability, attractiveness, and intelligence. Interestingly, in SZ, the severity of positive symptoms was correlated with higher ratings of attractiveness, trustworthiness, and approachability. Finally, increased delusional ideation in SZwas associated with a tendency to rate others as more trustworthy, while the opposite was true for HC. These findings suggest that complex social judgments in SZ are affected by symptomatology. (C) 2014 Elsevier B.V. All rights reserved.
C1 [McIntosh, Lindsey G.; Park, Sohee] Vanderbilt Univ, Dept Psychol, Nashville, TN 37240 USA.
[Park, Sohee] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37240 USA.
RP Park, S (reprint author), Vanderbilt Univ, Dept Psychol, 111 21st Ave South,301 Wilson Hall, Nashville, TN 37240 USA.
EM sohee.park@vanderbilt.edu
FU NIMH [R01MH073028]; NICHD [P30HD15052]
FX This work was supported in part by NIMH R01MH073028 and NICHD P30HD15052
to Vanderbilt University. The content is solely the responsibility of
the authors and does not necessarily represent the official views of the
NIMH or the National Institutes of Health.
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NR 58
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0920-9964
EI 1573-2509
J9 SCHIZOPHR RES
JI Schizophr. Res.
PD SEP
PY 2014
VL 158
IS 1-3
BP 170
EP 175
DI 10.1016/j.schres.2014.06.026
PG 6
WC Psychiatry
SC Psychiatry
GA AO4MW
UT WOS:000341314800028
PM 25037526
ER
PT J
AU Merikangas, AK
Segurado, R
Cormican, P
Heron, EA
Anney, RJL
Moore, S
Kelleher, E
Hargreaves, A
Anderson-Schmidt, H
Gill, M
Gallagher, L
Corvin, A
AF Merikangas, Alison K.
Segurado, Ricardo
Cormican, Paul
Heron, Elizabeth A.
Anney, Richard J. L.
Moore, Susan
Kelleher, Eric
Hargreaves, April
Anderson-Schmidt, Heike
Gill, Michael
Gallagher, Louise
Corvin, Aiden
TI The phenotypic manifestations of rare CNVs in schizophrenia
SO SCHIZOPHRENIA RESEARCH
LA English
DT Article
DE Schizophrenia; CNV; Copy number variation; Paternal age; Family history;
Phenotype
ID COPY NUMBER VARIATION; AUTISM SPECTRUM DISORDERS; DOMAIN CRITERIA RDOC;
PATERNAL-AGE; BIPOLAR DISORDER; RISK-FACTOR; GENES; POPULATION;
MUTATIONS; MICRODELETIONS
AB There is compelling evidence for the role of copy number variants (CNVs) in schizophrenia susceptibility, and it has been estimated that up to 2-3% of schizophrenia cases may carry rare CNVs. Despite evidence that these events are associated with an increased risk across categorical neurodevelopmental disorders, there is limited understanding of the impact of CNVs on the core features of disorders like schizophrenia. Our objective was to evaluate associations between rare CNVs in differentially brain expressed (BE) genes and the core features and clinical correlates of schizophrenia. The sample included 386 cases of Irish ancestry with a diagnosis of schizophrenia, at least one rare CNV impacting any gene, and a core set of phenotypicmeasures. Statistically significant associations between deletions in differentially BE genes were found for family history of mental illness (decreased prevalence of all CNVs and deletions, unadjusted and adjusted) and for paternal age (increase in deletions only, unadjusted, among those with later ages at birth of patient). The strong effect of a lack of a family history on BE genes suggests that CNVs may comprise one pathway to schizophrenia, whereas a positive family history could index other geneticmechanisms that increase schizophrenia vulnerability. To our knowledge, this is the first investigation of the association between genome-wide CNVs and risk factors and sub-phenotypic features of schizophrenia beyond cognitive function. (C) 2014 Elsevier B. V. All rights reserved.
C1 [Merikangas, Alison K.; Cormican, Paul; Heron, Elizabeth A.; Anney, Richard J. L.; Moore, Susan; Kelleher, Eric; Hargreaves, April; Gill, Michael; Gallagher, Louise; Corvin, Aiden] Univ Dublin Trinity Coll, Dept Psychiat, Inst Mol Med, Dublin 2, Ireland.
[Merikangas, Alison K.; Cormican, Paul; Heron, Elizabeth A.; Anney, Richard J. L.; Moore, Susan; Kelleher, Eric; Hargreaves, April; Gill, Michael; Gallagher, Louise; Corvin, Aiden] Univ Dublin Trinity Coll, Neuropsychiat Genet Res Grp, Inst Mol Med, Dublin 2, Ireland.
[Segurado, Ricardo] Univ Coll Dublin, Ctr Support & Training Anal & Res, Dublin 4, Ireland.
[Anderson-Schmidt, Heike] Univ Gottingen, Dept Psychiat & Psychotherapy, Univ Med Ctr, D-37073 Gottingen, Germany.
RP Merikangas, AK (reprint author), Univ Dublin Trinity Coll, Dept Psychiat, Trinity Ctr Hlth Sci, St James Hosp, James St, Dublin 8, Ireland.
EM merikana@tcd.ie
FU Irish Research Council; Wellcome Trust [072894/Z/03/Z, 090532/Z/09/Z,
075491/Z/04/B]; Wellcome Trust Case Control Consortium 2 project
[085475/B/08/Z, 085475/Z/08/Z]; Science Foundation Ireland
[08/IN.1/B1916]; National Institute of Mental Health [MH 41953,
MH083094]; Meath Foundation (Ireland)
FX Funding for this study was provided by the Irish Research Council, the
Wellcome Trust, (072894/Z/03/Z, 090532/Z/09/Z and 075491/Z/04/B) and
Wellcome Trust Case Control Consortium 2 project (085475/B/08/Z and
085475/Z/08/Z) Science Foundation Ireland (08/IN.1/B1916), the National
Institute of Mental Health (MH 41953 and MH083094) and the Meath
Foundation (Ireland).
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NR 63
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0920-9964
EI 1573-2509
J9 SCHIZOPHR RES
JI Schizophr. Res.
PD SEP
PY 2014
VL 158
IS 1-3
BP 255
EP 260
DI 10.1016/j.schres.2014.06.016
PG 6
WC Psychiatry
SC Psychiatry
GA AO4MW
UT WOS:000341314800040
PM 24999052
ER
PT J
AU Ross, CA
AF Ross, Colin A.
TI Problems with autism, catatonia and schizophrenia in DSM-5
SO SCHIZOPHRENIA RESEARCH
LA English
DT Letter
ID PSYCHOTIC DISORDERS
C1 Colin A Ross Inst Psychol Trauma, Richardson, TX 75080 USA.
RP Ross, CA (reprint author), Colin A Ross Inst Psychol Trauma, 1701 Gateway,349, Richardson, TX 75080 USA.
EM rossinst@rossinst.com
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Tsuang MT, 2013, SCHIZOPHR RES, V150, P31, DOI 10.1016/j.schres.2013.05.004
NR 7
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0920-9964
EI 1573-2509
J9 SCHIZOPHR RES
JI Schizophr. Res.
PD SEP
PY 2014
VL 158
IS 1-3
BP 264
EP 265
DI 10.1016/j.schres.2014.06.017
PG 2
WC Psychiatry
SC Psychiatry
GA AO4MW
UT WOS:000341314800042
PM 24999051
ER
PT J
AU Fatemi, SH
Folsom, TD
AF Fatemi, S. Hossein
Folsom, Timothy D.
TI Existence of monomer and dimer forms of mGluR5, under reducing
conditions in studies of postmortem brain in various psychiatric
disorders
SO SCHIZOPHRENIA RESEARCH
LA English
DT Letter
ID GLUTAMATE-RECEPTOR 5; MENTAL-RETARDATION PROTEIN; SCHIZOPHRENIA;
EXPRESSION; DIMERIZATION; AUTISM
C1 [Fatemi, S. Hossein; Folsom, Timothy D.] Univ Minnesota, Div Neurosci Res, Dept Psychiat, Sch Med, Minneapolis, MN 55455 USA.
[Fatemi, S. Hossein] Univ Minnesota, Sch Med, Dept Neurosci, Minneapolis, MN 55455 USA.
RP Fatemi, SH (reprint author), Univ Minnesota, Dept Psychiat, 420 Delaware St SE,MMC 392, Minneapolis, MN 55455 USA.
EM fatem002@umn.edu
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NR 10
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0920-9964
EI 1573-2509
J9 SCHIZOPHR RES
JI Schizophr. Res.
PD SEP
PY 2014
VL 158
IS 1-3
BP 270
EP 271
DI 10.1016/j.schres.2014.06.029
PG 2
WC Psychiatry
SC Psychiatry
GA AO4MW
UT WOS:000341314800045
PM 25043265
ER
PT J
AU Richdale, AL
Baker, E
Short, M
Gradisar, M
AF Richdale, Amanda L.
Baker, Emma
Short, Michelle
Gradisar, Michael
TI The role of insomnia, pre-sleep arousal and psychopathology symptoms in
daytime impairment in adolescents with high-functioning autism spectrum
disorder
SO SLEEP MEDICINE
LA English
DT Article
DE Autism; Insomnia; Daytime functioning; Anxiety; Arousal; Depression;
Adolescence
ID ANXIETY DISORDERS; CHILDREN; DISTURBANCES; DEPRESSION; REDUCTION; PARENT
AB Objectives: Sleep disturbance and psychopathology are common during adolescence and are highly prevalent in individuals diagnosed with autism spectrum disorder (ASD). The aim of this study was to investigate relationships between sleep disturbance, psychopathology symptoms, and daytime functioning in adolescents with high-functioning autism spectrum disorder (HFASD) compared to typically developing (TD) adolescents.
Methods: Twenty-seven adolescents with HFASD and 27 age- and sex-matched TD adolescents completed questionnaires related to sleep, psychopathology and daytime functioning. Participants also completed a 7-day sleep/wake diary. A subsample of HFASD adolescents (55%) and all the TD adolescents wore an actigraphy monitor concurrently with the sleep diary.
Results: Adolescents with HFASD had significantly higher scores for depressed mood, anxiety and pre-sleep arousal compared with TD adolescents and poorer daytime functioning. There were more significant correlations between sleep variables and psychopathology variables, and sleep variables and daytime functioning, in the HFASD group than in the TD group. Standard regression found that sleep variables significantly accounted for 57% of the variance in daytime functioning symptoms of insufficient sleep in the HFASD group, while psychopathology variables accounted for 63% of the variance in daytime functioning.
Conclusions: Both sleep disturbance and psychopathology are more prevalent in adolescents with HFASD and are major contributors to poor daytime functioning in these individuals. (C) 2014 Published by Elsevier B.V.
C1 [Richdale, Amanda L.; Baker, Emma] La Trobe Univ, Olga Tennison Autism Res Ctr, Sch Psychol Sci, Melbourne, Vic, Australia.
[Short, Michelle] Univ S Australia, Ctr Sleep Res, Adelaide, SA 5001, Australia.
[Gradisar, Michael] Flinders Univ S Australia, Sch Psychol, Adelaide, SA 5001, Australia.
RP Richdale, AL (reprint author), La Trobe Univ, Olga Tennison Autism Res Ctr, Sch Psychol Sci, Kingsbury Dr, Bundoora, Vic 3086, Australia.
EM a.richdale@latrobe.edu.au
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NR 41
TC 2
Z9 2
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 1389-9457
EI 1878-5506
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JI Sleep Med.
PD SEP
PY 2014
VL 15
IS 9
BP 1082
EP 1088
DI 10.1016/j.sleep.2014.05.005
PG 7
WC Clinical Neurology
SC Neurosciences & Neurology
GA AO6TA
UT WOS:000341483200013
PM 24974199
ER
PT J
AU Angell, AM
Solomon, O
AF Angell, Amber M.
Solomon, Olga
TI The social life of health records: Understanding families' experiences
of autism
SO SOCIAL SCIENCE & MEDICINE
LA English
DT Article
DE USA; African American; Autism; Family perspectives; Health record;
Health disparities; Healthcare disparities; Meaningful use
ID SPECTRUM DISORDERS; DIAGNOSIS; CHILDREN; CARE; CALIFORNIA; CAPITATION;
AGE
AB Outside of the epidemiological surveillance studies of autism prevalence, health records of children diagnosed with autism have not been sufficiently examined, yet they provide an important lens for showing how autism diagnosis, services and interventions are negotiated, coordinated and choreographed by families and practitioners across multiple settings. This article provides a multifaceted understanding of these processes from an ethnographic and discourse analytic perspective that reveals structural and interactional phenomena contributing to disparities in autism diagnosis and services. We consider health records as dualistic, material-discursive artifacts that are socio-interactionally co-constructed and variably interpreted, contested and utilized across home, school and clinic contexts. We chronicle several families' experiences of their children's autism diagnoses and interventions and describe ways in which health records are socially constructed, curated and placed in the middle of clinical encounters. We show how the parents in our study draw upon health records' material-discursive properties to display epistemic authority, expertise and knowledge in interactions with healthcare and school professionals involved in authorizing and planning their children's care. We describe how the parents experience the health records' clinical portrayals of their children and themselves, and how the parents' portrayals of their children are tacitly ratified or negated in the health records. The data include health record reviews, narrative interviews with parents and practitioners, and clinical observations. These data were collected between October 2009 and August 2012 as part of a larger study on disparities in autism diagnosis, interventions and services experienced by African American children with autism and their families living in Los Angeles County, California. Our analysis reveals the central role of health records in maintaining continuity of an autism diagnosis, interventions and services. This article contributes to enhanced professional awareness, parent-professional partnerships, and equity in the provision of healthcare and human services related to autism. (C) 2014 The Authors. Published by Elsevier Ltd.
C1 [Angell, Amber M.; Solomon, Olga] Univ So Calif, Div Occupat Sci & Occupat Therapy, Los Angeles, CA 90089 USA.
RP Angell, AM (reprint author), Univ So Calif, Div Occupat Sci & Occupat Therapy, Los Angeles, CA 90089 USA.
EM aangell@usc.edu; olga.solomon@usc.edu
FU grant Autism in Urban Context: Linking Heterogeneity with Health and
Service Disparities (NIH/NIMH) [R01 MH089474]; Division of Occupational
Science and Occupational Therapy at the USC Herman Ostrow School of
Dentistry
FX We are deeply grateful to the children and their families who
participated in this study. This study was supported by a grant Autism
in Urban Context: Linking Heterogeneity with Health and Service
Disparities (NIH/NIMH, R01 MH089474, 2009-2012, O. Solomon, P.I.). The
content of this article is solely the responsibility of the authors and
does not necessarily represent the official views of the National
Institute of Mental Health or the National Institutes of Health. We
thank the members of the Autism in Urban Context research team: Mary
Lawlor, ScD, Sharon Cermak, EdD, Marie Poulsen, PhD, Thomas Valente,
PhD, Marian Williams, PhD, and Larry Yin, MD; and post-doctoral
researchers Kimberly Wilkinson, PhD and Tessa Milman, OTD. We also
gratefully acknowledge the support of the Division of Occupational
Science and Occupational Therapy at the USC Herman Ostrow School of
Dentistry.
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NR 45
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0277-9536
J9 SOC SCI MED
JI Soc. Sci. Med.
PD SEP
PY 2014
VL 117
BP 50
EP 57
DI 10.1016/j.socscimed.2014.07.020
PG 8
WC Public, Environmental & Occupational Health; Social Sciences, Biomedical
SC Public, Environmental & Occupational Health; Biomedical Social Sciences
GA AO6SF
UT WOS:000341481100007
PM 25042544
ER
PT J
AU Fahnehjelm, KT
Dahl, S
Martin, L
Ek, U
AF Fahnehjelm, Kristina Tear
Dahl, Sara
Martin, Lene
Ek, Ulla
TI Optic nerve hypoplasia in children and adolescents; prevalence, ocular
characteristics and behavioural problems
SO ACTA OPHTHALMOLOGICA
LA English
DT Article
DE behaviour disc; area optic nerve hypoplasia; prevalence
ID DOUBLING TECHNOLOGY PERIMETRY; VISUAL IMPAIRMENT; SWEDISH CHILDREN;
RISK-FACTORS; SYSTEM ABNORMALITIES; YOUNG-CHILDREN; DYSPLASIA; SPECTRUM;
RAREBIT; REAPPRAISAL
AB Purpose: To report prevalence, ocular characteristics and coexisting behavioural problems in children and adolescents with optic nerve hypoplasia (ONH), which is a common cause of visual impairment in children in western countries, often associated with neurological or endocrinological problems and where autism has been reported in severe cases with blindness.
Methods: This is a population-based cross-sectional study of patients <20 years of age who had been diagnosed with NH and lived in the county of Stockholm in December 2009. Ophthalmological assessments including fundus photographs with optic disc analyses were made. A questionnaire was used to screen for behaviour and development.
Results: The prevalence of ONH in all living children <18 years of age in Stockholm was 17.3/100 000 with a prevalence of visual impairment (<0.3) of 3.9/100 000. In total, 66 patients, median age 9.3 years (0.6-19.4), 36 with bilateral and 30 with unilateral ONH, were included in the current study; 53 were re-examined clinically, group A, and 13 agreed to retrospective analyses of existing medical records, group B. Analyses of the optic discs were made in fundus photographs from 53 patients comparing a semi-automated (Retinal Size Tool) and a manual method (Zeki). There was a strong curvilinear correlation (r(S) = 0.91 p < 0.0001 for both eyes). Behavioural problems were more common (p < 0.05) in bilateral ONII.
Conclusion: Optic nerve hypoplasia is a common ocular malformation with a prevalence of 17.3/100 000 children and adolescents <18 years of age in Stockholm. Unilateral ONH seems as common as bilateral.
C1 [Fahnehjelm, Kristina Tear] Karolinska Univ Hosp, Dept Clin Neurosci, Karolinska Inst, Stockholm, Sweden.
[Fahnehjelm, Kristina Tear] Karolinska Univ Hosp, St Erik Eye Hosp, Dept Paediat Ophthalmol & Strabismus, Stockholm, Sweden.
[Dahl, Sara] Karolinska Univ Hosp, Dept Paediat, Stockholm, Sweden.
[Martin, Lene] Malardalen Univ, Sch Hlth Care & Social Welf, Eskilstuna, Sweden.
[Ek, Ulla] Stockholm Univ, Dept Special Educ, S-10691 Stockholm, Sweden.
RP Fahnehjelm, KT (reprint author), Karolinska Univ Hosp, Dept Clin Neuroscienc, Karolinska Inst, Stockholm, Sweden.
EM kristina.tear-fahnehjelm@sankterik.se
FU Sigvard och Marianne Bernadotte Foundation; Signhild Engkvist
Foundation; Samariten Foundation
FX This project has been supported by the Sigvard och Marianne Bernadotte
Foundation, the Signhild Engkvist Foundation and the Samariten
Foundation.
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NR 50
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1755-375X
EI 1755-3768
J9 ACTA OPHTHALMOL
JI Acta Ophthalmol.
PD SEP
PY 2014
VL 92
IS 6
BP 563
EP 570
DI 10.1111/aos.12270
PG 8
WC Ophthalmology
SC Ophthalmology
GA AN4VD
UT WOS:000340585800033
ER
PT J
AU Leivonen, S
Voutilainen, A
Hinkka-Yli-Salomaki, S
Timonen-Soivio, L
Chudal, R
Gissler, M
Huttunen, J
Sourander, A
AF Leivonen, Susanna
Voutilainen, Arja
Hinkka-Yli-Salomaki, Susanna
Timonen-Soivio, Laura
Chudal, Roshan
Gissler, Mika
Huttunen, Jukka
Sourander, Andre
TI A nationwide register study of the characteristics, incidence and
validity of diagnosed Tourette syndrome and other tic disorders
SO ACTA PAEDIATRICA
LA English
DT Article
DE Incidence; Register-based study; Tic disorder; Tourette's syndrome;
Validation
ID AUTISM SPECTRUM DISORDERS; PERVASIVE DEVELOPMENTAL DISORDERS;
NEURODEVELOPMENTAL DISORDERS; SEVERITY-SCALE; BIRTH COHORT;
RISK-FACTORS; SCHIZOPHRENIA; EPIDEMIOLOGY; PREVALENCE; AGE
AB Aim: The aim of this study was to describe the characteristics and incidence rates of diagnosed tic disorders in the Finnish Hospital Discharge Register, including changing incidence rates between 1991 and 2010. We also aimed to validate the diagnoses of Tourette's syndrome recorded in the register.
Methods: Children born between January 1, 1991 and December 31, 2010, who were diagnosed with tic disorders, were identified from the Finnish Hospital Discharge Register (n = 3003). We studied the validity of the Tourette's syndrome diagnoses by reviewing the medical charts of 88 children born since 1997 and carrying out telephone interviews with 55 of their guardians.
Results: The incidence rates of all diagnosed tic disorders increased during the study period. A comorbid diagnosis of hyperkinetic disorder diagnosis was recorded in 28.2% of the children with Tourette's syndrome, and the validity of the register-based Tourette's syndrome diagnosis was approximately 95%.
Conclusion: This is the first nationwide study to demonstrate the increasing incidence of all register-based tic disorder diagnoses. The validity of the Tourette's syndrome diagnoses in the Finnish Hospital Discharge Register was good, and the data provided are suitable for use in further register-based studies of tic disorders.
C1 [Leivonen, Susanna; Hinkka-Yli-Salomaki, Susanna; Timonen-Soivio, Laura; Chudal, Roshan; Gissler, Mika; Huttunen, Jukka; Sourander, Andre] Univ Turku, Dept Child Psychiat, Turku, Finland.
[Leivonen, Susanna; Voutilainen, Arja; Timonen-Soivio, Laura] Univ Helsinki, Childrens Hosp, Helsinki, Finland.
[Leivonen, Susanna; Voutilainen, Arja; Timonen-Soivio, Laura] Univ Helsinki, Cent Hosp, Helsinki, Finland.
[Gissler, Mika] Natl Inst Hlth & Welf THL, Helsinki, Finland.
[Gissler, Mika] Nord Sch Publ Hlth NHV, Gothenburg, Sweden.
[Sourander, Andre] Turku Univ Hosp, Dept Child Psychiat, FIN-20520 Turku, Finland.
[Sourander, Andre] UiT, RKBU, Tromso, Norway.
RP Leivonen, S (reprint author), Univ Turku, Dept Child Psychiat, Kliininen Laitos, Turun 20014, Finland.
EM susanna.leivonen@utu.fi
RI Chudal, Roshan/C-1067-2015
FU Sigrid Juselius Foundation; Jane and Aatos Erkko Foundation; Academy of
Finland
FX We are grateful to families who participated in the interview study and
the people in Helsinki and Turku University central hospitals and
Rovaniemi, Jyvaskyla and Mikkeli central hospitals who did help with the
identification of the children and gathering the data. We would also
like to thank data manager Juha-Pekka Virtanen and project coordinator
Tanja Sarlin and Jarna Lindroos at the Department of child psychiatry,
Turku University hospital. The study was funded by Sigrid Juselius
Foundation, Jane and Aatos Erkko Foundation and Academy of Finland. On
behalf of all authors, the corresponding author states that there is no
conflict of interests.
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World Health Organization (WHO), 1992, INT CLASS DIS 10 REV
NR 30
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0803-5253
EI 1651-2227
J9 ACTA PAEDIATR
JI Acta Paediatr.
PD SEP
PY 2014
VL 103
IS 9
BP 984
EP 990
DI 10.1111/apa.12708
PG 7
WC Pediatrics
SC Pediatrics
GA AO2GQ
UT WOS:000341136400024
PM 24862980
ER
PT J
AU Glidden, LM
Grein, KA
Ludwig, JA
AF Glidden, Laraine Masters
Grein, Katherine Anne
Ludwig, Jesse Andrew
TI The Down Syndrome Advantage: It Depends on What and When You Measure
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Down syndrome advantage; intellectual/developmental disability; family
adjustment; family expectations; adaptive behavior; longitudinal method;
stereotypes
ID DEVELOPMENTAL-DISABILITIES; INTELLECTUAL DISABILITY; SYNDROME
SPECIFICITY; PRESCHOOL-CHILDREN; BEHAVIOR PROBLEMS; MOTHERS; FAMILY;
AUTISM; VULNERABILITY; PERSPECTIVES
AB A "Down syndrome advantage''-better outcomes for individuals with Down syndrome and their families than for those with other intellectual/developmental disabilities (IDD)-is reduced when variables confounded with diagnostic category are controlled. We compared maternal outcomes in a longitudinal sample of families rearing children with Down syndrome or other IDD, and found that a Down syndrome advantage is (a) most likely when the metric is about the son/daughter rather than the parent or family more globally, (b) may be present or absent at different ages, and (c) is partially explained by higher levels of adaptive behavior for individuals with Down syndrome. We discuss the importance of multiple measures at multiple times, and implications for family expectations and adjustment at various life stages.
C1 [Glidden, Laraine Masters; Grein, Katherine Anne; Ludwig, Jesse Andrew] St Marys Coll Maryland, Dept Psychol, St Marys City, MD 20686 USA.
RP Glidden, LM (reprint author), St Marys Coll Maryland, Dept Psychol, 18952 E Fisher Rd, St Marys City, MD 20686 USA.
EM lmglidden@smcm.edu
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NR 40
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1944-7515
EI 1944-7558
J9 AJIDD-AM J INTELLECT
JI AJIDD-Am. J. Intellect. Dev. Disabil.
PD SEP
PY 2014
VL 119
IS 5
BP 389
EP 404
DI 10.1352/1944-7558-119.5.389
PG 16
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO3XQ
UT WOS:000341271000001
PM 25148054
ER
PT J
AU Totsika, V
Hastings, RP
Vagenas, D
Emerson, E
AF Totsika, Vasiliki
Hastings, Richard Patrick
Vagenas, Dimitrios
Emerson, Eric
TI Parenting and the Behavior Problems of Young Children With an
Intellectual Disability: Concurrent and Longitudinal Relationships in a
Population-Based Study
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE intellectual disability; parenting; longitudinal; parent-child
relationship
ID AUTISM SPECTRUM DISORDER; MATERNAL MENTAL-HEALTH; STONES TRIPLE P;
DIFFICULTIES QUESTIONNAIRE; MIDDLE CHILDHOOD; DEVELOPMENTAL-DISABILITY;
RELATIONSHIP QUALITY; EMOTIONAL-PROBLEMS; SYMPTOMS; CHAOS
AB We examined parenting behaviors, and their association with concurrent and later child behavior problems. Children with an intellectual disability (ID) were identified from a UK birth cohort (N = 516 at age 5). Compared to parents of children without an ID, parents of children with an ID used discipline less frequently, but reported a more negative relationship with their child. Among children with an ID, discipline, and home atmosphere had no long-term association with behavior problems, whereas relationship quality did: closer relationships were associated with fewer concurrent and later child behavior problems. Increased parent-child conflict was associated with greater concurrent and later behavior problems. Parenting programs in ID could target parent-child relationship quality as a potential mediator of behavioral improvements in children.
C1 [Totsika, Vasiliki; Hastings, Richard Patrick] Univ Warwick, Coventry CV4 7AL, W Midlands, England.
[Vagenas, Dimitrios] Queensland Univ Technol, Brisbane, Qld 4001, Australia.
[Emerson, Eric] Univ Sydney, Sydney, NSW 2006, Australia.
[Emerson, Eric] Univ Lancaster, Lancaster LA1 4YW, England.
RP Totsika, V (reprint author), Univ Warwick, CEDAR, Westwood Campus, Coventry CV4 7AL, W Midlands, England.
EM V.Totsika@warwick.ac.uk
RI Hastings, Richard/D-9657-2013
OI Hastings, Richard/0000-0002-0495-8270
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NR 54
TC 1
Z9 1
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1944-7515
EI 1944-7558
J9 AJIDD-AM J INTELLECT
JI AJIDD-Am. J. Intellect. Dev. Disabil.
PD SEP
PY 2014
VL 119
IS 5
BP 422
EP 435
DI 10.1352/1944-7558-119.5.422
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO3XQ
UT WOS:000341271000003
PM 25148056
ER
PT J
AU Shire, SY
Kasari, C
AF Shire, Stephanie Yoshiko
Kasari, Connie
TI Train the Trainer Effectiveness Trials of Behavioral Intervention for
Individuals With Autism: A Systematic Review
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE effectiveness trials; Train-the-Trainer; autism; intervention
ID JOINT ATTENTION INTERVENTION; SPECTRUM DISORDERS; PSYCHOSOCIAL
INTERVENTIONS; FOLLOW-UP; CHILDREN; PSYCHOTHERAPY; PRESCHOOLERS;
PROGRAM; MODEL
AB This systematic review examines train the trainer (TTT) effectiveness trials of behavioral interventions for individuals with autism spectrum disorder (ASD). Published methodological quality scales were used to assess studies including participant description, research design, intervention, outcomes, and analysis. Twelve studies including 9 weak quality quasi-experimental studies, 2 single-subject experimental design studies of moderate and weak quality, and 1 high quality randomized control trial were included. Overall, author reported effect sizes and calculation of improvement rate difference for SSRDs indicate positive effects of intervention across participant outcomes including cognition, language, and autism symptoms postcommunity delivered interventions primarily based in applied behavior analysis. Effects varied by children's developmental level.
C1 [Shire, Stephanie Yoshiko; Kasari, Connie] Univ Calif Los Angeles, Los Angeles, CA 90095 USA.
RP Shire, SY (reprint author), Univ Calif Los Angeles, Neuropsychiat Inst 67 448, 760 Westwood Plaza, Los Angeles, CA 90095 USA.
EM sypatterson@ucla.edu
CR American Academy of Cerebral Palsy and Developmental Medicine, 2008, METHODOLOGY TO DEVEL
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World Health Organization, 2005, MENTAL HEALTH POLICY
NR 34
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1944-7515
EI 1944-7558
J9 AJIDD-AM J INTELLECT
JI AJIDD-Am. J. Intellect. Dev. Disabil.
PD SEP
PY 2014
VL 119
IS 5
BP 436
EP 451
DI 10.1352/1944-7558-119.5.436
PG 16
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO3XQ
UT WOS:000341271000004
PM 25148057
ER
PT J
AU Lieberman-Betz, RG
Yoder, P
Stone, WL
Nahmias, AS
Carter, AS
Celimli-Aksoy, S
Messinger, DS
AF Lieberman-Betz, Rebecca G.
Yoder, Paul
Stone, Wendy L.
Nahmias, Allison S.
Carter, Alice S.
Celimli-Aksoy, Seniz
Messinger, Daniel S.
TI An Illustration of Using Multiple Imputation Versus Listwise Deletion
Analyses: The Effect of Hanen's "More Than Words'' on Parenting Stress
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE missing data analysis; multiple imputation; autism spectrum disorder;
early intervention; parent stress
ID AUTISM SPECTRUM DISORDERS; RANDOMIZED CONTROLLED-TRIAL; MISSING-DATA;
YOUNG-CHILDREN; 2-YEAR-OLDS STAT; MATERNAL STRESS; SCREENING TOOL;
FAMILY STRESS; MENTAL-HEALTH; INTERVENTION
AB This investigation illustrates the effects of using different missing data analysis techniques to analyze effects of a parent-implemented treatment on stress in parents of toddlers with autism symptomatology. The analysis approaches yielded similar results when analyzing main effects of the intervention, but different findings for moderation effects. Using listwise deletion, the data supported an iatrogenic effect of Hanen's "More Than Words'' on stress in parents with high levels of pretreatment depressive symptoms. Using multiple imputation, a significant moderated treatment effect with uninterpretable regions of significance did not support an iatrogenic effect of treatment on parenting stress. Results highlight the need for caution in interpreting analyses that do not involve validated methods of handling missing data.
C1 [Lieberman-Betz, Rebecca G.; Yoder, Paul] Vanderbilt Univ, Peabody Coll, Dept Special Educ, Nashville, TN USA.
[Stone, Wendy L.] Vanderbilt Univ, Dept Pediat, Nashville, TN USA.
[Nahmias, Allison S.] Vanderbilt Univ, Nashville, TN USA.
[Carter, Alice S.] Univ Massachusetts Boston, Dept Psychol, Boston, MA USA.
[Celimli-Aksoy, Seniz; Messinger, Daniel S.] Univ Miami, Dept Psychol, Coral Gables, FL 33124 USA.
RP Lieberman-Betz, RG (reprint author), Univ Georgia, Dept Commun Sci & Special Educ, 565 Aderhold Hall, Athens, GA 30602 USA.
EM rglb@uga.edu
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NR 64
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1944-7515
EI 1944-7558
J9 AJIDD-AM J INTELLECT
JI AJIDD-Am. J. Intellect. Dev. Disabil.
PD SEP
PY 2014
VL 119
IS 5
BP 472
EP 486
DI 10.1352/1944-7558-119.5.472
PG 15
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO3XQ
UT WOS:000341271000006
PM 25148059
ER
PT J
AU Ogata, H
Ihara, H
Murakami, N
Gito, M
Kido, Y
Nagai, T
AF Ogata, Hiroyuki
Ihara, Hiroshi
Murakami, Nobuyuki
Gito, Masao
Kido, Yasuhiro
Nagai, Toshiro
TI Autism Spectrum Disorders and Hyperactive/Impulsive Behaviors in
Japanese Patients With Prader-Willi Syndrome: A Comparison Between
Maternal Uniparental Disomy and Deletion Cases
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE Prader-Willi syndrome; chromosome 15q11-13; autism spectrum disorders;
maternal uniparental disomy 15 (mUPD); adolescents
ID PERVASIVE DEVELOPMENTAL DISORDERS; ABILITIES; CHILDREN
AB This study aims to compare maternal uniparental disomy 15 (mUPD) and a paternal deletion of 15q11-13 (DEL) of Prader-Willi syndrome (PWS) in regard to autism spectrum disorders (ASD). Forty-five Japanese individuals with PWS were recruited from a single recruitment center. The participants consisted of 22 children (aged from 6 to 12) and 23 adolescents (aged from 13 to 19). Six children and seven adolescents were confirmed as having mUPD. Sixteen children and 16 adolescents were confirmed as having DEL. Under blindness to the participants' genotypes, a single psychologist carried out behavioral and psychological assessments, including the Wechsler Intelligence Scales, Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS), and ADHD-Rating Scale-IV (ADHD-RS-IV). Two comparisons were made: one between mUPD and DEL children and another between mUPD and DEL adolescents. In children, no significant differences were found between mUPD and DEL participants in terms of autistic (PARS childhood, P = 0.657) and impulsive behaviors (ADHD-RS-IV hyperactive/impulsive, P = 0.275). In adolescents, mUPD patients showed significantly more autistic symptomatology (PARS adolescent, P = 0.027) and significantly more impulsive behavior (ADHD-RS-IV hyperactive/impulsive, P = 0.01) than DEL patients. Our findings about Japanese PWS patients were consistent with previous researches from western countries not focused on Asian patients, indicating that mUPD cases would be more prone to ASD than DEL cases, regardless of ethnoregional differences. In addition, our data suggested that the behavioral difference between mUPD and DEL cases in terms of autistic and impulsive symptoms tend to be unrecognizable in their childhood. (C) 2014 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.
C1 [Ogata, Hiroyuki; Ihara, Hiroshi; Gito, Masao] Dokkyo Med Univ, Dept Psychiat, Koshigaya Hosp, Koshigaya, Japan.
[Murakami, Nobuyuki; Kido, Yasuhiro; Nagai, Toshiro] Dokkyo Med Univ, Dept Pediat, Koshigaya Hosp, Koshigaya, Japan.
[Gito, Masao] Ikezawa Hosp, Dept Psychiat, Hanyu, Japan.
RP Ihara, H (reprint author), Dokkyo Med Univ, Dept Psychiat, Koshigaya Hosp, Minami Koshigaya 2-1-50, Koshigaya, Japan.
EM cotoncb@dokkyomed.ac.jp
FU Juntendo Institute of Psychiatry [Heisei 25]
FX This research was supported by a grant for Research Support Foundation
from the Juntendo Institute of Psychiatry in the financial year 2013
(Heisei 25).
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NR 29
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD SEP
PY 2014
VL 164A
IS 9
BP 2180
EP 2186
DI 10.1002/ajmg.a.36615
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AN5YO
UT WOS:000340669200007
PM 24850752
ER
PT J
AU Canetta, S
Sourander, A
Surcel, HM
Hinkka-Yli-Salomaki, S
Leiviska, J
Kellendonk, C
McKeague, IW
Brown, AS
AF Canetta, Sarah
Sourander, Andre
Surcel, Helja-Marja
Hinkka-Yli-Salomaki, Susanna
Leiviska, Jaana
Kellendonk, Christoph
McKeague, Ian W.
Brown, Alan S.
TI Elevated Maternal C-Reactive Protein and Increased Risk of Schizophrenia
in a National Birth Cohort
SO AMERICAN JOURNAL OF PSYCHIATRY
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; PRENATAL IMMUNE ACTIVATION; INFLUENZA
EPIDEMIC; BRAIN-DEVELOPMENT; BIPOLAR DISORDER; ANIMAL-MODELS; EXPOSURE;
INFECTION; PREECLAMPSIA; PREGNANCY
AB Objective: The objective of the present study was to investigate an association between early gestational C-reactive protein, an established inflammatory biomarker, prospectively assayed in maternal sera, and schizophrenia in a large, national birth cohort with an extensive serum biobank.
Method: A nested case-control design from the Finnish Prenatal Study of Schizophrenia cohort was utilized. A total of 777 schizophrenia cases (schizophrenia, N=630; schizoaffective disorder, N=147) with maternal sera available for C-reactive protein testing were identified and matched to 777 control subjects in the analysis. Maternal C-reactive protein levels were assessed using a latex immunoassay from archived maternal serum specimens.
Results: Increasing maternal C-reactive protein levels, classified as a continuous variable, were significantly associated with schizophrenia in offspring (adjusted odds ratio=1.31, 95% confidence interval=1.10-1.56). This finding remained significant after adjusting for potential confounders, including maternal and parental history of psychiatric disorders, twin/singleton birth, urbanicity, province of birth, and maternal socioeconomic status.
Conclusions: This finding provides the most robust evidence to date that maternal inflammation may play a significant role in schizophrenia, with possible implications for identifying preventive strategies and pathogenic mechanisms in schizophrenia and other neurodevelopmental disorders.
C1 [Brown, Alan S.] Columbia Univ, Dept Psychiat, New York State Psychiat Inst, Med Ctr, New York, NY 10027 USA.
Columbia Univ, Dept Pharmacol, New York State Psychiat Inst, Med Ctr, New York, NY USA.
Univ Turku, Fac Med, Dept Child Psychiat, Turku, Finland.
Turku Univ Hosp, Dept Child Psychiat, FIN-20520 Turku, Finland.
Natl Inst Hlth & Welf, Oulu, Finland.
Natl Inst Hlth & Welf, Dept Chron Dis Prevent, Helsinki, Finland.
Columbia Univ, Mailman Sch Publ Hlth, Dept Biostat, New York, NY USA.
Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY USA.
RP Brown, AS (reprint author), Columbia Univ, Dept Psychiat, New York State Psychiat Inst, Med Ctr, New York, NY 10027 USA.
EM asb11@columbia.edu
FU NIMH [R01 MH-082052-05, K02 MH-065422-09, T32 MH-16434-31]; State
Research Institute; Sackler Institute Fellowship
FX Supported by grants R01 MH-082052-05 and K02 MH-065422-09 (to Dr. Brown)
from NIMH and the State Research Institute and grant T32 MH-16434-31 (to
Dr. Canetta) from NIMH and the Sackler Institute Fellowship.
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NR 49
TC 6
Z9 6
PU AMER PSYCHIATRIC PUBLISHING, INC
PI ARLINGTON
PA 1000 WILSON BOULEVARD, STE 1825, ARLINGTON, VA 22209-3901 USA
SN 0002-953X
EI 1535-7228
J9 AM J PSYCHIAT
JI Am. J. Psychiat.
PD SEP
PY 2014
VL 171
IS 9
BP 960
EP 968
DI 10.1176/appi.ajp.2014.13121579
PG 9
WC Psychiatry
SC Psychiatry
GA AO1MU
UT WOS:000341077000013
PM 24969261
ER
PT J
AU McCoy, BM
Rickert, ME
Class, QA
Larsson, H
Lichtenstein, P
D'Onofrio, BM
AF McCoy, Brittany M.
Rickert, Martin E.
Class, Quetzal A.
Larsson, Henrik
Lichtenstein, Paul
D'Onofrio, Brian M.
TI Mediators of the association between parental severe mental illness and
offspring neurodevelopmental problems
SO ANNALS OF EPIDEMIOLOGY
LA English
DT Article
DE Attention deficit hyperactivity disorder; Autism spectrum disorder;
Infant; Small for gestational age; Birth weight; Gestational age
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS;
ADVERSE PREGNANCY OUTCOMES; LOW-BIRTH-WEIGHT; RISK-FACTORS;
PSYCHIATRIC-DISORDERS; BIPOLAR DISORDER; PRETERM BIRTH;
BRAIN-DEVELOPMENT; GESTATIONAL-AGE
AB Purpose: Parental severe mental illness (SMI) is associated with an increased risk of offspring autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). We conducted a study to examine the extent to which risk of preterm birth, low birth weight, and small for gestational age mediated this association.
Methods: We obtained data on offspring born 1992-2001 in Sweden (n = 870,017) through the linkage of multiple population-based registers. We used logistic and Cox regression to assess the associations between parental SMI, adverse pregnancy outcomes, and offspring ASD and ADHD, as well as tested whether adverse pregnancy outcomes served as mediators.
Results: After controlling for measured covariates, maternal and paternal SMI were associated with an increased risk for preterm birth, low birth weight, and gestational age, and for offspring ASD and ADHD. These pregnancy outcomes were also associated with an increased risk of ASD and ADHD. We found that pregnancy outcomes did not mediate the association between parental SMI and offspring ASD and ADHD, as there was no substantial change in magnitude of the risk estimates after controlling for pregnancy outcomes.
Conclusions: Parental SMI and adverse pregnancy outcomes appear to be independent risk factors for offspring ASD and ADHD. (C) 2014 Elsevier Inc. All rights reserved.
C1 [McCoy, Brittany M.; Rickert, Martin E.; Class, Quetzal A.; D'Onofrio, Brian M.] Indiana Univ, Dept Psychol & Brain Sci, Bloomington, IN 47405 USA.
[Larsson, Henrik; Lichtenstein, Paul] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
RP D'Onofrio, BM (reprint author), Indiana Univ, Dept Psychol & Brain Sci, 1101 East 10th St, Bloomington, IN 47405 USA.
EM bmdonofr@indiana.edu
RI Maattanen, Laura/N-5424-2014
FU National Institute of Child Health and Human Development [HD061817];
National Institute of Mental Health [MH094011]; Swedish council for
working life and social research; Swedish Research Council (Medicine);
Swedish Society of Medicine
FX The study was supported by grants from the National Institute of Child
Health and Human Development (HD061817), National Institute of Mental
Health (MH094011), the Swedish council for working life and social
research, the Swedish Research Council (Medicine), and the Swedish
Society of Medicine.
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NR 47
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1047-2797
EI 1873-2585
J9 ANN EPIDEMIOL
JI Ann. Epidemiol.
PD SEP
PY 2014
VL 24
IS 9
BP 629
EP 634
DI 10.1016/j.annepidem.2014.05.010
PG 6
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AN8OX
UT WOS:000340864600001
PM 25037304
ER
PT J
AU Yousafzai, AK
Lynch, P
Gladstone, M
AF Yousafzai, Aisha K.
Lynch, Paul
Gladstone, Melissa
TI Moving beyond prevalence studies: screening and interventions for
children with disabilities in low-income and middle-income countries
SO ARCHIVES OF DISEASE IN CHILDHOOD
LA English
DT Article
ID RANDOMIZED CONTROLLED-TRIAL; AUTISM SPECTRUM DISORDER; KEY INFORMANT
METHOD; CEREBRAL-PALSY; YOUNG-CHILDREN; CHILDHOOD DISABILITY; PARENTS
CONCERNS; 10 QUESTIONS; INTELLECTUAL DISABILITIES; NEUROLOGICAL
IMPAIRMENT
AB Research understanding the lives of children with disabilities in low-income and middle-income countries has predominantly focused on prevalence studies with little progress on evidence-based service development. At the same time, global attention in child health has shifted from child survival strategies to those that bring child survival and development together. This review examines whether intervention research can be better aligned with current theoretical constructs of disability and international guidelines that advocate for the realisation of rights for children with disabilities and inclusive early childhood development.
C1 [Yousafzai, Aisha K.] Aga Khan Univ, Dept Paediat & Child Hlth, Karachi 74800, Pakistan.
[Lynch, Paul] Univ Birmingham, Sch Educ, Dept Inclus, Birmingham B15 2TT, W Midlands, England.
[Gladstone, Melissa] Univ Liverpool, Dept Women & Childrens Hlth, Inst Translat Med, Liverpool L69 3BX, Merseyside, England.
RP Yousafzai, AK (reprint author), Aga Khan Univ, Dept Paediat & Child Hlth, Stadium Rd,POB 3500, Karachi 74800, Pakistan.
EM aisha.yousafzai@aku.edu
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NR 84
TC 3
Z9 3
PU BMJ PUBLISHING GROUP
PI LONDON
PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
SN 0003-9888
EI 1468-2044
J9 ARCH DIS CHILD
JI Arch. Dis. Child.
PD SEP
PY 2014
VL 99
IS 9
BP 840
EP 848
DI 10.1136/archdischild-2012-302066
PG 9
WC Pediatrics
SC Pediatrics
GA AN8BN
UT WOS:000340826300012
PM 24647995
ER
PT J
AU Saloviita, T
Leppanen, M
Ojalammi, U
AF Saloviita, Timo
Leppanen, Marjatta
Ojalammi, Ulla
TI Authorship in Facilitated Communication: An Analysis of 11 Cases
SO AUGMENTATIVE AND ALTERNATIVE COMMUNICATION
LA English
DT Article
DE Autism; Facilitated communication; Intellectual disabilities;
Augmentative and alternative communication
ID AUTISM; GRAMMAR; LEXICON; AAC
AB We studied the authorship of messages produced through facilitated communication (FC) for all users of FC in two comprehensive schools in a small city in Finland. The participants were 11 children with intellectual disabilities, including autism, all having used FC from 1 - 3 years. The test conditions involved open and blind information- passing tasks in which the participants were directed to write down the contents of written or pictorial stimuli. The results failed to validate FC as a method of communication for any participant or facilitator. An analysis of the messages produced under the FC condition revealed a large degree of facilitator infl uence on the content of the messages produced. Additionally, FC impaired the performance of the two participants who had previously demonstrated some independent writing skills.
C1 [Saloviita, Timo] Univ Jyvaskyla, Dept Teacher Educ, FIN-40014 Jyvaskyla, Finland.
[Ojalammi, Ulla] Nuoliala Primary Sch, Tampere, Finland.
RP Saloviita, T (reprint author), Univ Jyvaskyla, Dept Teacher Educ, POB 35, FIN-40014 Jyvaskyla, Finland.
EM timo.saloviita@jyu.fi
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NR 36
TC 2
Z9 2
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 0743-4618
EI 1477-3848
J9 AUGMENT ALTERN COMM
JI Augment. Altern. Commun.
PD SEP
PY 2014
VL 30
IS 3
BP 213
EP 225
DI 10.3109/07434618.2014.927529
PG 13
WC Audiology & Speech-Language Pathology; Rehabilitation
SC Audiology & Speech-Language Pathology; Rehabilitation
GA AO4JE
UT WOS:000341302500003
PM 24946681
ER
PT J
AU Zalla, T
AF Zalla, Tiziana
TI Amygdala, Oxytocin, and Social Cognition in Autism Spectrum Disorders
SO BIOLOGICAL PSYCHIATRY
LA English
DT Editorial Material
C1 [Zalla, Tiziana] Ecole Normale Super, Natl Ctr Sci Res UMR 8129, Inst Jean Nicod, Inst Etud Cognit, F-75005 Paris, France.
RP Zalla, T (reprint author), Ecole Normale Super, Inst Jean Nicod, Dept Cognit Studies, CNRS, 29 Rue Ulm, F-75005 Paris, France.
EM tiziana.zalla@ens.fr
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NR 10
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD SEP 1
PY 2014
VL 76
IS 5
BP 356
EP 357
DI 10.1016/j.biopsych.2014.06.022
PG 2
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AN8WQ
UT WOS:000340886800004
PM 25103540
ER
PT J
AU Kohls, G
Yerys, BE
Schultz, RT
AF Kohls, Gregor
Yerys, Benjamin E.
Schultz, Robert T.
TI Striatal Development in Autism: Repetitive Behaviors and the Reward
Circuitry
SO BIOLOGICAL PSYCHIATRY
LA English
DT Editorial Material
ID BRAIN
C1 [Kohls, Gregor] Rhein Westfal TH Aachen, Dept Child & Adolescent Psychiat Psychosomat & Ps, Child Neuropsychol Sect, Aachen, Germany.
[Yerys, Benjamin E.; Schultz, Robert T.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA.
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[Yerys, Benjamin E.; Schultz, Robert T.] Univ Penn, Perelman Sch Med, Dept Psychiat, Philadelphia, PA 19104 USA.
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NR 10
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD SEP 1
PY 2014
VL 76
IS 5
BP 358
EP 359
DI 10.1016/j.biopsych.2014.07.010
PG 2
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AN8WQ
UT WOS:000340886800005
PM 25103541
ER
PT J
AU Chini, B
Leonzino, M
Braida, D
Sala, M
AF Chini, Bice
Leonzino, Marianna
Braida, Daniela
Sala, Mariaelvina
TI Learning About Oxytocin: Pharmacologic and Behavioral Issues
SO BIOLOGICAL PSYCHIATRY
LA English
DT Review
DE Animal models; consolidation; flexibility; learning and memory;
neuropeptide; neuropsychiatric disorders; oxytocin
ID PASSIVE-AVOIDANCE BEHAVIOR; NON-PYRAMIDAL NEURONS; RAT HIPPOCAMPUS;
SOCIAL RECOGNITION; ALZHEIMERS-DISEASE; OPPOSITE ACTION; HUMAN-MEMORY;
NEUROHYPOPHYSEAL HORMONES; RECEPTOR ANTAGONISTS; VENTRAL HIPPOCAMPUS
AB Despite the accumulating evidence suggesting that the neuropeptide oxytocin (OT) plays a role in neuropsychiatric disorders characterized by social dysfunction, the influence of OT on the nonsocial aspects of learning and memory have been less investigated. To foster research in this area, we review the effects of OT on learning and memory in animal models and humans. In healthy animal models, OT improves memory consolidation and extinction, but only if given at a low dose immediately after the acquisition phase. On the contrary, OT effects in healthy humans have been inconsistent; although, in this case, OT was always given before the acquisition phase and no dose-response curves have ever been drawn up. Interestingly, a specific impairment in the reversal of learning has been found in mice devoid of OT receptors and OT has been demonstrated to enhance fear extinction in rodents. All together, these data suggest that OT plays a role in elementary forms of behavioral flexibility and adaptive responses and support its therapeutic potential in neuropsychiatric disorders characterized by cognitive inflexibility and/or impairment (autism, schizophrenia, Alzheimer's disease, Parkinson disease, stroke, posttraumatic stress disorder). Accordingly, OT has been shown to improve cognitive flexibility in OT receptor-deficient mice, and scattered findings indicate that intranasal OT has positive effects on the memory of patients with schizophrenia or posttraumatic stress disorders. Further studies of the therapeutic potential of OT as an enhancer of learning and memory are warranted.
C1 [Chini, Bice; Leonzino, Marianna; Sala, Mariaelvina] Univ Milan, Natl Res Council, Milan, Italy.
[Leonzino, Marianna; Braida, Daniela; Sala, Mariaelvina] Univ Milan, Inst Neurosci, Dipartimento Biotecnol Med & Med Traslaz, Milan, Italy.
[Braida, Daniela] Fondazione Ist Ricovero & Cura Carattere Sci Don, Milan, Italy.
RP Sala, M (reprint author), Univ Milan, Dipartimento Biotecnol Med & Med Traslaz, I-20129 Milan, Italy.
EM mariaelvina.sala@unimi.it
FU Telethon Foundation Grant [GGP12207]
FX This work was supported by the Telethon Foundation Grant GGP12207 to BC.
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Z9 3
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
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PY 2014
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BP 360
EP 366
PG 7
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UT WOS:000340886800006
PM 24120095
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LA English
DT Article
DE Autism; brain development; corticostriatal circuitry; insistence on
sameness; repetitive behavior; striatum
ID SPECTRUM DISORDERS; DIAGNOSTIC INTERVIEW; INHIBITORY CONTROL; BRAIN
OVERGROWTH; CAUDATE-NUCLEUS; BASAL GANGLIA; DAT1 GENOTYPE; VOLUME;
CHILDREN; TRAJECTORIES
AB Background: Repetitive behavior is a core feature of autism and has been linked to differences in striatum. In addition, the brain changes associated with autism appear to vary with age. However, most studies investigating striatal differences in autism are cross-sectional, limiting inferences on development. In this study, we set out to 1) investigate striatal development in autism, using a longitudinal design; and 2) examine the relationship between striatal development and repetitive behavior.
Methods: We acquired longitudinal structural magnetic resonance imaging scans from 86 individuals (49 children with autism, 37 matched control subjects). Each individual was scanned twice, with a mean scan interval time of 2.4 years. Mean age was 9.9 years at time 1 and 12.3 years at time 2. Striatal structures were traced manually with high reliability. Multivariate analyses of variance were used to investigate differences in brain development between diagnostic groups. To examine the relationship with behavior, correlations between changes in brain volumes and clinical measures were calculated.
Results: Our results showed an increase in the growth rate of striatal structures for individuals with autism compared with control subjects. The effect was specific to caudate nucleus, where growth rate was doubled. Second, faster striatal growth was correlated with more severe repetitive behavior (insistence on sameness) at the preschool age.
Conclusions: This longitudinal study of brain development in autism confirms the involvement of striatum in repetitive behavior. Furthermore, it underscores the significance of brain development in autism, as the severity of repetitive behavior was related to striatal growth, rather than volume per se.
C1 [Langen, Marieke; Bos, Dienke; Noordermeer, D. S.; Nederveen, Hilde; van Engeland, Herman; Durston, Sarah] Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Dept Psychiat, NICHE Lab, Utrecht, Netherlands.
RP Langen, M (reprint author), Univ Med Ctr Utrecht, Julius Ctr, HP STR 6,131 Heidelber Glaan 100, NL-3584 CX Utrecht, Netherlands.
EM m.langen@umcutrecht.nl
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NR 60
TC 5
Z9 5
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD SEP 1
PY 2014
VL 76
IS 5
BP 405
EP 411
DI 10.1016/j.biopsych.2013.08.013
PG 7
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AN8WQ
UT WOS:000340886800011
PM 24090791
ER
PT J
AU Solomon, M
Yoon, JH
Ragland, JD
Niendam, TA
Lesh, TA
Fairbrother, W
Carter, CS
AF Solomon, Marjorie
Yoon, Jong H.
Ragland, J. Daniel
Niendam, Tara A.
Lesh, Tyler A.
Fairbrother, Wonja
Carter, Cameron S.
TI The Development of the Neural Substrates of Cognitive Control in
Adolescents with Autism Spectrum Disorders
SO BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Adolescence; autism spectrum disorders; cognitive control; development;
fMRI; response inhibition
ID HIGH-FUNCTIONING AUTISM; ANTERIOR CINGULATE CORTEX;
ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; WORKING-MEMORY; EXECUTIVE
FUNCTION; RESPONSE-INHIBITION; CONNECTIVITY MRI; CORPUS-CALLOSUM;
CONTROL NETWORK; MOTOR CONTROL
AB Background: Autism spectrum disorders (ASDs) involve impairments in cognitive control. In typical development (TYP), neural systems underlying cognitive control undergo substantial maturation during adolescence. Development is delayed in adolescents with ASD. Little is known about the neural substrates of this delay.
Methods: We used event-related functional magnetic resonance imaging and a cognitive control task involving overcoming a prepotent response tendency to examine the development of cognitive control in young (ages 12-15; n = 13 with ASD and n = 13 with TYP) and older (ages 16-18; n = 14 with ASD and n = 14 with TYP) adolescents with whole-brain voxelwise univariate and task-related functional connectivity analyses.
Results: Older ASD and TYP showed reduced activation in sensory and premotor areas relative to younger ones. The older ASD group showed reduced left parietal activation relative to TYP. Functional connectivity analyses showed a significant age by group interaction with the older ASD group exhibiting increased functional connectivity strength between the ventrolateral prefrontal cortex and the anterior cingulate cortex, bilaterally. This functional connectivity strength was related to task performance in ASD, whereas that between dorsolateral prefrontal cortex and parietal cortex (Brodmann areas 9 and 40) was related to task performance in TYP.
Conclusions: Adolescents with ASD rely more on reactive cognitive control, involving last-minute conflict detection and control implementation by the anterior cingulate cortex and ventrolateral prefrontal cortex, versus proactive cognitive control requiring processing by dorsolateral prefrontal cortex and parietal cortex. Findings await replication in larger longitudinal studies that examine their functional consequences and amenability to intervention.
C1 [Solomon, Marjorie; Yoon, Jong H.; Ragland, J. Daniel; Niendam, Tara A.; Lesh, Tyler A.; Fairbrother, Wonja; Carter, Cameron S.] Univ Calif, Dept Psychiat & Behav Sci, Davis, CA USA.
[Solomon, Marjorie; Fairbrother, Wonja] MIND Inst, Sacramento, CA USA.
[Solomon, Marjorie; Yoon, Jong H.; Ragland, J. Daniel; Niendam, Tara A.; Lesh, Tyler A.; Carter, Cameron S.] Univ Calif Davis, Imaging Res Ctr, Sacramento, CA 95817 USA.
RP Solomon, M (reprint author), UC Davis Hlth Syst, MIND Inst, 2825 50th St, Sacramento, CA 95817 USA.
EM marjorie.solomon@ucdmc.ucdavis.edu
FU National Institute of Mental Health [1-K-08 MH074967-01, 2R01
MH059883-05A1, 1R24MH081807, K23MH087708, R01MH084895, K-08]; Building
Interdisciplinary Research Careers in Women's Health Award - National
Institute of Child Health and Human Development, Office of Research on
Women's Health, Office of Dietary Supplements [K12 HD051958]; National
Institute of Aging; National Alliance for Research on Schizophrenia and
Depression (Atherton Foundation); GlaxoSmithKline
FX This work was supported by a K-08 Award from the National Institute of
Mental Health (1-K-08 MH074967-01); a Building Interdisciplinary
Research Careers in Women's Health Award (K12 HD051958) funded by the
National Institute of Child Health and Human Development, Office of
Research on Women's Health, Office of Dietary Supplements, and the
National Institute of Aging; and a Pilot Award from the National
Alliance for Research on Schizophrenia and Depression (Atherton
Foundation) to Marjorie Solomon. During the time of the study, Dr.
Carter was supported by the National Institute of Mental Health (2R01
MH059883-05A1) and (1R24MH081807). Dr. Niendam was supported by the
National Institute of Mental Health (K23MH087708). Dr. Ragland was
supported by the National Institute of Mental Health (R01MH084895,
Ragland, Principal Investigator).Dr. Carter reports having been a
consultant for Pfizer, Merck, Lilly, and Servier. He also has received
funding from GlaxoSmithKline. Drs. Solomon, Yoon, Ragland, Niendam, and
Lesh and Ms. Fair-brother report no biomedical financial interests or
potential conflicts of interest.
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NR 106
TC 4
Z9 4
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD SEP 1
PY 2014
VL 76
IS 5
BP 412
EP 421
DI 10.1016/j.biopsych.2013.08.036
PG 10
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AN8WQ
UT WOS:000340886800012
PM 24209777
ER
PT J
AU Nuske, HJ
Vivanti, G
Hudry, K
Dissanayake, C
AF Nuske, Heather J.
Vivanti, Giacomo
Hudry, Kristelle
Dissanayake, Cheryl
TI Pupillometry reveals reduced unconscious emotional reactivity in autism
SO BIOLOGICAL PSYCHOLOGY
LA English
DT Article
DE Autism; Emotion; Pupil dilation; Unconscious; Subliminal; Implicit;
Backwards masking; Eye tracking; Autonomic nervous system; Physiological
responding; Pupillometry
ID FACIAL EXPRESSIONS; SPECTRUM DISORDERS; BACKWARD-MASKING;
YOUNG-CHILDREN; CONSCIOUS PERCEPTION; ASPERGER-SYNDROME; NEURAL
CIRCUITRY; HUMAN AMYGDALA; PUPIL SIZE; FACE
AB Recent theoretical conceptualisations have suggested that emotion processing impairments in autism stem from disruption to the sub-cortical, rapid emotion-processing system. We argue that a clear way to ascertain whether this system is affected in autism is by measuring unconscious emotional reactivity. Using backwards masking, we presented fearful expressions non-consciously (subliminally) as well as consciously (supraliminally), and measured pupillary responses as an index of emotional reactivity in 19 children with autism and 19 typically developing children, aged 2-5 years. The pupillary responses of the children with autism revealed reduced unconscious emotional reactivity, with no group differences on consciously presented emotion. Together, these results indicate a hyporesponsiveness to non-consciously presented emotion suggesting a fundamental difference in emotion processing in autism, which requires consciousness and more time. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Nuske, Heather J.; Vivanti, Giacomo; Hudry, Kristelle; Dissanayake, Cheryl] La Trobe Univ, Sch Psychol, Olga Tennison Autism Res Ctr, Melbourne, Vic 3086, Australia.
[Vivanti, Giacomo] La Trobe Univ, Victorian Autism Specif Early Learning & Care Ctr, Bundoora, Vic 3086, Australia.
RP Dissanayake, C (reprint author), La Trobe Univ, Sch Psychol, Olga Tennison Autism Res Ctr, Melbourne, Vic 3086, Australia.
EM h.nuske@latrobe.edu.au; g.vivanti@latrobe.edu.au;
k.hudry@latrobe.edu.au; c.dissanayake@latrobe.edu.au
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NR 118
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0301-0511
EI 1873-6246
J9 BIOL PSYCHOL
JI Biol. Psychol.
PD SEP
PY 2014
VL 101
BP 24
EP 35
DI 10.1016/j.biopsycho.2014.07.003
PG 12
WC Psychology, Biological; Behavioral Sciences; Psychology; Psychology,
Experimental
SC Psychology; Behavioral Sciences
GA AN8FM
UT WOS:000340838800005
PM 25017502
ER
PT J
AU Gabriele, S
Sacco, R
Cerullo, S
Neri, C
Urbani, A
Tripi, G
Malvy, J
Barthelemy, C
Bonnet-Brilhault, F
Persico, AM
AF Gabriele, Stefano
Sacco, Roberto
Cerullo, Sonia
Neri, Cristina
Urbani, Andrea
Tripi, Gabriele
Malvy, Joelle
Barthelemy, Catherine
Bonnet-Brilhault, Frederique
Persico, Antonio M.
TI Urinary p-cresol is elevated in young French children with autism
spectrum disorder: a replication study
SO BIOMARKERS
LA English
DT Article
DE Gut flora; neurotoxicity; organic contaminants; p-cresylsulfate;
pervasive developmental disorders
ID INTESTINAL PERMEABILITY; DEVELOPMENTAL DISORDERS; PROPIONIC-ACID;
CRESYLSULPHATE; BEHAVIOR; DISEASE; ABNORMALITIES; BIOMARKERS; SULFATION;
SYMPTOMS
AB The aromatic compound p-cresol (4-methylphenol) has been found elevated in the urines of Italian autistic children up to 8 years of age. The present study aims at replicating these initial findings in an ethnically distinct sample and at extending them by measuring also the three components of urinary p-cresol, namely p-cresylsulfate, p-cresylglucuronate and free p-cresol. Total urinary p-cresol, p-cresylsulfate and p-cresylglucuronate were significantly elevated in 33 French autism spectrum disorder (ASD) cases compared with 33 sex-and age-matched controls (p<0.05). This increase was limited to ASD children aged <= 8 years (p<0.01), and not older (p=0.17). Urinary levels of p-cresol and p-cresylsulfate were associated with stereotypic, compulsive/repetitive behaviors (p<0.05), although not with overall autism severity. These results confirm the elevation of urinary p-cresol in a sizable set of small autistic children and spur interest into biomarker roles for p-cresol and p-cresylsulfate in autism.
C1 [Gabriele, Stefano; Sacco, Roberto; Cerullo, Sonia; Persico, Antonio M.] Univ Campus Biomed, Unit Child & Adolescent NeuroPsychiat, I-00128 Rome, Italy.
[Gabriele, Stefano; Sacco, Roberto; Cerullo, Sonia; Persico, Antonio M.] Univ Campus Biomed, Lab Mol Psychiat & Neurogenet, I-00128 Rome, Italy.
[Neri, Cristina; Urbani, Andrea] Univ Roma Tor Vergata, Dept Internal Med, Rome, Italy.
[Neri, Cristina; Urbani, Andrea] IRCCS Fdn S Lucia, Dept Expt Neurosci, Rome, Italy.
[Tripi, Gabriele] Univ Palermo, Dept PROSAMI, I-90133 Palermo, Italy.
[Tripi, Gabriele] CH Chinon, Childhood Psychiat Serv Neurodev Disorders, Chinon, France.
[Malvy, Joelle; Barthelemy, Catherine; Bonnet-Brilhault, Frederique] Univ Tours, Hop Bretonneau, Imagerie & Cerveau INSERM, U930, Tours, France.
[Persico, Antonio M.] Mafalda Luce Ctr Pervas Dev Disorders, Milan, Italy.
RP Persico, AM (reprint author), Univ Campus Biomed, Unit Child & Adolescent NeuroPsychiat, Via Alvaro del Portillo 21, I-00128 Rome, Italy.
EM s.gabriele@unicampus.it; r.sacco@unicampus.it; a.persico@unicampus.it
FU Italian Ministry for University, Scientific Research and Technology
[2008BACT54_002]; Italian Ministry of Health (CCM program, progetto
NIDA); Fondazione Gaetano e Mafalda Luce (Milan, Italy); Autism Aid
ONLUS (Naples, Italy); Autism Speaks (Princeton, NJ); Autism Research
Institute (San Diego, CA); European Union (Innovative Medicines
Initiative Joint Undertaking, EU-AIMS) [115300]
FX This work was financially supported by the Italian Ministry for
University, Scientific Research and Technology (n.2008BACT54_002), the
Italian Ministry of Health (CCM program 2012, progetto NIDA), the
Fondazione Gaetano e Mafalda Luce (Milan, Italy), Autism Aid ONLUS
(Naples, Italy), Autism Speaks (Princeton, NJ), the Autism Research
Institute (San Diego, CA), and the European Union (Innovative Medicines
Initiative Joint Undertaking, EU-AIMS, n. 115300). The authors declare
no conflicts of interest. The authors alone are responsible for the
content and writing of the paper.
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NR 60
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1354-750X
EI 1366-5804
J9 BIOMARKERS
JI Biomarkers
PD SEP
PY 2014
VL 19
IS 6
BP 463
EP 470
DI 10.3109/1354750X.2014.936911
PG 8
WC Biotechnology & Applied Microbiology; Toxicology
SC Biotechnology & Applied Microbiology; Toxicology
GA AN7GZ
UT WOS:000340768500005
PM 25010144
ER
PT J
AU Roos, L
Fang, M
Dali, C
Jensen, H
Christoffersen, N
Wu, B
Zhang, J
Xu, R
Harris, P
Xu, X
Gronskov, K
Tumer, Z
AF Roos, L.
Fang, M.
Dali, C.
Jensen, H.
Christoffersen, N.
Wu, B.
Zhang, J.
Xu, R.
Harris, P.
Xu, X.
Gronskov, K.
Tumer, Z.
TI A homozygous mutation in a consanguineous family consolidates the role
of ALDH1A3 in autosomal recessive microphthalmia
SO CLINICAL GENETICS
LA English
DT Article
DE ALDH1A3; exome sequencing; microphtalmia; retinoic acid
ID ANOPHTHALMIA/MICROPHTHALMIA; DEHYDROGENASE; FEATURES
AB Anomalies of eye development can lead to the rare eye malformations microphthalmia and anophthalmia (small or absent ocular globes), which are genetically very heterogeneous. Several genes have been associated with microphthalmia and anophthalmia, and exome sequencing has contributed to the identification of new genes. Very recently, homozygous variations within ALDH1A3 have been associated with autosomal recessive microphthalmia with or without cysts or coloboma, and with variable subphenotypes of developmental delay/autism spectrum disorder in eight families. In a consanguineous family where three of the five siblings were affected with microphthalmia/coloboma, we identified a novel homozygous missense mutation in ALDH1A3 using exome sequencing. Of the three affected siblings, one had intellectual disability and one had intellectual disability and autism, while the last one presented with normal development. This study contributes further to the description of the clinical spectrum associated with ALDH1A3 mutations, and illustrates the interfamilial clinical variation observed in individuals with ALDH1A3 mutations.
C1 [Roos, L.; Gronskov, K.; Tumer, Z.] Copenhagen Univ Hosp, Rigshosp, Kennedy Ctr, DK-2600 Glostrup, Denmark.
[Fang, M.; Wu, B.; Zhang, J.; Xu, X.] BGI Shenzhen, Dept Mendelian Disorder Res, Shenzhen, Peoples R China.
[Dali, C.] Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Copenhagen, Denmark.
[Jensen, H.; Christoffersen, N.] Copenhagen Univ Hosp, Rigshosp, Kennedy Ctr, Eye Clin, DK-2600 Glostrup, Denmark.
[Xu, R.] BGI Europe, Copenhagen, Denmark.
[Harris, P.] Tech Univ Denmark, Dept Chem, DK-2800 Lyngby, Denmark.
[Gronskov, K.] Univ Copenhagen, Dept Cellular & Mol Med, Copenhagen, Denmark.
RP Roos, L (reprint author), Copenhagen Univ Hosp, Rigshosp, Kennedy Ctr, Gl Landevej 7, DK-2600 Glostrup, Denmark.
EM laura.kirstine.soenderberg.roos@regionh.dk
RI Harris, Pernille/G-7289-2011
OI Harris, Pernille/0000-0002-6806-4903
FU Shenzhen Municipal Government of China [GJHZ20130417140916986]
FX The project conformed to the tenets of the Declaration of Helsinki and
was approved by the Regional Scientific Ethical Committee for
Copenhagen, Denmark. Written informed consent was obtained. This study
was supported by the Shenzhen Municipal Government of China (No.
GJHZ20130417140916986).
CR Aldahmesh MA, 2013, CLIN GENET, V84, P128, DOI 10.1111/cge.12184
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NR 19
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0009-9163
EI 1399-0004
J9 CLIN GENET
JI Clin. Genet.
PD SEP
PY 2014
VL 86
IS 3
BP 276
EP 281
DI 10.1111/cge.12277
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA AN8YP
UT WOS:000340892300013
PM 24024553
ER
PT J
AU Carton, AM
Smith, AD
AF Carton, Amelia Myri
Smith, Alastair D.
TI Assessing the relationship between eating disorder psychopathology and
autistic traits in a non-clinical adult population
SO EATING AND WEIGHT DISORDERS-STUDIES ON ANOREXIA BULIMIA AND OBESITY
LA English
DT Article
DE Eating disorders; Autism; Eat-26; Autism quotient; Broader phenotype
ID WEAK CENTRAL COHERENCE; SPECTRUM QUOTIENT AQ; ANOREXIA-NERVOSA;
BULIMIA-NERVOSA; ASPERGER SYNDROME; COGNITIVE-STYLE; CHILDREN;
INDIVIDUALS; CHILDHOOD; MIND
AB Previous research demonstrates a genetic and behavioural link between eating disorders and autism spectrum disorders, and a recent study (Coombs et al. in Br J Clin Psychol 50:326-338, 2011) extends this link to typical populations, showing a positive correlation between behaviours in typically developing children. The purpose of the present study was to examine whether this relationship continues beyond development, by studying the link between behaviours in a non-clinical adult population.
We examined associations between performance on measures relating to autistic traits and disordered eating. Undergraduate students, equally balanced by gender and by subject studied (i.e. humanity or science), completed three tasks: to measure autistic traits, participants were administered the Embedded Figures Test (EFT) and the Autism-Spectrum Quotient (AQ). Eating disorder symptomatology was measured by the Eating Attitudes Test (Eat-26).
Our data revealed a significant positive correlation between scores on the AQ and Eat-26. Multiple linear regressions showed that higher scores on the AQ were particularly associated with higher scores on the Bulimia & Food Preoccupation subscale of the Eat-26. EFT performance was positively related to behaviours associated with autism and eating disorders, although not reliably so.
These data support the broader link between autistic traits and disordered eating in the non-clinical population, and demonstrate that it extends into adulthood (a time at which autistic behaviours can decrease). This work carries implications for the development of cognitive therapies for people with eating disorders.
C1 [Carton, Amelia Myri; Smith, Alastair D.] Univ Nottingham, Sch Psychol, Nottingham NG7 2RD, England.
RP Smith, AD (reprint author), Univ Nottingham, Sch Psychol, Univ Pk, Nottingham NG7 2RD, England.
EM alastair.smith@nottingham.ac.uk
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NR 54
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1124-4909
EI 1590-1262
J9 EAT WEIGHT DISORD-ST
JI Eat. Weight Disord.-Stud. Anorex.
PD SEP
PY 2014
VL 19
IS 3
BP 285
EP 293
DI 10.1007/s40519-013-0086-z
PG 9
WC Psychiatry
SC Psychiatry
GA AO2UN
UT WOS:000341181600002
PM 24272141
ER
PT J
AU Diolordi, L
del Balzo, V
Bernabei, P
Vitiello, V
Donini, LM
AF Diolordi, Laura
del Balzo, Valeria
Bernabei, Paola
Vitiello, Valeria
Donini, Lorenzo Maria
TI Eating habits and dietary patterns in children with autism
SO EATING AND WEIGHT DISORDERS-STUDIES ON ANOREXIA BULIMIA AND OBESITY
LA English
DT Article
DE Eating behavior inventory; Food consumption; Children with autism;
Nutrition
ID SPECTRUM DISORDERS; BEHAVIOR; BRAIN
AB The children with autism have feeding problems such as chewing, preference for the same food that often are responsible for the nutrient imbalance. In this study, we have analyzed the differences in food consumption (food frequency) and eating behavior (CEBI test) between children with autism and their typically developing peers. A statistically significant difference was observed between the two groups for the consumption of milk, yogurt, pulses, rice, and fruit juices (p a parts per thousand currency sign 0,005). We observed a significant difference in the analysis of CEBI results when considering the 6- to 9.5-year-aged subgroup with autism vs control subgroup (103.50 and 110.14, respectively). The advices given by nutritionists have proved crucial to improve eating habits in children with autism, in the follow-up.
C1 [Diolordi, Laura; del Balzo, Valeria; Vitiello, Valeria; Donini, Lorenzo Maria] Univ Roma La Sapienza, Dept Expt Med, Res Unit Food Sci & Human Nutr, I-00185 Rome, Italy.
[Bernabei, Paola] Univ Roma La Sapienza, Dept Pediat & Pediat Neuropsychiat, I-00185 Rome, Italy.
RP del Balzo, V (reprint author), Univ Roma La Sapienza, Dept Expt Med, Res Unit Food Sci & Human Nutr, Ple Aldo Moro 5, I-00185 Rome, Italy.
EM valeria.delbalzo@uniroma1.it
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NR 22
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1124-4909
EI 1590-1262
J9 EAT WEIGHT DISORD-ST
JI Eat. Weight Disord.-Stud. Anorex.
PD SEP
PY 2014
VL 19
IS 3
BP 295
EP 301
DI 10.1007/s40519-014-0137-0
PG 7
WC Psychiatry
SC Psychiatry
GA AO2UN
UT WOS:000341181600003
PM 24981567
ER
PT J
AU Park, S
Park, JE
Cho, SC
Kim, BN
Shin, MS
Kim, JW
Cho, IH
Kim, SA
Park, M
Park, TW
Son, JW
Chung, US
Yoo, HJ
AF Park, Subin
Park, Jong-Eun
Cho, Soo-Churl
Kim, Bung-Nyun
Shin, Min-Sup
Kim, Jae-Won
Cho, In Hee
Kim, Soon Ae
Park, Mira
Park, Tae-Won
Son, Jung-Woo
Chung, Un-Sun
Yoo, Hee Jeong
TI No association of the norepinephrine transporter gene (SLC6A2) and
cognitive and behavioural phenotypes of patients with autism spectrum
disorder
SO EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE
LA English
DT Article
DE Autism spectrum disorder; SLC6A2; Haplotype; Phenotype
ID DEFICIT HYPERACTIVITY DISORDER; TOURETTES-SYNDROME; ADHD; NET
AB We examined the association between the norepinephrine transporter (SLC6A2) gene and autism spectrum disorder (ASD) in a Korean population. In addition, we investigated which phenotypes of ASD are best attributed to the genotype of SLC6A2. A total of 184 subjects with ASD, their 156 unaffected siblings and both biological parents were recruited through university hospitals. We used the Autism Diagnostic Interview-Revised, the Aberrant Behaviour Checklist (ABC), the Child Behaviour Checklist (CBCL), the Stroop Colour-Word Interference Test and the Wisconsin Card Sorting Test (WCST) as quantitative measures of the ASD phenotypes. The associations between the quantitative measures and specific single-nucleotide polymorphisms (SNPs) were tested with linear regression analyses. We did not find any evidence of the over-transmission of either allele of the 10SLC6A2 SNPs in the DFAM test. At an empirical p value < 0.05, findings that were consistent between the linear regression analyses and the QFAM tests were the positive associations between the A allele of rs36020 and attention problems on the CBCL and stereotypical behaviours on the ABC and between the C allele of rs1814270 and the number of trials required to complete the first WCST category. However, these associations did not remain after correction for multiple testing. The study results of this study do not support the association between the SLC6A2 and the diagnosis or phenotype of ASD. However, the study must be replicated in larger populations and with using more genetic markers.
C1 [Park, Subin; Cho, Soo-Churl; Kim, Bung-Nyun; Shin, Min-Sup; Kim, Jae-Won] Seoul Natl Univ, Coll Med, Dept Psychiat, Div Child & Adolescent Psychiat, Seoul, South Korea.
[Park, Jong-Eun; Yoo, Hee Jeong] Seoul Natl Univ, Bundang Hosp, Dept Neuropsychiat, Songnam, Gyeonggi Do, South Korea.
[Cho, In Hee] Samsung Child Dev Res Ctr, Dept Psychiat, Songnam, South Korea.
[Kim, Soon Ae] Eulji Univ, Dept Pharmacol, Sch Med, Songnam, South Korea.
[Park, Mira] Eulji Univ, Dept Prevent Med, Songnam, South Korea.
[Park, Tae-Won] Chonbuk Natl Univ Hosp, Dept Psychiat, Jeonju, South Korea.
[Son, Jung-Woo] Chungbuk Natl Univ Hosp, Dept Psychiat, Cheongju, South Korea.
[Chung, Un-Sun] Kyungpook Natl Univ Hosp, Dept Psychiat, Taegu, South Korea.
RP Yoo, HJ (reprint author), Seoul Natl Univ, Bundang Hosp, Dept Neuropsychiat, Songnam, Gyeonggi Do, South Korea.
EM hjyoo@snu.ac.kr
FU Korea Healthcare Technology R&D project, Ministry of Health & Welfare,
Republic of Korea [A120029]
FX This work was supported by the Korea Healthcare Technology R&D project,
Ministry of Health & Welfare, Republic of Korea [Grant Number A120029].
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NR 26
TC 1
Z9 1
PU SPRINGER HEIDELBERG
PI HEIDELBERG
PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY
SN 0940-1334
EI 1433-8491
J9 EUR ARCH PSY CLIN N
JI Eur. Arch. Psych. Clin. Neurosci.
PD SEP
PY 2014
VL 264
IS 6
BP 507
EP 515
DI 10.1007/s00406-013-0480-6
PG 9
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AN8UW
UT WOS:000340881500005
PM 24381062
ER
PT J
AU Soler-Alfonso, C
Carvalho, CMB
Ge, J
Roney, EK
Bader, PI
Kolodziejska, KE
Miller, RM
Lupski, JR
Stankiewicz, P
Cheung, SW
Bi, WM
Schaaf, CP
AF Soler-Alfonso, Claudia
Carvalho, Claudia M. B.
Ge, Jun
Roney, Erin K.
Bader, Patricia I.
Kolodziejska, Katarzyna E.
Miller, Rachel M.
Lupski, James R.
Stankiewicz, Pawel
Cheung, Sau Wai
Bi, Weimin
Schaaf, Christian P.
TI CHRNA7 triplication associated with cognitive impairment and
neuropsychiatric phenotypes in a three-generation pedigree
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE dosage sensitivity; copy number variation; cholinergic nervous system;
autism spectrum disorder
ID COPY NUMBER VARIANTS; GENOME-WIDE ANALYSIS; MENTAL-RETARDATION; 15Q13.3;
REARRANGEMENTS; DUPLICATION; RECURRENT; MICRODELETION; MECHANISMS;
SCHIZOPHRENIA
AB Although deletions of CHRNA7 have been associated with intellectual disability (ID), seizures and neuropsychiatric phenotypes, the pathogenicity of CHRNA7 duplications has been uncertain. We present the first report of CHRNA7 triplication. Three generations of a family affected with various neuropsychiatric phenotypes, including anxiety, bipolar disorder, developmental delay and ID, were studied with array comparative genomic hybridization (aCGH). High-resolution aCGH revealed a 650-kb triplication at chromosome 15q13.3 encompassing the CHRNA7 gene, which encodes the alpha7 subunit of the neuronal nicotinic acetylcholine receptor. A small duplication precedes the triplication at the proximal breakpoint junction, and analysis of the breakpoint indicates that the triplicated segment is in an inverted orientation with respect to the duplication. CHRNA7 triplication appears to occur by a replication-based mechanism that produces inverted triplications embedded within duplications. Co-segregation of the CHRNA7 triplication with neuropsychiatric and cognitive phenotypes provides further evidence for dosage sensitivity of CHRNA7.
C1 [Soler-Alfonso, Claudia] Univ Texas Hlth Sci Ctr Houston, Div Med Genet, Dept Pediat, Houston, TX 77030 USA.
[Carvalho, Claudia M. B.; Ge, Jun; Roney, Erin K.; Kolodziejska, Katarzyna E.; Lupski, James R.; Stankiewicz, Pawel; Cheung, Sau Wai; Bi, Weimin; Schaaf, Christian P.] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
[Carvalho, Claudia M. B.] Fiocruz MS, Ctr Pesquisas Rene Rachou, Belo Horizonte, MG, Brazil.
[Bader, Patricia I.; Miller, Rachel M.] Genet Ctr, Parkview Hlth Labs, Ft Wayne, IN USA.
[Lupski, James R.] Texas Childrens Hosp, Dept Pediat, Houston, TX 77030 USA.
[Schaaf, Christian P.] Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA.
RP Schaaf, CP (reprint author), Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, 1250 Moursund St,Suite 1350, Houston, TX 77030 USA.
EM Schaaf@bcm.edu
FU Doris Duke Clinical Scientist Development Award; NIH [HD037283]; US
National Institute of Neurological Disorders and Stroke [NS058529]
FX We are indebted to the family who participated in this study. Dr
Schaaf's work is generously supported by the Joan and Stanford Alexander
Family. Dr Schaaf is also a recipient of a Doris Duke Clinical Scientist
Development Award. NIH grant HD037283 supported Dr Ge's work in the
laboratory of Dr Arthur Beaudet. In addition, this work was supported in
part by US National Institute of Neurological Disorders and Stroke grant
NS058529 to JRL.
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NR 32
TC 3
Z9 3
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1018-4813
EI 1476-5438
J9 EUR J HUM GENET
JI Eur. J. Hum. Genet.
PD SEP
PY 2014
VL 22
IS 9
BP 1071
EP 1076
DI 10.1038/ejhg.2013.302
PG 6
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AN4SA
UT WOS:000340577600004
PM 24424125
ER
PT J
AU Wang, Y
Fang, YD
Zhang, FL
Xu, M
Zhang, JZ
Yan, JB
Ju, WN
Brown, WT
Zhong, N
AF Wang, Yu
Fang, Yudan
Zhang, Fengling
Xu, Miao
Zhang, Jingzhi
Yan, Jingbin
Ju, Weina
Brown, W. Ted
Zhong, Nanbert
TI Hypermethylation of the enolase gene (ENO2) in autism
SO EUROPEAN JOURNAL OF PEDIATRICS
LA English
DT Article
DE Autism; Neurodevelopment; Gene ENO2; Methylation; Epigenetics
ID MECP2 PROMOTER METHYLATION; REVEALS; SCHIZOPHRENIA; EXPRESSION;
BIOMARKERS; CORTEX; SERUM
AB It has been hypothesized that dysregulation of brain-expressed genes is the major predisposing underlying mechanism for autism. This dysregulation may be mediated by differential methylation of CpG sites within gene promoters, which could be candidate biomarkers and used for early clinical screening of autism. A total of 131 pairs of age- and sex-matched autistic and control subjects were recruited in this study. Peripheral blood cells were analyzed. The first five pairs were randomly applied to array-based genome-wide methylation studies. A neuron-specific gene, ENO2, was found to be hypermethylated in the autistic samples. This difference was validated by bisulfite sequencing PCR (BSP). The differential expression of ENO2 gene was further analyzed with RT-qPCR and ELISA. The hypermethylation of ENO2 within the promoter region was confirmed by BSP to be present in 14.5 % (19/131) of the total of the autistic samples. The mean ENO2 RNA level in these 19 autistic samples was reduced by about 70 % relative to that in controls. The average level of ENO2 protein expression in the 19 autistic samples (15.18 +/- 3.51 mu g/l) was about half of that in the controls (33.86 +/- 8.16 mu g/l). Conclusion: These findings suggest that reduced ENO2 expression may be a biomarker for a subset of autistic children.
C1 [Wang, Yu; Fang, Yudan; Xu, Miao; Zhang, Jingzhi; Yan, Jingbin; Zhong, Nanbert] Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Inst Med Genet, Shanghai 200040, Peoples R China.
[Wang, Yu; Zhang, Fengling; Zhong, Nanbert] Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Inst Children Hlth Care, Shanghai 200040, Peoples R China.
[Wang, Yu; Fang, Yudan; Xu, Miao; Zhang, Jingzhi; Yan, Jingbin; Zhong, Nanbert] Minist Hlth, Key Lab Embryo Mol Biol, Shanghai, Peoples R China.
[Wang, Yu; Fang, Yudan; Xu, Miao; Zhang, Jingzhi; Yan, Jingbin; Zhong, Nanbert] Shanghai Lab Embryo & Reprod Engn, Shanghai, Peoples R China.
[Zhong, Nanbert] Peking Univ, Ctr Med Genet, Beijing 100871, Peoples R China.
[Ju, Weina; Brown, W. Ted; Zhong, Nanbert] New York State Inst Basic Res Dev Disabil, New York, NY USA.
RP Zhong, N (reprint author), Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Inst Children Hlth Care, 1440 Beijing West Rd, Shanghai 200040, Peoples R China.
EM wy_rain@126.com; fangyudan@hotmail.com; zhangfl3985@126.com;
xumiao@shhildren.com.cn; zhangjz@shchildren.com.cn;
yanjingbin0130@hotmail.com; weina.ju@yahoo.com; ted.brown@opwdd.ny.gov;
nanbert.zhong@opwdd.ny.gov
FU National "973" program - Chinese Ministry of Science and Technology
[2012CB517905]; Shanghai Municipal Department of Science and Technology
[2009JC1412600]; Shanghai Municipal Health Bureau [2010Y151]; New York
State Office for People with Developmental Disabilities (OPWDD)
FX We thank the autism and control children and their parents for making
this study feasible. We are extremely grateful to Professors Yitao Zeng
and Shuzhen Huang (Shanghai Institute of Medical Genetics) for helpful
discussions. This study was supported in part by the National "973"
program (2012CB517905) granted from the Chinese Ministry of Science and
Technology, and funding from the Shanghai Municipal Department of
Science and Technology (2009JC1412600), Shanghai Municipal Health Bureau
(2010Y151), and New York State Office for People with Developmental
Disabilities (OPWDD).
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NR 31
TC 1
Z9 1
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0340-6199
EI 1432-1076
J9 EUR J PEDIATR
JI Eur. J. Pediatr.
PD SEP
PY 2014
VL 173
IS 9
BP 1233
EP 1244
DI 10.1007/s00431-014-2311-9
PG 12
WC Pediatrics
SC Pediatrics
GA AN5ZU
UT WOS:000340673300014
PM 24737292
ER
PT J
AU Del Giudice, M
Klimczuk, ACE
Traficonte, DM
Maestripieri, D
AF Del Giudice, Marco
Klimczuk, Amanda C. E.
Traficonte, Daniel M.
Maestripieri, Dario
TI Autistic-like and schizotypal traits in a life history perspective:
diametrical associations with impulsivity, sensation seeking, and
sociosexual behavior
SO EVOLUTION AND HUMAN BEHAVIOR
LA English
DT Article
DE Autistic-like traits; Diametrical model; Impulsivity; Life history
strategy; Schizotypal traits; Sexual selection; Sociosexuality
ID SPECTRUM QUOTIENT AQ; MALE BRAIN THEORY; PHENOTYPIC PLASTICITY;
GENERAL-POPULATION; GENETIC-VARIATION; SEX-DIFFERENCES; PERSONALITY;
SCHIZOPHRENIA; DISORDER; CREATIVITY
AB According to recent theoretical models, autistic-like and schizotypal traits can be regarded as opposite sides of a single continuum of variation in personality and cognition, and may be diametrically associated with individual differences in life history strategies. In this view, schizotypy is a psychological phenotype oriented toward high mating effort and reduced parenting, consistent with a fast life history strategy, whereas autistic-like traits contribute to a slow strategy characterized by reduced mating effort and high parental investment. In this study, we tested the hypothesis that autistic-like and schizotypal traits would be diametrically associated with unrestricted sociosexuality, impulsivity, and sensation seeking (three key behavioral correlates of fast life history strategies in humans) in a sample of 152 young adults (18-38 years). The results were consistent with a diametrical autism-schizotypy axis of individual variation. In line with our hypotheses, autism-schizotypy scores were uniquely associated with individual differences in impulsivity, sensation seeking, and sociosexual behavior, even after controlling for variation in Big Five personality traits. However, we found no significant associations with sociosexual attitude in the present sample. Our findings provide additional support for a life history model of autistic-like and schizotypal traits and demonstrate the heuristic value of this approach in the study of personality and psychopathology. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Del Giudice, Marco] Univ New Mexico, Dept Psychol, Albuquerque, NM 87131 USA.
[Klimczuk, Amanda C. E.; Maestripieri, Dario] Univ Chicago, Inst Mind & Biol, Chicago, IL 60637 USA.
[Traficonte, Daniel M.] Univ Chicago, Ctr Global Hlth, Chicago, IL 60637 USA.
RP Del Giudice, M (reprint author), Univ New Mexico, Dept Psychol, Logan Hall,2001 Redondo Dr NE, Albuquerque, NM 87131 USA.
EM marcodg@unm.edu
RI Del Giudice, Marco/F-7007-2010
OI Del Giudice, Marco/0000-0001-8526-1573
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NR 77
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1090-5138
EI 1879-0607
J9 EVOL HUM BEHAV
JI Evol. Hum. Behav.
PD SEP
PY 2014
VL 35
IS 5
BP 415
EP 424
DI 10.1016/j.evolhumbehav.2014.05.007
PG 10
WC Psychology, Biological; Behavioral Sciences; Social Sciences, Biomedical
SC Psychology; Behavioral Sciences; Biomedical Social Sciences
GA AN6EG
UT WOS:000340687100009
ER
PT J
AU Buchanan, R
Beckett, RD
AF Buchanan, Rachel
Beckett, Robert D.
TI Assessment of vaccination-related information for consumers available on
Facebook (R)
SO HEALTH INFORMATION AND LIBRARIES JOURNAL
LA English
DT Article
DE consumer health information; health information needs; information
seeking behaviour; social media; social networking
ID PERTUSSIS; VACCINES; RUBELLA; AUTISM
AB Objectives: To assess the magnitude, interest, purpose and validity of vaccination-related information on Facebook and to determine whether information varies by site viewpoint.
Methods: The 10 largest vaccination-focused Facebook (R) pages, groups and places in each category were identified and classified by viewpoint (i.e. anti-, pro-, neutral) and purpose. Number of members, posts per week, likes, comments and shares per post were recorded. Posts were assessed for concordance with CDC and FDA recommendations.
Results: Of 30 sites, 43% (n = 13) were anti-vaccination, 7% (n = 2) neutral and 50% (n = 15) pro-vaccination. Most sites were most popular with American users. Median members were similar between anti-vaccination (2703 members, range 337-33 631 members) and pro-vaccination sites (2142 members, range 456-61 565 members, P = 0.262); however, anti-vaccination sites accumulated more posts per week by authors (median 15 vs. 3, P = 0.031) and members (median 33 vs. 1, P < 0.001). Pro-vaccination sites more commonly had commercial purpose (53% [n = 8] vs. 8% [n = 1], P = 0.02). Anti-vaccination sites more commonly gave medical advice (54% [n = 7] vs. 0%, P = 0.004). Overall, 48% (n = 22) of author posts were concordant with regulatory recommendations; concordance was more common on pro-vaccination sites (78% [n = 21] vs. 5% [n = 1], P = 0.0002).
Conclusion: Vaccination-related information is prevalent on Facebook regardless of viewpoint; however, anti-vaccination information generates more interest. Anti-vaccination sites were likely to provide medical advice and disagree with regulatory bodies.
C1 [Buchanan, Rachel] William S Middleton Mem Vet Adm Med Ctr, Madison, WI USA.
[Beckett, Robert D.] Univ Manchester, Coll Pharm, Ft Wayne, IN 46845 USA.
RP Beckett, RD (reprint author), Univ Manchester, Coll Pharm, 10627 Diebold Rd, Ft Wayne, IN 46845 USA.
EM rdbeckett@manchester.edu
CR [Anonymous], NEWSR KEY FACTS
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The College of Physicians of Philadelphia, HIST VACC
NR 15
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1471-1834
EI 1471-1842
J9 HEALTH INFO LIBR J
JI Heatlth Info. Libr. J.
PD SEP
PY 2014
VL 31
IS 3
BP 227
EP 234
DI 10.1111/hir.12073
PG 8
WC Information Science & Library Science
SC Information Science & Library Science
GA AO2KV
UT WOS:000341151500006
PM 25041499
ER
PT J
AU Micheau, J
Vimeney, A
Normand, E
Mulle, C
Riedel, G
AF Micheau, Jacques
Vimeney, Alice
Normand, Elisabeth
Mulle, Christophe
Riedel, Gernot
TI Impaired Hippocampus-Dependent Spatial Flexibility and Sociability
Represent Autism-Like Phenotypes in GluK2 Mice
SO HIPPOCAMPUS
LA English
DT Article
DE GluK2 KO mice; autism spectrum disorder; social behavior; behavioral
flexibility; spatial learning; pattern separation/completion; water maze
ID FAMILY-BASED ASSOCIATION; MOSSY FIBER SYNAPSES; GLUTAMATE-RECEPTOR-6
GENE; SPECTRUM DISORDERS; PATTERN SEPARATION; KAINATE RECEPTORS;
GLUR6-DEFICIENT MICE; GRIK2 POLYMORPHISMS; BASAL GANGLIA; MEMORY
AB Autism is a complex neurodevelopmental disorder with high heritability. grik2 (which encodes the GluK2 subunit of kainate receptors) has been identified as a susceptibility gene in Autism Spectrum Disorders (ASD), but its role in the core and associated symptoms of ASD still remains elusive. We used mice lacking GluK2 (GluK2 KO) to examine their endophenotype with a view to modeling aspects of autism, including social deficits, stereotyped and repetitive behavior and decreased cognitive abilities. Anxiety was recorded in the elevated plus maze, social behavior in a three-chamber apparatus, and cognition in different water maze protocols. Deletion of the GluK2 gene reduced locomotor activity and sociability as indicated by the social interaction task. In addition, GluK2 KO mice learnt to locate a hidden platform in a water maze surrounded by a curtain with hanging cues faster than wild-type mice. They maintained a bias toward the target quadrant when some of these cues were removed, at which point wild-types orthogonalized the behavior and showed no memory. However, GluK2 KO mice were impaired in spatial reversal learning. These behavioral data together with previously published electrophysiology showing severe anomalies in CA3 network activity, suggest a computational shift in this network for enhanced propensity of pattern completion that would explain the loss of behavioral flexibility in GluK2 KO mice. Although a single mutation cannot recapitulate the entire core symptoms of ASD, our data provide evidence for glutamatergic dysfunction underlying a number of social-and cognition-related phenotypes relevant to ASD. (C) 2014 Wiley Periodicals, Inc.
C1 [Micheau, Jacques] Univ Bordeaux, INCIA, CNRS, UMR 5287, F-33405 Talence, France.
[Vimeney, Alice; Normand, Elisabeth; Mulle, Christophe] Univ Bordeaux, Inst Interdisciplinaire Neurosci, CNRS, UMR 5297, F-33077 Bordeaux, France.
[Riedel, Gernot] Univ Aberdeen, Sch Med Sci, Aberdeen AB25 2ZD, Scotland.
RP Micheau, J (reprint author), Univ Bordeaux, INCIA, CNRS, UMR 5287, Ave Fac, F-33405 Talence, France.
EM jacques.micheau@u-bordeaux1.fr
FU Centre National de la Recherche Scientifique; Universite de Bordeaux
FX This study was supported by the Centre National de la Recherche
Scientifique and Universite de Bordeaux. We thank D. Panzeri, N. Argenta
and J. Huard for animal care.
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AF Evans, Bonnie
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LA English
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RP Evans, B (reprint author), Univ London, London WC1E 7HU, England.
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PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
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BP 381
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Konrad, K
AF Freitag, Christine M.
Konrad, Kerstin
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LA English
DT Editorial Material
C1 [Freitag, Christine M.] Goethe Univ Frankfurt, Univ Hosp, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60054 Frankfurt, Germany.
[Konrad, Kerstin] Rhein Westfal TH Aachen, Univ Hosp, Dept Child & Adolescent Psychiat Psychosomat & Ps, Child Neuropsychol Sect, D-52062 Aachen, Germany.
[Konrad, Kerstin] Res Ctr Juelich, Inst Neurosci & Med INM 3, Julich, Germany.
RP Freitag, CM (reprint author), Goethe Univ Frankfurt, Univ Hosp, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60054 Frankfurt, Germany.
EM C.Freitag@em.uni-frankfurt.de; kkonrad@ukaachen.de
RI Konrad, Kerstin/H-7747-2013
OI Konrad, Kerstin/0000-0001-9039-2615
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American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
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PD SEP
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SI SI
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UT WOS:000341096400001
PM 25023161
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PT J
AU Chiocchetti, AG
Bour, HS
Freitag, CM
AF Chiocchetti, Andreas G.
Bour, Hanna S.
Freitag, Christine M.
TI Glutamatergic candidate genes in autism spectrum disorder: an overview
SO JOURNAL OF NEURAL TRANSMISSION
LA English
DT Article
DE ASD; Genetic studies; Glutamtergic pathway; Review
ID PERVASIVE DEVELOPMENTAL DISORDERS; DE-NOVO MUTATIONS; FAMILY-BASED
ASSOCIATION; COPY-NUMBER VARIATION; FRAGILE-X-SYNDROME;
GENOTYPE-PHENOTYPE CORRELATIONS; RUBINSTEIN-TAYBI SYNDROME; LONG-TERM
POTENTIATION; GENOME-WIDE LINKAGE; MENTAL-RETARDATION
AB Autism spectrum disorders (ASD) are neurodevelopmental disorders with early onset in childhood. Most of the risk for ASD can be explained by genetic variants that act in interaction with biological environmental risk factors. However, the architecture of the genetic components is still unclear. Genetic studies and subsequent systems biological approaches described converging functional effects of identified genes towards pathways relevant for neuronal signalling. Mouse models suggest an aberrant synaptic plasticity at the neuropathological level, which is believed to be conferred by dysregulation of long-term potentiation or depression of neuronal connections. A central pathway regulating these mechanisms is glutamatergic signalling. Here, we hypothesized that susceptibility genes for ASD are enriched for components of this pathway. To further understand the impact of ASD risk genes on the glutamatergic pathway, we performed a systematic review using the literature database "pubmed" and the "AutismKB" knowledgebase. We provide an overview of the glutamatergic system in typical brain function and development, and summarize findings from linkage, association, copy number variants, and sequencing studies in ASD to provide a comprehensive picture of the glutamatergic landscape of ASD genetics. Genetic variants associated with ASD were enriched in glutamatergic pathways, affecting receptor signalling, metabolism and transport. Furthermore, in genetically modified mouse models for ASD, pharmacological compounds acting on ionotropic or metabotropic receptor activity are able to rescue ASD reminscent phenotypes. We conclude that glutamatergic genetic risk factors for ASD show a complex pattern and further studies are needed to fully understand its mechanisms, before translation of findings into clinical applications and individualized treatment approaches will be possible.
C1 [Chiocchetti, Andreas G.; Bour, Hanna S.; Freitag, Christine M.] Goethe Univ Frankfurt, Univ Hosp Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60528 Frankfurt, Germany.
RP Chiocchetti, AG (reprint author), Goethe Univ Frankfurt, Univ Hosp Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, Deutschordenstr 50, D-60528 Frankfurt, Germany.
EM andreas.chiocchetti@kgu.de
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NR 197
TC 0
Z9 0
PU SPRINGER WIEN
PI WIEN
PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
JI J. Neural Transm.
PD SEP
PY 2014
VL 121
IS 9
SI SI
BP 1081
EP 1106
DI 10.1007/s00702-014-1161-y
PG 26
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO1TB
UT WOS:000341096400002
PM 24493018
ER
PT J
AU Waltes, R
Gfesser, J
Haslinger, D
Schneider-Momm, K
Biscaldi, M
Voran, A
Freitag, CM
Chiocchetti, AG
AF Waltes, Regina
Gfesser, Johannes
Haslinger, Denise
Schneider-Momm, Katja
Biscaldi, Monica
Voran, Anette
Freitag, Christine M.
Chiocchetti, Andreas G.
TI Common EIF4E variants modulate risk for autism spectrum disorders in the
high-functioning range
SO JOURNAL OF NEURAL TRANSMISSION
LA English
DT Article
DE Association analysis; Transmission disequilibrium testing; Common
variant; High-functioning autism; Repetitive behaviour
ID FRAGILE-X-SYNDROME; PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC
INTERVIEW; GENETIC-VARIANTS; GERMAN FORM; TRANSLATION; ASSOCIATION;
RELIABILITY; BEHAVIORS; MUTATIONS
AB The genetic architecture of Autism Spectrum Disorders (ASD) is complex. Common genetic variation has especially been related to high-functioning ASD. In addition, some studies favoured analysis of strictly diagnosed autism individuals, which resulted in more robust findings than the combined analysis of all spectrum individuals. Functional variants modulating EIF4E expression have previously been indicated as risk factors for ASD. Pharmacological modulation of glutamate receptors which regulate EIF4E activity resulted in reduced repetitive behaviours in human and animal studies. Based on these findings, we tested common EIF4E variants for association with overall ASD, with strict autism and with the strict high-functioning autism (strict HFA) subgroup, and their effect on repetitive and/or stereotypic behaviour. We observed over-transmission of rs13109000G in the strict HFA and the strict autism cohort but not in the larger ASD cohort. We report protective effects for the minor allele of rs4699369T on stereotyped and ritualized behaviour in the overall ASD cohort, the strict autism but not in the strict HFA group. In addition, a protective role for rs4699369T and a risk effect of rs12498533G on hand and finger mannerisms was observed. These results need to be replicated in larger ASD and strict autism samples. The predicted impact on transcription through the ASD associated EIF4E variants rs4699369T and rs12498533G as well as the association of the EIF4E interaction partners FMRP and CYFIP1 with ASD point to an mRNA mediated pathomechanism for ASD.
C1 [Waltes, Regina; Gfesser, Johannes; Haslinger, Denise; Freitag, Christine M.; Chiocchetti, Andreas G.] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat, D-60528 Frankfurt, Germany.
[Schneider-Momm, Katja; Biscaldi, Monica] Univ Hosp Freiburg, Dept Child & Adolescent Psychiat, D-79104 Freiburg, Germany.
[Voran, Anette] Saarland Univ Hosp, Dept Child & Adolescent Psychiat, D-66421 Homburg, Germany.
RP Chiocchetti, AG (reprint author), Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat, D-60528 Frankfurt, Germany.
EM andreas.chiocchetti@kgu.de
FU Saarland University [T6 03 10 00-45]; European Union; Bundesministerium
fur Bildung und Forschung (ERA-NET NEURON project)
[EUHF-AUTISM-01EW1105]; Landes-Offensive zur Entwicklung
wissenschaftlich okonomischer Exzellenz (LOEWE): Neuronal Coordination
Research Focus Frankfurt (NeFF)
FX We thank all patients and their families for taking part in this study.
In addition, we thoroughly thank Silvia Lindlar and Hiacynta Jelen for
excellent technical assistance and Heiko Zerlaut and Rusico Weber for
database management. This work was supported by the Saarland University
(T6 03 10 00-45 to C. M. F.), the European Union and the
Bundesministerium fur Bildung und Forschung (ERA-NET NEURON project:
EUHF-AUTISM-01EW1105 to C. M. F.); and the Landes-Offensive zur
Entwicklung wissenschaftlich okonomischer Exzellenz (LOEWE): Neuronal
Coordination Research Focus Frankfurt (NeFF to C.M.F.).
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NR 51
TC 1
Z9 1
PU SPRINGER WIEN
PI WIEN
PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
JI J. Neural Transm.
PD SEP
PY 2014
VL 121
IS 9
SI SI
BP 1107
EP 1116
DI 10.1007/s00702-014-1230-2
PG 10
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO1TB
UT WOS:000341096400003
PM 24818597
ER
PT J
AU Taurines, R
Segura, M
Schecklmann, M
Albantakis, L
Grunblatt, E
Walitza, S
Jans, T
Lyttwin, B
Haberhausen, M
Theisen, FM
Martin, B
Briegel, W
Thome, J
Schwenck, C
Romanos, M
Gerlach, M
AF Taurines, Regina
Segura, Monica
Schecklmann, Martin
Albantakis, Laura
Gruenblatt, Edna
Walitza, Susanne
Jans, Thomas
Lyttwin, Benjamin
Haberhausen, Michael
Theisen, Frank M.
Martin, Berthold
Briegel, Wolfgang
Thome, Johannes
Schwenck, Christina
Romanos, Marcel
Gerlach, Manfred
TI Altered peripheral BDNF mRNA expression and BDNF protein concentrations
in blood of children and adolescents with autism spectrum disorder
SO JOURNAL OF NEURAL TRANSMISSION
LA English
DT Article
DE Autism spectrum disorder (ASD); Brain-derived neurotrophic factor
(BDNF); ADHD; Neurodevelopmental disorders; Peripheral expression
ID NEUROTROPHIC FACTOR BDNF; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
DEFICIT-HYPERACTIVITY DISORDER; GEL-BASED MICROARRAY;
MENTAL-RETARDATION; EXECUTIVE DYSFUNCTION; DEPRESSED-PATIENTS; HUMAN
PLATELETS; WORKING-MEMORY; SERUM-LEVELS
AB Findings from molecular genetic studies and analyses of postmortem and peripheral tissue led to the hypothesis that neurotrophins-as crucial moderators of neuroplasticity-impact on the pathophysiology of autism spectrum disorder (ASD). The study projects aimed to complement former results on the role of brain-derived neurotrophic factor (BDNF), a member of the neurotrophin family with fundamental impact on brain development and function. The purpose of this work was to investigate peripheral BDNF mRNA expression and BDNF protein concentrations in ASD as potential surrogates for the effects observed in the central nervous system. In a BDNF protein quantification study, serum concentrations were analyzed using Enzyme-Linked Immunosorbent Assays in 24 male patients with ASD, all with an IQ > 70 (age 13.9 +/- A 3.0 years) and 20 age- and gender-matched healthy control subjects (age 14.4 +/- A 2.1 years; p = 0.522). In a further independent project, a BDNF mRNA expression analysis, mRNA levels from total blood were assessed by quantitative real-time polymerase chain reaction in a sample of 16 male ASD patients (age 10.8 +/- A 2.2), 15 age- and gender-matched healthy controls (age 12.1 +/- A 2.2) and 15 patients with attention deficit hyperactivity disorder as a clinical control group (age 11.8 +/- A 2.2; p = 0.207). In the protein quantification project, significantly decreased BDNF serum concentrations were found in ASD cases compared to healthy control children (t = -2.123, df = 42, p < 0.05). Analysis of covariance (ANCOVA) revealed this result in accordance with significant reductions in BDNF mRNA expression in ASD, observed in the mRNA expression study (F = 3.65; df = 2.43; p < 0.05); neither age nor IQ confounded the result, as indicated by ANCOVA (F = 3.961; df = 2.41; p < 0.05, eta (2) = 0.162). Our study projects supported the notion that neurotrophins are involved in the pathophysiology of ASD. Further studies may eventually contribute to the identification of distinct peripheral mRNA expression and protein concentration patterns possibly supporting diagnostic and therapeutic processes.
C1 [Taurines, Regina; Albantakis, Laura; Jans, Thomas; Lyttwin, Benjamin; Martin, Berthold; Romanos, Marcel; Gerlach, Manfred] Univ Wurzburg, Dept Child & Adolescent Psychiat, D-97080 Wurzburg, Germany.
[Segura, Monica] Univ Int Catalunya, Fac Med & Hlth Sci, Barcelona, Spain.
[Schecklmann, Martin] Univ Regensburg, Dept Psychiat & Psychotherapy, D-93053 Regensburg, Germany.
[Gruenblatt, Edna; Walitza, Susanne] Univ Zurich, Dept Child & Adolescent Psychiat, Zurich, Switzerland.
[Haberhausen, Michael] Univ Marburg, Dept Child & Adolescent Psychiat, Marburg, Germany.
[Theisen, Frank M.] Herz Jesu Krankenhaus, Dept Child & Adolescent Psychiat, Fulda, Germany.
[Briegel, Wolfgang] Leopoldina Hosp, Dept Child & Adolescent Psychiat, Schweinfurt, Germany.
[Thome, Johannes] Univ Rostock, Dept Psychiat & Psychotherapy, D-18055 Rostock, Germany.
[Thome, Johannes] Swansea Univ, Coll Med, Swansea, W Glam, Wales.
[Schwenck, Christina] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat, Frankfurt, Germany.
RP Taurines, R (reprint author), Univ Wurzburg, Dept Child & Adolescent Psychiat, Fuechsleinstr 15, D-97080 Wurzburg, Germany.
EM taurines@kjp.uni-wuerzburg.de
FU Actelion; AstraZeneca; Bristol-Meyers Squibb; Ever Neuro Pharma;
Janssen-Cilag; Lilly; Lundbeck; Medice Arzneimittel Putter; Merz
Pharmaceuticals; Novartis Pharma; Pfizer Pharma; Roche; Servier; Shire;
Swiss National Science Foundation (SNF); Deutsche
Forschungsgemeinschaft; EU FP7; HSM Hochspezialisierte Medizin of the
Kanton Zurich, Switzerland
FX J. T. has obtained financial support (e. g. lecture honoraria, grants
for research projects and scientific meetings, advisory-board
membership) from Actelion, AstraZeneca, Bristol-Meyers Squibb, Ever
Neuro Pharma, Janssen-Cilag, Lilly, Lundbeck, Medice Arzneimittel
Putter, Merz Pharmaceuticals, Novartis Pharma, Pfizer Pharma, Roche,
Servier, Shire. Some of these companies manufacture drugs used in the
treatment of ADHD and ASD. S. W. has received lecture honoraria from
Janssen Cilag, AstraZeneca and Eli Lilly in the last 5 years. Her work
was partially supported in the last 5 years by the Swiss National
Science Foundation (SNF), Deutsche Forschungsgemeinschaft, EU FP7, HSM
Hochspezialisierte Medizin of the Kanton Zurich, Switzerland. All other
authors have no competing interests.
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NR 98
TC 3
Z9 3
PU SPRINGER WIEN
PI WIEN
PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
JI J. Neural Transm.
PD SEP
PY 2014
VL 121
IS 9
SI SI
BP 1117
EP 1128
DI 10.1007/s00702-014-1162-x
PG 12
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO1TB
UT WOS:000341096400004
PM 24500031
ER
PT J
AU Luckhardt, C
Jarczok, TA
Bender, S
AF Luckhardt, C.
Jarczok, T. A.
Bender, S.
TI Elucidating the neurophysiological underpinnings of autism spectrum
disorder: new developments
SO JOURNAL OF NEURAL TRANSMISSION
LA English
DT Article
DE Autism; Visual event-related potential; Mirror neuron; Connectivity;
Transcranial magnetic stimulation; Excitation; Inhibition
ID TRANSCRANIAL MAGNETIC STIMULATION; EVENT-RELATED POTENTIALS;
FRAGILE-X-SYNDROME; MIRROR NEURON DYSFUNCTION; VISUAL-EVOKED POTENTIALS;
HIGH-FUNCTIONING AUTISM; EEG MU-RHYTHM; FACE PERCEPTION; YOUNG-CHILDREN;
INTERSTIMULUS VARIANCE
AB The study of neurophysiological approaches together with rare and common risk factors for Autism Spectrum Disorder (ASD) allows elucidating the specific underlying neurobiology of ASD. Whereas most neurophysiologically based research in ASD to date has focussed on case-control differences based on the DSM- or ICD-based categorical ASD diagnosis, more recent studies have aimed at studying genetically and/or neurophysiologically defined homogeneous ASD subgroups for specific neuronal biomarkers. This review addresses the neurophysiological investigation of ASD by evoked and event-related potentials, by EEG/MEG connectivity measures such as coherence, and transcranial magnetic stimulation. As an example of classical neurophysiological studies in ASD, we report event-related potential studies which have illustrated which brain areas and processing stages are affected in the visual perception of socially relevant stimuli. However, a paradigm shift has taken place in recent years focussing on how these findings can be tracked down to basic neuronal functions such as deficits in cortico-cortical connectivity and the interaction between brain areas. Disconnectivity, for example, can again be related to genetically induced shifts in the excitation/inhibition balance. Genetic causes of ASD may be grouped by their effects on the brain's system level to identify ASD subgroups which respond differentially to therapeutic interventions.
C1 [Luckhardt, C.; Jarczok, T. A.; Bender, S.] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat, D-60528 Frankfurt, Germany.
RP Luckhardt, C (reprint author), Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat, Deutschordenstr 50, D-60528 Frankfurt, Germany.
EM Christina.Luckhardt@kgu.de
FU German Research Foundation DFG (Deutsche Forschungsgemeinschaft)
[FR2069/2-1]; LOEWE programme, Neuronal Coordination Research Focus
Frankfurt (NeFF) [B1]
FX We would like to thank Dr. Susanne Raisig for proofreading our
manuscript. This work was supported by grant FR2069/2-1 of the German
Research Foundation DFG (Deutsche Forschungsgemeinschaft) to C. M. F.,
and the LOEWE programme, Neuronal Coordination Research Focus Frankfurt
(NeFF), project B1, to S.B. and C.M.F.
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NR 130
TC 1
Z9 1
PU SPRINGER WIEN
PI WIEN
PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
JI J. Neural Transm.
PD SEP
PY 2014
VL 121
IS 9
SI SI
BP 1129
EP 1144
DI 10.1007/s00702-014-1265-4
PG 16
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO1TB
UT WOS:000341096400005
PM 25059455
ER
PT J
AU Ambrosino, S
Bos, DJ
van Raalten, TR
Kobussen, NA
van Belle, J
Oranje, B
Durston, S
AF Ambrosino, S.
Bos, D. J.
van Raalten, T. R.
Kobussen, N. A.
van Belle, J.
Oranje, B.
Durston, S.
TI Functional connectivity during cognitive control in children with autism
spectrum disorder: an independent component analysis
SO JOURNAL OF NEURAL TRANSMISSION
LA English
DT Article
DE ASD; Functional connectivity; ICA; Cognitive control; Rigid behavior
ID INHIBITORY CONTROL; FMRI DATA; NETWORK CONNECTIVITY; REPETITIVE
BEHAVIOR; DIAGNOSTIC INTERVIEW; RESPONSE-INHIBITION; WORKING-MEMORY;
DEFAULT-MODE; MRI DATA; ACTIVATION
AB Restrictive and repetitive behavior in autism may be related to deficits in cognitive control. Here, we aimed to assess functional connectivity during a cognitive control task and compare brain network activity and connectivity in children with autism spectrum disorders (ASD) and typically developing children using a multivariate data-driven approach. 19 high-functioning boys with ASD and 19 age-matched typically developing boys were included in this study. Functional magnetic resonance imaging was performed at 3T during the performance of a cognitive control task (go/no-go paradigm). Functional networks were identified using independent component analysis. Network activity and connectivity was compared between groups and correlated with clinical measures of rigid behavior using multivariate analysis of covariance. We found no differences between the groups in task performance or in network activity. Power analysis indicated that, if this were a real difference, it would require nearly 800 subjects to show group differences in network activity using this paradigm. Neither were there correlations between network activity and rigid behavior. Our data do not provide support for the presence of deficits in cognitive control in children with ASD, or the functional networks supporting this ability.
C1 [Ambrosino, S.; Bos, D. J.; van Raalten, T. R.; Kobussen, N. A.; van Belle, J.; Oranje, B.; Durston, S.] Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, NICHE Lab, Dept Psychiat, NL-3584 CX Utrecht, Netherlands.
RP Ambrosino, S (reprint author), Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, NICHE Lab, Dept Psychiat, HP A-01-126,Heidelberglaan 100, NL-3584 CX Utrecht, Netherlands.
EM S.AmbrosinodiBruttopilo-3@umcutrecht.nl
FU Hersenstichting Nederland [F2009(1)-17]
FX The authors would like to thank all the participants and their families
of this study. We wish to thank Juliette Weusten for the assistance with
subject recruitment and MRI assessment. This work was financially
supported by the Hersenstichting Nederland, grant number F2009(1)-17.
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NR 63
TC 0
Z9 0
PU SPRINGER WIEN
PI WIEN
PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
JI J. Neural Transm.
PD SEP
PY 2014
VL 121
IS 9
SI SI
BP 1145
EP 1155
DI 10.1007/s00702-014-1237-8
PG 11
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO1TB
UT WOS:000341096400006
PM 24845879
ER
PT J
AU Ecker, C
Shahidiani, A
Feng, Y
Daly, E
Murphy, C
D'Almeida, V
Deoni, S
Williams, SC
Gillan, N
Gudbrandsen, M
Wichers, R
Andrews, D
Van Hemert, L
Murphy, DGM
AF Ecker, C.
Shahidiani, A.
Feng, Y.
Daly, E.
Murphy, C.
D'Almeida, V.
Deoni, S.
Williams, S. C.
Gillan, N.
Gudbrandsen, M.
Wichers, R.
Andrews, D.
Van Hemert, L.
Murphy, D. G. M.
TI The effect of age, diagnosis, and their interaction on vertex-based
measures of cortical thickness and surface area in autism spectrum
disorder
SO JOURNAL OF NEURAL TRANSMISSION
LA English
DT Article
DE Autism; Neuroanatomy; Cortical thickness; Surface area; Neurodevelopment
ID COORDINATE SYSTEM; BRAIN OVERGROWTH; PROGENITOR CELLS; CEREBRAL-CORTEX;
MRI; CHILDREN; ADOLESCENCE; ANATOMY; ADULTS; REPRESENTATION
AB Autism spectrum disorder (ASD) is a lifelong neurodevelopmental condition that is accompanied by an atypical development of brain maturation. So far, brain development has mainly been studied during early childhood in ASD, and using measures of total or lobular brain volume. However, cortical volumetric measures are a product of two distinct biological neuroanatomical features, cortical thickness, and surface area, which most likely also have different neurodevelopmental trajectories in ASD. Here, we therefore examined age-related differences in cortical thickness and surface area in a cross-sectional sample of 77 male individuals with ASD ranging from 7 to 25 years of age, and 77 male neurotypical controls matched for age and FSIQ. Surface-based measures were analyzed using a general linear model (GLM) including linear, quadratic, and cubic age terms, as well as their interactions with the main effect of group. When controlling for the effects of age, individuals with ASD had spatially distributed reductions in cortical thickness relative to controls, particularly in fronto-temporal regions, and also showed significantly reduced surface area in the prefrontal cortex and the anterior temporal lobe. We also observed significant group x age interactions for both measures. However, while cortical thickness was best predicted by a quadratic age term, the neurodevelopmental trajectory for measures of surface area was mostly linear. Our findings suggest that ASD is accompanied by age-related and region-specific reductions in cortical thickness and surface area during childhood and early adulthood. Thus, differences in the neurodevelopmental trajectory of maturation for both measures need to be taken into account when interpreting between-group differences overall.
C1 [Ecker, C.; Shahidiani, A.; Feng, Y.; Daly, E.; Murphy, C.; D'Almeida, V.; Gillan, N.; Gudbrandsen, M.; Wichers, R.; Andrews, D.; Murphy, D. G. M.] Kings Coll London, Inst Psychiat, Dept Forens & Neurodev Sci, London SE5 8AF, England.
[Ecker, C.; Shahidiani, A.; Feng, Y.; Daly, E.; Murphy, C.; D'Almeida, V.; Gillan, N.; Gudbrandsen, M.; Wichers, R.; Andrews, D.; Murphy, D. G. M.] Kings Coll London, Inst Psychiat, Sackler Inst Translat Neurodev Sci, London SE5 8AF, England.
[Deoni, S.] Brown Univ, Sch Engn, Adv Baby Imaging Lab, Providence, RI 02912 USA.
[Williams, S. C.; Van Hemert, L.] Kings Coll London, Inst Psychiat, Ctr Neuroimaging Sci, London SE5 8AF, England.
RP Ecker, C (reprint author), Kings Coll London, Inst Psychiat, Dept Forens & Neurodev Sci, London SE5 8AF, England.
EM christine.ecker@kcl.ac.uk
RI Williams, Steve/D-6979-2011; Ecker, Christine/E-5194-2010
FU Medical Research Council UK [G0400061, G0800298]; Dr. Mortimer and
Theresa Sackler Foundation; EU-AIMS project (European Autism
Interventions-a Multicentre Study for developing New Medications) from
the Innovative Medicines Initiative Joint Undertaking [115300]; EU; NIHR
Biomedical Research Centre for Mental Health at King's College London,
Institute of Psychiatry; South London & Maudsley NHS Foundation Trust
FX This work was supported (1) by the Medical Research Council UK (G0400061
and G0800298), (2) by the Dr. Mortimer and Theresa Sackler Foundation,
(3) by the EU-AIMS project (European Autism Interventions-a Multicentre
Study for developing New Medications) receiving support from the
Innovative Medicines Initiative Joint Undertaking under grant agreement
no. 115300, which includes financial contributions from the EU Seventh
Framework Programme (FP7/2007-2013), (4) by the NIHR Biomedical Research
Centre for Mental Health at King's College London, Institute of
Psychiatry, and (5) by the South London & Maudsley NHS Foundation Trust.
We are also grateful to those who agreed to be scanned and who gave
their time so generously to this study.
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NR 57
TC 2
Z9 2
PU SPRINGER WIEN
PI WIEN
PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
JI J. Neural Transm.
PD SEP
PY 2014
VL 121
IS 9
SI SI
BP 1157
EP 1170
DI 10.1007/s00702-014-1207-1
PG 14
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO1TB
UT WOS:000341096400007
PM 24752753
ER
PT J
AU Greimel, E
Schulte-Ruther, M
Kamp-Becker, I
Remschmidt, H
Herpertz-Dahlmann, B
Konrad, K
AF Greimel, Ellen
Schulte-Ruether, Martin
Kamp-Becker, Inge
Remschmidt, Helmut
Herpertz-Dahlmann, Beate
Konrad, Kerstin
TI Impairment in face processing in autism spectrum disorder: a
developmental perspective
SO JOURNAL OF NEURAL TRANSMISSION
LA English
DT Article
DE Autism spectrum disorder; Development; Age; Face recognition; Emotion
ID HIGH-FUNCTIONING ADULTS; FACIAL EXPRESSION; EMOTION RECOGNITION;
ASPERGER-SYNDROME; BRAIN ACTIVATION; CHILDREN; PERCEPTION; AMYGDALA;
INFORMATION; CHILDHOOD
AB Findings on face identity and facial emotion recognition in autism spectrum disorder (ASD) are inconclusive. Moreover, little is known about the developmental trajectory of face processing skills in ASD. Taking a developmental perspective, the aim of this study was to extend previous findings on face processing skills in a sample of adolescents and adults with ASD. N = 38 adolescents and adults (13-49 years) with high-functioning ASD and n = 37 typically developing (TD) control subjects matched for age and IQ participated in the study. Moreover, n = 18 TD children between the ages of 8 and 12 were included to address the question whether face processing skills in ASD follow a delayed developmental pattern. Face processing skills were assessed using computerized tasks of face identity recognition (FR) and identification of facial emotions (IFE). ASD subjects showed impaired performance on several parameters of the FR and IFE task compared to TD control adolescents and adults. Whereas TD adolescents and adults outperformed TD children in both tasks, performance in ASD adolescents and adults was similar to the group of TD children. Within the groups of ASD and control adolescents and adults, no age-related changes in performance were found. Our findings corroborate and extend previous studies showing that ASD is characterised by broad impairments in the ability to process faces. These impairments seem to reflect a developmentally delayed pattern that remains stable throughout adolescence and adulthood.
C1 [Greimel, Ellen; Schulte-Ruether, Martin; Konrad, Kerstin] Rhein Westfal TH Aachen, Univ Hosp, Dept Child & Adolescent Psychiat, Child Neuropsychol Sect, D-52062 Aachen, Germany.
[Greimel, Ellen; Herpertz-Dahlmann, Beate] Rhein Westfal TH Aachen, Univ Hosp, Dept Child & Adolescent Psychiat, D-52062 Aachen, Germany.
[Greimel, Ellen] Univ Hosp Munich, Dept Child & Adolescent Psychiat, D-80336 Munich, Germany.
[Kamp-Becker, Inge; Remschmidt, Helmut] Univ Hosp Giessen & Marburg, Dept Child & Adolescent Psychiat, Giessen, Germany.
RP Greimel, E (reprint author), Univ Hosp Munich, Dept Child & Adolescent Psychiat, Pettenkoferstr 8a, D-80336 Munich, Germany.
EM Ellen.Greimel@med.uni-muenchen.de
RI Konrad, Kerstin/H-7747-2013
OI Konrad, Kerstin/0000-0001-9039-2615
FU Vifor Pharma; Novartis; Medice
FX B. H.-D. receives industry research funding from Vifor Pharma. K. K.
received speaking fees from Novartis and Medice. All other authors
declare that they have no conflicts of interest.
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NR 74
TC 0
Z9 0
PU SPRINGER WIEN
PI WIEN
PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
JI J. Neural Transm.
PD SEP
PY 2014
VL 121
IS 9
SI SI
BP 1171
EP 1181
DI 10.1007/s00702-014-1206-2
PG 11
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO1TB
UT WOS:000341096400008
PM 24737035
ER
PT J
AU de Vries, M
Geurts, HM
AF de Vries, Marieke
Geurts, Hilde M.
TI Beyond individual differences: are working memory and inhibition
informative specifiers within ASD?
SO JOURNAL OF NEURAL TRANSMISSION
LA English
DT Article
DE ASD; WM; Inhibition; Individual differences
ID AUTISM SPECTRUM DISORDERS; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
N-BACK TASK; DISRUPTIVE BEHAVIOR DISORDERS; LATENT-VARIABLE ANALYSIS;
DIAGNOSTIC OBSERVATION SCHEDULE; DEFICIT HYPERACTIVITY DISORDER;
EXECUTIVE FUNCTION DEFICITS; RESPONSE-INHIBITION; PSYCHIATRIC-DISORDERS
AB Findings on working memory (WM) and inhibition in children with autism spectrum disorders (ASD) are contradictory and earlier studies largely ignored individual differences. As WM and inhibition seem to be related, children who experience WM deficits might also experience inhibition deficits. Moreover, these children possibly form a distinct subgroup, differing on other variables, such as cognitive functioning, symptom severity, behavior, and attention deficit hyperactivity disorder (ADHD) characteristics. We studied a large sample of children with and without ASD (8-12 years, IQ > 80) with classic experimental tasks (n-back task, ASD n = 77, control n = 45; stop task, ASD n = 74, control n = 43), and explored individual differences. The ASD group made more errors on the n-back task with increasing WM load, and had longer stop signal reaction times on the stop task when compared with controls. However, only 6 % of the ASD group showed both WM and inhibition deficits, and 71 % showed no deficits. Parents of children with WM and/or inhibition deficits tended to report more conduct problems on the disruptive behavior disorder rating scale. ADHD characteristics did not influence performance. Some children used medication during testing, which seemingly influenced stop task performance, but excluding these data did not change the main findings. Large individual differences in cognitive functioning are present, even within children with ASD with average or above average intelligence. However, whether individual differences in specific cognitive domains, such as WM and inhibition are as informative as individual differences in diagnosis, comorbidity, and general cognitive functioning, calls for future research.
C1 [de Vries, Marieke; Geurts, Hilde M.] Univ Amsterdam, Dept Psychol, Amsterdam, Netherlands.
[Geurts, Hilde M.] Autism Outpatient Clin, Amsterdam, Netherlands.
[Geurts, Hilde M.] Cognit Sci Ctr Amsterdam, Amsterdam, Netherlands.
RP Geurts, HM (reprint author), Univ Amsterdam, Dept Psychol, Amsterdam, Netherlands.
EM m.devries@uva.nl; h.m.geurts@uva.nl
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Williams DL, 2006, NEUROPSYCHOLOGY, V20, P21, DOI 10.1037/0894-4105.20.1.21
Wong D, 2006, GENES BRAIN BEHAV, V5, P561, DOI 10.1111/j.1601-183X.2005.00199.x
Zuddas A, 2006, EUR PSYCHIAT, V21, P410, DOI 10.1016/j.eurpsy.2005.08.001
NR 113
TC 1
Z9 1
PU SPRINGER WIEN
PI WIEN
PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
JI J. Neural Transm.
PD SEP
PY 2014
VL 121
IS 9
SI SI
BP 1183
EP 1198
DI 10.1007/s00702-014-1225-z
PG 16
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO1TB
UT WOS:000341096400009
PM 24796318
ER
PT J
AU Pankert, A
Pankert, K
Herpertz-Dahlmann, B
Konrad, K
Kohls, G
AF Pankert, Azarakhsh
Pankert, Kilian
Herpertz-Dahlmann, Beate
Konrad, Kerstin
Kohls, Gregor
TI Responsivity to familiar versus unfamiliar social reward in children
with autism
SO JOURNAL OF NEURAL TRANSMISSION
LA English
DT Article
DE Autism spectrum disorders; Social reward; Nonsocial reward; Familiarity;
Cognitive control
ID FUSIFORM FACE AREA; SPECTRUM DISORDERS; BRAIN PLASTICITY; MONETARY
REWARD; JOINT ATTENTION; ROMANTIC LOVE; MOTIVATION; INTERVENTION;
DYSFUNCTION; IMPAIRMENT
AB In autism spectrum disorders (ASD), social motivation theories suggest that the core social communication problems seen in children with ASD arise from diminished responsiveness to social reward. Although clinical and experimental data support these theories, the extent to which the reward deficit in ASD is unique for social rewards remains unclear. With the present investigation, we aimed to provide insight into the degree to which sociality as well as familiarity of reward incentives impact motivated goal-directed behavior in children with ASD. To do so, we directly compared the influence of familiar versus unfamiliar social reward relative to nonsocial, monetary reward in children with ASD relative to age- and IQ-matched typically developing controls (TDC) using a visual and auditory incentive go/nogo task with reward contingencies for successful response inhibitions. We found that children with ASD responded stronger to visual familiar and unfamiliar social reward as well as to nonsocial, monetary reward than TDC. While the present data are at odds with predictions made by social motivation theories, individual variations beyond clinical diagnosis, such as reward exposure across various social settings, help explain the pattern of results. The findings of this study stress the necessity for additional research on intra-individual as well as environmental factors that contribute to social reward responsiveness in individuals with ASD versus other neuropsychiatric disorders such as ADHD or conduct disorder.
C1 [Pankert, Azarakhsh; Pankert, Kilian; Konrad, Kerstin; Kohls, Gregor] Rhein Westfal TH Aachen, Child Neuropsychol Sect, Dept Child & Adolescent Psychiat, D-52074 Aachen, Germany.
[Herpertz-Dahlmann, Beate] Rhein Westfal TH Aachen, Dept Child & Adolescent Psychiat, D-52074 Aachen, Germany.
RP Kohls, G (reprint author), Rhein Westfal TH Aachen, Child Neuropsychol Sect, Dept Child & Adolescent Psychiat, Neuenhofer Weg 21, D-52074 Aachen, Germany.
EM gkohls@ukaachen.de
RI Konrad, Kerstin/H-7747-2013
OI Konrad, Kerstin/0000-0001-9039-2615
FU German Research Foundation (Deutsche Forschungsgemeinschaft/DFG) [IRTG
1328]
FX We would like to thank all young volunteers and their families who
participated in this study. We also thank Astrid Putz-Ebert for her help
with data collection. This study was supported by the German Research
Foundation (Deutsche Forschungsgemeinschaft/DFG, IRTG 1328). We are also
very grateful to two anonymous reviewers for their helpful comments on
earlier versions of the manuscript.
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NR 82
TC 3
Z9 3
PU SPRINGER WIEN
PI WIEN
PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
JI J. Neural Transm.
PD SEP
PY 2014
VL 121
IS 9
SI SI
BP 1199
EP 1210
DI 10.1007/s00702-014-1210-6
PG 12
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO1TB
UT WOS:000341096400010
PM 24728874
ER
PT J
AU Veness, C
Prior, M
Eadie, P
Bavin, E
Reilly, S
AF Veness, Carly
Prior, Margot
Eadie, Patricia
Bavin, Edith
Reilly, Sheena
TI Predicting autism diagnosis by 7 years of age using parent report of
infant social communication skills
SO JOURNAL OF PAEDIATRICS AND CHILD HEALTH
LA English
DT Article
DE autism; infant; longitudinal study; non-verbal communication; social
interaction
ID SPECTRUM DISORDERS; EARLY INDICATORS; HOME VIDEOTAPES; 2ND YEAR;
CHILDREN; LANGUAGE; LIFE
AB Aim: The aim of this study is to identify social communication skills in infancy which predict autism spectrum disorder (ASD) diagnosis by 7 years as compared with children with other developmental difficulties or typical development from within a population sample.
Methods: Children with an ASD (n = 41), developmental delay (n = 28), language impairment (n = 47) and typical development (n = 41) were drawn from a large, longitudinal community sample following children from 8 months to 7 years of age, the Early Language in Victoria Study. At 7 years of age, early social communication skills at 8, 12 and 24 months from the Communication and Symbolic Behavior Scales Infant-Toddler Checklist and the MacArthur-Bates Communicative Development Inventory: Words and Gestures were compared between groups and used to predict ASD diagnosis.
Results: Significant predictors of ASD diagnosis were found from 8 months, predominantly focused on gesture use and communicative behaviours, such as requesting and joint attention. While comparisons between children with ASD and children with language impairment and typical development revealed differences from 8 months of age, the developmental delay group did not differ significantly from ASD on any measure until 24 months of age. At 24 months, children with ASD had lower Communication and Symbolic Behavior Scales Use of Communication scores as compared with all other groups.
Conclusions: The capacity to identify early markers of ASD should facilitate awareness of the risk of an ASD as compared with other developmental problems and point to the need for further developmental assessment, monitoring and provision of early intervention if indicated.
C1 [Veness, Carly; Eadie, Patricia; Reilly, Sheena] Royal Childrens Hosp, Murdoch Childrens Res Inst, Hearing Language & Literacy Grp, Melbourne, Vic, Australia.
[Prior, Margot] Univ Melbourne, Melbourne, Vic, Australia.
[Eadie, Patricia] Univ Melbourne, Dept Audiol & Speech Pathol, Melbourne, Vic, Australia.
[Reilly, Sheena] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia.
[Bavin, Edith] La Trobe Univ, Sch Psychol Sci, Melbourne, Vic, Australia.
RP Reilly, S (reprint author), Royal Childrens Hosp, Murdoch Childrens Res Inst, Flemington Rd, Parkville, Vic 3052, Australia.
EM sheena.reilly@mcri.edu.au
FU National Health and Medical Research Council (NHMRC) [1041947, 607407,
1023493]; Victorian Government Operational Infrastructure Support
Program; NHMRC [1041892]; Nadia Verrall Memorial Research Grant from
Speech Pathology Australia; Syd and Ann Wellard Memorial Trust
FX ELVS was supported by the National Health and Medical Research Council
(NHMRC) Project Grants (#1041947, #607407 and #1023493) and the
Victorian Government Operational Infrastructure Support Program. SR was
supported by the NHMRC practitioner fellowship (#1041892). The ELVS
Autism study was supported by the Nadia Verrall Memorial Research Grant
from Speech Pathology Australia and the Syd and Ann Wellard Memorial
Trust as administered by Equity Trustees Limited. The authors would like
to acknowledge and thank all participating families and the ELVS
research assistants.
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NR 24
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1034-4810
EI 1440-1754
J9 J PAEDIATR CHILD H
JI J. Paediatr. Child Health
PD SEP
PY 2014
VL 50
IS 9
BP 693
EP 700
DI 10.1111/jpc.12614
PG 8
WC Pediatrics
SC Pediatrics
GA AO2HV
UT WOS:000341141200007
PM 24909517
ER
PT J
AU McLean, RL
Harrison, AJ
Zimak, E
Joseph, RM
Morrow, EM
AF McLean, Rebecca L.
Harrison, Ashley Johnson
Zimak, Eric
Joseph, Robert M.
Morrow, Eric M.
TI Executive Function in Probands With Autism With Average IQ and Their
Unaffected First-Degree Relatives
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE autism spectrum disorder; executive functioning; adaptive functioning;
IQ; pedigree
ID TRAUMATIC BRAIN-INJURY; SPECTRUM DISORDERS; COGNITIVE PHENOTYPE;
CHILDREN; INDIVIDUALS; PARENTS; IMPAIRMENTS; DYSFUNCTION; CHILDHOOD;
PROFILES
AB Objective: This study aimed to characterize executive function (EF) in pedigrees of children with autism spectrum disorder (ASD) and average IQ. The authors examined the hypothesis that deficits in EF relate to lower levels of adaptive functioning, and they assessed evidence for a cognitive extended phenotype in unaffected relatives in a large, well-characterized sample. Method: Proband EF was assessed by parent-report questionnaires (Behavior Rating Inventory of Executive Functioning [BRIEF], n = 109) and child neuropsychological tests (Delis-Kaplan Executive Functioning System [D-KEFS], n = 35). EF also was examined in parents (D-KEFS, n = 335) and unaffected siblings (BRIEF, n = 114; D-KEFS, n = 57). Adaptive functioning was assessed by the Vineland Adaptive Behavior Scales-II (n = 155). All data were obtained from the Autism Consortium Clinical Genetics Database. Results: Individuals with ASD showed important EF weaknesses. Multiple regression analyses showed that parent-reported EF deficits were related to profound decreases in adaptive functioning even after controlling for age, IQ and severity of ASD symptoms. Parent-reported EF also was related to adaptive skills in preschoolers. First-degree unaffected relatives did not demonstrate difficulties with EF compared with normative data. Conclusion: In this study, EF impairments do not appear to relate to broad familial risk factors for ASD but may be associated with factors relevant to the expression of ASD in probands. Results support the benefits of EF assessment as a way to identify potential therapeutic targets that could lead to improved adaptive behavior in children with ASD and average IQ.
C1 [McLean, Rebecca L.; Morrow, Eric M.] Brown Univ, Sch Med, Emma Pendleton Bradley Hosp, Dev Disorders Genet Res Program, Providence, RI 02912 USA.
[McLean, Rebecca L.] Mem Hosp Rhode Isl, Neurodev Ctr, Pawtucket, RI USA.
[Harrison, Ashley Johnson; Zimak, Eric] Emma Pendleton Bradley Hosp, Dev Disorders Genet Res Program, East Providence, RI USA.
[Harrison, Ashley Johnson; Zimak, Eric] Brown Univ, Med Sch, Providence, RI 02912 USA.
[Joseph, Robert M.] Boston Univ, Sch Med, Boston, MA 02215 USA.
[Joseph, Robert M.; Morrow, Eric M.] Autism Consortium, Boston, MA USA.
[Morrow, Eric M.] Brown Univ, Brown Inst Brain Sci, Providence, RI 02912 USA.
RP Morrow, EM (reprint author), Brown Univ, Mol Med Lab, 70 Ship St, Providence, RI 02912 USA.
EM eric_morrow@brown.edu
RI Joseph, Roy/D-8530-2015
FU Dr. Morrow's Career Award in Medical Science from the Burroughs Wellcome
Fund; National Institutes of Health (NIH) / National Institute of
General Medical Sciences (NIGMS) [P20GM103645 01A1]; Autism Consortium;
NIMH [1R01MH085143, 1R01MH083565]
FX This research was supported by Dr. Morrow's Career Award in Medical
Science from the Burroughs Wellcome Fund and the National Institutes of
Health (NIH) / National Institute of General Medical Sciences (NIGMS)
grant P20GM103645 01A1 : Project Award under Neuroscience COBRE Project.
The collection of data and biomaterials comes from the Phenotypic and
Genetic Factors in Autism Spectrum Disorders Study. Since 2008, this
project has been supported by the Autism Consortium and by NIMH grants
(1R01MH085143, principal investigator, Louis M. Kunkel, PhD;
1R01MH083565, principal investigator, Christopher Walsh, MD, PhD)
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Wilde EA, 2012, INT J DEV NEUROSCI, V30, P267, DOI 10.1016/j.ijdevneu.2012.01.003
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NR 46
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0890-8567
EI 1527-5418
J9 J AM ACAD CHILD PSY
JI J. Am. Acad. Child Adolesc. Psychiatr.
PD SEP
PY 2014
VL 53
IS 9
BP 1001
EP 1009
DI 10.1016/j.jaac.2014.05.019
PG 9
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AO3HW
UT WOS:000341221300010
PM 25151423
ER
PT J
AU Crider, A
Pandya, CD
Peter, D
Ahmed, AO
Pillai, A
AF Crider, Amanda
Pandya, Chirayu D.
Peter, Diya
Ahmed, Anthony O.
Pillai, Anilkumar
TI Ubiquitin-proteasome dependent degradation of GABA(A)alpha 1 in autism
spectrum disorder
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism; GABA(A) receptor; Ubiquitination; SYVN1; Neurons
ID ENDOPLASMIC-RETICULUM; RECEPTORS; SYSTEM; PHOSPHORYLATION; EXPRESSION;
RETENTION; EPILEPSY; MUTATION; PATHWAY; CORTEX
AB Background: Although the neurobiological basis of autism spectrum disorder (ASD) is not fully understood, recent studies have indicated the potential role of GABA(A) receptors in the pathophysiology of ASD. GABA(A) receptors play a crucial role in various neurodevelopmental processes and adult neuroplasticity. However, the mechanism(s) of regulation of GABA(A) receptors in ASD remains poorly understood.
Methods: Postmortem middle frontal gyrus tissues (13 ASD and 13 control subjects) were used. In vitro studies were performed in primary cortical neurons at days in vitro (DIV) 14. The protein levels were examined by western blotting. Immunofluorescence studies were employed for cellular localization. The gene expression was determined by RT-PCR array and qRT-PCR.
Results: A significant decrease in GABA(A)alpha 1 protein, but not mRNA levels was found in the middle frontal gyrus of ASD subjects indicating a post-translational regulation of GABA(A) receptors in ASD. At the cellular level, treatment with proteasomal inhibitor, MG132, or lactacystin significantly increased GABA(A)alpha 1 protein levels and Lys48-linked polyubiquitination of GABA(A)alpha 1, but reduced proteasome activity in mouse primary cortical neurons (DIV 14 from E16 embryos). Moreover, treatment with betulinic acid, a proteasome activator significantly decreased GABA(A alpha)1 protein levels in cortical neurons indicating the role of polyubiquitination of GABA(A)alpha 1 proteins with their subsequent proteasomal degradation in cortical neurons. Ubiquitination specific RT-PCR array followed by western blot analysis revealed a significant increase in SYVN1, an endoplasmic reticulum (ER)-associated degradation (ERAD) E3 ubiquitin ligase in the middle frontal gyrus of ASD subjects. In addition, the inhibition of proteasomal activity by MG132 increased the expression of GABA(A)alpha 1 in the ER. The siRNA knockdown of SYVN1 significantly increased GABA(A)alpha 1 protein levels in cortical neurons. Moreover, reduced association between SYVN1 and GABA(A)alpha 1 was found in the middle frontal gyrus of ASD subjects.
Conclusions: SYVN1 plays a critical role as an E3 ligase in the ubiquitin proteasome system (UPS)-mediated GABA(A)a1 degradation. Thus, inhibition of the ubiquitin-proteasome-mediated GABA(A)alpha 1 degradation may be an important mechanism for preventing GABA(A)alpha 1 turnover to maintain GABA(A)alpha 1 levels and GABA signaling in ASD.
C1 [Crider, Amanda; Pandya, Chirayu D.; Peter, Diya; Pillai, Anilkumar] Georgia Regents Univ, Med Coll Georgia, Dept Psychiat & Hlth Behav, Augusta, GA 30912 USA.
[Ahmed, Anthony O.] Will Cornell Med Coll, Dept Psychiat, White Plains, NY 10605 USA.
RP Pillai, A (reprint author), Georgia Regents Univ, Med Coll Georgia, Dept Psychiat & Hlth Behav, 997 St Sebastian Way, Augusta, GA 30912 USA.
EM apillai@gru.edu
FU NIH [HHSN275200900011C, NO1-HD-9-0011]
FX Human postmortem samples were obtained from the NICHD Brain and Tissue
Bank for Developmental Disorders at the University of Maryland,
Baltimore, MD, USA. The Bank is funded by NIH Contract No.
#HHSN275200900011C, Ref. No. NO1-HD-9-0011.
CR Akerman CJ, 2007, TRENDS NEUROSCI, V30, P382, DOI 10.1016/j.tins.2007.06.002
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NR 29
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD SEP 1
PY 2014
VL 5
AR 45
DI 10.1186/2040-2392-5-45
PG 10
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AO2NC
UT WOS:000341159500001
PM 25392730
ER
PT J
AU McDonagh, MS
Matthews, A
Phillipi, C
Romm, J
Peterson, K
Thakurta, S
Guise, JM
AF McDonagh, Marian S.
Matthews, Annette
Phillipi, Carrie
Romm, Jillian
Peterson, Kim
Thakurta, Sujata
Guise, Jeanne-Marie
TI Depression Drug Treatment Outcomes in Pregnancy and the Postpartum
Period A Systematic Review and Meta-analysis
SO OBSTETRICS AND GYNECOLOGY
LA English
DT Review
ID SEROTONIN-REUPTAKE INHIBITORS; RANDOMIZED CONTROLLED-TRIAL; PERSISTENT
PULMONARY-HYPERTENSION; PRENATAL ANTIDEPRESSANT EXPOSURE; AUTISM
SPECTRUM DISORDERS; POPULATION-BASED COHORT; MATERNAL DEPRESSION;
NEONATAL OUTCOMES; CONGENITAL-MALFORMATIONS; POSTNATAL DEPRESSION
AB OBJECTIVE: To evaluate the comparative benefits and harms in both mother and child of antidepressant treatment for depression in pregnant or postpartum women.
DATA SOURCES: MEDLINE, the Cochrane Library, CINAHL, Scopus, ClinicalTrials.gov (inception to July 2013), manufacturers, and reference lists.
METHODS OF STUDY SELECTION: Two reviewers independently selected studies of pregnant women with depression comparing antidepressants with each other, placebo or no treatment, or nondrug treatments. Studies making comparisons among women taking antidepressants for any reason and those not taking antidepressants (depression status unknown) were used to fill gaps in the evidence.
TABULATION, INTEGRATION, AND RESULTS: Dual study data extraction and quality assessment were used. Six randomized controlled trials and 15 observational studies provided evidence. Low-strength evidence suggested neonates of pregnant women with depression taking selective serotonin reuptake inhibitors had higher risk of respiratory distress than did neonates of untreated women (13.9% compared with 7.8%; P<.001) but no difference in risk of neonatal convulsions (0.14% compared with 0.11%; P=.64) or preterm birth (17% compared with 10%; P=.07). Indirect evidence from studies of pregnant women receiving antidepressants for mixed or unreported reasons compared with pregnant women not taking antidepressants (depression status unknown) suggested future research should focus on congenital anomalies and autism spectrum and attention deficit disorders in the child. In postpartum depression, low-strength evidence suggested symptom response was not improved when sertraline was added to psychotherapy or when cognitive-behavioral therapy was added to paroxetine. Evidence was insufficient for other outcomes, including depression symptoms, functional capacity, breastfeeding, and infant and child development. A serious limitation is the lack of study populations of exclusively depressed pregnant and postpartum women.
CONCLUSION: Evidence about the comparative benefits and harms of pharmacologic treatment of depression in pregnant and postpartum women was largely inadequate to allow informed decisions about treatment. Considering the prevalence of depression, filling this gap is essential.
C1 Oregon Hlth & Sci Univ, Dept Med Informat & Clin Epidemiol, Sch Med, Portland, OR 97230 USA.
Oregon Hlth & Sci Univ, Dept Psychiat, Sch Med, Portland, OR 97230 USA.
Oregon Hlth & Sci Univ, Dept Pediat, Sch Med, Portland, OR 97230 USA.
Oregon Hlth & Sci Univ, Dept Obstet & Gynecol, Sch Med, Portland, OR 97230 USA.
Portland Vet Affairs Hosp, Portland, OR USA.
RP McDonagh, MS (reprint author), Oregon Hlth & Sci Univ, 3181 SW Sam Jackson Pk Rd, Portland, OR 97230 USA.
EM mcdonagh@ohsu.edu
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NR 77
TC 2
Z9 2
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0029-7844
J9 OBSTET GYNECOL
JI Obstet. Gynecol.
PD SEP
PY 2014
VL 124
IS 3
BP 526
EP 534
DI 10.1097/AOG.0000000000000410
PG 9
WC Obstetrics & Gynecology
SC Obstetrics & Gynecology
GA AO4OV
UT WOS:000341320800008
PM 25004304
ER
PT J
AU Randles, C
AF Randles, Clint
TI Early Childhood Music Therapy and Autism Spectrum Disorders.
SO PSYCHOLOGY OF MUSIC
LA English
DT Book Review
C1 [Randles, Clint] Univ S Florida, Tampa, FL 33620 USA.
RP Randles, C (reprint author), Univ S Florida, Tampa, FL 33620 USA.
CR KERN P, 2012, EARLY CHILDHOOD MUSI
Randles C., 2013, GEN MUSIC TODAY, V27, P48
Randles C., MUSIC MEDIA IN PRESS
Randles C, 2012, J AESTHET EDUC, V46, P36
Randles C., J MUSIC TEC IN PRESS
NR 5
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0305-7356
EI 1741-3087
J9 PSYCHOL MUSIC
JI Psychol. Music
PD SEP
PY 2014
VL 42
IS 5
BP 766
EP 767
PG 3
WC Psychology, Educational; Psychology, Applied; Music; Psychology,
Experimental
SC Psychology; Music
GA AN6SV
UT WOS:000340728400009
ER
PT J
AU Dickerson, AS
Pearson, DA
Loveland, KA
Rahbar, MH
Filipek, PA
AF Dickerson, Aisha S.
Pearson, Deborah A.
Loveland, Katherine A.
Rahbar, Mohammad H.
Filipek, Pauline A.
TI Role of parental occupation in autism spectrum disorder diagnosis and
severity
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Diagnosis; Severity; Risk; Occupation; Parents
ID INTERGENERATIONAL TRANSMISSION; GENERAL-POPULATION; JAMAICAN CHILDREN;
PHENOTYPE; EXPOSURE; LEAD; MATHEMATICIANS; ADOLESCENTS; SIBLINGS;
MERCURY
AB Some have suggested that parents of children with autism spectrum disorder (ASD) may present with less recognizable autistic-like phenotypic characteristics, leading them to highly systemizing occupations. Using secondary analysis of data from two previous studies of children with ASD, we tested associations between parental occupations and ASD diagnosis and the association of parental occupational characteristics on ASD severity. We found that fathers in healthcare (P < 0.01) and finance (P = 0.03) were more likely to have children with ASD. Additionally, joint effects of parental technical occupations were associated with communication (P < 0.01) and social impairment (P = 0.04). These results support that a "broader phenotype" and possible assortative mating in adults with autistic-like characteristics might contribute to intergenerational transmission and having offspring with greater ASD severity. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Dickerson, Aisha S.; Rahbar, Mohammad H.] Univ Texas Houston, Sch Publ Hlth, Div Epidemiol Human Genet & Environm Sci EHGES, Houston, TX USA.
[Dickerson, Aisha S.; Rahbar, Mohammad H.] Univ Texas Houston, Hlth Sci Ctr, Ctr Clin & Translat Sci, Biostat Epidemiol Res Design Core, Houston, TX 77030 USA.
[Pearson, Deborah A.; Loveland, Katherine A.] Univ Texas Houston, Sch Med, Dept Psychiat & Behav Sci, Houston, TX 77030 USA.
[Filipek, Pauline A.] Univ Texas Houston, Hlth Sci Ctr, Childrens Learning Inst, Dept Pediat, Houston, TX 77030 USA.
[Filipek, Pauline A.] Univ Texas Houston, Hlth Sci Ctr, Div Child & Adolescent Neurol, Houston, TX 77030 USA.
RP Dickerson, AS (reprint author), Univ Texas Houston, Hlth Sci Ctr, Ctr Clin & Translat Sci, Biostat Epidemiol Res Design Core, UT Profess Bldg Suite 1100-05, Houston, TX 77030 USA.
EM Aisha.S.Dickerson@uth.tmc.edu; Deborah.A.Pearson@uth.tmc.edu;
Katherine.A.Loveland@uth.tmc.edu; Mohammad.H.Rahbar@uth.tmc.edu;
Pauline.A.Filipek@uth.tmc.edu
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Sasson NJ, 2013, J NEURODEV DISORD, V5, DOI 10.1186/1866-1955-5-11
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Young R., 2003, FLINDERS OBSERVATION
NR 67
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 997
EP 1007
DI 10.1016/j.rasd.2014.05.007
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600001
ER
PT J
AU Gargaro, BA
May, T
Tonge, BJ
Sheppard, DM
Bradshaw, JL
Rinehart, NJ
AF Gargaro, B. A.
May, T.
Tonge, B. J.
Sheppard, D. M.
Bradshaw, J. L.
Rinehart, N. J.
TI Using the DBC-P Hyperactivity Index to screen for ADHD in young people
with autism and ADHD: A pilot study
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE ADHD; Autism spectrum disorder; Comorbidity; DBC; Hyperactivity
ID PERVASIVE DEVELOPMENTAL DISORDERS; BEHAVIOR CHECKLIST;
PSYCHIATRIC-DISORDERS; DIAGNOSTIC INTERVIEW; CHILDREN; POPULATION;
ADOLESCENTS; INSTRUMENT; SYMPTOMS; SAMPLE
AB This study aimed to (1) determine preliminary validity of the Developmental Behaviour Checklist-Hyperactivity Index (DBC-HI) as a screening measure of combined-type ADHD in autism and ADHD, and (2) compare emotional-behavioural disturbance using the DBC in autism, ADHD and autism + ADHD. Forty-nine age- and PIQ-matched young people [6-18 years; 12 autism, 13 ADHD, 12 autism + ADHD, 12 typically developing] were recruited. Parents completed the Conners-Revised Rating Scale and DBC. The DBC-HI displayed strong internal consistency and good external validity, reliably measuring combined-type ADHD. The DBC-HI distinguished autism from autism + ADHD with fair sensitivity and specificity. Individuals with autism + ADHD exhibited a more severe profile of emotional-behavioural disturbance than autism or ADHD alone. The DBC may be a useful 'all-in-one' screening tool to (1) identify comorbidity and (2) determine the severity of emotional-behavioural disturbance in autism and/or ADHD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Gargaro, B. A.; Tonge, B. J.; Bradshaw, J. L.] Monash Univ, Sch Psychol & Psychiat, Clayton, Vic 3800, Australia.
[May, T.; Rinehart, N. J.] Deakin Univ, Burwood, Vic 3125, Australia.
[Sheppard, D. M.] Monash Univ, Monash Univ Accid Res Ctr, Monash Injury Res Inst, Clayton, Vic 3800, Australia.
RP May, T (reprint author), Deakin Univ, 221 Burwood Highway, Burwood, Vic 3125, Australia.
EM Tamara.May@deakin.edu.au
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Baird G, 2000, J AM ACAD CHILD PSY, V39, P694, DOI 10.1097/00004583-200006000-00007
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Conners C. K., 1997, CONNERS RATING SCALE
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NR 23
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1008
EP 1015
DI 10.1016/j.rasd.2014.05.004
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600002
ER
PT J
AU Brady, DI
Saklofske, DH
Schwean, VL
Montgomery, JM
McCrimmon, AW
Thorne, KJ
AF Brady, Danielle I.
Saklofske, Donald H.
Schwean, Vicki L.
Montgomery, Janine M.
McCrimmon, Adam W.
Thorne, Keoma J.
TI Cognitive and emotional intelligence in young adults with Autism
Spectrum Disorder without an accompanying intellectual or language
disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Asperger's syndrome; Autism Spectrum Disorder; Cognitive intelligence;
Emotional intelligence; Neuropsychology and young adults
ID ASPERGERS SYNDROME; SOCIAL INTELLIGENCE; INDIVIDUALS; HEALTH
AB Research in the neurosciences has identified distinctions between neural structures that subserve cognitive intelligence (CI) and those subserving emotional intelligence (EI). This study explored the performance of young adults with Autism Spectrum Disorder (ASD) without an accompanying intellectual or language disorder relative to typically-developing peers, on indices of CI and EI. Both the ASD and age- and sex-matched typically-developing groups exhibited high average cognitive intellectual abilities. In contrast, the ASD group reported lower levels of EI relative to their typically-developing peers, as expected given the social and emotional challenges faced by individuals with ASD. Importantly, cognitive intelligence did not correlate with EI in either group. Taken together, these findings further support the theory of dissociable neural systems underlying CI and EI. These findings also highlight the need to address not only the intellectual aspects of cognition, but also the emotional components to increase understanding of, and improve treatment for individuals on the autism spectrum. This understanding would enhance our ability to assess and support young adults with ASD, and ultimately ease their transition into adulthood. Crown Copyright (C) 2014 Published by Elsevier Ltd. All rights reserved.
C1 [Brady, Danielle I.; McCrimmon, Adam W.; Thorne, Keoma J.] Univ Calgary, Div Appl Psychol, Calgary, AB T2N 1N4, Canada.
[Saklofske, Donald H.] Univ Western Ontario, Social Sci Ctr, Dept Psychol, London, ON N6A 5C2, Canada.
[Schwean, Vicki L.] Univ Western Ontario, Fac Educ, London, ON N6G 1G7, Canada.
[Montgomery, Janine M.] Univ Manitoba, Dept Psychol, Winnipeg, MB R3T 2N2, Canada.
RP Brady, DI (reprint author), POB 21055,110 Columbia Blvd West, Lethbridge, AB T1K 6X4, Canada.
EM dbrady@ucalgary.ca
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Austin E. J., 2005, INT HDB EMOTIONAL IN
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NR 48
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1016
EP 1023
DI 10.1016/j.rasd.2014.05.009
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600003
ER
PT J
AU Adams, HL
Matson, JL
Jang, J
AF Adams, Hilary L.
Matson, Johnny L.
Jang, Jina
TI The relationship between sleep problems and challenging behavior among
children and adolescents with autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Sleep problems; Challenging behavior
ID PERVASIVE DEVELOPMENTAL DISORDER; INTELLECTUAL DISABILITY;
MENTAL-RETARDATION; ASPERGERS SYNDROME; PDD-NOS; ADULTS; SYMPTOMS;
INFANTS; ASD; RISPERIDONE
AB Prior research has indicated fairly consistently that sleep problems appear to worsen ASD core symptomatology. As such, the present study was conducted to examine whether or not sleep problems also exacerbate behavior problems commonly exhibited by children and adolescents with ASD in terms of total, internalizing, and externalizing challenging behavior. Results indicated that presence of sleep problems increased the ratings of challenging behavior across types, as hypothesized. Unexpectedly, degree of sleep problem (i.e., mild versus severe) only affected total and externalizing challenging behavior, whereas ratings of internalizing challenging behavior were not significantly different between mild and severe sleep problem groups. Clinical applications of findings, as well as future directions for additional research on the topic of sleep among individuals with ASD, are discussed. Published by Elsevier Ltd.
C1 [Adams, Hilary L.; Matson, Johnny L.; Jang, Jina] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Adams, HL (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM hilary.l.adams@gmail.com
CR Adams HL, 2014, RES AUTISM SPECT DIS, V8, P193, DOI 10.1016/j.rasd.2013.11.008
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Stigler KA, 2014, CHILD ADOL PSYCH CL, V23, P73, DOI 10.1016/j.chc.2013.07.005
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NR 72
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1024
EP 1030
DI 10.1016/j.rasd.2014.05.008
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600004
ER
PT J
AU Rivard, M
Terroux, A
Mercier, C
AF Rivard, Melina
Terroux, Amelie
Mercier, Celine
TI Effectiveness of early behavioral intervention in public and mainstream
settings: The case of preschool-age children with autism spectrum
disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Children with autism spectrum disorders; Early behavioral intervention;
Intensity; Mainstream day care; Parental coaching; Effectiveness
ID PERVASIVE DEVELOPMENTAL DISORDER; INTENSIVE EARLY INTERVENTION;
YOUNG-CHILDREN; PSYCHOSOCIAL INTERVENTIONS; CHALLENGING BEHAVIOR;
MENTAL-RETARDATION; SOCIAL COMPETENCE; PEOPLE; PROGRAM; METAANALYSIS
AB Despite the demonstrated positive outcomes of early intensive behavioral intervention (EIBI) among children with autism spectrum disorders (ASD), several challenges to its implementation on a large scale and in community settings remain. In order to maximize the accessibility and cost-effectiveness of its services, a regional public agency serving children with ASD implemented two consecutive programs: a 1 year pre-program for parents (intensive sessions followed by 1 hour per week of individual coaching) and an early behavioral intervention (EBI) program with less than optimal weekly intensity (16-20 hours) delivered in mainstream day care settings. The outcomes of these programs were assessed among 93 children. Their IQ adaptive behavior, and socioaffective competencies were found to have improved after 12 months in the EBI program. Their autism symptoms had also decreased marginally. Although the pre-program did not have observable effects on children's outcomes, their parents reported positive impact on their well-being and family life. These results demonstrate the feasibility and sustainability of offering EBI to large, unselected populations. However, the pre-program may need to be offered more intensively in order to yield positive outcomes for children. Delivering EBI services in mainstream settings may foster the development of skills linked to social integration. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Rivard, Melina] Univ Quebec Montreal, Dept Psychol, Montreal, PQ H3C 3P8, Canada.
[Terroux, Amelie] Ctr Readaptat Deficience Intellectuelle & Trouble, St Hubert, PQ, Canada.
[Mercier, Celine] Univ Montreal, Dept Social & Prevent Med, Montreal, PQ, Canada.
RP Rivard, M (reprint author), Univ Quebec Montreal, Dept Psychol, POB 8888,Succursale Ctr Ville, Montreal, PQ H3C 3P8, Canada.
EM rivard.melina@uqam.ca
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NR 80
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1031
EP 1043
DI 10.1016/j.rasd.2014.05.010
PG 13
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600005
ER
PT J
AU Fisher, WW
Luczynski, KC
Hood, SA
Lesser, AD
Machado, MA
Piazza, CC
AF Fisher, Wayne W.
Luczynski, Kevin C.
Hood, Stephanie A.
Lesser, Aaron D.
Machado, Mychal A.
Piazza, Cathleen C.
TI Preliminary findings of a randomized clinical trial of a virtual
training program for applied behavior analysis technicians
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Applied behavior analysis; Autism; Behavioral skills training; Early
intensive behavioral interventions; Telehealth; Virtual care
ID AUTISM SPECTRUM DISORDERS; YOUNG-CHILDREN; INTERVENTIONS; TELEHEALTH
AB As the demand for applied behavior analysis (ABA) services for children with an autism spectrum disorder continues to grow, it is critical to develop efficient, effective, and widely accessible procedures for training technicians to implement ABA interventions. One approach would be to develop efficacious training programs that could be delivered over the Internet via a virtual private network (VPN). In the current study, we developed a 40-h virtual training program in which participants completed e-learning modules and also received behavioral skills training over a VPN to implement behavior reduction and skill acquisition protocols in both discrete-trail and play-based formats. This virtual training program was evaluated in a randomized-clinical trial (RCT) using direct-observation measures on the implementation of discrete-trial training and play-based procedures as the primary dependent variables (which were also collected via a VPN). Participants in the treatment group showed robust and statistically significant improvement in their implementation of behavior reduction and acquisition programs under both discrete-trial and play-based formats, and they rated the training as highly socially acceptable. These preliminary results from an ongoing RCT suggest that this effective, convenient, and socially acceptable virtual training program has the potential to extend access to ABA services to families in rural and other underserved areas or populations. (C) 2014 Elsevier LtdElsevier Ltd. All rights reserved.
C1 [Fisher, Wayne W.; Luczynski, Kevin C.; Hood, Stephanie A.; Lesser, Aaron D.; Machado, Mychal A.; Piazza, Cathleen C.] Univ Nebraska Med Ctr, Monroe Meyer Inst, Omaha, NE USA.
RP Fisher, WW (reprint author), Ctr Autism Spectrum Disorders, 985450 Nebraska Med Ctr, Omaha, NE 68198 USA.
EM WFisher@UNMC.Edu
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NR 32
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1044
EP 1054
DI 10.1016/j.rasd.2014.05.002
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600006
ER
PT J
AU Shih, CH
Chiang, MS
Wang, SH
Chen, CN
AF Shih, Ching-Hsiang
Chiang, Ming-Shan
Wang, Shu-Hui
Chen, Chih-Nung
TI Teaching two teenagers with autism spectrum disorders to request the
continuation of video playback using a touchscreen computer with the
function of automatic response to requests
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Touchscreen; ASD; SGD; Communication request
ID CONTROLLING ENVIRONMENTAL STIMULATION; FREE WIRELESS MICE; DESIGNATED
OCCUPATIONAL ACTIVITIES; FOLLOW SIMPLE INSTRUCTIONS; WII REMOTE
CONTROLLER; ASSISTING PEOPLE; DEVELOPMENTAL-DISABILITIES;
PHYSICAL-ACTIVITIES; ENABLING PEOPLE; BALANCE BOARDS
AB This study used a standard touchscreen computer with a newly developed Communication Request and Automatic Response Assistive Program (CRARAP) software package to evaluate whether two people with autism spectrum disorders (ASDs) would be able to actively perform communication requests to continue their preferred environmental stimulation. The CRARAP software was specifically developed for this study to combine the functions of a standard touchscreen computer with a speech-generating device (SGD) and the feature of automatic response to requests. A multiple probe design across participants was adopted in this study. The results show that both participants significantly improved their target responses in terms of performing the correct alternative communication request during the intervention phase, and retained this effective performance in the maintenance phase. The practical and developmental implications of the findings are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Shih, Ching-Hsiang; Chiang, Ming-Shan; Wang, Shu-Hui; Chen, Chih-Nung] Natl Dong Hwa Univ, Dept Special Educ, Hualien 970, Taiwan.
RP Shih, CH (reprint author), Natl Dong Hwa Univ, Dept Special Educ, Hualien 970, Taiwan.
EM schee@mail.ndhu.edu.tw
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Wikipedia, 2014, STIM
NR 29
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1055
EP 1061
DI 10.1016/j.rasd.2014.05.014
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600007
ER
PT J
AU Chuang, IC
Tseng, MH
Lu, L
Shieh, JY
Cermak, SA
AF Chuang, I-Ching
Tseng, Mei-Hui
Lu, Lu
Shieh, Jeng-Yi
Cermak, Sharon A.
TI Predictors of the health-related quality of life in preschool children
with Autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Health-related quality of life; Caregiver's mental health; Parenting
stress; Preschool children with Autism spectrum disorders
ID PERVASIVE DEVELOPMENTAL DISORDERS; CEREBRAL-PALSY; PSYCHOMETRIC
PROPERTIES; QUESTIONNAIRE CHQ; MENTAL-HEALTH; DETERMINANTS;
ASSOCIATIONS; TEMPERAMENT; VALIDATION; CHILDHOOD
AB This study was aimed to identify the predictors of health-related quality of life (HRQOL) by considering the caregiver's characteristics such as mental health and parenting stress as well as child characteristics in preschool children with Autism spectrum disorders (ASD). A total of 106 children aged 36-70 months participated in this study. The study indicated that the predictors of HRQOL in children with ASD encompassed not only child but also caregiver characteristics. In particular, good HRQOL on the domains of social and emotional functioning in children with ASD depended upon the caregiver's mental well-being. In summary, the present findings highlight the need for assessment of caregivers' parenting stress and their mental status as well as the predictors of HRQOL in children with ASD. Furthermore, the findings of the study could serve as a guide for clinicians to target at the predictors when providing assessment and intervention for children with ASD to improve their HRQOL. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Chuang, I-Ching; Tseng, Mei-Hui] Natl Taiwan Univ, Coll Med, Sch Occupat Therapy, Taipei 10055, Taiwan.
[Tseng, Mei-Hui; Lu, Lu; Shieh, Jeng-Yi] Natl Taiwan Univ Hosp, Dept Phys Med & Rehabil, Taipei, Taiwan.
[Cermak, Sharon A.] Univ So Calif, Div Occupat Sci & Occupat Therapy, Los Angeles, CA 90089 USA.
RP Tseng, MH (reprint author), Natl Taiwan Univ, Coll Med, Sch Occupat Therapy, Taipei 10055, Taiwan.
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NR 58
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1062
EP 1070
DI 10.1016/j.rasd.2014.05.015
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600008
ER
PT J
AU Stasolla, F
Perilli, V
Damiani, R
Caffo, AO
Di Leone, A
Albano, V
Stella, A
Damato, C
AF Stasolla, Fabrizio
Perilli, Viviana
Damiani, Rita
Caffo, Alessandro O.
Di Leone, Antonia
Albano, Vincenza
Stella, Anna
Damato, Concetta
TI A microswitch-cluster program to enhance object manipulation and to
reduce hand mouthing by three boys with autism spectrum disorders and
intellectual disabilities
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Microswitch-cluster; Autism spectrum disorders; Developmental
disabilities; Indices of happiness; Quality of life
ID SCANNING KEYBOARD EMULATOR; MULTIPLE DISABILITIES; MOTOR DISABILITIES;
DEVELOPMENTAL-DISABILITIES; BEHAVIOR; TECHNOLOGY; CHILDREN; ENGAGEMENT;
INTERVENTIONS; INDIVIDUALS
AB We assessed a microswitch-cluster program to enhance object manipulation and to reduce hand mouthing by three boys with autism spectrum disorders and severe to profound intellectual disabilities. A second goal of the study was to monitor the effect of such program on the indices of happiness of the participants. The study has been carried out according to an ABB(1)AB(1) sequence, where A represented baseline phases, B represented intervention phase in which the adaptive response (i.e. object manipulation) was followed by a contingent positive stimulation irrespective of challenge behavior (i.e. hand mouthing), and B-1 indicated intervention phases in which an adaptive response was followed by a contingent positive stimulation only if it occurred with the simultaneous absence of the challenge behavior. Otherwise, positive stimulation was interrupted if the challenge behavior was exhibited during its supply. Results showed an increasing of the adaptive responses and a decrease of the challenge behavior during intervention phases. All participants spent less time with the exhibition of challenge behavior, during intervention phases, compared to baseline sessions. Finally, the indices of happiness augmented during intervention phases. Clinical, practical and psychological implications of the findings are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Stasolla, Fabrizio] Lega Filo dOro Res Ctr, Molfetta, Italy.
[Perilli, Viviana] Lega Filo dOro Res Ctr, Lesmo, Italy.
[Damiani, Rita; Caffo, Alessandro O.; Di Leone, Antonia; Albano, Vincenza; Stella, Anna; Damato, Concetta] Univ Bari, Dept Educ Sci,Psychol,Commun, I-70121 Bari, Italy.
RP Stasolla, F (reprint author), Lega Filo dOro Res Ctr, Molfetta, Italy.
EM f.stasolla@psico.uniba.it
CR Baeza-Velasco C, 2014, RES AUTISM SPECT DIS, V8, P304, DOI 10.1016/j.rasd.2013.12.004
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Stasolla F, 2013, RES AUTISM SPECT DIS, V7, P1265, DOI 10.1016/j.rasd.2013.07.010
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NR 37
TC 3
Z9 3
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1071
EP 1078
DI 10.1016/j.rasd.2014.05.016
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600009
ER
PT J
AU Hambly, C
Fombonne, E
AF Hambly, Catherine
Fombonne, Eric
TI Factors influencing bilingual expressive vocabulary size in children
with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Language; Vocabulary; Bilingualism; Child
ID LANGUAGE; ENGLISH; TODDLERS; SKILLS
AB This study explored bilingual exposure, language, social impairment and cognitive factors that could influence second language (L2) expressive vocabulary size as measured on the MacArthur-Bates Communicative Development Inventories (various languages) in 33 children (mean age = 60 months) diagnosed with ASD. In the 23 children with L2 vocabularies, recent language exposure estimates accounted for 69% of the variation in L2 vocabulary size, and the VABS-II expressive scale score explained an additional 13% of the difference. The complete sample was then subgrouped into three levels of L2 vocabulary size to compare children with no L2 vocabularies (NON-B, n = 10), low L2 word counts (LOW-B, n = 11) and high L2 counts (HIGH-B, n = 12), as determined by a median split procedure. The HIGH-B group had significantly larger L1 vocabularies than both the LOW-B (p = .045) and the NON-B (p = .003) groups, and higher VABS-II expressive scale scores than both the LOW-B (p = .008) and the NON-B (p = .012) groups. Social impairment did not significantly differ across groups and cognitive impairment did not preclude the development of L2 vocabularies. Expressive bilingualism in this population appears related to high levels of recent direct L2 exposure in combination with stronger dominant language abilities. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Hambly, Catherine; Fombonne, Eric] Oregon Hlth & Sci Univ, Inst Dev & Disabil, Portland, OR 97239 USA.
RP Hambly, C (reprint author), 14 Gulf Lane, Galveston, TX 77550 USA.
EM catherine.hambly@mail.mcgill.ca
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NR 41
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1079
EP 1089
DI 10.1016/j.rasd.2014.05.013
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600010
ER
PT J
AU Uono, S
Sato, W
Toichi, M
AF Uono, Shota
Sato, Wataru
Toichi, Motorni
TI Reduced representational momentum for subtle dynamic facial expressions
in individuals with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Dynamic facial expression; Representational
momentum; Social impairment
ID PERVASIVE DEVELOPMENTAL DISORDER; EMOTIONAL EXPRESSIONS;
NORMAL-CHILDREN; HUMAN BRAIN; RECOGNITION; PERCEPTION; MOTION;
ADOLESCENTS; FACE; IMITATION
AB The cognitive mechanisms underlying social communication via emotional facial expressions are crucial for understanding the social impairments experienced by people with autism spectrum disorders (ASD). A recent study (Yoshikawa & Sato, 2008) found that typically developing individuals perceived the last image from a dynamic facial expression to be more emotionally exaggerated than a static facial expression; this perceptual difference is termed representational momentum (RM) for dynamic facial expressions. RM for dynamic facial expressions might be useful for detecting emotion in another's face and for predicting behavior changes. We examined RM for dynamic facial expressions using facial expression stimuli at three levels of emotional intensity (subtle, medium, and extreme) in people with ASD. We predicted that individuals with ASD would show reduced RM for dynamic facial expressions. Eleven individuals with ASD (three with Asperger's disorder and eight with pervasive developmental disorder not otherwise specified) and II IQ-, age- and gender-matched typically developing controls participated in this study. Participants were asked to select an image that matched the final image from dynamic and static facial expressions. Our results revealed that subjectively perceived images were more exaggerated for the dynamic than for the static presentation under all levels of intensity and in both groups. The ASD group, however, perceived a reduced degree of exaggeration for dynamic facial expressions under the subtle intensity condition. As facial expressions are often displayed subtly in daily communications, reduced RM for subtle dynamic facial expressions may prevent individuals with ASD from appropriately interacting with other people as a consequence of their difficulty detecting others' emotions. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Uono, Shota; Toichi, Motorni] Kyoto Univ, Fac Human Hlth Sci, Grad Sch Med, Sakyo Ku, Kyoto 6068507, Japan.
[Sato, Wataru] Kyoto Univ, Primate Res Inst, Hakubi Project, Inuyama, Aichi 4848506, Japan.
[Toichi, Motorni] Org Promoting Dev Disorder Res, Sakyo Ku, Kyoto 6068392, Japan.
RP Uono, S (reprint author), Kyoto Univ, Fac Human Hlth Sci, Grad Sch Med, Sakyo Ku, 53 Shogoin Kawahara Cho, Kyoto 6068507, Japan.
EM uonoshota1982@gmail.com
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NR 58
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1090
EP 1099
DI 10.1016/j.rasd.2014.05.018
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600011
ER
PT J
AU Nordahl-Hansen, A
Kaale, A
Ulvund, SE
AF Nordahl-Hansen, Anders
Kaale, Anett
Ulvund, Stein Erik
TI Language assessment in children with autism spectrum disorder:
Concurrent validity between report-based assessments and direct tests
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Language assessment; ASD; Concurrent validity; Reynell Developmental
Language Scales; Mullen Scales of Early Learning; Communicative
Development Inventory
ID COMMUNICATIVE DEVELOPMENT INVENTORIES; PRESCHOOL-CHILDREN;
YOUNG-CHILDREN; PREDICTIVE-VALIDITY; JOINT ATTENTION; MULLEN SCALES;
COMPREHENSION; ABILITY; PARENT; SKILLS
AB Impairments in expressive and receptive language are common in individuals with autism spectrum disorder (ASD). Therefore, the importance of language assessment is emphasized in e.g. DSM-5. Thus, studies addressing the validity of different language measures are important. Parents and preschool teachers of 55 children diagnosed with childhood autism separately filled out the Communicative Development Inventory (CDI), a widely used report-based assessment of language. The children were also tested with the two standardized direct language tests: Reynell Developmental Language Scales (RDLS) and Mullen Scales of Early Learning (MSEL). Concurrent validity across the three measures was investigated. The results suggested very high agreement between the measures, and this was found regardless of whether parents or preschool teachers filled out the CDI. Given the difficulty in testing children with low language levels, as often is the case in young children with ASD, this study shows that several valid measures are available for measuring expressive and receptive language. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Nordahl-Hansen, Anders; Ulvund, Stein Erik] Univ Oslo, Dept Educ, N-0317 Oslo, Norway.
[Kaale, Anett] Oslo Univ Hosp, Div Mental Hlth & Addict, N-0424 Oslo, Norway.
RP Nordahl-Hansen, A (reprint author), Univ Oslo, Dept Educ, POB 1092, N-0317 Oslo, Norway.
EM a.j.n.hansen@iped.uio.no
CR Akshoomoff N, 2006, CHILD NEUROPSYCHOL, V12, P269, DOI 10.1080/09297040500473714
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 37
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1100
EP 1106
DI 10.1016/j.rasd.2014.05.017
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600012
ER
PT J
AU King, ML
Takeguchi, K
Barry, SE
Rehfeldt, RA
Boyer, VE
Mathews, TL
AF King, Melissa L.
Takeguchi, Kazu
Barry, Shaina E.
Rehfeldt, Ruth Anne
Boyer, Valerie E.
Mathews, Therese L.
TI Evaluation of the iPad in the acquisition of requesting skills for
children with autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Requesting skills; iPad (R); Picture-based communication system
ID EXCHANGE COMMUNICATION-SYSTEM; VOICE OUTPUT COMMUNICATION;
SPEECH-GENERATING DEVICE; DEVELOPMENTAL-DISABILITIES; PECS
AB The iPad (R) with the Proloquo2Go (TM) application is designed to function as a speech-generating device (SGD). This study evaluates whether children with autism spectrum disorder (ASD) can acquire requesting skills using the iPad (R) with the Proloquo2Go (TM) application. Participants included three children with ASD between the ages of three and five. A multiple probe design across participants was used. Intervention phases were adapted and modified from the picture exchange communication system (PECS) (Bondy & Frost, 1994; Frost & Bondy, 2002). Results of this study support that children diagnosed with ASD can acquire skills needed to request preferred items using the iPad (R) with the Proloquo2Go (TM) application with training of a picture-based communication system. In addition, vocal requesting increased for the participants during the training phases in comparison to baseline probes. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [King, Melissa L.; Takeguchi, Kazu; Barry, Shaina E.; Rehfeldt, Ruth Anne; Boyer, Valerie E.] So Illinois Univ, Carbondale, IL 62901 USA.
[Mathews, Therese L.] Univ Nebraska, Med Ctr, Munroe Meyer Inst, Lincoln, NE 68583 USA.
RP King, ML (reprint author), So Illinois Univ, Carbondale, IL 62901 USA.
EM melissa.king@unmc.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Barlow D.H., 2009, AUGMENTATIVE ALTERNA
Boesch MC, 2013, RES AUTISM SPECT DIS, V7, P480, DOI 10.1016/j.rasd.2012.12.002
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Proloquo2Go, ACC YOUR POCK ASS WA
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Wodka E. L., 2013, PEDIATRICS, V131, pe1128
NR 29
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1107
EP 1120
DI 10.1016/j.rasd.2014.05.011
PG 14
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600013
ER
PT J
AU Hill, AP
Zuckerman, KE
Hagen, AD
Kriz, DJ
Duvall, SW
Van Santen, J
Nigg, J
Fair, D
Fombonne, E
AF Hill, Alison Presmanes
Zuckerman, Katharine E.
Hagen, Arlene D.
Kriz, Daniel J.
Duvall, Susanne W.
Van Santen, Jan
Nigg, Joel
Fair, Damien
Fombonne, Eric
TI Aggressive behavior problems in children with autism spectrum disorders:
Prevalence and correlates in a large clinical sample
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Psychotropic drugs; Aggression; Sleep;
Internalizing problems; Attention problems
ID CHALLENGING BEHAVIORS; PHYSICAL AGGRESSION; EARLY-CHILDHOOD;
INTELLECTUAL DISABILITIES; LANGUAGE IMPAIRMENT; YOUNG-PEOPLE;
RISK-FACTORS; TRAJECTORIES; SYMPTOMS; TODDLERS
AB Aggressive behavior problems (ABP) are frequent yet poorly understood in children with autism spectrum disorders (ASD) and are likely to co-vary significantly with comorbid problems. We examined the prevalence and sociodemographic correlates of ABP in a clinical sample of children with ASD (N = 400; 2-16.9 years). We also investigated whether children with ABP experience more intensive medical interventions, greater impairments in behavioral functioning, and more severe comorbid problems than children with ASD who do not have ABP. One in four children with ASD had Child Behavior Checklist scores on the Aggressive Behavior scale in the clinical range (T-scores >= 70). Sociodemographic factors (age, gender, parent education, race, ethnicity) were unrelated to ABP status. The presence of ABP was significantly associated with increased use of psychotropic drugs and melatonin, lower cognitive functioning, lower ASD severity, and greater comorbid sleep, internalizing, and attention problems. In multivariate models, sleep, internalizing, and attention problems were most strongly associated with ABP. These comorbid problems may hold promise as targets for treatment to decrease aggressive behavior and proactively identify high-risk profiles for prevention. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Hill, Alison Presmanes; Van Santen, Jan] Oregon Hlth & Sci Univ, Dept Pediat, Ctr Spoken Language Understanding, Portland, OR 97239 USA.
[Hill, Alison Presmanes; Hagen, Arlene D.; Kriz, Daniel J.; Duvall, Susanne W.; Van Santen, Jan; Fombonne, Eric] Oregon Hlth & Sci Univ, Inst Dev & Disabil, Portland, OR 97239 USA.
[Zuckerman, Katharine E.] Oregon Hlth & Sci Univ, Dept Pediat, Div Gen Pediat, Portland, OR 97239 USA.
[Zuckerman, Katharine E.] Oregon Hlth & Sci Univ, Dept Pediat, Child & Adolescent Hlth Measurement Initiat, Portland, OR 97239 USA.
[Hagen, Arlene D.; Nigg, Joel; Fair, Damien] Oregon Hlth & Sci Univ, Dept Psychiat, Portland, OR 97239 USA.
[Fair, Damien; Fombonne, Eric] Oregon Hlth & Sci Univ, Dept Behav Neurosci, Portland, OR 97239 USA.
RP Hill, AP (reprint author), 3181 Southwest Sam Jackson Pk Rd GH 40, Portland, OR 97239 USA.
EM hillali@ohsu.edu
CR Achenbach T, 2000, MANUAL ASEBA PRESCHO
Achenbach T. M., 2001, MANUAL ASEBA SCHOOL
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 73
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1121
EP 1133
DI 10.1016/j.rasd.2014.05.006
PG 13
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600014
ER
PT J
AU Rahbar, MH
Samms-Vaughan, M
Dickerson, AS
Loveland, KA
Ardjomand-Hessabi, M
Bressler, J
Lee, M
Shakespeare-Pellington, S
Grove, ML
Pearson, DA
Boervvinkle, E
AF Rahbar, Mohammad H.
Samms-Vaughan, Maureen
Dickerson, Aisha S.
Loveland, Katherine A.
Ardjomand-Hessabi, Manouchehr
Bressler, Jan
Lee, MinJae
Shakespeare-Pellington, Sydonnie
Grove, Megan L.
Pearson, Deborah A.
Boervvinkle, Eric
TI Role of fruits, grains, and seafood consumption in blood cadmium
concentrations of Jamaican children with and without Autism Spectrum
Disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Cadmium; Autism Spectrum Disorder; Grains; Fruits; Seafood; Jamaica
ID FISH CONSUMPTION; HEAVY-METALS; QUANTILE REGRESSION; CHILDHOOD AUTISM;
EXPOSURE; POPULATION; HAIR; LEAD; ACCUMULATION; ENVIRONMENT
AB Human exposure to cadmium has adverse effects on the nervous system. Utilizing data from 110 age- and sex-matched case-control pairs (220 children) ages 2-8 years in Kingston, Jamaica, we compared the 75th percentile of blood cadmium concentrations in children with and without Autism Spectrum Disorder (ASD). In both univariable and multivariable Quantile Regression Models that controlled for potential confounding factors, we did not find any significant differences between ASD cases and typically developing (TD) controls with respect to the 75th percentile of blood cadmium concentrations (P > 0.22). However, we found a significantly higher 75th percentile of blood cadmium concentrations in TD Jamaican children who consumed shellfish (lobsters, crabs) (P < 0.05), fried plantain (P < 0.01), and boiled dumpling (P < 0.01). We also observed that children living in Jamaica have an arithmetic mean blood cadmium concentration of 0.16 mu g/L which is similar to that of the children in developed countries and much lower than that of children in developing countries. Although our results do not support an association between blood cadmium concentrations and ASD, to our knowledge, this study is the first to report levels of blood cadmium in TD children as well as those with ASD in Jamaica. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Rahbar, Mohammad H.; Dickerson, Aisha S.; Boervvinkle, Eric] Univ Texas Hlth Sci Ctr Houston, Sch Publ Hlth, Div Epidemiol Human Genet & Environm Sci EHGES, Houston, TX 77030 USA.
[Rahbar, Mohammad H.; Lee, MinJae] Univ Texas Hlth Sci Ctr Houston, Dept Internal Med, Univ Texas Med Sch, Div Clin & Translat Sci, Houston, TX 77030 USA.
[Rahbar, Mohammad H.; Dickerson, Aisha S.; Ardjomand-Hessabi, Manouchehr] Univ Texas Hlth Sci Ctr Houston, CCTS, BERD, Houston, TX 77030 USA.
[Shakespeare-Pellington, Sydonnie] Univ W Indies, Dept Child & Adolescent Hlth, Kingston 7, Jamaica.
[Loveland, Katherine A.; Pearson, Deborah A.] Univ Texas Hlth Sci Ctr Houston, Univ Texas Med Sch, Dept Psychiat & Behav Sci, Houston, TX 77030 USA.
[Boervvinkle, Eric] Univ Texas Hlth Sci Ctr, Sch Publ Hlth, Ctr Human Genet, Houston, TX 77030 USA.
RP Rahbar, MH (reprint author), Univ Texas Hlth Sci Ctr Houston, Ctr Clin & Translat Sci, 6410 Fannin St,UT Professional Bldg Suite 1100-05, Houston, TX 77030 USA.
EM Mohammad.H.Rahbar@uth.tmc.edu; msammsvaughan@gmail.com;
Aisha.S.Dickerson@uth.tmc.edu; Katherine.A.Loveland@uth.tmc.edu;
Manouchehr.A.Hessabi@uth.tmc.edu; Jan.Bressler@uth.tmc.edu;
MinJae.Lee@uth.tmc.edu; sydonniesp@gmail.com; Megan.L.Grove@uth.tmc.edu;
Deborah.A.Pearson@uth.tmc.edu; Eric.Boerwinkle@uth.tmc.edu
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NR 68
TC 2
Z9 2
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1134
EP 1145
DI 10.1016/j.rasd.2014.06.002
PG 12
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600015
ER
PT J
AU Lacroix, A
Guidetti, M
Roe, B
Reilly, J
AF Lacroix, Agnes
Guidetti, Michele
Roge, Bernadette
Reilly, Judy
TI Facial emotion recognition in 4-to 8-year-olds with autism spectrum
disorder: A developmental trajectory approach
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Emotion recognition; Developmental delay
ID CHILDREN; EXPRESSIONS; FACES; PERCEPTION; VOICES; PEOPLE
AB The investigation of emotion recognition in autism spectrum disorder (ASD) has both theoretical and practical implications. However, although many studies have examined facial emotion recognition in ASD, some points remain unclear. We therefore studied facial emotion recognition in young children with ASD across a small age range, in order to determine (1) their ability to recognize emotion and (2) the developmental trajectory of this ability. Twenty-two children with ASD aged 4-8 years were compared with typically developing children matched on either chronological age or verbal mental age. We administered three facial emotion tasks: matching, identification, and labeling. Results showed that children with ASD and typically developing children had difficulty with labeling emotions, but not with matching or identifying them. Happiness was the easiest to recognize, and surprise the hardest. The children with ASD did not exhibit delayed onset in the development of facial emotion recognition. To conclude, emotion recognition difficulties in children with ASD primarily concern the recognition of negative emotions and the identification of surprise, as they do in TD groups. This should be taken into account in future research, as well as in the design of future intervention programs. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Lacroix, Agnes] Univ Rennes 2, Ctr Rech Psychol Cognit & Commun, EA 1285, F-35000 Rennes, France.
[Guidetti, Michele] Univ Toulouse 2, Octogone ECCD, Unite Rech Interdisciplinaire, EA 4156, F-31058 Toulouse 09, France.
[Roge, Bernadette] Univ Toulouse 2, Octogone CERPP, Unite Rech Interdisciplinaire ea 4156, F-31058 Toulouse 9, France.
[Reilly, Judy] San Diego State Univ, San Diego, CA 92182 USA.
RP Lacroix, A (reprint author), Univ Rennes 2, Ctr Rech Psychol Cognit & Commun, EA 1285, Pl Recteur Henri Moal, F-35000 Rennes, France.
EM agnes.lacroix@univ-rennes2.fr; guidetti@univ-tIse2.fr;
roge@univ-tIse2.fr; reillyl@mail.sdsu.edu
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NR 31
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1146
EP 1154
DI 10.1016/j.rasd.2014.05.012
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600016
ER
PT J
AU Sreckovic, MA
Brunsting, NC
Able, H
AF Sreckovic, Melissa A.
Brunsting, Nelson C.
Able, Harriet
TI Victimization of students with autism spectrum disorder: A review of
prevalence and risk factors
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Review
DE Autism; Bullying; Victimization; Risk factors
ID PEER VICTIMIZATION; BULLYING EXPERIENCES; YOUNG ADOLESCENTS;
GENERAL-EDUCATION; SCHOOL; CHILDREN; INTERVENTION; DISABILITIES;
FRIENDSHIP; ASSOCIATION
AB Bullying is a serious problem among school-aged youth. Research suggests students with autism spectrum disorder (ASD) are overrepresented as victims within the bullying dynamic. This review synthesizes 21 articles involving prevalence rates of victimization of school-age youth with ASD and factors related to the victimization of youth with ASD. Prevalence studies suggest students with ASD are frequent victims of bullying with victimization rates ranging by study methodology. Studies reporting factors related to the victimization of students with ASD include individual (i.e., characteristics of ASD, social vulnerability, behavior problems, disability, race, academic achievement, and age of student) and contextual (i.e., educational setting, school transportation, parental mental health, parental engagement and confidence, family socioeconomic status, and social support from peers and friendship) factors. Strategies for prevention and intervention are posed. Limitations and directions for future inquiry are addressed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Sreckovic, Melissa A.; Brunsting, Nelson C.; Able, Harriet] Univ N Carolina, Chapel Hill, NC 27515 USA.
RP Sreckovic, MA (reprint author), Peabody Hall 301,CB 3500, Chapel Hill, NC 27599 USA.
EM msreck@email.unc.edu; Brunnc3@live.unc.edu; hable@email.unc.edu
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Zablotsky B, 2013, J DEV BEHAV PEDIATR, V34, P1, DOI 10.1097/DBP.0b013e31827a7c3a
Zablotsky B, 2014, AUTISM, V18, P419, DOI 10.1177/1362361313477920
NR 87
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1155
EP 1172
DI 10.1016/j.rasd.2014.06.004
PG 18
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600017
ER
PT J
AU Zeedyk, SM
Rodriguez, G
Tipton, LA
Baker, BL
Blocher, J
AF Zeedyk, S. M.
Rodriguez, G.
Tipton, L. A.
Baker, B. L.
Blocher, J.
TI Bullying of youth with autism spectrum disorder, intellectual
disability, or typical development: Victim and parent perspectives
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Intellectual disability; Bullying; Adolescents; Friendship
ID HIGH-FUNCTIONING AUTISM; SOCIAL-SKILLS; ADOLESCENTS; FRIENDSHIP;
CHILDREN; PREVALENCE; SCHOOL; LONELINESS; VICTIMIZATION; ADJUSTMENT
AB In-depth interviews conducted separately with 13-year-olds with autism spectrum disorder (ASD), intellectual disability (ID), or typical development (TD) and their mothers investigated the experiences of victimization in the form of bullying. Coded constructs from the interviews were utilized to compare groups on the frequency, type, and impact of victimization. Youth with ASD were victimized more frequently than their ID or TO peers, and the groups differed with regard to the type of bullying and the impact it had, with ASD youth faring the worst. Higher internalizing problems and conflict in friendships were found to be significant predictors of victimization, according to both youth- and mother-reports. These predictors were found to be more salient than ASD status alone. Implications for practice are discussed. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Zeedyk, S. M.; Rodriguez, G.; Tipton, L. A.; Blocher, J.] Univ Calif Riverside, Grad Sch Educ, Attn SEARCH Ctr, Riverside, CA 92521 USA.
Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90095 USA.
RP Zeedyk, SM (reprint author), Univ Calif Riverside, Grad Sch Educ, Attn SEARCH Ctr, Riverside, CA 92521 USA.
EM szeed001@ucr.edu; geovanna.rodriguez@ucr.edu; Itipt001@ucr.edu;
baker@psych.ucla.edu; jan.blacher@ucr.edu
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NR 54
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1173
EP 1183
DI 10.1016/j.rasd.2014.06.001
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600018
ER
PT J
AU Still, K
Rehfeldt, RA
Whelan, R
May, R
Dymond, S
AF Still, Katharine
Rehfeldt, Ruth Anne
Whelan, Robert
May, Richard
Dymond, Simon
TI Facilitating requesting skills using high-tech augmentative and
alternative communication devices with individuals with autism spectrum
disorders: A systematic review
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Review
DE Augmentative alternative communication devices; Requesting; High-tech;
Technology; Autism
ID SEVERE DEVELOPMENTAL-DISABILITIES; SPEECH-GENERATING DEVICES; SKINNERS
VERBAL-BEHAVIOR; FUNCTIONAL COMMUNICATION; LANGUAGE-ACQUISITION;
YOUNG-CHILDREN; OUTPUT; PECS; STUDENTS; ADULTS
AB We conducted a systematic review to identify research studies that utilised high-tech devices (e.g., smartphone technology) to teach functional requesting skills to individuals under the age of 16 with a diagnosis of autism spectrum disorder (ASD). We identified 16 studies that included a total of 46 participants. Speech generating devices were the most frequently employed mode of communication, the most frequently requested items were preferred food or toys, and the maximum number of target-requesting skills taught was eight. Research has tended to utilise the multiple baseline design or a variant thereof (e.g., a multiple-probe design). Overall, the intervention results were largely positive, suggesting that high-tech devices can be successfully implemented as augmentative and alternative communication (AAC) devices for individuals with autism. Further research is needed to evaluate the claims made about high-tech AAC devices in facilitating requesting skills in children with ASD. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Still, Katharine; Dymond, Simon] Swansea Univ, Dept Psychol, Swansea SA2 8PP, W Glam, Wales.
[Rehfeldt, Ruth Anne] So Illinois Univ, Inst Rehabil, Carbondale, IL 62901 USA.
[Whelan, Robert] Univ Coll Dublin, Sch Psychol, Dublin 4, Ireland.
[May, Richard] Univ South Wales, Sch Psychol, Pontypridd CF37 1DL, M Glam, Wales.
RP Still, K (reprint author), Swansea Univ, Dept Psychol, Singleton Pk, Swansea SA2 8PP, W Glam, Wales.
EM k.a.still@swansea.ac.uk
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Wade W., 2013, APPSFORAAC LIST ALL
NR 85
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1184
EP 1199
DI 10.1016/j.rasd.2014.06.003
PG 16
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600019
ER
PT J
AU Bardikoff, N
McGonigle-Chalmers, M
AF Bardikoff, Nicole
McGonigle-Chalmers, Margaret
TI Testing nonverbal IQ in children with Autism Spectrum Disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE WISC-III; WISC-IV; KABC-II; Nonverbal IQ; Children with Autism; Spectrum
Disorders
ID HIGH-FUNCTIONING AUTISM; WECHSLER INTELLIGENCE SCALE; PROCESSING SPEED;
MATCHING STRATEGIES; ASPERGERS-SYNDROME; WISC-III; PROFILES; IV;
INDIVIDUALS; ABILITIES
AB 15 high-functioning school aged children with ASD and 15 neurotypically developing age matched controls were assessed using the WISC-IV and the KABC-II in order to assess whether the WISC-IV has rectified problems associated with the WISC-III's undue emphasis on timing measures. No significant group differences were found for the PRI sub-scale of the WISC-IV nor for the nonverbal scale of the KABC-II, but the ASD group scored significantly lower than controls on the Processing Speed Index of the WISC-IV. This supports the need to isolate of timing criteria when IQ testing in populations with ASD, as is now the case with the WISC-IV. However significantly higher scores were obtained for the KABC-II versus the PRI for children with ASD only. The reasons for this are discussed with regard to a possible cultural bias in the Picture Concepts subtest of the WISC-IV. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Bardikoff, Nicole; McGonigle-Chalmers, Margaret] Univ Edinburgh, Dept Psychol, Edinburgh EH8 9QU, Midlothian, Scotland.
RP Bardikoff, N (reprint author), Univ Edinburgh, Dept Psychol, 7 George Sq, Edinburgh EH8 9QU, Midlothian, Scotland.
EM n.bardikoff@ed-alumni.net; 12nb42@queensu.ca
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Wechsler D., 2003, WISC 4 TECHNICAL INT
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NR 33
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1200
EP 1207
DI 10.1016/j.rasd.2014.06.007
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600020
ER
PT J
AU Dixon, MR
Whiting, SW
Rowsey, K
Belisly, J
AF Dixon, Mark R.
Whiting, Seth W.
Rowsey, Kyle
Belisly, Jordan
TI Assessing the relationship between intelligence and the PEAK relational
training system
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE ABA therapy; Intelligence quotient; Language; Verbal behavior therapy
ID AUTISM SPECTRUM DISORDERS; BEHAVIORAL TREATMENT; CHILDREN; IQ;
PREDICTORS
AB The Promoting the Emergence of Advanced Knowledge (PEAK) Relational Training System is an assessment and curriculum tool developed for basic and advanced skills using behavior analytic approaches. The current study evaluated the relationship between intelligence (as measured by IQ scores) and performance on the PEAK assessment with children with autism or other developmental and intellectual disabilities. Each child was administered the PEAK assessment from the Direct Training Module. Scores from this assessment were compared to IQ scores for all participants to assess the relationship between the two measures. Results indicated a strong, significant correlation between scores on standardized IQ tests and scores on the PEAK assessment (r= .759, p< .01). The results demonstrated strong convergent validity and indicate that the PEAK may be a useful assessment and curriculum guide for training language and learning skills to individuals with autism and other developmental disabilities. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Dixon, Mark R.; Whiting, Seth W.; Rowsey, Kyle; Belisly, Jordan] So Illinois Univ, Carbondale, IL 62901 USA.
RP Dixon, MR (reprint author), So Illinois Univ, Carbondale, IL 62901 USA.
EM mdixon@siu.edu
CR Bishop SL, 2011, AJIDD-AM J INTELLECT, V116, P331, DOI 10.1352/1944-7558-116.5.331
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Dixon M. R, J DEV PHYS IN PRESS
Dixon M. R., 2014, PEAK RELATIONAL TRAI
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NR 20
TC 4
Z9 4
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1208
EP 1213
DI 10.1016/j.rasd.2014.05.005
PG 6
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600021
ER
PT J
AU Tomchek, SD
Huebner, RA
Dunn, W
AF Tomchek, Scott D.
Huebner, Ruth A.
Dunn, Winnie
TI Patterns of sensory processing in children with an autism spectrum
disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Sensory processing; Assessment
ID YOUNG-CHILDREN; ASPERGER SYNDROME; INFANTILE-AUTISM; MOTOR IMPAIRMENT;
LEARNING-DISABILITIES; DEVELOPMENTAL DELAY; TYPICAL DEVELOPMENT;
ADAPTIVE-BEHAVIOR; ABNORMALITIES; SYMPTOMS
AB The literature describing individuals with autism spectrum disorders (ASDs) commonly includes descriptions of differences in sensory processing. The purpose of this study was to describe patterns of sensory processing found in 400 children with an ASD. Exploratory factor analysis identified 6 parsimonious factors: low energy/weak, tactile and movement sensitivity, taste/smell sensitivity, auditory and visual sensitivity, sensory seeking/distractibility, and hypo-responsivity. These factors are consistent with other reports about differences in sensory processing. Findings provide insights about practice and future research. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Tomchek, Scott D.] Univ Louisville, Sch Med, Weisskopf Child Evaluat Ctr, Dept Pediat, Louisville, KY 40202 USA.
[Huebner, Ruth A.] Eastern Kentucky Univ, Richmond, KY USA.
[Tomchek, Scott D.; Dunn, Winnie] Univ Kansas, Med Ctr, Occupat Therapy Educ Program, Lawrence, KS 66045 USA.
RP Tomchek, SD (reprint author), Univ Louisville, Weisskopf Child Evaluat Ctr, Dept Pediat, 571 South Floyd St,Suite 100, Louisville, KY 40202 USA.
EM scott.tomchek@lousville.edu
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NR 82
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1214
EP 1224
DI 10.1016/j.rasd.2014.06.006
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600022
ER
PT J
AU Stern, JA
Gadgil, MS
Blakeley-Smith, A
Reaven, JA
Hepburn, SL
AF Stern, Jessica A.
Gadgil, Milind S.
Blakeley-Smith, Audrey
Reaven, Judy A.
Hepburn, Susan L.
TI Psychometric properties of the SCARED in youth with autism spectrum
disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Anxiety; Assessment; Validity; Factor analysis
ID CHILDRENS ANXIETY SCALE; TEST-RETEST RELIABILITY; EMOTIONAL DISORDERS;
DSM-IV; PSYCHIATRIC-DISORDERS; DIAGNOSTIC INTERVIEW; CO-MORBIDITY;
SCREEN; VALIDITY; ADOLESCENTS
AB Children with autism spectrum disorder (ASD) are at increased risk of developing co-occurring anxiety symptoms. However, the assessment of anxiety symptoms in this population is often challenging for researchers and clinicians. This study evaluated the psychometric properties of a questionnaire measure of child anxiety symptoms, the Screen for Child Anxiety Related Emotional Disorders (SCARED), in school-aged children and adolescents with high-functioning ASD. Children and parents recruited for an anxiety treatment study completed the SCARED parent and child versions prior to the start of treatment. Both versions demonstrated factor structures, internal reliability, and score distributions largely consistent with those from typically developing samples (Birmaher et al., 1999). The SCARED showed moderate convergent validity with a structured clinical interview and had good sensitivity and specificity. Differences were explored by child age, gender, and ethnicity. Together, these findings support the use of the SCARED as a valid assessment tool in an ASD population. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Stern, Jessica A.; Blakeley-Smith, Audrey; Reaven, Judy A.; Hepburn, Susan L.] Univ Colorado, Denver Sch Med, Dept Psychiat, Aurora, CO 80045 USA.
[Gadgil, Milind S.] Kaiser Permanente Colorado Reg, Hidden Lake Mental Hlth, Arvada, CO 80003 USA.
RP Hepburn, SL (reprint author), Univ Colorado, Denver Sch Med, Dept Psychiat, 13121 E 17th Pl,Mailstop C-234, Aurora, CO 80045 USA.
EM susan.hepburn@ucdenver.edu
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NR 51
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1225
EP 1234
DI 10.1016/j.rasd.2014.06.008
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600023
ER
PT J
AU Tung, LC
Huang, CY
Tseng, MH
Yen, HC
Tsai, YP
Lin, YC
Chen, KL
AF Tung, Li-Chen
Huang, Chien-Yu
Tseng, Mei-Hui
Yen, Hsui-Chen
Tsai, Yu-Pei
Lin, Yu-Ching
Chen, Kuan-Lin
TI Correlates of health-related quality of life and the perception of its
importance in caregivers of children with autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Health-related quality of life; Autism; Parenting stress; Behavior
problems
ID CHILDHOOD AUTISM; PARENTING STRESS; RATING-SCALE; DISORDERS; BEHAVIOR;
VERSION; MOTHERS; DISABILITY; VALIDITY; AGE
AB This study aims to investigate the correlates of health-related quality of life (HRQOL) and perceptions of the importance of each HRQOL domain in caregivers of children with autism. Eighty-two caregivers completed the World Health Organization Quality of Life and Parenting Stress Index Short Form to respectively measure the caregivers' HRQOL and parenting stress. The Childhood Autism Rating Scale and the Strength and Difficulties Questionnaire were used to respectively assess severity of autism and children's behavior problems. Results revealed that severity of autism, behavior problems, and parenting stress individually had low to moderate associations with HRQOL. However, all variables considered together, only parental distress (parent-related stress) significantly contributed to the four HRQOL domains. In addition, the physical domain was the most important HRQOL domain to caregivers, and environmental domain, the least. Knowledge of the correlates of HRQOL and the importance of each HRQOL domain could serve as guides for clinicians to improve the HRQOL of caregivers of children with autism by targeting parental distress and focusing on the HRQOL domains perceived as most important by caregivers. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Tung, Li-Chen; Yen, Hsui-Chen; Tsai, Yu-Pei] Chi Mei Med Ctr, Dept Phys Med & Rehabil, Tainan 710, Taiwan.
[Tung, Li-Chen] Kaohsiung Med Univ, Sch Med, Kaohsiung 807, Taiwan.
[Huang, Chien-Yu; Tseng, Mei-Hui] Natl Taiwan Univ, Coll Med, Sch Occupat Therapy, Taipei 100, Taiwan.
[Lin, Yu-Ching] Natl Cheng Kung Univ Hosp, Tainan 704, Taiwan.
[Chen, Kuan-Lin] Natl Cheng Kung Univ, Coll Med, Sch Occupat Therapy, Tainan 701, Taiwan.
RP Chen, KL (reprint author), Natl Cheng Kung Univ, Coll Med, Sch Occupat Therapy, 1 Univ Rd, Tainan 701, Taiwan.
EM klchen@mail.ncku.edu.tw
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NR 28
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1235
EP 1242
DI 10.1016/j.rasd.2014.06.010
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600024
ER
PT J
AU Hill, TL
Varela, RE
Kamps, JL
Niditch, LA
AF Hill, Trenesha L.
Varela, R. Enrique
Kamps, Jodi L.
Niditch, Laura A.
TI Local processing and social skills in children with Autism Spectrum
Disorders: The role of anxiety and cognitive functioning
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Local processing; Anxiety; Social skills;
Cognitive functioning
ID PERVASIVE DEVELOPMENTAL DISORDERS; WEAK CENTRAL COHERENCE; DIAGNOSTIC
INTERVIEW; INDIVIDUALS; ATTENTION; FACES; ASSOCIATION; PERFORMANCE;
PRECEDENCE; INVERSION
AB The present study examined the relations between anxiety, cognitive functioning, local processing, and social skills in a group of 102 children diagnosed with an Autism Spectrum Disorder. The results indicated that children diagnosed with Asperger's Disorder had significantly higher cognitive functioning and enhanced local processing (i.e., Block Design scores) compared to those diagnosed with Autistic Disorder or PDD-NOS. Regression analyses results showed that anxiety and cognitive functioning moderated the association between local processing and social skills. For children with low cognitive functioning and high anxiety, greater local processing was associated with poorer social skills than those with high cognitive functioning, high anxiety, and greater local processing. For children with high cognitive functioning and high anxiety, enhanced local processing was associated with better social skills than those with high cognitive functioning and reduced local processing. Implications of these findings are discussed. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Hill, Trenesha L.; Varela, R. Enrique; Niditch, Laura A.] Tulane Univ, Dept Psychol, New Orleans, LA 70118 USA.
[Kamps, Jodi L.] Childrens Hosp, New Orleans, LA 70118 USA.
RP Varela, RE (reprint author), Tulane Univ, Dept Psychol, 2007 Percival Stern Hall,6400 Freret St, New Orleans, LA 70118 USA.
EM thill@tulane.edu; evarela@tulane.edu; jkamps@chnola.org;
lniditch@tulane.edu
CR American Psychiatric Association, 2000, DIAGNOSTIC AND STATI
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Wechsler D., 2002, WECHSLER PRESCHOOL A
NR 33
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1243
EP 1251
DI 10.1016/j.rasd.2014.06.005
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600025
ER
PT J
AU Rosqvist, HB
AF Rosqvist, Hanna Bertilsdotter
TI Becoming an 'Autistic Couple': Narratives of Sexuality and Couplehood
Within the Swedish Autistic Self-advocacy Movement
SO SEXUALITY AND DISABILITY
LA English
DT Article
DE Couple; Autism; Autistic sexuality; Neurotypical sexuality;
Self-advocacy; Sweden
ID PARENTAL PERSPECTIVE; ADOLESCENTS; ADULTS; ATTITUDES; KNOWLEDGE;
DISORDER
AB Research on sexuality and autism is dominated by a sexually deficit view of autism. According to this view, people with autism are considered different from neurotypicals and in need of sexual education that is specially adapted to the social impairments of people with autism. Perspectives on sexuality, couplehood, and autism are gradually changing, and this is partly because of alternative views on autism expressed and advocated within autistic self-advocacy movements. The present paper explores discourses within the Swedish autistic self-advocacy movement of an 'autistic' sexuality and couplehood (sexuality and couplehood on people with autism's own terms). The analysis is based on articles in a Swedish magazine, Empowerment, published between 2002 and 2009 that was produced by and aimed at adults with autism.
C1 Umea Univ, Dept Social Work, S-90187 Umea, Sweden.
RP Rosqvist, HB (reprint author), Umea Univ, Dept Social Work, S-90187 Umea, Sweden.
EM hanna.bertilsdotter.rosqvist@umu.se
CR Areschoug J., 2005, J DISABIL RES, V7, P155
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NR 23
TC 1
Z9 1
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0146-1044
EI 1573-6717
J9 SEX DISABIL
JI Sex. Disabil.
PD SEP
PY 2014
VL 32
IS 3
BP 351
EP 363
DI 10.1007/s11195-013-9336-2
PG 13
WC Rehabilitation
SC Rehabilitation
GA AN4PN
UT WOS:000340570200009
ER
PT J
AU Byers, ES
Nichols, S
AF Byers, E. Sandra
Nichols, Shana
TI Sexual Satisfaction of High-Functioning Adults with Autism Spectrum
Disorder
SO SEXUALITY AND DISABILITY
LA English
DT Article
DE Sexual satisfaction; Autism spectrum disorder; Sexuality; Asperger
syndrome; Canada; United States
ID INTERPERSONAL EXCHANGE MODEL; RESPONSE RATES; HELP-SEEKING; QUOTIENT AQ;
ADOLESCENTS; SAMPLE; MEN; VALIDATION; VALIDITY; INDIVIDUALS
AB This study examined the validity of the Interpersonal Exchange Model of Sexual Satisfaction (IEMSS) as a framework for understanding the sexual satisfaction of 205 adults (77 men and 128 women) with high-functioning autism spectrum disorder (HF-ASD) who were in a romantic relationship of at least 3 months duration. Participants completed an online survey that included a background questionnaire, the IEMSS Questionnaire, and a measure of autism symptoms. The results provide support for the validity of the IEMSS in that all the IEMSS components (relationship satisfaction, balance of sexual rewards and costs, balance of relative sexual rewards and costs, equality of rewards, equality of costs) were significantly associated with sexual satisfaction. Relationship satisfaction and the balance of rewards and costs added over and above the other components. The model was not moderated by gender, relationship duration or extent of autism symptoms. However, participants with more autism symptoms related to social functioning reported lower sexual satisfaction as well as lower scores on all of the IEMSS components. There were few gender differences. These results are discussed in terms of the impact of HF-ASD on adults' experiences of their sexual satisfaction with their partner.
C1 [Byers, E. Sandra] Univ New Brunswick, Dept Psychol, Fredericton, NB E3B 5A3, Canada.
[Nichols, Shana] ASPIRE Ctr Learning & Dev, Melville, NY USA.
RP Byers, ES (reprint author), Univ New Brunswick, Dept Psychol, POB 4400, Fredericton, NB E3B 5A3, Canada.
EM byers@unb.ca
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NR 53
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0146-1044
EI 1573-6717
J9 SEX DISABIL
JI Sex. Disabil.
PD SEP
PY 2014
VL 32
IS 3
BP 365
EP 382
DI 10.1007/s11195-014-9351-y
PG 18
WC Rehabilitation
SC Rehabilitation
GA AN4PN
UT WOS:000340570200010
ER
PT J
AU Daley, TC
Weisner, T
Singhal, N
AF Daley, Tamara C.
Weisner, Thomas
Singhal, Nidhi
TI Adults with autism in India: A mixed-method approach to make meaning of
daily routines
SO SOCIAL SCIENCE & MEDICINE
LA English
DT Article
DE India; Autism Spectrum Disorders; Disability; Daily routine; Ecocultural
ID PARENTING STRESS; SPECTRUM DISORDERS; URBAN INDIA; CHILDREN;
PERSPECTIVES; DISABILITY; FAMILIES; LIFE
AB Although individuals with Autism Spectrum Disorder (ASD) have been diagnosed in India for over fifty years, virtually nothing is known about the social circumstances of adults, their daily lives, and their families. Where are adults with autism? How do they spend their time? Who are they with, and what are they doing all day? A mixed-method approach was used to obtain information on daily routines of 54 adults with ASD living in New Delhi, India, and about parent levels of stress associated with these routines during a study collected from January through June, 2013. Whether or not they attended a structured setting during the day (59% did so), adults engaged in some 20 activities both inside and outside their home. Contrary to our expectations, most adults were not "hidden" and were out in public at least on occasion. Higher functioning adults were more likely to attend a structured setting, but parents described challenging behaviors, both adult and parent preference, and lack of options as reasons that adults stayed home. The amount of time adults spent outside their home was not associated with parent reported stress, but stress was significantly higher for mothers who were employed. Most families described adaptation to caring for their adult children. A partnership with an Indian nongovernmental organization provided mechanisms to amplify our research findings, making them meaningful to our participants and others. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Daley, Tamara C.] Westat Corp, Durham, NC 27703 USA.
[Weisner, Thomas] Univ Calif Los Angeles, Dept Psychiat, Ctr Culture & Hlth, NPI Semel Inst Neurosci, Los Angeles, CA 90024 USA.
[Singhal, Nidhi] Act Autism, New Delhi 110025, India.
RP Daley, TC (reprint author), Westat Corp, 1009 Slater Rd, Durham, NC 27703 USA.
EM TamaraDaley@westat.com
FU Foundation for Psychocultural Research [59892]; Robert Lemelson,
President (FPR) - Culture, Brain, Development and Mental Health (CBDMH);
Action For Autism, New Delhi; FPR
FX This project is funded through a grant from the Foundation for
Psychocultural Research (Grant #59892), Robert Lemelson, President (FPR)
- Culture, Brain, Development and Mental Health (CBDMH) (Tom Weisner,
PI; Tamara Daley, Co-PI) and in partnership with Action For Autism, New
Delhi (Nidhi Singhal and Merry Barua). FPR-UCLA CBDMH is one of the
interdisciplinary programs initiated and funded by the FPR. The RAFIN
Adult study was managed by Deepali Taneja, with key assistance from
Sachita Suryanarayan. Additional team members in India were Tanvi Behl,
Rubina Pradhan, and Simi Sunny. Rachel Brezis also contributed to the
project while completing a postdoctorate at UCLA, supported by the FPR.
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NR 41
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0277-9536
J9 SOC SCI MED
JI Soc. Sci. Med.
PD SEP
PY 2014
VL 116
BP 142
EP 149
DI 10.1016/j.socscimed.2014.06.052
PG 8
WC Public, Environmental & Occupational Health; Social Sciences, Biomedical
SC Public, Environmental & Occupational Health; Biomedical Social Sciences
GA AN6HN
UT WOS:000340695700017
PM 24998867
ER
PT J
AU Delgado, MS
Camprubi, C
Tumer, Z
Martinez, F
Mila, M
Monk, D
AF Delgado, Marta Sanchez
Camprubi, Cristina
Tuemer, Zeynep
Martinez, Francisco
Mila, Montserrat
Monk, David
TI Screening Individuals with Intellectual Disability, Autism and
Tourette's Syndrome for KCNK9 Mutations and Aberrant DNA Methylation
within the 8q24 Imprinted Cluster
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
LA English
DT Article
DE Imprinting; methylation; KCNK9; autism spectrum disorder; intellectual
disability
ID MENTAL-RETARDATION; GENE; EXPRESSION; TRAPPC9; UBE3A; IDENTIFICATION;
HETEROGENEITY; DEFICIENCY; TRANSCRIPT; DISORDERS
AB The phenotype overlap between autism spectrum disorders (ASD) & intellectual disabilities (ID) is mirrored at the genetic level, with common genes being reported mutated in variety of developmental disabilities. However despite widespread genetic screening for mutations, in approximately 40-60% of childhood developmental disorders the genetic cause remains unknown. Several genome-wide linkage screens in ASD have identified a locus mapping to distal 8q. We have recently identified a novel brain-specific imprinted cluster at this location, which contains the reciprocally expressed maternal KCNK9 and paternally expressed non-coding PEG13 transcripts, the latter located within an intron of TRAPPC9. Interestingly, mutations of KCNK9 and TRAPPC9 have been reported in Birk-Barel mental retardation and non-syndromic familial forms of ID, respectively. Here, we report a genetic screen for KCNK9 coding mutations and potential epigenetic aberrations that could result in deregulated imprinting in a cohort of 120 ID, 86 ASD and 86 Tourette syndrome patients. Fifteen of the ID patients had clinical characteristics overlapping with Birk-Barel syndrome. Sequencing of the two coding exons of KCNK9 failed to identify pathologic mutations, with only one variant, rs2615374, being present with allele frequencies similar to those described in dbSNP database. DNA methylation profiling of the KCNK9 and TRAPPC9 promoters, the maternally methylated PEG13 DMR and a long-range enhancer region were normal in all patients. Our findings suggest that mutations of KCNK9 or epigenetic disturbances within the PEG13 imprinted cluster do not significantly contribute to the cause of the developmental disabilities tested in this study. (C) 2014 Wiley Periodicals, Inc.
C1 [Delgado, Marta Sanchez; Camprubi, Cristina; Monk, David] Bellvitge Inst Biomed Res IDIBELL, Imprinting & Canc Grp, Canc Epigenet & Biol Program PEBC, Barcelona 08907, Spain.
[Tuemer, Zeynep] Rigshosp, Copenhagen Univ Hosp, Kennedy Ctr, Appl Human Mol Genet, Glostrup, Denmark.
[Martinez, Francisco] Hosp Univ La Fe, Unitat Genet, Valencia, Spain.
[Mila, Montserrat] CIBERER, Barcelona, Spain.
RP Monk, D (reprint author), Unidad Genet Med Sistemas Genom SL, Valencia 46980, Spain.
EM dmonk@idibell.cat
RI Martinez, Francisco/A-2543-2009
OI Martinez, Francisco/0000-0002-0589-2584
FU Spanish Ministerio de Educacion y Ciencia [BFU2011-27658]; Fundacio La
Marato de TV3 [101130]; Lundbeck Foundation [R24-A2419]
FX Grant sponsor: Spanish Ministerio de Educacion y Ciencia (grant number
BFU2011-27658 to DM) and the Fundacio La Marato de TV3 (101130 to DM)
and Lundbeck Foundation (R24-A2419 to ZT).
CR Abou Jamra R, 2011, EUR J HUM GENET, V19, P1161, DOI 10.1038/ejhg.2011.98
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NR 35
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4841
EI 1552-485X
J9 AM J MED GENET B
JI Am. J. Med. Genet. B
PD SEP
PY 2014
VL 165
IS 6
BP 472
EP 478
DI 10.1002/ajmg.b.32250
PG 7
WC Genetics & Heredity; Psychiatry
SC Genetics & Heredity; Psychiatry
GA AN3OF
UT WOS:000340497100003
ER
PT J
AU Rowe, G
Nevin, H
AF Rowe, Gareth
Nevin, Helen
TI Bringing 'patient voice' into psychological formulations of in-patients
with intellectual disabilities, autism spectrum disorder and severe
challenging behaviours: report of a service improvement pilot
SO BRITISH JOURNAL OF LEARNING DISABILITIES
LA English
DT Article
DE Autism; challenging behaviour; communication; learning (intellectual)
disabilities; nursing; profound and complex learning disabilities
ID MENTAL-HEALTH; INDIVIDUALS; PEOPLE; CHOICE; QUESTION; CHILDREN; QUALITY;
ADULTS; LIFE; CARE
AB This is a report of a service improvement pilot project undertaken at an inpatient autism service for adults with intellectual disabilities and severe challenging behaviours. Within the service, a key facet of the care pathway was the use of a biopsychosocial case formulation. Formulation meetings were led by psychology and involved a full multidisciplinary team and external representation. However, routine invitation of patients was not appropriate due to anxiety and complex communication difficulties. Therefore, the service was looking for alternative ways to incorporate the voices of patients into formulation. This report presents the case studies of four individual patients who were chosen because together they were indicative of the patient profile across the service. The study has demonstrated that it is possible to include patients' voices in their psychological formulation. For those with mild intellectual disabilities and mild autism spectrum disorder, this has been simple and extremely fruitful. For those with severe intellectual disability and severe autism spectrum disorder this has been more resource intensive and the results have been more tentative. Despite this, it has been demonstrated that it is possible to include the voices of all patients to some extent.
C1 [Rowe, Gareth; Nevin, Helen] Northumberland Tyne & Wear NHS Fdn Trust, Northgate Hosp, Morpeth NE61 3BP, England.
RP Rowe, G (reprint author), Northumberland Tyne & Wear NHS Fdn Trust, Northgate Hosp, Morpeth NE61 3BP, England.
EM helen.nevin@ntw.nhs.uk
CR Agnew SE, 2006, LEGAL CRIMINOL PSYCH, V11, P35, DOI 10.1348/135532505X68494
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NR 53
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1354-4187
EI 1468-3156
J9 BRIT J LEARN DISABIL
JI Brit. J. Learn. Disabil.
PD SEP
PY 2014
VL 42
IS 3
BP 177
EP 184
DI 10.1111/bld.12026
PG 8
WC Education, Special
SC Education & Educational Research
GA AN4BW
UT WOS:000340533600002
ER
PT J
AU Leonard, HC
Hill, EL
AF Leonard, Hayley C.
Hill, Elisabeth L.
TI Review: The impact of motor development on typical and atypical social
cognition and language: a systematic review
SO CHILD AND ADOLESCENT MENTAL HEALTH
LA English
DT Review
DE Motor development; social cognition; autism spectrum disorders;
developmental coordination disorder; specific language impairment
ID SCHOOL-AGED CHILDREN; COORDINATION DISORDER; PRESCHOOL-CHILDREN;
KINDERGARTEN-CHILDREN; BEHAVIORAL-PROBLEMS; AUTISM SPECTRUM; ARM
MOVEMENTS; IMPAIRMENT; INFANTS; SKILLS
AB Background: Motor development allows infants to gain knowledge of the world but its vital role in social development is often ignored. Method: A systematic search for papers investigating the relationship between motor and social skills was conducted, including research in typical development and in Developmental Coordination Disorder, Autism Spectrum Disorders and Specific Language Impairment. Results: The search identified 43 studies, many of which highlighted a significant relationship between motor skills and the development of social cognition, language and social interactions. Conclusions: This complex relationship requires more attention from researchers and practitioners, allowing the development of more tailored intervention techniques for those at risk of motor, social and language difficulties.
[GRAPHICS]
.
C1 [Leonard, Hayley C.; Hill, Elisabeth L.] Univ London, Dept Psychol, London SE14 6NW, England.
RP Leonard, HC (reprint author), Univ London, Dept Psychol, London SE14 6NW, England.
EM h.leonard@gold.ac.uk
FU British Academy Small Grant [SG100507]; Nuffield Foundation Small Grant
[SGS38957]
FX This study was supported by a British Academy Small Grant (SG100507) and
a Nuffield Foundation Small Grant (SGS38957) to E. L. H. The authors
have declared that they have no competing or potential conflicts of
interest.
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NR 74
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1475-357X
EI 1475-3588
J9 CHILD ADOL MENT H-UK
JI Child Adolesc. Ment. Health
PD SEP
PY 2014
VL 19
IS 3
BP 163
EP 170
DI 10.1111/camh.12055
PG 8
WC Psychology, Clinical; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AN3RU
UT WOS:000340507000002
ER
PT J
AU Timimi, S
AF Timimi, Sami
TI Back to Normal: Why Ordinary Behaviour is Mistaken for ADHD, Bipolar
Disorder, and Autism Spectrum Disorder
SO CHILD AND ADOLESCENT MENTAL HEALTH
LA English
DT Book Review
C1 [Timimi, Sami] Lincolnshire Partnership NHS Fdn Trust, Lincoln, England.
[Timimi, Sami] Lincoln Univ, Lincoln, England.
RP Timimi, S (reprint author), Lincolnshire Partnership NHS Fdn Trust, Lincoln, England.
CR GNAULTI E, 2013, BACK NORMAL WHY ORDI
NR 1
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1475-357X
EI 1475-3588
J9 CHILD ADOL MENT H-UK
JI Child Adolesc. Ment. Health
PD SEP
PY 2014
VL 19
IS 3
BP 224
EP 224
DI 10.1111/camh.12073_6
PG 1
WC Psychology, Clinical; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AN3RU
UT WOS:000340507000016
ER
PT J
AU Horan, W
Pineda, J
Wynn, J
Iacoboni, M
Green, M
AF Horan, William P.
Pineda, Jaime A.
Wynn, Jonathan K.
Iacoboni, Marco
Green, Michael F.
TI Some markers of mirroring appear intact in schizophrenia: evidence from
mu suppression
SO COGNITIVE AFFECTIVE & BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE mu suppression; Schizophrenia; Mirror neuron system; Empathy
ID AUTISM SPECTRUM DISORDERS; PSYCHIATRIC RATING-SCALE; BORDERLINE
PERSONALITY-DISORDER; SOCIAL COGNITION; NEURON DYSFUNCTION; EMPATHIC
ACCURACY; IMITATION; NEUROSCIENCE; MECHANISMS; PSYCHOSIS
AB Although schizophrenia is associated with impairments in social cognition, the scope and neural correlates of these disturbances are largely unknown. In this study, we investigated whether schizophrenia patients show impaired functioning of the mirror neuron system (MNS), as indexed by electroencephalographic (EEG) mu (8-13 Hz) suppression, a hypothesized biomarker of MNS activity that is sensitive to the degree of social interaction depicted in visual stimuli. A total of 32 outpatients and 26 healthy controls completed an EEG paradigm that included six action observation or execution conditions that differed in their degrees of social interaction. Participants also completed a validated empathy questionnaire. Across both groups, we found a significant linear increase in mu suppression across the conditions involving greater levels of social engagement and interaction, but no significant group or interaction effects. Patients self-reported diminished empathic concern and perspective taking, which showed some moderate relations to mu suppression levels. Thus, the schizophrenia group showed generally intact modulation of MNS functioning at the electrophysiological level, despite self-reporting empathic disturbances. The disturbances commonly seen on self-report, performance, and neuroimaging measures of mentalizing in schizophrenia may largely reflect difficulties with higher-level inferential processes about others' emotions, rather than a basic incapacity to share in these experiences.
C1 [Horan, William P.; Wynn, Jonathan K.; Green, Michael F.] Univ Calif Los Angeles, VA Greater Angeles Healthcare Syst, Los Angeles, CA 90073 USA.
[Pineda, Jaime A.] Univ Calif San Diego, San Diego, CA 92103 USA.
[Iacoboni, Marco] Univ Calif Los Angeles, Los Angeles, CA USA.
RP Horan, W (reprint author), Univ Calif Los Angeles, VA Greater Angeles Healthcare Syst, MIRECC 210A,Bldg 210,11301 Wilshire Blvd, Los Angeles, CA 90073 USA.
EM horan@ucla.edu
FU Abbott Laboratories; Amgen; Cypress; Lundbeck; Teva; Otsuka; Sunovion;
VA Career Development Award; NIMH [MH065707, MH43292]
FX M.F.G. reports having received consulting fees from Abbott Laboratories,
Amgen, Cypress, Lundbeck, and Teva. He has received speaking fees from
Otsuka and Sunovion. The rest of the authors report no biomedical
financial interests or potential conflicts of interest. Support for this
study came from a VA Career Development Award (to W. P. H.) and from
NIMH Grant Nos. MH065707 and MH43292 (M. F. G.). The authors thank
Amanda Bender, Michelle Dolinsky, Crystal Gibson, Cory Tripp, and
Katherine Weiner for assistance in the data collection.
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NR 68
TC 2
Z9 2
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1530-7026
EI 1531-135X
J9 COGN AFFECT BEHAV NE
JI Cogn. Affect. Behav. Neurosci.
PD SEP
PY 2014
VL 14
IS 3
BP 1049
EP 1060
DI 10.3758/s13415-013-0245-8
PG 12
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AN3FT
UT WOS:000340471500013
PM 24415272
ER
PT J
AU Radell, M
Mercado, E
AF Radell, Milen L.
Mercado, Eduardo, III
TI Modeling possible effects of atypical cerebellar processing on eyeblink
conditioning in autism
SO COGNITIVE AFFECTIVE & BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE Classical conditioning; Cerebellum; Computational model; Autistic;
Interneuron; Timing
ID PARALLEL FIBER SYNAPSES; PURKINJE-CELL ACTIVITY; LONG-TERM DEPRESSION;
FRAGILE-X-SYNDROME; SPECTRUM DISORDERS; ALZHEIMERS-DISEASE;
NEUROPSYCHIATRIC DISORDERS; FUNCTIONAL SPECIALIZATION; ASCENDING AXON;
NETWORK MODEL
AB Autism is unique among other disorders in that acquisition of conditioned eyeblink responses is enhanced in children, occurring in a fraction of the trials required for control participants. The timing of learned responses is, however, atypical. Two animal models of autism display a similar phenotype. Researchers have hypothesized that these differences in conditioning reflect cerebellar abnormalities. The present study used computer simulations of the cerebellar cortex, including inhibition by the molecular layer interneurons, to more closely examine whether atypical cerebellar processing can account for faster conditioning in individuals with autism. In particular, the effects of inhibitory levels on delay eyeblink conditioning were simulated, as were the effects of learning-related synaptic changes at either parallel fibers or ascending branch synapses from granule cells to Purkinje cells. Results from these simulations predict that whether molecular layer inhibition results in an enhancement or an impairment of acquisition, or changes in timing, may depend on (1) the sources of inhibition, (2) the levels of inhibition, and (3) the locations of learning-related changes (parallel vs. ascending branch synapses). Overall, the simulations predict that a disruption in the balance or an overall increase of inhibition within the cerebellar cortex may contribute to atypical eyeblink conditioning in children with autism and in animal models of autism.
C1 [Radell, Milen L.; Mercado, Eduardo, III] SUNY Buffalo, Dept Psychol, Buffalo, NY 14260 USA.
RP Radell, M (reprint author), SUNY Buffalo, Dept Psychol, Pk Hall, Buffalo, NY 14260 USA.
EM mlradell@buffalo.edu
FU NSF [SMA-1041755]
FX This work was supported in part by a grant to E. Mercado, from NSF grant
#SMA-1041755 to the Temporal Dynamics of Learning Center, an NSF Science
of Learning Center.
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NR 83
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1530-7026
EI 1531-135X
J9 COGN AFFECT BEHAV NE
JI Cogn. Affect. Behav. Neurosci.
PD SEP
PY 2014
VL 14
IS 3
BP 1142
EP 1164
DI 10.3758/s13415-014-0263-1
PG 23
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AN3FT
UT WOS:000340471500020
PM 24590391
ER
PT J
AU Ostuzzi, G
Barbui, C
AF Ostuzzi, G.
Barbui, C.
TI Autism spectrum disorders: weighing the risk of SSRI exposure in
pregnancy
SO EPIDEMIOLOGY AND PSYCHIATRIC SCIENCES
LA English
DT Article
DE Autism spectrum disorders; maternal depression; pregnancy; selective
serotonin reuptake inhibitors..
ID ANTIDEPRESSANT USE
AB A possible link between prenatal exposure to the selective serotonin reuptake inhibitors (SSRIs) and development of autism spectrum disorders (ASDs), previously suggested by two case-control studies, was not confirmed by a recent cohort study that followed for 5-10 years more than 600,000 births. However, this study failed to demonstrate that SSRI exposure during pregnancy is safe in terms of child development outcomes, as an increased risk of ASDs cannot be completely ruled out. In the present article, the main strengths and weaknesses of this study are briefly analysed, including a possibility of confounding by indication.
C1 [Ostuzzi, G.; Barbui, C.] Univ Verona, Dept Publ Hlth & Community Med, Sect Psychiat, I-37134 Verona, Italy.
RP Barbui, C (reprint author), Univ Verona, Dept Publ Hlth & Community Med, Sect Psychiat, Piazzale LA Scuro 10, I-37134 Verona, Italy.
EM corrado.barbui@univr.it
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NR 10
TC 1
Z9 1
PU CAMBRIDGE UNIV PRESS
PI CAMBRIDGE
PA EDINBURGH BLDG, SHAFTESBURY RD, CB2 8RU CAMBRIDGE, ENGLAND
SN 2045-7960
EI 2045-7979
J9 EPIDEMIOL PSYCH SCI
JI Epidemiol. Psychiatr. Sci.
PD SEP
PY 2014
VL 23
IS 3
BP 231
EP 233
DI 10.1017/S2045796014000286
PG 3
WC Psychiatry
SC Psychiatry
GA AN2FR
UT WOS:000340400000005
PM 24786563
ER
PT J
AU Calderoni, S
Bellani, M
Hardan, AY
Muratori, F
Brambilla, P
AF Calderoni, S.
Bellani, M.
Hardan, A. Y.
Muratori, F.
Brambilla, P.
TI Basal ganglia and restricted and repetitive behaviours in Autism
Spectrum Disorders: current status and future perspectives
SO EPIDEMIOLOGY AND PSYCHIATRIC SCIENCES
LA English
DT Article
DE Autism spectrum disorders (ASD); basal ganglia; structural magnetic
resonance imaging (sMRI); volumes
ID CAUDATE-NUCLEUS; BRAIN ANATOMY; VOLUME; PERFORMANCE; STRIATUM; FOCUS
AB This editorial offers a concise overview of the recent structural magnetic resonance imaging studies that evaluate the basal ganglia (BG) volumes in autism spectrum disorders (ASD). The putative relationship between the repetitive or stereotyped behaviours of ASD and BG volumes is also explored, with a focus on possible translational approaches.
C1 [Calderoni, S.; Muratori, F.] IRCCS Stella Maris Fdn, Pisa, Italy.
[Bellani, M.] Univ Verona, ICBN, Dept Publ Hlth & Community Med, Sect Psychiat, I-37100 Verona, Italy.
[Bellani, M.] Univ Verona, ICBN, Sect Clin Psychol, I-37100 Verona, Italy.
[Hardan, A. Y.] Stanford Univ, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA.
[Muratori, F.] Univ Pisa, Dept Clin & Expt Med, I-56100 Pisa, Italy.
[Brambilla, P.] Univ Udine, ICBN, Dept Expt & Clin Med, I-33100 Udine, Italy.
[Brambilla, P.] UDGEE, IRCCS E Medea Sci Inst, Udine, Italy.
RP Bellani, M (reprint author), Univ Verona, Dept Publ Hlth & Community Med, Sect Psychiat, Piazzale LA Scuro 10, I-37134 Verona, Italy.
EM marcella.bellani@univr.it
FU Italian Ministry of Health; Tuscany Region [GR-2010-2317873]; European
Union
FX S. C. was partly supported by the Italian Ministry of Health and by
Tuscany Region with the grant 'GR-2010-2317873'. F. M. and S. C. were
partly supported by the European Union (The MICHELANGELO Project). The
other authors received no specific grant from any funding agency,
commercial or not-for-profit sectors for this publication.
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Bellani M, 2013, EPIDEMIOL PSYCH SCI, V22, P309, DOI 10.1017/S2045796013000346
Bellani M, 2013, EPIDEMIOL PSYCH SCI, V22, P217, DOI 10.1017/S2045796013000139
Estes A, 2011, AUTISM RES, V4, P212, DOI 10.1002/aur.193
Hardan AY, 2003, J CHILD NEUROL, V18, P317, DOI 10.1177/08830738030180050801
Haznedar MM, 2006, AM J PSYCHIAT, V163, P1252, DOI 10.1176/appi.ajp.163.7.1252
Hollander E, 2005, BIOL PSYCHIAT, V58, P226, DOI 10.1016/j.biopsych.2005.03.040
Langen M, 2007, BIOL PSYCHIAT, V62, P262, DOI 10.1016/j.biopsych.2006.09.040
Langen M, 2009, BIOL PSYCHIAT, V66, P327, DOI 10.1016/j.biopsych.2009.03.017
Langen M, BIOL PSYCHI IN PRESS
Mandy WPL, 2008, J CHILD PSYCHOL PSYC, V49, P795, DOI 10.1111/j.1469-7610.2008.01911.x
Rojas DC, 2006, BMC PSYCHIATRY, V6, DOI 10.1186/1471-244X-6-56
Voelbel GT, 2006, BIOL PSYCHIAT, V60, P942, DOI 10.1016/j.biopsych.2006.03.071
Wolff JJ, 2013, J NEURODEV DISORD, V5, DOI 10.1186/1866-1955-5-12
NR 14
TC 0
Z9 0
PU CAMBRIDGE UNIV PRESS
PI CAMBRIDGE
PA EDINBURGH BLDG, SHAFTESBURY RD, CB2 8RU CAMBRIDGE, ENGLAND
SN 2045-7960
EI 2045-7979
J9 EPIDEMIOL PSYCH SCI
JI Epidemiol. Psychiatr. Sci.
PD SEP
PY 2014
VL 23
IS 3
BP 235
EP 238
DI 10.1017/S2045796014000171
PG 4
WC Psychiatry
SC Psychiatry
GA AN2FR
UT WOS:000340400000006
PM 24816251
ER
PT J
AU Witmer, SE
Ferreri, SJ
AF Witmer, Sara E.
Ferreri, Summer J.
TI Alignment of Instruction, Expectations, and Accountability Testing for
Students With Autism Spectrum Disorder
SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE assessment; inclusion; instruction
ID OBJECTIVE DATA SOURCES; TEST ACCOMMODATIONS; TEACHER JUDGMENTS;
DISABILITIES; PARTICIPATION; PERFORMANCE; MATHEMATICS; STANDARDS;
MODERATE; CHILDREN
AB Current large-scale assessment and accountability policies in the United States emphasize the need for all students to be appropriately included. However, there are many challenges to effective inclusion. Students with autism spectrum disorder (ASD) exhibit unique social communication and behavior challenges that can hinder their effective inclusion in instruction and testing. However, no studies have systematically examined how this unique group of students is currently included in accountability programs. A statewide representative sample of 191 teachers selected a student with ASD and reported on (a) the extent to which the student received instruction according to the general curriculum, (b) the teacher's academic expectations for the student, and (c) the method by which the student participated in accountability testing. Results indicated that many students were reported to rarely receive instruction according to the general curriculum, and many were reported to participate in an alternate assessment.
C1 [Witmer, Sara E.; Ferreri, Summer J.] Michigan State Univ, E Lansing, MI 48824 USA.
RP Witmer, SE (reprint author), Michigan State Univ, 620 Farm Lane,Rm 434, E Lansing, MI 48824 USA.
EM sbolt@msu.edu
CR Agran M, 2002, EDUC TRAIN MENT RET, V37, P123
Altman J., 2008, 70 U MINN NAT CTR ED
Browder D. M., 2011, TEACHING STUDENTS MO
Browder DM, 2012, J SPEC EDUC, V46, P26, DOI 10.1177/0022466910369942
Carr-George C, 2009, BEHAV DISORDERS, V35, P66
Christenson SL, 2007, EDUC POLICY, V21, P662, DOI 10.1177/0895904806289209
Collins BC, 2011, EDUC TRAIN AUTISM DE, V46, P22
Curcic S, 2009, INT J INCLUSIVE EDUC, V13, P517, DOI 10.1080/13603110801899585
Dempsey I., 2005, AUST J EDUC, V49, P152
Farrell P., 2009, EUROPEAN J SPECIAL N, V24, P407
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Herman J. L., 1992, PRACTICAL GUIDE ALTE
Jennett HK, 2003, J AUTISM DEV DISORD, V33, P583, DOI 10.1023/B:JADD.0000005996.19417.57
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Olson J. F., 1996, INCREASING INCLUSION, V2
Rutter M., 1994, CHILD ADOL PSYCH CL, P569
Ryndak D. L., 2000, EXCEPTIONALITY, V8, P101, DOI 10.1207/S15327035EX0802_2
Seyfarth A., 1997, 29 U MINN NAT CTR ED
SRI International, 2003, SPEC ED EL LONG STUD
Taylor M. F., 2012, AUSTRALASIAN J SPECI, V36, P97
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Thurlow M. L., 1998, TESTING STUDENTS DIS
Tindal G, 1998, EXCEPT CHILDREN, V64, P439
U.S. Department of Education, 2002, NO CHILD LEFT ACT 20
Weston T., 1999, ANN M AM ED RES ASS
Ysseldyke J. E., 1994, 13 U MINN NAT CTR ED
NR 32
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1088-3576
EI 1538-4829
J9 FOCUS AUTISM DEV DIS
JI Focus Autism Dev. Disabil.
PD SEP
PY 2014
VL 29
IS 3
BP 131
EP 144
DI 10.1177/1088357614522294
PG 14
WC Education, Special; Psychology, Developmental; Rehabilitation
SC Education & Educational Research; Psychology; Rehabilitation
GA AN4HA
UT WOS:000340547100001
ER
PT J
AU Ehrenreich-May, J
Storch, EA
Queen, AH
Rodriguez, JH
Ghilain, CS
Alessandri, M
Lewin, AB
Arnold, EB
Murphy, TK
Lin, CE
Fujii, C
Renno, P
Piacentini, J
Laugeson, E
Wood, JJ
AF Ehrenreich-May, Jill
Storch, Eric A.
Queen, Alexander H.
Rodriguez, Juventino Hernandez
Ghilain, Christine S.
Alessandri, Michael
Lewin, Adam B.
Arnold, Elysse B.
Murphy, Tanya K.
Lin, C. Enjey
Fujii, Cori
Renno, Patricia
Piacentini, John
Laugeson, Elizabeth
Wood, Jeffrey J.
TI An Open Trial of Cognitive-Behavioral Therapy for Anxiety Disorders in
Adolescents With Autism Spectrum Disorders
SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE autism spectrum disorders; anxiety; comorbid conditions; evidence-based
practices
ID PERVASIVE DEVELOPMENTAL DISORDERS; OBSESSIVE-COMPULSIVE DISORDER;
RANDOMIZED CONTROLLED-TRIAL; ASPERGER-SYNDROME; PSYCHOSOCIAL TREATMENTS;
INTERVIEW SCHEDULE; DSM-IV; CHILDHOOD ANXIETY; PARENT VERSION; CHILDREN
AB The frequent co-occurrence of anxiety disorders and autism spectrum disorders (ASD) in youth has spurred study of intervention practices for this population. As anxiety disorders in the absence of ASD are effectively treated using cognitive-behavioral therapy (CBT) protocols, an initial step in evaluating treatments for comorbid youth has necessarily centered on adaptation of CBT. One primary limitation of this research, to date, is that interventions for adolescents with anxiety disorders and ASD have not been systematically tested. In this study, 20 adolescents (90% male) with ASD and a comorbid anxiety disorder, between ages 11 and 14 years (M = 12.2 years, SD = 1.11 years), participated in an open trial of modified CBT targeting anxiety with ASD. Findings demonstrated significant reductions in anxiety severity, as assessed by clinician and parent ratings, from baseline to post-treatment. In addition, reductions in parent-rated externalizing symptoms were observed. Gains were maintained at a 1-month follow-up.
C1 Univ Miami, Coral Gables, FL 33146 USA.
[Ehrenreich-May, Jill; Queen, Alexander H.; Ghilain, Christine S.; Alessandri, Michael] Univ S Florida, Tampa, FL USA.
[Storch, Eric A.; Lewin, Adam B.; Arnold, Elysse B.; Murphy, Tanya K.] Univ Arkansas, Fayetteville, AR 72701 USA.
[Rodriguez, Juventino Hernandez; Lin, C. Enjey; Fujii, Cori; Renno, Patricia; Piacentini, John; Laugeson, Elizabeth; Wood, Jeffrey J.] Univ Calif Los Angeles, Los Angeles, CA USA.
RP Ehrenreich-May, J (reprint author), Univ Miami, Dept Psychol, 5665 Ponce de Leon Blvd,Room 315, Coral Gables, FL 33146 USA.
EM j.ehrenreich@miami.edu
CR Achenbach T. M., 2001, ASEBA SCH AGE FORMS
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Weisz JR, 2012, ARCH GEN PSYCHIAT, V69, P274, DOI 10.1001/archgenpsychiatry.2011.147
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Wood JJ, 2009, J CHILD PSYCHOL PSYC, V50, P224, DOI 10.1111/j.1469-7610.2008.01948.x
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Zaider TI, 2003, PSYCHOL MED, V33, P611, DOI 10.1017/S0033291703007414
NR 68
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1088-3576
EI 1538-4829
J9 FOCUS AUTISM DEV DIS
JI Focus Autism Dev. Disabil.
PD SEP
PY 2014
VL 29
IS 3
BP 145
EP 155
DI 10.1177/1088357614533381
PG 11
WC Education, Special; Psychology, Developmental; Rehabilitation
SC Education & Educational Research; Psychology; Rehabilitation
GA AN4HA
UT WOS:000340547100002
ER
PT J
AU Bouck, EC
Savage, M
Meyer, NK
Taber-Doughty, T
Hunley, M
AF Bouck, Emily C.
Savage, Melissa
Meyer, Nancy K.
Taber-Doughty, Teresa
Hunley, Megan
TI High-Tech or Low-Tech? Comparing Self-Monitoring Systems to Increase
Task Independence for Students With Autism
SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE high school; age; functional skills; independence; autism spectrum
disorders; daily living; skills; intellectual disability
ID GENERAL-EDUCATION CLASSROOM; HIGH-SCHOOL; DISABILITIES; PERFORMANCE;
CHILDREN; ADULTS; SKILLS
AB Independence is the ultimate goal for students with disabilities, including secondary students with autism. One avenue targeted for increasing independence and decreasing prompt-dependency is through self-monitoring. In this study, investigators sought to determine whether a difference exists in levels of task independence when three students with autism complete food preparation tasks while self-monitoring using a low-tech treatment (paper/pencil) and high-tech treatment (iPad). Although both interventions decreased the need for prompting thereby increasing independence, students needed less assistance when using the iPad. Students also maintained their levels of independence in food preparation following summer vacation. Social validity interviews indicated students preferred self-monitoring with the iPad over the paper/pencil.
C1 [Bouck, Emily C.; Savage, Melissa; Meyer, Nancy K.; Taber-Doughty, Teresa; Hunley, Megan] Purdue Univ, W Lafayette, IN 47907 USA.
RP Bouck, EC (reprint author), Purdue Univ, 100 N Univ St, W Lafayette, IN 47907 USA.
EM bouck@purdue.edu
CR Agran M, 2005, EDUC TRAIN DEV DISAB, V40, P3
Bouck EC, 2012, EDUC TRAIN AUTISM DE, V47, P462
Bruhn A, 2012, BEHAV DISORDERS, V38, P3
Cihak DF, 2010, EDUC TRAIN AUTISM DE, V45, P136
Dawson G, 2000, J AUTISM DEV DISORD, V30, P415, DOI 10.1023/A:1005547422749
Ganz JB, 2005, EDUC TRAIN DEV DISAB, V40, P24
Garner N., 2003, INT J INCLUSIVE EDUC, V7, P415, DOI 10.1080/1360311032000110963
Gast D., 2010, SINGLE SUBJECT RES M, P199
Gast D. L., 2010, SINGLE SUBJECT RES M, P329
Gast D. L., 2010, SINGLE SUBJECT RES M
Gulchak D., 2008, EDUC TREAT CHILD, V31, P567
Harris KR, 2005, J SPEC EDUC, V39, P145, DOI 10.1177/00224669050390030201
Holifield C, 2010, FOCUS AUTISM DEV DIS, V25, P230, DOI 10.1177/1088357610380137
Hughes C, 2002, EDUC TRAIN MENT RET, V37, P262
Hume K, 2009, J AUTISM DEV DISORD, V39, P1329, DOI 10.1007/s10803-009-0751-2
Kennedy C, 2005, SINGLE CASE DESIGNS
Kim MC, 2011, COMPUT EDUC, V56, P403, DOI 10.1016/j.compedu.2010.08.024
Konrad M., 2010, ED TREATMENT CHILDRE, V33, P187
Lee S. H., 2007, FOCUS AUTISM OTHER D, V22, P2, DOI DOI 10.1177/10883576070220010101
Legge D. B., 2010, J BEHAV ASSESSMENT I, V1, P43
Lienemann T. O., 2006, EXCEPT CHILDREN, V76, P471
Parker D, 2011, FOCUS AUTISM DEV DIS, V26, P131, DOI 10.1177/1088357610376945
Smith LE, 2012, J AM ACAD CHILD PSY, V51, P622, DOI 10.1016/j.jaac.2012.03.001
Snell M. E., 2006, INSTRUCTION STUDENTS
Wehman P., 2006, LIFE CLASSROOM TRANS, P41
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Wehmeyer ML, 2003, EDUC TRAIN MENT RET, V38, P131
White O. R., 1980, EXCEPTIONAL TEACHING
NR 28
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1088-3576
EI 1538-4829
J9 FOCUS AUTISM DEV DIS
JI Focus Autism Dev. Disabil.
PD SEP
PY 2014
VL 29
IS 3
BP 156
EP 167
DI 10.1177/1088357614528797
PG 12
WC Education, Special; Psychology, Developmental; Rehabilitation
SC Education & Educational Research; Psychology; Rehabilitation
GA AN4HA
UT WOS:000340547100003
ER
PT J
AU Rieth, SR
Stahmer, AC
Suhrheinrich, J
Schreibman, L
Kennedy, J
Ross, B
AF Rieth, Sarah R.
Stahmer, Aubyn C.
Suhrheinrich, Jessica
Schreibman, Laura
Kennedy, Joanna
Ross, Benjamin
TI Identifying Critical Elements of Treatment: Examining the Use of Turn
Taking in Autism Intervention
SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE evidence-based intervention; naturalistic behavioral intervention; turn
taking; critical elements
AB Evidence-based treatments for autism spectrum disorders (ASD) are comprised of components that identify therapist behavior necessary to implement the treatment with integrity. Some components are shared across approaches from diverse theoretical backgrounds. One component included in several interventions that has not been researched in isolation is turn taking, or the manner in which the therapist facilitates back-and-forth interaction with the child. The current study used an alternating treatments design to examine the efficacy of four types of turn taking. Six children, ages 30 to 39 months, received behavioral treatment while therapists systematically varied the nature of the turn taking component. Children's responses were behaviorally scored to examine differences based on turn condition. Consistent patterns of behavior were found across children. Results suggest that the optimal type of turn is dependent on developmental level and target skill. Implications for treatment of ASD and future research directions are discussed.
C1 [Rieth, Sarah R.; Stahmer, Aubyn C.; Suhrheinrich, Jessica] Rady Childrens Hosp, San Diego, CA 92123 USA.
[Rieth, Sarah R.; Stahmer, Aubyn C.; Suhrheinrich, Jessica; Schreibman, Laura; Kennedy, Joanna; Ross, Benjamin] Univ Calif San Diego, San Diego, CA 92103 USA.
RP Rieth, SR (reprint author), Rady Childrens Hosp, 3020 Childrens Way,MC 5033, San Diego, CA 92123 USA.
EM sreed@casrc.org
CR ALPERT CL, 1992, J EARLY INTERVENTION, V16, P31
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Greenspan S. I., 2006, INFANT EARLY CHILDHO
Harmon R. J., 2000, J AM ACAD CHILD ADOL, V39, P1327
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Hayes S. C., 1999, SCI PRACTITIONER RES
Ingersoll B, 2011, J POSIT BEHAV INTERV, V13, P109, DOI 10.1177/1098300710384507
Ingersoll BR, 2010, J POSIT BEHAV INTERV, V12, P33, DOI 10.1177/1098300709334797
Koegel R. L., 1989, TEACH PIVOTAL BEHAV
Kratochwill T. R., 2010, SINGLE CASE DESIGN T
Lord C., 1999, AUTISM DIAGNOSTIC OB
Mahoney G., 2007, AUTISM DEV DELAYS YO
Mundy P., 2012, ED INTERVENTIONS STU, P107
National Autism Center, 2009, NAT STAND REP
National Professional Development Center on Autism Spectrum Disorders, 2011, NPDC ASD NAT STAND P
National Professional Development Center on Autism Spectrum Disorders, 2011, NAT PROF DEV CTR AUT
Odom S. L., 2010, PREVENTING SCH FAILU, V54, P275, DOI DOI 10.1080/10459881003785506
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Parker RI, 2007, J SPEC EDUC, V40, P194, DOI 10.1177/00224669070400040101
Rogers EM, 2003, DIFFUSION INNOVATION
Rogers SJ, 2010, EARLY START DENVER M
Rogers SJ, 2008, J CLIN CHILD ADOLESC, V37, P8, DOI 10.1080/15374410701817808
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WOLF M, 1964, BEHAV RES THER, V1, P305
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NR 30
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1088-3576
EI 1538-4829
J9 FOCUS AUTISM DEV DIS
JI Focus Autism Dev. Disabil.
PD SEP
PY 2014
VL 29
IS 3
BP 168
EP 179
DI 10.1177/1088357613513792
PG 12
WC Education, Special; Psychology, Developmental; Rehabilitation
SC Education & Educational Research; Psychology; Rehabilitation
GA AN4HA
UT WOS:000340547100004
ER
PT J
AU Wolfe, K
Slocum, TA
Kunnavatana, SS
AF Wolfe, Katie
Slocum, Timothy A.
Kunnavatana, S. Shanun
TI Promoting Behavioral Variability in Individuals With Autism Spectrum
Disorders: A Literature Review
SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE autism; repetitive; response diversity; response variation; variability
ID RESPONSE VARIABILITY; CHILDREN; OPERANT; REINFORCEMENT; EXTINCTION;
SCHEDULES; STUDENTS
AB Repetitive behavior is a hallmark feature of autism spectrum disorders (ASD), and can have adverse consequences related to social stigma and low rates of skill acquisition. Basic research suggests that variability, or the extent to which one response differs from previous responses, is amenable to antecedent and consequence manipulations. This article describes the concept of variability, synthesizes the findings of 14 recent studies on interventions to increase the variability of behavior in individuals with ASD, and proposes preliminary guidelines for practitioners that focus on building response repertoires, implementing contingencies to produce and maintain variability, and incorporating prompts to vary responding.
C1 [Wolfe, Katie] Univ S Carolina, Columbia, SC 29208 USA.
[Slocum, Timothy A.; Kunnavatana, S. Shanun] Utah State Univ, Logan, UT 84322 USA.
RP Wolfe, K (reprint author), Univ S Carolina, Dept Educ Studies, 820 Main St,235-B Wardlaw, Columbia, SC 29208 USA.
EM kmsnyder@mailbox.sc.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 28
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1088-3576
EI 1538-4829
J9 FOCUS AUTISM DEV DIS
JI Focus Autism Dev. Disabil.
PD SEP
PY 2014
VL 29
IS 3
BP 180
EP 190
DI 10.1177/1088357614525661
PG 11
WC Education, Special; Psychology, Developmental; Rehabilitation
SC Education & Educational Research; Psychology; Rehabilitation
GA AN4HA
UT WOS:000340547100005
ER
PT J
AU Song, C
Zhang, HP
AF Song, Chi
Zhang, Heping
TI TARV: Tree-based Analysis of Rare Variants Identifying Risk Modifying
Variants in CTNNA2 and CNTNAP2 for Alcohol Addiction
SO GENETIC EPIDEMIOLOGY
LA English
DT Article
DE mutation; classification tree; association analysis; alcoholism
ID GENOME-WIDE ASSOCIATION; FUNCTIONAL LINEAR-MODELS; CLASSIFICATION TREES;
COMMON DISEASES; AUTISM; DISORDERS; LINKAGE; TRAITS; GENES
AB Since the development of next generation sequencing (NGS) technology, researchers have been extending their efforts on genome-wide association studies (GWAS) from common variants to rare variants to find the missing inheritance. Although various statistical methods have been proposed to analyze rare variants data, they generally face difficulties for complex disease models involving multiple genes. In this paper, we propose a tree-based analysis of rare variants (TARV) that adopts a nonparametric disease model and is capable of exploring gene-gene interactions. We found that TARV outperforms the sequence kernel association test (SKAT) in most of our simulation scenarios, and by notable margins in some cases. By applying TARV to the study of addiction: genetics and environment (SAGE) data, we successfully detected gene CTNNA2 and its 43 specific variants that increase the risk of alcoholism in women, with an odds ratio (OR) of 1.94. This gene has not been detected in the SAGE data. Post hoc literature search also supports the role of CTNNA2 as a likely risk gene for alcohol addiction. In addition, we also detected a plausible protective gene CNTNAP2, whose 97 rare variants can reduce the risk of alcoholism in women, with an OR of 0.55. These findings suggest that TARV can be effective in dissecting genetic variants for complex diseases using rare variants data. (C) 2014 Wiley Periodicals, Inc.
C1 [Song, Chi; Zhang, Heping] Yale Univ, Sch Publ Hlth, Dept Biostat, New Haven, CT 06511 USA.
RP Zhang, HP (reprint author), Yale Univ, Sch Publ Hlth, Dept Biostat, 300 George St,Suite 523, New Haven, CT 06511 USA.
EM heping.zhang@yale.edu
FU National Institute on Drug Abuse [R01 DA016750]
FX This research is supported in part by grants R01 DA016750 from the
National Institute on Drug Abuse. The dataset used for the analyses
described in this manuscript was obtained from dbGaP at
http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs0
00092.v1.p1 through dbGaP accession number phs000092.v1.p.
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NR 30
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0741-0395
EI 1098-2272
J9 GENET EPIDEMIOL
JI Genet. Epidemiol.
PD SEP
PY 2014
VL 38
IS 6
BP 552
EP 559
DI 10.1002/gepi.21843
PG 8
WC Genetics & Heredity; Public, Environmental & Occupational Health
SC Genetics & Heredity; Public, Environmental & Occupational Health
GA AN4KP
UT WOS:000340556900008
PM 25041903
ER
PT J
AU Fitzpatrick, EM
Lambert, L
Whittingham, J
Leblanc, E
AF Fitzpatrick, Elizabeth M.
Lambert, Linda
Whittingham, JoAnne
Leblanc, Emma
TI Examination of characteristics and management of children with hearing
loss and autism spectrum disorders
SO INTERNATIONAL JOURNAL OF AUDIOLOGY
LA English
DT Article
DE Hearing loss; autism spectrum disorder; hearing aids; cochlear implants
ID COCHLEAR IMPLANTS; IMPAIRMENT; DIAGNOSIS; AGE; DEAFNESS; DISABILITIES;
TODDLERS; OUTCOMES; REGIONS; CANADA
AB Objective: Up to 40% of children with hearing loss present with other developmental disabilities. The purpose of this study was to document the prevalence of autism spectrum disorders (ASD) in children with permanent hearing loss, to describe the audiologic characteristics, and to examine clinical management. Design: Prospective data related to clinical characteristics of children identified with hearing loss and ASD were examined. A retrospective chart review was also conducted to explore clinical management and uptake of amplification. Study sample: The study included all children in one Canadian region identified with permanent hearing loss and followed from 2002-2010. Results: Of a total of 785 children with permanent hearing loss, 2.2% (n = 17) also received a diagnosis of ASD. The 13 boys and 4 girls presented with a range of audiologic profiles from unilateral to profound bilateral hearing loss. Four of five children with unilateral hearing loss experienced progression to bilateral loss. Amplification was recommended for all but one child and 9 of 16 children continued to use their hearing devices. Conclusions: The higher prevalence rate of ASD in this clinical population is consistent with previous reports. Our findings suggest that some children with autism can derive benefits from the use of amplification.
C1 [Fitzpatrick, Elizabeth M.] Univ Ottawa, Fac Hlth Sci, Ottawa, ON K1H 8M5, Canada.
[Fitzpatrick, Elizabeth M.; Whittingham, JoAnne] Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada.
[Lambert, Linda] Ctr Sante & Serv Sociaux Alphonse Desjardins, Levis, PQ, Canada.
[Leblanc, Emma] Northwestern Univ, Dept Audiol, Chicago, IL 60611 USA.
RP Fitzpatrick, EM (reprint author), Univ Ottawa, Fac Hlth Sci, Ottawa, ON K1H 8M5, Canada.
EM elizabeth.fitzpatrick@uottawa.ca
FU Canadian Institutes of Health New Investigator Award; Canadian Child
Health Clinician Scientist Program Award
FX This research was funded by a Canadian Institutes of Health New
Investigator Award and a Canadian Child Health Clinician Scientist
Program Award to the first author. We are grateful to the clinicians at
the Children's Hospital of Eastern Ontario for their contributions of
clinical data and for their collaboration throughout this study. We
thank Viviane Grandpierre for assistance with updating the literature.
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Berard G, 1993, HEARING EQUALS BEHAV
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NR 46
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1499-2027
EI 1708-8186
J9 INT J AUDIOL
JI Int. J. Audiol.
PD SEP
PY 2014
VL 53
IS 9
BP 577
EP 586
DI 10.3109/14992027.2014.903338
PG 10
WC Audiology & Speech-Language Pathology; Otorhinolaryngology
SC Audiology & Speech-Language Pathology; Otorhinolaryngology
GA AN3AM
UT WOS:000340457200001
PM 24832530
ER
PT J
AU Fredo, ARJ
Kavitha, G
Ramakrishnan, S
AF Fredo, A. R. Jac
Kavitha, G.
Ramakrishnan, S.
TI Segmentation and Analysis of Brain Subcortical Regions Using Regularized
Multiphase Level Set in Autistic MRImages
SO INTERNATIONAL JOURNAL OF IMAGING SYSTEMS AND TECHNOLOGY
LA English
DT Article
DE autism; subcortical regions; multiphase level set; fuzzy c-means
cluster; intelligent quotient values
ID IMAGE SEGMENTATION; ACTIVE CONTOURS; CHILDREN; MRI; VOLUMES; MODEL
AB In this work, subcortical regions of autistic magnetic resonance brain images are analyzed using multiphase level set method. The images considered in this work are obtained from autism brain image data exchange database. The subcortical regions such as corpus callosum, cerebellum, and brain stem are segmented from the cortical region using Fuzzy c-means (FCM)-based multiphase level set method. FCM with three cluster center is used as the intensity discriminator and the evolution of the level set curve is regularized by a distance function. The results show that the multiphase level set method is able to segment the desired subcortical regions. The results are validated with the ground truth images. The average similarity values are found to be 0.85. The segmented subcortical regions of autistic have reduced tissue area and are distinct from the controls (p<0.0001). Further, it is observed that the subcortical area gives comparable results with clinical intelligent quotient values and is able to discriminate the controls and autistic subjects. As the feature area extracted from brain subcortical regions are significant, this study seems to be clinically helpful in mass screening of autistic subjects. (C) 2014 Wiley Periodicals, Inc.
C1 [Fredo, A. R. Jac; Kavitha, G.] Anna Univ, Dept Elect Engn, Madras 600025, Tamil Nadu, India.
[Ramakrishnan, S.] Indian Inst Technol Madras, Dept Appl Mech, Biomed Engn Grp, Noninvas Imaging & Diagnost Lab, Madras, Tamil Nadu, India.
RP Fredo, ARJ (reprint author), Anna Univ, Dept Elect Engn, MIT Campus, Madras 600025, Tamil Nadu, India.
EM jack247029@gmail.com
FU University Grant Commission under the scheme Maulana Azad National
Fellowship for Minority students [F1-17.1/2011/MANF-CHRTAM-1826]
FX Grant sponsors: The first author Jac Fredo A. R. is receiving fellowship
from University Grant Commission under the scheme Maulana Azad National
Fellowship for Minority students (F1-17.1/2011/MANF-CHRTAM-1826) for his
research work.
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NR 31
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0899-9457
EI 1098-1098
J9 INT J IMAG SYST TECH
JI Int. J. Imaging Syst. Technol.
PD SEP
PY 2014
VL 24
IS 3
BP 256
EP 262
DI 10.1002/ima.22101
PG 7
WC Engineering, Electrical & Electronic; Optics; Imaging Science &
Photographic Technology
SC Engineering; Optics; Imaging Science & Photographic Technology
GA AN3NI
UT WOS:000340494700007
ER
PT J
AU Goddard, L
Dritschel, B
Howlin, P
AF Goddard, Lorna
Dritschel, Barbara
Howlin, Patricia
TI A Preliminary Study of Gender Differences in Autobiographical Memory in
Children with an Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autobiographical memory; Gender; Autism spectrum disorder
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; EPISODIC MEMORY;
SEX-DIFFERENCES; ADULTS; SELF; DEPRESSION; RETRIEVAL; CONSTRUCTION;
INDIVIDUALS
AB Autobiographical memory was assessed in 24 children (12 male, 12 female, aged between 8 and 16 years) with autism spectrum disorder (ASD) and a comparison group of 24 typically developing (TD) children matched for age, IQ, gender and receptive language. Results suggested that a deficit in specific memory retrieval in the ASD group was more characteristic of male participants. Females in both the TD and ASD groups generated more detailed and emotional memories than males. They also demonstrated superior verbal fluency scores; verbal fluency and autobiographical memory cueing task performance were significantly positively correlated in females. Results are discussed in light of recent research suggesting gender differences in the phenotype of ASD.
C1 [Goddard, Lorna] Univ London Goldsmiths Coll, Dept Psychol, London SE14 6NW, England.
[Dritschel, Barbara] Univ St Andrews, Dept Psychol, St Andrews KY16 9AJ, Fife, Scotland.
[Howlin, Patricia] Kings Coll London, Inst Psychiat, London SE5 8AF, England.
RP Goddard, L (reprint author), Univ London Goldsmiths Coll, Dept Psychol, London SE14 6NW, England.
EM l.goddard@gold.ac.uk
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NR 53
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2087
EP 2095
DI 10.1007/s10803-014-2109-7
PG 9
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400001
PM 24777286
ER
PT J
AU Camargo, SPH
Rispoli, M
Ganz, J
Hong, ER
Davis, H
Mason, R
AF Hoeher Camargo, Siglia Pimentel
Rispoli, Mandy
Ganz, Jennifer
Hong, Ee Rea
Davis, Heather
Mason, Rose
TI A Review of the Quality of Behaviorally-Based Intervention Research to
Improve Social Interaction Skills of Children with ASD in Inclusive
Settings
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE ASD; Social skills; Behavioral interventions; Inclusive education;
Single-case research; Quality analysis
ID AUTISM SPECTRUM DISORDERS; SINGLE-SUBJECT RESEARCH; SCRIPT-FADING
PROCEDURE; SPECIAL-EDUCATION; DEVELOPMENTAL-DISABILITIES;
YOUNG-CHILDREN; SCHOOL SETTINGS; COMMUNICATION INTERVENTIONS;
LEARNING-DISABILITIES; STUDENTS
AB Students with autism spectrum disorders (ASDs) often have difficulties in social interaction skills, which may prevent their successful inclusion in general education placements. Behaviorally-based social skills interventions have been shown to be effective in attenuating such difficulties in these environments. In light of the increasing number of children with ASD being educated in inclusive settings and requirements for the use of research-based interventions in schools, this paper (1) analyzes the quality of single-case research using behaviorally-based interventions to improve social interaction skills of children with ASD in inclusive settings and (2) evaluates whether such interventions can be considered an evidence-based practice. Characteristics and components of the interventions are summarized, and their implications for practice and future research are discussed.
C1 [Hoeher Camargo, Siglia Pimentel; Rispoli, Mandy; Ganz, Jennifer; Hong, Ee Rea; Davis, Heather; Mason, Rose] Texas A&M Univ, Dept Educ Psychol, College Stn, TX 77843 USA.
RP Camargo, SPH (reprint author), Univ Fed Pelotas, Fac Educ, Rua Alberto Rosa 154, BR-96010770 Pelotas, RS, Brazil.
EM sigliahoher@yahoo.com.br; mrispoli@tamu.edu; jeniganz@tamu.edu;
ghdeerea@neo.tamu.edu; heatherstepdavis@gmail.com;
rosemason519@gmail.com
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NR 107
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2096
EP 2116
DI 10.1007/s10803-014-2060-7
PG 21
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400002
PM 24781498
ER
PT J
AU Joshi, G
Faraone, SV
Wozniak, J
Petty, C
Fried, R
Galdo, M
Furtak, SL
McDermott, K
Epstien, C
Walker, R
Caron, A
Feinberg, L
Biederman, J
AF Joshi, Gagan
Faraone, Stephen V.
Wozniak, Janet
Petty, Carter
Fried, Ronna
Galdo, Maribel
Furtak, Stephannie L.
McDermott, Katie
Epstien, Cecily
Walker, Rosemary
Caron, Ashley
Feinberg, Leah
Biederman, Joseph
TI Examining the Clinical Correlates of Autism Spectrum Disorder in Youth
by Ascertainment Source
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Psychiatric comorbidity; Youth
ID PERVASIVE DEVELOPMENTAL DISORDERS; DEFICIT HYPERACTIVITY DISORDER;
ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; ASPERGER-SYNDROME; PSYCHIATRIC
COMORBIDITY; REFERRED POPULATION; GLOBAL ASSESSMENT; BIPOLAR DISORDER;
ANXIETY SYMPTOMS; YOUNG-ADULTS
AB To examine whether presentation of autism spectrum disorder (ASD) and associated patterns of psychiatric comorbidity and dysfunction vary by referral source. ASD youth referred to a specialized ambulatory program for ASD (N = 143) were compared to ASD youth referred to a general child psychiatry clinic (N = 217). More ASD clinic youth met criteria for a more robust form of ASD (autistic disorder); more youth referred to the psychiatry clinic met criteria for broader spectrum ASD (pervasive developmental disorder not otherwise specified). General psychiatry clinic youth with ASD suffered from a greater burden of psychopathologies and higher levels of dysfunction. The presentation of ASD in psychiatrically referred youth differs between general and ASD-specialized clinics, though both referral populations have high levels of comorbidity and dysfunction.
C1 [Joshi, Gagan; Wozniak, Janet; Petty, Carter; Fried, Ronna; Galdo, Maribel; Furtak, Stephannie L.; McDermott, Katie; Epstien, Cecily; Walker, Rosemary; Caron, Ashley; Feinberg, Leah; Biederman, Joseph] Massachusetts Gen Hosp, Clin & Res Program Pediat Psychopharmacol, Boston, MA 02114 USA.
[Joshi, Gagan; Wozniak, Janet; Fried, Ronna; Biederman, Joseph] Harvard Univ, Sch Med, Dept Psychiat, Boston, MA 02115 USA.
[Faraone, Stephen V.] SUNY Upstate Med Univ, Dept Psychiat, Syracuse, NY 13210 USA.
[Faraone, Stephen V.] SUNY Upstate Med Univ, Dept Neurosci & Physiol, Syracuse, NY 13210 USA.
RP Joshi, G (reprint author), Massachusetts Gen Hosp, Clin & Res Program Pediat Psychopharmacol, 55 Fruit St,YAW 6A, Boston, MA 02114 USA.
EM joshi.gagan@mgh.harvard.edu
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NR 54
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2117
EP 2126
DI 10.1007/s10803-014-2063-4
PG 10
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400003
PM 24566937
ER
PT J
AU Sun, X
Allison, C
Auyeung, B
Matthews, FE
Sharp, SJ
Baron-Cohen, S
Brayne, C
AF Sun, Xiang
Allison, Carrie
Auyeung, Bonnie
Matthews, Fiona E.
Sharp, Stephen J.
Baron-Cohen, Simon
Brayne, Carol
TI The Mandarin Childhood Autism Spectrum Test (CAST): Sex Differences
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Social behaviours; Communication; Sex differences; China
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS;
ASPERGER-SYNDROME; CHILDREN; QUOTIENT; PREVALENCE; ADULTS; POPULATION;
UK; PSYCHOPATHOLOGY
AB Sex differences in social and communication behaviours related to autism spectrum conditions (ASC) have been investigated mainly in Western populations. Little research has been done in Chinese populations. This study explored sex differences related to ASC characteristics by examining differences in item responses and score distributions in relation to a screening instrument, the Childhood Autism Spectrum Test (CAST), used with Chinese children. A Mandarin Chinese version of the CAST (M-CAST) was distributed to 737 children aged 6-11 years in mainstream schools in Beijing. Questionnaires from 682 (93 %) children were available for analysis. The median score for boys was higher than for girls [boys, median = 8 (IQR 6, 11); girls, median = 7 (IQR 4, 9); p < 0.001]. There were differences in the proportions of boys and girls across all three score groups (a parts per thousand currency sign11, 12-14, a parts per thousand yen15) with more boys being found in the higher score groups (p = 0.035). This finding provides evidence that boys and girls have different social and communication development profiles, consistent with previous findings in Western cultures. These results suggest that sex differences related to ASC are consistent across cultures.
C1 [Sun, Xiang; Brayne, Carol] Univ Cambridge, Sch Clin Med, Cambridge Inst Publ Hlth, Cambridge CB2 0SR, England.
[Sun, Xiang; Allison, Carrie; Auyeung, Bonnie; Baron-Cohen, Simon] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge CB2 8AH, England.
[Sun, Xiang] Chinese Univ Hong Kong, Jockey Club Sch Publ Hlth & Primary Care, Prince Wales Hosp, Shatin, Hong Kong, Peoples R China.
[Auyeung, Bonnie] Univ Edinburgh, Dept Psychol, Edinburgh EH8 9JZ, Midlothian, Scotland.
[Matthews, Fiona E.] Univ Cambridge, MRC Biostat Unit, Cambridge Inst Publ Hlth, Cambridge CB2 0SR, England.
[Sharp, Stephen J.] Univ Cambridge, MRC Epidemiol Unit, Addenbrookes Hosp, Inst Metab Sci, Cambridge CB2 0QQ, England.
RP Sun, X (reprint author), Univ Cambridge, Sch Clin Med, Cambridge Inst Publ Hlth, Forvie Site,Cambridge Biomed Campus, Cambridge CB2 0SR, England.
EM xs227@medschl.cam.ac.uk
CR Allison C., 2013, BRAYNE C
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NR 50
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2137
EP 2146
DI 10.1007/s10803-014-2088-8
PG 10
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400005
PM 24756542
ER
PT J
AU Larson, JCG
Suchy, Y
AF Larson, Jennifer C. Gidley
Suchy, Yana
TI Does Language Guide Behavior in Children with Autism?
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Self-directed speech; Motor sequence learning; Motor control
ID SCALE-ELECTRONIC VERSION; HIGH-FUNCTIONING AUTISM; TURN-TAPTAP TASK;
INNER SPEECH USE; SPECTRUM DISORDERS; WORKING-MEMORY; DYSCONTROL SCALE;
EXECUTIVE DYSFUNCTION; DIAGNOSTIC INTERVIEW; MOTOR
AB It is unknown if children with high-functioning autism (HFA) employ self-directed speech to guide motor sequencing and motor control, or if they can benefit from using self-directed speech when prompted to do so. Participants performed a three-movement sequence across three conditions: Natural Learning, Task-Congruent Verbalization (TCV), and Task-Incongruent Verbalization (TIV). TIV deleteriously impacted performance in the typically-developing group (n = 22), and not the HFA group (n = 21). TCV improved performance in both groups, but to a greater extent in the HFA group. These findings suggest that children with HFA do not initiate self-directed speech spontaneously, but can use language to guide behavior when prompted to do so.
C1 [Larson, Jennifer C. Gidley] Kennedy Krieger Inst, Dept Neuropsychol, Baltimore, MD 21231 USA.
[Larson, Jennifer C. Gidley; Suchy, Yana] Univ Utah, Dept Psychol, Salt Lake City, UT 84112 USA.
RP Larson, JCG (reprint author), Kennedy Krieger Inst, Dept Neuropsychol, 1750 E Fairmount Ave, Baltimore, MD 21231 USA.
EM jen.gidleylarson@gmail.com; yana.suchy@utah.edu
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NR 90
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2147
EP 2161
DI 10.1007/s10803-014-2089-7
PG 15
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400006
ER
PT J
AU Bottema-Beutel, K
Yoder, PJ
Hochman, JM
Watson, LR
AF Bottema-Beutel, Kristen
Yoder, Paul J.
Hochman, Julia M.
Watson, Linda R.
TI The Role of Supported Joint Engagement and Parent Utterances in Language
and Social Communication Development in Children with Autism Spectrum
Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Parent-child interaction; Social
communication; Language
ID YOUNG-CHILDREN; 2ND YEAR; ATTENTION; PREDICTORS; PLAY; RESPONSIVENESS;
BEHAVIORS; IMITATION; LIFE
AB This study examined associations between three parent-child engagement states and social communication, expressive language, and receptive language at 8 month follow-up, in 63 preschool-age children with autism spectrum disorder. We extend the literature on supported joint engagement by dividing this state into higher order (HSJE) and lower order types, with HSJE involving greater reciprocity in toy play. We also examined parents' follow-in utterances that co-occurred with each state. We found that only HSJE predicts later social communication and expressive language, while object engagement predicts receptive language. HSJE combined with follow-in utterances (HSJE+FI) predicts all three outcomes when controlling for HSJE+FI in other engagement states. When controlling for total HSJE, HSJE+FI is predictive of receptive language.
C1 [Bottema-Beutel, Kristen] Boston Coll, Lynch Sch Educ, Chestnut Hill, MA 02467 USA.
[Yoder, Paul J.; Hochman, Julia M.] Vanderbilt Univ, Dept Special Educ, Peabody Coll, Nashville, TN 37203 USA.
[Watson, Linda R.] Univ N Carolina, Div Speech & Hearing Sci, Chapel Hill, NC 27599 USA.
RP Bottema-Beutel, K (reprint author), Boston Coll, Lynch Sch Educ, 140 Commonwealth Ave, Chestnut Hill, MA 02467 USA.
EM Kristen.bottema-beutel@bc.edu
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NR 44
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2162
EP 2174
DI 10.1007/s10803-014-2092-z
PG 13
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400007
PM 24658867
ER
PT J
AU Johnson, CR
Turner, K
Stewart, PA
Schmidt, B
Shui, A
Macklin, E
Reynolds, A
James, J
Johnson, SL
Courtney, PM
Hyman, SL
AF Johnson, Cynthia R.
Turner, Kylan
Stewart, Patricia A.
Schmidt, Brianne
Shui, Amy
Macklin, Eric
Reynolds, Anne
James, Jill
Johnson, Susan L.
Courtney, Patty Manning
Hyman, Susan L.
TI Relationships Between Feeding Problems, Behavioral Characteristics and
Nutritional Quality in Children with ASD
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Feeding problems; Mealtime behaviors; Nutrition
ID AUTISM SPECTRUM DISORDERS; TYPICALLY DEVELOPING-CHILDREN; PERVASIVE
DEVELOPMENTAL DISORDERS; FOOD SELECTIVITY; YOUNG-CHILDREN; MEALTIME
BEHAVIORS; REPETITIVE BEHAVIORS; SENSORY SENSITIVITY;
ASPERGERS-DISORDER; TREATMENT OUTCOMES
AB Many children with autism spectrum disorders (ASD) have co-occurring feeding problems. However, there is limited knowledge about how these feeding habits are related to other behavioral characteristics ubiqitious in ASD. In a relatively large sample of 256 children with ASD, ages 2-11, we examined the relationships between feeding and mealtime behaviors and social, communication, and cognitive levels as well repetitive and ritualistic behaviors, sensory behaviors, and externalizing and internalizing behaviors. Finally, we examined whether feeding habits were predictive of nutritional adequacy. In this sample, we found strong associations between parent reported feeding habits and (1) repetitive and ritualistic behaviors, (2) sensory features, and (3) externalizing and internalizing behavior. There was a lack of association between feeding behaviors and the social and communication deficits of ASD and cognitive levels. Increases in the degree of problematic feeding behaviors predicted decrements in nutritional adequacy.
C1 [Johnson, Cynthia R.; Turner, Kylan] Univ Pittsburgh, Autism Ctr, Sch Med, Pittsburgh, PA 15213 USA.
[Stewart, Patricia A.; Schmidt, Brianne; Hyman, Susan L.] Univ Rochester, Dept Pediat, Sch Med, Rochester, NY 14642 USA.
[Stewart, Patricia A.] Univ Rochester, Clin & Translat Sci Inst, Sch Med, Rochester, NY 14642 USA.
[Shui, Amy; Macklin, Eric] Massachusetts Gen Hosp, MGH Biostat, Boston, MA 02114 USA.
[Reynolds, Anne; Johnson, Susan L.] Univ Colorado, Aurora, CO 80045 USA.
[James, Jill] Univ Arkansas Childrens Hosp, Little Rock, AR 72202 USA.
[Courtney, Patty Manning] Cincinnati Childrens Hosp, Cincinnati, OH 45229 USA.
RP Johnson, CR (reprint author), Univ Pittsburgh, Autism Ctr, Sch Med, 3420 Fifth Ave, Pittsburgh, PA 15213 USA.
EM Cynthia.johnson@chp.edu
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NR 79
TC 2
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2175
EP 2184
DI 10.1007/s10803-014-2095-9
PG 10
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400008
PM 24664635
ER
PT J
AU Brown-Lavoie, SM
Viecili, MA
Weiss, JA
AF Brown-Lavoie, S. M.
Viecili, M. A.
Weiss, J. A.
TI Sexual Knowledge and Victimization in Adults with Autism Spectrum
Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Sexual knowledge; Sexual victimization;
Asperger syndrome; Education
ID HIGH-FUNCTIONING AUTISM; WEAK CENTRAL COHERENCE; EXPERIENCES SURVEY;
YOUNG-ADULTS; CONDOM USE; PARENTAL PERSPECTIVE; COGNITIVE PHENOTYPE;
HEALTH KNOWLEDGE; COLLEGE-STUDENTS; BEHAVIOR
AB There is a significant gap in understanding the risk of sexual victimization in individuals with autism spectrum disorders (ASD) and the variables that contribute to risk. Age appropriate sexual interest, limited sexual knowledge and experiences, and social deficits, may place adults with ASD at increased risk. Ninety-five adults with ASD and 117 adults without ASD completed questionnaires regarding sexual knowledge sources, actual knowledge, perceived knowledge, and sexual victimization. Individuals with ASD obtained less of their sexual knowledge from social sources, more sexual knowledge from non-social sources, had less perceived and actual knowledge, and experienced more sexual victimization than controls. The increased risk of victimization by individuals with ASD was partially mediated by their actual knowledge. The link between knowledge and victimization has important clinical implications for interventions.
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RP Weiss, JA (reprint author), York Univ, Dept Psychol, 4700 Keele St, Toronto, ON M3J 1P3, Canada.
EM jonweiss@yorku.ca
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NR 58
TC 3
Z9 3
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2185
EP 2196
DI 10.1007/s10803-014-2093-y
PG 12
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400009
PM 24664634
ER
PT J
AU Koegel, RL
Kim, S
Koegel, LK
AF Koegel, Robert L.
Kim, Sunny
Koegel, Lynn Kern
TI Training Paraprofessionals to Improve Socialization in Students with ASD
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Paraprofessional; Training; Autism; Socialization; School
ID INCLUSIVE SETTINGS; SPECIAL-EDUCATION; SCHOOL SETTINGS; AUTISM;
CHILDREN; DISABILITIES; PEERS; PARAEDUCATORS; CLASSROOMS; INTERESTS
AB An important line of research relates to whether school personnel, such as paraprofessionals, who are present during unstructured social periods, such as lunch-recess, could successfully implement interventions to improve socialization between students with ASD and their typical peers in a group setting. Therefore, within the context of a multiple baseline across participants design, we assessed whether training paraprofessionals to provide social interventions would enhance social development in students with ASD in a group setting. Results showed that paraprofessionals who were not providing any social opportunities during baseline were able to meet fidelity of implementation following a brief training. Consequently, the children with ASD increased their levels of engagement and rates of initiation with typically developing peers following intervention. Implications for training paraprofessionals to implement effective social interventions for students with ASD are discussed.
C1 [Koegel, Robert L.; Kim, Sunny; Koegel, Lynn Kern] Univ Calif Santa Barbara, Grad Sch Educ, Koegel Autism Ctr, Santa Barbara, CA 93106 USA.
RP Koegel, RL (reprint author), Univ Calif Santa Barbara, Grad Sch Educ, Koegel Autism Ctr, Santa Barbara, CA 93106 USA.
EM Koegel@education.ucsb.edu
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NR 44
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2197
EP 2208
DI 10.1007/s10803-014-2094-x
PG 12
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400010
PM 24671749
ER
PT J
AU Hanaie, R
Mohri, I
Kagitani-Shimono, K
Tachibana, M
Matsuzaki, J
Watanabe, Y
Fujita, N
Taniike, M
AF Hanaie, Ryuzo
Mohri, Ikuko
Kagitani-Shimono, Kuriko
Tachibana, Masaya
Matsuzaki, Junko
Watanabe, Yoshiyuki
Fujita, Norihiko
Taniike, Masako
TI Abnormal Corpus Callosum Connectivity, Socio-communicative Deficits, and
Motor Deficits in Children with Autism Spectrum Disorder: A Diffusion
Tensor Imaging Study
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Diffusion tensor imaging; Tractography; Corpus callosum; Autism spectrum
disorder; Motor function
ID HIGH-FUNCTIONING AUTISM; LANGUAGE-ASSOCIATION CORTEX; WHITE-MATTER
INTEGRITY; DTI TRACTOGRAPHY; BRAIN VOLUME; OPTIC-NERVE; SPINAL-CORD;
MRI; PARCELLATION; IMPAIRMENT
AB In addition to social and communicative deficits, many studies have reported motor deficits in autism spectrum disorder (ASD). This study investigated the macro and microstructural properties of the corpus callosum (CC) of 18 children with ASD and 12 typically developing controls using diffusion tensor imaging tractography. We aimed to explore whether abnormalities of the CC were related to motor deficits, as well as social and communication deficits in children with ASD. The ASD group displayed abnormal macro and microstructure of the total CC and its subdivisions and its structural properties were related to socio-communicative deficits, but not to motor deficits in ASD. These findings advance our understanding of the contributions of the CC to ASD symptoms.
C1 [Hanaie, Ryuzo; Mohri, Ikuko; Kagitani-Shimono, Kuriko; Tachibana, Masaya; Taniike, Masako] Osaka Univ, Div Dev Neurosci, United Grad Sch Child Dev, Suita, Osaka 5650871, Japan.
[Mohri, Ikuko; Matsuzaki, Junko; Taniike, Masako] Osaka Univ, Mol Res Ctr Childrens Mental Dev, United Grad Sch Child Dev, Suita, Osaka 5650871, Japan.
[Mohri, Ikuko; Kagitani-Shimono, Kuriko; Tachibana, Masaya; Taniike, Masako] Osaka Univ, Grad Sch Med, Dept Pediat, Suita, Osaka 5650871, Japan.
[Watanabe, Yoshiyuki; Fujita, Norihiko] Osaka Univ, Grad Sch Med, Dept Diagnost & Intervent Radiol, Suita, Osaka 5650871, Japan.
RP Taniike, M (reprint author), Osaka Univ, Div Dev Neurosci, United Grad Sch Child Dev, 2-2 Yamadaoka, Suita, Osaka 5650871, Japan.
EM masako@kokoro.med.osaka-u.ac.jp
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NR 83
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2209
EP 2220
DI 10.1007/s10803-014-2096-8
PG 12
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400011
PM 24710811
ER
PT J
AU Ben-Itzchak, E
Watson, LR
Zachor, DA
AF Ben-Itzchak, Esther
Watson, Linda R.
Zachor, Ditza A.
TI Cognitive Ability is Associated with Different Outcome Trajectories in
Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Early intensive behavioral intervention;
Autism severity; Adaptive skills; Cognitive ability
ID INTENSIVE BEHAVIORAL INTERVENTION; YOUNG-CHILDREN; PREDICTORS; SCHOOL;
SEVERITY
AB Variability in clinical expression and in intervention outcome has been described in autism spectrum disorder (ASD). The study examined progress after 1 and 2 years of intervention and compared the impact of baseline cognitive ability on outcome trajectories in 46 children (m = 25.5 months) with ASD. The entire group showed a gradual decrease in autism severity and increase in verbal cognitive scores. Only the low cognitive scores (DQ < 70) group significantly improved in fine motor and receptive language scores. Significant gains in adaptive skills were found only for the high cognitive scores (DQ a parts per thousand yen70) group after 2 years of intervention. The entire group progressed with intervention, but only children with higher cognitive levels at baseline transferred their acquired socio-communication skills into daily functioning.
C1 [Ben-Itzchak, Esther] Ariel Univ, Dept Commun Disorders, IL-40700 Ariel, Israel.
[Ben-Itzchak, Esther] Assaf Harofeh Med Ctr, Autism Ctr, IL-70300 Zerifin, Israel.
[Watson, Linda R.] Univ N Carolina, Sch Med, Dept Allied Hlth Sci, Chapel Hill, NC USA.
[Zachor, Ditza A.] Assaf Harofeh Med Ctr, Dept Pediat, Autism Ctr, IL-70300 Zerifin, Israel.
[Zachor, Ditza A.] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel.
RP Zachor, DA (reprint author), Assaf Harofeh Med Ctr, Dept Pediat, Autism Ctr, IL-70300 Zerifin, Israel.
EM dzachor@bezeqint.net
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Ben Itzchak E, 2011, RES AUTISM SPECT DIS, V5, P345, DOI 10.1016/j.rasd.2010.04.018
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NR 40
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2221
EP 2229
DI 10.1007/s10803-014-2091-0
PG 9
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400012
PM 24710810
ER
PT J
AU Chabani, E
Hommel, B
AF Chabani, Ellahe
Hommel, Bernhard
TI Visuospatial Processing in Children with Autism: No Evidence for
(Training-Resistant) Abnormalities
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Visual spatial; Visualization; School based intervention; Response to
intervention; Computer based instruction
ID COMPUTER-ASSISTED-INSTRUCTION; HIGH-FUNCTIONING AUTISM; EARLY BEHAVIORAL
INTERVENTION; SUPERIOR VISUAL-SEARCH; WEAK CENTRAL COHERENCE; SPECTRUM
DISORDERS; ENHANCED DISCRIMINATION; ASPERGERS-DISORDER; LITERACY SKILLS;
FORM SIMILARITY
AB Individuals with autism spectrum disorders (ASDs) have been assumed to show evidence of abnormal visuospatial processing, which has been attributed to a failure to integrate local features into coherent global Gestalts and/or to a bias towards local processing. As the available data are based on baseline performance only, which does not provide insight into cognitive/neural plasticity and actual cognitive potential, we investigated how training-resistant possible visuospatial processing differences between children with and without ASD are. In particular, we studied the effect of computerized versus face-to-face visuospatial training in a group of normally intelligent children with ASD and typically developing children as control. Findings show that (a) children with and without ASD do not differ much in visuospatial processing (as assessed by a tangram-like task) and the few differences we observed were all eliminated by training; (b) training can improve visuospatial processing (equally) in both children with ASD and normally developing children; and (c) computer-based and face-to-face training was equally effective.
C1 [Chabani, Ellahe; Hommel, Bernhard] Leiden Univ, Inst Psychol, Leiden, Netherlands.
[Hommel, Bernhard] Leiden Univ, Cognit Psychol Unit, NL-2333 AK Leiden, Netherlands.
RP Chabani, E (reprint author), Leiden Univ, Inst Psychol, Leiden, Netherlands.
EM echabani@gmail.com; hommel@fsw.leidenuniv.nl
RI Hommel, Bernhard /F-8173-2010
OI Hommel, Bernhard /0000-0003-4731-5125
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NR 98
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2230
EP 2243
DI 10.1007/s10803-014-2107-9
PG 14
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400013
PM 24696376
ER
PT J
AU Laugeson, EA
Ellingsen, R
Sanderson, J
Tucci, L
Bates, S
AF Laugeson, Elizabeth A.
Ellingsen, Ruth
Sanderson, Jennifer
Tucci, Lara
Bates, Shannon
TI The ABC's of Teaching Social Skills to Adolescents with Autism Spectrum
Disorder in the Classroom: The UCLA PEERS (R) Program
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Social skills; Autism spectrum disorder; PEERS; Friendship; Adolescents;
School
ID RANDOMIZED CONTROLLED-TRIAL; HIGH-FUNCTIONING AUTISM; INTERVENTION
RESEARCH; SPECIAL-EDUCATION; CHILDREN; SCHOOL; STUDENTS; METAANALYSIS;
FRIENDSHIPS; 1ST-GRADE
AB Social skills training is a common treatment method for adolescents with autism spectrum disorder (ASD), yet very few evidence-based interventions exist to improve social skills for high-functioning adolescents on the spectrum, and even fewer studies have examined the effectiveness of teaching social skills in the classroom. This study examines change in social functioning for adolescents with high-functioning ASD following the implementation of a school-based, teacher-facilitated social skills intervention known as Program for the Education and Enrichment of Relational Skills (PEERS (A (R)) ). Seventy-three middle school students with ASD along with their parents and teachers participated in the study. Participants were assigned to the PEERS (A (R)) treatment condition or an alternative social skills curriculum. Instruction was provided daily by classroom teachers and teacher aides for 14-weeks. Results reveal that in comparison to an active treatment control group, participants in the PEERS (A (R)) treatment group significantly improved in social functioning in the areas of teacher-reported social responsiveness, social communication, social motivation, social awareness, and decreased autistic mannerisms, with a trend toward improved social cognition on the Social Responsiveness Scale. Adolescent self-reports indicate significant improvement in social skills knowledge and frequency of hosted and invited get-togethers with friends, and parent-reports suggest a decrease in teen social anxiety on the Social Anxiety Scale at a trend level. This research represents one of the few teacher-facilitated treatment intervention studies demonstrating effectiveness in improving the social skills of adolescents with ASD in the classroom: arguably the most natural social setting of all.
C1 [Laugeson, Elizabeth A.; Ellingsen, Ruth; Tucci, Lara; Bates, Shannon] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90024 USA.
[Laugeson, Elizabeth A.; Tucci, Lara] UCLA Autism Res Alliance, Help Grp, Sherman Oaks, CA 91401 USA.
[Ellingsen, Ruth] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90095 USA.
[Sanderson, Jennifer] Florida Atlantic Univ, Ctr Autism & Related Disabil, Boca Raton, FL 33431 USA.
RP Laugeson, EA (reprint author), Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, 760 Westwood Plaza,Ste 48-243B, Los Angeles, CA 90024 USA.
EM elaugeson@mednet.ucla.edu
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NR 52
TC 2
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2244
EP 2256
DI 10.1007/s10803-014-2108-8
PG 13
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400014
PM 24715256
ER
PT J
AU Wood, JJ
Fujii, C
Renno, P
Van Dyke, M
AF Wood, Jeffrey J.
Fujii, Cori
Renno, Patricia
Van Dyke, Marilyn
TI Impact of Cognitive Behavioral Therapy on Observed Autism Symptom
Severity During School Recess: A Preliminary Randomized, Controlled
Trial
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Cognitive behavioral therapy; Autism spectrum disorders; School-aged
children; School observations
ID HIGH-FUNCTIONING AUTISM; TREATING ANXIETY DISORDERS; LONG-TERM-MEMORY;
SPECTRUM DISORDERS; ASPERGER-SYNDROME; SOCIAL-SKILLS; CLINICAL-TRIAL;
CHILDREN; INTERVENTION; SERVICES
AB This study compared cognitive behavioral therapy (CBT) and treatment-as-usual (TAU) in terms of effects on observed social communication-related autism symptom severity during unstructured play time at school for children with autism spectrum disorders (ASD). Thirteen children with ASD (7-11 years old) were randomly assigned to 32 sessions of CBT or community-based psychosocial treatment (TAU) for 16 weeks. The CBT program is based on the memory retrieval competition model and emphasizes the development of perspective-taking through guided behavioral experimentation supplemented with reflective Socratic discussion and supported by parent training and school consultation to promote generalization of social communication and emotion regulation skills. Trained observers blind to treatment condition observed each child during recess on two separate days at baseline and again at posttreatment, using a structured behavioral observation system that generates frequency scores for observed social communication-related autism symptoms. CBT outperformed TAU at posttreatment on the frequency of self-isolation, the proportion of time spent with peers, the frequency of positive or appropriate interaction with peers, and the frequency of positive or appropriate peer responses to the target child (d effect size range 1.34-1.62). On average, children in CBT were engaged in positive or appropriate social interaction with peers in 68.6 % of observed intervals at posttreatment, compared to 25 % of intervals for children in TAU. Further investigation of this intervention modality with larger samples and follow-up assessments is warranted.
C1 [Wood, Jeffrey J.; Fujii, Cori; Renno, Patricia; Van Dyke, Marilyn] Univ Calif Los Angeles, Dept Educ, Los Angeles, CA 90095 USA.
[Wood, Jeffrey J.] Univ Calif Los Angeles, Dept Psychiat, Los Angeles, CA 90095 USA.
RP Wood, JJ (reprint author), Univ Calif Los Angeles, Dept Educ, Moore Hall,Box 951521, Los Angeles, CA 90095 USA.
EM jwood@gseis.ucla.edu
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Wood JJ, 2009, J AUTISM DEV DISORD, V39, P1608, DOI 10.1007/s10803-009-0791-7
NR 54
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2264
EP 2276
DI 10.1007/s10803-014-2097-7
PG 13
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400016
PM 24671750
ER
PT J
AU Pearson, A
Marsh, L
Hamilton, A
Ropar, D
AF Pearson, Amy
Marsh, Lauren
Hamilton, Antonia
Ropar, Danielle
TI Spatial Transformations of Bodies and Objects in Adults with Autism
Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Spatial transformations; Bodies; Objects; Mental rotation; Egocentric;
Autism
ID VISUAL PERSPECTIVE-TAKING; MENTAL ROTATION; BODY; CHILDREN; PERCEPTION;
FMRI; SELF; MIND
AB Previous research into autism spectrum disorder (ASD) has shown people with autism to be impaired at visual perspective taking. However it is still unclear to what extent the spatial mechanisms underlying this ability contribute to these difficulties. In the current experiment we examine spatial transformations in adults with ASD and typical adults. Participants performed egocentric transformations and mental rotation of bodies and cars. Results indicated that participants with ASD had general perceptual differences impacting on response times across tasks. However, they also showed more specific differences in the egocentric task suggesting particular difficulty with using the self as a reference frame. These findings suggest that impaired perspective taking could be grounded in difficulty with the spatial transformation used to imagine the self in someone else's place.
C1 [Pearson, Amy; Marsh, Lauren; Hamilton, Antonia; Ropar, Danielle] Univ Nottingham, Sch Psychol, Nottingham NG7 2RD, England.
RP Pearson, A (reprint author), Univ Durham, Dept Psychol, Sci Labs, South Rd, Durham DH1 3LE, England.
EM amy.pearson@durham.ac.uk
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NR 46
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2277
EP 2289
DI 10.1007/s10803-014-2098-6
PG 13
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400017
PM 24658868
ER
PT J
AU Morgan, L
Leatzow, A
Clark, S
Siller, M
AF Morgan, Lindee
Leatzow, Allison
Clark, Sarah
Siller, Michael
TI Interview Skills for Adults with Autism Spectrum Disorder: A Pilot
Randomized Controlled Trial
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE ASD; Autism; Adults; Randomized controlled trial; Social skills;
Intervention
ID ADAPTIVE-BEHAVIOR SCALES; HIGH-FUNCTIONING AUTISM; QUALITY-OF-LIFE;
SOCIAL-SKILLS; YOUNG-ADULTS; ASPERGERS SYNDROME; EMPLOYMENT; VINELAND;
INDIVIDUALS; ADOLESCENTS
AB The purpose of this pilot study was to evaluate the efficacy of the interview skills curriculum (ISC), a manualized 12-week group-delivered intervention for young adults with autism spectrum disorder (ASD). This intervention aims to increase social-pragmatic skills essential to a successful job interview. Twenty-eight adults (18-36 years) were randomly assigned to one of two groups: ISC or waitlist control. Results revealed that the experimental group showed larger gains in social-pragmatic skills observed during a mock job interview than the control group. Treatment effects on distal outcomes, including social adaptive behaviors and depressive symptoms were not significant, although the respective effect sizes were medium/large. Results indicate that a brief, low-intensity treatment can improve the job-interview performance of young adults with ASD.
C1 [Morgan, Lindee; Leatzow, Allison; Clark, Sarah] Florida State Univ, Autism Inst, Tallahassee, FL 32301 USA.
[Siller, Michael] CUNY Hunter Coll, New York, NY 10065 USA.
RP Morgan, L (reprint author), Florida State Univ, Autism Inst, 1940 N Monroe,Suite 72, Tallahassee, FL 32301 USA.
EM lindee.morgan@med.fsu.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Barnard J, 2001, IGNORED INELIGIBLE R
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NR 54
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2290
EP 2300
DI 10.1007/s10803-014-2100-3
PG 11
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400018
PM 24682707
ER
PT J
AU Nah, YH
Young, RL
Brewer, N
AF Nah, Yong-Hwee
Young, Robyn L.
Brewer, Neil
TI Using the Autism Detection in Early Childhood (ADEC) and Childhood
Autism Rating Scales (CARS) to Predict Long Term Outcomes in Children
with Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Predictive validity; ADEC; CARS; Long term
outcomes
ID DIAGNOSTIC OBSERVATION SCHEDULE; BEHAVIOR CHECKLIST; VALIDITY; STAT; AGE
AB This study evaluated the predictive validity of the Autism Detection in Early Childhood (ADEC; Young, Autism detection in early childhood: ADEC. Australian Council of Educational Research, Camberwell, VIC 2007) and a well-established screening tool, the Childhood Autism Rating Scale (CARS; Schopler et al. The childhood autism rating scale (CARS). Western Psychological Services, Los Angeles 1988), for long term outcomes of children with ASD engaged in an early intervention program. Participants were 55 children (44 male, 11 female) aged 19-42 months (M = 33.5, SD = 5.6) at initial assessment who were followed up 2 and 6 years after their initial assessment. The ADEC and the CARS performed similarly when predicting long term outcomes such as clinical diagnostic outcome and overall adaptive functioning level. However, only the ADEC score was significantly correlated with ASD symptom severity at the 6-year follow up. Although these findings need to be replicated with additional and larger samples, this study extends our understanding of the psychometric properties of both the ADEC and the CARS.
C1 [Nah, Yong-Hwee; Young, Robyn L.; Brewer, Neil] Flinders Univ S Australia, Sch Psychol, Adelaide, SA 5001, Australia.
RP Nah, YH (reprint author), Flinders Univ S Australia, Sch Psychol, POB 2100, Adelaide, SA 5001, Australia.
EM yonghwee.nah@flinders.edu.au
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American Psychiatric Association, 2013, DIAGN STAT MAN MENT
American Psychiatric Association, 2000, DSM4TR AM PSYCH ASS
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NR 41
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2301
EP 2310
DI 10.1007/s10803-014-2102-1
PG 10
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400019
PM 24658894
ER
PT J
AU Crais, ER
McComish, CS
Humphreys, BP
Watson, LR
Baranek, GT
Reznick, JS
Christian, RB
Earls, M
AF Crais, Elizabeth R.
McComish, Cara S.
Humphreys, Betsy P.
Watson, Linda R.
Baranek, Grace T.
Reznick, J. Steven
Christian, Rob B.
Earls, Marian
TI Pediatric Healthcare Professionals' Views on Autism Spectrum Disorder
Screening at 12-18 Months
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism Spectrum Disorder (ASD); Screening; Infants; Pediatric healthcare
professionals
ID FOLLOW-UP; MODIFIED CHECKLIST; EARLY-DIAGNOSIS; YOUNG-CHILDREN; AGE;
IDENTIFICATION; TODDLERS; INTERVENTIONS; SURVEILLANCE; INFANTS
AB This study explored North Carolina pediatric healthcare professional's (PHP) perceptions of screening 12-18 month old infants for Autism Spectrum Disorder (ASD). Eight focus groups (66 PHPs) were conducted across practice settings. The purpose was to explore PHP's perspectives to: inform development of ASD screening tools and ultimately impact their use in PHP settings. PHPs reported concerns, barriers, and the need for research to support early ASD screening. Additionally, they expressed the need for: (a) clear "red flags" of ASD for 12-18 month olds; (b) socioculturally sensitive and effective screening tools; (c) effective early interventions; (d) systems to handle potential increases in referrals; and (e) continuing education. PHPs also demonstrated preferences about screening tool characteristics and processes for enhancing screening efforts.
C1 [Crais, Elizabeth R.; McComish, Cara S.; Watson, Linda R.] Univ N Carolina, Div Speech & Hearing Sci, Chapel Hill, NC 27599 USA.
[Humphreys, Betsy P.] Univ New Hampshires Inst Disabil, Durham, NH USA.
[Baranek, Grace T.] Univ N Carolina, Div Occupat Sci & Occupat Therapy, Chapel Hill, NC 27599 USA.
[Reznick, J. Steven] Univ N Carolina, Chapel Hill, NC 27599 USA.
[Christian, Rob B.] Univ N Carolina, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA.
[Earls, Marian] Triad Adult & Pediat Med, Highpoint, NC USA.
RP Crais, ER (reprint author), Univ N Carolina, Div Speech & Hearing Sci, CB 7190,3126 Bondurant Hall, Chapel Hill, NC 27599 USA.
EM bcrais@med.unc.edu; gbaranek@med.unc.edu
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Centers for Disease Control and Prevention, 2012, MMWR, V61
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Zwaigenbaum L, 2005, INT J DEV NEUROSCI, V23, P143, DOI 10.1016/j.ijdevneu.2004.05.001
NR 64
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2311
EP 2328
DI 10.1007/s10803-014-2101-2
PG 18
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400020
PM 24700359
ER
PT J
AU Kassardjian, A
Leaf, JB
Ravid, D
Leaf, JA
Alcalay, A
Dale, S
Tsuji, K
Taubman, M
Leaf, R
McEachin, J
Oppenheim-Leaf, ML
AF Kassardjian, Alyne
Leaf, Justin B.
Ravid, Daniel
Leaf, Jeremy A.
Alcalay, Aditt
Dale, Stephanie
Tsuji, Kathleen
Taubman, Mitchell
Leaf, Ronald
McEachin, John
Oppenheim-Leaf, Misty L.
TI Comparing the Teaching Interaction Procedure to Social Stories: A
Replication Study
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Behavioral skills training; Social skills; Social skills groups;
Social stories; Teaching interaction procedure
ID ASPERGER-SYNDROME; AUTISM; CHILDREN; SKILLS; COMMUNICATION; DISORDER;
INCREASE; BEHAVIOR
AB This study compared the teaching interaction procedure to social stories implemented in a group setting to teach social skills to three children diagnosed with autism spectrum disorder. The researchers taught each participant one social skill with the teaching interaction procedure, one social skill with the social story procedure, and one social skill was assigned to a no intervention condition. The teaching interaction procedure consisted of didactic questions, teacher demonstration, and role-play; the social story procedure consisted of reading a book and answering comprehension questions. The researchers measured participants' performances during probes, responses to comprehension questions, and responding during role-plays. The results indicated that the teaching interaction procedure was more efficacious than the social story procedure across all three participants.
C1 [Kassardjian, Alyne; Leaf, Justin B.; Ravid, Daniel; Leaf, Jeremy A.; Alcalay, Aditt; Dale, Stephanie; Tsuji, Kathleen; Taubman, Mitchell; Leaf, Ronald; McEachin, John; Oppenheim-Leaf, Misty L.] Autism Partnership Fdn, Seal Beach, CA 90740 USA.
RP Leaf, JB (reprint author), Autism Partnership Fdn, 200 Marina Dr, Seal Beach, CA 90740 USA.
EM jblautpar@aol.com
CR Adams L., 2004, FOCUS AUTISM OTHER D, V19, P87, DOI DOI 10.1177/10883576040190020301
[Anonymous], 2009, NAT STAND PROJ ADDR
Ayllon T., 1968, TOKEN EC MOTIVATIONA
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NR 31
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2329
EP 2340
DI 10.1007/s10803-014-2103-0
PG 12
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400021
PM 24682708
ER
PT J
AU Kimhi, Y
Shoam-Kugelmas, D
Ben-Artzi, GA
Ben-Moshe, I
Bauminger-Zviely, N
AF Kimhi, Yael
Shoam-Kugelmas, Dana
Ben-Artzi, Galit Agam
Ben-Moshe, Inbal
Bauminger-Zviely, Nirit
TI Theory of Mind and Executive Function in Preschoolers with Typical
Development Versus Intellectually Able Preschoolers with Autism Spectrum
Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE ASD; Theory of mind; Executive functions; Preschool
ID FALSE BELIEF; INHIBITORY CONTROL; INDIVIDUAL-DIFFERENCES; FUNCTION
DEFICITS; YOUNG-CHILDREN; DYSFUNCTION; LANGUAGE; ABILITY; DESIRES;
IMPAIRMENTS
AB Children with autism spectrum disorder (ASD) have difficulties in theory of mind (ToM) and executive function (EF), which may be linked because one domain (EF) affects the other (ToM). Group differences (ASD vs. typical development) were examined in both cognitive domains, as well as EF's associations and regressions with ToM. Participants included 29 intellectually able preschoolers with ASD and 30 typical preschoolers, aged 3-6 years. EF tasks included planning and cognitive shifting measures. ToM tasks included predicting and explaining affective and location false-belief tasks. The novelty of this study lies in its in-depth examination of ToM explanation abilities in ASD alongside the role of verbal abilities (VIQ). Significant group differences emerged on most EF and ToM measures, in favor of typically developing children. Overall in the study group, EF-planning skills, EF-cognitive shifting and VIQ significantly contributed to the explained variance of ToM measures. Implications are discussed regarding the social-cognitive deficit in ASD.
C1 [Kimhi, Yael; Shoam-Kugelmas, Dana; Ben-Artzi, Galit Agam; Ben-Moshe, Inbal; Bauminger-Zviely, Nirit] Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel.
[Kimhi, Yael] Levinsky Coll Educ, Tel Aviv, Israel.
RP Bauminger-Zviely, N (reprint author), Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel.
EM nirit.bauminger@biu.ac.il
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 65
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2341
EP 2354
DI 10.1007/s10803-014-2104-z
PG 14
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400022
PM 24696374
ER
PT J
AU Bowler, DM
Gaigg, SB
Gardiner, JM
AF Bowler, Dermot M.
Gaigg, Sebastian B.
Gardiner, John M.
TI Binding of Multiple Features in Memory by High-Functioning Adults with
Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Memory; Relational binding
ID EPISODIC FUTURE THINKING; ASPERGERS-SYNDROME; RECALL; RECOGNITION;
DEFICITS; CHILDREN; CONTEXT; BRAIN
AB Diminished episodic memory and diminished use of semantic information to aid recall by individuals with autism spectrum disorder (ASD) are both thought to result from diminished relational binding of elements of complex stimuli. To test this hypothesis, we asked high-functioning adults with ASD and typical comparison participants to study grids in which some cells contained drawings of objects in non-canonical colours. Participants were told at study which features (colour, item, location) would be tested in a later memory test. In a second experiment, participants studied similar grids and were told that they would be tested on object-location or object-colour combinations. Recognition of combinations was significantly diminished in ASD, which survived covarying performance on the Color Trails Test (D'Elia et al. Color trails test. Professional manual. Psychological Assessment Resources, Lutz, 1996), a test of executive difficulties. The findings raise the possibility that medial temporal as well as frontal lobe processes are dysfunctional in ASD.
C1 [Bowler, Dermot M.; Gaigg, Sebastian B.; Gardiner, John M.] City Univ London, Dept Psychol, Autism Res Grp, London EC1V 0HB, England.
RP Bowler, DM (reprint author), City Univ London, Dept Psychol, Autism Res Grp, Northampton Sq, London EC1V 0HB, England.
EM d.m.bowler@city.ac.uk
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
BAUMAN M, 1985, NEUROLOGY, V35, P866
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NR 35
TC 3
Z9 3
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2355
EP 2362
DI 10.1007/s10803-014-2105-y
PG 8
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400023
PM 24696375
ER
PT J
AU Fink, E
de Rosnay, M
Wierda, M
Koot, HM
Begeer, S
AF Fink, Elian
de Rosnay, Marc
Wierda, Marlies
Koot, Hans M.
Begeer, Sander
TI Brief Report: Accuracy and Response Time for the Recognition of Facial
Emotions in a Large Sample of Children with Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Emotion recognition; Emotion processing;
Social communication
ID INDIVIDUALS; ADOLESCENTS; DEFICITS
AB The empirical literature has presented inconsistent evidence for deficits in the recognition of basic emotion expressions in children with autism spectrum disorders (ASD), which may be due to the focus on research with relatively small sample sizes. Additionally, it is proposed that although children with ASD may correctly identify emotion expression they rely on more deliberate, more time-consuming strategies in order to accurately recognize emotion expressions when compared to typically developing children. In the current study, we examine both emotion recognition accuracy and response time in a large sample of children, and explore the moderating influence of verbal ability on these findings. The sample consisted of 86 children with ASD (M (age) = 10.65) and 114 typically developing children (M (age) = 10.32) between 7 and 13 years of age. All children completed a pre-test (emotion word-word matching), and test phase consisting of basic emotion recognition, whereby they were required to match a target emotion expression to the correct emotion word; accuracy and response time were recorded. Verbal IQ was controlled for in the analyses. We found no evidence of a systematic deficit in emotion recognition accuracy or response time for children with ASD, controlling for verbal ability. However, when controlling for children's accuracy in word-word matching, children with ASD had significantly lower emotion recognition accuracy when compared to typically developing children. The findings suggest that the social impairments observed in children with ASD are not the result of marked deficits in basic emotion recognition accuracy or longer response times. However, children with ASD may be relying on other perceptual skills (such as advanced word-word matching) to complete emotion recognition tasks at a similar level as typically developing children.
C1 [Fink, Elian; de Rosnay, Marc; Begeer, Sander] Univ Sydney, Sch Psychol, Sydney, NSW 2006, Australia.
[Wierda, Marlies; Koot, Hans M.; Begeer, Sander] Vrije Univ Amsterdam, Amsterdam, Netherlands.
RP Begeer, S (reprint author), Vrije Univ Amsterdam, Amsterdam, Netherlands.
EM s.begeer@vu.nl
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Bal E, 2010, J AUTISM DEV DISORD, V40, P358, DOI 10.1007/s10803-009-0884-3
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Tracy JL, 2011, J AUTISM DEV DISORD, V41, P102, DOI 10.1007/s10803-010-1030-y
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NR 29
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2363
EP 2368
DI 10.1007/s10803-014-2084-z
PG 6
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400024
PM 24634064
ER
PT J
AU Albrecht, MA
Stuart, GW
Falkmer, M
Ordqvist, A
Leung, D
Foster, JK
Falkmer, T
AF Albrecht, Matthew A.
Stuart, Geoffrey W.
Falkmer, Marita
Ordqvist, Anna
Leung, Denise
Foster, Jonathan K.
Falkmer, Torbjorn
TI Brief Report: Visual Acuity in Children with Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Asperger syndrome; Case control study; ETDRS; High functioning autism;
Perception; Vision
ID COGNITIVE-STYLE; PERCEPTION; VISION
AB Recently, there has been heightened interest in suggestions of enhanced visual acuity in autism spectrum disorders (ASD) which was sparked by evidence that was later accepted to be methodologically flawed. However, a recent study that claimed children with ASD have enhanced visual acuity (Brosnan et al. in J Autism Dev Disord 42:2491-2497, 2012) repeated a critical methodological flaw by using an inappropriate viewing distance for a computerised acuity test, placing the findings in doubt. We examined visual acuity in 31 children with ASD and 33 controls using the 2 m 2000 Series Revised Early Treatment Diabetic Retinopathy Study chart placed at twice the conventional distance to better evaluate possible enhanced acuity. Children with ASD did not demonstrate superior acuity. The current findings strengthen the argument that reports of enhanced acuity in ASD are due to methodological flaws and challenges the reported association between visual acuity and systemising type behaviours.
C1 [Albrecht, Matthew A.; Foster, Jonathan K.] Curtin Univ, Sch Psychol & Speech Pathol, Curtin Hlth Innovat Res Inst, Perth, WA 6845, Australia.
[Stuart, Geoffrey W.] La Trobe Univ, Sch Psychol Sci, Olga Tennison Autism Res Ctr, Melbourne, Vic, Australia.
[Falkmer, Marita; Leung, Denise; Falkmer, Torbjorn] Curtin Univ, Fac Hlth Sci, Sch Occupat Therapy & Social Work, Curtin Hlth Innovat Res Inst, Perth, WA 6845, Australia.
[Falkmer, Marita] Jonkoping Univ, Inst Disabil Res, Sch Educ & Commun, CHILD Programme, Jonkoping, Sweden.
[Ordqvist, Anna; Falkmer, Torbjorn] Linkoping Univ, Fac Hlth Sci, Dept Med & Hlth Sci IMH, Linkoping, Sweden.
[Ordqvist, Anna; Falkmer, Torbjorn] Cty Council, UHL, Pain & Rehabil Ctr, Linkoping, Sweden.
[Foster, Jonathan K.] Hlth Dept WA, Neurosci Unit, Perth, WA, Australia.
[Falkmer, Torbjorn] La Trobe Univ, Sch Occupat Therapy, Melbourne, Vic, Australia.
RP Falkmer, T (reprint author), Curtin Univ, Fac Hlth Sci, Sch Occupat Therapy & Social Work, Curtin Hlth Innovat Res Inst, GPO Box U1987, Perth, WA 6845, Australia.
EM T.Falkmer@curtin.edu.au
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NR 29
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2369
EP 2374
DI 10.1007/s10803-014-2086-x
PG 6
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400025
PM 24639028
ER
PT J
AU Taylor, CM
Vehorn, A
Noble, H
Weitlauf, AS
Warren, ZE
AF Taylor, Cora M.
Vehorn, Alison
Noble, Hylan
Weitlauf, Amy S.
Warren, Zachary E.
TI Brief Report: Can Metrics of Reporting Bias Enhance Early Autism
Screening Measures?
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Screening; Early identification; Internal metrics
ID SPECTRUM DISORDERS; MODIFIED CHECKLIST; TODDLERS; CHILDREN; SCALE
AB The goal of the current study was to develop and pilot the utility of two simple internal response bias metrics, over-reporting and under-reporting, in terms of additive clinical value within common screening practices for early detection of autism spectrum disorder risk. Participants were caregivers and children under 36 months of age (n = 145) participating in first-time diagnostic appointments across our clinical research center due to developmental concerns. Caregivers were asked to complete the Modified Checklist for Autism in Toddlers (MCHAT) as well as a questionnaire embedding six response bias indicator questions. These questions were items that in previous clinical studies had been endorsed by an overwhelming majority of parents within clinically identified populations. Results indicated that removal of self-reports indicative of potential response bias dramatically reduced both false positives and false negatives on the MCHAT within this sample. This suggests that future work developing internal metrics of response bias may be promising in addressing limits of current screening measures and practices.
C1 [Taylor, Cora M.; Vehorn, Alison; Noble, Hylan; Weitlauf, Amy S.; Warren, Zachary E.] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Nashville, TN 37235 USA.
[Weitlauf, Amy S.; Warren, Zachary E.] Vanderbilt Univ, Dept Pediat, Nashville, TN USA.
[Warren, Zachary E.] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37235 USA.
RP Taylor, CM (reprint author), Geisinger Hlth Syst, Autism & Dev Med Inst, 120 Hamm Dr,Suite 2A, Lewisburg, PA 17837 USA.
EM cmtaylor1@geisinger.edu
CR Barton ML, 2012, J AUTISM DEV DISORD, V42, P1165, DOI 10.1007/s10803-011-1343-5
Butcher J. N., 2001, MINNESOTA MULTIPHASI
Chlebowski C, 2013, PEDIATRICS, V131, pE1121, DOI 10.1542/peds.2012-1525
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Dawson G, 2010, PEDIATRICS, V125, pE17, DOI 10.1542/peds.2009-0958
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Robins D., 1999, MODIFIED CHECKLIST A
Swanson AR, 2014, AUTISM, V18, P555, DOI 10.1177/1362361313481507
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Warren Z, 2011, PEDIATRICS, V127, pE1303, DOI 10.1542/peds.2011-0426
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Wetherby AM, 2008, AUTISM, V12, P487, DOI 10.1177/1362361308094501
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NR 18
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2375
EP 2380
DI 10.1007/s10803-014-2099-5
PG 6
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400026
PM 24682706
ER
PT J
AU Oien, R
AF Oien, Roald
TI Lois Jean Brady: Apps for Autism: An Essential Guide to Over 200
Effective Apps for Improving Communication, Behavior, Social Skills, and
More!
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Book Review
C1 [Oien, Roald] Yale Child Study Ctr, New Haven, CT 06405 USA.
RP Oien, R (reprint author), Yale Child Study Ctr, 230 South Frontage Rd, New Haven, CT 06405 USA.
EM roald.oien@yale.edu
CR OIEN R, 2008, LJ BRADY APPS AUTISM
NR 1
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2381
EP 2382
DI 10.1007/s10803-014-2134-6
PG 2
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400027
ER
PT J
AU Williamson, KE
Jakobson, LS
AF Williamson, Kathryn E.
Jakobson, Lorna S.
TI Social perception in children born at very low birthweight and its
relationship with social/behavioral outcomes
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Prematurity; low birthweight; autism spectrum disorder; social
perception; social cognition
ID AUTISM SPECTRUM DISORDER; EX-PRETERM INFANTS; BIOLOGICAL MOTION;
BEHAVIORAL OUTCOMES; ADOLESCENTS BORN; METAANALYSIS; POPULATION;
PREVALENCE; COGNITION; SKILLS
AB Background: Research has shown that children born very prematurely are at substantially elevated risk for social and behavioral difficulties similar to those seen in full-term children with autism spectrum disorders (ASDs). Methods: To gain insight into core deficits that may underlie these difficulties, in this study, we assessed the social perceptual skills of 8-to 11-year-old children born at very low birthweight (VLBW) (< 1,500 g) and age-matched, full-term controls, using the Child and Adolescent Social Perception Measure. We also assessed social and behavioral outcomes with two parent-report measures used in ASD screening. Results: Children in the preterm group had normal range estimated verbal IQ. However, we found that they were impaired in their ability to use nonverbal cues from moving faces and bodies, and situational cues, to correctly identify the emotions of characters depicted in videotaped social interactions. Their performance on this task was related to the number of 'autistic-like' traits they displayed. Conclusions: This research highlights links between social perceptual deficits and poor social and behavioral outcomes in children born very prematurely. The results also suggest that even those who have escaped major intellectual/language problems are at risk for social and behavioral problems that can be of clinical concern.
C1 [Williamson, Kathryn E.; Jakobson, Lorna S.] Univ Manitoba, Dept Psychol, Winnipeg, MB R3T 2N2, Canada.
RP Jakobson, LS (reprint author), Univ Manitoba, Dept Psychol, Winnipeg, MB R3T 2N2, Canada.
EM jakobson@cc.umanitoba.ca
FU University of Manitoba Graduate Fellowship; Manitoba Institute for Child
Health/Manitoba Health Research Council Studentship; Natural Sciences
and Engineering Research Council of Canada
FX This research was supported by a University of Manitoba Graduate
Fellowship and a Manitoba Institute for Child Health/Manitoba Health
Research Council Studentship to K. E. W., and by a grant from the
Natural Sciences and Engineering Research Council of Canada to L. S J.
The authors have declared that they have no competing or potential
conflicts of interest. The authors thank Joyce Magill-Evans and Cyndie
De Koning for advice regarding the scoring of the Child and Adolescent
Social Perception measure, Sarah Rigby and Lauren Galbraith for their
help with scoring; the staff of the High-Risk Newborn Follow-up Program,
and the children and parents who took part in this research.
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NR 41
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9630
EI 1469-7610
J9 J CHILD PSYCHOL PSYC
JI J. Child Psychol. Psychiatry
PD SEP
PY 2014
VL 55
IS 9
BP 990
EP 998
DI 10.1111/jcpp.12210
PG 9
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AN2JD
UT WOS:000340410000004
PM 24552579
ER
PT J
AU Kaluzna-Czaplinska, J
Zurawicz, E
Struck, W
Markuszewski, M
AF Kaluzna-Czaplinska, Joanna
Zurawicz, Ewa
Struck, Wiktoria
Markuszewski, Michal
TI Identification of organic acids as potential biomarkers in the urine of
autistic children using gas chromatography/mass spectrometry
SO JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL
AND LIFE SCIENCES
LA English
DT Article
DE Organic acids; Gas chromatography-mass spectrometry; Biomarkers; Autism;
Principal component analysis
ID BLOOD-BRAIN-BARRIER; PROPIONIC-ACID; SPECTRUM DISORDERS;
2-HYDROXYBUTYRIC ACID; CEREBROSPINAL-FLUID; DICARBOXYLIC-ACIDS;
MASS-SPECTROMETRY; SOCIAL-BEHAVIOR; ASCORBIC-ACID; SAUDI-ARABIA
AB There is a need to identify metabolic phenotypes in autism as they might each require unique approaches to prevention. Biological markers can help define autism subtypes and reveal potential therapeutic targets. The aim of the study was to identify alterations of small molecular weight compounds and to find potential biomarkers. Gas chromatography/mass spectrometry was employed to evaluate major metabolic changes in low molecular weight urine metabolites of 14 children with autism spectrum disorders vs. 10 non-autistic subjects. The results prove the usefulness of an identified set of 21 endogenous compounds (including 14 organic acids), whose levels are changed in diseased children. Gas chromatography/mass spectrometry method combined with multivariate statistical analysis techniques provide an efficient way of depicting metabolic perturbations of diseases, and may potentially be applicable as a novel strategy for the noninvasive diagnosis and treatment of autism. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Kaluzna-Czaplinska, Joanna; Zurawicz, Ewa] Lodz Univ Technol, Dept Chem, Inst Gen & Ecol Chem, PL-90924 Lodz, Poland.
[Struck, Wiktoria; Markuszewski, Michal] Med Univ Gdansk, Dept Biopharm & Pharmacodynam, PL-80416 Gdansk, Poland.
RP Kaluzna-Czaplinska, J (reprint author), Lodz Univ Technol, Dept Chem, Inst Gen & Ecol Chem, Zeromskiego 116, PL-90924 Lodz, Poland.
EM joanna.kaluzna-czaplinska@p.lodz.pl
RI Markuszewski, Michal/E-4768-2011
OI Markuszewski, Michal/0000-0003-1166-4817
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NR 100
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 1570-0232
EI 1873-376X
J9 J CHROMATOGR B
JI J. Chromatogr. B
PD SEP 1
PY 2014
VL 966
SI SI
BP 70
EP 76
DI 10.1016/j.jchromb.2014.01.041
PG 7
WC Biochemical Research Methods; Chemistry, Analytical
SC Biochemistry & Molecular Biology; Chemistry
GA AN1DP
UT WOS:000340323200008
PM 24565890
ER
PT J
AU Grondhuis, SN
Aman, MG
AF Grondhuis, S. N.
Aman, M. G.
TI Overweight and obesity in youth with developmental disabilities: a call
to action
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Review
DE autism; carers; intellectual disability; learning disability; parents
ID PRADER-WILLI-SYNDROME; AUTISM SPECTRUM DISORDERS; BODY-MASS INDEX;
OBSESSIVE-COMPULSIVE DISORDER; DISEASE RISK-FACTORS; CHILDHOOD OBESITY;
INTELLECTUAL DISABILITIES; WEIGHT-GAIN; ATYPICAL ANTIPSYCHOTICS;
PHYSICAL-FITNESS
AB Elevated weight status has become a leading problem for adults and children around the world, regardless of the presence or lack of disability. Youth with intellectual and developmental disabilities are more vulnerable than the typical population to overweight in recent decades, and these individuals often experience overweight and obesity at higher rates than their typically developing peers. Young people with disabilities have many circumstances, beyond those of typically developing children, which increase their risk for greater body mass. These include greater medication use, having syndromes with obesity as an associated symptom, and possessing altered eating habits related to their disability. We discuss obesity-related health risks, possible weight management options, recommendations for weight maintenance or loss, and future research. Although most professionals who work with youth having developmental disabilities do not have great expertise in nutrition and weight management, we must collectively recognise the importance of weight issues for quality of life of these individuals and work with them in maintaining healthy lifestyles. Intervention options, both for caregivers and for health professionals, are discussed.
C1 [Grondhuis, S. N.; Aman, M. G.] Ohio State Univ, Nisonger Ctr, Columbus, OH 43210 USA.
RP Grondhuis, SN (reprint author), Ohio State Univ, Nisonger Ctr, McCampbell Hall 175,1581 Dodd Dr, Columbus, OH 43210 USA.
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NR 96
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD SEP
PY 2014
VL 58
IS 9
BP 787
EP 799
DI 10.1111/jir.12090
PG 13
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AN2OQ
UT WOS:000340425600001
PM 24020517
ER
PT J
AU Bostrom, PK
Broberg, M
AF Bostrom, P. K.
Broberg, M.
TI Openness and avoidance - a longitudinal study of fathers of children
with intellectual disability
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Article
DE autism; Down syndrome; father; intellectual disability; learning
disability; parents
ID DOWN-SYNDROME; PRESCHOOL-CHILDREN; DEVELOPMENTAL-DISABILITIES; EMOTIONAL
AVAILABILITY; DISABLED-CHILDREN; PARENTING STRESS; MOTHERS; AUTISM;
FAMILIES; INVOLVEMENT
AB Background Fathers' interactions with children who have intellectual disabilities (ID) or developmental delays (DD) have increased over the past few decades and may be expected to continue to increase as maternal and paternal roles, along with other gender roles, become more equal. The aim of the present study was to explore fathers' experiences of parenthood in relation to a child with ID/DD from the initial discovery of the disability to 5 years later. Methods Fathers' experiences of parenting children with ID/DD were explored in a longitudinal framework. Seven Swedish fathers of young children with ID/DD participated in a series of semi-structured interviews from 2005 to 2010, and their accounts were subjected to interpretative phenomenological analysis. Results The analysis revealed three themes: (1) An interrupted path - no longer taking things for granted, which describes the fathers' reactions to their children's diagnosis; (2) Being a good father, which describes the fathers' overall perceptions of their parenting of a child with ID/DD; and (3) Dealing with the unexpected, which describes fathers' individual ways of integrating, managing, and living with the knowledge of their child's disability over the 5 years during which fathers were interviewed. Conclusions Fathers' individual paths need to be taken into consideration when offering psychological support to families of children with ID/DD.
C1 [Bostrom, P. K.; Broberg, M.] Univ Gothenburg, Dept Psychol, S-40530 Gothenburg, Sweden.
RP Bostrom, PK (reprint author), Univ Gothenburg, Dept Psychol, Box 500, S-40530 Gothenburg, Sweden.
EM petra.bostrom@psy.gu.se
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NR 47
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD SEP
PY 2014
VL 58
IS 9
BP 810
EP 821
DI 10.1111/jir.12093
PG 12
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AN2OQ
UT WOS:000340425600003
PM 24020633
ER
PT J
AU Kovacs, T
Bansagi, B
Kelemen, O
Keri, S
AF Kovacs, Tamas
Bansagi, Boglarka
Kelemen, Oguz
Keri, Szabolcs
TI Neuregulin 1-Induced AKT and ERK Phosphorylation in Patients with
Fragile X Syndrome (FXS) and Intellectual Disability Associated with
Obstetric Complications
SO JOURNAL OF MOLECULAR NEUROSCIENCE
LA English
DT Article
DE Fragile X syndrome; Neuregulin 1; AKT; ERK
ID MENTAL-RETARDATION PROTEIN; SIGNALING PATHWAY; MESSENGER-RNA;
SCHIZOPHRENIA; DISORDERS; EXPRESSION; FMRP; AUTISM; DYSFUNCTION;
MECHANISMS
AB Animal models of fragile X syndrome (FXS) suggest the impairment of the intracellular AKT messenger system, which is activated by neuregulin 1 (NRG1), a key regulator of neurodevelopment. We investigated NRG1-induced activation of the AKT and extracellular signal-regulated kinase (ERK) systems by the measurement of the phosphorylated AKT/ERK to total AKT/ERK ratio in peripheral B lymphoblasts of patients with FXS, IQ-matched controls with intellectual disability (obstetric complications, preterm birth, perinatal hypoxia, and low birth weight), and typically developed healthy participants. Results revealed that patients with FXS displayed decreased AKT but normal ERK activation after the administration of NRG1. IQ-matched controls with intellectual disability displayed intact AKT/ERK activation. In conclusion, FXS, but not intellectual disability associated with obstetric complications, is associated with decreased NRG1-induced AKT phosphorylation.
C1 [Kovacs, Tamas; Keri, Szabolcs] Nyiro Gyula Hosp, Natl Inst Psychiat & Addict, Budapest, Hungary.
[Bansagi, Boglarka] Semmelweis Univ, Dept Pediat 2, H-1085 Budapest, Hungary.
[Kelemen, Oguz] Bacs Kiskun Cty Hosp, Ctr Psychiat, Kecskemet, Hungary.
[Keri, Szabolcs] Univ Szeged, Fac Med, Dept Physiol, H-6720 Szeged, Hungary.
[Keri, Szabolcs] Budapest Univ Technol & Econ, Dept Cognit Sci, Budapest, Hungary.
RP Keri, S (reprint author), Univ Szeged, Fac Med, Dept Physiol, Dom Sq 10, H-6720 Szeged, Hungary.
EM szkeri2000@yahoo.com
FU [TAMOP-4.2.2.A-11/1/KONV-2012-0052]
FX This study was supported by TAMOP-4.2.2.A-11/1/KONV-2012-0052.
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NR 50
TC 0
Z9 0
PU HUMANA PRESS INC
PI TOTOWA
PA 999 RIVERVIEW DRIVE SUITE 208, TOTOWA, NJ 07512 USA
SN 0895-8696
EI 1559-1166
J9 J MOL NEUROSCI
JI J. Mol. Neurosci.
PD SEP
PY 2014
VL 54
IS 1
BP 119
EP 124
DI 10.1007/s12031-014-0257-z
PG 6
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AN3GP
UT WOS:000340474200013
PM 24563264
ER
PT J
AU Cortez, MD
de Rose, JC
Miguel, CF
AF Cortez, Mariele Diniz
de Rose, Julio C.
Miguel, Caio F.
TI The Role of Correspondence Training on Children's Self-Report Accuracy
across Tasks
SO PSYCHOLOGICAL RECORD
LA English
DT Article
DE Correspondence training; Do-say correspondence; Generalization; Lying;
Self-report
ID VERBAL NONVERBAL CORRESPONDENCE; ACTIVITY SCHEDULES; INCREASING PLAY;
VERBALIZATION; BEHAVIOR; REINFORCEMENT; MAINTENANCE; THOUGHTS; AUTISM;
SAMPLE
AB This study investigated children's self-report accuracy as a function of task type and also verified generalization of do-say correspondence across tasks. Six children between 6 and 11 years of age participated in the study. "Doing" consisted of reading words, playing a computer game, solving a math problem, and labeling music-related stimuli. "Saying" consisted of reporting on the accuracy of performance following the automated computer feedback. Baseline assessed correspondence for the different tasks. Correspondence training was conducted for the task in which levels of accuracy were the lowest. Generalized do-say correspondence was then assessed in untrained tasks. For four children, correspondence was lowest for the academic tasks. Four of six children exhibited generalized correspondence after the first training, and the remaining two children did so following a second training with a different task. Distinct tasks seemed to control different patterns of self-report accuracy. Results on generalization indicated do-say correspondence as a generalized operant behavior.
C1 [Cortez, Mariele Diniz; de Rose, Julio C.] Univ Fed Sao Carlos, BR-13560 Sao Carlos, SP, Brazil.
[Cortez, Mariele Diniz; de Rose, Julio C.] Inst Nacl Ciencia & Tecnol Comportamento Cognicao, Sao Carlos, SP, Brazil.
[Miguel, Caio F.] Calif State Univ Sacramento, Sacramento, CA 95819 USA.
[de Rose, Julio C.] Dept Psicol, BR-13565905 Sao Paulo, Brazil.
RP de Rose, JC (reprint author), Dept Psicol, Rodovia Washington Luis,Km 235 SP 310, BR-13565905 Sao Paulo, Brazil.
EM juliocderose@yahoo.com.br
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NR 40
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0033-2933
EI 2163-3452
J9 PSYCHOL REC
JI Psychol. Rec.
PD SEP
PY 2014
VL 64
IS 3
BP 393
EP 402
DI 10.1007/s40732-014-0061-8
PG 10
WC Psychology, Multidisciplinary
SC Psychology
GA AN1VS
UT WOS:000340372700005
ER
PT J
AU Perez-Gonzalez, LA
Belloso-Diaz, C
Carames-Mendez, M
Alonso-Alvarez, B
AF Antonio Perez-Gonzalez, Luis
Belloso-Diaz, Carlota
Carames-Mendez, Maria
Alonso-Alvarez, Benigno
TI Emergence of Complex Intraverbals Determined by Simpler Intraverbals
SO PSYCHOLOGICAL RECORD
LA English
DT Article
DE Intraverbals; Verbal behavior; Stimulus equivalence; Stimulus relations;
Reasoning; Answering questions; Adults
ID STIMULUS-CONTROL PROCEDURES; DEVELOPMENTAL-DISABILITIES; EMERGING
SPEECH; CHILDREN; BEHAVIOR; RESPONSES; AUTISM
AB This research explored some factors involved in the emergence of intraverbals as demonstrated by P,rez-Gonzalez, Herszlikowicz, and Williams (2008) in three experiments. Eleven adults learned to say the chemical elements corresponding to two chemical groups (the A-B relations) and to say the atomic numbers of two elements (the B-C relations). Thereafter, we probed the relations that result from combining these stimuli. For example, we asked the groups corresponding to the atomic numbers (the C-A relations). In Experiment 1, we taught A-B and B-C and probed the remaining relations without additional teaching. In Experiment 2, with Categories, participants learned to say the categories of the exemplars (i.e., "What is polonium?" -the correct answer was "an element"). In Experiment 3, with Exemplars, participants learned to say the exemplars of the categories (i.e., "Name a chemical element"; the correct answers were the two chemical elements). The Categories facilitated emergence in some but not all participants. The Exemplars was shown to be effective in promoting the emergence of the emergent relations. These results indicate that the simpler intraverbals (Categories and Exemplars) play a role in the emergence of the more complex intraverbals.
C1 [Antonio Perez-Gonzalez, Luis; Belloso-Diaz, Carlota; Carames-Mendez, Maria; Alonso-Alvarez, Benigno] Univ Oviedo, Dept Psychol, Oviedo 33003, Spain.
RP Perez-Gonzalez, LA (reprint author), Univ Oviedo, Dept Psychol, Plaza Feijoo S-N Despacho 209, Oviedo 33003, Spain.
EM laperez@uniovi.es
RI Perez-Gonzalez, Luis/L-2338-2014
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NR 37
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0033-2933
EI 2163-3452
J9 PSYCHOL REC
JI Psychol. Rec.
PD SEP
PY 2014
VL 64
IS 3
BP 509
EP 526
DI 10.1007/s40732-014-0047-6
PG 18
WC Psychology, Multidisciplinary
SC Psychology
GA AN1VS
UT WOS:000340372700017
ER
PT J
AU Gliga, T
Jones, EJH
Bedford, R
Charman, T
Johnson, MH
AF Gliga, T.
Jones, E. J. H.
Bedford, R.
Charman, T.
Johnson, M. H.
TI From early markers to neuro-developmental mechanisms of autism
SO DEVELOPMENTAL REVIEW
LA English
DT Article
DE Infants; Autism; The "social brain"; Sensory processing
ID SPECTRUM DISORDERS; EXECUTIVE FUNCTION; SOCIAL-PERCEPTION; JOINT
ATTENTION; YOUNG-CHILDREN; EYE-GAZE; COMMUNICATION DIFFICULTIES;
FUNCTIONAL CONNECTIVITY; ORBITOFRONTAL CORTEX; BIOLOGICAL MOTION
AB A fast growing field, the study of infants at risk because of having an older sibling with autism (i.e. infant sibs) aims to identify the earliest signs of this disorder, which would allow for earlier diagnosis and intervention. More importantly, we argue, these studies offer the opportunity to validate existing neuro-developmental models of autism against experimental evidence. Although autism is mainly seen as a disorder of social interaction and communication, emerging early markers do not exclusively reflect impairments of the "social brain". Evidence for atypical development of sensory and attentional systems highlight the need to move away from localized deficits to models suggesting brain-wide involvement in autism pathology. We discuss the implications infant sibs findings have for future work into the biology of autism and the development of interventions. (c) 2014 The Authors. Published by Elsevier Inc.
C1 [Gliga, T.; Jones, E. J. H.; Johnson, M. H.] Univ London Birkbeck Coll, Ctr Brain & Cognit Dev, London WC1E 7HX, England.
[Bedford, R.] Kings Coll London, Inst Psychiat, Dept Biostat, London WC2R 2LS, England.
[Charman, T.] Kings Coll London, Inst Psychiat, Dept Psychol, London WC2R 2LS, England.
RP Gliga, T (reprint author), Univ London Birkbeck Coll, Ctr Brain & Cognit Dev, Malet St, London WC1E 7HX, England.
EM t.gliga@bbk.ac.uk
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NR 154
TC 1
Z9 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0273-2297
EI 1090-2406
J9 DEV REV
JI Dev. Rev.
PD SEP
PY 2014
VL 34
IS 3
BP 189
EP 207
DI 10.1016/j.dr.2014.05.003
PG 19
WC Psychology, Developmental
SC Psychology
GA AM6OU
UT WOS:000339985300001
ER
PT J
AU Spencer, VG
Evmenova, AS
Boon, RT
Hayes-Harris, L
AF Spencer, Vicky G.
Evmenova, Anya S.
Boon, Richard T.
Hayes-Harris, Laura
TI Review of Research-Based Interventions for Students with Autism Spectrum
Disorders in Content Area Instruction: Implications and Considerations
for Classroom Practice
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Review
ID MODERATE INTELLECTUAL DISABILITIES; TEACH ADDITION FACTS;
ASPERGER-SYNDROME; DEVELOPMENTAL-DISABILITIES; COGNITIVE DISABILITIES;
PLANNING INSTRUCTION; STRATEGY INSTRUCTION; READING-INSTRUCTION; COLORED
OVERLAYS; SCHOOL-STUDENTS
AB The purpose of this article is to provide a comprehensive review of the published research-based strategies used in content area instruction for students with autism spectrum disorders (ASD). Twenty-eight (N = 28) studies published from 2000-2012 that met the criteria for inclusion were located, reviewed, and synthesized. Findings revealed the vast majority of research has been conducted at the elementary and mixed grade-levels, while only a few studies were found focusing on students in the secondary grade levels. In addition, we found most of the existing research to focus primarily on reading, writing, mathematics, and/or a combination of these areas; however, studies in social studies and science instruction were scant, with only three studies identified. Effective interventions that emerged from this review included such strategies as: (a) visual supports; (b) technology-based instruction; (c) concrete representation; (d) direct instruction; and (e) behavioral interventions. Implications for both general and special educators working with students with ASD, limitations, and directions for future research are discussed.
C1 [Spencer, Vicky G.; Evmenova, Anya S.; Hayes-Harris, Laura] George Mason Univ, Fairfax, VA 22030 USA.
[Boon, Richard T.] Univ Texas San Antonio, San Antonio, TX USA.
RP Spencer, VG (reprint author), George Mason Univ, Coll Educ & Human Dev, MS 1 F2, Fairfax, VA 22030 USA.
EM vspencer@gmu.edu
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NR 70
TC 0
Z9 0
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD SEP
PY 2014
VL 49
IS 3
BP 331
EP 353
PG 23
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AN0XH
UT WOS:000340306800001
ER
PT J
AU Lo, YY
Burk, B
Anderson, AL
AF Lo, Ya-yu
Burk, Bradley
Anderson, Adrienne L.
TI Using Progressive Video Prompting to Teach Students with Moderate
Intellectual Disability to Shoot a Basketball
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
ID DAILY LIVING SKILLS; AUTISM SPECTRUM DISORDERS; OF-THE-LITERATURE;
DEVELOPMENTAL-DISABILITIES; COOKING SKILLS; INTERVENTION; INDIVIDUALS;
ADOLESCENTS; INSTRUCTION; CHILDREN
AB The current study examined the effects of a modified video prompting procedure, namely progressive video prompting, to increase technique accuracy of shooting a basketball in the school gymnasium of three 11th-grade students with moderate intellectual disability. The intervention involved participants viewing video clips of an adult model who showed progressively chucked steps for making a free throw. We used a single-case, multiple probe across participants design to evaluate the intervention effects. The results of this study showed that all three participants increased the number of steps performed correctly and maintained the skill at the 1-week and 2-week maintenance check without the video viewing. Implications for practice and future research related to video prompting variations are discussed.
C1 [Lo, Ya-yu] Univ N Carolina, Charlotte, NC 28223 USA.
[Anderson, Adrienne L.] Western Carolina Univ, Cullowhee, NC USA.
RP Lo, YY (reprint author), Univ N Carolina, Dept Special Educ & Child Dev, 9201 Univ City Blvd, Charlotte, NC 28223 USA.
EM ylo1@uncc.edu
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NR 46
TC 0
Z9 0
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD SEP
PY 2014
VL 49
IS 3
BP 354
EP 367
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AN0XH
UT WOS:000340306800002
ER
PT J
AU Pennington, RC
Collins, BC
Stenhoff, DM
Turner, K
Gunselman, K
AF Pennington, Robert C.
Collins, Belva C.
Stenhoff, Donald M.
Turner, Kennedy
Gunselman, Karen
TI Using Simultaneous Prompting and Computer-Assisted Instruction to Teach
Narrative Writing Skills to Students with Autism
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
ID LEARNING-DISABLED STUDENTS; OF-THE-LITERATURE; NO CHILD LEFT;
DEVELOPMENTAL-DISABILITIES; ASPERGER-SYNDROME; PLANNING INSTRUCTION;
SPECTRUM DISORDERS; WRITTEN; ADOLESCENTS; PERFORMANCE
AB Despite the importance of written expression to the lives of individuals with autism spectrum disorders (ASD), there is limited research on teaching writing skills to this population. In the current study, we used a multiple probe across behaviors design to evaluate the effects of simultaneous prompting (SP) and computer-assisted instruction (CAI) on the story writing responses of five males with autism, 6 to 10 years of age. The data indicated that SP and CAI were effective in improving the story writing skills of all five participants. In addition, all participants increased non-targeted reading skills, the use of novel response forms, and demonstrated at least partial maintenance and generalization of story writing skills.
C1 [Pennington, Robert C.] Univ Louisville, Louisville, KY 40292 USA.
[Collins, Belva C.] Univ Kentucky, Lexington, KY 40506 USA.
[Stenhoff, Donald M.] Bista Autism Ctr, Phoenix, AZ USA.
[Turner, Kennedy; Gunselman, Karen] Jefferson Cty Publ Sch, Lakewood, CO USA.
RP Pennington, RC (reprint author), Univ Louisville, Coll Educ & Human Dev, Dept Special Educ, Louisville, KY 40292 USA.
EM robert.pennington@louisville.edu
CR Akmanoglu N, 2004, EDUC TRAIN DEV DISAB, V39, P326
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NR 49
TC 0
Z9 0
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD SEP
PY 2014
VL 49
IS 3
BP 396
EP 414
PG 19
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AN0XH
UT WOS:000340306800005
ER
PT J
AU Odluyurt, S
Tekin-Iftar, E
Ersoy, G
AF Odluyurt, Serhat
Tekin-Iftar, Elif
Ersoy, Gulhan
TI Effects of School Counselor Supervised Peer Tutoring in Inclusive
Settings on Meeting IEP Outcomes of Students with Developmental
Disabilities
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
ID SIGHT WORDS; AUTISM; INSTRUCTION; CHILDREN; SKILLS; INDIVIDUALS;
BEHAVIORS; ADULTS; TEACH
AB The purpose of this study was to investigate the effects of school counselor supervised peer tutoring intervention on meeting IEP outcomes of six inclusion students with developmental disabilities in a public elementary and secondary school. The effectiveness of this intervention was evaluated by using multiple probe design across students. Elementary school students (3rd graders) were taught purchasing skill at school canteen and the secondary level students (7th and 8th graders) were taught first-aid skill. Three typical peers served as tutors for each student. The results showed that the school counselor successfully supervised peer tutoring intervention, the tutor reliably delivered intervention to their peers with developmental disabilities, and tutees acquired, maintained and generalized the skills on their IEPs. In addition, tutees reported positive opinions regarding the social validity of the study. Results, future research, and implications for practice are discussed.
C1 [Odluyurt, Serhat; Tekin-Iftar, Elif] Anadolu Univ, TR-26470 Eskisehir, Turkey.
[Ersoy, Gulhan] Barbaros Primary Sch, Kutahya, Turkey.
RP Tekin-Iftar, E (reprint author), Anadolu Univ, Engelliler Arastirma Enstitusu, TR-26470 Eskisehir, Turkey.
EM eltekin@anadolu.edu.tr
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NR 48
TC 0
Z9 0
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD SEP
PY 2014
VL 49
IS 3
BP 415
EP 428
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AN0XH
UT WOS:000340306800006
ER
PT J
AU Pescosolido, MF
Schwede, M
Harrison, AJ
Schmidt, M
Gamsiz, ED
Chen, WS
Donahue, JP
Shur, N
Jerskey, BA
Phornphutkul, C
Morrow, EM
AF Pescosolido, Matthew F.
Schwede, Matthew
Harrison, Ashley Johnson
Schmidt, Michael
Gamsiz, Ece D.
Chen, Wendy S.
Donahue, John P.
Shur, Natasha
Jerskey, Beth A.
Phornphutkul, Chanika
Morrow, Eric M.
TI Expansion of the clinical phenotype associated with mutations in
activity-dependent neuroprotective protein
SO JOURNAL OF MEDICAL GENETICS
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; DE-NOVO MUTATIONS; GENES; ADNP
C1 [Pescosolido, Matthew F.; Schwede, Matthew; Schmidt, Michael; Gamsiz, Ece D.; Morrow, Eric M.] Dept Mol Biol Cell Biol & Biochem, Providence, RI USA.
[Pescosolido, Matthew F.] Brown Univ, Mol Med Lab, Inst Brain Sci, Providence, RI 02912 USA.
[Pescosolido, Matthew F.; Harrison, Ashley Johnson; Gamsiz, Ece D.; Jerskey, Beth A.; Morrow, Eric M.] Brown Univ, Emma Pendleton Bradley Hosp, Dev Disorders Genet Res Program, East Providence, RI USA.
[Pescosolido, Matthew F.; Harrison, Ashley Johnson; Gamsiz, Ece D.; Jerskey, Beth A.; Morrow, Eric M.] Brown Univ, Dept Psychiat & Human Behav, Alpert Med Sch, East Providence, RI USA.
[Pescosolido, Matthew F.; Harrison, Ashley Johnson; Schmidt, Michael; Gamsiz, Ece D.; Jerskey, Beth A.; Morrow, Eric M.] Rhode Isl Consortium Autism Res & Treatment RI CA, Providence, RI USA.
[Chen, Wendy S.; Donahue, John P.] Brown Univ, Dept Surg, Alpert Med Sch, Div Ophthalmol, Providence, RI 02912 USA.
[Shur, Natasha] Albany Med Ctr, Childrens Hosp, Div Genet, Dept Pediat, Albany, NY USA.
[Phornphutkul, Chanika] Rhode Isl Hosp, Div Human Genet, Dept Pediat, Providence, RI USA.
[Phornphutkul, Chanika] Brown Univ, Providence, RI 02912 USA.
RP Morrow, EM (reprint author), Brown Univ, Mol Med Lab, 70 Ship St, Providence, RI 02912 USA.
EM eric_morrow@brown.edu
FU Burroughs Wellcome Fund; NIH NIGMS [P20GM103645]; Simons Foundation
(SFARI) [239834, 286756]; Nancy Lurie Marks Foundation; Brown Institute
for Brain Science (BIBS); Norman Prince Neuroscience Institute (NPNI)
FX EMM has received a Career Award in Medical Science from the Burroughs
Wellcome Fund and support from NIH NIGMS P20GM103645. This work was
supported by grants from the Simons Foundation (SFARI #239834 & #286756
to EMM) and also generous support to EMM from the Nancy Lurie Marks
Foundation. Brown Institute for Brain Science (BIBS) and Norman Prince
Neuroscience Institute (NPNI).
CR Bassan M, 1999, J NEUROCHEM, V72, P1283, DOI 10.1046/j.1471-4159.1999.0721283.x
Gotham K, 2009, J AUTISM DEV DISORD, V39, P693, DOI 10.1007/s10803-008-0674-3
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NR 11
TC 1
Z9 1
PU BMJ PUBLISHING GROUP
PI LONDON
PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
SN 0022-2593
EI 1468-6244
J9 J MED GENET
JI J. Med. Genet.
PD SEP
PY 2014
VL 51
IS 9
BP 587
EP 589
DI 10.1136/jmedgenet-2014-102444
PG 3
WC Genetics & Heredity
SC Genetics & Heredity
GA AN0AE
UT WOS:000340242400004
PM 25057125
ER
PT J
AU Rasmussen, MB
Nielsen, JV
Loureno, CM
Melo, JB
Halgren, C
Geraldi, CVL
MarquesJr, W
Rodrigues, GR
Thomassen, M
Bak, M
Hansen, C
Ferreira, SI
Venancio, M
Henriksen, KF
Lind-Thomsen, A
Carreira, IM
Jensen, NA
Tommerup, N
AF Rasmussen, Malene B.
Nielsen, Jakob V.
Loureno, Charles M.
Melo, Joana B.
Halgren, Christina
Geraldi, Camila V. L.
Marques, Wilson, Jr.
Rodrigues, Guilherme R.
Thomassen, Mads
Bak, Mads
Hansen, Claus
Ferreira, Susana I.
Venancio, Margarida
Henriksen, Karen F.
Lind-Thomsen, Allan
Carreira, Isabel M.
Jensen, Niels A.
Tommerup, Niels
TI Neurodevelopmental disorders associated with dosage imbalance of ZBTB20
correlate with the morbidity spectrum of ZBTB20 candidate target genes
SO JOURNAL OF MEDICAL GENETICS
LA English
DT Article
ID 3Q13.31 MICRODELETION; DEVELOPMENTAL DELAY; PREPULSE INHIBITION; NEURON
DEVELOPMENT; AUTISM RESEARCH; DATABASE; RESOURCE; TRANSCRIPTION;
HIPPOCAMPUS; PHENOTYPE
AB Background Recently, a number of patients have been described with structural rearrangements at 3q13.31, delineating a novel microdeletion syndrome with common clinical features including developmental delay and other neurodevelopmental disorders (NDD). A smallest region of overlapping deletions (SRO) involved five RefSeq genes, including the transcription factor gene ZBTB20 and the dopamine receptor gene DRD3, considered as candidate genes for the syndrome.
Methods and results We used array comparative genomic hybridization and next-generation mate-pair sequencing to identify key structural rearrangements involving ZBTB20 in two patients with NDD. In a patient with developmental delay, attention-deficit hyperactivity disorder, psychosis, Tourette's syndrome and autistic traits, a de novo balanced t(3; 18) translocation truncated ZBTB20. The other breakpoint did not disrupt any gene. In a second patient with developmental delay and autism, we detected the first microdeletion at 3q13.31, which truncated ZBTB20 but did not involve DRD3 or the other genes within the previously defined SRO. Zbtb20 directly represses 346 genes in the developing murine brain. Of the 342 human orthologous ZBTB20 candidate target genes, we found 68 associated with NDD. Using chromatin immunoprecipitation and quantitative PCR, we validated the in vivo binding of Zbtb20 in evolutionary conserved regions in six of these genes (Cntn4, Gad1, Nrxn1, Nrxn3, Scn2a, Snap25).
Conclusions Our study links dosage imbalance of ZBTB20 to a range of neurodevelopmental, cognitive and psychiatric disorders, likely mediated by dysregulation of multiple ZBTB20 target genes, and provides new knowledge on the genetic background of the NDD seen in the 3q13.31 microdeletion syndrome.
C1 [Rasmussen, Malene B.; Halgren, Christina; Bak, Mads; Hansen, Claus; Henriksen, Karen F.; Lind-Thomsen, Allan; Tommerup, Niels] Univ Copenhagen, Wilhelm Johannsen Ctr Funct Genome Res, Dept Cellular & Mol Med, Fac Hlth Sci, DK-2200 Copenhagen N, Denmark.
[Nielsen, Jakob V.; Jensen, Niels A.] Univ Southern Denmark, Inst Mol Med, Dept Neurobiol Res, Odense C, Denmark.
[Loureno, Charles M.; Marques, Wilson, Jr.; Rodrigues, Guilherme R.] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Neurosci & Behav Sci, Neurogenet Unit, BR-14049 Ribeirao Preto, Brazil.
[Melo, Joana B.; Carreira, Isabel M.] Univ Coimbra, Lab Citogenet & Genom, Coimbra, Portugal.
[Melo, Joana B.; Carreira, Isabel M.] Univ Coimbra, CIMAGO, Fac Med, Coimbra, Portugal.
[Thomassen, Mads] Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense C, Denmark.
[Ferreira, Susana I.] Univ Coimbra, Fac Med, Lab Clin & Genet, Coimbra, Portugal.
[Venancio, Margarida] Ctr Hosp & Univ Coimbra, Serv Genet Med, Coimbra, Portugal.
[Venancio, Margarida] Univ Coimbra, Fac Med, Coimbra, Portugal.
RP Tommerup, N (reprint author), Univ Copenhagen, Wilhelm Johannsen Ctr Funct Genome Res, Dept Cellular & Mol Med, Fac Hlth Sci, Blegdamsvej 3,24-4-30, DK-2200 Copenhagen N, Denmark.
EM ntommerup@sund.ku.dk
RI Melo, Joana/K-8347-2014; Marques, Wilson/G-4240-2012
OI Melo, Joana/0000-0001-5049-2670; Marques, Wilson/0000-0002-4589-2749
FU Lundbeck Foundation; Augustinus Foundation; Aase & Ejnar Danielsen's
Foundation; Faculty of Health Sciences, University of Copenhagen
FX This study was supported by grants from the Lundbeck Foundation, the
Augustinus Foundation and Aase & Ejnar Danielsen's Foundation and from
the Faculty of Health Sciences, University of Copenhagen.
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NR 50
TC 1
Z9 1
PU BMJ PUBLISHING GROUP
PI LONDON
PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
SN 0022-2593
EI 1468-6244
J9 J MED GENET
JI J. Med. Genet.
PD SEP
PY 2014
VL 51
IS 9
BP 605
EP U6613
DI 10.1136/jmedgenet-2014-102535
PG 9
WC Genetics & Heredity
SC Genetics & Heredity
GA AN0AE
UT WOS:000340242400007
PM 25062845
ER
PT J
AU Furlong, MA
Engel, SM
Barr, DB
Wolff, MS
AF Furlong, Melissa A.
Engel, Stephanie M.
Barr, Dana Boyd
Wolff, Mary S.
TI Prenatal exposure to organophosphate pesticides and reciprocal social
behavior in childhood
SO ENVIRONMENT INTERNATIONAL
LA English
DT Article
DE Social Responsiveness Scale; Organophosphate pesticides; Environmental
exposures; Neurodevelopment
ID NEONATAL CHLORPYRIFOS EXPOSURE; MEXICAN-AMERICAN CHILDREN; AUTISM
SPECTRUM DISORDER; IN-UTERO; SEROTONERGIC MECHANISMS; BRAIN-DEVELOPMENT;
YOUNG-CHILDREN; FETAL-GROWTH; NEURODEVELOPMENT; POPULATION
AB Prenatal exposure to organophosphate pesticides (OPs) has been associated with adverse neurodevelopmental outcomes in childhood, including low IQ pervasive developmental disorder (PDD), attention problems and ADHD. Many of these disorders involve impairments in social functioning. Thus, we investigated the relationship between biomarkers of prenatal OP exposure and impaired reciprocal social behavior in childhood, as measured by the Social Responsiveness Scale (SRS). Using a multi-ethnic urban prospective cohort of mother-infant pairs in New York City recruited between 1998 and 2002 (n = 404) we examined the relation between third trimester maternal urinary levels of dialkylphosphate (Sigma DAP) OP metabolites and SRS scores among 136 children who returned for the 7-9 year visit. Overall, there was no association between OPs and SRS scores, although in multivariate adjusted models, associations were heterogeneous by race and by sex. Among blacks, each 10-fold increase in total diethylphosphates (Sigma DEP) was associated with poorer social responsiveness (beta = 5.1 points, 95% confidence interval (CI) 0.8, 9.4). There was no association among whites or Hispanics, or for total ZDAP or total dimethylphosphate (Sigma DMP) biomarker levels. Additionally, stratum-specific models supported a stronger negative association among boys for Sigma DEPs (beta = 3.5 points, 95% CI 02, 6.8), with no notable association among girls. Our results support an association of prenatal OP exposure with deficits in social functioning among blacks and among boys, although this may be in part reflective of differences in exposure patterns. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Furlong, Melissa A.; Engel, Stephanie M.] Univ N Carolina, Dept Epidemiol, Gillings Sch Global Publ Hlth, Chapel Hill, NC 27599 USA.
[Barr, Dana Boyd] Emory Univ, Rollins Sch Publ Hlth, Atlanta, GA 30322 USA.
[Wolff, Mary S.] Mt Sinai Sch Med, Dept Prevent Med, New York, NY USA.
RP Furlong, MA (reprint author), Univ N Carolina, Box 7435, Chapel Hill, NC 27599 USA.
EM furlongm@med.unc.edu
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NR 47
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0160-4120
EI 1873-6750
J9 ENVIRON INT
JI Environ. Int.
PD SEP
PY 2014
VL 70
BP 125
EP 131
DI 10.1016/j.envint.2014.05.011
PG 7
WC Environmental Sciences
SC Environmental Sciences & Ecology
GA AM2PL
UT WOS:000339693200014
PM 24934853
ER
PT J
AU Tunc, B
Ghanbari, Y
Smith, AR
Pandey, J
Browne, A
Schultz, RT
Verma, R
AF Tunc, Birkan
Ghanbari, Yasser
Smith, Alex R.
Pandey, Juhi
Browne, Aaron
Schultz, Robert T.
Verma, Ragini
TI PUNCH: Population Characterization of Heterogeneity
SO NEUROIMAGE
LA English
DT Article
DE Heterogeneity; Autism Spectrum Disorders; Severity measure
ID AUTISM SPECTRUM DISORDER; PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC
INTERVIEW; CLASSIFICATION; QUESTIONNAIRE; CHILDREN; RDOC; FRAMEWORK;
CRITERIA; MACHINE
AB Neuropsychiatric disorders are notoriously heterogeneous in their presentation, which precludes straightforward and objective description of the differences between affected and typical populations that therefore makes finding reliable biomarkers a challenge. This difficulty underlines the need for reliable methods to capture sample characteristics of heterogeneity using a single continuous measure, incorporating the multitude of score used to describe different aspects of functioning. This study addresses this challenge by proposing a gener method of identifying and quantifying the heterogeneity of any clinical population using a severity meastn, called the PUNCH (Population Characterization of Heterogeneity). PUNCH is a decision level fusion techniquc to incorporate decisions of various phenotypic scores, while providing interpretable weights for scores. We provide applications of our framework to simulated datasets and to a large sample of youth with Autism Spectrun Disorder (ASD). Next we stratify PUNCH scores in our ASD sample and show how severity moderates findings o group differences in diffusion weighted brain imaging data; more severely affected subgroups of ASD sho) expanded differences compared to age and gender matched healthy controls. Results demonstrate the abilit of our measure in quantifying the underlying heterogeneity of the clinical samples, and suggest its utility in providing researchers with reliable severity assessments incorporating population heterogeneity. (C) 2014 Elsevier Inc. All rights reserved
C1 [Tunc, Birkan; Ghanbari, Yasser; Smith, Alex R.; Verma, Ragini] Univ Penn, Perelman Sch Med, Dept Radiol, Ctr Biomed Image Comp & Analyt, Philadelphia, PA 19104 USA.
[Pandey, Juhi; Browne, Aaron; Schultz, Robert T.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA.
[Schultz, Robert T.] Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA.
[Schultz, Robert T.] Univ Penn, Perelman Sch Med, Dept Psychiat, Philadelphia, PA 19104 USA.
RP Verma, R (reprint author), Sect Biomed Image Anal, 3600 Market St,Suite 380, Philadelphia, PA 19104 USA.
EM Ragini.Verma@uphs.upenn.edu
FU National Institutes of Health [NIMH 1RC1MH088791, R01-MH092862,
R21-MH098010, P30-HD026979]; Pennsylvania Department of Health (SAP)
[4100042728, 4100047863]
FX This research was supported by grants from National Institutes of Health
(NIMH 1RC1MH088791 to Robert T. Schultz, P30-HD026979 to M. Yudkoff, and
R01-MH092862 and R21-MH098010 to Ragini Verma) and grants from the
Pennsylvania Department of Health (SAP # 4100042728 and SAP #4100047863
to Robert T. Schultz).
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NR 47
TC 1
Z9 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1053-8119
EI 1095-9572
J9 NEUROIMAGE
JI Neuroimage
PD SEP
PY 2014
VL 98
BP 50
EP 60
DI 10.1016/j.neuroimage.2014.04.068
PG 11
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AM2UQ
UT WOS:000339706700006
PM 24799135
ER
PT J
AU Meaux, E
Taylor, MJ
Pang, EW
Vara, AS
Batty, M
AF Meaux, Emilie
Taylor, Margot J.
Pang, Elizabeth W.
Vara, Anjili S.
Batty, Magali
TI Neural Substrates of Numerosity Estimation in Autism
SO HUMAN BRAIN MAPPING
LA English
DT Article
DE numerosity estimation; local and global perception; autism; MEG
ID MENTAL NUMBER LINE; POSTERIOR PARIETAL CORTEX; PRIMATE PREFRONTAL
CORTEX; HIGH-FUNCTIONING AUTISM; VOXEL-BASED MORPHOMETRY; VISUAL
WORKING-MEMORY; MEDIAL TEMPORAL-LOBE; INTRAPARIETAL SULCUS;
ELECTROPHYSIOLOGICAL EVIDENCE; PERCEIVED NUMEROSITY
AB Visual skills, including numerosity estimation are reported to be superior in autism spectrum disorders (ASD). This phenomenon is attributed to individuals with ASD processing local features, rather than the Gestalt. We examined the neural correlates of numerosity estimation in adults with and without ASD, to disentangle perceptual atypicalities from numerosity processing. Fourteen adults with ASD and matched typically developed (TD) controls estimated the number of dots (80-150) arranged either randomly (local information) or in meaningful patterns (global information) while brain activity was recorded with magnetoencephalography (MEG). Behavioral results showed no significant group difference in the errors of estimation. However, numerical estimation in ASD was more variable across numerosities than TD and was not affected by the global arrangement of the dots. At 80-120 ms, MEG analyses revealed early significant differences (TD>ASD) in source amplitudes in visual areas, followed from 120 to 400 ms by group differences in temporal, and then parietal regions. After 400 ms, a source was found in the superior frontal gyrus in TD only. Activation in temporal areas was differently sensitive to the global arrangement of dots in TD and ASD. MEG data show that individuals with autism exhibit widespread functional abnormalities. Differences in temporal regions could be linked to atypical global perception. Occipital followed by parietal and frontal differences might be driven by abnormalities in the processing and conversion of visual input into a number-selective neural code and complex cognitive decisional stages. These results suggest overlapping atypicalities in sensory, perceptual and number-related processing during numerosity estimation in ASD. Hum Brain Mapp 35:4362-4385, 2014. (C) 2014 Wiley Periodicals, Inc.
C1 [Meaux, Emilie] Univ Med Ctr, Dept Neurosci & Clin Neurol, Lab Neurol & Imaging Cognit, Geneva, Switzerland.
[Taylor, Margot J.; Vara, Anjili S.] Univ Toronto, Hosp Sick Children, Dept Diagnost Imaging, Toronto, ON M5S 1A1, Canada.
[Taylor, Margot J.; Vara, Anjili S.] Univ Toronto, Dept Psychol & Med Imaging, Toronto, ON M5S 1A1, Canada.
[Pang, Elizabeth W.] Univ Toronto, Hosp Sick Children, Div Neurol, Toronto, ON M5S 1A1, Canada.
[Batty, Magali] Univ Tours, CHRU Tours, Ctr Pedopsychiat, INSERM,U930,UMR Imagerie & Cerveau, F-37000 Tours, France.
RP Meaux, E (reprint author), Univ Med Ctr, Dept Neurosci & Clin Neurol, Lab Neurol & Imaging Cognit, Geneva, Switzerland.
EM Emilie.Meaux@unige.ch
FU CIHR [MOP-81161]; SickKids Hospital of Toronto; Planiol Fundation;
BRIDGE Fellowship of the Marie Curie Foundation
FX Contract grant sponsor: CIHR; Contract grant number: MOP-81161; Contract
grant sponsor: SickKids Hospital of Toronto; Contract grant sponsor:
Planiol Fundation; Contract grant sponsor: BRIDGE Fellowship of the
Marie Curie Foundation
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NR 209
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1065-9471
EI 1097-0193
J9 HUM BRAIN MAPP
JI Hum. Brain Mapp.
PD SEP
PY 2014
VL 35
IS 9
BP 4362
EP 4385
DI 10.1002/hbm.22480
PG 24
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AM0VZ
UT WOS:000339567000008
PM 24639374
ER
PT J
AU Romano, D
Nicolau, M
Quintin, EM
Mazaika, PK
Lightbody, AA
Hazlett, HC
Piven, J
Carlsson, G
Reiss, AL
AF Romano, David
Nicolau, Monica
Quintin, Eve-Marie
Mazaika, Paul K.
Lightbody, Amy A.
Hazlett, Heather Cody
Piven, Joseph
Carlsson, Gunnar
Reiss, Allan L.
TI Topological Methods Reveal High and Low Functioning Neuro-Phenotypes
Within Fragile X Syndrome
SO HUMAN BRAIN MAPPING
LA English
DT Article
DE autism spectrum behavior; MRI; topological data analysis; multivariate
pattern analysis; voxel-based morphometry
ID IMAGE-ANALYSIS; AUTISM; BOYS; DISORDERS; THRESHOLD; SPECTRUM
AB Fragile X syndrome (FXS), due to mutations of the FMR1 gene, is the most common known inherited cause of developmental disability as well as the most common single-gene risk factor for autism. Our goal was to examine variation in brain structure in FXS with topological data analysis (TDA), and to assess how such variation is associated with measures of IQ and autism-related behaviors. To this end, we analyzed imaging and behavioral data from young boys (n = 52; aged 1.57-4.15 years) diagnosed with FXS. Application of topological methods to structural MRI data revealed two large subgroups within the study population. Comparison of these subgroups showed significant between-subgroup neuroanatomical differences similar to those previously reported to distinguish children with FXS from typically developing controls (e. g., enlarged caudate). In addition to neuroanatomy, the groups showed significant differences in IQ and autism severity scores. These results suggest that despite arising from a single gene mutation, FXS may encompass two biologically, and clinically separable phenotypes. In addition, these findings underscore the potential of TDA as a powerful tool in the search for biological phenotypes of neuropsychiatric disorders. (C) 2014 Wiley Periodicals, Inc.
C1 [Romano, David; Quintin, Eve-Marie; Mazaika, Paul K.; Lightbody, Amy A.; Reiss, Allan L.] Stanford Univ, Sch Med, Ctr Interdisciplinary Brain Sci Res, Stanford, CA 94305 USA.
[Nicolau, Monica; Carlsson, Gunnar] Stanford Univ, Dept Math, Stanford, CA 94305 USA.
[Hazlett, Heather Cody; Piven, Joseph] UNC, Carolina Inst Dev Disabil, Chapel Hill, NC USA.
RP Romano, D (reprint author), Stanford Univ, 401 Quarry Rd,Rm 1356,MC 5795, Stanford, CA 94305 USA.
EM dromano@stanford.edu
FU National Institute of Mental Health [R01MH050047, R01MH064708,
R01MH064580, MH061696, 5T32MH019908]; National Institute of Child Health
and Human Development [P30HD003110]; Canel Family Fund
FX Contract grant sponsor: National Institute of Mental Health; Contract
grant numbers: R01MH050047, R01MH064708, R01MH064580; MH061696,
5T32MH019908; Contract grant sponsor: National Institute of Child Health
and Human Development; Contract grant number: P30HD003110; Contract
grant sponsor: the Canel Family Fund.
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NR 26
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1065-9471
EI 1097-0193
J9 HUM BRAIN MAPP
JI Hum. Brain Mapp.
PD SEP
PY 2014
VL 35
IS 9
BP 4904
EP 4915
DI 10.1002/hbm.22521
PG 12
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AM0VZ
UT WOS:000339567000048
PM 24737721
ER
PT J
AU de Rosnay, M
Fink, E
Begeer, S
Slaughter, V
Peterson, C
AF de Rosnay, Marc
Fink, Elian
Begeer, Sander
Slaughter, Virginia
Peterson, Candida
TI Talking theory of mind talk: young school-aged children's everyday
conversation and understanding of mind and emotion
SO JOURNAL OF CHILD LANGUAGE
LA English
DT Article
ID FALSE-BELIEF; INDIVIDUAL-DIFFERENCES; AUTISM-SPECTRUM; LANGUAGE;
BEHAVIOR; DEAFNESS; METAANALYSIS; TEMPERAMENT; SKILLS
AB Links between young children's everyday use of mindful conversational skills and their success on laboratory tests of theory of mind understanding (ToM) were evaluated. Using published scales, teachers rated the conversational behavior and shyness of 129 children aged 60 to 101 months (M=78.8 months) who were in their first years of primary school. The children also took batteries of first-and second-order false-belief tests along with tests of emotion understanding and general language ability. Correlational and regression analyses showed that performance on false-belief tests of ToM significantly predicted children's competence at reading others' minds in their everyday conversational interactions. Furthermore, these links transcended individual differences in language ability, shy personality, emotion understanding, and age. These findings augment and extend a growing body of evidence linking performance on laboratory ToM tests to socially competent real-world behavior.
C1 [de Rosnay, Marc; Fink, Elian; Begeer, Sander] Univ Sydney, Sydney, NSW 2006, Australia.
[Begeer, Sander] Vrije Univ Amsterdam, Amsterdam, Netherlands.
[Slaughter, Virginia; Peterson, Candida] Univ Queensland, Brisbane, Qld 4072, Australia.
RP Peterson, C (reprint author), Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
EM candi@psy.uq.edu.au
CR Astington J. W., 2005, WHY LANGUAGE MATTERS
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NR 37
TC 2
Z9 2
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0305-0009
EI 1469-7602
J9 J CHILD LANG
JI J. Child Lang.
PD SEP
PY 2014
VL 41
IS 5
BP 1179
EP 1193
DI 10.1017/S0305000913000433
PG 15
WC Psychology, Developmental; Linguistics; Psychology, Experimental
SC Psychology; Linguistics
GA AM0PR
UT WOS:000339548200009
PM 24229511
ER
PT J
AU Hensley, MK
El-Baz, AS
Sokhadze, EM
Sears, LL
Casanova, MF
AF Hensley, Marie K.
El-Baz, Ayman S.
Sokhadze, Estate (Tato) M.
Sears, Lonnie L.
Casanova, Manuel F.
TI EFFECTS OF 18 SESSION TMS THERAPY ON GAMMA COHERENCE IN AUTISM
SO PSYCHOPHYSIOLOGY
LA English
DT Meeting Abstract
CT 54h Annual Meeting of the Society-for-Psychophysiological-Research
CY SEP 10-14, 2014
CL Atlanta, GA
SP Soc Psychophysiol Res
DE autism; transcranial magnetic stimulation; gamma coherence
C1 [Hensley, Marie K.; El-Baz, Ayman S.; Sokhadze, Estate (Tato) M.; Sears, Lonnie L.; Casanova, Manuel F.] Univ Louisville, Louisville, KY 40292 USA.
NR 0
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0048-5772
EI 1469-8986
J9 PSYCHOPHYSIOLOGY
JI Psychophysiology
PD SEP
PY 2014
VL 51
SU 1
SI SI
MA 1-16
BP S16
EP S16
PG 1
WC Psychology, Biological; Neurosciences; Physiology; Psychology;
Psychology, Experimental
SC Psychology; Neurosciences & Neurology; Physiology
GA AL9RX
UT WOS:000339479500088
ER
PT J
AU Sokhadze, EM
Sears, LL
Sokhadze, GE
Edelson, SM
Tasman, A
Casanova, MF
AF Sokhadze, Estate (Tato) M.
Sears, Lonnie L.
Sokhadze, Guela E.
Edelson, Stephen M.
Tasman, Allan
Casanova, Manuel F.
TI MOTOR RESPONSE PREPARATION DEFICITS IN A CUED SPATIAL ATTENTION TASK IN
AUTISM
SO PSYCHOPHYSIOLOGY
LA English
DT Meeting Abstract
CT 54h Annual Meeting of the Society-for-Psychophysiological-Research
CY SEP 10-14, 2014
CL Atlanta, GA
SP Soc Psychophysiol Res
DE LRP; spatial attention task; autism
C1 [Sokhadze, Estate (Tato) M.; Sears, Lonnie L.; Sokhadze, Guela E.; Tasman, Allan; Casanova, Manuel F.] Univ Louisville, Louisville, KY 40292 USA.
[Edelson, Stephen M.] Autism Res Inst, San Diego, CA USA.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0048-5772
EI 1469-8986
J9 PSYCHOPHYSIOLOGY
JI Psychophysiology
PD SEP
PY 2014
VL 51
SU 1
SI SI
MA 1-15
BP S16
EP S16
PG 1
WC Psychology, Biological; Neurosciences; Physiology; Psychology;
Psychology, Experimental
SC Psychology; Neurosciences & Neurology; Physiology
GA AL9RX
UT WOS:000339479500087
ER
PT J
AU Pedersen, L
Parlar, S
Kvist, K
Whiteley, P
Shattock, P
AF Pedersen, Lennart
Parlar, Sarah
Kvist, Kajsa
Whiteley, Paul
Shattock, Paul
TI Data mining the ScanBrit study of a gluten- and casein-free dietary
intervention for children with autism spectrum disorders: Behavioural
and psychometric measures of dietary response
SO NUTRITIONAL NEUROSCIENCE
LA English
DT Article
DE Autism spectrum disorder; Dietary intervention; Gluten; Casein
ID URINARY INDOLYL-3-ACRYLOYLGLYCINE; RISK; MUTATIONS
AB We previously reported results based on the examination of a gluten- and casein-free diet as an intervention for children diagnosed with an autism spectrum disorder as part of the ScanBrit collaboration. Analysis based on grouped results indicated several significant differences between dietary and non-dietary participants across various core and peripheral areas of functioning. Results also indicated some disparity in individual responses to dietary modification potentially indicative of responder and non-responder differences. Further examination of the behavioural and psychometric data garnered from participants was undertaken, with a view to determining potential factors pertinent to response to dietary intervention. Participants with clinically significant scores indicative of inattention and hyperactivity behaviours and who had a significant positive changes to said scores were defined as responders to the dietary intervention. Analyses indicated several factors to be potentially pertinent to a positive response to dietary intervention in terms of symptom presentation. Chronological age was found to be the strongest predictor of response, where those participants aged between 7 and 9 years seemed to derive most benefit from dietary intervention. Further analysis based on the criteria for original study inclusion on the presence of the urine compound, trans-indolyl-3-acryloylglycine may also merit further investigation. These preliminary observations on potential best responder characteristics to a gluten-and casein-free diet for children with autism require independent replication.
C1 [Pedersen, Lennart; Parlar, Sarah] Ctr Autisme, DK-2730 Herlev, Denmark.
[Kvist, Kajsa] PFA Pens, DK-2100 Copenhagen, Denmark.
[Whiteley, Paul; Shattock, Paul] ESPA Res, BIC, Unit 133i, Sunderland SR5 2TA, England.
RP Pedersen, L (reprint author), Ctr Autisme, Herlev Hovedgade 199, DK-2730 Herlev, Denmark.
EM lpe@centerforautisme.dk
FU Center for Autisme; Nils O. Seim Family Fund for Medical Research; Eric
Birger Christensen Fond; Norwegian Protein Intolerance Association;
Robert Luff Foundation; Glashofs Legat
FX The authors thank all the parents who gave their time and permission for
their children to take part in this difficult study. We owe a huge debt
of thanks to Maureen Pilvang and Jonna Deibjerg who provided nutritional
advice and support to parents and Charlotte Mathiesen who provided
administrative support. The study was supported by grants from the
Center for Autisme, the Nils O. Seim Family Fund for Medical Research,
the Eric Birger Christensen Fond, the Norwegian Protein Intolerance
Association, The Robert Luff Foundation and Glashofs Legat.
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NR 26
TC 1
Z9 1
PU MANEY PUBLISHING
PI LEEDS
PA STE 1C, JOSEPHS WELL, HANOVER WALK, LEEDS LS3 1AB, W YORKS, ENGLAND
SN 1028-415X
EI 1476-8305
J9 NUTR NEUROSCI
JI Nutr. Neurosci.
PD SEP
PY 2014
VL 17
IS 5
BP 207
EP 213
DI 10.1179/1476830513Y.0000000082
PG 7
WC Neurosciences; Nutrition & Dietetics
SC Neurosciences & Neurology; Nutrition & Dietetics
GA AL1DI
UT WOS:000338865600002
PM 24075141
ER
PT J
AU Bernard, PB
Castano, AM
Bayer, KU
Benke, TA
AF Bernard, Paul B.
Castano, Anna M.
Bayer, K. Ulrich
Benke, Tim A.
TI Necessary, but not sufficient: Insights into the mechanisms of mGluR
mediated long-term depression from a rat model of early life seizures
SO NEUROPHARMACOLOGY
LA English
DT Article
DE Early life seizure; Long-term depression; Metabotropic glutamate
receptor; CaMKII; Voltage-gated calcium channels; Autism
ID FRAGILE-X-SYNDROME; METABOTROPIC GLUTAMATE RECEPTORS; MENTAL-RETARDATION
PROTEIN; SIGNALING PATHWAY; MOUSE MODEL; SYNAPTIC PLASTICITY; CAMKII
AUTONOMY; KINASE; PHOSPHORYLATION; POTENTIATION
AB Using the rat model of early life seizures (ELS), which has exaggerated mGluR mediated long-term depression of synaptic strength (mGluR-LTD) in adulthood, we probed the signaling cascades underlying mGluR-LTD induction. Several inhibitors completely blocked mGluR-LTD in control but not in ELS rats: the proteasome, the mammalian target of rapamycin (mTOR), S6 kinase (S6K), or L-type voltage-gated calcium channels (L-type VGCC). Inhibition of the Ca2+/calmodulin-dependent protein kinase II (CaMKII) resulted in a near complete block of mGluR-LTD in control rats and a slight reduction of mGluR-LTD in ELS rats. "Autonomous" CaMKII was found to be upregulated in ELS rats, while elevated S6K activity, which is stimulated by mTOR, was described previously. Thus, modulation of each of these factors was necessary for mGluR-LTD induction in control rats, but even their combined, permanent activation in the ELS rats was not sufficient to individually support mGluR-LTD induction following ELS. This implies that while these factors may act sequentially in controls to mediate mGluR-LTD, this is no longer the case after ELS. In contrast, activated ERK was found to be significantly down-regulated in ELS rats. Inhibition of MEK/ERK activation in control rats elevated mGluR-LTD to the exaggerated levels seen in ELS rats. Together, these results elucidate both the mechanisms that persistently enhance mGluR-LTD after ELS and the mechanisms underlying normal mGluR-LTD by providing evidence for multiple, convergent pathways that mediate mGluR-LTD induction. With our prior work, this ties these signaling cascades to the ELS behavioral phenotype that includes abnormal working memory, fear conditioning and socialization. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Bernard, Paul B.; Castano, Anna M.; Benke, Tim A.] Univ Colorado, Sch Med, Dept Pediat, Denver, CO 80045 USA.
[Bayer, K. Ulrich; Benke, Tim A.] Univ Colorado, Sch Med, Neurosci Grad Program, Denver, CO 80045 USA.
[Benke, Tim A.] Univ Colorado, Sch Med, Dept Neurol, Denver, CO 80045 USA.
[Bayer, K. Ulrich; Benke, Tim A.] Univ Colorado, Sch Med, Dept Pharmacol, Denver, CO 80045 USA.
[Benke, Tim A.] Univ Colorado, Sch Med, Dept Otolaiyngol, Denver, CO 80045 USA.
RP Benke, TA (reprint author), Univ Colorado, Sch Med, Dept Pediat, 12800 E 19th,MS8102, Denver, CO 80045 USA.
EM tim.benke@ucdenver.edu
FU Children's Hospital Colorado Research Institute; Epilepsy Foundation;
National Institutes of Health [R01 NS076577, R01 NS081248]
FX Special thanks to Drs. Heather O'Leary, Mark Dell'Acqua, Steve Coultrap
and other members of the Benke, Bayer and Dell'Acqua labs and the
Neuroscience Program Machine Shop Core. Funding provided by the
Children's Hospital Colorado Research Institute, Epilepsy Foundation,
and National Institutes of Health grants R01 NS076577 (to T.B.) and R01
NS081248 (to K.U.B.). The content is solely the responsibility of the
authors and does not necessarily represent the official views of NINDS
or NIH.
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NR 56
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3908
EI 1873-7064
J9 NEUROPHARMACOLOGY
JI Neuropharmacology
PD SEP
PY 2014
VL 84
SI SI
BP 1
EP 12
DI 10.1016/j.neuropharm.2014.04.011
PG 12
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA AK7OC
UT WOS:000338616600001
PM 24780380
ER
PT J
AU Lin, CY
Chang, YM
AF Lin, Chien-Yu
Chang, Yu-Ming
TI Increase in physical activities in kindergarten children with cerebral
palsy by employing MaKey-MaKey-based task systems
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Interaction; Cerebral palsy; MaKey MaKey; Conductive materials;
Single-case design
ID DESIGNATED OCCUPATIONAL ACTIVITIES; ENVIRONMENTAL STIMULATION; ASSISTING
PEOPLE; DISABILITIES; REHABILITATION; EXERCISE; LIFE; AUTISM; ADULTS
AB In this study, we employed Flash- and Scratch-based multimedia by using a MaKey-MaKey-based task system to increase the motivation level of children with cerebral palsy to perform physical activities. MaKey MaKey is a circuit board that converts physical touch to a digital signal, which is interpreted by a computer as a keyboard message. In this study, we used conductive materials to control this interaction. This study followed single-case design using ABAB models in which A indicated the baseline and B indicated the intervention. The experiment period comprised 1 month and a half. The experimental results demonstrated that in the case of two kindergarten children with cerebral palsy, their scores were considerably increased during the intervention phrases. The developmental applications of the results are also discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Lin, Chien-Yu] Natl Univ Tainan, Dept Special Educ, Tainan 700, Taiwan.
[Chang, Yu-Ming] Southern Taiwan Univ Sci & Technol, Coll Digital Design, Tainan 710, Taiwan.
RP Lin, CY (reprint author), Natl Univ Tainan, Dept Special Educ, 33,Sect 2,Shu Lin St, Tainan 700, Taiwan.
EM linchienyu@mail.nutn.edu.tw
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NR 36
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD SEP
PY 2014
VL 35
IS 9
BP 1963
EP 1969
DI 10.1016/j.ridd.2014.04.028
PG 7
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AK1MM
UT WOS:000338179200005
PM 24864049
ER
PT J
AU Matson, JL
Williams, LW
AF Matson, Johnny L.
Williams, Lindsey W.
TI Depression and mood disorders among persons with Autism Spectrum
Disorders
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Review
DE Autism; Depression; Comorbid; Psychopathology
ID PERVASIVE DEVELOPMENTAL DISORDER; INTELLECTUALLY DISABLED ADULTS; II
DASH-II; BIPOLAR DISORDER; YOUNG-ADULTS; CHALLENGING BEHAVIORS;
DIAGNOSTIC-ASSESSMENT; SOCIAL-SKILLS; PDD-NOS; CHILDREN
AB In the past decade, Autism Spectrum Disorders (ASD) have both risen in prevalence and become a critical area of research in the field of developmental disabilities. As the body of knowledge about ASD has grown, the overlap of ASD with other problems has also become a rapidly emerging area of study. One of the most studied of these topics is comorbid psychopathology, with depression and mood disorders emerging as one of the more troublesome of these co-occurring conditions. A great deal of research is still needed to determine how best to assess and treat these disorders within the context of ASD. This manuscript reviews current trends and topics relative to this area of study. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Matson, Johnny L.; Williams, Lindsey W.] Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
RP Williams, LW (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM johnmatson@aol.com; lindseywilliswilliams@gmail.com
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NR 58
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD SEP
PY 2014
VL 35
IS 9
BP 2003
EP 2007
DI 10.1016/j.ridd.2014.04.020
PG 5
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AK1MM
UT WOS:000338179200010
PM 24864053
ER
PT J
AU Visser, EM
Berger, HJC
Prins, JB
Lantman-De Valk, HMJV
Teunisse, JP
AF Visser, E. M.
Berger, H. J. C.
Prins, J. B.
Lantman-De Valk, H. M. J. Van Schrojenstein
Teunisse, J. P.
TI Shifting impairment and aggression in intellectual disability and Autism
Spectrum Disorder
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Cognitive shifting; Aggression; Autism; Intellectual disability
ID BEHAVIOR RATING INVENTORY; CARD SORTING TEST; CHALLENGING BEHAVIOR;
EXECUTIVE FUNCTION; PHYSICAL AGGRESSION; NEUROPSYCHOLOGICAL TESTS; TOTAL
POPULATION; RISK MARKERS; YOUNG-ADULTS; CHILDREN
AB Aggressive behaviour is a major problem in individuals with an intellectual disability (ID)as well as in individuals with an Autism Spectrum Disorder (ASD). There are indications that suggest a link between cognitive shifting and aggression. In this study, reports of aggressive incidents of adolescents and young adults with different clinical diagnoses (ID, ID + ASD, ASD) were collected during 1 year, using the Staff Observation Aggression Scale-Revised. Whether they were diagnosed with ID, ASD or both; individuals who displayed aggression were found to face more cognitive shifting difficulties than non-aggressive individuals, while no significant differences were found on severity of ASD symptoms. Study results support the assumption that a cognition-based model for aggression may be more adequate than a diagnose-based model. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Visser, E. M.; Berger, H. J. C.; Prins, J. B.; Teunisse, J. P.] Radboud Univ Nijmegen, Med Ctr, Dept Med Psychol, NL-6500 HB Nijmegen, Netherlands.
[Lantman-De Valk, H. M. J. Van Schrojenstein] Radboud Univ Nijmegen, Med Ctr, Dept Primary & Community Hlth Care, NL-6500 HB Nijmegen, Netherlands.
[Teunisse, J. P.] Dr Leo Kannerhuis, Ctr Autism, Dept Res & Dev, NL-6865 ZH Doorwerth, Netherlands.
[Teunisse, J. P.] HAN Univ Appl Sci, Res Grp Autism Lifespan, NL-6503 GL Nijmegen, Netherlands.
RP Teunisse, JP (reprint author), Radboud Univ Nijmegen, Med Ctr, Dept Med Psychol, POB 9101, NL-6500 HB Nijmegen, Netherlands.
EM jp.teunisse@leokannerhuis.nl
RI Schrojenstein Lantman-de Valk, H.M.J./H-8087-2014
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Woodcock KA, 2011, J INTELL DISABIL RES, V55, P152, DOI 10.1111/j.1365-2788.2010.01368.x
World Medical Association General Assembly, 2008, WMA DECL HELS ETH PR
Yerys BE, 2009, AUTISM, V13, P523, DOI 10.1177/1362361309335716
NR 80
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD SEP
PY 2014
VL 35
IS 9
BP 2137
EP 2147
DI 10.1016/j.ridd.2014.04.021
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AK1MM
UT WOS:000338179200023
PM 24881008
ER
PT J
AU Lancioni, GE
Singh, NN
O'Reilly, MF
Sigafoos, J
Alberti, G
Perilli, V
Oliva, D
Buono, S
AF Lancioni, Giulio E.
Singh, Nirbhay N.
O'Reilly, Mark F.
Sigafoos, Jeff
Alberti, Gloria
Perilli, Viviana
Oliva, Doretta
Buono, Serafino
TI Microswitch-aided programs to support physical exercise or adequate
ambulation in persons with multiple disabilities
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Microswitch-aided programs; Head movements; Arms movements; Ambulation;
Toe walking; Multiple disabilities
ID PROFOUND INTELLECTUAL DISABILITIES; AUTISM SPECTRUM DISORDERS;
IDIOPATHIC TOE WALKING; DEVELOPMENTAL-DISABILITIES; SELF-DETERMINATION;
SOCIAL VALIDATION; ENVIRONMENTAL STIMULATION; ASSISTING PEOPLE;
CHILDREN; ADULTS
AB Three microswitch-aided programs were assessed in three single-case studies to enhance physical exercise or ambulation in participants with multiple disabilities. Study I was aimed at helping a woman who tended to have the head bending forward and the arms down to exercise a combination of appropriate head and arms movements. Study II was aimed at promoting ambulation continuity with a man who tended to have ambulation breaks. Study III was aimed at promoting ambulation with appropriate foot position in a girl who usually showed toe walking. The experimental designs of the studies consisted of a multiple probe across responses (Study I), an ABAB sequence (Study II), and an ABABB(1) sequence (Study III). The last phase of each study was followed by a post-intervention check. The microswitches monitored the target responses selected for the participants and triggered a computer system to provide preferred stimuli contingent on those responses during the intervention phases of the studies. Data showed that the programs were effective with each of the participants who learned to exercise head and arms movements, increased ambulation continuity, and acquired high levels of appropriate foot position during ambulation, respectively. The positive performance levels were retained during the post-intervention checks. The discussion focused on (a) the potential of technology-aided programs for persons with multiple disabilities and (b) the need of replication studies to extend the evidence available in the area. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Lancioni, Giulio E.] Univ Bari, I-70100 Bari, Italy.
[Singh, Nirbhay N.] Georgia Regents Univ, Med Coll Georgia, Augusta, GA USA.
[O'Reilly, Mark F.] Univ Texas Austin, Austin, TX 78712 USA.
[Sigafoos, Jeff] Victoria Univ Wellington, Wellington, New Zealand.
[Alberti, Gloria; Perilli, Viviana; Oliva, Doretta] Lega F DOro Res Ctr, Osimo, Italy.
[Alberti, Gloria; Perilli, Viviana; Oliva, Doretta] Lega F DOro Res Ctr, Lesmo, Italy.
[Buono, Serafino] IRCCS Oasi Troina, Troina Enna, Italy.
RP Lancioni, GE (reprint author), Univ Bari, Dept Neurosci & Sense Organs, Via Quintino Sella 268, I-70100 Bari, Italy.
EM giulio.lancioni@uniba.it
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NR 66
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD SEP
PY 2014
VL 35
IS 9
BP 2190
EP 2198
DI 10.1016/j.ridd.2014.05.015
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AK1MM
UT WOS:000338179200028
PM 24915648
ER
PT J
AU Cantwell, J
Muldoon, OT
Gallagher, S
AF Cantwell, Joanne
Muldoon, Orla T.
Gallagher, Stephen
TI Social support and mastery influence the association between stress and
poor physical health in parents caring for children with developmental
disabilities
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Parents; Developmental disability; Physical health; Mastery; Social
support; Stress
ID AUTISM SPECTRUM DISORDER; BEHAVIOR PROBLEMS; INTELLECTUAL DISABILITIES;
YOUNG-ADULTS; DIFFICULTIES QUESTIONNAIRE; SYNDROME SPECIFICITY;
EXPRESSED EMOTION; ANTIBODY-RESPONSE; PERCEIVED STRESS; RECEIVED SUPPORT
AB To date, much of the research linking the stress of caring for children with developmental disabilities (e.g. Autism & Down syndrome) with parental health outcomes have tended to concentrate on mental health with less attention paid to the physical health consequences. Thus, this study sought to explore the psychosocial predictors of poor physical health in these caring parents. One hundred and sixty-seven parents (109 caregivers and 58 control parents) completed measures of stress, child problem behaviours, social support, mastery and physical health. Parents of children with developmental disabilities had poorer physical health compared to control parents. Stress and mastery, but not social support and problem behaviours, were significant predictors of poor physical health within caring parents for children with developmental disabilities. However, the association between mastery and physical health was mediated by perceived stress such that those parents who were higher on mastery reported less stress and better physical health; furthermore, the association between stress and physical health was moderated by social support; those parents high on social support and low in stress had better physical health. These results indicate that the paths between psychosocial factors and poor physical health in the caring parents are working synergistically rather than in isolation. They also underscore the importance of providing multi-component interventions that offer a variety of psychosocial resources to meet the precise needs of the parents. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Cantwell, Joanne; Muldoon, Orla T.; Gallagher, Stephen] Univ Limerick, Dept Psychol, Limerick, Ireland.
[Cantwell, Joanne; Muldoon, Orla T.; Gallagher, Stephen] Univ Limerick, Ctr Social Issues Res, Limerick, Ireland.
RP Cantwell, J (reprint author), Univ Limerick, Dept Psychol, Limerick, Ireland.
EM Joanne.Cantwell@ul.ie
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NR 64
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD SEP
PY 2014
VL 35
IS 9
BP 2215
EP 2223
DI 10.1016/j.ridd.2014.05.012
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AK1MM
UT WOS:000338179200031
PM 24927515
ER
PT J
AU Kim, MS
Blair, KSC
Lim, KW
AF Kim, Mi-seon
Blair, Kwang-Sun Cho
Lim, Kyoung-won
TI Using tablet assisted Social Stories (TM) to improve classroom behavior
for adolescents with intellectual disabilities
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Tablet; Multimedia; Social Stories (TM); Intellectual disabilities;
Problem behavior; Academic engagement
ID AUTISM SPECTRUM DISORDERS; SPEECH-GENERATING DEVICE; 2 STUDENTS;
CHILDREN; SKILLS; IPOD; IPAD; INDIVIDUALS; INSTRUCTION; ENGAGEMENT
AB The present study examined the use of tablet assisted Social Stories (TM) intervention for three high school students with severe intellectual disabilities whose problem behavior interfered with their learning and caused classroom disruptions. A multiple probe design across participants was employed to test the impact of the tablet assisted SS on the participants' target behaviors. During intervention, the participants read the Social Stories that were created on Prezi and accessed via Quick Response (QR) codes using a Galaxy Tap smart tablet before participating in an academic period. Data indicated that the SS intervention decreased disruptive behavior and increased academic engagement in all three participants. All three demonstrated generalization of behaviors to a nontargeted academic period and maintenance of improved behaviors at the 2-week follow-up. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Kim, Mi-seon; Lim, Kyoung-won] Kongju Natl Univ, Gongju, South Korea.
[Blair, Kwang-Sun Cho] Univ S Florida, Tampa, FL 33612 USA.
RP Blair, KSC (reprint author), Univ S Florida, 13301 Bruce B Downs Blvd,MHC 2336, Tampa, FL 33612 USA.
EM kwangsun@usf.edu
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NR 75
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD SEP
PY 2014
VL 35
IS 9
BP 2241
EP 2251
DI 10.1016/j.ridd.2014.05.011
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AK1MM
UT WOS:000338179200034
PM 24927518
ER
PT J
AU Konst, MJ
Matson, JL
Goldin, R
Rieske, R
AF Konst, Matthew J.
Matson, Johnny L.
Goldin, Rachel
Rieske, Robert
TI How does ASD symptomology correlate with ADHD presentations?
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism spectrum disorders; Tantrum behavior; Autism Spectrum Disorders -
Comorbidity for Children (ASD-CC); Comorbidity
ID AUTISM SPECTRUM DISORDERS; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
PERVASIVE DEVELOPMENTAL DISORDER; DEFICIT HYPERACTIVITY DISORDER;
DSM-IV-TR; SEVERE RETARDATION MESSIER; SOCIAL-SKILLS;
DIAGNOSTIC-CRITERIA; PSYCHIATRIC-DISORDERS; MENTAL-RETARDATION
AB Elevated rates of attention deficit/hyperactivity disorder (ADHD) symptoms have been documented in the autism spectrum disorder (ASD) population. However, the recent restructuring of the ASD diagnostic category and its respective symptom structure has elicited concern about how these changes may impact prevalence rates, the deliverance of services, and the rates of comorbid psychopathology. At present, few researchers have investigated the prevalence rates of specific ADHD presentations within ASD populations. As we seek to increase our understanding of ADHD symptom manifestation in ASD populations it is important to establish base rates of attention and hyperactive symptoms. The current manuscript sought to investigate the prevalence of inattention and impulsive symptoms in 1722 infants and toddlers. Individuals were separated into three diagnostic groups for analyses, a DSM-5 ASD group, an atypically developing group, and a DSM-IV-TR ASD group. Initial analysis extended previous research by demonstrating significantly elevated rates of inattention/impulsive symptoms in toddlers meeting DSM-5 criteria for ASD when compared to the DSM-IV-TR ASD and atypically developing groups. Additional analysis demonstrated that ASD symptom severity was positively correlated with inattention/impulsive symptoms regardless of primary diagnosis. Lastly, analyses examined the exhibition of inattention and impulsive symptoms separately within diagnostic groups. Results suggest that the expression of impulsive and inattentive symptoms did not significantly differ within diagnostic groups. Published by Elsevier Ltd.
C1 [Konst, Matthew J.; Matson, Johnny L.; Goldin, Rachel; Rieske, Robert] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Konst, MJ (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM mkonst1@tigers.lsu.edu
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NR 65
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD SEP
PY 2014
VL 35
IS 9
BP 2252
EP 2259
DI 10.1016/j.ridd.2014.05.017
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AK1MM
UT WOS:000338179200035
PM 24929307
ER
PT J
AU El-Ansary, A
Al-Ayadhi, L
AF El-Ansary, Afaf
Al-Ayadhi, Laila
TI Relative abundance of short chain and polyunsaturated fatty acids in
propionic acid-induced autistic features in rat pups as potential
markers in autism
SO LIPIDS IN HEALTH AND DISEASE
LA English
DT Article
DE Propionic acid; Rodent model; Autism; Short chain fatty acids;
Polyunsaturated fatty acids; Relative values
ID NF-KAPPA-B; DOCOSAHEXAENOIC ACID; ARACHIDONIC-ACID; SPECTRUM DISORDERS;
OXIDATIVE STRESS; SODIUM-BUTYRATE; NA+ CHANNELS; GLIOMA-CELLS; BRAIN;
METABOLISM
AB Background: Fatty acids are essential dietary nutrients, and one of their important roles is providing polyunsaturated fatty acids (PUFAs) for the growth and function of nervous tissue. Short chain fatty acids (SCFAs) are a group of compounds derived from the host microbiome that were recently linked to effects on the gut, the brain, and behavior. They are therefore linked to neurodevelopmental disorders such as autism. Reduced levels of PUFAs are associated with impairments in cognitive and behavioral performance, which are particularly important during brain development. Recent studies suggest that omega -3 fatty acids such as eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) are involved in neurogenesis, neurotransmission, and protection from oxidative stress. Omega-3 PUFAs mediate some of these effects by antagonizing Omega-6 PUFA (arachidonic acid, AA)-induced proinflammatory prostaglandin E-2 (PGE(2)) formation.
Methods: In this work, the absolute and relative concentrations of propionic (PPA), butyric and acetic acids, as well as PUFAs and their precursors (alpha-Linolenic and linoleic), were measured in the brain tissue of PPA-neurointoxicated rat pups (receiving 250 mg PPA/Kg body weight for 3 consecutive days) as a rodent model with persistent autistic features compared with healthy controls.
Results: The data revealed remarkably lower levels of omega6/omega3, alpha-Linolenic/Linoleic, alpha-Linolenic/EPA, alpha-Linolenic/DHA, EPA/DHA, and AA/Linoleic acid ratios in PPA-intoxicated rats. The role of these impaired ratios is discussed in relation to the activity of desaturases and elongases, which are the two enzymatic groups involved in the synthesis of PUFAs from their precursors. The relationship between the abnormal relative concentrations of the studied fatty acids and oxidative stress, neurotransmission, and neuroinflammation is also discussed in detail.
Conclusions: This study demonstrates that fatty acid ratios are useful for understanding the mechanism of PPA neurotoxicity in a rodent model of autism. Therefore, it is possible to use these ratios for predictions in patients with this disorder.
C1 [El-Ansary, Afaf] King Saud Univ, Coll Sci, Dept Biochem, Riyadh 11495, Saudi Arabia.
[El-Ansary, Afaf; Al-Ayadhi, Laila] Autism Res & Treatment Ctr, Riyadh, Saudi Arabia.
[El-Ansary, Afaf; Al-Ayadhi, Laila] King Saud Univ, Shaik AL Amodi Autism Res Chair, Riyadh 11495, Saudi Arabia.
[Al-Ayadhi, Laila] King Saud Univ, Fac Med, Dept Physiol, Riyadh 11495, Saudi Arabia.
[El-Ansary, Afaf] Natl Res Ctr, Dept Med Chem, Cairo, Egypt.
RP El-Ansary, A (reprint author), King Saud Univ, Coll Sci, Dept Biochem, POB 22452, Riyadh 11495, Saudi Arabia.
EM elansary@ksu.edu.sa
FU Research Center of the Center for Female Scientific and Medical Colleges
in King Saud University
FX This research project was supported by a grant from the Research Center
of the Center for Female Scientific and Medical Colleges in King Saud
University.
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NR 62
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1476-511X
J9 LIPIDS HEALTH DIS
JI Lipids Health Dis.
PD AUG 31
PY 2014
VL 13
AR 140
DI 10.1186/1476-511X-13-140
PG 10
WC Biochemistry & Molecular Biology; Nutrition & Dietetics
SC Biochemistry & Molecular Biology; Nutrition & Dietetics
GA AP2HH
UT WOS:000341892800001
PM 25175350
ER
PT J
AU Gerlai, R
AF Gerlai, Robert
TI Social behavior of zebrafish: From synthetic images to biological
mechanisms of shoaling
SO JOURNAL OF NEUROSCIENCE METHODS
LA English
DT Article
DE Ontogenesis and mechanisms of shoaling; Social behavior; Zebrafish;
Alcoholism; Fetal alcohol spectrum disorder
ID AUTISM SPECTRUM DISORDERS; DANIO-RERIO; SEROTONINERGIC SYSTEMS; FISH;
EXPOSURE; EXPRESSION; BRAIN; MODEL; NEUROCHEMISTRY; QUANTIFICATION
AB The zebrafish strikes a good balance between system complexity and practical simplicity and as a result it is becoming increasingly frequently utilized in biomedical research as a translational tool. Numerous human brain disorders are associated with abnormal social behavior and the zebrafish has been suggested for modeling such disorders. To start this line of research, however, one may need to first thoroughly examine the laboratory organism, zebrafish, and its features, social behavior in this case. Proper methods need be developed to induce and quantify social behavior. These paradigms maybe able to open a window to the brain and facilitate the understanding of the biological mechanisms of social behavior and its abnormalities. This review is based on an oral paper presented at the last Measuring Behavior Conference, and as such it is mainly focused on research conducted in my own laboratory. Tracing the temporal progression of our own work, it discusses questions including what shoaling is, how it can be induced and measured and how it can be utilized in the modeling of certain human brain disorders, for example, alcohol induced abnormalities. (C) 2014 Elsevier B.V. All rights reserved.
C1 Univ Toronto, Dept Psychol, Mississauga, ON L5L 1C6, Canada.
RP Gerlai, R (reprint author), Univ Toronto, Dept Psychol, 3359 Mississauga Rd North,Rm DV4023C, Mississauga, ON L5L 1C6, Canada.
EM robert_gerlai@yahoo.com
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NR 52
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-0270
EI 1872-678X
J9 J NEUROSCI METH
JI J. Neurosci. Methods
PD AUG 30
PY 2014
VL 234
SI SI
BP 59
EP 65
DI 10.1016/j.jneumeth.2014.04.028
PG 7
WC Biochemical Research Methods; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AO0GE
UT WOS:000340986300007
PM 24793400
ER
PT J
AU Seffer, D
Schwarting, RKW
Wohr, M
AF Seffer, Dominik
Schwarting, Rainer K. W.
Woehr, Markus
TI Pro-social ultrasonic communication in rats: Insights from playback
studies
SO JOURNAL OF NEUROSCIENCE METHODS
LA English
DT Article
DE Ultrasonic communication; Ultrasonic vocalizations; Social behavior;
Animal model; Autism; Schizophrenia
ID ANXIETY-RELATED BEHAVIOR; RATTUS-NORVEGICUS; SEXUAL-BEHAVIOR; FEMALE
RATS; STIMULUS CONFIGURATION; CATEGORICAL PERCEPTION; 50-KHZ
VOCALIZATIONS; JUVENILE RATS; MOUSE MODELS; ALARM CRIES
AB Rodent ultrasonic vocalizations (USV) serve as situation-dependent affective signals and convey important communicative functions. In the rat, three major USV types exist: (I) 40-kHz USV, which are emitted by pups during social isolation: (II) 22-kHz USV, which are produced by juvenile and adult rats in aversive situations, including social defeat: and (III) 50-kHz USV, which are uttered by juvenile and adult rats in appetitive situations, including rough-and-tumble play. Here, evidence for a communicative function of 50-kHz USV is reviewed, focusing on findings obtained in the recently developed 50-kHz USV radial maze playback paradigm. Up to now, the following five acoustic stimuli were tested in this paradigm: (A) natural 50-kHz USV, (B) natural 22-kHz USV, (C) artificial 50-kHz sine wave tones, (D) artificial time- and amplitude-matched white noise, and (E) background noise. All studies using the 50-kHz USV radial maze playback paradigm indicate that 50-kHz USV serve a pro-social affiliative function as social contact calls. While playback of the different kinds of acoustic stimuli used so far elicited distinct behavioral response patterns, 50-kHz USV consistently led to social approach behavior in the recipient, indicating that pro-social ultrasonic communication can be studied in a reliable and highly standardized manner by means of the 50-kHz USV radial maze playback paradigm. This appears to be particularly relevant for rodent models of neurodevelopmental disorders, as there is a tremendous need for reliable behavioral assays with face validity to social communication deficits seen in autism and schizophrenia in order to study underlying genetic and neurobiological alterations. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Seffer, Dominik; Schwarting, Rainer K. W.; Woehr, Markus] Univ Marburg, D-35032 Marburg, Germany.
RP Wohr, M (reprint author), Univ Marburg, Gutenbergstr 18, D-35032 Marburg, Germany.
EM markus.woehr@staff.uni-marburg.de
FU Deutsche Forschungsgemeinschaft [DFG WO 1732/1-1]
FX M.W. is supported by the Deutsche Forschungsgemeinschaft (DFG WO
1732/1-1).
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NR 73
TC 6
Z9 6
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-0270
EI 1872-678X
J9 J NEUROSCI METH
JI J. Neurosci. Methods
PD AUG 30
PY 2014
VL 234
SI SI
BP 73
EP 81
DI 10.1016/j.jneumeth.2014.01.023
PG 9
WC Biochemical Research Methods; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AO0GE
UT WOS:000340986300009
PM 24508146
ER
PT J
AU Sungur, AO
Vorckel, KJ
Schwarting, RKW
Wohr, M
AF Sungur, A. Oezge
Voerckel, Karl J.
Schwarting, Rainer K. W.
Woehr, Markus
TI Repetitive behaviors in the Shank1 knockout mouse model for autism
spectrum disorder: Developmental aspects and effects of social context
SO JOURNAL OF NEUROSCIENCE METHODS
LA English
DT Article
DE Animal model; Neurodevelopmental disorders; Postsynaptic density;
Repetitive behavior; Marble burying; Self-grooming
ID SCAFFOLDING PROTEIN SHANK3; FEMALE HOUSE MICE; ULTRASONIC VOCALIZATIONS;
PSYCHIATRIC-DISORDERS; SYNAPTIC-TRANSMISSION; SCENT-MARKING;
SEX-PHEROMONE; MUS-MUSCULUS; MUTANT MICE; MUTATIONS
AB Background: Autism spectrum disorder (ASD) is characterized by persistent deficits in social behavior and communication, together with restricted and repetitive patterns of behavior. Several ASD candidate genes have been identified, including the SHANK gene family with its three family members SHANK1, SHANK2, and SHANK3.
Methods: Typically, repetitive behavior in mouse models for ASD is assessed by measuring self-grooming behavior. The first aim of the current study was to assess repetitive behaviors in Shank1(-/-) null mutant, Shank1(+/-) heterozygous, and Shank1(+/+) wildtype littermate control mice by means of a comprehensive approach, including the assessment of self-grooming, digging behavior, and marble burying. The second aim was to establish a test paradigm that allows for assessing the effects of social context on the occurrence of repetitive behaviors in a genotype-dependent manner. To this aim, repetitive behaviors were repeatedly tested on three consecutive days in distinct social contexts, namely in presence or absence of social odors.
Results: Shank1(+/-) heterozygous and to a lesser extent Shank1(-/-) null mutant mice displayed slightly elevated levels of self-grooming behavior as adults, but not as juveniles, with genotype differences being most prominent in the social context. In contrast to elevated self-grooming behavior, marble burying was strongly reduced in adult Shank1(+/-) heterozygous and Shank1(-/-) null mutant mice across social contexts, as compared to adult Shank1(+/+) wildtype littermate controls.
Conclusion: The opposite effects of the Shank1 deletion on the two types of repetitive behaviors are in line with a number of studies on repetitive behaviors in other genetic Shank models. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Sungur, A. Oezge; Voerckel, Karl J.; Schwarting, Rainer K. W.; Woehr, Markus] Philipps Univ Marburg, D-35032 Marburg, Germany.
RP Wohr, M (reprint author), Philipps Univ Marburg, Gutenbergstr 18, D-35032 Marburg, Germany.
EM markus.woehr@staff.uni-marburg.de
FU German Research Foundation (Deutsche Forschungsgemeinschaft) [DFG WO
1732/1-1]
FX This work was supported by a grant by the German Research Foundation
(Deutsche Forschungsgemeinschaft) to M.W. (DFG WO 1732/1-1). The authors
wish to thank Jacqueline Crawley, University of California Davis School
of Medicine, and the Howard Hughes Medical Institute investigators
Albert Hung and Morgan Sheng for providing the Shank1 mouse line. The
authors also wish to thank Clara Krzikalla and Max Rollwage for their
help in data acquisition.
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Yang M, 2012, J NEUROSCI, V32, P6525, DOI 10.1523/JNEUROSCI.6107-11.2012
Yoo J, 2013, PHILOS T R SOC LON B, V369
NR 70
TC 3
Z9 3
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-0270
EI 1872-678X
J9 J NEUROSCI METH
JI J. Neurosci. Methods
PD AUG 30
PY 2014
VL 234
SI SI
BP 92
EP 100
DI 10.1016/j.jneumeth.2014.05.003
PG 9
WC Biochemical Research Methods; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AO0GE
UT WOS:000340986300011
PM 24820912
ER
PT J
AU Riedel, A
Maier, S
Ulbrich, M
Biscaldi, M
Ebert, D
Fangmeier, T
Perlov, E
van Elst, LT
AF Riedel, Andreas
Maier, Simon
Ulbrich, Melanie
Biscaldi, Monica
Ebert, Dieter
Fangmeier, Thomas
Perlov, Evgeniy
van Elst, Ludger Tebartz
TI No significant brain volume decreases or increases in adults with
high-functioning autism spectrum disorder and above average
intelligence: A voxel-based morphometric study
SO PSYCHIATRY RESEARCH-NEUROIMAGING
LA English
DT Article
DE Autism spectrum disorder (ASD); Asperger's syndrome; Voxel-based
morphometry (VBM); High IQ
ID ROSTRAL PREFRONTAL CORTEX; LIKELIHOOD ESTIMATION; DIAGNOSTIC INTERVIEW;
SEX-DIFFERENCES; METAANALYSIS; VERSION; MATTER; SCALE; MRI;
ABNORMALITIES
AB Autism spectrum disorder (ASD) is increasingly being recognized as an important issue in adult psychiatry and psychotherapy. High intelligence indicates overall good brain functioning and might thus present a particularly good opportunity to study possible cerebral correlates of core autistic features in terms of impaired social cognition, communication skills, the need for routines, and circumscribed interests. Anatomical MRI data sets for 30 highly intelligent patients with high-functioning autism and 30 pairwise-matched control subjects were acquired and analyzed with voxel-based morphometry. The gray matter volume of the pairwise-matched patients and the controls did not differ significantly. When correcting for total brain volume influences, the patients with ASD exhibited smaller left superior frontal volumes on a trend level. Heterogeneous volumetric findings in earlier studies might partly be explained by study samples biased by a high inclusion rate of secondary forms of ASD, which often go along with neuronal abnormalities. Including only patients with high IQ scores might have decreased the influence of secondary forms of ASD and might explain the absence of significant volumetric differences between the patients and the controls in this study. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Riedel, Andreas; Ulbrich, Melanie; Ebert, Dieter; Fangmeier, Thomas; Perlov, Evgeniy; van Elst, Ludger Tebartz] Univ Freiburg, Clin Psychiat & Psychotherapy, Sect Expt Neuropsychiat, D-79104 Freiburg, Germany.
[Riedel, Andreas; Ebert, Dieter; Fangmeier, Thomas; van Elst, Ludger Tebartz] Univ Freiburg, Clin Psychiat & Psychotherapy, Univ Zentrum Autismus Spektrum, D-79104 Freiburg, Germany.
[Maier, Simon; van Elst, Ludger Tebartz] Univ Med Ctr Freiburg, Freiburg Brain Imaging, D-79106 Freiburg, Germany.
[Maier, Simon] Univ Freiburg, Inst Biol 3, Fac Biol, D-79104 Freiburg, Germany.
[Biscaldi, Monica] Univ Freiburg, Dept Child & Adolescent Psychiat & Psychotherapy, D-79104 Freiburg, Germany.
RP Maier, S (reprint author), Univ Med Ctr Freiburg, Freiburg Brain Imaging, Breisacher Str 64, D-79106 Freiburg, Germany.
EM simon.maier@uniklinik-freiburg.de
FU Federal Ministry of Education and Research [BMBF 01GV0606]
FX We thank Christoph Kaller for providing help and codes for the pair-wise
matching procedure. Part of the study was supported by a grant from the
Federal Ministry of Education and Research to LTVE (BMBF 01GV0606 to
LTvE).
CR Aitken K.J., 2010, A Z GENETIC FACTORS
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NR 53
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0925-4927
EI 1872-7506
J9 PSYCHIAT RES-NEUROIM
JI Psychiatry Res. Neuroimaging
PD AUG 30
PY 2014
VL 223
IS 2
BP 67
EP 74
DI 10.1016/j.pscychresns.2014.05.013
PG 8
WC Clinical Neurology; Neuroimaging; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AM6ZK
UT WOS:000340014300003
PM 24953998
ER
PT J
AU Chantiluke, K
Christakou, A
Murphy, CM
Giampietro, V
Daly, EM
Ecker, C
Brammer, M
Murphy, DG
Rubia, K
AF Chantiluke, Kaylita
Christakou, Anastasia
Murphy, Clodagh M.
Giampietro, Vincent
Daly, Eileen M.
Ecker, Christina
Brammer, Michael
Murphy, Declan G.
Rubia, Katya
CA MRC Aims Consortium
TI Disorder-specific functional abnormalities during temporal discounting
in youth with Attention Deficit Hyperactivity Disorder (ADHD), Autism
and comorbid ADHD and Autism
SO PSYCHIATRY RESEARCH-NEUROIMAGING
LA English
DT Article
DE ADHD; Autism; ASD; fMRI; Temporal discounting
ID DEFICIT/HYPERACTIVITY DISORDER; DECISION-MAKING; SPECTRUM DISORDERS;
BRAIN ACTIVATION; FMRI; CHILDREN; METAANALYSIS; POPULATION; BEHAVIOR;
CORTEX
AB Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) are often comorbid and share cognitive abnormalities in temporal foresight. A key question is whether shared cognitive phenotypes are based on common or different underlying pathophysiologies and whether comorbid patients have, additive neurofunctional deficits, resemble one of the disorders or have a different pathophysiology. We compared age- and IQ-matched boys with non-comorbid ADHD (18), non-comorbid ASD (15), comorbid ADHD and ASD (13) and healthy controls (18) using functional magnetic resonance imaging (fMRI) during a temporal discounting task. Only the ASD and the comorbid groups discounted delayed rewards more steeply. The fMRI data showed both shared and disorder-specific abnormalities in the three groups relative to controls in their brain-behaviour associations. The comorbid group showed both unique and more severe brain-discounting associations than controls and the non-comorbid patient groups in temporal discounting areas of ventromedial and lateral prefrontal cortex, ventral striatum and anterior cingulate, suggesting that comorbidity is neither an endophenocopy of the two pure disorders nor an additive pathology. (C) 2014 The Authors. Published by Elsevier Ireland Ltd.
C1 [Chantiluke, Kaylita; Murphy, Clodagh M.] Kings Coll London, Inst Psychiat, Dept Child & Adolescent Psychiat, London WC2R 2LS, England.
[Murphy, Clodagh M.; Daly, Eileen M.; Ecker, Christina; Murphy, Declan G.; Rubia, Katya] Kings Coll London, Inst Psychiat, Sackler Inst Translat Neurodev, London WC2R 2LS, England.
[Murphy, Clodagh M.; Daly, Eileen M.; Ecker, Christina; Murphy, Declan G.; Rubia, Katya] Kings Coll London, Inst Psychiat, Dept Forens & Neurodev Sci, London WC2R 2LS, England.
[Giampietro, Vincent; Brammer, Michael] Kings Coll London, Inst Psychiat, Dept Neuroimaging, London WC2R 2LS, England.
[Christakou, Anastasia] Univ Reading, Ctr Integrat Neurosci & Neurodynam, Reading, Berks, England.
[Christakou, Anastasia] Univ Reading, Sch Psychol & Clin Language Sci, Reading, Berks, England.
RP Rubia, K (reprint author), MRC Ctr Social Genet & Dev Psychiat SGDP, Dept Child Psychiat, Inst Psychiat, PO46,16 De Crespigny Pk, London SE5 8AF, England.
EM katya.rubia@kcl.ac.uk
RI Williams, Steve/D-6979-2011; Ecker, Christine/E-5194-2010; Bailey,
Anthony/J-2860-2014
OI Bailey, Anthony/0000-0003-4257-972X
FU Medical Research Council [MRC GO300155]; MRC UK Autism Imaging
Multicentre Study [G0400061]; MRC [G0300155]; Institute of Psychiatry,
King's College London
FX This study was supported by Grants from the Medical Research Council
(MRC GO300155) to Prof. Katya Rubia and the MRC UK Autism Imaging
Multicentre Study (G0400061) to Prof. Declan Murphy. Dr. Anastasia
Christakou was supported by a post-doctoral fellowship from MRC
G0300155. Kaylita Chantiluke was supported by a Ph.D. studentship from
the Institute of Psychiatry, King's College London.
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NR 53
TC 3
Z9 3
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0925-4927
EI 1872-7506
J9 PSYCHIAT RES-NEUROIM
JI Psychiatry Res. Neuroimaging
PD AUG 30
PY 2014
VL 223
IS 2
BP 113
EP 120
DI 10.1016/j.pscychresns.2014.04.006
PG 8
WC Clinical Neurology; Neuroimaging; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AM6ZK
UT WOS:000340014300008
PM 24929553
ER
PT J
AU Papadopoulos, N
McGinley, JL
Bradshaw, JL
Rinehart, NJ
AF Papadopoulos, Nicole
McGinley, Jennifer L.
Bradshaw, John L.
Rinehart, Nicole J.
TI An investigation of gait in children with Attention Deficit
Hyperactivity Disorder: A case controlled study
SO PSYCHIATRY RESEARCH
LA English
DT Article
DE ADHD; Autism; Gait; Social-communication disturbance; Inattention
ID HIGH-FUNCTIONING AUTISM; ASPERGERS-DISORDER; DEFICIT/HYPERACTIVITY
DISORDER; MOTOR; ADHD; PERFORMANCE; TASK; DISTURBANCE; CEREBELLUM; BOYS
AB This study aimed to compare the gait of children with ADHD - Combined Type (ADHD-CT) to typically developing (TD) children. Children with ADHD-CT (n=14; mean age 10 years 4 months) and a TD group (n=13; mean age 10 years 9 months) walked at self-selected slow, preferred and fast speed on an electronic walkway system. Participants completed a total of 15 walking trials; 5 trials per walking condition. Groups were matched on age, intellectual functioning, height and weight. In the preferred walking condition, there was no difference in spatio-temporal gait variables between the ADHD-CT and TD control groups. At self-selected fast speed, children with ADHD-CT were faster and walked with a higher cadence. The subtle alterations in gait pattern that may reflect a timing deficit is consistent with previous ADHD motor studies. In addition, this study extends previous studies in characterising the unique gait profile of non-medicated children with ADHD-CT where a diagnosis of autism spectrum disorder has been ruled out. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Papadopoulos, Nicole; Bradshaw, John L.; Rinehart, Nicole J.] Monash Univ, Ctr Dev Psychiat & Psychol, Sch Psychol & Psychiat, Clayton, Vic 3800, Australia.
[McGinley, Jennifer L.] Univ Melbourne, Melbourne, Vic 3010, Australia.
[McGinley, Jennifer L.] Southern Hlth, Clin Res Ctr Movement & Gait Disorders, Clayton, Vic, Australia.
[Papadopoulos, Nicole; Rinehart, Nicole J.] Deakin Univ, Sch Psychol, Deakin Child Study Ctr, Burwood, Vic 3125, Australia.
RP Papadopoulos, N (reprint author), Deakin Univ, Sch Psychol, Burwood Campus,Melbourne Burwood Campus, Burwood, Vic 3125, Australia.
EM Nicole.Papadopoulos@deakin.edu.au
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Wechsler D, 1999, WASI WECHSLER ABBREV
NR 41
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-1781
J9 PSYCHIAT RES
JI Psychiatry Res.
PD AUG 30
PY 2014
VL 218
IS 3
BP 319
EP 323
DI 10.1016/j.psychres.2014.04.037
PG 5
WC Psychiatry
SC Psychiatry
GA AK7GZ
UT WOS:000338598000009
PM 24837426
ER
PT J
AU Corbett, BA
Newsom, C
Key, AP
Qualls, LR
Edmiston, EK
AF Corbett, Blythe A.
Newsom, Cassandra
Key, Alexandra P.
Qualls, Lydia R.
Edmiston, E. Kale
TI Examining the relationship between face processing and social
interaction behavior in children with and without autism spectrum
disorder
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Play; Ecological validity; Neuropsychology;
Face memory
ID ECOLOGICAL VALIDITY; FACIAL EXPRESSIONS; RECOGNITION; EMOTIONS; BRAIN;
ADOLESCENTS; MOTIVATION; COGNITION; CORTISOL; IDENTITY
AB Background: Children with autism spectrum disorder (ASD) show impairment in reciprocal social communication, which includes deficits in social cognition and behavior. Since social cognition and social behavior are considered to be interdependent, it is valuable to examine social processes on multiple levels of analysis. Neuropsychological measures of face processing often reveal deficits in social cognition in ASD including the ability to identify and remember facial information. However, the extent to which neuropsychological measures are associated with or predictive of real-world social behavior is unclear.
Methods: The study investigated 66 children (ASD 34, typically developing (TD) 32) using neuropsychological measures of face processing (identity, affect, and memory). Children also participated in a peer interaction paradigm, which allowed observation and coding of natural social interaction behaviors during play with peers (e. g., Self-Play, Cooperative Play, Verbal Bout). ANCOVA, regression, and correlation models analyzed between-group differences, the ability of neuropsychological measures to predict social behavior, and the strength of the associations.
Results: Between-group differences were shown on Memory for Faces Delayed and the peer interaction variables Self-Play and Verbal Bout. Regression models indicated that Memory for Faces Delayed predicted the amount of Self-Play, Equipment use alone, and Cooperative Play with peers on the playground. Autism symptomology only predicted verbal exchange with peers.
Conclusions: Face memory strongly predicts relevant social engagement patterns in both children with and without ASD. Impairment in facial memory is associated with reduced 'real-world' social interaction and more self-play, whereas higher performance in face memory predicts more cooperative play. Results highlight the strong connection between face memory and reciprocal social interaction, suggesting that improvement in one may benefit the other.
C1 [Corbett, Blythe A.; Newsom, Cassandra; Qualls, Lydia R.] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37203 USA.
[Corbett, Blythe A.; Newsom, Cassandra; Key, Alexandra P.; Qualls, Lydia R.] Vanderbilt Univ, Vanderbilt Kennedy Ctr Res Human Dev, Nashville, TN 37203 USA.
[Corbett, Blythe A.] Vanderbilt Univ, Dept Psychol, Nashville, TN 37203 USA.
[Newsom, Cassandra] Vanderbilt Univ, Dept Pediat, Nashville, TN 37203 USA.
[Key, Alexandra P.] Vanderbilt Univ, Dept Hearing & Speech Sci, Nashville, TN 37203 USA.
[Edmiston, E. Kale] Vanderbilt Univ, Vanderbilt Brain Inst, Nashville, TN 37203 USA.
RP Corbett, BA (reprint author), Vanderbilt Univ, Dept Psychiat, PMB 40,230 Appleton Pl, Nashville, TN 37203 USA.
EM blythe.corbett@vanderbilt.edu
FU National Institute of Mental Health (NIMH) [MH085717]; National
Institute of Child Development (NICHD) [P30 HD15052]; CTSA award,
National Center for Advancing Translational Sciences [UL1TR000445]
FX The study was funded by a grant from the National Institute of Mental
Health (NIMH) MH085717 awarded to Blythe Corbett, a grant from the
National Institute of Child Development (NICHD) P30 HD15052 awarded to
the Vanderbilt Kennedy Center and a CTSA award No. UL1TR000445 from the
National Center for Advancing Translational Sciences. The NIMH and NICHD
did not have any involvement in the design; in the collection, analysis,
and interpretation of data; in the writing of the report; and in the
decision to submit the article for publication.
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NR 68
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD AUG 29
PY 2014
VL 6
AR 35
DI 10.1186/1866-1955-6-35
PG 11
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO2PK
UT WOS:000341167000001
PM 25180050
ER
PT J
AU Nankova, BB
Agarwal, R
MacFabe, DF
La Gamma, EF
AF Nankova, Bistra B.
Agarwal, Raj
MacFabe, Derrick F.
La Gamma, Edmund F.
TI Enteric Bacterial Metabolites Propionic and Butyric Acid Modulate Gene
Expression, Including CREB-Dependent Catecholaminergic
Neurotransmission, in PC12 Cells - Possible Relevance to Autism Spectrum
Disorders
SO PLOS ONE
LA English
DT Article
ID CHAIN FATTY-ACIDS; TYROSINE-HYDROXYLASE GENE; GLUTATHIONE REDOX
IMBALANCE; RAT DISTAL COLON; VALPROIC ACID; RODENT MODEL;
NEURODEVELOPMENTAL DISORDERS; HISTONE-DEACETYLASE; GUT MICROBIOTA;
MESSENGER-RNA
AB Alterations in gut microbiome composition have an emerging role in health and disease including brain function and behavior. Short chain fatty acids (SCFA) like propionic (PPA), and butyric acid (BA), which are present in diet and are fermentation products of many gastrointestinal bacteria, are showing increasing importance in host health, but also may be environmental contributors in neurodevelopmental disorders including autism spectrum disorders (ASD). Further to this we have shown SCFA administration to rodents over a variety of routes (intracerebroventricular, subcutaneous, intraperitoneal) or developmental time periods can elicit behavioral, electrophysiological, neuropathological and biochemical effects consistent with findings in ASD patients. SCFA are capable of altering host gene expression, partly due to their histone deacetylase inhibitor activity. We have previously shown BA can regulate tyrosine hydroxylase (TH) mRNA levels in a PC12 cell model. Since monoamine concentration is known to be elevated in the brain and blood of ASD patients and in many ASD animal models, we hypothesized that SCFA may directly influence brain monoaminergic pathways. When PC12 cells were transiently transfected with plasmids having a luciferase reporter gene under the control of the TH promoter, PPA was found to induce reporter gene activity over a wide concentration range. CREB transcription factor(s) was necessary for the transcriptional activation of TH gene by PPA. At lower concentrations PPA also caused accumulation of TH mRNA and protein, indicative of increased cell capacity to produce catecholamines. PPA and BA induced broad alterations in gene expression including neurotransmitter systems, neuronal cell adhesion molecules, inflammation, oxidative stress, lipid metabolism and mitochondrial function, all of which have been implicated in ASD. In conclusion, our data are consistent with a molecular mechanism through which gut related environmental signals such as increased levels of SCFA's can epigenetically modulate cell function further supporting their role as environmental contributors to ASD.
C1 [Nankova, Bistra B.; Agarwal, Raj; La Gamma, Edmund F.] Maria Fareri Childrens Hosp, Dept Pediat, New York Med Coll, Valhalla, NY 10595 USA.
[MacFabe, Derrick F.] Univ Western Ontario, Kilee Patchell Evans Autism Res Grp, Dept Psychol Neurosci, London, ON, Canada.
[MacFabe, Derrick F.] Univ Western Ontario, Dept Psychiat, Div Dev Disabil, London, ON N6A 3K7, Canada.
RP Nankova, BB (reprint author), Maria Fareri Childrens Hosp, Dept Pediat, New York Med Coll, Valhalla, NY 10595 USA.
EM bistra_nankova@nymc.edu
FU Children's Research Foundation; Children's and Women's Physicians of
Westchester (CWPW); GoodLife's Children's Foundation; Autism Research
Institute
FX Children's Research Foundation and Children's and Women's Physicians of
Westchester (CWPW) to BN and ELG; GoodLife's Children's Foundation and
Autism Research Institute to DM. The funders had no role in study
design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 134
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 29
PY 2014
VL 9
IS 8
AR e103740
DI 10.1371/journal.pone.0103740
PG 16
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO2EE
UT WOS:000341127500014
PM 25170769
ER
PT J
AU Lane, E
AF Lane, Earl
TI Brain Signaling May Be Next Target of Autism Treatment In a break with
tradition, researchers look to reverse the disorder's neurological
causes
SO SCIENCE
LA English
DT Editorial Material
NR 0
TC 0
Z9 0
PU AMER ASSOC ADVANCEMENT SCIENCE
PI WASHINGTON
PA 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA
SN 0036-8075
EI 1095-9203
J9 SCIENCE
JI Science
PD AUG 29
PY 2014
VL 345
IS 6200
BP 1013
EP 1013
PG 1
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AN8RE
UT WOS:000340870900029
ER
PT J
AU Yu, QW
Peng, Y
Mishra, V
Ouyang, A
Li, H
Zhang, H
Chen, M
Liu, SW
Huang, H
AF Yu, Qiaowen
Peng, Yun
Mishra, Virendra
Ouyang, Austin
Li, Hang
Zhang, Hong
Chen, Min
Liu, Shuwei
Huang, Hao
TI Microstructure, length, and connection of limbic tracts in normal human
brain development
SO FRONTIERS IN AGING NEUROSCIENCE
LA English
DT Article
DE limbic tract; development; trajectory; length; microstructure; DTI;
connectivity; free water elimination
ID RESTING-STATE NETWORKS; OBSESSIVE-COMPULSIVE DISORDER; ANTERIOR
CINGULATE CORTEX; WHITE-MATTER MATURATION; CENTRAL-NERVOUS-SYSTEM;
DEFAULT MODE NETWORK; DIFFUSION-TENSOR; STRUCTURAL CONNECTIVITY;
FUNCTIONAL CONNECTIVITY; ALZHEIMERS-DISEASE
AB The cingulum and fornix play an important role in memory, attention, spatial orientation, and feeling functions. Both microstructure and length of these limbic tracts can be affected by mental disorders such as Alzheimer's disease, depression, autism, anxiety, and schizophrenia. To date, there has been little systematic characterization of their microstructure, length, and functional connectivity in normally developing brains. In this study, diffusion tensor imaging (DTI) and resting state functional MRI (rs-fMRI) data from 65 normally developing right-handed subjects from birth to young adulthood was acquired. After cingulate gyrus part of the cingulum (cgc), hippocampal part of the cingulum (cgh) and fornix (fx) were traced with DTI tractography, absolute and normalized tract lengths and DTI-derived metrics including fractional anisotropy, mean, axial, and radial diffusivity were measured for traced limbic tracts. Free water elimination (EWE) algorithm was adopted to improve accuracy of the measurements of DTI-derived metrics. The role of these limbic tracts in the functional network at birth and adulthood was explored. We found a logarithmic age-dependent trajectory for EWE-corrected DTI metric changes with fast increase of microstructural integrity from birth to 2 years old followed by a slow increase to 25 years old. Normalized tract length of cgc increases with age, while no significant relationship with age was found for normalized tract lengths of cgh and fx. Stronger microstructural integrity on the left side compared to that of the right side was found. With integrated DTI and rs-fMRI, the key connectional role of cgc and cgh in the default mode network was confirmed as early as birth. Systematic characterization of length and DTI metrics after EWE correction of limbic tracts offers insight into their morphological and microstructural developmental trajectories. These trajectories may serve as a normal reference for pediatric patients with mental disorders.
C1 [Yu, Qiaowen; Liu, Shuwei] Shandong Univ, Sch Med, Res Ctr Sect & Imaging Anat, Shandong Prov Key Lab Mental Disorders, Jinan 250012, Shandong, Peoples R China.
[Yu, Qiaowen; Mishra, Virendra; Ouyang, Austin; Huang, Hao] Univ Texas SW Med Ctr Dallas, Adv Imag Res Ctr, Dallas, TX 75390 USA.
[Peng, Yun; Li, Hang; Zhang, Hong] Capital Med Univ, Beijing Childrens Hosp, Dept Radiol, Beijing, Peoples R China.
[Chen, Min] Univ Texas Dallas, Dept Math Sci, Richardson, TX 75083 USA.
[Huang, Hao] Univ Texas SW Med Ctr Dallas, Dept Radiol, Dallas, TX 75390 USA.
RP Liu, SW (reprint author), Shandong Univ, Sch Med, Res Ctr Sect & Imaging Anat, Shandong Prov Key Lab Mental Disorders, 44 West Wenhua Rd, Jinan 250012, Shandong, Peoples R China.
EM liusw@sdu.edu.cn; hao.huang@utsouthwestern.edu
FU NIH [MH092535, MH092535-S1]; Natural Science Foundation of China
[31271161, 31071050]; Specialized Research Fund for the Doctoral Program
of Higher Education of China [20120131130008]
FX This study is sponsored by NIH (MH092535 and MH092535-S1), Natural
Science Foundation of China (Grant Nos. 31271161 and 31071050), and
Specialized Research Fund for the Doctoral Program of Higher Education
of China (No. 20120131130008).
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NR 62
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1663-4365
J9 FRONT AGING NEUROSCI
JI Front. Aging Neurosci.
PD AUG 28
PY 2014
VL 6
AR 228
DI 10.3389/fnagi.2014.00228
PG 13
WC Geriatrics & Gerontology; Neurosciences
SC Geriatrics & Gerontology; Neurosciences & Neurology
GA AN9NT
UT WOS:000340934400001
PM 25221509
ER
PT J
AU Weinstein, TAR
Bales, KL
Maninger, N
Hostetler, CM
Capitanio, JP
AF Weinstein, Tamara A. R.
Bales, Karen L.
Maninger, Nicole
Hostetler, Caroline M.
Capitanio, John P.
TI Early involvement in friendships predicts later plasma concentrations of
oxytocin and vasopressin in juvenile rhesus macaques (Macaca mulatta)
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE affiliation; friendship; oxytocin; rhesus macaque; social behavior;
vasopressin
ID MALE PRAIRIE VOLES; AUTISM SPECTRUM DISORDERS;
CORTICOTROPIN-RELEASING-FACTOR; WILD FEMALE BABOONS; SEX-DIFFERENCES;
ARGININE-VASOPRESSIN; INTRANASAL OXYTOCIN; SOCIAL SUPPORT;
MICROTUS-OCHROGASTER; DEVELOPMENTAL EXPOSURE
AB The neuropeptides oxytocin (OT) and arginine vasopressin (AVP) are involved in social bonding in attachment relationships, but their role in friendship is poorly understood. We investigated whether rhesus macaques' (Macaca mulatta) friendships at age one predicted plasma OT and AVP at two later time points. Subjects were 54 rhesus macaques at the California National Primate Research Center (CNPRC). Blood was drawn during a brief capture-and-release in the home cage, and plasma assayed for OT and AVP using an enzyme immunoassay (EIA). Separate linear mixed models for each sex tested the effects of dominance rank, age, sampling time point, housing condition, parturition status, two blood draw timing measures, and five friendship types: proximity friendships, play friendships, reciprocal friendships (a preference for a peer that also preferred the subject), multiplex friendships (friendships displayed in more than one behavioral domain), and total number of friendships. Females' number of reciprocal and play friendships at age one significantly predicted later OT, additionally, these two friendship types interacted with rank, such that high-ranking females with the fewest friendships had the highest OT concentrations. Friendship did not predict later OT levels in males, however proximity, play, reciprocal, and total number of friendships predicted males' plasma AVP. Play and total number of friendships also tended to predict AVP in females. Our results show that peripheral measures of neuroendocrine functioning in juvenile rhesus monkeys are influenced by early involvement in friendships. Friendships have an especially strong impact on an individual's psychosocial development, and our data suggest OT and AVP as potential underlying mechanisms. Moreover, sex differences in the functioning of the OT and AVP systems, and their relation to friendship, may have important clinical implications for the use of OT as a therapeutic, as well as informing the social context in which it is administered.
C1 [Weinstein, Tamara A. R.; Bales, Karen L.; Maninger, Nicole; Hostetler, Caroline M.; Capitanio, John P.] Univ Calif Davis, Calif Natl Primate Res Ctr, Davis, CA 95616 USA.
[Hostetler, Caroline M.] Oregon Hlth & Sci Univ, Dept Behav Neurosci, Portland, OR 97201 USA.
RP Weinstein, TAR (reprint author), Univ Calif Davis, Calif Natl Primate Res Ctr, 1 Shields Ave, Davis, CA 95616 USA.
EM tarweinstein@ucdavis.edu
FU NIH [RR00169, RR019970, MH20006, HD053555, HD071998]; NSF; Good Nature
Institute
FX We are very grateful to Laura Del Rosso, Erna Tarara., Isabel
Shelton-Mottsmith, Christine Brennan, Katie Hinde, and Susie Kang for
assisting with data collection, and to the CNPRC animal care staff for
their help with Mood sampling, animal identification, and accommodating
our research schedule. This work was supported by NIH grant RR00169 to
the CNPRC and NIH grant RR019970 to John P. Capitanio. While conducting
this research, Tamara A. R. Weinstein was supported by the NSF Graduate
Research Fellowship and by the NIH training grant MH20006. During the
writing of this paper, Karen L. Bales was funded by NIH grants HD053555
and HD071998, and the Good Nature Institute.
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NR 143
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5153
J9 FRONT BEHAV NEUROSCI
JI Front. Behav. Neurosci.
PD AUG 28
PY 2014
VL 8
AR 295
DI 10.3389/fnbeh.2014.00295
PG 13
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AN9DY
UT WOS:000340907400001
PM 25221489
ER
PT J
AU Wilkins, RW
Hodges, DA
Laurienti, PJ
Steen, M
Burdette, JH
AF Wilkins, R. W.
Hodges, D. A.
Laurienti, P. J.
Steen, M.
Burdette, J. H.
TI Network Science and the Effects of Music Preference on Functional Brain
Connectivity: From Beethoven to Eminem
SO SCIENTIFIC REPORTS
LA English
DT Article
ID DEFAULT MODE NETWORK; SMALL-WORLD; EMOTIONAL RESPONSES; MEMORY; AUTISM;
CONSCIOUSNESS; PERSONALITY; CORRELATE; PLEASANT; DISEASE
AB Most people choose to listen to music that they prefer or 'like' such as classical, country or rock. Previous research has focused on how different characteristics of music (i.e., classical versus country) affect the brain. Yet, when listening to preferred music-regardless of the type-people report they often experience personal thoughts and memories. To date, understanding how this occurs in the brain has remained elusive. Using network science methods, we evaluated differences in functional brain connectivity when individuals listened to complete songs. We show that a circuit important for internally-focused thoughts, known as the default mode network, was most connected when listening to preferred music. We also show that listening to a favorite song alters the connectivity between auditory brain areas and the hippocampus, a region responsible for memory and social emotion consolidation. Given that musical preferences are uniquely individualized phenomena and that music can vary in acoustic complexity and the presence or absence of lyrics, the consistency of our results was unexpected. These findings may explain why comparable emotional and mental states can be experienced by people listening to music that differs as widely as Beethoven and Eminem. The neurobiological and neurorehabilitation implications of these results are discussed.
C1 [Wilkins, R. W.; Laurienti, P. J.; Steen, M.; Burdette, J. H.] Wake Forest Sch Med, Lab Complex Brain Networks, Winston Salem, NC 27157 USA.
[Wilkins, R. W.] Univ N Carolina, Gateway MRI Ctr, Joint Sch Nanosci & Nanoengn, Neuroimaging Lab Complex Syst, Greensboro, NC 27401 USA.
[Wilkins, R. W.; Hodges, D. A.] Univ N Carolina, Mus Res Inst, Greensboro, NC 27403 USA.
RP Wilkins, RW (reprint author), Wake Forest Sch Med, Lab Complex Brain Networks, Winston Salem, NC 27157 USA.
EM robinwwilkins@gmail.com
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NR 63
TC 2
Z9 2
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2045-2322
J9 SCI REP-UK
JI Sci Rep
PD AUG 28
PY 2014
VL 4
AR 6130
DI 10.1038/srep06130
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AN9NZ
UT WOS:000340935000001
PM 25167363
ER
PT J
AU Ciranna, L
Catania, MV
AF Ciranna, Lucia
Catania, Maria Vincenza
TI 5-HT7 receptors as modulators of neuronal excitability, synaptic
transmission and plasticity: physiological role and possible
implications in autism spectrum disorders
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Review
DE serotonin; 5-HT7 receptor; synaptic function; autism spectrum disorders;
Fragile X Syndrome
ID CA1 PYRAMIDAL NEURONS; RAT PREFRONTAL CORTEX; FRAGILE-X-SYNDROME;
HYPERPOLARIZATION-ACTIVATED CURRENT; EXTRACELLULAR-REGULATED KINASE;
MOUSE SUPRACHIASMATIC NUCLEUS; SEROTONIN REUPTAKE INHIBITORS;
ANTIDEPRESSANT-LIKE BEHAVIOR; NOVELTY-SEEKING BEHAVIOR; TEMPORAL-LOBE
EPILEPSY
AB Serotonin type 7 receptors (5-HT7) are expressed in several brain areas, regulate brain development, synaptic transmission and plasticity, and therefore are involved in various brain functions such as learning and memory. A number of studies suggest that 5-HT7 receptors could be potential pharmacotherapeutic target for cognitive disorders. Several abnormalities of serotonergic system have been described in patients with autism spectrum disorder (ASD), including abnormal activity of 5-HT transporter, altered blood and brain 5-HT levels, reduced 5-HT synthesis and altered expression of 5-HT receptors in the brain. A specific role for 5-HT7 receptors in ASD has not yet been demonstrated but some evidence implicates their possible involvement. We have recently shown that 5-HT7 receptor activation rescues hippocampal synaptic plasticity in a mouse model of Fragile X Syndrome, a monogenic cause of autism. Several other studies have shown that 5-HT7 receptors modulate behavioral flexibility, exploratory behavior, mood disorders and epilepsy, which include core and co-morbid symptoms of ASD. These findings further suggest an involvement of 5-HT7 receptors in ASD. Here, we review the physiological roles of 5-HT7 receptors and their implications in Fragile X Syndrome and other ASD.
C1 [Ciranna, Lucia] Univ Catania, Dept Biomed Sci, I-95125 Catania, Italy.
[Catania, Maria Vincenza] Natl Res Council Italy CNR, Catania, Italy.
[Catania, Maria Vincenza] IRCCS Oasi Maria SS, Neurobiol Lab, Troina, Italy.
RP Ciranna, L (reprint author), Univ Catania, Dept Biomed Sci, 6 Viale Andrea Doria, I-95125 Catania, Italy.
EM ciranna@unict.it
FU FRAXA Research Foundation; Telethon Foundation [GGP13145]
FX We wish to thank or Derek Bowie (McGill University, Montreal, QC,
Canada) for critical reading of the manuscript. The present work was
financed by FRAXA Research Foundation (call 2013) and Telethon
Foundation (grant GGP13145). Part of images from Motifolio drawing
toolkit1 were utilized in the figure preparation.
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NR 197
TC 4
Z9 4
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5102
J9 FRONT CELL NEUROSCI
JI Front. Cell. Neurosci.
PD AUG 27
PY 2014
VL 8
DI 10.3389/fncel.2014.00250
PG 17
WC Neurosciences
SC Neurosciences & Neurology
GA AP2ZT
UT WOS:000341945400001
PM 25221471
ER
PT J
AU Kashihara, K
AF Kashihara, Koji
TI A brain-computer interface for potential non-verbal facial communication
based on EEG signals related to specific emotions
SO FRONTIERS IN NEUROSCIENCE
LA English
DT Article
DE neutral faces; source localization; aversive conditioning; face
recognition; electroencephalogram; brain computer interfaces
ID AMYOTROPHIC-LATERAL-SCLEROSIS; HUMAN NEURAL SYSTEM; FACE PERCEPTION;
RECOGNITION; AMYGDALA; CORTEX; PROSOPAGNOSIA; EXPRESSIONS; PERFORMANCE;
SYNCHRONY
AB Unlike assistive technology for verbal communication, the brain-machine or brain-computer interface (BMI/BCI) has not been established as a non-verbal communication tool for amyotrophic lateral sclerosis (ALS) patients. Face-to-face communication enables access to rich emotional information, but individuals suffering from neurological disorders, such as ALS and autism, may not express their emotions or communicate their negative feelings. Although emotions may be inferred by looking at facial expressions, emotional prediction for neutral faces necessitates advanced judgment. The process that underlies brain neuronal responses to neutral faces and causes emotional changes remains unknown. To address this problem, therefore, this study attempted to decode conditioned emotional reactions to neutral face stimuli. This direction was motivated by the assumption that if electroencephalogram (EEG) signals can be used to detect patients' emotional responses to specific inexpressive faces, the results could be incorporated into the design and development of BMI/BCI-based non-verbal communication tools. To these ends, this study investigated how a neutral face associated with a negative emotion modulates rapid central responses in face processing and then identified cortical activities. The conditioned neutral face-triggered event-related potentials that originated from the posterior temporal lobe statistically significantly changed during late face processing (600-700 ms) after stimulus, rather than in early face processing activities, such as P1 and N170 responses. Source localization revealed that the conditioned neutral faces increased activity in the right fusiform gyrus (FG). This study also developed an efficient method for detecting implicit negative emotional responses to specific faces by using EEG signals. A classification method based on a support vector machine enables the easy classification of neutral faces that trigger specific individual emotions. In accordance with this classification, a face on a computer morphs into a sad or displeased countenance. The proposed method could be incorporated as a part of non-verbal communication tools to enable emotional expression.
C1 Univ Tokushima, Inst Technol & Sci, Tokushima 7708506, Japan.
RP Kashihara, K (reprint author), Univ Tokushima, Inst Technol & Sci, 2-1 Minamijyousanjima, Tokushima 7708506, Japan.
EM kashihara.koji@tokushima-u.ac.jp
FU Japan Society for the Promotion of Science (KAKENHI) [25330171]
FX This study was partially funded by a Grant-in-Aid for Scientific
Research (C) from Japan Society for the Promotion of Science (KAKENHI,
25330171). The author would like to thank Nagoya University and JST for
providing assistance during the EEG experiment.
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NR 56
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-453X
J9 FRONT NEUROSCI-SWITZ
JI Front. Neurosci.
PD AUG 26
PY 2014
VL 8
AR 244
DI 10.3389/fnins.2014.00244
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AW8LA
UT WOS:000346512100001
PM 25206321
ER
PT J
AU Soiza-Reilly, M
Commons, KG
AF Soiza-Reilly, Mariano
Commons, Kathryn G.
TI Unraveling the architecture of the dorsal raphe synaptic neuropil using
high-resolution neuroanatomy
SO FRONTIERS IN NEURAL CIRCUITS
LA English
DT Review
DE vesicular glutamate transporter; glutamate decarboxylase 65; synapses;
uttrathin serial-sections; axo-axonic
ID VESICULAR GLUTAMATE TRANSPORTERS; MESSENGER-RNA EXPRESSION; MEDIAL
PREFRONTAL CORTEX; VENTRAL TEGMENTAL AREA; SEROTONERGIC NEURONS; ARRAY
TOMOGRAPHY; PERIAQUEDUCTAL GRAY; EXCITATORY SYNAPSE; MAJOR DEPRESSION;
LATERAL HABENULA
AB The dorsal raphe nucleus (DRN), representing the main source of brains serotonin, is implicated in the pathophysiology and therapeutics of several mental disorders that can be debilitating and life-long including depression, anxiety and autism. The activity of DRN neurons is precisely regulated, both phasically and tonically, by excitatory glutamate and inhibitory GABAergic axons arising from extra-raphe areas as well as from local sources within the nucleus. Changes in serotonin neurotransmission associated with pathophysiology may be encoded by alterations within this network of regulatory afferents. However, the complex organization of the DRN circuitry remains still poorly understood. Using a recently developed high-resolution immunofluorescence technique called array tomography (AT) we quantitatively analyzed the relative contribution of different populations of glutamate axons originating from different brain regions to the excitatory drive of the DRN. Additionally, we examined the presence of GABA axons within the DRN and their possible association with glutamate axons. In this review, we summarize our findings on the architecture of the rodent DRN synaptic neuropil using high-resolution neuroanatomy, and discuss possible functional implications for the nucleus. Understanding of the synaptic architecture of neural circuits at high resolution will pave the way to understand how neural structure and function may be perturbed in pathological states.
C1 [Soiza-Reilly, Mariano] INSERM, Inst Fer Moulin, UMR S 839, F-75005 Paris, France.
[Soiza-Reilly, Mariano] Univ Paris 06, Paris, France.
[Commons, Kathryn G.] Boston Childrens Hosp, Dept Anesthesiol Perioperat & Pain Med, Boston, MA USA.
[Commons, Kathryn G.] Harvard Univ, Sch Med, Dept Anaesthesia, Boston, MA 02115 USA.
RP Soiza-Reilly, M (reprint author), INSERM, Inst Fer Moulin, UMR S 839, 17 Rue Fer Moulin, F-75005 Paris, France.
EM mariano.soiza-reilly@inserm.fr; kathryn.commons@childrens.harvard.edu
FU Sara Page Mayo Foundation for Pediatric Pain Research
FX This work was supported by the Sara Page Mayo Foundation for Pediatric
Pain Research.
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NR 64
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5110
J9 FRONT NEURAL CIRCUIT
JI Front. Neural Circuits
PD AUG 26
PY 2014
VL 8
AR 105
DI 10.3389/fncir.2014.00105
PG 7
WC Neurosciences
SC Neurosciences & Neurology
GA AP3BB
UT WOS:000341948800001
PM 25206323
ER
PT J
AU Cea-Del Rio, CA
Huntsman, MM
AF Cea-Del Rio, Christian A.
Huntsman, Molly M.
TI The contribution of inhibitory interneurons to circuit dysfunction in
Fragile X Syndrome
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Review
DE GABA; synchronization; inhibitory neurotransmission; synaptic
transmission; interneurons
ID AUTISM SPECTRUM DISORDER; PARVALBUMIN-POSITIVE INTERNEURONS; CRITICAL
PERIOD PLASTICITY; KNOCKOUT MOUSE MODEL; FMR1 KO MICE;
MENTAL-RETARDATION; GABA(A) RECEPTOR; NEURODEVELOPMENTAL DISORDERS;
POSTSYNAPTIC POTENTIALS; GABAERGIC INTERNEURONS
AB Many neurological disorders, including neurodevelopmental disorders, report hypersynchrony of neuronal networks. These alterations in neuronal synchronization suggest a link to the function of inhibitory interneurons. In Fragile X Syndrome (FXS), it has been reported that altered synchronization may underlie hyperexcitability, cognitive dysfunction and provide a link to the increased incidence of epileptic seizures. Therefore, understanding the roles of inhibitory intemeurons and how they control neuronal networks is of great importance in studying neurodevelopmental disorders such as FXS. Here, we present a review of how interneuron populations and inhibition are important contributors to the loss of excitatory/inhibitory balance seen in hypersynchronous and hyperexcitable networks from neurodevelopmental disorders, and specifically in FXS.
C1 [Cea-Del Rio, Christian A.; Huntsman, Molly M.] Univ Colorado, Skaggs Sch Pharm & Pharmaceut Sci, Dept Pharmaceut Sci, Aurora, CO 80045 USA.
[Huntsman, Molly M.] Univ Colorado, Sch Med, Dept Pediat, Aurora, CO 80045 USA.
RP Huntsman, MM (reprint author), Univ Colorado, Skaggs Sch Pharm & Pharmaceut Sci, Dept Pharmaceut Sci, Anschutz Med Campus,12850E Montview Blvd, Aurora, CO 80045 USA.
EM Molly.Huntsman@UCDenver.edu
FU National Institute of Disorders and Stroke [R01NS053719]; FRAXA research
foundation postdoctoral fellowship (CACDR)
FX This work was supported by the National Institute of Disorders and
Stroke (R01NS053719) and a FRAXA research foundation postdoctoral
fellowship (CACDR).
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NR 89
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5102
J9 FRONT CELL NEUROSCI
JI Front. Cell. Neurosci.
PD AUG 25
PY 2014
VL 8
AR 245
DI 10.3389/fncel.2014.00245
PG 7
WC Neurosciences
SC Neurosciences & Neurology
GA AP2ZN
UT WOS:000341944800001
PM 25202236
ER
PT J
AU Rossignol, R
Ranchon-Cole, I
Paris, A
Herzine, A
Perche, A
Laurenceau, D
Bertrand, P
Cercy, C
Pichon, J
Mortaud, S
Briault, S
Menuet, A
Perche, O
AF Rossignol, Rafaelle
Ranchon-Cole, Isabelle
Paris, Arnaud
Herzine, Ameziane
Perche, Astrid
Laurenceau, David
Bertrand, Pauline
Cercy, Christine
Pichon, Jacques
Mortaud, Stephane
Briault, Sylvain
Menuet, Arnaud
Perche, Olivier
TI Visual Sensorial Impairments in Neurodevelopmental Disorders: Evidence
for a Retinal Phenotype in Fragile X Syndrome
SO PLOS ONE
LA English
DT Article
ID FMR1 KNOCKOUT MICE; MENTAL-RETARDATION PROTEIN; SYNDROME MOUSE MODEL;
RECEPTOR-DEPENDENT TRANSLATION; SYNAPTIC DEVELOPMENT;
SOCIAL-INTERACTION; RHODOPSIN CONTENT; DENDRITIC SPINES; AUTISM; PSD-95
AB Visual sensory impairments are common in Mental Deficiency (MD) and Autism Spectrum Disorder (ASD). These defects are linked to cerebral dysfunction in the visual cortical area characterized by the deregulation of axon growth/guidance and dendrite spine immaturity of neurons. However, visual perception had not been addressed, although the retina is part of the central nervous system with a common embryonic origin. Therefore, we investigated retinal perception, the first event of vision, in a murine model of MD with autistic features. We document that retinal function is altered in Fmr1 KO mice, a model of human Fragile X Syndrome. Indeed, In Fmr1 KO mice had a lower retinal function characterized by a decreased photoreceptors neuron response, due to a 40% decrease in Rhodopsin content and to Rod Outer Segment destabilization. In addition, we observed an alteration of the visual signal transmission between photoreceptors and the inner retina which could be attributed to deregulations of pre- and post-synaptic proteins resulting in retinal neurons synaptic destabilization and to retinal neurons immaturity. Thus, for the first time, we demonstrated that retinal perception is altered in a murine model of MD with autistic features and that there are strong similarities between cerebral and retinal cellular and molecular defects. Our results suggest that both visual perception and integration must be taken into account in assessing visual sensory impairments in MD and ASD.
C1 [Rossignol, Rafaelle; Paris, Arnaud; Herzine, Ameziane; Pichon, Jacques; Mortaud, Stephane; Briault, Sylvain; Menuet, Arnaud; Perche, Olivier] CNRS, UMR7355, F-45071 Orleans, France.
[Rossignol, Rafaelle; Paris, Arnaud; Herzine, Ameziane; Pichon, Jacques; Mortaud, Stephane; Briault, Sylvain; Menuet, Arnaud; Perche, Olivier] Univ Orleans, Orleans, France.
[Perche, Astrid; Laurenceau, David; Briault, Sylvain; Perche, Olivier] Reg Hosp, Dept Genet, Orleans, France.
[Ranchon-Cole, Isabelle; Bertrand, Pauline; Cercy, Christine] Univ Clermont 1, Lab Sensorial Biophys, Clermont Ferrand, France.
RP Perche, O (reprint author), CNRS, UMR7355, F-45071 Orleans, France.
EM operche@cnrs-orleans.fr
FU CNRS; Regional Hospital of Orleans; University of Orleans; FEDER
[35106]; FRAXA Research Foundation
FX Research was supported by CNRS, Regional Hospital of Orleans, University
of Orleans, FEDER 35106, and FRAXA Research Foundation. The funders had
no role in study design, data collection and analysis, decision to
publish, or preparation of the manuscript.
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NR 65
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 25
PY 2014
VL 9
IS 8
AR e105996
DI 10.1371/journal.pone.0105996
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AN9TR
UT WOS:000340952200103
PM 25153086
ER
PT J
AU Rahbar, MH
Samms-Vaughan, M
Dickerson, AS
Loveland, KA
Ardjomand-Hessabi, M
Bressler, J
Shakespeare-Pellington, S
Grove, ML
Pearson, DA
Boerwinkle, E
AF Rahbar, Mohammad H.
Samms-Vaughan, Maureen
Dickerson, Aisha S.
Loveland, Katherine A.
Ardjomand-Hessabi, Manouchehr
Bressler, Jan
Shakespeare-Pellington, Sydonnie
Grove, Megan L.
Pearson, Deborah A.
Boerwinkle, Eric
TI Blood manganese concentrations in Jamaican children with and without
autism spectrum disorders
SO ENVIRONMENTAL HEALTH
LA English
DT Article
DE Manganese; Autism Spectrum Disorder; Neurodevelopment; Seafood;
Vegetables; Jamaica
ID HEAVY-METAL CONTAMINATION; DRINKING-WATER; SEAFOOD CONSUMPTION;
GENERAL-POPULATION; CHILDHOOD AUTISM; RISK-ASSESSMENT; EXPOSURE; AGE;
BIOMARKERS; HAIR
AB Background: Manganese is an essential element for human health and development. Previous studies have shown neurotoxic effects in children exposed to higher levels of manganese. Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that impairs social interaction and communication. Several studies have hypothesized that ASD is caused through environmental exposures during crucial stages in brain development. We investigated the possible association between blood manganese concentrations (BMC) and ASD. We also identified factors associated with BMC in typically developing (TD) Jamaican children.
Methods: We used data from 109 ASD cases with their 1:1 age- and sex-matched TD controls to compare mean BMC in Jamaican children (2-8 years of age) with and without ASD. We administered a pre-tested questionnaire to assess demographic and socioeconomic information, medical history, and potential exposure to manganese. Finally, we collected 2 mL of whole blood from each child for analysis of manganese levels. Using General Linear Models (GLM), we assessed the association between BMC and ASD status. Furthermore, we used two independent sample t-tests to identify factors associated with BMC in TD children.
Results: In univariable GLM analysis, we found no significant association between BMC and ASD, (10.9 mu g/L for cases vs. 10.5 mu g/L for controls; P = 0.29). In a multivariable GLM adjusting for paternal age, parental education, place of child's birth (Kingston parish), consumption of root vegetables, cabbage, saltwater fish, and cakes/buns, there was still no significant association between BMC and ASD status, (11.5 mu g/L for cases vs. 11.9 mu g/L for controls; P = 0.48). Our findings also indicated TD children who ate fresh water fish had a higher BMC than children who did not (11.0 mu g/L vs. 9.9 mu g/L; P = 0.03) as younger TD children (i.e., 2 <= age <= 4), (12.0 mu g/L vs. 10.2 mu g/L; P = 0.01).
Conclusions: While these results cannot be used to assess early exposure at potentially more susceptible time period, our findings suggest that there is no significant association between manganese exposures and ASD case status in Jamaica. Our findings also indicate that BMC in Jamaican children resemble those of children in the developed world and are much lower than those in the developing countries.
C1 [Rahbar, Mohammad H.; Boerwinkle, Eric] Univ Texas Sch Publ Hlth Houston, Div Epidemiol Human Genet & Environm Sci EHGES, Houston, TX 77030 USA.
[Rahbar, Mohammad H.] Univ Texas Med Sch Houston, Dept Internal Med, Div Clin & Translat Sci, Houston, TX 77030 USA.
[Rahbar, Mohammad H.; Dickerson, Aisha S.; Ardjomand-Hessabi, Manouchehr] Univ Texas Hlth Sci Ctr Houston, CCTS, Houston, TX 77030 USA.
[Samms-Vaughan, Maureen; Shakespeare-Pellington, Sydonnie] Univ W Indies, Dept Child & Adolescent Hlth, Kingston, Jamaica.
[Loveland, Katherine A.; Pearson, Deborah A.] Univ Texas Med Sch Houston, Dept Psychiat & Behav Sci, Houston, TX 77054 USA.
[Bressler, Jan; Grove, Megan L.; Boerwinkle, Eric] Univ Texas Hlth Sci Ctr Houston, Sch Publ Hlth, Human Genet Ctr, Houston, TX 77030 USA.
RP Rahbar, MH (reprint author), Univ Texas Sch Publ Hlth Houston, Div Epidemiol Human Genet & Environm Sci EHGES, Houston, TX 77030 USA.
EM Mohammad.H.Rahbar@uth.tmc.edu
FU Eunice Kennedy Shriver National Institute of Child Health and Human
Development (NICHD); National Institutes of Health Fogarty International
Center (NIH-FIC) [R21HD057808]; National Institute of Environmental
Health Sciences (NIEHS) [R01ES022165]; NIH Centers for Translational
Science Award (NIH CTSA) [UL1 RR024148]; National Center for Research
Resources (NCRR); National Center for Advancing Translational Sciences
(NCATS) [UL1 TR000371]; Biostatistics/Epidemiology/Research Design
(BERD) component of the Center for Clinical and Translational Sciences
(CCTS)
FX This research is co-funded by the Eunice Kennedy Shriver National
Institute of Child Health and Human Development (NICHD) and the National
Institutes of Health Fogarty International Center (NIH-FIC) by a grant
[R21HD057808] as well as National Institute of Environmental Health
Sciences (NIEHS) by a grant [R01ES022165] awarded to University of Texas
Health Science Center at Houston. We also acknowledge the support
provided by the Biostatistics/Epidemiology/Research Design (BERD)
component of the Center for Clinical and Translational Sciences (CCTS)
for this project. CCTS is mainly funded by the NIH Centers for
Translational Science Award (NIH CTSA) grant (UL1 RR024148), awarded to
University of Texas Health Science Center at Houston in 2006 by the
National Center for Research Resources (NCRR) and its renewal (UL1
TR000371) by the National Center for Advancing Translational Sciences
(NCATS). The content is solely the responsibility of the authors and
does not necessarily represent the official views of the NICHD or the
NIH-FIC or NIEHS or the NCRR or the NCATS.
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NR 80
TC 3
Z9 3
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1476-069X
J9 ENVIRON HEALTH-GLOB
JI Environ. Health
PD AUG 23
PY 2014
VL 13
AR 69
DI 10.1186/1476-069X-13-69
PG 14
WC Environmental Sciences; Public, Environmental & Occupational Health
SC Environmental Sciences & Ecology; Public, Environmental & Occupational
Health
GA AP4KA
UT WOS:000342044400001
PM 25149876
ER
PT J
AU Gazzellone, MJ
Zhou, X
Lionel, AC
Uddin, M
Thiruvahindrapuram, B
Liang, S
Sun, CH
Wang, J
Zou, MY
Tammimies, K
Walker, S
Selvanayagam, T
Wei, J
Wang, ZZ
Wu, LJ
Scherer, SW
AF Gazzellone, Matthew J.
Zhou, Xue
Lionel, Anath C.
Uddin, Mohammed
Thiruvahindrapuram, Bhooma
Liang, Shuang
Sun, Caihong
Wang, Jia
Zou, Mingyang
Tammimies, Kristiina
Walker, Susan
Selvanayagam, Thanuja
Wei, John
Wang, Zhuozhi
Wu, Lijie
Scherer, Stephen W.
TI Copy number variation in Han Chinese individuals with autism spectrum
disorder
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder (ASD); Copy number variations (CNVs);
Microarray diagnostic testing; Han Chinese
ID MILLER-DIEKER-SYNDROME; STRUCTURAL VARIATION; VARIANTS; GENES;
IDENTIFICATION; MICRODELETIONS; PHENOTYPES; MUTATIONS; DISCOVERY;
FAMILIES
AB Background: Autism spectrum disorders (ASDs) are a group of neurodevelopmental conditions with a demonstrated genetic etiology. Rare (<1% frequency) copy number variations (CNVs) account for a proportion of the genetic events involved, but the contribution of these events in non-European ASD populations has not been well studied. Here, we report on rare CNVs detected in a cohort of individuals with ASD of Han Chinese background.
Methods: DNA samples were obtained from 104 ASD probands and their parents who were recruited from Harbin, China. Samples were genotyped on the Affymetrix CytoScan HD platform. Rare CNVs were identified by comparing data with 873 technology-matched controls from Ontario and 1,235 additional population controls of Han Chinese ethnicity.
Results: Of the probands, 8.6% had at least 1 de novo CNV (overlapping the GIGYF2, SPRY1, 16p13.3, 16p11.2, 17p13.3-17p13.2, DMD, and NAP1L6 genes/loci). Rare inherited CNVs affected other plausible neurodevelopmental candidate genes including GRID2, LINGO2, and SLC39A12. A 24-kb duplication was also identified at YWHAE, a gene previously implicated in ASD and other developmental disorders. This duplication is observed at a similar frequency in cases and in population controls and is likely a benign Asian-specific copy number polymorphism.
Conclusions: Our findings help define genomic features relevant to ASD in the Han Chinese and emphasize the importance of using ancestry-matched controls in medical genetic interpretations.
C1 [Gazzellone, Matthew J.; Zhou, Xue; Lionel, Anath C.; Uddin, Mohammed; Thiruvahindrapuram, Bhooma; Tammimies, Kristiina; Walker, Susan; Selvanayagam, Thanuja; Wei, John; Wang, Zhuozhi; Scherer, Stephen W.] Hosp Sick Children, Peter Gilgan Ctr Res & Learning, Ctr Appl Genom, Toronto, ON M5G 0A4, Canada.
[Gazzellone, Matthew J.; Zhou, Xue; Lionel, Anath C.; Uddin, Mohammed; Thiruvahindrapuram, Bhooma; Tammimies, Kristiina; Walker, Susan; Selvanayagam, Thanuja; Wei, John; Wang, Zhuozhi; Scherer, Stephen W.] Hosp Sick Children, Peter Gilgan Ctr Res & Learning, Program Genet & Genome Biol, Toronto, ON M5G 0A4, Canada.
[Gazzellone, Matthew J.; Lionel, Anath C.; Scherer, Stephen W.] Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A1, Canada.
[Gazzellone, Matthew J.; Lionel, Anath C.; Scherer, Stephen W.] Univ Toronto, McLaughlin Ctr, Toronto, ON M5S 1A1, Canada.
[Zhou, Xue; Liang, Shuang; Sun, Caihong; Wang, Jia; Zou, Mingyang; Wu, Lijie] Harbin Med Univ, Dept Childrens & Adolescent Hlth, Coll Publ Hlth, Harbin 150086, Heilongjiang, Peoples R China.
[Zhou, Xue] Heilongjiang Prov Ctr Dis Control & Prevent, Harbin 150030, Heilongjiang, Peoples R China.
[Tammimies, Kristiina] Karolinska Inst, Dept Womens & Childrens Hlth, Ctr Neurodev Disorders, S-11330 Stockholm, Sweden.
RP Scherer, SW (reprint author), Hosp Sick Children, Peter Gilgan Ctr Res & Learning, Ctr Appl Genom, 686 Bay St,Room 139800, Toronto, ON M5G 0A4, Canada.
EM stephen.scherer@sickkids.ca
RI Scherer, Stephen /B-3785-2013
OI Scherer, Stephen /0000-0002-8326-1999
FU Centre for Applied Genomics; University of Toronto McLaughlin Centre;
NeuroDevNet; Genome Canada; Ontario Genomics Institute [4445]; Canadian
Institutes for Health Research (CIHR) [FRN 74527, FRNXGG818]; Canadian
Institute for Advanced Research; Canada Foundation for Innovation;
Government of Ontario [GL2-01-013]; Ontario Brain Institute; Autism
Speaks; Ontario Graduate Scholarship; Frederick Banting and Charles Best
Canada Graduate Scholarship (CIHR-Masters)
FX The authors would like to thank Dr. Berivan Baskin and Dr. Peter Ray for
scientific advice, Hong Yang Chen for technical assistance, and The
Centre for Applied Genomics for support. This project was supported by
grants from the University of Toronto McLaughlin Centre, NeuroDevNet,
Genome Canada and the Ontario Genomics Institute (Project 4445), the
Canadian Institutes for Health Research (CIHR) (FRN 74527 and
FRNXGG818), the Canadian Institute for Advanced Research, the Canada
Foundation for Innovation, the Government of Ontario (GL2-01-013), the
Ontario Brain Institute, and Autism Speaks. MJG was supported by the
Ontario Graduate Scholarship and a Frederick Banting and Charles Best
Canada Graduate Scholarship (CIHR-Masters). SWS holds the
GlaxoSmithKline-CIHR Chair in Genome Sciences at the University of
Toronto and the Hospital for Sick Children.
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NR 32
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD AUG 23
PY 2014
VL 6
AR 34
DI 10.1186/1866-1955-6-34
PG 7
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO2PJ
UT WOS:000341166900001
PM 25170348
ER
PT J
AU Fields, C
AF Fields, Chris
TI Motion, identity and the bias toward agency
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE analogy; causal reasoning; infant cognition; mirror neuron system;
structure mapping; systemizing
ID MIRROR NEURON SYSTEM; AUTISM SPECTRUM DISORDERS; BIOLOGICAL MOTION;
SOCIAL BRAIN; OBJECT INDIVIDUATION; ATTENTIONAL ACCOUNT; INFANTS
PERCEPTION; PRESCHOOLERS USE; EPISODIC MEMORY; SEX-DIFFERENCES
AB The well-documented human bias toward agency as a cause and therefore an explanation of observed events is typically attributed to evolutionary selection for a "social brain". Based on a review of developmental and adult behavioral and neurocognitive data, it is argued that the bias toward agency is a result of the default human solution, developed during infancy, to the computational requirements of object re-identification over gaps in observation of more than a few seconds. If this model is correct, overriding the bias toward agency to construct mechanistic explanations of observed events requires structure-mapping inferences, implemented by the pre-motor action planning system, that replace agents with mechanisms as causes of unobserved changes in contextual or featural properties of objects. Experiments that would test this model are discussed.
C1 [Fields, Chris] New Mexico State Univ, Las Cruces, NM 88003 USA.
EM fieldsres@gmail.com
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NR 131
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD AUG 21
PY 2014
VL 8
AR 597
DI 10.3389/fnhum.2014.00597
PG 13
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AN7YP
UT WOS:000340817200001
PM 25191245
ER
PT J
AU Hogan-Brown, AL
Hoedemaker, RS
Gordon, PC
Losh, M
AF Hogan-Brown, Abigail L.
Hoedemaker, Renske S.
Gordon, Peter C.
Losh, Molly
TI Eye-voice span during rapid automatized naming: evidence of reduced
automaticity in individuals with autism spectrum disorder and their
siblings
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Siblings; Language; Rapid automatized naming;
Eye tracking; Endophenotype
ID DYSLEXIA; CHILDREN; DEFICITS; DISABILITIES; FLUENCY; FAMILY; RISK; RAN
AB Background: Individuals with autism spectrum disorder (ASD) and their parents demonstrate impaired performance in rapid automatized naming (RAN), a task that recruits a variety of linguistic and executive processes. Though the basic processes that contribute to RAN differences remain unclear, eye-voice relationships, as measured through eye tracking, can provide insight into cognitive and perceptual processes contributing to RAN performance. For example, in RAN, eye-voice span (EVS), the distance ahead the eyes are when articulation of a target item's label begins, is an indirect measure of automaticity of the processes underlying RAN. The primary objective of this study was to investigate automaticity in naming processes, as indexed by EVS during RAN. The secondary objective was to characterize RAN difficulties in individuals with ASD and their siblings.
Methods: Participants (aged 15-33 years) included 21 individuals with ASD, 23 siblings of individuals with ASD, and 24 control subjects, group-matched on chronological age. Naming time, frequency of errors, and EVS were measured during a RAN task and compared across groups.
Results: A stepwise pattern of RAN performance was observed, with individuals with ASD demonstrating the slowest naming across all RAN conditions, controls demonstrating the fastest naming, and siblings demonstrating intermediate performance. Individuals with ASD exhibited smaller EVSs than controls on all RAN conditions, and siblings exhibited smaller EVSs during number naming (the most highly automatized type of naming). EVSs were correlated with naming times in controls only, and only in the more automatized conditions.
Conclusions: These results suggest that reduced automaticity in the component processes of RAN may underpin differences in individuals with ASD and their siblings. These findings also provide further support that RAN abilities are impacted by genetic liability to ASD. This study has important implications for understanding the underlying skills contributing to language-related deficits in ASD.
C1 [Hogan-Brown, Abigail L.; Losh, Molly] Northwestern Univ, Roxelyn & Richard Pepper Dept Commun Sci & Disord, Evanston, IL 60208 USA.
[Hoedemaker, Renske S.; Gordon, Peter C.] Univ N Carolina, Dept Psychol, Chapel Hill, NC 27599 USA.
RP Losh, M (reprint author), Northwestern Univ, Roxelyn & Richard Pepper Dept Commun Sci & Disord, Evanston, IL 60208 USA.
EM m-losh@northwestern.edu
RI Hogan-Brown, Abigail/I-8091-2012
OI Hogan-Brown, Abigail/0000-0002-2913-7356
FU National Institute of Deafness and Other Communication Disorders
[R01DC010191, T32DC009399]
FX This study was supported by grants R01DC010191 and T32DC009399 from the
National Institute of Deafness and Other Communication Disorders. The
study sponsors had no role in the design and conduct of the study;
collection, management, analysis, and interpretation of the data;
preparation, review, or approval of the manuscript; and decision to
submit the manuscript for publication. We also acknowledge the support
of the Research Participant Registry Core of the Carolina Institute for
Developmental Disabilities (P30HD03110) for their role in participant
recruitment. The authors would like to thank Sejal Shah and Bret Kravis
for their assistance with data processing. The authors are also grateful
to the individuals and families who participated in this study.
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TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
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EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD AUG 21
PY 2014
VL 6
AR 33
DI 10.1186/1866-1955-6-33
PG 11
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO2PI
UT WOS:000341166800001
PM 25177372
ER
PT J
AU Samsam, M
Ahangari, R
Naser, SA
AF Samsam, Mohtashem
Ahangari, Raheleh
Naser, Saleh A.
TI Pathophysiology of autism spectrum disorders: Revisiting
gastrointestinal involvement and immune imbalance
SO WORLD JOURNAL OF GASTROENTEROLOGY
LA English
DT Review
DE Autism spectrum disorders; Gastrointestinal abnormalities; Immune
activation; Crohn's disease; Neuropeptides; Brain-derived neurotrophic
factor; Mycobacterium paratuberculosis
ID GENE-RELATED PEPTIDE; AVIUM SUBSPECIES PARATUBERCULOSIS; TRIGEMINAL
GANGLION NEURONS; CROHNS-DISEASE; INTESTINAL PERMEABILITY; NEUROTROPHIC
FACTOR; DEVELOPMENTAL DELAY; RECEPTOR ANTAGONIST; MENTAL-RETARDATION;
MOOD DISORDERS
AB Autism spectrum disorders (ASD) comprise a group of neurodevelopmental abnormalities that begin in early childhood and are characterized by impairment of social communication and behavioral problems including restricted interests and repetitive behaviors. Several genes have been implicated in the pathogenesis of ASD, most of them are involved in neuronal synaptogenesis. A number of environmental factors and associated conditions such as gastrointestinal (GI) abnormalities and immune imbalance have been linked to the pathophysiology of ASD. According to the March 2012 report released by United States Centers for Disease Control and Prevention, the prevalence of ASD has sharply increased during the recent years and one out of 88 children suffers now from ASD symptoms. Although there is a strong genetic base for the disease, several associated factors could have a direct link to the pathogenesis of ASD or act as modifiers of the genes thus aggravating the initial problem. Many children suffering from ASD have GI problems such as abdominal pain, chronic diarrhea, constipation, vomiting, gastroesophageal reflux, and intestinal infections. A number of studies focusing on the intestinal mucosa, its permeability, abnormal gut development, leaky gut, and other GI problem raised many questions but studies were somehow inconclusive and an expert panel of American Academy of Pediatrics has strongly recommended further investigation in these areas. GI tract has a direct connection with the immune system and an imbalanced immune response is usually seen in ASD children. Maternal infection or autoimmune diseases have been suspected. Activation of the immune system during early development may have deleterious effect on various organs including the nervous system. In this review we revisited briefly the GI and immune system abnormalities and neuropeptide imbalance and their role in the pathophysiology of ASD and discussed some future research directions. (C) 2014 Baishideng Publishing Group Inc. All rights reserved.
C1 [Samsam, Mohtashem; Ahangari, Raheleh; Naser, Saleh A.] Univ Cent Florida, Coll Med, Burnett Sch Biomed Sci, Orlando, FL 32816 USA.
RP Naser, SA (reprint author), Univ Cent Florida, Coll Med, Burnett Sch Biomed Sci, Bldg 20,BMS 136,4110 Libra Dr, Orlando, FL 32816 USA.
EM saleh.naser@ucf.edu
FU University of Central Florida
FX Supported by University of Central Florida
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NR 118
TC 2
Z9 2
PU BAISHIDENG PUBLISHING GROUP INC
PI PLEASANTON
PA 8226 REGENCY DR, PLEASANTON, CA 94588 USA
SN 1007-9327
EI 2219-2840
J9 WORLD J GASTROENTERO
JI World J. Gastroenterol.
PD AUG 21
PY 2014
VL 20
IS 29
BP 9942
EP 9951
DI 10.3748/wjg.v20.i29.9942
PG 10
WC Gastroenterology & Hepatology
SC Gastroenterology & Hepatology
GA AN6TK
UT WOS:000340730300021
PM 25110424
ER
PT J
AU James, WH
AF James, William H.
TI An update on the hypothesis that one cause of autism is high
intrauterine levels of testosterone of maternal origin
SO JOURNAL OF THEORETICAL BIOLOGY
LA English
DT Article
DE Sex ratio; Risk factors; Multifactorial threshold inheritance
ID MAMMALIAN SEX-RATIOS; PARENTAL HORMONE-LEVELS; 4TH DIGIT RATIO;
PERINATAL RISK-FACTORS; MALE BRAIN THEORY; SPECTRUM DISORDERS;
COMPREHENSIVE METAANALYSIS; GROWTH-RETARDATION; LIFE-STYLE; PREGNANCY
AB Baron-Cohen's hypothesis that autism is caused by exposure to high intrauterine testosterone levels is considered in the context of (1) my hormonal hypothesis of sex ratio and (2) the notion of multifactorial inheritance. This yields the suggestions that (1) female cases of autism may be the product of (high genetic loading+moderate environmental exposure) and male cases of (high environmental exposure+moderate genetic loading), (2) one environmental agent is intrauterine testosterone and (3) the mother is the major source of that testosterone. These suggestions may help to explain most of the major established epidemiological risk factors for autism. These include various forms of pathology associated with psychological and/or physical stress. Stress of many sorts promotes the secretion of adrenal androgens in women. The three suggestions above may also explain some recently described features of autism including the psychological, behavioural and neuroanatomical differences between male and female cases. (C) 2014 Elsevier Ltd. All rights reserved.
C1 UCL, Dept Genet Evolut & Environm, Galton Lab, London WC1 6BT, England.
RP James, WH (reprint author), UCL, Dept Genet Evolut & Environm, Galton Lab, Gower St, London WC1 6BT, England.
EM w.james@ucl.ac.uk
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NR 100
TC 0
Z9 0
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 0022-5193
EI 1095-8541
J9 J THEOR BIOL
JI J. Theor. Biol.
PD AUG 21
PY 2014
VL 355
BP 33
EP 39
DI 10.1016/j.jtbi.2014.03.036
PG 7
WC Biology; Mathematical & Computational Biology
SC Life Sciences & Biomedicine - Other Topics; Mathematical & Computational
Biology
GA AJ7GL
UT WOS:000337865100004
PM 24703983
ER
PT J
AU Righi, G
Tierney, AL
Tager-Flusberg, H
Nelson, CA
AF Righi, Giulia
Tierney, Adrienne L.
Tager-Flusberg, Helen
Nelson, Charles A.
TI Functional Connectivity in the First Year of Life in Infants at Risk for
Autism Spectrum Disorder: An EEG Study
SO PLOS ONE
LA English
DT Article
ID BRAIN; LANGUAGE; ACTIVATION; COHERENCE; CHILDREN; SPEECH;
UNDERCONNECTIVITY; REPRESENTATIONS; SYNCHRONIZATION; TODDLERS
AB In the field of autism research, recent work has been devoted to studying both behavioral and neural markers that may aide in early identification of autism spectrum disorder (ASD). These studies have often tested infants who have a significant family history of autism spectrum disorder, given the increased prevalence observed among such infants. In the present study we tested infants at high-and low-risk for ASD (based on having an older sibling diagnosed with the disorder or not) at 6-and 12-months-of-age. We computed intrahemispheric linear coherence between anterior and posterior sites as a measure of neural functional connectivity derived from electroencephalography while the infants were listening to speech sounds. We found that by 12-months-of-age infants at risk for ASD showed reduced functional connectivity compared to low risk infants. Moreover, by 12-months-of-age infants later diagnosed with ASD showed reduced functional connectivity, compared to both infants at low risk for the disorder and infants at high risk who were not later diagnosed with ASD. Significant differences in functional connectivity were also found between low-risk infants and high-risk infants who did not go onto develop ASD. These results demonstrate that reduced functional connectivity appears to be related to genetic vulnerability for ASD. Moreover, they provide further evidence that ASD is broadly characterized by differences in neural integration that emerge during the first year of life.
C1 [Righi, Giulia] Univ Massachusetts, Dept Psychol, Amherst, MA 01003 USA.
[Tierney, Adrienne L.] Harvard Univ, Harvard Coll Writing Program, Cambridge, MA 02138 USA.
[Tager-Flusberg, Helen] Boston Univ, Dept Psychol & Brain Sci, Boston, MA 02215 USA.
[Nelson, Charles A.] Boston Childrens Hosp, Div Dev Med, Boston, MA 02115 USA.
[Nelson, Charles A.] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA.
[Nelson, Charles A.] Harvard Univ, Grad Sch Educ, Cambridge, MA 02138 USA.
RP Nelson, CA (reprint author), Boston Childrens Hosp, Div Dev Med, Boston, MA 02115 USA.
EM charles_nelson@harvard.edu
FU National Institute on Deafness and Other Communication Disorders (NIDCD)
[R21 DC 08637]; Autism Speaks; NIDCD [RO1 DC 10290]; Simon's Foundation
FX Funding was provided by grant from National Institute on Deafness and
Other Communication Disorders (NIDCD) R21 DC 08637 and Autism Speaks to
HTF. Funding was provided by grant NIDCD RO1 DC 10290 and the Simon's
Foundation to CAN and HTF. The agencies/funders had NO role in design
data analysis or publication.
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NR 47
TC 3
Z9 3
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 20
PY 2014
VL 9
IS 8
AR e105176
DI 10.1371/journal.pone.0105176
PG 8
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AQ3JB
UT WOS:000342687200057
PM 25140874
ER
PT J
AU Qureshi, AY
Mueller, S
Snyder, AZ
Mukherjee, P
Berman, JI
Roberts, TPL
Nagarajan, SS
Spiro, JE
Chung, WK
Sherr, EH
Buckner, RL
AF Qureshi, Abid Y.
Mueller, Sophia
Snyder, Abraham Z.
Mukherjee, Pratik
Berman, Jeffrey I.
Roberts, Timothy P. L.
Nagarajan, Srikantan S.
Spiro, John E.
Chung, Wendy K.
Sherr, Elliott H.
Buckner, Randy L.
CA Simons VIP Consortium
TI Opposing Brain Differences in 16p11.2 Deletion and Duplication Carriers
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE 16p11.2; ASD; CNV; copy number variation; morphometry; structural MRI
ID AUTISM SPECTRUM DISORDER; SURFACE-BASED ANALYSIS; WHITE-MATTER; CORTICAL
THICKNESS; HEAD CIRCUMFERENCE; NORMAL INDIVIDUALS; COSTELLO SYNDROME;
HUMAN NEOCORTEX; CHILDREN; VOLUME
AB Deletions and duplications of the recurrent similar to 600 kb chromosomal BP4-BP5 region of 16p11.2 are associated with a broad variety of neurodevelopmental outcomes including autism spectrum disorder. A clue to the pathogenesis of the copy number variant (CNV)'s effect on the brain is that the deletion is associated with a head size increase, whereas the duplication is associated with a decrease. Here we analyzed brain structure in a clinically ascertained group of human deletion (N = 25) and duplication (N = 17) carriers from the Simons Variation in Individuals Project compared with age-matched controls (N = 29 and 33, respectively). Multiple brain measures showed increased size in deletion carriers and reduced size in duplication carriers. The effects spanned global measures of intracranial volume, brain size, compartmental measures of gray matter and white matter, subcortical structures, and the cerebellum. Quantitatively, the largest effect was on the thalamus, but the collective results suggest a pervasive rather than a selective effect on the brain. Detailed analysis of cortical gray matter revealed that cortical surface area displays a strong dose-dependent effect of CNV (deletion > control > duplication), whereas average cortical thickness is less affected. These results suggest that the CNV may exert its opposing influences through mechanisms that influence early stages of embryonic brain development.
C1 [Qureshi, Abid Y.; Buckner, Randy L.] Harvard Univ, Dept Psychol, Cambridge, MA 02138 USA.
[Qureshi, Abid Y.; Buckner, Randy L.] Harvard Univ, Ctr Brain Sci, Cambridge, MA 02138 USA.
[Qureshi, Abid Y.] Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA.
[Buckner, Randy L.] Massachusetts Gen Hosp, Dept Psychiat, Boston, MA 02114 USA.
[Mueller, Sophia; Buckner, Randy L.] Massachusetts Gen Hosp, Dept Radiol, Athinoula A Martinos Ctr Biomed Imaging, Charlestown, MA 02129 USA.
[Mueller, Sophia] Univ Munich, Inst Clin Radiol, D-81377 Munich, Germany.
[Snyder, Abraham Z.] Washington Univ, Sch Med St Louis, Dept Neurol, St Louis, MO 63110 USA.
[Snyder, Abraham Z.] Washington Univ, Sch Med St Louis, Dept Radiol, St Louis, MO 63110 USA.
[Mukherjee, Pratik; Nagarajan, Srikantan S.] Univ Calif San Francisco, Dept Radiol & Biomed Imaging, San Francisco, CA 94158 USA.
[Sherr, Elliott H.] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USA.
[Berman, Jeffrey I.; Roberts, Timothy P. L.] Childrens Hosp Philadelphia, Dept Radiol, Philadelphia, PA 19104 USA.
[Spiro, John E.] Simons Fdn, New York, NY 10010 USA.
[Chung, Wendy K.] Columbia Univ, Med Ctr, Dept Pediat & Med, New York, NY 10032 USA.
RP Buckner, RL (reprint author), Harvard Univ, Northwest Bldg,Room 280-06,52 Oxford St, Cambridge, MA 02138 USA.
EM randy_buckner@harvard.edu
FU Simons Foundation (SFARI) [219193]; NIH/NINDS [5R25NS065743]
FX This work was supported by a Grant from the Simons Foundation (SFARI no.
219193 to R.B.). We thank all of the families at the participating
Simons Variation in Individuals Project (VIP) sites, as well as the
Simons VIP Consortium. We appreciate obtaining access to phenotypic data
on SFARI Base. Approved researchers can obtain the Simons VIP population
dataset described in this study by contacting the Simons Foundation
Autism Research Initiative. A.Q. was supported by NIH/NINDS
5R25NS065743. We thank Avram Holmes for helpful advice on data analysis
and Dr Nicholas Katsanis for insightful discussion.
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NR 63
TC 6
Z9 6
PU SOC NEUROSCIENCE
PI WASHINGTON
PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA
SN 0270-6474
J9 J NEUROSCI
JI J. Neurosci.
PD AUG 20
PY 2014
VL 34
IS 34
BP 11199
EP 11211
DI 10.1523/JNEUROSCI.1366-14.2014
PG 13
WC Neurosciences
SC Neurosciences & Neurology
GA AO4MI
UT WOS:000341312600005
PM 25143601
ER
PT J
AU Diehl, MM
Romanski, LM
AF Diehl, Maria M.
Romanski, Lizabeth M.
TI Responses of Prefrontal Multisensory Neurons to Mismatching Faces and
Vocalizations
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE communication; faces; multisensory integration; prefrontal cortex;
primate; vocalizations
ID AUTISM SPECTRUM DISORDERS; SUPERIOR TEMPORAL SULCUS; CROSS-MODAL
INTEGRATION; AUDITORY-CORTEX; RHESUS-MONKEY; AUDIOVISUAL SPEECH;
FRONTAL-CORTEX; FACIAL EXPRESSIONS; VISUAL INFORMATION; MACAQUE MONKEYS
AB Social communication relies on the integration of auditory and visual information, which are present in faces and vocalizations. Evidence suggests that the integration of information from multiple sources enhances perception compared with the processing of a unimodal stimulus. Our previous studies demonstrated that single neurons in the ventrolateral prefrontal cortex (VLPFC) of the rhesus monkey (Macaca mulatta) respond to and integrate conspecific vocalizations and their accompanying facial gestures. We were therefore interested in how VLPFC neurons respond differentially to matching (congruent) and mismatching (incongruent) faces and vocalizations. We recorded VLPFC neurons during the presentation of movies with congruent or incongruent species-specific facial gestures and vocalizations as well as their unimodal components. Recordings showed that while many VLPFC units are multisensory and respond to faces, vocalizations, or their combination, a subset of neurons showed a significant change in neuronal activity in response to incongruent versus congruent vocalization movies. Among these neurons, we typically observed incongruent suppression during the early stimulus period and incongruent enhancement during the late stimulus period. Incongruent-responsive VLPFC neurons were both bimodal and nonlinear multisensory, fostering their ability to respond to changes in either modality of a face-vocalization stimulus. These results demonstrate that ventral prefrontal neurons respond to changes in either modality of an audiovisual stimulus, which is important in identity processing and for the integration of multisensory communication information.
C1 [Diehl, Maria M.] Univ Puerto Rico, Sch Med, Dept Psychiat, San Juan, PR 00936 USA.
[Romanski, Lizabeth M.] Univ Rochester, Sch Med & Dent, Dept Neurobiol & Anat, Rochester, NY 14642 USA.
RP Romanski, LM (reprint author), Univ Rochester, Sch Med, Dept Neurobiol & Anat, Rochester, NY 14642 USA.
EM Liz_romanski@urmc.rochester.edu
FU National Institutes of Health [DC004845]; Center for Navigation and
Communication Sciences [(P30) DC 005409]; Center for Visual Sciences
[(P30) EY001319]
FX This work was supported by the National Institutes of Health DC004845
(L.M.R.), Center for Navigation and Communication Sciences (P30) DC
005409, and Center for Visual Sciences (P30) EY001319. We thank Mark
Diltz, Jaewon Hwang, John Housel, and Christopher Louie for technical
assistance and Bethany Plakke for critical comments.
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NR 62
TC 2
Z9 2
PU SOC NEUROSCIENCE
PI WASHINGTON
PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA
SN 0270-6474
J9 J NEUROSCI
JI J. Neurosci.
PD AUG 20
PY 2014
VL 34
IS 34
BP 11233
EP 11243
DI 10.1523/JNEUROSCI.5168-13.2014
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AO4MI
UT WOS:000341312600009
PM 25143605
ER
PT J
AU Demyanenko, GP
Mohan, V
Zhang, XY
Brennaman, LH
Dharbal, KES
Tran, TS
Manis, PB
Maness, PF
AF Demyanenko, Galina P.
Mohan, Vishwa
Zhang, Xuying
Brennaman, Leann H.
Dharbal, Katherine E. S.
Tran, Tracy S.
Manis, Paul B.
Maness, Patricia F.
TI Neural Cell Adhesion Molecule NrCAM Regulates Semaphorin 3F-Induced
Dendritic Spine Remodeling
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE cell adhesion; cortical pyramidal neurons; NrCAM; semaphorin; spine
morphogenesis; visual cortex
ID PRIMARY VISUAL-CORTEX; AUTISM SPECTRUM DISORDERS; NR-CAM; HOMOPHILIC
INTERACTION; THALAMOCORTICAL AXONS; FUNCTIONAL PLASTICITY; ASSOCIATION
ANALYSIS; MOUSE; EXPERIENCE; BRAIN
AB Neuron-glial related cell adhesion molecule (NrCAM) is a regulator of axon growth and repellent guidance, and has been implicated in autism spectrum disorders. Here a novel postsynaptic role for NrCAM in Semaphorin3F (Sema3F)-induced dendritic spine remodeling was identified in pyramidal neurons of the primary visual cortex (V1). NrCAM localized to dendritic spines of star pyramidal cells in postnatal V1, where it was coexpressed with Sema3F. NrCAM deletion in mice resulted in elevated spine densities on apical dendrites of star pyramidal cells at both postnatal and adult stages, and electron microscopy revealed increased numbers of asymmetric synapses in layer 4 of V1. Whole-cell recordings in cortical slices from NrCAM-null mice revealed increased frequency of mEPSCs in star pyramidal neurons. Recombinant Sema3F-Fc protein induced spine retraction on apical dendrites of wild-type, but not NrCAM-null cortical neurons in culture, while re-expression ofNrCAM rescued the spine retraction response. NrCAM formed a complex in brain with Sema3F receptor subunits Neuropilin-2 (Npn-2) and PlexinA3 (PlexA3) through an Npn-2-binding sequence (TARNER) in the extracellular Igl domain. A trans heterozygous genetic interaction test demonstrated that Sema3F and NrCAM pathways interacted in vivo to regulate spine density in star pyramidal neurons. These findings reveal NrCAM as a novel postnatal regulator of dendritic spine density in cortical pyramidal neurons, and an integral component of the Sema3F receptor complex. The results implicate NrCAM as a contributor to excitatory/inhibitory balance in neocortical circuits.
C1 [Demyanenko, Galina P.; Mohan, Vishwa; Zhang, Xuying; Brennaman, Leann H.; Dharbal, Katherine E. S.; Maness, Patricia F.] Univ N Carolina, Sch Med, Dept Biochem & Biophys, Chapel Hill, NC 27599 USA.
[Manis, Paul B.] Univ N Carolina, Sch Med, Dept Otolaryngol Head & Neck Surg, Chapel Hill, NC 27599 USA.
[Manis, Paul B.] Univ N Carolina, Sch Med, Dept Cell & Mol Physiol, Chapel Hill, NC 27599 USA.
[Tran, Tracy S.] Rutgers State Univ, Dept Biol Sci, Newark, NJ 07102 USA.
RP Maness, PF (reprint author), Univ N Carolina, Sch Med, Dept Biochem & Biophys, Campus Box 7260, Chapel Hill, NC 27599 USA.
EM srclab@med.unc.edu
FU National Institutes of Health (NIH) [R21MH098138, R01MH101605]; Charles
and Johanna Busch Biomedical Award; University of North Carolina (UNC)
[NIH P30NS045892]
FX This work was supported by National Institutes of Health (NIH) grants
R21MH098138 and R01MH101605 (P.F.M.) and R01DC009809 (P.B.M.), Charles
and Johanna Busch Biomedical Award (T.S.T.), and NIH P30NS045892 for
University of North Carolina (UNC) Neuroscience Research Center core
support. We gratefully acknowledge Dirk Montag (Leibniz Institute for
Neurobiology, Magdeburg, Germany) for the NrCAM plasmid, Takeshi Sakurai
and Carol Mason (Columbia University) for probes, Alex Kolodkin and
David Ginty for Sema3F mice and probes, and Ben Philpot and Thorfinn
Riday (UNC Chapel Hill) for advice on monocular deprivation. We are also
grateful to Sam George, Eli Darnell, Jasbir Dalal, Sneha Venkatramen,
and Erin Moore for experimental assistance.
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NR 78
TC 0
Z9 0
PU SOC NEUROSCIENCE
PI WASHINGTON
PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA
SN 0270-6474
J9 J NEUROSCI
JI J. Neurosci.
PD AUG 20
PY 2014
VL 34
IS 34
BP 11274
EP 11287
DI 10.1523/JNEUROSCI.1774-14.2014
PG 14
WC Neurosciences
SC Neurosciences & Neurology
GA AO4MI
UT WOS:000341312600012
PM 25143608
ER
PT J
AU Matthes, M
Preusse, M
Zhang, JZ
Schechter, J
Mayer, D
Lentes, B
Theis, F
Prakash, N
Wurst, W
Trumbach, D
AF Matthes, Michaela
Preusse, Martin
Zhang, Jingzhong
Schechter, Julia
Mayer, Daniela
Lentes, Bernd
Theis, Fabian
Prakash, Nilima
Wurst, Wolfgang
Truembach, Dietrich
TI Mouse IDGenes: a reference database for genetic interactions in the
developing mouse brain
SO DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION
LA English
DT Article
ID DOPAMINE NEURON DEVELOPMENT; SEGMENT POLARITY NETWORK; BETA-CATENIN;
EXPRESSION PATTERNS; HINDBRAIN MALFORMATIONS; SIGNALING PATHWAY; ISTHMIC
ORGANIZER; WNT/BETA-CATENIN; SPINAL-CORD; CYCLIN D1
AB The study of developmental processes in the mouse and other vertebrates includes the understanding of patterning along the anterior-posterior, dorsal-ventral and medial-lateral axis. Specifically, neural development is also of great clinical relevance because several human neuropsychiatric disorders such as schizophrenia, autism disorders or drug addiction and also brain malformations are thought to have neurodevelopmental origins, i.e. pathogenesis initiates during childhood and adolescence. Impacts during early neurodevelopment might also predispose to late-onset neurodegenerative disorders, such as Parkinson's disease. The neural tube develops from its precursor tissue, the neural plate, in a patterning process that is determined by compartmentalization into morphogenetic units, the action of local signaling centers and a well-defined and locally restricted expression of genes and their interactions. While public databases provide gene expression data with spatio-temporal resolution, they usually neglect the genetic interactions that govern neural development. Here, we introduce Mouse IDGenes, a reference database for genetic interactions in the developing mouse brain. The database is highly curated and offers detailed information about gene expressions and the genetic interactions at the developing mid-/hindbrain boundary. To showcase the predictive power of interaction data, we infer new Wnt/beta-catenin target genes by machine learning and validate one of them experimentally. The database is updated regularly. Moreover, it can easily be extended by the research community. Mouse IDGenes will contribute as an important resource to the research on mouse brain development, not exclusively by offering data retrieval, but also by allowing data input.
C1 [Matthes, Michaela; Zhang, Jingzhong; Schechter, Julia; Mayer, Daniela; Lentes, Bernd; Prakash, Nilima; Wurst, Wolfgang; Truembach, Dietrich] German Res Ctr Environm Hlth, Inst Dev Genet, Helmholtz Zentrum Munchen, D-85764 Neuherberg, Germany.
[Matthes, Michaela] Tech Univ Munchen Weihenstephan, Lehrstuhl Genet, D-85354 Freising Weihenstephan, Germany.
[Preusse, Martin] German Res Ctr Environm Hlth, Inst Diabet & Regenerat Res, Helmholtz Zentrum Munchen, D-85764 Neuherberg, Germany.
[Preusse, Martin; Theis, Fabian] German Res Ctr Environm Hlth, Inst Computat Biol, Helmholtz Zentrum Munchen, D-85764 Neuherberg, Germany.
[Theis, Fabian] Tech Univ Munich, Zentrum Math, D-85747 Garching, Germany.
[Wurst, Wolfgang; Truembach, Dietrich] Max Planck Inst Psychiat, D-80804 Munich, Germany.
[Wurst, Wolfgang] Deutsch Zentrum Neurodegenerat Erkrankungen eV DZ, Standort Munchen, D-80336 Munich, Germany.
[Wurst, Wolfgang] Tech Univ Munchen Weihenstephan, Helmholtz Zentrum Munchen, Lehrstuhl Entwicklungsgenet, D-85764 Neuherberg, Germany.
[Wurst, Wolfgang] Univ Munich, Adolf Butenandt Inst, Munich Cluster Syst Neurol SyNergy, D-80336 Munich, Germany.
RP Trumbach, D (reprint author), German Res Ctr Environm Hlth, Inst Dev Genet, Helmholtz Zentrum Munchen, Ingolstadter Landstr 1, D-85764 Neuherberg, Germany.
EM nilima.prakash@helmholtz-muenchen.de; wurst@helmholtz-muenchen.de;
dietrich.truembach@helmholtz-muenchen.de
FU EU [FP7-Health-F4-2010-242129]; 'Bundesministerium fur Bildung und
Forschung' in the consortium 'From Disease Genes to Protein Pathways'
[FKZ01GS0858]; Helmholtz Zentrum Munchen - Deutsches Forschungszentrum
fur Gesundheit und Umwelt (HMGU); 'Deutsche Forschungsgemeinschaft'
('German Research Foundation') [EXC 1010]
FX The 'Deutsche Forschungsgemeinschaft' ('German Research Foundation')
within the framework of the Munich Cluster for Systems Neurology EXC
1010 SyNergy]; the EU grant 'Systems Biology of Stem Cells and
Reprogramming' [FP7-Health-F4-2010-242129]; the 'Bundesministerium fur
Bildung und Forschung' in the consortium 'From Disease Genes to Protein
Pathways' [FKZ01GS0858]. Funding for open access charge: Helmholtz
Zentrum Munchen - Deutsches Forschungszentrum fur Gesundheit und Umwelt
(HMGU).
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NR 70
TC 0
Z9 0
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1758-0463
J9 DATABASE-OXFORD
JI Database
PD AUG 20
PY 2014
AR bau083
DI 10.1093/database/bau083
PG 16
WC Mathematical & Computational Biology
SC Mathematical & Computational Biology
GA AN5KF
UT WOS:000340628900001
ER
PT J
AU Krawczyk, DC
Kandalaft, MR
Didehbani, N
Allen, TT
McClelland, MM
Tamminga, CA
Chapman, SB
AF Krawczyk, Daniel C.
Kandalaft, Michelle R.
Didehbani, Nyaz
Allen, Tandra T.
McClelland, M. Michelle
Tamminga, Carol A.
Chapman, Sandra B.
TI An investigation of reasoning by analogy in schizophrenia and autism
spectrum disorder
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE analogy; reasoning; schizophrenia; autism spectrum disorder; distraction
ID HIGH-FUNCTIONING AUTISM; WORKING-MEMORY; PREFRONTAL CORTEX; RELATIONAL
INTEGRATION; ASPERGERS SYNDROME; SOCIAL COGNITION; MORAL JUDGMENT;
SIMILARITY; MIND; CHILDREN
AB Relational reasoning ability relies upon by both cognitive and social factors. We compared analogical reasoning performance in healthy controls (HC) to performance in individuals with Autism Spectrum Disorder (ASD), and individuals with schizophrenia (SZ). The experimental task required participants to find correspondences between drawings of scenes. Participants were asked to infer which item within one scene best matched a relational item within the second scene. We varied relational complexity, presence of distraction, and type of objects in the analogies (living or non-living items). We hypothesized that the cognitive differences present in SZ would reduce relational inferences relative to ASD and HC. We also hypothesized that both SZ and ASD would show lower performance on living item problems relative to HC due to lower social function scores. Overall accuracy was higher for HC relative to SZ, consistent with prior research. Across groups, higher relational complexity reduced analogical responding, as did the presence of non-living items. Separate group analyses revealed that the ASD group was less accurate at making relational inferences in problems that involved mainly non-living items and when distractors were present. The SZ group showed differences in problem type similar to the ASD group. Additionally, we found significant correlations between social cognitive ability and analogical reasoning, particularly for the SZ group. These results indicate that differences in cognitive and social abilities impact the ability to infer analogical correspondences along with numbers of relational elements and types of objects present in the problems.
C1 [Krawczyk, Daniel C.; Kandalaft, Michelle R.; Didehbani, Nyaz; Allen, Tandra T.; McClelland, M. Michelle; Chapman, Sandra B.] Univ Texas Dallas, Sch Behav & Brain Sci, Ctr BrainHlth, Dallas, TX 75235 USA.
[Krawczyk, Daniel C.; Kandalaft, Michelle R.; Tamminga, Carol A.] Univ Texas SW Med Ctr Dallas, Dept Psychiat, Dallas, TX 75390 USA.
RP Krawczyk, DC (reprint author), Univ Texas Dallas, Sch Behav & Brain Sci, Ctr BrainHlth, 2200 Mockingbird Lane, Dallas, TX 75235 USA.
EM daniel.krawczyk@utdallas.edu
FU Lattner Foundation; Crystal Charity Ball; Wacker Foundation
FX We thank Lindsey Richland for contributions to the development of the
task. We also thank Greg Allen, Candace Mills, Mujeeb Shad, Mette
Posamentier, Jim Bartlett, and John Hart for helpful comments and
suggestions. We thank Anne Marie Preston, Cassandra Adams, and Karen
Osborne for their contributions to the data collection and
neuropsychological testing. This work was supported by funding from the
Lattner Foundation, Crystal Charity Ball, and the Wacker Foundation.
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NR 63
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD AUG 20
PY 2014
VL 8
AR 517
DI 10.3389/fnhum.2014.00517
PG 10
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AN6YY
UT WOS:000340746100001
PM 25191240
ER
PT J
AU Germain, ND
Chen, PF
Plocik, AM
Glatt-Deeley, H
Brown, J
Fink, JJ
Bolduc, KA
Robinson, TM
Levine, ES
Reiter, LT
Graveley, BR
Lalande, M
Chamberlain, SJ
AF Germain, Noelle D.
Chen, Pin-Fang
Plocik, Alex M.
Glatt-Deeley, Heather
Brown, Judith
Fink, James J.
Bolduc, Kaitlyn A.
Robinson, Tiwanna M.
Levine, Eric S.
Reiter, Lawrence T.
Graveley, Brenton R.
Lalande, Marc
Chamberlain, Stormy J.
TI Gene expression analysis of human induced pluripotent stem cell-derived
neurons carrying copy number variants of chromosome 15q11-q13.1
SO MOLECULAR AUTISM
LA English
DT Article
DE UBE3A; autism; induced pluripotent stem cells; 15q duplication; Angelman
syndrome
ID METHYLATION-SPECIFIC PCR; ANGELMAN SYNDROME; PRADER-WILLI; 15Q
DUPLICATION; HUMAN GENOME; AUTISM; PROTEIN; MITHRAMYCIN; BRAIN;
TRANSCRIPTION
AB Background: Duplications of the chromosome 15q11-q13.1 region are associated with an estimated 1 to 3% of all autism cases, making this copy number variation (CNV) one of the most frequent chromosome abnormalities associated with autism spectrum disorder (ASD). Several genes located within the 15q11-q13.1 duplication region including ubiquitin protein ligase E3A (UBE3A), the gene disrupted in Angelman syndrome (AS), are involved in neural function and may play important roles in the neurobehavioral phenotypes associated with chromosome 15q11-q13.1 duplication (Dup15q) syndrome.
Methods: We have generated induced pluripotent stem cell (iPSC) lines from five different individuals containing CNVs of 15q11-q13.1. The iPSC lines were differentiated into mature, functional neurons. Gene expression across the 15q11-q13.1 locus was compared among the five iPSC lines and corresponding iPSC-derived neurons using quantitative reverse transcription PCR (qRT-PCR). Genome-wide gene expression was compared between neurons derived from three iPSC lines using mRNA-Seq.
Results: Analysis of 15q11-q13.1 gene expression in neurons derived from Dup15q iPSCs reveals that gene copy number does not consistently predict expression levels in cells with interstitial duplications of 15q11-q13.1. mRNA-Seq experiments show that there is substantial overlap in the genes differentially expressed between 15q11-q13.1 deletion and duplication neurons, Finally, we demonstrate that UBE3A transcripts can be pharmacologically rescued to normal levels in iPSC-derived neurons with a 15q11-q13.1 duplication.
Conclusions: Chromatin structure may influence gene expression across the 15q11-q13.1 region in neurons. Genome-wide analyses suggest that common neuronal pathways may be disrupted in both the Angelman and Dup15q syndromes. These data demonstrate that our disease-specific stem cell models provide a new tool to decipher the underlying cellular and genetic disease mechanisms of ASD and may also offer a pathway to novel therapeutic intervention in Dup15q syndrome.
C1 [Germain, Noelle D.; Chen, Pin-Fang; Plocik, Alex M.; Glatt-Deeley, Heather; Graveley, Brenton R.; Lalande, Marc; Chamberlain, Stormy J.] Univ Connecticut, Ctr Hlth, Dept Genet & Dev Biol, Farmington, CT 06032 USA.
[Brown, Judith] Univ Connecticut, Dept Mol & Cell Biol, Chromosome Core, Storrs, CT 06269 USA.
[Brown, Judith] Univ Connecticut, Dept Allied Hlth Sci, Storrs, CT 06269 USA.
[Fink, James J.; Bolduc, Kaitlyn A.; Robinson, Tiwanna M.; Levine, Eric S.] Univ Connecticut, Ctr Hlth, Dept Neurosci, Farmington, CT 06030 USA.
[Reiter, Lawrence T.] Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA.
[Graveley, Brenton R.] Univ Connecticut, Inst Syst Genom, Farmington, CT 06030 USA.
RP Chamberlain, SJ (reprint author), Univ Connecticut, Ctr Hlth, Dept Genet & Dev Biol, 400 Farmington Ave, Farmington, CT 06032 USA.
EM chamberlain@uchc.edu
FU NIH/NICHD [5R01HD068730-02]; Raymond and Beverly Sackler Foundation;
Prutting fund; Autism Speaks
FX The authors would like to thank the members of the Chamberlain, Lalande,
Graveley, and Levine labs for helpful discussions. This work was funded
by NIH/NICHD grant 5R01HD068730-02 (S.J.C), the Raymond and Beverly
Sackler Foundation (S.J.C), the Prutting fund (M.L.), and Autism Speaks
(E.S.L.).
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NR 54
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD AUG 20
PY 2014
VL 5
AR 44
DI 10.1186/2040-2392-5-44
PG 19
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AO2NB
UT WOS:000341159400001
PM 25694803
ER
PT J
AU Gogolla, N
Takesian, AE
Feng, G
Fagiolini, M
Hensch, TK
AF Gogolla, Nadine
Takesian, Anne E.
Feng, Guoping
Fagiolini, Michela
Hensch, Takao K.
TI Sensory Integration in Mouse Insular Cortex Reflects GABA Circuit
Maturation
SO NEURON
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; PLUS TF/J MICE; CRITICAL-PERIOD;
VISUAL-CORTEX; MULTISENSORY INTEGRATION; GASTROINTESTINAL PROBLEMS;
FUNCTIONAL CONNECTIVITY; NEURAL SYSTEMS; AUDITORY FIELD; MUTANT MICE
AB Insular cortex (IC) contributes to a variety of complex brain functions, such as communication, social behavior, and self-awareness through the integration of sensory, emotional, and cognitive content. How the IC acquires its integrative properties remains unexplored. We compared the emergence of multisensory integration (MSI) in the IC of behaviorally distinct mouse strains. While adult C57BL/6 mice exhibited robust MSI, this capacity was impaired in the inbred BTBR T+tf/J mouse model of idiopathic autism. The deficit reflected weakened gamma-aminobutyric acid (GABA) circuits and compromised postnatal pruning of cross-modal input. Transient pharmacological enhancement by diazepam in BTBR mice during an early sensitive period rescued inhibition and integration in the adult IC. Moreover, impaired MSI was common across three other monogenic models (GAD65, Shank3, and Mecp2 knockout mice) displaying behavioral phenotypes and parvalbumin-circuit abnormalities. Our findings offer developmental insight into a key neural circuit relevant to neuropsychiatric conditions like schizophrenia and autism.
C1 [Gogolla, Nadine; Hensch, Takao K.] Harvard Univ, Dept Mol & Cellular Biol, Ctr Brain Sci, Cambridge, MA 02138 USA.
[Takesian, Anne E.; Fagiolini, Michela; Hensch, Takao K.] Harvard Univ, Sch Med, Boston Childrens Hosp, Dept Neurol,FM Kirby Neurobiol Ctr, Boston, MA 02115 USA.
[Takesian, Anne E.; Hensch, Takao K.] Canadian Inst Adv Res, Toronto, ON M5G 1Z8, Canada.
[Feng, Guoping] MIT, McGovern Inst Brain Res, Dept Brain & Cognit Sci, Cambridge, MA 02139 USA.
RP Hensch, TK (reprint author), Harvard Univ, Dept Mol & Cellular Biol, Ctr Brain Sci, 52 Oxford St, Cambridge, MA 02138 USA.
EM hensch@mcb.harvard.edu
FU National Institute of General Medical Sciences (NIGMS) [DP1OD003699];
National Institute of Mental Health (NIMH) [1P50MH094271]; Human
Frontier Science Program (HFSP); Charles King Trust/Charles Hood
Foundation; Nancy Lurie Marks Foundation
FX We thank M. Nakamura for animal care, M. Ho for help with behavioral
tests and T. K. H. laboratory members for feedback and discussion.
Funded by the National Institute of General Medical Sciences (NIGMS)
(DP1OD003699 to T. K. H.) and the National Institute of Mental Health
(NIMH) (1P50MH094271 to T. K. H.), as well as postdoctoral fellowships
from the Human Frontier Science Program (HFSP) and Charles King
Trust/Charles Hood Foundation (to N.G.) and the Nancy Lurie Marks
Foundation (to A.E.T.).
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NR 70
TC 10
Z9 10
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0896-6273
EI 1097-4199
J9 NEURON
JI Neuron
PD AUG 20
PY 2014
VL 83
IS 4
BP 894
EP 905
DI 10.1016/j.neuron.2014.06.033
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AN3ID
UT WOS:000340479600016
PM 25088363
ER
PT J
AU Clark, CM
Chiu, CG
Diaz, RL
Goghari, VM
AF Clark, Cameron M.
Chiu, Carina G.
Diaz, Ruth L.
Goghari, Vina M.
TI Intact anger recognition in depression despite aberrant visual facial
information usage
SO JOURNAL OF AFFECTIVE DISORDERS
LA English
DT Article
DE Depression; Anxiety; Anger; Emotion recognition; Bubbles task
ID MAJOR DEPRESSION; EMOTION PERCEPTION; AMYGDALA DAMAGE; EXPRESSION;
DISORDER; SCHIZOPHRENIA; BUBBLES; MEMORY; DEFICITS; ANXIETY
AB Background: Previous literature has indicated abnormalities in facial emotion recognition abilities, as well as deficits in basic visual processes in major depression. However, the literature is unclear on a number of important factors including whether or not these abnormalities represent deficient or enhanced emotion recognition abilities compared to control populations, and the degree to which basic visual deficits might impact this process.
Methods: The present study investigated emotion recognition abilities for angry versus neutral facial expressions in a sample of undergraduate students with Beck Depression Inventory-II (BDI-II) scores indicative of moderate depression (i.e. >= 20), compared to matched low-BDI-II score (i.e. <= 2) controls via the Bubbles Facial Emotion Perception Task.
Results: Results indicated unimpaired behavioural performance in discriminating angry from neutral expressions in the high depressive symptoms group relative to the minimal depressive symptoms group, despite evidence of an abnormal pattern of visual facial information usage.
Limitations: The generalizability of the current findings is limited by the highly structured nature of the facial emotion recognition task used, as well as the use of an analog sample undergraduates scoring high in self-rated symptoms of depression rather than a clinical sample.
Conclusions: Our findings suggest that basic visual processes are involved in emotion recognition abnormalities in depression, demonstrating consistency with the emotion recognition literature in other psychopathologies (e.g. schizophrenia, autism, social anxiety). Future research should seek to replicate these findings in clinical populations with major depression, and assess the association between aberrant face gaze behaviours and symptom severity and social functioning. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Clark, Cameron M.; Chiu, Carina G.; Diaz, Ruth L.; Goghari, Vina M.] Univ Calgary, Dept Psychol, Calgary, AB T2N 1N4, Canada.
RP Goghari, VM (reprint author), Univ Calgary, Dept Psychol, 2500 Univ Dr NW, Calgary, AB T2N 1N4, Canada.
EM vmgoghar@ucalgary.ca
FU Canadian Institutes of Health Research; University of Calgary;
University Research Grant Committee; Canada Vanier Graduate Scholarship;
Alberta Innovates Health Solutions studentship; Canadian Institutes of
Health Research New Investigator Award
FX We thank Frederic Gosselin for sharing his Bubbles task with our
research group. Data collection was supported by a Canadian Institutes
of Health Research operating grant, a University of Calgary Seed Grant,
and a University Research Grant Committee Starter Grant. Cameron M.
Clark was supported by a Canada Vanier Graduate Scholarship, as well as
an Alberta Innovates Health Solutions studentship. Vina Goghari was
supported by a Canadian Institutes of Health Research New Investigator
Award.
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PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-0327
EI 1573-2517
J9 J AFFECT DISORDERS
JI J. Affect. Disord.
PD AUG 20
PY 2014
VL 165
BP 196
EP 202
DI 10.1016/j.jad.2014.04.065
PG 7
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AJ7FF
UT WOS:000337861900031
PM 24882200
ER
PT J
AU Sundquist, J
Sundquist, K
Ji, JG
AF Sundquist, Jan
Sundquist, Kristina
Ji, Jianguang
TI Autism and attention-deficit/hyperactivity disorder among individuals
with a family history of alcohol use disorders
SO ELIFE
LA English
DT Article
ID DE-NOVO MUTATIONS; SPECTRUM DISORDERS; AGE; DISEASE; RISK; PREVALENCE;
REGISTER; EXPOSURE; CHILDREN; TRENDS
AB Recent studies suggest de novo mutations may involve the pathogenesis of autism and attention-deficit/hyperactivity disorder (ADHD). Based on the evidence that excessive alcohol consumption may be associated with an increased rate of de novo mutations in germ cells (sperms or eggs), we examine here whether the risks of autism and ADHD are increased among individuals with a family history of alcohol use disorders (AUDs). The standardized incidence ratios (SIRs) of autism and ADHD among individuals with a biological parental history of AUDs were 1.39 (95% CI 1.34-1.44) and 2.19 (95% CI 2.15-2.23), respectively, compared to individuals without an affected parent. Among offspring whose parents were diagnosed with AUDs before their birth, the corresponding risks were 1.46 (95% CI 1.36-1.58) and 2.70 (95% CI 2.59-2.81), respectively. Our study calls for extra surveillance for children with a family history of AUDs, and further studies examining the underlying mechanisms are needed.
C1 [Sundquist, Jan; Sundquist, Kristina; Ji, Jianguang] Lund Univ, Ctr Primary Hlth Care Res, Malmo, Sweden.
[Sundquist, Jan; Sundquist, Kristina] Stanford Univ, Sch Med, Stanford Prevent Res Ctr, Stanford, CA USA.
RP Sundquist, J (reprint author), Lund Univ, Ctr Primary Hlth Care Res, Malmo, Sweden.
EM sundquist@med.lu.se; jianguang.ji@med.lu.se
RI Ji, Jianguang/E-9579-2011
OI Ji, Jianguang/0000-0003-0324-9496
FU Vetenskapsradet [2012-2378]; National Institute of Drug Abuse [R01
DA030005]
FX Vetenskapsradet 2012-2378 Jan SundquistNational Institute of Drug Abuse
R01 DA030005 Jan SundquistThe funders had no role in study design, data
collection and interpretation, or the decision to submit the work for
publication.
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Z9 0
PU ELIFE SCIENCES PUBLICATIONS LTD
PI CAMBRIDGE
PA SHERATON HOUSE, CASTLE PARK, CAMBRIDGE, CB3 0AX, ENGLAND
SN 2050-084X
J9 ELIFE
JI eLife
PD AUG 19
PY 2014
VL 3
AR e02917
DI 10.7554/eLife.02917
PG 8
WC Biology
SC Life Sciences & Biomedicine - Other Topics
GA AO3RU
UT WOS:000341253500002
PM 25139954
ER
PT J
AU Takeuchi, H
Taki, Y
Sekiguchi, A
Nouchi, R
Kotozaki, Y
Nakagawa, S
Miyauchi, CM
Iizuka, K
Yokoyama, R
Shinada, T
Yamamoto, Y
Hanawa, S
Araki, T
Hashizume, H
Sassa, Y
Kawashima, R
AF Takeuchi, Hikaru
Taki, Yasuyuki
Sekiguchi, Atsushi
Nouchi, Rui
Kotozaki, Yuka
Nakagawa, Seishu
Miyauchi, Carlos M.
Iizuka, Kunio
Yokoyama, Ryoichi
Shinada, Takamitsu
Yamamoto, Yuki
Hanawa, Sugiko
Araki, Tsuyoshi
Hashizume, Hiroshi
Sassa, Yuko
Kawashima, Ryuta
TI Creativity measured by divergent thinking is associated with two axes of
autistic characteristics
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE creativity; divergent thinking; empathizing; systemizing; D score;
autistic characteristics
ID FALSE DISCOVERY RATE; VOXEL-BASED MORPHOMETRY; HIGH-FUNCTIONING AUTISM;
WHITE-MATTER STRUCTURES; NORMAL SEX-DIFFERENCES; EMPATHY QUOTIENT EQ;
SYSTEMATIZING QUOTIENT; ASPERGER-SYNDROME; EMOTIONAL INTELLIGENCE;
EXECUTIVE FUNCTION
AB Creativity generally involves the conception of original and valuable ideas, and it plays a key role in scientific achievement. Moreover, individuals with autistic spectrum conditions (ASCs) tend to achieve in scientific fields. Recently, it has been proposed that low empathizing and high systemizing characterize individuals with ASCs. Empathizing is the drive to identify the mental status of other individuals and respond to it with an appropriate emotion; systemizing is the drive to analyze a system. It has been proposed that this higher systemizing underlies the scientific achievement of individuals with ASCs, suggesting the possible positive association between creativity and systemizing. However, previous findings on the association between ASCs and creativity were conflicting. Conversely, previous studies have suggested an association between prosocial traits and creativity, indicating the possible association between empathizing and creativity. Here we investigated the association between creativity measured by divergent thinking (CDT) and empathizing, systemizing, and the discrepancy between systemizing and empathizing, which is called D score. CDT was measured using the S-A creativity test. The individual degree of empathizing (empathizing quotient, EQ) and that of systemizing (systemizing quotient, SQ), and D score was measured via a validated questionnaire (SQ and EQ questionnaires). The results showed that higher CDT was significantly and positively correlated with both the score of EQ and the score of SQ but not with D score. These results suggest that CDT is positively associated with one of the characteristics of ASCs (analytical aspects), while exhibiting a negative association with another (lower social aspects). Therefore, the discrepancy between systemizing and empathizing, which is strongly associated with autistic tendency, was not associated with CDT.
C1 [Takeuchi, Hikaru; Taki, Yasuyuki; Hashizume, Hiroshi; Sassa, Yuko; Kawashima, Ryuta] Tohoku Univ, Inst Dev Aging & Canc, Div Dev Cognit Neurosci, Sendai, Miyagi 9808575, Japan.
[Taki, Yasuyuki] Tohoku Univ, Div Med Neuroimaging Anal, Dept Community Med Supports, Tohoku Med Megabank Org, Sendai, Miyagi 9808575, Japan.
[Taki, Yasuyuki; Sekiguchi, Atsushi] Tohoku Univ, Dept Radiol & Nucl Med, Inst Dev Aging & Canc, Sendai, Miyagi 9808575, Japan.
[Sekiguchi, Atsushi; Nakagawa, Seishu; Miyauchi, Carlos M.; Iizuka, Kunio; Yokoyama, Ryoichi; Shinada, Takamitsu; Yamamoto, Yuki; Hanawa, Sugiko; Kawashima, Ryuta] Tohoku Univ, Dept Funct Brain Imaging, Inst Dev Aging & Canc, Sendai, Miyagi 9808575, Japan.
[Nouchi, Rui] Tohoku Univ, Human & Social Response Res Div, Int Res Inst Disaster Sci, Sendai, Miyagi 9808575, Japan.
[Nouchi, Rui; Kotozaki, Yuka; Araki, Tsuyoshi; Kawashima, Ryuta] Tohoku Univ, Smart Ageing Int Res Ctr, Inst Dev Aging & Canc, Sendai, Miyagi 9808575, Japan.
[Yokoyama, Ryoichi] Japan Soc Promot Sci, Tokyo, Japan.
RP Takeuchi, H (reprint author), Tohoku Univ, Inst Dev Aging & Canc, Div Dev Cognit Neurosci, Aoba Ku, 4-1 Seiryo Cho, Sendai, Miyagi 9808575, Japan.
EM takehi@idac.tohoku.ac.jp
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NR 81
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD AUG 19
PY 2014
VL 5
AR 921
DI 10.3389/fpsyg.2014.00921
PG 8
WC Psychology, Multidisciplinary
SC Psychology
GA AO5JJ
UT WOS:000341380200001
PM 25191299
ER
PT J
AU Barua, S
Kuizon, S
Junaid, MA
AF Barua, Subit
Kuizon, Salomon
Junaid, Mohammed A.
TI Folic acid supplementation in pregnancy and implications in health and
disease
SO JOURNAL OF BIOMEDICAL SCIENCE
LA English
DT Review
DE Folic acid; DNA methylation; Epigenetic; Imprinting; Prenatal nutrition;
Neural tube defects; Autism
ID NEURAL-TUBE DEFECTS; PERICONCEPTIONAL VITAMIN SUPPLEMENTATION; CHILDHOOD
RESPIRATORY HEALTH; AUTISM SPECTRUM DISORDERS; NATIONAL BIRTH COHORT;
DOWN-SYNDROME PROJECT; DNA METHYLATION; S-ADENOSYLHOMOCYSTEINE;
FOLATE-DEFICIENCY; FETAL-GROWTH
AB Maternal exposure to dietary factors during pregnancy can influence embryonic development and may modulate the phenotype of offspring through epigenetic programming. Folate is critical for nucleotide synthesis, and preconceptional intake of dietary folic acid (FA) is credited with reduced incidences of neural tube defects in infants. While fortification of grains with FA resulted in a positive public-health outcome, concern has been raised for the need for further investigation of unintended consequences and potential health hazards arising from excessive FA intakes, especially following reports that FA may exert epigenetic effects. The objective of this article is to discuss the role of FA in human health and to review the benefits, concerns and epigenetic effects of maternal FA on the basis of recent findings that are important to design future studies.
C1 [Barua, Subit; Kuizon, Salomon; Junaid, Mohammed A.] New York State Inst Basic Res Dev Disabil, Dept Dev Biochem, Staten Isl, NY 10314 USA.
RP Barua, S (reprint author), New York State Inst Basic Res Dev Disabil, Dept Dev Biochem, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA.
EM subitbarua@gmail.com
FU March of Dimes Research Foundation [12-FY12-170]; New York State Office
for People With Developmental Disabilities
FX Financial support from the March of Dimes Research Foundation
(12-FY12-170) and the New York State Office for People With
Developmental Disabilities is gratefully acknowledged.
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NR 135
TC 2
Z9 2
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1021-7770
EI 1423-0127
J9 J BIOMED SCI
JI J. Biomed. Sci.
PD AUG 19
PY 2014
VL 21
AR 77
DI 10.1186/s12929-014-0077-z
PG 9
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AO1CW
UT WOS:000341050500002
PM 25135350
ER
PT J
AU Parker, KJ
Garner, JP
Libove, RA
Hyde, SA
Hornbeak, KB
Carson, DS
Liao, CP
Phillips, JM
Hallmayer, JF
Hardan, AY
AF Parker, Karen J.
Garner, Joseph P.
Libove, Robin A.
Hyde, Shellie A.
Hornbeak, Kirsten B.
Carson, Dean S.
Liao, Chun-Ping
Phillips, Jennifer M.
Hallmayer, Joachim F.
Hardan, Antonio Y.
TI Plasma oxytocin concentrations and OXTR polymorphisms predict social
impairments in children with and without autism spectrum disorder
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
ID RECEPTOR GENE OXTR; PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC
INTERVIEW; GENOME-WIDE; BEHAVIOR; ASSOCIATION; BRAIN; HUMANS;
NEUROPEPTIDES; VASOPRESSIN
AB The neuropeptide oxytocin (OXT) and its receptor (OXTR) regulate social functioning in animals and humans. Initial clinical research suggests that dysregulated plasma OXT concentrations and/or OXTR SNPs may be biomarkers of social impairments in autism spectrum disorder (ASD). We do not know, however, whether OXT dysregulation is unique to ASD or whether OXT biology influences social functioning more generally, thus contributing to, but not causing, ASD phenotypes. To distinguish between these possibilities, we tested in a child ASD cohort, which included unaffected siblings and unrelated neurotypical controls (ages 3-12 y; n = 193), whether plasma OXT concentrations and OXTR SNPs (i) interact to produce ASD phenotypes, (ii) exert differential phenotypic effects in ASD vs. non-ASD children, or (iii) have similar phenotypic effects independent of disease status. In the largest cohort tested to date, we found no evidence to support the OXT deficit hypothesis of ASD. Rather, OXT concentrations strongly and positively predicted theory of mind and social communication performance in all groups. Furthermore, OXT concentrations showed significant heritability between ASD-discordant siblings (h(2) = 85.5%); a heritability estimate on par with that of height in humans. Finally, carriers of the "G" allele of rs53576 showed impaired affect recognition performance and carriers of the "A" allele of rs2254298 exhibited greater global social impairments in all groups. These findings indicate that OXT biology is not uniquely associated with ASD, but instead exerts independent, additive, and highly heritable influences on individual differences in human social functioning, including the severe social impairments which characterize ASD.
C1 [Parker, Karen J.; Garner, Joseph P.; Libove, Robin A.; Hyde, Shellie A.; Hornbeak, Kirsten B.; Carson, Dean S.; Liao, Chun-Ping; Phillips, Jennifer M.; Hallmayer, Joachim F.; Hardan, Antonio Y.] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA.
[Garner, Joseph P.] Stanford Univ, Sch Med, Dept Comparat Med, Stanford, CA 94305 USA.
RP Parker, KJ (reprint author), Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA.
EM kjparker@stanford.edu
FU National Institutes of Health [RR000167]; Simons Foundation Autism
Research Initiative; Mosbacher Family Fund for Autism Research; Escher
Fund at the Silicon Valley Community Foundation; Stanford University's
Child Health Research Institute
FX We thank Wendy Kalkus, Serena Tanaka, Kaeli Yuen, and Katy Brewster for
help with blood sample collection and processing as well as data entry.
We also thank Dr. Carl Feinstein (Director of the Stanford Autism
Center) for his unwavering support of this research program.
Additionally, we thank Dr. Toni Zeigler and Dan Wittwer (University of
Wisconsin National Primate Research Center Assay Services) for
conducting the OXT assays which were made possible by National
Institutes of Health Grant RR000167. This research program was supported
by grants from the Simons Foundation Autism Research Initiative (to
K.J.P.), the Mosbacher Family Fund for Autism Research (to K.J.P.), the
Escher Fund at the Silicon Valley Community Foundation (to A.Y.H.), and
Stanford University's Child Health Research Institute (to K.J.P. and
A.Y.H.).
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NR 52
TC 4
Z9 4
PU NATL ACAD SCIENCES
PI WASHINGTON
PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA
SN 0027-8424
J9 P NATL ACAD SCI USA
JI Proc. Natl. Acad. Sci. U. S. A.
PD AUG 19
PY 2014
VL 111
IS 33
BP 12258
EP 12263
DI 10.1073/pnas.1402236111
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AN2TS
UT WOS:000340438800080
PM 25092315
ER
PT J
AU Dal Monte, O
Noble, PL
Turchi, J
Cummins, A
Averbeck, BB
AF Dal Monte, Olga
Noble, Pamela L.
Turchi, Janita
Cummins, Alex
Averbeck, Bruno B.
TI CSF and Blood Oxytocin Concentration Changes following Intranasal
Delivery in Macaque
SO PLOS ONE
LA English
DT Article
ID CEREBROSPINAL-FLUID; PLASMA OXYTOCIN; RHESUS-MONKEYS; MACACA-MULATTA;
DRUG-DELIVERY; BRAIN-BARRIER; SPINAL-CORD; VASOPRESSIN; RATS; HUMANS
AB Oxytocin (OT) in the central nervous system (CNS) influences social cognition and behavior, making it a candidate for treating clinical disorders such as schizophrenia and autism. Intranasal administration has been proposed as a possible route of delivery to the CNS for molecules like OT. While intranasal administration of OT influences social cognition and behavior, it is not well established whether this is an effective means for delivering OT to CNS targets. We administered OT or its vehicle (saline) to 15 primates (Macaca mulatta), using either intranasal spray or a nebulizer, and measured OT concentration changes in the cerebral spinal fluid (CSF) and in blood. All subjects received both delivery methods and both drug conditions. Baseline samples of blood and CSF were taken immediately before drug administration. Blood was collected every 10 minutes after administration for 40 minutes and CSF was collected once post-delivery, at the 40 minutes time point. We found that intranasal administration of exogenous OT increased concentrations in both CSF and plasma compared to saline. Both delivery methods resulted in similar elevations of OT concentration in CSF, while the changes in plasma OT concentration were greater after nasal spray compared to nebulizer. In conclusion our study provides evidence that both nebulizer and nasal spray OT administration can elevate CSF OT levels.
C1 [Dal Monte, Olga; Noble, Pamela L.; Turchi, Janita; Cummins, Alex; Averbeck, Bruno B.] NIH, NIMH, Neuropsychol Lab, Bethesda, MD 20892 USA.
[Dal Monte, Olga] Univ Turin, Dept Neuropsychol, Turin, Italy.
RP Averbeck, BB (reprint author), NIH, NIMH, Neuropsychol Lab, Bldg 10, Bethesda, MD 20892 USA.
EM averbeckbb@mail.nih.gov
FU Intramural Research Program of the NIMH/NIH/DHHS
FX This research was supported by the Intramural Research Program of the
NIMH/NIH/DHHS. The funders had no role in study design, data collection
and analysis, decision to publish, or preparation of the manuscript.
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Bahn, GH
AF Kim, Ji-Woon
Seung, Hana
Kwon, Kyung Ja
Ko, Mee Jung
Lee, Eun Joo
Oh, Hyun Ah
Choi, Chang Soon
Kim, Ki Chan
Gonzales, Edson Luck
You, Jueng Soo
Choi, Dong-Hee
Lee, Jongmin
Han, Seol-Heui
Yang, Sung Min
Cheong, Jae Hoon
Shin, Chan Young
Bahn, Geon Ho
TI Subchronic Treatment of Donepezil Rescues Impaired Social, Hyperactive,
and Stereotypic Behavior in Valproic Acid-Induced Animal Model of Autism
SO PLOS ONE
LA English
DT Article
ID BTBR-T+TF/J MICE; MOUSE MODEL; SPECTRUM DISORDERS; ALZHEIMERS-DISEASE;
NICOTINIC RECEPTORS; TRANSGENIC MICE; RATS; ACETYLCHOLINE; DEFICITS;
MEMORY
AB Autism spectrum disorder (ASD) is a group of pervasive developmental disorders with core symptoms such as sociability deficit, language impairment, and repetitive/restricted behaviors. Although worldwide prevalence of ASD has been increased continuously, therapeutic agents to ameliorate the core symptoms especially social deficits, are very limited. In this study, we investigated therapeutic potential of donepezil for ASD using valproic acid-induced autistic animal model (VPA animal model). We found that prenatal exposure of valproic acid (VPA) induced dysregulation of cholinergic neuronal development, most notably the up-regulation of acetylcholinesterase (AChE) in the prefrontal cortex of affected rat and mouse offspring. Similarly, differentiating cortical neural progenitor cell in culture treated with VPA showed increased expression of AChE in vitro. Chromatin precipitation experiments revealed that acetylation of histone H3 bound to AChE promoter region was increased by VPA. In addition, other histone deacetyalse inhibitors (HDACIs) such as trichostatin A and sodium butyrate also increased the expression of AChE in differentiating neural progenitor cells suggesting the essential role of HDACIs in the regulation of AChE expression. For behavioral analysis, we injected PBS or donepezil (0.3 mg/kg) intraperitoneally to control and VPA mice once daily from postnatal day 14 all throughout the experiment. Subchronic treatment of donepezil improved sociability and prevented repetitive behavior and hyperactivity of VPA-treated mice offspring. Taken together, these results provide evidence that dysregulation of ACh system represented by the up-regulation of AChE may serve as an effective pharmacological therapeutic target against autistic behaviors in VPA animal model of ASD, which should be subjected for further investigation to verify the clinical relevance.
C1 [Kim, Ji-Woon; Seung, Hana; Ko, Mee Jung; Lee, Eun Joo; Oh, Hyun Ah; Choi, Chang Soon; Kim, Ki Chan; Gonzales, Edson Luck; You, Jueng Soo; Choi, Dong-Hee; Lee, Jongmin; Han, Seol-Heui; Yang, Sung Min; Shin, Chan Young] Konkuk Univ, Sch Med, Dept Neurosci, Seoul, South Korea.
[Kwon, Kyung Ja] Konkuk Univ, Ctr Res Neurosci, Inst Biomed Sci & Technol, Seoul, South Korea.
[Cheong, Jae Hoon] Sahmyook Univ, Coll Pharm, Dept Pharmacol, Seoul, South Korea.
[Bahn, Geon Ho] Kyung Hee Univ, Sch Med, Dept Neuropsychiat, Seoul, South Korea.
RP Shin, CY (reprint author), Konkuk Univ, Sch Med, Dept Neurosci, Seoul, South Korea.
EM chanyshin@kku.ac.k; mompeian@khu.ac.kr
FU Korean Health Technology R&D Project, Ministry of health & welfare,
Republic of Korea [A120029]
FX This work was supported by a grant of the Korean Health Technology R&D
Project, Ministry of health & welfare, Republic of Korea (No. A120029).
The funder had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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NR 67
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 18
PY 2014
VL 9
IS 8
AR e104927
DI 10.1371/journal.pone.0104927
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO4JF
UT WOS:000341302700051
PM 25133713
ER
PT J
AU Gaigg, SB
Bowler, DM
Gardiner, JM
AF Gaigg, Sebastian B.
Bowler, Dermot M.
Gardiner, John M.
TI Episodic but not semantic order memory difficulties in autism spectrum
disorder: Evidence from the Historical Figures Task
SO MEMORY
LA English
DT Article
DE Memory development; Episodic memory; Semantic memory; Order memory;
Autism spectrum disorder
ID ASPERGERS-SYNDROME; AUTOBIOGRAPHICAL MEMORY; FREE-RECALL; AUTONOETIC
CONSCIOUSNESS; AMNESIC SYNDROME; FUTURE THINKING; EARLY-CHILDHOOD;
ADULTS; CHILDREN; RECOGNITION
AB Considerable evidence suggests that the episodic memory system operates abnormally in autism spectrum disorder (ASD) whereas the functions of the semantic memory system are relatively preserved. Here we show that the same dissociation also applies to the domain of order memory. We asked adult participants to order the names of famous historical figures either according to their chronological order in history (probing semantic memory) or according to a random sequence shown once on a screen (probing episodic memory). As predicted, adults with ASD performed less well than age- and IQ-matched comparison individuals only on the episodic task. This observation is of considerable importance in the context of developmental theory because semantic and episodic order memory abilities can be dissociated in typically developing infants before they reach the age at which the behavioural markers associated with ASD are first apparent. This raises the possibility that early emerging memory abnormalities play a role in shaping the developmental trajectory of the disorder. We discuss the broader implications of this possibility and highlight the urgent need for greater scrutiny of memory competences in ASD early in development.
C1 [Gaigg, Sebastian B.; Bowler, Dermot M.; Gardiner, John M.] City Univ London, Dept Psychol, Northampton EC1V 0HB, England.
RP Gaigg, SB (reprint author), City Univ London, Dept Psychol, Northampton Sq, Northampton EC1V 0HB, England.
EM s.b.gaigg@city.ac.uk
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NR 58
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0965-8211
EI 1464-0686
J9 MEMORY
JI Memory
PD AUG 18
PY 2014
VL 22
IS 6
BP 669
EP 678
DI 10.1080/09658211.2013.811256
PG 10
WC Psychology, Experimental
SC Psychology
GA AE4KJ
UT WOS:000333951000007
PM 23815188
ER
PT J
AU Shih, PY
Lee, SP
Chen, YK
Hsueh, YP
AF Shih, Pu-Yun
Lee, Sue-Ping
Chen, Yi-Kai
Hsueh, Yi-Ping
TI Cortactin-binding protein 2 increases microtubule stability and
regulates dendritic arborization
SO JOURNAL OF CELL SCIENCE
LA English
DT Article
DE Acetylated tubulin; CTTNBP2; Dendritic arborization; Microtubule
bundling
ID MORPHOLOGY; PROMOTES; TUBULIN; TAU; MORPHOGENESIS; PLASTICITY; ISOFORMS;
NEURONS; AUTISM; GENE
AB Neurons are characterized by subcellular compartments, such as axons, dendrites and synapses, that have highly specialized morphologies and biochemical specificities. Cortactin-binding protein 2 (CTTNBP2), a neuron-specific F-actin regulator, has been shown to play a role in the regulation of dendritic spine formation and their maintenance. Here, we show that, in addition to F-actin, CTTNBP2 also associates with microtubules before mature dendritic spines form. This association of CTTNBP2 and microtubules induced the formation of microtubule bundles. Although the middle (Mid) region of CTTNBP2 was sufficient for its association with microtubules, for microtubule bundling, the N-terminal region containing the coiled-coil motifs (NCC), which mediates the dimerization or oligomerization of CTTNBP2, was also required. Our study indicates that CTTNBP2 proteins form a dimer or oligomer and brings multiple microtubule filaments together to form bundles. In cultured hippocampal neurons, knockdown of CTTNBP2 or expression of the Mid or NCC domain alone reduced the acetylation levels of microtubules and impaired dendritic arborization. This study suggests that CTTNBP2 influences both the F-actin and microtubule cytoskeletons and regulates dendritic spine formation and dendritic arborization.
C1 [Shih, Pu-Yun; Hsueh, Yi-Ping] Natl Yang Ming Univ, Fac Life Sci, Inst Genome Sci, Taipei 112, Taiwan.
[Shih, Pu-Yun; Lee, Sue-Ping; Chen, Yi-Kai; Hsueh, Yi-Ping] Acad Sinica, Inst Mol Biol, Taipei 115, Taiwan.
RP Hsueh, YP (reprint author), Natl Yang Ming Univ, Fac Life Sci, Inst Genome Sci, Taipei 112, Taiwan.
EM yph@gate.sinica.edu.tw
FU Academia Sinica [AS-100TP- B09, AS-103-TP-B05]; National Science Council
of Taiwan [NSC 102-2321-B-001-054, NSC 102-2321-B-001-029]
FX This work is supported by grants from Academia Sinica [grant numbers
AS-100TP-B09, AS-103-TP-B05]; and the National Science Council of Taiwan
[grant numbers NSC 102-2321-B-001-054, NSC 102-2321-B-001-029] to Y.P.H.
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NR 26
TC 1
Z9 1
PU COMPANY OF BIOLOGISTS LTD
PI CAMBRIDGE
PA BIDDER BUILDING CAMBRIDGE COMMERCIAL PARK COWLEY RD, CAMBRIDGE CB4 4DL,
CAMBS, ENGLAND
SN 0021-9533
EI 1477-9137
J9 J CELL SCI
JI J. Cell Sci.
PD AUG 15
PY 2014
VL 127
IS 16
BP 3521
EP 3534
DI 10.1242/jcs.149476
PG 14
WC Cell Biology
SC Cell Biology
GA AO2TX
UT WOS:000341180000011
PM 24928895
ER
PT J
AU Martin, BS
Corbin, JG
Huntsman, MM
AF Martin, Brandon S.
Corbin, Joshua G.
Huntsman, Molly M.
TI Deficient tonic GABAergic conductance and synaptic balance in the
fragile X syndrome amygdala
SO JOURNAL OF NEUROPHYSIOLOGY
LA English
DT Article
DE tonic inhibition; GABA; amygdala; fragile X syndrome
ID CONTAINING GABA(A) RECEPTORS; ADULT-RAT BRAIN; MOUSE MODEL;
PHARMACOLOGICAL CHARACTERIZATION; CONTAINING INTERNEURONS; FEEDFORWARD
INHIBITION; BASOLATERAL AMYGDALA; MENTAL-RETARDATION; PYRAMIDAL NEURONS;
CGG REPEAT
AB Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability. Comorbidities of FXS such as autism are increasingly linked to imbalances in excitation and inhibition (E/I) as well as dysfunction in GABAergic transmission in a number of brain regions including the amygdala. However, the link between E/I imbalance and GABAergic transmission deficits in the FXS amygdala is poorly understood. Here we reveal that normal tonic GABA(A) receptor-mediated neurotransmission in principal neurons (PNs) of the basolateral amygdala (BLA) is comprised of both delta- and alpha 5-subunit-containing GABA(A) receptors. Furthermore, tonic GABAergic capacity is reduced in these neurons in the Fmr1 knockout (KO) mouse model of FXS (1.5-fold total, 3-fold delta-subunit, and 2-fold alpha 5-subunit mediated) as indicated by application of gabazine (50 mu M), 4,5,6,7-tetrahydroisoxazolo[5,4-c]pyridin-3-ol (THIP, 1 mu M), and alpha 5ia (1.5 mu M) in whole cell patch-clamp recordings. Moreover, alpha 5-containing tonic GABA(A) receptors appear to preferentially modulate nonsomatic compartments of BLA PNs. Examination of evoked feedforward synaptic transmission in these cells surprisingly revealed no differences in overall synaptic conductance or E/I balance between wild-type (WT) and Fmr1 KO mice. Instead, we observed altered feedforward kinetics in Fmr1 KO PNs that supports a subtle yet significant decrease in E/I balance at the peak of excitatory conductance. Blockade of alpha 5-subunit-containing GABA(A) receptors replicated this condition in WT PNs. Therefore, our data suggest that tonic GABA(A) receptor-mediated neurotransmission can modulate synaptic E/I balance and timing established by feedforward inhibition and thus may represent a therapeutic target to enhance amygdala function in FXS.
C1 [Martin, Brandon S.; Corbin, Joshua G.] Childrens Natl Med Ctr, Ctr Neurosci Res, Washington, DC 20010 USA.
[Martin, Brandon S.] Georgetown Univ, Med Ctr, Interdisciplinary Program Neurosci, Washington, DC 20007 USA.
[Huntsman, Molly M.] Univ Colorado, Skaggs Sch Pharm & Pharmaceut Sci, Dept Pharmaceut Sci, Aurora, CO 80045 USA.
[Huntsman, Molly M.] Univ Colorado, Sch Med, Dept Pediat, Aurora, CO 80045 USA.
RP Huntsman, MM (reprint author), Univ Colorado, Skaggs Sch Pharm & Pharmaceut Sci, Dept Pharmaceut Sci, Anschutz Med Campus, Aurora, CO 80045 USA.
EM molly.huntsman@ucdenver.edu
FU National Institute of Neurological Disorders and Stroke [NS-053719];
Epilepsy Foundation; Autism Speaks; FRAXA Foundation
FX This work was supported by grants from National Institute of
Neurological Disorders and Stroke (M. M. Huntsman; Grant NS-053719), the
Epilepsy Foundation (B. S. Martin), Autism Speaks (M. M. Huntsman and J.
G. Corbin), and the FRAXA Foundation (M. M. Huntsman and J. G. Corbin).
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NR 63
TC 1
Z9 1
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0022-3077
EI 1522-1598
J9 J NEUROPHYSIOL
JI J. Neurophysiol.
PD AUG 15
PY 2014
VL 112
IS 4
BP 890
EP 902
DI 10.1152/jn.00597.2013
PG 13
WC Neurosciences; Physiology
SC Neurosciences & Neurology; Physiology
GA AN8FR
UT WOS:000340839300013
PM 24848467
ER
PT J
AU Pragnya, B
Kameshwari, JSL
Veeresh, B
AF Pragnya, B.
Kameshwari, J. S. L.
Veeresh, B.
TI Ameliorating effect of piperine on behavioral abnormalities and
oxidative markers in sodium valproate induced autism in BALB/C mice
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Autism; Valproate; Mice; Piperine; Behavior
ID CULTURED HIPPOCAMPAL-NEURONS; PRENATAL EXPOSURE; ANIMAL-MODEL; INDUCED
APOPTOSIS; ACID; RATS; SYSTEM; BRAIN; NOREPINEPHRINE; DISORDERS
AB Post natal exposure to VPA (valproic acid) in mice induces behavioral deficits, abnormal sensitivity to sensory stimuli and self-injurious behavior, observed in autism. Piperine has been reported to have protective effect on brain. The present study aimed at evaluating effect of piperine on VPA induced neurobehavioral and biochemical alterations in BALB/c mice. Young BALB/c mice 13 days old were procured from five different litters and segregated into five groups (n = 6; 3 male, 3 female) i.e., Group I served as control group, received physiological saline on PND (Post natal day) 14 & Tween 80 p.o. from PND13-40. Group II served as normal treated group and received piperine (20 mg/kg p.o.) from PND 13-40 and saline s.c. on PND 14. Group III served as valproate treated group received VPA (400 mg/kg s.c.) on PND 14 and Tween 80 p.o. from PND 13-40. Group IV & V served as disease treated group received VPA (400 mg/kg s.c.) on PND 14 & piperine (5 & 20 mg/kg p.o.) from PND 13-40 respectively. BALB/c mice pups were subjected to behavioral testing to assess motor skill development, nociceptive response, locomotion, anxiety, and cognition on various postnatal days up to PND 40. At the end of behavioral evaluation, mice were sacrificed; brain was isolated for biochemical estimations (serotonin, glutathione, MDA and nitric oxide) and histopathological examination. Our study revealed that treatment with piperine significantly improved behavioral alterations, lowered oxidative stress markers, and restored histoarchitecture of cerebellum. This ameliorating effect of piperine is attributed to its anti-oxidant activity, cognition enhancing and neuroprotective activity. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Pragnya, B.; Kameshwari, J. S. L.; Veeresh, B.] Osmania Univ, Dept Pharmacol, G Pulla Reddy Coll Pharm, Hyderabad 500027, Andhra Pradesh, India.
RP Pragnya, B (reprint author), Osmania Univ, Dept Pharmacol, G Pulla Reddy Coll Pharm, Hyderabad 500027, Andhra Pradesh, India.
EM pragnyareddy.9@gmail.com
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NR 44
TC 2
Z9 2
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0166-4328
EI 1872-7549
J9 BEHAV BRAIN RES
JI Behav. Brain Res.
PD AUG 15
PY 2014
VL 270
BP 86
EP 94
DI 10.1016/j.bbr.2014.04.045
PG 9
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AM2PV
UT WOS:000339694200010
PM 24803211
ER
PT J
AU Ju, A
Hammerschmidt, K
Tantra, M
Krueger, D
Brose, N
Ehrenreich, H
AF Ju, Anes
Hammerschmidt, Kurt
Tantra, Martesa
Krueger, Dilja
Brose, Nils
Ehrenreich, Hannelore
TI Juvenile manifestation of ultrasound communication deficits in the
neuroligin-4 null mutant mouse model of autism
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Neuroligin-4; C57BL/6J; Ultrasound or ultrasonic vocalization; Neonatal
milestones; Neonatal development; Gender
ID MICE; VOCALIZATIONS; BEHAVIORS; MECP2; RATS
AB Neuroligin-4 (Nlgn4) is a member of the neuroligin family of postsynaptic cell adhesion molecules. Loss-of-function mutations of NLGN4 are among the most frequent, known genetic causes of heritable autism. Adult NIgn4 null mutant (N1g174-1-) mice are a construct valid model of human autism, with both genders displaying a remarkable autistic phenotype, including deficits in social interaction and communication as well as restricted and repetitive behaviors. In contrast to adults, autism-related abnormalities in neonatal and juvenile NIgn4-/- mice have not been reported yet. The present study has been designed to systematically investigate in male and female NIgn4-/- pups versus wildtype littermates NIgn4+1+) developmental milestones and stimulus-induced ultrasound vocalization (USV). Neonatal development, followed daily from postnatal days (PND) 4 to 21, including physical development, neurological reflexes and neuromotor coordination, did not yield any differences between NIgn4-/- and their WT littermates. USV in pups (PND8-9) in response to brief separation from their mothers revealed remarkable gender effects, and a genotype influence in females regarding latency to first call. In juveniles (PND22-23), USV monitoring upon exposure to an anesthetized female intruder mouse uncovered a clear genotype effect with reduced USV in NIgn4-/- mice, and again a more prominent phenotype in females. Together, these data support an early manifestation of communication deficits in NIgn4-/- mice that appear more pronounced in immature females with their overall stronger USV as compared to males. (C) 2014 Elsevier B.V. All rights reserved.
C1 Max Planck Inst Expt Med, Clin Neuroscience, Gottingen, Germany.
[Hammerschmidt, Kurt] DFG Ctr Nanoscale Microscopy & Mol Physiol, Gottingen, Germany.
[Krueger, Dilja; Brose, Nils] Max Planck Inst Expt Med, Dept Mol Neurobiol, Gottingen, Germany.
RP Ehrenreich, H (reprint author), Max Planck Inst Expt Med, Clin Neuroscience, Gottingen, Germany.
EM ehrenreich@em.mpg.de
FU Max Planck Society; Max Planck Forderstiftung; DFG (CNMPB); EU-AIMS;
Innovative Medicines Initiative Joint Undertaking [115300]; European
Union; EFPIA companies; Autism Speaks
FX This work was supported by the Max Planck Society, the Max Planck
Forderstiftung, the DFG (CNMPB) as well as by EU-AIMS. The research of
EU-AIMS receives support from the Innovative Medicines Initiative Joint
Undertaking under grant agreement no. 115300, resources of which are
composed of financial contribution from the European Union's Seventh
Framework Programme (FP7/2007-2013), from the EFPIA companies, and from
Autism Speaks.
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NR 25
TC 2
Z9 2
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0166-4328
EI 1872-7549
J9 BEHAV BRAIN RES
JI Behav. Brain Res.
PD AUG 15
PY 2014
VL 270
BP 159
EP 164
DI 10.1016/j.bbr.2014.05.019
PG 6
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AM2PV
UT WOS:000339694200020
PM 24855039
ER
PT J
AU Martinez-Martinez, MA
Pacheco-Torres, J
Borrell, V
Canals, S
AF Martinez-Martinez, M. A.
Pacheco-Torres, J.
Borrell, V.
Canals, S.
TI Phenotyping the central nervous system of the embryonic mouse by
magnetic resonance microscopy
SO NEUROIMAGE
LA English
DT Article
DE MRI; Gadolinium; Embryo; Development; Mouse; Brain
ID GENE-EXPRESSION; CONTRAST AGENTS; NEONATAL MOUSE; MR MICROSCOPY; BRAIN;
MICE; FOREBRAIN; AUTISM; ATLAS; MODEL
AB Genetic mouse models of neurodevelopmental disorders are being massively generated, but technologies for their high-throughput phenotyping are missing. The potential of high-resolution magnetic resonance imaging (MRI) for structural phenotyping has been demonstrated before. However, application to the embryonic mouse central nervous system has been limited by the insufficient anatomical detail. Here we present a method that combines staining of live embryos with a contrast agent together with MR microscopy after fixation, to provide unprecedented anatomical detail at relevant embryonic stages. By using this method we have phenotyped the embryonic forebrain of Robo1/2(-/-) double mutant mice enabling us to identify most of the well-known anatomical defects in these mutants, as well as novel more subtle alterations. We thus demonstrate the potential of this methodology for a fast and reliable screening of subtle structural abnormalities in the developing mouse brain, as those associated to defects in disease-susceptibility genes of neurologic and psychiatric relevance. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Martinez-Martinez, M. A.; Borrell, V.] CSIC, Inst Neurociencias, Dev Neurobiol Unit, Sant Joan dAlacant 03550, Spain.
[Martinez-Martinez, M. A.; Pacheco-Torres, J.; Borrell, V.] Univ Miguel Hernandez, Sant Joan dAlacant 03550, Spain.
[Pacheco-Torres, J.; Canals, S.] CSIC, Inst Neurociencias, Cellular & Syst Neurobiol Unit, Sant Joan dAlacant 03550, Spain.
RP Borrell, V (reprint author), CSIC, Inst Neurociencias, Dev Neurobiol Unit, Sant Joan dAlacant 03550, Spain.
EM vborrell@umh.es; scanals@umh.es
RI Canals, Santiago/N-5838-2014
OI Canals, Santiago/0000-0003-2175-8139
FU Spanish Ministry of Science and Innovation MICINN, Era-Net NEURON
TRANSALC [CSD2007-00023, BFU2009-09938, BFU2012-39958,
PIM2010ERN-00679]; [SAF2009-07367]; [BFU2012-33473]
FX We are grateful to M. Tessier-Lavigne for the Robo1/2 mouse colony and
thankful to C. Vegar, M.A. Fernandez and B. Fernandez for excellent
technical assistance. Supported by grants from the Spanish Ministry of
Science and Innovation MICINN to S.C. (CSD2007-00023, BFU2009-09938,
BFU2012-39958 and PIM2010ERN-00679 as part of the Era-Net NEURON
TRANSALC project) and to V.B. (CSD2007-00023, SAF2009-07367,
BFU2012-33473).
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NR 38
TC 0
Z9 0
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1053-8119
EI 1095-9572
J9 NEUROIMAGE
JI Neuroimage
PD AUG 15
PY 2014
VL 97
BP 95
EP 106
DI 10.1016/j.neuroimage.2014.04.043
PG 12
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AJ8WL
UT WOS:000337988700010
PM 24769183
ER
PT J
AU Bridgman, MW
Brown, WS
Spezio, ML
Leonard, MK
Adolphs, R
Paul, LK
AF Bridgman, Matthew W.
Brown, Warren S.
Spezio, Michael L.
Leonard, Matthew K.
Adolphs, Ralph
Paul, Lynn K.
TI Facial emotion recognition in agenesis of the corpus callosum
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Corpus callosum agenesis; Corpus callosum; Facial emotion
ID HIGH-FUNCTIONING AUTISM; SENTENCE COMPREHENSION; PSYCHOPHYSICS TOOLBOX;
SPECTRUM DISORDERS; CHILDREN; DEFICITS; LANGUAGE; CONNECTIVITY;
PERCEPTION; ADULTS
AB Background: Impaired social functioning is a common symptom of individuals with developmental disruptions in callosal connectivity. Among these developmental conditions, agenesis of the corpus callosum provides the most extreme and clearly identifiable example of callosal disconnection. To date, deficits in nonliteral language comprehension, humor, theory of mind, and social reasoning have been documented in agenesis of the corpus callosum. Here, we examined a basic social ability as yet not investigated in this population: recognition of facial emotion and its association with social gaze.
Methods: Nine individuals with callosal agenesis and nine matched controls completed four tasks involving emotional faces: emotion recognition from upright and inverted faces, gender recognition, and passive viewing. Eye-tracking data were collected concurrently on all four tasks and analyzed according to designated facial regions of interest.
Results: Individuals with callosal agenesis exhibited impairments in recognizing emotions from upright faces, in particular lower accuracy for fear and anger, and these impairments were directly associated with diminished attention to the eye region. The callosal agenesis group exhibited greater consistency in emotion recognition across conditions (upright vs. inverted), with poorest performance for fear identification in both conditions. The callosal agenesis group also had atypical facial scanning (lower fractional dwell time in the eye region) during gender naming and passive viewing of faces, but they did not differ from controls on gender naming performance. The pattern of results did not differ when taking into account full-scale intelligence quotient or presence of autism spectrum symptoms.
Conclusions: Agenesis of the corpus callosum results in a pattern of atypical facial scanning characterized by diminished attention to the eyes. This pattern suggests that reduced callosal connectivity may contribute to the development and maintenance of emotion processing deficits involving reduced attention to others' eyes.
C1 [Bridgman, Matthew W.] DuBois Reg Med Ctr, Du Bois, PA 15801 USA.
[Brown, Warren S.] Fuller Theol Seminary, Travis Res Inst, Pasadena, CA 91101 USA.
[Spezio, Michael L.; Adolphs, Ralph; Paul, Lynn K.] CALTECH, Div Humanities & Social Sci, Pasadena, CA 91125 USA.
[Spezio, Michael L.] Scripps Coll, Claremont, CA 91711 USA.
[Leonard, Matthew K.] Univ Calif San Francisco, San Francisco, CA 94117 USA.
[Adolphs, Ralph] CALTECH, Div Biol, Pasadena, CA 91125 USA.
RP Paul, LK (reprint author), CALTECH, Div Humanities & Social Sci, Pasadena, CA 91125 USA.
EM lkpaul@hss.caltech.edu
FU Pfeiffer Foundation; Simons Foundation; Travis Research Institute
FX This research was supported in part by the Pfeiffer Foundation, the
Simons Foundation, and the Travis Research Institute. The authors would
like to thank Candace Markley for her contributions in data management.
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NR 66
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD AUG 14
PY 2014
VL 6
AR 32
DI 10.1186/1866-1955-6-32
PG 14
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AW1DO
UT WOS:000346031000001
PM 25705318
ER
PT J
AU Oberman, LM
Pascual-Leone, A
Rotenberg, A
AF Oberman, Lindsay M.
Pascual-Leone, Alvaro
Rotenberg, Alexander
TI Modulation of corticospinal excitabilty by transcranial magnetic
stimulation in children and adolescents with autism spectrum disorder
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE autism spectrum disorders; transcranial magnetic stimulation;
development; plasticity; GABA; theta burst stimulation
ID THETA-BURST STIMULATION; HUMAN MOTOR CORTEX; CORTICAL INHIBITION;
FUTURE-DIRECTIONS; ASPERGER-SYNDROME; POSTURAL CONTROL; IN-VIVO; GABA;
BRAIN; MODEL
AB The developmental pathophysiology of autism spectrum disorders (ASD) is currently not fully understood. However, multiple lines of evidence suggest that the behavioral phenotype may result from dysfunctional inhibitory control over excitatory synaptic plasticity. Consistent with this claim, previous studies indicate that adults with Asperger's Syndrome show an abnormally extended modulation of corticospinal excitability following a train of repetitive transcranial magnetic stimulation (rTMS). As ASD is a developmental disorder, the current study aimed to explore the effect of development on the duration of modulation of corticospinal excitability in children and adolescents with ASD. Additionally, as the application of rTMS to the understanding and treatment of pediatric neurological and psychiatric disorders is an emerging field, this study further sought to provide evidence for the safety and tolerability of rTMS in children and adolescents with ASD. Corticospinal excitability was measured by applying single pulses of TMS to the primary motor cortex both before and following a 40 s train of continuous theta burst stimulation. 19 high-functioning males ages 9-18 with ASD participated in this study. Results from this study reveal a positive linear relationship between age and duration of modulation of rTMS aftereffects. Specifically we found that the older participants had a longer lasting response. Furthermore, though the specific protocol employed typically suppresses corticospinal excitability in adults, more than one third of our sample had a paradoxical facilitatory response to the stimulation. Results support the safety and tolerability of rTMS in pediatric clinical populations. Data also support published theories implicating aberrant plasticity and GABAergic dysfunction in this population.
C1 [Oberman, Lindsay M.; Pascual-Leone, Alvaro; Rotenberg, Alexander] Harvard Univ, Beth Israel Deaconess Med Ctr, Berenson Allen Ctr Noninvas Brain Stimulat, Sch Med,Dept Neurol, Boston, MA 02215 USA.
[Oberman, Lindsay M.; Rotenberg, Alexander] Harvard Univ, Sch Med, Dept Neurol, Neuromodulat Program,Boston Childrens Hosp, Boston, MA 02115 USA.
[Oberman, Lindsay M.; Rotenberg, Alexander] Harvard Univ, Sch Med, Boston Childrens Hosp, Div Epilepsy & Clin Neurophysiol,Dept Neurol, Boston, MA 02115 USA.
[Oberman, Lindsay M.] EP Bradley Hosp, Neuroplast & Autism Spectrum Disorder Program, East Providence, RI 02915 USA.
[Oberman, Lindsay M.] Brown Univ, Warren Alpert Med Sch, Dept Psychiat & Human Behav, East Providence, RI USA.
RP Oberman, LM (reprint author), EP Bradley Hosp, Neuroplast & Autism Spectrum Disorder Program, 1011 Vet Mem Pkwy, East Providence, RI 02915 USA.
EM loberman@lifespan.org; alexander.rotenberg@childrens.harvard.edu
FU Boston Children's Hospital Translational Research Program; National
Institutes of Health and National Institute of Mental Health
[1R01MH100186]; Harvard Catalyst; Harvard Clinical and Translational
Science Center; NCRR; WAITS NIH [8KL2TR000168-05]; Harvard Clinical and
Translational Science Center [8UL1TR000170-05]; Epilepsy Research
Foundation; Simons Foundation; Nancy Lurie Marks Family Foundation;
National Institutes of Health [R01 HD069776, R01NS073601, R21 MH099196,
R21 NS082870, R21 NS085491, R21 HD07616, UL1 RR025758]; Michael J. Fox
Foundation; Sidney R. Baer Foundation; Center for Integration of
Medicine and Innovative Technology (CIMIT); Department of Defense
[PR121509]; Autism Speaks [48702]; Eisai Inc.; epilepsy therapy project
FX Work on the project is supported grants the Boston Children's Hospital
Translational Research Program (Alexander Rotenberg), National
Institutes of Health and National Institute of Mental Health
(1R01MH100186), and Harvard Catalyst, The Harvard Clinical and
Translational Science Center (NCRR and the WAITS NIH 8KL2TR000168-05).
Lindsay M. Oberman is further supported by grants from the Harvard
Clinical and Translational Science Center (8UL1TR000170-05), the
Epilepsy Research Foundation, the Simons Foundation and the Nancy Lurie
Marks Family Foundation, Alvaro Pascual-Leone is further supported by
grants from the National Institutes of Health (R01 HD069776,
R01NS073601, R21 MH099196, R21 NS082870, R21 NS085491, R21 HD07616, UL1
RR025758), Michael J. Fox Foundation and Sidney R. Baer Foundation.
Alexander Roten berg is further supported by the Center for Integration
of Medicine and Innovative Technology (CIMIT), Department of Defense
PR121509, Autism Speaks Grant 48702, and grants from Eisai Inc. and the
Epilepsy Research Foundation and epilepsy therapy project.
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NR 61
TC 3
Z9 3
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD AUG 13
PY 2014
VL 8
AR 627
DI 10.3389/fnhum.2014.00627
PG 8
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AN6YF
UT WOS:000340744000001
PM 25165441
ER
PT J
AU Adamsen, D
Ramaekers, V
Ho, HTB
Britschgi, C
Rufenacht, V
Meili, D
Bobrowski, E
Philippe, P
Nava, C
Van Maldergem, L
Bruggmann, R
Walitza, S
Wang, J
Grunblatt, E
Thony, B
AF Adamsen, Dea
Ramaekers, Vincent
Ho, Horace T. B.
Britschgi, Corinne
Ruefenacht, Veronique
Meili, David
Bobrowski, Elise
Philippe, Paule
Nava, Caroline
Van Maldergem, Lionel
Bruggmann, Remy
Walitza, Susanne
Wang, Joanne
Gruenblatt, Edna
Thoeny, Beat
TI Autism spectrum disorder associated with low serotonin in CSF and
mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT)
gene
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism spectrum disorder; Serotonin end-metabolite 5-hydroxyindolacetic
acid; SERT; PMAT
ID 1ST-DEGREE RELATIVES; BRAIN-DEVELOPMENT; NEURONS; DISRUPTION; BEHAVIORS;
CHILDREN
AB Background: Patients with autism spectrum disorder (ASD) may have low brain serotonin concentrations as reflected by the serotonin end-metabolite 5-hydroxyindolacetic acid (5HIAA) in cerebrospinal fluid (CSF).
Methods: We sequenced the candidate genes SLC6A4 (SERT), SLC29A4 (PMAT), and GCHFR (GFRP), followed by whole exome analysis.
Results: The known heterozygous p.Gly56Ala mutation in the SLC6A4 gene was equally found in the ASD and control populations. Using a genetic candidate gene approach, we identified, in 8 patients of a cohort of 248 with ASD, a high prevalence (3.2%) of three novel heterozygous non-synonymous mutations within the SLC29A4 plasma membrane monoamine transporter (PMAT) gene, c.86A > G (p.Asp29Gly) in two patients, c.412G > A (p.Ala138Thr) in five patients, and c.978 T > G (p.Asp326Glu) in one patient. Genome analysis of unaffected parents confirmed that these PMAT mutations were not de novo but inherited mutations. Upon analyzing over 15,000 normal control chromosomes, only SLC29A4 c.86A > G was found in 23 alleles (0.14%), while neither c.412G > A (<0.007%) nor c.978 T > G (<0.007%) were observed in all chromosomes analyzed, emphasizing the rareness of the three alterations. Expression of mutations PMAT-p.Ala138Thr and p.Asp326Glu in cellulae revealed significant reduced transport uptake activity towards a variety of substrates including serotonin, dopamine, and 1-methyl-4-phenylpyridinium (MPP+), while mutation p.Asp29Gly had reduced transport activity only towards MPP+. At least two ASD subjects with either the PMAT-Ala138Thr or the PMAT-Asp326Glu mutation with altered serotonin transport activity had, besides low 5HIAA in CSF, elevated serotonin levels in blood and platelets. Moreover, whole exome sequencing revealed additional alterations in these two ASD patients in mainly serotonin-homeostasis genes compared to their non-affected family members.
Conclusions: Our findings link mutations in SLC29A4 to the ASD population although not invariably to low brain serotonin. PMAT dysfunction is speculated to raise serotonin prenatally, exerting a negative feedback inhibition through serotonin receptors on development of serotonin networks and local serotonin synthesis. Exome sequencing of serotonin homeostasis genes in two families illustrated more insight in aberrant serotonin signaling in ASD.
C1 [Adamsen, Dea; Ruefenacht, Veronique; Thoeny, Beat] Univ Zurich, Dept Pediat, Div Metab, CH-8032 Zurich, Switzerland.
[Adamsen, Dea; Walitza, Susanne; Gruenblatt, Edna; Thoeny, Beat] Univ Zurich, Neurosci Ctr Zurich, CH-8000 Zurich, Switzerland.
[Adamsen, Dea; Walitza, Susanne; Gruenblatt, Edna; Thoeny, Beat] ETH Zurich ZNZ, CH-8000 Zurich, Switzerland.
[Adamsen, Dea; Thoeny, Beat] Childrens Res Ctr CRC, CH-8032 Zurich, Switzerland.
[Ramaekers, Vincent; Philippe, Paule] Univ Hosp Liege, Ctr Autism Liege, B-4000 Liege, Belgium.
[Ramaekers, Vincent; Philippe, Paule] Univ Hosp Liege, Div Pediat Neurol, B-4000 Liege, Belgium.
[Ho, Horace T. B.; Wang, Joanne] Univ Washington, Dept Pharmaceut, Seattle, WA 98195 USA.
[Britschgi, Corinne; Meili, David; Thoeny, Beat] Univ Zurich, Dept Pediat, Div Clin Chem & Biochem, CH-8032 Zurich, Switzerland.
[Bobrowski, Elise; Walitza, Susanne; Gruenblatt, Edna] Univ Zurich, Univ Clin Child & Adolescent Psychiat, CH-8050 Zurich, Switzerland.
[Nava, Caroline] Hop La Pitie Salpetriere, Dept Genet Cytogenet & Human Genet, F-75651 Paris, France.
[Van Maldergem, Lionel] Univ Franche Comte, Ctr Human Genet, F-25030 Besancon, France.
[Bruggmann, Remy] Univ Zurich, ETH Zurich, Funct Genom Ctr Zurich, CH-8057 Zurich, Switzerland.
[Walitza, Susanne; Thoeny, Beat] Univ Zurich, Zurich Ctr Integrat Human Physiol ZIHP, CH-8000 Zurich, Switzerland.
RP Thony, B (reprint author), Univ Zurich, Dept Pediat, Div Metab, CH-8032 Zurich, Switzerland.
EM beat.thony@kispi.uzh.ch
FU "Fonds National de Recherches Scientifiques", Belgium (FNRS)
[3.4.540.09.F]; Centre for Neuroscience Zurich; Swiss National Science
Foundation; Novartis "Stiftung fur medizinisch-biologische Forschung";
National Institutes of Health [GM066233]; University Children's Hospital
Zurich
FX We thank Anahita Rassi for technical assistance, Nenad Blau for valuable
discussions, and the University Children's Hospital Zurich for their
general support. This project was supported by grants from the "Fonds
National de Recherches Scientifiques", Belgium (FNRS No: 3.4.540.09.F to
VR), the Centre for Neuroscience Zurich (to BT), the Swiss National
Science Foundation (to BT), Novartis "Stiftung fur
medizinisch-biologische Forschung" (to BT), and the National Institutes
of Health (GM066233 to JW).
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NR 45
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD AUG 13
PY 2014
VL 5
AR 43
DI 10.1186/2040-2392-5-43
PG 11
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AO2NA
UT WOS:000341159100001
PM 25802735
ER
PT J
AU Gimelli, S
Capra, V
Di Rocco, M
Leoni, M
Mirabelli-Badenier, M
Schiaffino, MC
Fiorio, P
Cuoco, C
Gimelli, G
Tassano, E
AF Gimelli, Stefania
Capra, Valeria
Di Rocco, Maja
Leoni, Massimiliano
Mirabelli-Badenier, Marisol
Schiaffino, Maria Cristina
Fiorio, Patrizia
Cuoco, Cristina
Gimelli, Giorgio
Tassano, Elisa
TI Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are
associated with a wide spectrum of neurodevelopmental disorders
SO MOLECULAR CYTOGENETICS
LA English
DT Article
DE IMMP2L; Neurodevelopmental disorders; Copy number variation; Array-CGH
ID TOURETTE-SYNDROME; MITOCHONDRIAL DYSFUNCTION; AUTISM; ACTIVATION;
BREAKPOINT; MUTATION
AB Background: Since the introduction of the array-CGH technique in the diagnostic workup of mental retardation, new recurrent copy number variations and novel microdeletion/microduplication syndromes were identified. These findings suggest that some genomic disorders have high penetrance but a wide range of phenotypic severity.
Results: We present the clinical and molecular description of four unrelated patients affected by neurodevelopmental disorders and overlapping 7q31.1 microdeletion/microduplication, identified by array-CGH and involving only part of the IMMP2L gene.
Conclusion: IMMP2L encodes an inner mitochondrial membrane protease-like protein, which is required for processing of cytochromes inside mitochondria. Numerous studies reported that this gene is implicated in behavioural disorders such as autistic spectrum disorders, attention-deficit hyperactivity disorders, and Gilles de la Tourette syndrome. We discuss the functions of the gene suggesting that IMMP2L may act as risk factor for neurological disease.
C1 [Gimelli, Stefania] Univ Hosp Geneva, Serv Genet Med, Geneva, Switzerland.
[Capra, Valeria] Ist Giannina Gaslini, UO Neurochirurg, I-16147 Genoa, Italy.
[Di Rocco, Maja] Ist Giannina Gaslini, USD Malattie Rare, I-16147 Genoa, Italy.
[Leoni, Massimiliano] Ist Giannina Gaslini, I-16147 Genoa, Italy.
[Mirabelli-Badenier, Marisol] Univ Genoa, DINOMGI Dipartimento, Genoa, Italy.
[Schiaffino, Maria Cristina] Ist Giannina Gaslini, Dipartimento Pediat, Genoa, Italy.
[Fiorio, Patrizia; Cuoco, Cristina; Gimelli, Giorgio; Tassano, Elisa] Ist Giannina Gaslini, Lab Citogenet, I-16147 Genoa, Italy.
RP Tassano, E (reprint author), Ist Giannina Gaslini, Lab Citogenet, I-16147 Genoa, Italy.
EM eli.tassano@gmail.com
FU Cinque per mille dell'IRPEF-Finanziamento della ricerca sanitaria;
Finanziamento Ricerca Corrente, Ministero Salute (contributo per la
ricerca intramurale)
FX We thank the patient's parents for their kind participation and support.
We are grateful to Marco Bertorello and Corrado Torello for their
technical assistance. This work was supported by "Cinque per mille
dell'IRPEF-Finanziamento della ricerca sanitaria" and "Finanziamento
Ricerca Corrente, Ministero Salute" (contributo per la ricerca
intramurale).
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NR 19
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1755-8166
J9 MOL CYTOGENET
JI Mol. Cytogenet.
PD AUG 13
PY 2014
VL 7
AR 54
DI 10.1186/s13039-014-0054-y
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA AN7TM
UT WOS:000340803500001
PM 25478008
ER
PT J
AU Meilleur, AAS
Berthiaume, C
Bertone, A
Mottron, L
AF Meilleur, Andree-Anne S.
Berthiaume, Claude
Bertone, Armando
Mottron, Laurent
TI Autism-Specific Covariation in Perceptual Performances: "g'' or "p''
Factor?
SO PLOS ONE
LA English
DT Article
ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; GENERAL INTELLIGENCE; PITCH
DISCRIMINATION; GABA CONCENTRATION; ASPERGER SYNDROME; AUDITORY-CORTEX;
INSPECTION TIME; VISUAL-CORTEX; SENSITIVITY
AB Background: Autistic perception is characterized by atypical and sometimes exceptional performance in several low- (e.g., discrimination) and mid-level (e. g., pattern matching) tasks in both visual and auditory domains. A factor that specifically affects perceptive abilities in autistic individuals should manifest as an autism-specific association between perceptual tasks. The first purpose of this study was to explore how perceptual performances are associated within or across processing levels and/or modalities. The second purpose was to determine if general intelligence, the major factor that accounts for covariation in task performances in non-autistic individuals, equally controls perceptual abilities in autistic individuals.
Methods: We asked 46 autistic individuals and 46 typically developing controls to perform four tasks measuring low-or mid-level visual or auditory processing. Intelligence was measured with the Wechsler's Intelligence Scale (FSIQ) and Raven Progressive Matrices (RPM). We conducted linear regression models to compare task performances between groups and patterns of covariation between tasks. The addition of either Wechsler's FSIQ or RPM in the regression models controlled for the effects of intelligence.
Results: In typically developing individuals, most perceptual tasks were associated with intelligence measured either by RPM or Wechsler FSIQ. The residual covariation between unimodal tasks, i.e. covariation not explained by intelligence, could be explained by a modality-specific factor. In the autistic group, residual covariation revealed the presence of a plurimodal factor specific to autism.
Conclusions: Autistic individuals show exceptional performance in some perceptual tasks. Here, we demonstrate the existence of specific, plurimodal covariation that does not dependent on general intelligence (or "g'' factor). Instead, this residual covariation is accounted for by a common perceptual process (or "p'' factor), which may drive perceptual abilities differently in autistic and non-autistic individuals.
C1 [Meilleur, Andree-Anne S.; Berthiaume, Claude; Bertone, Armando; Mottron, Laurent] Univ Montreal, Hop Riviere Des Prairies, Ctr Excellence Pervas Dev Disorders CETEDUM, Montreal, PQ, Canada.
[Bertone, Armando] McGill Univ, Sch Appl Child Psychol, Dept Educ & Counselling Psychol, Montreal, PQ, Canada.
RP Mottron, L (reprint author), Univ Montreal, Hop Riviere Des Prairies, Ctr Excellence Pervas Dev Disorders CETEDUM, Montreal, PQ, Canada.
EM laurent.mottron@gmail.com
FU CIHR [171795]; Autism Speaks Foundation [2706]; Frederick Banting and
Charles Best Canada Graduate Scholarships Doctoral Award (CGS-D)
FX This work was supported by grants from CIHR (171795); Autism Speaks
Foundation (2706) and the Frederick Banting and Charles Best Canada
Graduate Scholarships Doctoral Award (CGS-D) (AASM). The funders had no
role in study design, data collection and analysis, decision to publish,
or preparation of the manuscript.
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NR 63
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 12
PY 2014
VL 9
IS 8
AR e103781
DI 10.1371/journal.pone.0103781
PG 13
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO3LJ
UT WOS:000341230400023
PM 25117450
ER
PT J
AU Calderon-Garciduenas, L
Torres-Jardon, R
Kulesza, RJ
Park, SB
D'Angiulli, A
AF Calderon-Garciduenas, Lilian
Torres-Jardon, Ricardo
Kulesza, Randy J.
Park, Su-Bin
D'Angiulli, Amedeo
TI Air pollution and detrimental effects on children's brain. The need for
a multidisciplinary approach to the issue complexity and challenges
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE urban children; air pollution; cognition; brain volumetric changes;
white matter hyperintensities; cytokines; Alzheimer; Parkinson
ID PARTICULATE MATTER; SYSTEMIC INFLAMMATION; SUPERIOR OLIVE; MEXICO-CITY;
EXPOSURE; AUTISM; HEALTH; NANOPARTICLES; COGNITION; RISK
AB Millions of children in polluted cities are showing brain detrimental effects. Urban children exhibit brain structural and volumetric abnormalities, systemic inflammation, olfactory, auditory, vestibular and cognitive deficits v low-pollution controls. Neuroinflammation and blood-brain-barrier (BBB) breakdown target the olfactory bulb, prefrontal cortex and brainstem, but are diffusely present throughout the brain. Urban adolescent Apolipoprotein E4 carriers significantly accelerate Alzheimer pathology. Neurocognitive effects of air pollution are substantial, apparent across all populations, and potentially clinically relevant as early evidence of evolving neurodegenerative changes. The diffuse nature of the neuroinflammation and neurodegeneration forces to employ a weight of evidence approach incorporating current clinical, cognitive, neurophysiological, radiological and epidemiological research. Pediatric air pollution research requires extensive multidisciplinary collaborations to accomplish a critical goal: to protect exposed children through multidimensional interventions having both broad impact and reach. Protecting children and teens from neural effects of air pollution should be of pressing importance for public health.
C1 [Calderon-Garciduenas, Lilian] Univ Montana, Ctr Struct & Funct Neurosci, Dept Biomed Sci, Missoula, MT 59812 USA.
[Torres-Jardon, Ricardo] Univ Nacl Autonoma Mexico, Ctr Ciencias Atmosfera, Mexico City 04510, DF, Mexico.
[Kulesza, Randy J.] Lake Erie Coll Osteopath Med, Auditory Res Ctr, Erie, PA USA.
[Park, Su-Bin; D'Angiulli, Amedeo] Carleton Univ, NICER Lab, Neurosci Imagery Cognit & Emot Res Lab, Ottawa, ON K1S 5B6, Canada.
RP D'Angiulli, A (reprint author), Carleton Univ, NICER Lab, Neurosci Imagery Cognit & Emot Res Lab, IIS, 1125 Colonel Dr,Dunton Tower,Room 2202A, Ottawa, ON K1S 5B6, Canada.
EM amedeo@connect.carleton.ca
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NR 52
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD AUG 12
PY 2014
VL 8
AR 613
DI 10.3389/fnhum.2014.00613
PG 7
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AN6NB
UT WOS:000340710100001
PM 25161617
ER
PT J
AU Abney, DH
Warlaumont, AS
Haussman, A
Ross, JM
Wallot, S
AF Abney, Drew H.
Warlaumont, Anne S.
Haussman, Anna
Ross, Jessica M.
Wallot, Sebastian
TI Using nonlinear methods to quantify changes in infant limb movements and
vocalizations
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE motor development; infant vocalization; nonlinear methods; recurrence;
Allan factor
ID MOTOR DEVELOPMENT; LANGUAGE-DEVELOPMENT; SPONTANEOUS KICKING; UPRIGHT
LOCOMOTION; SPEECH DEVELOPMENT; COORDINATION; AUTISM; COGNITION;
CHILDREN; DYNAMICS
AB The pairing of dynamical systems theory and complexity science brings novel concepts and methods to the study of infant motor development. Accordingly, this longitudinal case study presents a new approach to characterizing the dynamics of infant limb and vocalization behaviors. A single infant's vocalizations and limb movements were recorded from 51-days to 305-days of age. On each recording day, accelerometers were placed on all four of the infant's limbs and an audio recorder was worn on the child's chest. Using nonlinear time series analysis methods, such as recurrence quantification analysis and Allan factor, we quantified changes in the stability and multiscale properties of the infant's behaviors across age as well as how these dynamics relate across modalities and effectors. We observed that particular changes in these dynamics preceded or coincided with the onset of various developmental milestones. For example, the largest changes in vocalization dynamics preceded the onset of canonical babbling. The results show that nonlinear analyses can help to understand the functional co-development of different aspects of infant behavior.
C1 [Abney, Drew H.; Warlaumont, Anne S.; Ross, Jessica M.] Univ Calif, Merced, CA USA.
[Wallot, Sebastian] Aarhus Univ, Dept Culture & Society, Interacting Minds Ctr, Aarhus, Denmark.
RP Abney, DH (reprint author), Univ Calif, Sch Social Sci Humanities & Arts, 5200 North Lake Rd, Merced, CA 95343 USA.
EM drewabney@gmail.com
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NR 113
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD AUG 12
PY 2014
VL 5
AR 771
DI 10.3389/fpsyg.2014.00771
PG 15
WC Psychology, Multidisciplinary
SC Psychology
GA AO5EP
UT WOS:000341366500001
PM 25161629
ER
PT J
AU Kasirer, A
Mashal, N
AF Kasirer, Anat
Mashal, Nira
TI Verbal creativity in autism: comprehension and generation of metaphoric
language in high-functioning autism spectrum disorder and typical
development
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE autism; novel metaphors; executive functioning; metaphor generation
ID VEGETATIVE STATE; AUTOBIOGRAPHICAL MEMORY; CONSCIOUSNESS; HABITUATION;
COGNITION; STIMULI; BRAIN; ATTENTION; AWARENESS; EMOTION
AB Studies on creativity in participants with autism generally show impoverished performance as well as deficient comprehension of metaphoric language. However, very little is known about the ability to generate metaphors in this population. The present study examines verbal creativity in adults with autism-spectrum disorder (ASD) through tasks that rely on novel metaphoric language. Seventeen adults with ASD (mean age = 21.06) and 17 typically developing peers (mean age = 22.71) participated in the study. A multiple-choice questionnaire consisting of conventional and novel metaphors was used to test comprehension, and a sentence completion questionnaire was used to test generation of creative language. Results show similar performance in comprehension of conventional and novel metaphors in both groups, whereas adults with ASD generated more creative metaphors relative to the control group. Scores on tests of vocabulary and naming contributed to the prediction of conventional metaphor comprehension, while scores on tests of mental flexibility contributed to the prediction of novel metaphor comprehension. In addition, scores on a test of non-verbal intelligence contributed to the prediction of metaphor generation. The study points to unique verbal creativity in ASD.
C1 [Kasirer, Anat; Mashal, Nira] Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel.
[Mashal, Nira] Bar Ilan Univ, Gonda Multidisciplinary Brain Res Ctr, IL-52900 Ramat Gan, Israel.
RP Mashal, N (reprint author), Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel.
EM nmashal2@gmail.com
RI Ma, Min/F-6963-2010
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NR 45
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD AUG 11
PY 2014
VL 8
AR 615
DI 10.3389/fnhum.2014.00615
PG 13
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AN6MR
UT WOS:000340709100001
PM 25157225
ER
PT J
AU Xuan, ICY
Hampson, DR
AF Xuan, Ingrid C. Y.
Hampson, David R.
TI Gender-Dependent Effects of Maternal Immune Activation on the Behavior
of Mouse Offspring
SO PLOS ONE
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; SEX-DIFFERENCES; ANIMAL-MODELS; INFECTION;
SCHIZOPHRENIA; CHILDREN; RECEPTOR; BRAIN; MICE; AGE
AB Autism spectrum disorders are neurodevelopmental disorders characterized by two core symptoms; impaired social interactions and communication, and ritualistic or repetitive behaviors. Both epidemiological and biochemical evidence suggests that a subpopulation of autistics may be linked to immune perturbations that occurred during fetal development. These findings have given rise to an animal model, called the "maternal immune activation'' model, whereby the offspring from female rodents who were subjected to an immune stimulus during early or mid-pregnancy are studied. Here, C57BL/6 mouse dams were treated mid-gestation with saline, lipopolysaccharide (LPS) to mimic a bacterial infection, or polyinosinic: polycytidylic acid (Poly IC) to mimic a viral infection. Autism-associated behaviors were examined in the adult offspring of the treated dams. Behavioral tests were conducted to assess motor activity, exploration in a novel environment, sociability, and repetitive behaviors, and data analyses were carried independently on male and female mice. We observed a main treatment effect whereby male offspring from Poly IC-treated dams showed reduced motor activity. In the marble burying test of repetitive behavior, male offspring but not female offspring from both LPS and Poly IC-treated mothers showed increased marble burying. Our findings indicate that offspring from mothers subjected to immune stimulation during gestation show a gender-specific increase in stereotyped repetitive behavior.
C1 [Xuan, Ingrid C. Y.; Hampson, David R.] Univ Toronto, Leslie Dan Fac Pharm, Dept Pharmaceut Sci, Toronto, ON, Canada.
[Hampson, David R.] Univ Toronto, Dept Pharmacol & Toxicol, Fac Med, Toronto, ON, Canada.
RP Hampson, DR (reprint author), Univ Toronto, Leslie Dan Fac Pharm, Dept Pharmaceut Sci, Toronto, ON, Canada.
EM d.hampson@utoronto.ca
FU Canadian Institutes for Health Research (CIHR); CIHR Strategic Training
Program in Biological Therapeutics
FX This work was supported by the Canadian Institutes for Health Research
(CIHR) and the CIHR Strategic Training Program in Biological
Therapeutics. The funders had no role in study design, data collection
and analysis, decision to publish, or preparation of the manuscript.
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NR 52
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 11
PY 2014
VL 9
IS 8
AR e104433
DI 10.1371/journal.pone.0104433
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO1WB
UT WOS:000341105100057
PM 25111339
ER
PT J
AU Gonzalez-Valenzuela, MJ
Garcia-Fortea, P
Delgado-Rios, M
Cazorla-Granados, O
Blasco-Alonso, M
Gonzalez-Mesa, E
AF Jose Gonzalez-Valenzuela, Maria
Garcia-Fortea, Pedro
Delgado-Rios, Myriam
Cazorla-Granados, Olga
Blasco-alonso, Marta
Gonzalez-Mesa, Ernesto
TI Effects of oxytocin used during delivery on development: A retrospective
cohort study
SO JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY
LA English
DT Article
DE Uterine stimulants; Retrospective cohort study; Psychological
development disability; Synthetic oxytocin; Battelle Inventory
ID LOGISTIC-REGRESSION ANALYSIS; AUTISM SPECTRUM DISORDERS;
PITUITARY-ADRENAL AXIS; SOCIAL BEHAVIORS; VASOPRESSIN; LABOR; RECEPTOR;
BRAIN; RISK; INDUCTION
AB Objective: The objective was to evaluate the potential influence of oxytocin administered during delivery on children's development at the age of 5. Method: This study was designed as a retrospective cohort study where children from patients given synthetic oxytocin during delivery were considered as the exposed cohort and children from patients not given oxytocin as the nonexposed cohort. From a total of 7465 births attended at our maternity ward in 2006, an initial sample of 400 was randomly selected. A total of 148 children were evaluated using the Battelle Developmental Inventory. Potential confounding and adjustment factors were analyzed using stratified analysis and multivariate analysis (logistic regression). Results: Oxytocin use did not significantly affect the overall risk of developmental delay in the study sample (relative risk, RR, 1.46; 95% confidence interval, CI [0.79-2.71]). The best fit regression model included twin delivery, type of delivery, and maternal age. In the group of vaginal noninstrumental deliveries, oxytocin administration increased the risk of poor Battelle Developmental Inventory outcome, particularly when maternal age was under 28 or over 35 years of age (odds ratio, OR, 67.14; 95% CI [5.46-824.86]). When delivery was instrumental or through cesarean section in mothers aged 28-35 years, oxytocin administration decreased the risk of developmental disorders (OR 0.16; 95% CI [0.04-0.66]). Conclusion: Although oxytocin administration during delivery did not affect the overall risk of low Battelle Developmental Inventory scores in the study sample, some effects were seen according to maternal age and type of birth.
C1 [Jose Gonzalez-Valenzuela, Maria; Delgado-Rios, Myriam; Cazorla-Granados, Olga] Univ Malaga, Fac Psychol, Dept Dev & Educ Psychol, Malaga 29011, Spain.
[Garcia-Fortea, Pedro; Blasco-alonso, Marta; Gonzalez-Mesa, Ernesto] Univ Malaga, Malaga Obstet & Gynecol Res Grp, IBIMA, Malaga 29011, Spain.
RP Gonzalez-Mesa, E (reprint author), Univ Malaga, Obstet & Gynecol Res Grp, IBIMA, Arroyo Angeles S-N, Malaga 29011, Spain.
EM egonzalezmesa@gmail.com
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NR 62
TC 0
Z9 0
PU TAYLOR & FRANCIS INC
PI PHILADELPHIA
PA 530 WALNUT STREET, STE 850, PHILADELPHIA, PA 19106 USA
SN 1380-3395
EI 1744-411X
J9 J CLIN EXP NEUROPSYC
JI J. Clin. Exp. Neuropsychol.
PD AUG 9
PY 2014
VL 36
IS 7
BP 680
EP 690
DI 10.1080/13803395.2014.926864
PG 11
WC Psychology, Clinical; Clinical Neurology; Psychology
SC Psychology; Neurosciences & Neurology
GA AR0XK
UT WOS:000343298000002
PM 24915966
ER
PT J
AU Fantasia, V
De Jaegher, H
Fasulo, A
AF Fantasia, Valentina
De Jaegher, Hanne
Fasulo, Alessandra
TI We can work it out: an enactive look at cooperation
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE cooperation; development; autism; infancy; social interaction;
participatory sense-making
ID JOINT ACTION; AUTISM; INTENTIONS; CHILDREN; COMMUNICATION; ATTENTION;
COGNITION; LANGUAGE; OTHERS; INTERSUBJECTIVITY
AB The past years have seen an increasing debate on cooperation and its unique human character. Philosophers and psychologists have proposed that cooperative activities are characterized by shared goals to which participants are committed through the ability to understand each other's intentions. Despite its popularity, some serious issues arise with this approach to cooperation. First, one may challenge the assumption that high-level mental processes are necessary for engaging in acting cooperatively. If they are, then how do agents that do not possess such ability (preverbal children, or children with autism who are often claimed to be mind-blind) engage in cooperative exchanges, as the evidence suggests? Secondly, to define cooperation as the result of two de-contextualized minds reading each other's intentions may fail to fully acknowledge the complexity of situated, interactional dynamics and the interplay of variables such as the participants' relational and personal history and experience. In this paper we challenge such accounts of cooperation, calling for an embodied approach that sees cooperation not only as an individual attitude toward the other, but also as a property of interaction processes. Taking an enactive perspective, we argue that cooperation is an intrinsic part of any interaction, and that there can be cooperative interaction before complex communicative abilities are achieved. The issue then is not whether one is able or not to read the other's intentions, but what it takes to participate in joint action. From this basic account, it should be possible to build up more complex forms of cooperation as needed. Addressing the study of cooperation in these terms may enhance our understanding of human social development, and foster our knowledge of different ways of engaging with others, as in the case of autism.
C1 [Fantasia, Valentina; Fasulo, Alessandra] Univ Portsmouth, Ctr Situated Act & Commun, Dept Psychol, Portsmouth PO1 2DY, Hants, England.
[De Jaegher, Hanne] Univ Basque Country, IAS Res Ctr Life Mind & Soc, Dept Log & Philosophy Sci, San Sebastian 20018, Spain.
[De Jaegher, Hanne] Univ Sussex, Ctr Computat Neurosci & Robot, Brighton, E Sussex, England.
RP Fantasia, V (reprint author), Univ Portsmouth, Ctr Situated Act & Commun, Dept Psychol, King Henry 1 St, Portsmouth PO1 2DY, Hants, England.
EM valentina.fantasia@port.ac.uk; h.de.jaegher@gmail.com
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NR 132
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD AUG 8
PY 2014
VL 5
AR 874
DI 10.3389/fpsyg.2014.00874
PG 11
WC Psychology, Multidisciplinary
SC Psychology
GA AN8XM
UT WOS:000340889200001
PM 25152745
ER
PT J
AU Pakarinen, S
Sokka, L
Leinikka, M
Henelius, A
Korpela, J
Huotilainen, M
AF Pakarinen, Satu
Sokka, Laura
Leinikka, Marianne
Henelius, Andreas
Korpela, Jussi
Huotilainen, Minna
TI Fast determination of MMN and P3a responses to linguistically and
emotionally relevant changes in pseudoword stimuli
SO NEUROSCIENCE LETTERS
LA English
DT Article
DE Mismatch negativity (MMN); Event-related potential (ERP); Multi-feature
paradigm; Central auditory processing; Emotion; Language
ID MISMATCH NEGATIVITY MMN; INVOLUNTARY ATTENTION; BRAIN POTENTIALS;
AUDITORY-STIMULI; SENSORY MEMORY; COMPLEX SOUND; DURATION; NOVELTY;
P300; DISCRIMINATION
AB We developed a new multi-feature mismatch negativity (MMN) paradigm with two improvements: Firstly, the standard tone, a pseudoword /ta-ta/ was presented with equal probability to the nine linguistically relevant deviants, reducing the recording time by 45%. Secondly, three rare, emotionally valenced stimuli: happy, angry, and sad utterances of the standard pseudoword were included in the sequence. MMN signals reflecting the perceptual properties of the sounds were observed for all stimuli. In addition, P3a signals were observed for the rare emotionally uttered pseudowords. This 28-min paradigm allows a multi-dimensional evaluation of central speech-sound representations (MMN), and attention allocation (P3a) to emotional information content of speech. We recommend this paradigm for studies on subject groups with impairments in language or emotional information processing, such as autism spectrum disorders, attention disorders, and alexithymia. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Pakarinen, Satu; Sokka, Laura; Leinikka, Marianne; Henelius, Andreas; Korpela, Jussi; Huotilainen, Minna] Finnish Inst Occupat Hlth, FI-00250 Helsinki, Finland.
RP Pakarinen, S (reprint author), Finnish Inst Occupat Hlth, Brain & Technol Team, Topeliuksenkatu 41 a A, FI-00250 Helsinki, Finland.
EM satu.pakarinen@ttl.fi
FU SalWe Research Programme for Mind and Body [1104/10]
FX The authors thank RN Nina Lapvetelainen and Riitta Velin for their
assistance in data collection. The present study was supported by the
SalWe Research Programme for Mind and Body (Tekes - Grant 1104/10).
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NR 45
TC 1
Z9 1
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0304-3940
EI 1872-7972
J9 NEUROSCI LETT
JI Neurosci. Lett.
PD AUG 8
PY 2014
VL 577
BP 28
EP 33
DI 10.1016/j.neulet.2014.06.004
PG 6
WC Neurosciences
SC Neurosciences & Neurology
GA AN0XY
UT WOS:000340308500006
PM 24928223
ER
PT J
AU Manzini, MC
Xiong, L
Shaheen, R
Tambunan, DE
Di Costanzo, S
Mitisalis, V
Tischfield, DJ
Cinquino, A
Ghaziuddin, M
Christian, M
Jiang, Q
Laurent, S
Nanjiani, ZA
Rasheed, S
Hill, RS
Lizarraga, SB
Gleason, D
Sabbagh, D
Salih, MA
Alkuraya, FS
Walsh, CA
AF Manzini, M. Chiara
Xiong, Lan
Shaheen, Ranad
Tambunan, Dimira E.
Di Costanzo, Stefania
Mitisalis, Vanessa
Tischfield, David J.
Cinquino, Antonella
Ghaziuddin, Mohammed
Christian, Mehtab
Jiang, Qin
Laurent, Sandra
Nanjiani, Zohair A.
Rasheed, Saima
Hill, R. Sean
Lizarraga, Sofia B.
Gleason, Danielle
Sabbagh, Diya
Salih, Mustafa A.
Alkuraya, Fowzan S.
Walsh, Christopher A.
TI CC2D1A Regulates Human Intellectual and Social Function as well as
NF-kappa B Signaling Homeostasis
SO CELL REPORTS
LA English
DT Article
ID NONSYNDROMIC MENTAL-RETARDATION; C2 DOMAIN PROTEIN; NOTCH; GENE;
IDENTIFICATION; TRAFFICKING; PLASTICITY; DROSOPHILA; DISORDERS;
RECEPTORS
AB Autism spectrum disorder (ASD) and intellectual disability (ID) are often comorbid, but the extent to which they share common genetic causes remains controversial. Here, we present two autosomal-recessive "founder" mutations in the CC2D1A gene causing fully penetrant cognitive phenotypes, including mild-to-severe ID, ASD, as well as seizures, suggesting shared developmental mechanisms. CC2D1A regulates multiple intracellular signaling pathways, and we found its strongest effect to be on the transcription factor nuclear factor kappa B (NF-kappa B). Cc2d1a gain and loss of function both increase activation of NF-kappa B, revealing a critical role of Cc2d1a in homeostatic control of intracellular signaling. Cc2d1a knockdown in neurons reduces dendritic complexity and increases NF-kappa B activity, and the effects of Cc2d1a depletion can be rescued by inhibiting NF-kappa B activity. Homeostatic regulation of neuronal signaling pathways provides a mechanism whereby common founder mutations could manifest diverse symptoms in different patients.
C1 [Manzini, M. Chiara; Tambunan, Dimira E.; Di Costanzo, Stefania; Mitisalis, Vanessa; Tischfield, David J.; Cinquino, Antonella; Hill, R. Sean; Lizarraga, Sofia B.; Gleason, Danielle; Sabbagh, Diya; Walsh, Christopher A.] Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Div Genet & Genom, Boston, MA 02115 USA.
[Manzini, M. Chiara; Tambunan, Dimira E.; Di Costanzo, Stefania; Mitisalis, Vanessa; Tischfield, David J.; Cinquino, Antonella; Hill, R. Sean; Lizarraga, Sofia B.; Gleason, Danielle; Sabbagh, Diya; Walsh, Christopher A.] Howard Hughes Med Inst, Chevy Chase, MD 20815 USA.
[Manzini, M. Chiara; Tambunan, Dimira E.; Di Costanzo, Stefania; Mitisalis, Vanessa; Tischfield, David J.; Cinquino, Antonella; Hill, R. Sean; Lizarraga, Sofia B.; Gleason, Danielle; Sabbagh, Diya; Walsh, Christopher A.] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA.
[Manzini, M. Chiara; Tambunan, Dimira E.; Di Costanzo, Stefania; Mitisalis, Vanessa; Tischfield, David J.; Cinquino, Antonella; Hill, R. Sean; Lizarraga, Sofia B.; Gleason, Danielle; Sabbagh, Diya; Walsh, Christopher A.] Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USA.
[Xiong, Lan; Jiang, Qin] Univ Montreal, Montreal Mental Hlth Univ Inst, Res Ctr, Dept Psychiat, Montreal, PQ H1N 3V2, Canada.
[Xiong, Lan; Christian, Mehtab; Laurent, Sandra] Univ Montreal Hosp, Res Ctr, Montreal, PQ H2L 2W5, Canada.
[Shaheen, Ranad; Sabbagh, Diya; Alkuraya, Fowzan S.] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia.
[Ghaziuddin, Mohammed] Univ Michigan Hlth Syst, Dept Child & Adolescent Psychiat, Ann Arbor, MI 48109 USA.
[Nanjiani, Zohair A.] Univ Karachi, Ma Ayesha Mem Ctr, Karachi 75350, Pakistan.
[Rasheed, Saima] Autism Inst, Karachi 74000, Pakistan.
[Salih, Mustafa A.] King Saud Univ, Coll Med, Dept Pediat, Div Pediat Neurol, Riyadh 11461, Saudi Arabia.
[Walsh, Christopher A.] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA.
RP Salih, MA (reprint author), King Saud Univ, Coll Med, Dept Pediat, Div Pediat Neurol, Riyadh 11461, Saudi Arabia.
EM mustafa_salih05@yahoo.com; falkuraya@kfshrc.edu.sa;
christopher.walsh@childrens.harvard.edu
FU NIH [R01MH083565, R01NS032457, R00HD067379]; Simons Foundation; KACST
[13-BIO1113-20]; Centro per la Comunicazione e Ricerca del Collegio
Ghislieri; Hearst Fund; Manton Center for Orphan Disease Research;
Deanship of Scientific Research, King Saud University, Riyadh, Saudi
Arabia [RGP-VPP-301]; Italian National Research Council; Giovanni
Armenise-Harvard Foundation
FX The authors would like to thank the families for their constant
availability and collaboration, Dilenny Gonzalez and Daniel Rakiec for
technical help, Adria Bodell for help with patient recruitment, Tom
Maynard at the George Washington University for help with qPCR, and the
Genotyping and Sequencing Core Facility at KFSHRC for help with analysis
of families 1 and 2. They are also grateful to Jenny Yang, Tim Yu, and
Adam Oaks for helpful discussion. Research was supported by grants from
the NIH (R01MH083565 and R01NS032457 to C.A.W. and R00HD067379 to
M.C.M.) the Simons Foundation (to C.A.W.), and KACST (Grant
13-BIO1113-20 to F.S.A.). M.C.M. was also supported by grants from the
Centro per la Comunicazione e Ricerca del Collegio Ghislieri, the Hearst
Fund, and the Manton Center for Orphan Disease Research. M.A.S. was
supported by the Deanship of Scientific Research, King Saud University,
Riyadh, Saudi Arabia through the research group project number
RGP-VPP-301. A.C. was supported by a fellowship from the Italian
National Research Council and the Giovanni Armenise-Harvard Foundation.
C.A.W. is an Investigator of the Howard Hughes Medical Institute.
CR Al-Tawashi A, 2012, J BIOL CHEM, V287, P14644, DOI 10.1074/jbc.M111.261875
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NR 33
TC 0
Z9 0
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 2211-1247
J9 CELL REP
JI Cell Reports
PD AUG 7
PY 2014
VL 8
IS 3
BP 647
EP 655
DI 10.1016/j.celrep.2014.06.039
PG 9
WC Cell Biology
SC Cell Biology
GA AO7ZR
UT WOS:000341572200001
PM 25066123
ER
PT J
AU Shohat, S
Shifman, S
AF Shohat, Shahar
Shifman, Sagiv
TI Bias towards large genes in autism
SO NATURE
LA English
DT Letter
ID DE-NOVO MUTATIONS; SPECTRUM DISORDERS
C1 [Shohat, Shahar; Shifman, Sagiv] Hebrew Univ Jerusalem, Inst Life Sci, Dept Genet, IL-91904 Jerusalem, Israel.
RP Shohat, S (reprint author), Hebrew Univ Jerusalem, Inst Life Sci, Dept Genet, IL-91904 Jerusalem, Israel.
EM sagiv@vms.huji.ac.il
CR Abrahams BS, 2013, MOL AUTISM, V4, DOI 10.1186/2040-2392-4-36
Ben-David E, 2011, HUM MOL GENET, V20, P3632, DOI 10.1093/hmg/ddr283
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Sanders SJ, 2011, NEURON, V70, P863, DOI 10.1016/j.neuron.2011.05.002
Sanders SJ, 2012, NATURE, V485, P237, DOI 10.1038/nature10945
NR 9
TC 2
Z9 2
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0028-0836
EI 1476-4687
J9 NATURE
JI Nature
PD AUG 7
PY 2014
VL 512
IS 7512
BP E1
EP E2
DI 10.1038/nature12504
PG 2
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AM5NX
UT WOS:000339908000001
PM 25100484
ER
PT J
AU Zylka, MJ
Philpot, BD
King, IF
AF Zylka, Mark J.
Philpot, Ben D.
King, Ian F.
TI Bias towards large genes in autism Reply
SO NATURE
LA English
DT Letter
ID TRANSCRIPTION
C1 [Zylka, Mark J.; Philpot, Ben D.; King, Ian F.] Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USA.
[Zylka, Mark J.; Philpot, Ben D.] Univ N Carolina, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA.
[Zylka, Mark J.; Philpot, Ben D.] Univ N Carolina, UNC Neurosci Ctr, Chapel Hill, NC 27599 USA.
RP Zylka, MJ (reprint author), Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USA.
EM zylka@med.unc.edu
CR Abrahams BS, 2013, MOL AUTISM, V4, DOI 10.1186/2040-2392-4-36
King IF, 2013, NATURE, V501, P58, DOI 10.1038/nature12504
Shohat S., 2014, NATURE, P512
Solier S, 2013, CANCER RES, V73, P4830, DOI 10.1158/0008-5472.CAN-12-3504
Teves SS, 2014, NAT STRUCT MOL BIOL, V21, P88, DOI 10.1038/nsmb.2723
Vaags AK, 2012, AM J HUM GENET, V90, P133, DOI 10.1016/j.ajhg.2011.11.025
van Daalen E, 2011, NEUROGENETICS, V12, P315, DOI 10.1007/s10048-011-0297-2
Veloso A, 2013, PLOS ONE, V8, DOI 10.1371/journal.pone.0078190
NR 8
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0028-0836
EI 1476-4687
J9 NATURE
JI Nature
PD AUG 7
PY 2014
VL 512
IS 7512
BP E2
EP E2
DI 10.1038/nature13583
PG 1
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AM5NX
UT WOS:000339908000002
PM 25100485
ER
PT J
AU Wada, M
Suzuki, M
Takaki, A
Miyao, M
Spence, C
Kansaku, K
AF Wada, Makoto
Suzuki, Mayuko
Takaki, Akiko
Miyao, Masutomo
Spence, Charles
Kansaku, Kenji
TI Spatio-temporal processing of tactile stimuli in autistic children
SO SCIENTIFIC REPORTS
LA English
DT Article
ID TEMPORAL-ORDER JUDGMENT; RUBBER HAND ILLUSION; SPECTRUM DISORDERS;
REFERENCE FRAMES; BRAIN; PERCEPTION; SELF; REPRESENTATIONS; VISION;
SPACE
AB Altered multisensory integration has been reported in autism; however, little is known concerning how the autistic brain processes spatio-temporal information concerning tactile stimuli. We report a study in which a crossed-hands illusion was investigated in autistic children. Neurotypical individuals often experience a subjective reversal of temporal order judgments when their hands are stimulated while crossed, and the illusion is known to be acquired in early childhood. However, under those conditions where the somatotopic representation is given priority over the actual spatial location of the hands, such reversals may not occur. Here, we showed that a significantly smaller illusory reversal was demonstrated in autistic children than in neurotypical children. Furthermore, in an additional experiment, the young boys who had higher Autism Spectrum Quotient (AQ) scores generally showed a smaller crossed hands deficit. These results suggest that rudimentary spatio-temporal processing of tactile stimuli exists in autistic children, and the altered processing may interfere with the development of an external frame of reference in real-life situations.
C1 [Wada, Makoto; Kansaku, Kenji] Natl Rehabil Ctr Persons Disabil, Inst Res, Dept Rehabil Brain Funct, Syst Neurosci Sect, Tokorozawa, Saitama 3598555, Japan.
[Wada, Makoto] Natl Rehabil Ctr Persons Disabil, Inst Res, Dept Rehabil Brain Funct, Dev Disorders Sect, Tokorozawa, Saitama 3598555, Japan.
[Miyao, Masutomo] Natl Ctr Child Hlth & Dev, Dept Med Psychol, Div Dev Neuropsychol, Tokyo, Tokyo 1578535, Japan.
[Spence, Charles] Univ Oxford, Dept Expt Psychol, Crossmodal Res Lab, Oxford OX1 3UD, England.
[Kansaku, Kenji] Univ Electrocommun, Brain Sci Inspired Life Support Res, Tokyo 1828585, Japan.
RP Kansaku, K (reprint author), Natl Rehabil Ctr Persons Disabil, Inst Res, Dept Rehabil Brain Funct, Syst Neurosci Sect, Tokorozawa, Saitama 3598555, Japan.
EM kansaku-kenji@rehab.go.ip
FU MEXT [23300151]
FX This study was partly supported by a MEXT grant (#23300151) to K.
Kansaku. We would like to thank S. Iwama for technical assistance; H.
Hirose, H. Agarie, S. Kim and S. Kitazawa for their valuable comments;
and Y. Nakajima and S. Kato for their continuous encouragement.
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NR 59
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2045-2322
J9 SCI REP-UK
JI Sci Rep
PD AUG 7
PY 2014
VL 4
AR 5985
DI 10.1038/srep05985
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AM7GL
UT WOS:000340033300008
PM 25100146
ER
PT J
AU Yasuda, Y
Hashimoto, R
Fukai, R
Okamoto, N
Hiraki, Y
Yamamori, H
Fujimoto, M
Ohi, K
Taniike, M
Mohri, I
Nakashima, M
Tsurusaki, Y
Saitsu, H
Matsumoto, N
Miyake, N
Takeda, M
AF Yasuda, Yuka
Hashimoto, Ryota
Fukai, Ryoko
Okamoto, Nobuhiko
Hiraki, Yoko
Yamamori, Hidenaga
Fujimoto, Michiko
Ohi, Kazutaka
Taniike, Masako
Mohri, Ikuko
Nakashima, Mitsuko
Tsurusaki, Yoshinori
Saitsu, Hirotomo
Matsumoto, Naomichi
Miyake, Noriko
Takeda, Masatoshi
TI Duplication of the NPHP1 gene in patients with autism spectrum disorder
and normal intellectual ability: a case series
SO ANNALS OF GENERAL PSYCHIATRY
LA English
DT Article
DE Autism spectrum disorder; Copy-number variants; Duplication;
Nephronophthisis 1 gene; Intelligence
ID PERVASIVE DEVELOPMENTAL DISORDERS; COPY-NUMBER VARIATION; JOUBERT
SYNDROME; DE-NOVO; NEPHRONOPHTHISIS; DISABILITIES; INDIVIDUALS;
PREVALENCE; CHILDREN; NETWORK
AB Autism spectrum disorder is a neurodevelopmental disorder characterized by impairments in social interactions, reduced verbal communication abilities, stereotyped repetitive behaviors, and restricted interests. It is a complex condition caused by genetic and environmental factors; the high heritability of this disorder supports the presence of a significant genetic contribution. Many studies have suggested that copy-number variants contribute to the etiology of autism spectrum disorder. Recently, copy-number variants of the nephronophthisis 1 gene have been reported in patients with autism spectrum disorder. To the best of our knowledge, only six autism spectrum disorder cases with duplications of the nephronophthisis 1 gene have been reported. These patients exhibited intellectual dysfunction, including verbal dysfunction in one patient, below-average verbal intellectual ability in one patient, and intellectual disability in four patients.
In this study, we identified nephronophthisis 1 duplications in two unrelated Japanese patients with autism spectrum disorder using a high-resolution single-nucleotide polymorphism array. This report is the first to describe a nephronophthisis 1 duplication in an autism spectrum disorder patient with an average verbal intelligence quotient and an average performance intelligence quotient. However, the second autism spectrum disorder patient with a nephronophthisis 1 duplication had a below-average performance intelligence quotient. Neither patient exhibited physical dysfunction, motor developmental delay, or neurological abnormalities. This study supports the clinical observation of nephronophthisis 1 duplication in autism spectrum disorder cases and might contribute to our understanding of the clinical phenotype that arises from this duplication.
C1 [Yasuda, Yuka; Hashimoto, Ryota; Yamamori, Hidenaga; Fujimoto, Michiko; Ohi, Kazutaka; Takeda, Masatoshi] Osaka Univ, Grad Sch Med, Dept Psychiat, Suita, Osaka 5650871, Japan.
[Hashimoto, Ryota; Taniike, Masako; Mohri, Ikuko] Osaka Univ, United Grad Sch Child Dev, Mol Res Ctr Childrens Mental Dev, Suita, Osaka 5650871, Japan.
[Fukai, Ryoko] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan.
[Fukai, Ryoko; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Matsumoto, Naomichi; Miyake, Noriko] Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan.
[Okamoto, Nobuhiko] Osaka Med Ctr, Div Med Genet, Izumi 5941101, Japan.
[Okamoto, Nobuhiko] Res Inst Maternal & Child Hlth, Izumi 5941101, Japan.
[Hiraki, Yoko] Hiroshima Municipal Ctr Child Hlth & Dev, Hiroshima 7320052, Japan.
[Yamamori, Hidenaga] Osaka Univ, Grad Sch Med, Dept Mol Neuropsychiat, Suita, Osaka 5650871, Japan.
RP Hashimoto, R (reprint author), Osaka Univ, Grad Sch Med, Dept Psychiat, D3,2-2 Yamadaoka, Suita, Osaka 5650871, Japan.
EM hashimor@psy.med.osaka-u.ac.jp
RI Hashimoto, Ryota/P-8572-2014
OI Hashimoto, Ryota/0000-0002-5941-4238
FU Japanese Ministry of Health, Labor, and Welfare [H22-seishin-ippan-001,
H23-jitsuyouka (nanbyo)-ippan-005, H25-shinkei kin-ippan-001]; Japan
Society for the Promotion of Science (JSPS) [24249019, 22390225,
25293250, 25293085, 25293235, 24591680]; Challenging Exploratory
Research grant [23659565]; Japanese Ministry of Education, Culture,
Sports, Science, and Technology (MEXT) [25129704, 12024421, 18023045];
Strategic Research Program for Brain Sciences [11105137]; Fund for the
Creation of Innovation Centers for Advanced Interdisciplinary Research
Areas Program in the Project for Developing Innovation Systems; Japan
Foundation for Neuroscience and Mental Health; Takeda Science Foundation
FX We thank the patients and their families for participating in this
study. Additionally, we thank Ms. Y. Yamashita, Ms. E. Koike, Ms. S.
Sugimoto, Ms. N. Watanabe, and Ms. K. Takabe for their technical
assistance. This work was supported by research grants from the Japanese
Ministry of Health, Labor, and Welfare (H22-seishin-ippan-001,
H23-jitsuyouka (nanbyo)-ippan-005, H25-shinkei kin-ippan-001), the Japan
Society for the Promotion of Science (JSPS) through a Grant-in-Aid for
Scientific Research [(A) (24249019), (B) (22390225, 25293250, 25293085,
and 25293235), and (C) (24591680)] and a Challenging Exploratory
Research grant (23659565), the Japanese Ministry of Education, Culture,
Sports, Science, and Technology (MEXT) through a Grant-in-Aid for
Scientific Research in Innovative Areas (Comprehensive Brain Science
Network, 25129704) (Transcription Cycle, 12024421), Priority
Areas-Research on the Pathomechanisms of Brain Disorders (18023045), the
Strategic Research Program for Brain Sciences (11105137), the Fund for
the Creation of Innovation Centers for Advanced Interdisciplinary
Research Areas Program in the Project for Developing Innovation Systems,
the Japan Foundation for Neuroscience and Mental Health, and the Takeda
Science Foundation.
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NR 23
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1744-859X
J9 ANN GEN PSYCHIATR
JI Ann. Gen. Psychiatr.
PD AUG 6
PY 2014
VL 13
AR 22
DI 10.1186/s12991-014-0022-2
PG 5
WC Psychiatry
SC Psychiatry
GA AN9EO
UT WOS:000340909000001
PM 25126106
ER
PT J
AU Kulesskaya, N
Karpova, NN
Ma, L
Tian, L
Voikar, V
AF Kulesskaya, Natalia
Karpova, Nina N.
Ma, Li
Tian, Li
Voikar, Vootele
TI Mixed housing with DBA/2 mice induces stress in C57BL/6 mice:
implications for interventions based on social enrichment
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE animal model; stress; mixed housing; stress-related genes; behavioral
interventions; social enrichment; social learning
ID INBRED MOUSE STRAINS; BEHAVIORAL TASKS RELEVANT; BTBR-T+TF/J MICE;
DEFEAT STRESS; GLUCOCORTICOID-RECEPTOR; EPIGENETIC REGULATION;
ALZHEIMERS-DISEASE; ADRENAL AXIS; DEPRESSION; AUTISM
AB Several behavioral interventions, based on social enrichment and observational learning are applied in treatment of neuropsychiatric disorders. However, the mechanism of such modulatory effect and the safety of applied methods on individuals involved in social support need further investigation. We took advantage of known differences between inbred mouse strains to reveal the effect of social enrichment on behavior and neurobiology of animals with different behavioral phenotypes. C57BL/6 and DBA/2 female mice displaying multiple differences in cognitive, social, and emotional behavior were group-housed either in same-strain or in mixed-strain conditions. Comprehensive behavioral phenotyping and analysis of expression of several plasticity- and stress-related genes were done to measure the reciprocal effects of social interaction between the strains. Contrary to our expectation, mixed housing did not change the behavior of DBA/2 mice. Nevertheless, the level of serum corticosterone and the expression of glucocorticoid receptor Nr3c1 in the brain were increased in mixed housed DBA/2 as compared with those of separately housed DBA/2 mice. In contrast, socially active C57BL/6 animals were more sensitive to the mixed housing, displaying several signs of stress: alterations in learning, social, and anxiety-like behavior and anhedonia. These behavioral impairments were accompanied by the elevated serum corticosterone and the reduced expression of Nr3c1, as well as the elevated Bdnf levels in the cortex and hippocampus. Our results demonstrate the importance of social factors in modulation of both behavior and the underlying neurobiological mechanisms in stress response, and draw attention to the potential negative impact of social interventions for individuals involved in social support.
C1 [Kulesskaya, Natalia; Karpova, Nina N.; Ma, Li; Tian, Li; Voikar, Vootele] Univ Helsinki, Ctr Neurosci, FIN-00014 Helsinki, Finland.
RP Kulesskaya, N (reprint author), Univ Helsinki, Ctr Neurosci, POB 56,Viikinkaari 4, FIN-00014 Helsinki, Finland.
EM natalia.kulesskaya@helsinki.fi; nina.karpova@helsinki.fi
FU Biocenter Finland; Helsinki graduate program in biotechnology and
molecular biology; Ida Montinin saasto; Academy of Finland
FX This work was supported by Biocenter Finland, Helsinki graduate program
in biotechnology and molecular biology, Ida Montinin saasto and Academy
of Finland. We would like to thank Prof. Heikki Rauvala for critical
reading and discussion, and Sissi Pastell for animal care.
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NR 95
TC 3
Z9 3
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5153
J9 FRONT BEHAV NEUROSCI
JI Front. Behav. Neurosci.
PD AUG 6
PY 2014
VL 8
AR 257
DI 10.3389/fnbeh.2014.00257
PG 15
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AN9BZ
UT WOS:000340902200001
PM 25147512
ER
PT J
AU Wang, SSH
Kloth, AD
Badura, A
AF Wang, Samuel S. -H.
Kloth, Alexander D.
Badura, Aleksandra
TI The Cerebellum, Sensitive Periods, and Autism
SO NEURON
LA English
DT Review
ID FRAGILE-X-SYNDROME; INTRINSIC FUNCTIONAL CONNECTIVITY;
COGNITIVE-AFFECTIVE SYNDROME; VENTRAL TEGMENTAL AREA; MONKEYS
MACACA-MULATTA; ORBITAL FRONTAL-CORTEX; SPECTRUM DISORDERS; PREFRONTAL
CORTEX; MATERNAL INFECTION; SOCIAL-BEHAVIOR
AB Cerebellar research has focused principally on adult motor function. However, the cerebellum also maintains abundant connections with nonmotor brain regions throughout postnatal life. Here we review evidence that the cerebellum may guide the maturation of remote nonmotor neural circuitry and influence cognitive development, with a focus on its relationship with autism. Specific cerebellar zones influence neocortical substrates for social interaction, and we propose that sensitive-period disruption of such internal brain communication can account for autism's key features.
C1 [Wang, Samuel S. -H.; Kloth, Alexander D.; Badura, Aleksandra] Princeton Univ, Princeton Neurosci Inst, Princeton, NJ 08544 USA.
[Wang, Samuel S. -H.; Kloth, Alexander D.; Badura, Aleksandra] Princeton Univ, Dept Mol Biol, Princeton, NJ 08544 USA.
RP Wang, SSH (reprint author), Princeton Univ, Princeton Neurosci Inst, Princeton, NJ 08544 USA.
EM sswang@princeton.edu
FU NIH [R01 NS045193, F31 MH098651]; Nancy Lurie Marks Family Foundation;
Sutherland Cook Fund
FX We thank Benjamin Campbell, Sara Connolly, Cristina Domnisoru, Jeff
Erlich, Daniel Geschwind, Elizabeth Gould, David Heeger, Mala Murthy,
Bence Olveczky, Jordan Taylor, Huda Zoghbi, and members of the S.S.-H.W.
lab for discussion and comments. We thank Randy Buckner and Partha Mitra
for the use of images. This work was supported by NIH R01 NS045193
(S.S.-H.W.), NIH F31 MH098651 (A. D. K.), the Nancy Lurie Marks Family
Foundation (S.S.-H.W), and the Sutherland Cook Fund (S.S.-H.W).
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NR 163
TC 5
Z9 5
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0896-6273
EI 1097-4199
J9 NEURON
JI Neuron
PD AUG 6
PY 2014
VL 83
IS 3
BP 518
EP 532
DI 10.1016/j.neuron.2014.07.016
PG 15
WC Neurosciences
SC Neurosciences & Neurology
GA AN3HY
UT WOS:000340479100005
PM 25102558
ER
PT J
AU Kennedy, DP
Adolphs, R
AF Kennedy, Daniel P.
Adolphs, Ralph
TI Violations of Personal Space by Individuals with Autism Spectrum
Disorder
SO PLOS ONE
LA English
DT Article
ID SOCIAL-BEHAVIOR; DIAGNOSTIC INTERVIEW; ETHOLOGICAL APPROACH; AMYGDALA;
CHILDREN; ADOLESCENTS; TRAITS; BRAIN
AB The ability to maintain an appropriate physical distance (i.e., interpersonal distance) from others is a critical aspect of social interaction and contributes importantly to real-life social functioning. In Study 1, using parent-report data that had been acquired on a large number of individuals (ages 4-18 years) for the Autism Genetic Resource Exchange and the Simons Simplex Collection, we found that those with Autism Spectrum Disorder (ASD; n = 766) more often violated the space of others compared to their unaffected siblings (n = 766). This abnormality held equally across ASD diagnostic categories, and correlated with clinical measures of communication and social functioning. In Study 2, laboratory experiments in a sample of high-functioning adults with ASD demonstrated an altered relationship between interpersonal distance and personal space, and documented a complete absence of personal space in 3 individuals with ASD. Furthermore, anecdotal self-report from several participants confirmed that violations of social distancing conventions continue to occur in real-world interactions through adulthood. We suggest that atypical social distancing behavior offers a practical and sensitive measure of social dysfunction in ASD, and one whose psychological and neurological substrates should be further investigated.
C1 [Kennedy, Daniel P.] Indiana Univ, Dept Psychol & Brain Sci, Bloomington, IN 47405 USA.
[Kennedy, Daniel P.; Adolphs, Ralph] CALTECH, Div Humanities & Social Sci, Pasadena, CA 91125 USA.
[Adolphs, Ralph] CALTECH, Div Biol, Pasadena, CA 91125 USA.
RP Kennedy, DP (reprint author), Indiana Univ, Dept Psychol & Brain Sci, Bloomington, IN 47405 USA.
EM dpk@indiana.edu; radolphs@hss.caltech.edu
FU Simons Foundation [SFARI-07-01]; National Institute of Mental Health
[R01 MH080721]; Tamagawa University global Centers of Excellence program
of the Japanese Ministry of Education, Culture, Sports and Technology
FX This work was supported by the Simons Foundation (SFARI-07-01 to R.A.),
the National Institute of Mental Health (R01 MH080721 to R.A.), and the
Tamagawa University global Centers of Excellence program of the Japanese
Ministry of Education, Culture, Sports and Technology. The funders had
no role in study design, data collection and analysis, decision to
publish, or preparation of the manuscript.
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SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 6
PY 2014
VL 9
IS 8
AR e103369
DI 10.1371/journal.pone.0103369
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AM6SM
UT WOS:000339995100019
PM 25100326
ER
PT J
AU Paterson, C
Law, AJ
AF Paterson, Clare
Law, Amanda J.
TI Transient Overexposure of Neuregulin 3 during Early Postnatal
Development Impacts Selective Behaviors in Adulthood
SO PLOS ONE
LA English
DT Article
ID EPIDERMAL-GROWTH-FACTOR; DEVELOPING NEOCORTEX; RECOGNITION MEMORY;
PREFRONTAL CORTEX; ANIMAL-MODEL; SCHIZOPHRENIA; MICE; RECEPTOR;
SUSCEPTIBILITY; INTERNEURONS
AB Neuregulin 3 (NRG3), a specific ligand for ErbB4 and a neuronal-enriched neurotrophin is implicated in the genetic predisposition to a broad spectrum of neurodevelopmental, neurocognitive and neuropsychiatric disorders, including Alzheimer's disease, autism and schizophrenia. Genetic studies in schizophrenia demonstrate that risk variants in NRG3 are associated with cognitive and psychotic symptom severity, accompanied by increased expression of prefrontal cortical NRG3. Despite our expanding knowledge of genetic involvement of NRG3 in neurological disorders, little is known about the neurodevelopmental mechanisms of risk. Here we exploited the fact that a paralog of NRG3, NRG1, readily penetrates the murine blood brain barrier (BBB). In this study we synthesized the bioactive epidermal growth factor (EGF) domain of NRG3, and using previously validated in-vivo peripheral injection methodologies in neonatal mice, demonstrate that NRG3 successfully crosses the BBB, where it activates its receptor ErbB4 and downstream Akt signaling at levels of bioactivity comparable to NRG1. To determine the impact of NRG3 overexpression during one critical developmental window, C57BL/6 male mice were subcutaneously injected daily with NRG1-EGF, NRG3-EGF or vehicle from postnatal days 2-10. Mice were tested in adulthood using a comprehensive battery of behavioral tasks relevant to neurocognitive and psychiatric disorders. In agreement with previous studies, developmental overexposure to NRG1 induced multiple non-CNS mediated peripheral effects as well as severely disrupting performance of prepulse inhibition of the startle response. In contrast, NRG3 had no effect on any peripheral measures investigated or sensorimotor gating. Specifically, developmental NRG3 overexposure produced an anxiogenic-like phenotype and deficits in social behavior in adulthood. These results provide primary data to support a role for NRG3 in brain development and function, which appears to be distinct from its paralog NRG1. Furthermore we demonstrate how perturbations in NRG3 expression at distinct developmental stages may contribute to the neurological deficits observed in brain disorders such as schizophrenia and autism.
C1 [Paterson, Clare; Law, Amanda J.] Univ Colorado, Sch Med, Dept Psychiat, Aurora, CO 80045 USA.
[Law, Amanda J.] Univ Colorado, Sch Med, Dept Cell & Dev Biol, Aurora, CO USA.
RP Law, AJ (reprint author), Univ Colorado, Sch Med, Dept Psychiat, Aurora, CO 80045 USA.
EM amanda.law@ucdenver.edu
FU National Institute of Mental Health; Brain Behavior Research
Foundations, Sidney R. Baer Jr. Award for Schizophrenia Research
FX This work was supported by funds from the Intramural Research Program,
National Institute of Mental Health, and from the Brain Behavior
Research Foundations, Sidney R. Baer Jr. Award for Schizophrenia
Research, awarded to Amanda J. Law at the University of Colorado,
Denver, School of Medicine. The funders had no role in study design,
data collection and analysis, decision to publish, or preparation of the
manuscript.
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Zhang DX, 1997, P NATL ACAD SCI USA, V94, P9562, DOI 10.1073/pnas.94.18.9562
NR 54
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 5
PY 2014
VL 9
IS 8
AR e104172
DI 10.1371/journal.pone.0104172
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO5BW
UT WOS:000341357200084
PM 25093331
ER
PT J
AU Hellendoorn, A
AF Hellendoorn, Annika
TI Understanding social engagement in autism: being different in perceiving
and sharing affordances
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE social cognition; theory of mind; embodied cognition; affordances;
autism spectrum disorder
ID BIOLOGICAL MOTION; YOUNG-CHILDREN; PERCEPTION; FACE; MIND; INDIVIDUALS;
RECOGNITION; DISORDER; SKILLS; SIGNS
AB In the current paper I will argue that the notion of affordances offers an alternative to theory of mind (ToM) approaches in studying social engagement in general and in explaining social engagement in autism spectrum disorder (ASD) specifically. Affordances are the possibilities for action offered by the environment. In contrast to ToM approaches, the concept of affordances implies the complementarity of person and environment and rejects the dualism of mind and behavior. In line with the Gibsonian idea that a child must eventually perceive the affordances of the environment for others as well for herself in order to become socialized, I will hypothesize that individuals with ASD often do not perceive the same affordances in the environment as other people do and have difficulties perceiving others' affordances. This can lead to a disruption of interpersonal behaviors. I will further argue that the methods for studying social engagement should be adapted if we want to take interaction into account.
C1 Univ Utrecht, Ctr Cognit & Motor Disabil, Dept Special Educ, NL-3508 TC Utrecht, Netherlands.
RP Hellendoorn, A (reprint author), Univ Utrecht, Ctr Cognit & Motor Disabil, Dept Special Educ, Heidelberglaan 1,POB 80-140, NL-3508 TC Utrecht, Netherlands.
EM A.Hellendoorn@uu.nl
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NR 48
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD AUG 4
PY 2014
VL 5
AR 850
DI 10.3389/fpsyg.2014.00850
PG 5
WC Psychology, Multidisciplinary
SC Psychology
GA AN6LJ
UT WOS:000340705700001
PM 25136327
ER
PT J
AU Hill, DA
Flores, MM
Kearley, RF
AF Hill, Doris Adams
Flores, Margaret M.
Kearley, Regina F.
TI Maximizing ESY Services: Teaching Pre-Service Teachers to Assess
Communication Skills and Implement Picture Exchange With Students With
Autism Spectrum Disorder and Developmental Disabilities
SO TEACHER EDUCATION AND SPECIAL EDUCATION
LA English
DT Article
DE PECS (TM); autism spectrum disorder; communication; pre-service
teachers; ESY Services
ID SYSTEM PECS; SPEECH DEVELOPMENT; CHILDREN; METAANALYSIS; INDIVIDUALS
AB The authors supervised and trained pre-service teachers while conducting extended school year (ESY) services for pre-kindergarten and elementary students with autism spectrum disorder (ASD) and other developmental disabilities (DD). Each classroom was responsible for conducting communication assessments and developing interventions focused on increasing functional communication. One intervention, the Picture Exchange Communication System (PECS (TM)), was taught to three pre-service teachers and staff who implemented PECS (TM) with four students who lacked functional communication skills. The teachers were mentored as they implemented the appropriate level of PECS (TM) and developed communication books for the students to use in school, home, and other settings.
C1 [Hill, Doris Adams] Auburn Univ, Dept Special Educ Rehabil & Counseling, Educ & Community Supports, Auburn, AL 36849 USA.
[Flores, Margaret M.] Auburn Univ, Dept Special Educ Rehabil & Counseling, Special Educ, Auburn, AL 36849 USA.
[Kearley, Regina F.] Auburn Univ, Special Edcuat, Auburn, AL 36849 USA.
RP Hill, DA (reprint author), Auburn Univ, Dept Special Educ Rehabil & Counseling, 215 South Donahue Dr, Auburn, AL 36849 USA.
EM hilldol@auburn.edu
CR Arthur-Kelly M, 2009, DISABIL REHABIL, V31, P1474, DOI 10.1080/09638280802590629
Bondy A, 2012, PSYCHOL REC, V62, P789
Bondy A. S., 1994, FOCUS AUTISTIC BEHAV, V9, P1, DOI DOI 10.1177/108835769400900301
Canella-Malone H., 2010, J PHYS DISABILITIES, V22, P149
Carr D, 2007, J AUTISM DEV DISORD, V37, P724, DOI 10.1007/s10803-006-0203-1
Carr D., 2007, J AUTISM DEV DISORD, V37, P280
Charlop-Christy MH, 2002, J APPL BEHAV ANAL, V35, P213, DOI 10.1901/jaba.2002.35-213
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National Autism Center, 2009, EV BAS PRACT AUT SCH
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Yell M., 2012, LAW SPECIAL ED
Yoder P, 2006, J CONSULT CLIN PSYCH, V74, P426, DOI 10.1037/0022-006X.74.3.426
NR 29
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0888-4064
EI 1944-4931
J9 TEACH EDUC SPEC EDUC
JI Teach. Educ. Spec. Educ.
PD AUG
PY 2014
VL 37
IS 3
BP 241
EP 254
DI 10.1177/0888406414527117
PG 14
WC Education & Educational Research
SC Education & Educational Research
GA CI3MM
UT WOS:000354651900004
ER
PT J
AU Bernardi, RE
Spanagel, R
AF Bernardi, Rick E.
Spanagel, Rainer
TI Enhanced Extinction of Contextual Fear Conditioning in Clock Delta 19
Mutant Mice
SO BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE circadian; clock; Clock Delta 19 mutant mice; contextual fear
conditioning; dopamine; extinction; modafinil
ID PLACE PREFERENCE; CIRCADIAN CLOCK; DOPAMINE; COCAINE; RECEPTOR; GENE;
ACQUISITION; BEHAVIORS; MODAFINIL; MUTATION
AB Clock genes have been implicated in several disorders, such as schizophrenia, bipolar disorder, autism spectrum disorders, and drug dependence. However, few studies to date have examined the role of clock genes in fear-related behaviors. The authors used mice with the Clock Delta 19 mutation to assess the involvement of this gene in contextual fear conditioning. Male wild-type (WT) and Clock Delta 19 mutant mice underwent a single session of contextual fear conditioning (12 min, 4 unsignaled shocks), followed by daily 12-min retention trials. There were no differences between mutant and WT mice in the acquisition of contextual fear, and WT and mutant mice demonstrated similar freezing during the first retention session. However, extinction of contextual fear was accelerated in mutant mice across the remaining retention sessions, as compared to WT mice, suggesting a role for Clock in extinction following aversive learning. Because the Clock Delta 19 mutation has previously been demonstrated to result in an increase in dopamine signaling, the authors confirmed the role of dopamine in extinction learning using preretention session administration of a low dose of the dopamine transport reuptake inhibitor modafinil (0.75 mg/kg), which resulted in decreased freezing across retention sessions. These findings are consistent with an emerging portrayal of the importance of Clock genes in noncircadian functions, as well as the important role of dopamine in extinction learning.
C1 [Bernardi, Rick E.; Spanagel, Rainer] Heidelberg Univ, Med Fac Mannheim, Cent Inst Mental Hlth, Inst Psychopharmacol, Mannheim, Germany.
RP Bernardi, RE (reprint author), Cent Inst Mental Hlth, Inst Psychopharmacol, J5, D-68159 Mannheim, Germany.
EM rick.bernardi@zi-mannheim.de
FU Deutsche Forschungsgemeinschaft (DFG) [SPP1226, SP 383/4-1]
FX Rick E. Bernardi was supported by a grant from the Deutsche
Forschungsgemeinschaft (DFG, SPP1226, SP 383/4-1). We report no
conflicts of interest.
CR Abraham AD, 2014, NEUROBIOL LEARN MEM, V108, P65, DOI 10.1016/j.nlm.2013.11.007
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Bernardi RE, 2013, DRUG ALCOHOL DEPEN, V133, P733, DOI 10.1016/j.drugalcdep.2013.08.024
Bernardi RE, 2010, BEHAV NEUROSCI, V124, P204, DOI 10.1037/a0018909
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NR 27
TC 0
Z9 0
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0735-7044
EI 1939-0084
J9 BEHAV NEUROSCI
JI Behav. Neurosci.
PD AUG
PY 2014
VL 128
IS 4
BP 468
EP 473
DI 10.1037/a0037020
PG 6
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA CA8KQ
UT WOS:000349169300006
PM 24865659
ER
PT J
AU Bone, D
Lee, CC
Black, MP
Williams, ME
Lee, S
Levitt, P
Narayanan, S
AF Bone, Daniel
Lee, Chi-Chun
Black, Matthew P.
Williams, Marian E.
Lee, Sungbok
Levitt, Pat
Narayanan, Shrikanth
TI The Psychologist as an Interlocutor in Autism Spectrum Disorder
Assessment: Insights From a Study of Spontaneous Prosody
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE autism spectrum disorder; children; prosody; social communication;
assessment; dyadic interaction
ID HIGH-FUNCTIONING AUTISM; CLASSIFICATION-SYSTEM SDCS; BREATHY VOCAL
QUALITY; CHILDREN; SPEECH; COMMUNICATION; LANGUAGE; EMOTION; EXTENSIONS;
ENGAGEMENT
AB Purpose: The purpose of this study was to examine relationships between prosodic speech cues and autism spectrum disorder (ASD) severity, hypothesizing a mutually interactive relationship between the speech characteristics of the psychologist and the child. The authors objectively quantified acoustic-prosodic cues of the psychologist and of the child with ASD during spontaneous interaction, establishing a methodology for future large-sample analysis.
Method: Speech acoustic-prosodic features were semiautomatically derived from segments of semistructured interviews (Autism Diagnostic Observation Schedule, ADOS; Lord, Rutter, DiLavore, & Risi, 1999; Lord et al., 2012) with 28 children who had previously been diagnosed with ASD. Prosody was quantified in terms of intonation, volume, rate, and voice quality. Research hypotheses were tested via correlation as well as hierarchical and predictive regression between ADOS severity and prosodic cues.
Results: Automatically extracted speech features demonstrated prosodic characteristics of dyadic interactions. As rated ASD severity increased, both the psychologist and the child demonstrated effects for turn-end pitch slope, and both spoke with atypical voice quality. The psychologist's acoustic cues predicted the child's symptom severity better than did the child's acoustic cues.
Conclusion: The psychologist, acting as evaluator and interlocutor, was shown to adjust his or her behavior in predictable ways based on the child's social-communicative impairments. The results support future study of speech prosody of both interaction partners during spontaneous conversation, while using automatic computational methods that allow for scalable analysis on much larger corpora.
C1 [Bone, Daniel; Lee, Chi-Chun; Black, Matthew P.; Lee, Sungbok; Narayanan, Shrikanth] Univ So Calif, SAIL, Los Angeles, CA 90095 USA.
[Williams, Marian E.] Univ So Calif, Keck Sch Med, Univ Ctr Excellence Dev Disabil, Los Angeles, CA 90033 USA.
[Williams, Marian E.; Levitt, Pat] Childrens Hosp Los Angeles, Los Angeles, CA USA.
[Levitt, Pat] Univ So Calif, Keck Sch Med, Los Angeles, CA 90033 USA.
RP Bone, D (reprint author), Univ So Calif, SAIL, Los Angeles, CA 90095 USA.
EM dbone@usc.edu
FU National Science Foundation; National Institutes of Health [PL-R21
HD065289]
FX This research was supported by funds from the National Science
Foundation and by National Institutes of Health Grant PL-R21 HD065289.
We are grateful to Sylvia Acosta and Irina Zamora for their
administration of the ADOS and to Marcia Higareda for her recruiting
efforts.
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Speech-Language-Hearing Association, 2007, CHILDH APR SPEECH
American Speech-Language-Hearing Association, 2007, TECHNICAL REPORT
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NR 70
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD AUG
PY 2014
VL 57
IS 4
BP 1162
EP 1177
DI 10.1044/2014_JSLHR-S-13-0062
PG 16
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4NF
UT WOS:000348198000003
PM 24686340
ER
PT J
AU Whitehouse, AJO
Shelton, WMR
Ing, C
Newnham, JP
AF Whitehouse, Andrew J. O.
Shelton, W. M. R.
Ing, Caleb
Newnham, John P.
TI Prenatal, Perinatal, and Neonatal Risk Factors for Specific Language
Impairment: A Prospective Pregnancy Cohort Study
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE specific language impairment; prenatal; obstetric
ID OBSTETRIC COMPLICATIONS; FOLLOW-UP; AUTISM; CHILDREN; DISORDERS;
OUTCOMES; ATTRITION
AB Purpose: Although genetic factors are known to play a causal role in specific language impairment (SLI), environmental factors may also be important. This study examined whether there are prenatal, perinatal, and neonatal factors that are associated with childhood SLI.
Method: Participants were members of the Raine Study, a prospective cohort investigation of pregnant women and their offspring. Parent report indicated that 26 children had received a clinical diagnosis of SLI. Data from antenatal and birth medical records were compared between the children with SLI and typically developing comparison children (N = 1,799).
Results: There were no statistically significant differences between the SLI and comparison groups in the individual prenatal, perinatal, and neonatal factors examined. Aggregate risk scores were calculated for each period on the basis of factors known to be associated with neurodevelopmental disorder. There were no group differences in aggregate risk scores in the prenatal and perinatal periods. However, significantly more children in the SLI group (50%) compared with the comparison group (27.6%) experienced 2 or more risk factors during the neonatal period.
Conclusion: The vast majority of prenatal, perinatal, and neonatal complications do not play a clear causal role in childhood SLI. However, poor neonatal health may signify increased risk for SLI.
C1 [Whitehouse, Andrew J. O.; Shelton, W. M. R.] Univ Western Australia, Telethon Kids Inst, Perth, WA 6009, Australia.
[Ing, Caleb] Columbia Univ Coll Phys & Surg, New York, NY 10032 USA.
[Newnham, John P.] Univ Western Australia, Sch Womens & Infants Hlth, Perth, WA 6009, Australia.
RP Whitehouse, AJO (reprint author), Univ Western Australia, Telethon Kids Inst, Perth, WA 6009, Australia.
EM awhitehouse@ichr.uwa.edu.au
FU National Health and Medical Research Council (NHMRC); University of
Western Australia (UWA); Curtin University; UWA Faculty of Medicine,
Dentistry and Health Sciences; Raine Medical Research Foundation;
Telethon Institute for Child Health Research; Women and Infants Research
Foundation; NHMRC [1004065, 1003424]
FX The authors would like to acknowledge the National Health and Medical
Research Council (NHMRC) for its long-term contribution to funding the
study over the last 20 years. Core Management of the Raine Study has
been funded by the University of Western Australia (UWA); Curtin
University; the UWA Faculty of Medicine, Dentistry and Health Sciences;
the Raine Medical Research Foundation; the Telethon Institute for Child
Health Research; and the Women and Infants Research Foundation. Andrew
J. O. Whitehouse is funded by a Career Development Fellowship from the
NHMRC (No. 1004065). This study was partly funded by NHMRC Project Grant
No. 1003424. These funders had no further role in study design,
analysis, data interpretation, or manuscript writing and submission. The
authors are extremely grateful to all of the families who took part in
this study and the whole Raine Study team, which includes the cohort
manager, data manager, and data collection team.
CR Albers LL, 1996, OBSTET GYNECOL, V87, P355, DOI 10.1016/0029-7844(95)00423-8
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
[Anonymous], 1992, INT STAT CLASS DIS R
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NR 39
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD AUG
PY 2014
VL 57
IS 4
BP 1418
EP 1427
DI 10.1044/2014_JSLHR-L-13-0186
PG 10
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4NF
UT WOS:000348198000023
PM 24686440
ER
PT J
AU Kover, ST
Weismer, SE
AF Kover, Sara T.
Weismer, Susan Ellis
TI Lexical Characteristics of Expressive Vocabulary in Toddlers With Autism
Spectrum Disorder
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE autism; statistical learning; vocabulary; language development;
production
ID LATE-TALKING TODDLERS; COMMUNICATIVE DEVELOPMENT; SIMILARITY
NEIGHBORHOODS; PHONOTACTIC PROBABILITY; LANGUAGE-ACQUISITION; COGNITIVE
SKILLS; WORKING-MEMORY; YOUNG-CHILDREN; INFANTS; PRESCHOOLERS
AB Purpose: Vocabulary is a domain of particular challenge for many children with autism spectrum disorder (ASD). Recent research has drawn attention to ways in which lexical characteristics relate to vocabulary acquisition. The current study tested the hypothesis that lexical characteristics account for variability in vocabulary size of young children with ASD, applying the extended statistical learning theory of vocabulary delay in late talkers (Stokes, Kern, & Dos Santos, 2012) to toddlers with ASD.
Method: Parents reported the words produced by toddlers with ASD (n = 57; age 21-37 months) or toddlers without ASD (n = 41; age 22-26 months) on the MacArthur-Bates Communicative Development Inventories. The average phonological neighborhood density, word frequency, and word length of each toddler's lexicon were calculated. These lexical characteristics served as predictors of vocabulary size.
Results: Findings differed for toddlers with and without ASD and according to subsamples. Word length was the most consistent predictor of vocabulary size for toddlers with ASD.
Conclusions: Distinct relationships between lexical characteristics and vocabulary size were observed for toddlers with and without ASD. Experimental studies on distributional cues to vocabulary acquisition are needed to inform what is known about mechanisms of learning in neurodevelopmental disorders.
C1 [Kover, Sara T.; Weismer, Susan Ellis] Waisman Ctr Mental Retardat & Human Dev, Madison, WI 53705 USA.
[Kover, Sara T.; Weismer, Susan Ellis] Univ Wisconsin, Madison, WI 53706 USA.
RP Kover, ST (reprint author), Univ Washington, Seattle, WA 98195 USA.
EM skover@u.washington.edu
FU National Institutes of Health [R01 DC07223, R01 DC03731, T32 DC05359,
P30 HD03352]
FX This research was supported by National Institutes of Health Grants R01
DC07223, R01 DC03731, T32 DC05359 (Susan Ellis Weismer, principal
investigator [PI]), and P30 HD03352 (Marsha Mailick, PI). We offer
sincere appreciation to the families who participated in this study. A
portion of these data was presented at the 2013 biennial meeting of the
Society for Research in Child Development in Seattle, Washington.
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NR 69
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD AUG
PY 2014
VL 57
IS 4
BP 1428
EP 1441
DI 10.1044/2014_JSLHR-L-13-0006
PG 14
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4NF
UT WOS:000348198000024
PM 24687027
ER
PT J
AU Langone, SR
Luiselli, JK
Galvin, D
Hamill, J
AF Langone, Serra R.
Luiselli, James K.
Galvin, Denise
Hamill, Jessica
TI Effects of Fixed-Time Release Fading on Frequency and Duration of
Aggression-Contingent Physical Restraint (Protective Holding) in a Child
With Autism
SO CLINICAL CASE STUDIES
LA English
DT Article
DE physical restraint; autism; aggression; restraint reduction; fixed-time
release fading
ID BEHAVIOR; INJURY; STAFF; IMPLEMENTATION; INTERVENTION; DISABILITIES;
ADOLESCENTS; PEOPLE; SAFETY
AB We report the case of an 11-year-old boy with autism who displayed aggressive behavior and required aggression-contingent physical restraint (protective holding) to protect peers and teachers from injury. During a baseline phase, teachers implemented the boy's behavior support plan and applied protective holding according to a behavior-contingent release (BCR) criterion in which they maintained physical contact with him until he was "calm" for a minimum of 30 consecutive seconds. In the intervention phase, baseline procedures remained in effect, but the teachers terminated protective holding with the boy according to a fixed-time release (FTR) criterion that was independent of his behavior during protective holding and faded (decreased) systematically over time. In contrast to BCR, FTR fading was associated with less exposure to and fewer applications of protective holding. Post-intervention and follow-up results revealed that protective holding was no longer required. We discuss the clinical implications of these findings.
C1 [Langone, Serra R.; Luiselli, James K.; Galvin, Denise; Hamill, Jessica] May Inst, Randolph, MA 02368 USA.
RP Luiselli, JK (reprint author), May Inst, 41 Pacella Pk Dr, Randolph, MA 02368 USA.
EM jluiselli@mayinstitute.org
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NR 31
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1534-6501
EI 1552-3802
J9 CLIN CASE STUD
JI Clin. Case Stud.
PD AUG
PY 2014
VL 13
IS 4
BP 313
EP 321
DI 10.1177/1534650113509305
PG 9
WC Psychology, Clinical; Psychiatry
SC Psychology; Psychiatry
GA AW9PK
UT WOS:000346589300002
ER
PT J
AU Kover, ST
Haebig, E
Oakes, A
McDuffie, A
Hagerman, RJ
Abbeduto, L
AF Kover, Sara T.
Haebig, Eileen
Oakes, Ashley
McDuffie, Andrea
Hagerman, Randi J.
Abbeduto, Leonard
TI Sentence Comprehension in Boys With Autism Spectrum Disorder
SO AMERICAN JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
LA English
DT Article
DE autism; grammar; syntax; receptive language; intellectual disability
ID FRAGILE-X-SYNDROME; DEVELOPMENTAL TRAJECTORIES; INTELLECTUAL
DISABILITIES; METHODOLOGICAL ISSUES; LANGUAGE-ACQUISITION;
PRESCHOOL-CHILDREN; ADOLESCENTS; SKILLS; IMPAIRMENT; DELAY
AB Purpose: Previous research has suggested that language comprehension might be particularly impaired in children with autism spectrum disorder (ASD), but this profile has been only broadly characterized. In the current study, the authors examined sentence comprehension in school-age boys with ASD, including a subgroup with intellectual disability (ID), with particular attention paid to errors that might differentiate between lexically and syntactically based difficulties.
Method: Participants were boys with ASD (n = 45, ages 4-11 years) and younger typically developing boys (n = 45, ages 2-6 years). Comprehension was assessed with the Test for Reception of Grammar-Version 2 (TROG-2; Bishop, 2003). Error types were analyzed for a subset of items.
Results: Boys with ASD did not differ from younger typically developing boys matched on receptive vocabulary in overall sentence comprehension on the TROG-2 or the number of lexical errors committed. In contrast, the subgroup of boys with ASD and ID (n = 16) had poorer overall performance and committed more lexical errors than younger typically developing boys matched on nonverbal cognition.
Conclusions: On average, comprehension was delayed in school-age boys with ASD but not beyond receptive vocabulary expectations. Boys with ASD and ID, however, had a weakness in sentence comprehension beyond nonverbal cognitive expectations.
C1 [Kover, Sara T.; Haebig, Eileen] Univ Wisconsin, Waisman Ctr, Madison, WI 53706 USA.
[Oakes, Ashley; McDuffie, Andrea; Hagerman, Randi J.; Abbeduto, Leonard] Univ Calif Davis, Davis, CA 95616 USA.
RP Kover, ST (reprint author), Univ Washington, Seattle, WA 98195 USA.
EM skover@u.washington.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 44
TC 0
Z9 1
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1058-0360
EI 1558-9110
J9 AM J SPEECH-LANG PAT
JI Am. J. Speech-Lang. Pathol.
PD AUG
PY 2014
VL 23
IS 3
BP 385
EP 394
DI 10.1044/2014_AJSLP-13-0073
PG 10
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AU5ZQ
UT WOS:000345682300002
PM 24687049
ER
PT J
AU Murza, KA
Nye, C
Schwartz, JB
Ehren, BJ
Hahs-Vaughn, DL
AF Murza, Kimberly A.
Nye, Chad
Schwartz, Jamie B.
Ehren, Barbara J.
Hahs-Vaughn, Debbie L.
TI A Randomized Controlled Trial of an Inference Generation Strategy
Intervention for Adults With High-Functioning Autism Spectrum Disorder
SO AMERICAN JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
LA English
DT Article
DE autism; intervention; language; reading; pragmatics; adults
ID ASPERGER-SYNDROME; READING-COMPREHENSION; SOCIAL-PERCEPTION;
YOUNG-ADULTS; CHILDREN; STUDENTS; DISABILITIES; ADOLESCENTS; SKILLS;
MIND
AB Purpose: The present intervention study investigated the efficacy of the ACT & Check Strategy intervention to improve inference generation when reading, metacognitive ability, general reading comprehension, and social inference ability in adults with high-functioning autism spectrum disorder (HF-ASD).
Method: Twenty-five adults with HF-ASD were randomly assigned to either a treatment or a control group. Treatment sessions were conducted in 1-hr sessions, twice a week, for a total of 6 weeks. Treatment focused on explicit instruction of components of inference generation, categories of inferences, and increasingly independent strategy use.
Results: The treatment group demonstrated significantly superior performance on 1 of 2 measures of inference generation in reading and 1 measure of metacognitive ability compared with the control group. Significant differences between groups were not found on measures of reading comprehension or social inference ability.
Conclusion: These findings suggest that the ACT & Check Strategy was effective in improving participants' ability to generate inferences in reading and certain metacognitive abilities, but the skills do not appear to generalize to other social communication contexts, such as social inference generation. This research provides a measure of support for explicitly teaching inference generation to address a reading inference deficit in adults with HF-ASD.
C1 [Murza, Kimberly A.] Univ No Colorado, Greeley, CO 80639 USA.
[Nye, Chad; Schwartz, Jamie B.; Ehren, Barbara J.; Hahs-Vaughn, Debbie L.] Univ Cent Florida, Orlando, FL 32816 USA.
RP Murza, KA (reprint author), Univ No Colorado, Greeley, CO 80639 USA.
EM kimberly.murza@unco.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 82
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1058-0360
EI 1558-9110
J9 AM J SPEECH-LANG PAT
JI Am. J. Speech-Lang. Pathol.
PD AUG
PY 2014
VL 23
IS 3
BP 461
EP 473
DI 10.1044/2014_AJSLP-13-0012
PG 13
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AU5ZQ
UT WOS:000345682300008
PM 24687182
ER
PT J
AU Thiemann-Bourque, KS
Warren, SF
Brady, N
Gilkerson, J
Richards, JA
AF Thiemann-Bourque, Kathy S.
Warren, Steven F.
Brady, Nancy
Gilkerson, Jill
Richards, Jeffrey A.
TI Vocal Interaction Between Children With Down Syndrome and Their Parents
SO AMERICAN JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
LA English
DT Article
DE Down syndrome; speech development; parent-child communication;
vocalizations; automated vocal analysis
ID YOUNG-CHILDREN; INTELLECTUAL DISABILITIES; INFANT VOCALIZATIONS;
COMMUNICATION; INTERVENTION; AUTISM; WORDS; PAIRS
AB Purpose: The purpose of this study was to describe differences in parent input and child vocal behaviors of children with Down syndrome (DS) compared with typically developing (TD) children. The goals were to describe the language learning environments at distinctly different ages in early childhood.
Method: Nine children with DS and 9 age-matched TD children participated; 4 children in each group were ages 9-11 months, and 5 were between 25 and 54 months. Measures were derived from automated vocal analysis. A digital language processor measured the richness of the child's language environment, including number of adult words, conversational turns, and child vocalizations.
Results: Analyses indicated no significant differences in words spoken by parents of younger versus older children with DS and significantly more words spoken by parents of TD children than parents of children with DS. Differences between the DS and TD groups were observed in rates of all vocal behaviors, with no differences noted between the younger versus older children with DS, and the younger TD children did not vocalize significantly more than the younger DS children.
Conclusions: Parents of children with DS continue to provide consistent levels of input across the early language learning years; however, child vocal behaviors remain low after the age of 24 months, suggesting the need for additional and alternative intervention approaches.
C1 [Thiemann-Bourque, Kathy S.; Warren, Steven F.; Brady, Nancy] Univ Kansas, Lawrence, KS 66045 USA.
[Gilkerson, Jill; Richards, Jeffrey A.] LENA Res Fdn, Boulder, CO USA.
RP Thiemann-Bourque, KS (reprint author), Univ Kansas, Lawrence, KS 66045 USA.
EM thiemann@ku.edu
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NR 37
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1058-0360
EI 1558-9110
J9 AM J SPEECH-LANG PAT
JI Am. J. Speech-Lang. Pathol.
PD AUG
PY 2014
VL 23
IS 3
BP 474
EP 485
DI 10.1044/2014_AJSLP-12-0010
PG 12
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AU5ZQ
UT WOS:000345682300009
PM 24686777
ER
PT J
AU Wink, LK
O'Melia, AM
Shaffer, RC
Pedapati, E
Friedmann, K
Schaefer, T
Erickson, CA
AF Wink, Logan K.
O'Melia, Anne M.
Shaffer, Rebecca C.
Pedapati, Ernest
Friedmann, Katherine
Schaefer, Tori
Erickson, Craig A.
TI Intranasal Ketamine Treatment in an Adult With Autism Spectrum Disorder
SO JOURNAL OF CLINICAL PSYCHIATRY
LA English
DT Article
C1 [Wink, Logan K.; Shaffer, Rebecca C.; Pedapati, Ernest; Friedmann, Katherine; Schaefer, Tori; Erickson, Craig A.] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA.
[O'Melia, Anne M.] Univ Cincinnati, Cincinnati, OH USA.
RP Wink, LK (reprint author), Cincinnati Childrens Hosp Med Ctr, 3333 Burnet Ave MLC 4002, Cincinnati, OH 45229 USA.
EM logan.wink@cchmc.org
FU Simons Foundation; John Merck Fund; US Department of Defense; Autism
Speaks; SynapDx; Cures Within Reach; Angelman Syndrome Foundation
FX Dr Wink has been a consultant for Otsuka and has received grant/research
support from Simons Foundation, John Merck Fund, US Department of
Defense, Autism Speaks, SynapDx, and Cures Within Reach. Dr Shaffer has
received grant/research support from Autism Speaks. Dr Erickson has been
a consultant for Alcobra, Roche Group, and Confluence Pharmaceuticals;
has received grant/research support from Simons Foundation, Angelman
Syndrome Foundation, John Merck Fund, US Department of Defense, and
Autism Speaks; and is a stock shareholder in Confluence Pharmaceuticals.
Drs O'Melia, Pedapati, and Schaefer and Ms Friedmann report no potential
conflict of interest.
CR Papolos DF, 2013, J AFFECT DISORDERS, V147, P431, DOI 10.1016/j.jad.2012.08.040
Tottenham N, 2002, 9 ANN M COGN NEUR SO
Zarate CA, 2006, ARCH GEN PSYCHIAT, V63, P856, DOI 10.1001/archpsyc.63.8.856
NR 3
TC 0
Z9 0
PU PHYSICIANS POSTGRADUATE PRESS
PI MEMPHIS
PA P O BOX 752870, MEMPHIS, TN 38175-2870 USA
SN 0160-6689
EI 1555-2101
J9 J CLIN PSYCHIAT
JI J. Clin. Psychiatry
PD AUG
PY 2014
VL 75
IS 8
BP 835
EP 836
DI 10.4088/JCP.13cr08917
PG 2
WC Psychology, Clinical; Psychiatry
SC Psychology; Psychiatry
GA AU3RC
UT WOS:000345530300010
PM 25191906
ER
PT J
AU Du Bois, JW
Hobson, RP
Hobson, JA
AF Du Bois, John W.
Hobson, R. Peter
Hobson, Jessica A.
TI Dialogic resonance and intersubjective engagement in autism
SO COGNITIVE LINGUISTICS
LA English
DT Article
DE autism; resonance; dialogic syntax; structural priming;
intersubjectivity; identification; stance; attitude; linkage; engagement
ID LANGUAGE PRODUCTION; JOINT ATTENTION; CHILDREN; COMMUNICATION;
IDENTIFICATION; CONVERSATION; IMPAIRMENTS; PSYCHOLOGY; IMITATION;
DISORDER
AB How can we investigate the relation between language and the human capacity for intersubjective engagement? Here we combine insights from linguistics and psychology to study the language of children with autism. We begin by reviewing why it might be worthwhile to study autism from the perspective of dialogic resonance, defined as the catalytic activation of affinities across utterances. Then we report on a controlled study of conversations involving individual children with autism and an interested adult interviewer. According to reliable ratings of the transcribed conversations, each considered as a whole, the speech of participants with autism was characterized by atypical forms of dialogic resonance. On the other hand, the children with autism were similar to control participants insofar as their conversations manifested "typically developed frame grabs" in which dialogic resonance was accompanied by a coherent expansion. These findings were compatible with those that emerged from utterance-by-utterance analyses of the same conversations reported elsewhere (Hobson et al. 2012). To complement the quantitative findings, we present illustrative excerpts of language use. We consider how dialogic resonance relates to structural priming, and consider implications for understanding the relations among intersubjectivity, language, and autism.
C1 [Du Bois, John W.] Univ Calif Santa Barbara, Dept Linguist, Santa Barbara, CA 93106 USA.
[Hobson, R. Peter] UCL, Tavistock Clin, London WC1E 6BT, England.
[Hobson, R. Peter] UCL, Inst Child Hlth, London WC1E 6BT, England.
[Hobson, Jessica A.] Sonoma State Univ & Univ Coll, London, England.
RP Du Bois, JW (reprint author), Univ Calif Santa Barbara, Dept Linguist, Santa Barbara, CA 93106 USA.
EM dubois@linguistics.ucsb.edu; r.hobson@ucl.ac.uk;
jessica.hobson@sonoma.edu
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NR 60
TC 0
Z9 0
PU DE GRUYTER MOUTON
PI BERLIN
PA GENTHINER STRASSE 13, 10785 BERLIN, GERMANY
SN 0936-5907
EI 1613-3641
J9 COGN LINGUIST
JI Cogn. Linguist
PD AUG
PY 2014
VL 25
IS 3
SI SI
BP 411
EP 441
DI 10.1515/cog-2014-0025
PG 31
WC Linguistics; Language & Linguistics
SC Linguistics
GA AT7EB
UT WOS:000345098600003
ER
PT J
AU Charles, R
Sakurai, T
Takahashi, N
Elder, GA
Sosa, MAG
Young, LJ
Buxbaum, JD
AF Charles, Rhonda
Sakurai, Takeshi
Takahashi, Nagahide
Elder, Gregory A.
Sosa, Miguel A. Gama
Young, Larry J.
Buxbaum, Joseph D.
TI Introduction of the human AVPR1A gene substantially alters brain
receptor expression patterns and enhances aspects of social behavior in
transgenic mice
SO DISEASE MODELS & MECHANISMS
LA English
DT Article
DE AVPR1A; Humanized mouse; Social behavior; Species-specific;
Microsatellite; Autism
ID ANXIETY-RELATED BEHAVIOR; VASOPRESSIN RECEPTOR; KNOCKOUT MICE; PREPULSE
INHIBITION; PROMOTER REGION; PSYCHIATRIC-DISORDERS; MONOGAMOUS VOLE;
BINDING-SITES; MESSENGER-RNA; V-1A RECEPTOR
AB Central arginine vasopressin receptor 1A(AVPR1A) modulates a wide range of behaviors, including stress management and territorial aggression, as well as social bonding and recognition. Inter- and intra-species variations in the expression pattern of AVPR1A in the brain and downstream differential behavioral phenotypes have been attributed to differences in the non-coding regions of the AVPR1A gene, including polymorphic elements within upstream regulatory areas. Gene association studies have suggested a link between AVPR1A polymorphisms and autism, and AVPR1A has emerged as a potential pharmacological target for treatment of social cognitive impairments and mood and anxiety disorders. To further investigate the genetic mechanism giving rise to species differences in AVPR1A expression patterns and associated social behaviors, and to create a preclinical mouse model useful for screening drugs targeting AVPR1A, we engineered and extensively characterized bacterial artificial chromosome(BAC) transgenic mice harboring the entire human AVPR1A locus with the surrounding regulatory elements. Compared with wild-type animals, the humanized mice displayed a more widely distributed ligand-AVPR1A binding pattern, which overlapped with that of primates. Furthermore, humanized AVPR1A mice displayed increased reciprocal social interactions compared with wild-type animals, but no differences in social approach and preference for social novelty were observed. Aspects of learning and memory, specifically novel object recognition and spatial relocation recognition, were unaffected. The biological alterations in humanized AVPR1A mice resulted in the rescue of the prepulse inhibition impairments that were observed in knockout mice, indicating conserved functionality. Although further behavioral paradigms and additional cohorts need to be examined in humanized AVPR1A mice, the results demonstrate that species-specific variations in the genomic content of regulatory regions surrounding the AVPR1A locus are responsible for differential receptor protein expression patterns across species and that they are likely to contribute to species-specific behavioral variation. The humanized AVPR1A mouse is a potential preclinical model for further understanding the regulation of receptor gene expression and the impact of variation in receptor expression on behaviors, and should be useful for screening drugs targeting human AVPR1A, taking advantage of the expression of human AVPR1A in human-relevant brain regions.
C1 [Charles, Rhonda; Sakurai, Takeshi; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA.
[Charles, Rhonda; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA.
[Sakurai, Takeshi; Takahashi, Nagahide; Elder, Gregory A.; Sosa, Miguel A. Gama; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA.
[Elder, Gregory A.] Icahn Sch Med Mt Sinai, Dept Neurol, New York, NY 10029 USA.
[Elder, Gregory A.] James J Peters VA Med Ctr, Neurol Serv, Bronx, NY 10468 USA.
[Sosa, Miguel A. Gama] James J Peters VA Med Ctr, Res & Dev Serv, Bronx, NY 10468 USA.
[Young, Larry J.] Emory Univ, Yerkes Natl Primate Res Ctr, Dept Psychiat & Behav Sci, Ctr Translat Social Neurosci, Atlanta, GA 30329 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY 10029 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY 10029 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA.
RP Buxbaum, JD (reprint author), Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA.
EM joseph.buxbaum@mssm.edu
FU Seaver Foundation; Autism Science Foundation; National Institutes of
Health [MH056897, MH064692, P51OD11132]
FX This work was supported by the Seaver Foundation and a predoctoral
fellowship from the Autism Science Foundation to R. C. Additional
support was provided by National Institutes of Health grants [MH056897
and MH064692 to L.J.Y. and P51OD11132 to Yerkes National Primate
Research Center].
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NR 55
TC 0
Z9 0
PU COMPANY OF BIOLOGISTS LTD
PI CAMBRIDGE
PA BIDDER BUILDING CAMBRIDGE COMMERCIAL PARK COWLEY RD, CAMBRIDGE CB4 4DL,
CAMBS, ENGLAND
SN 1754-8403
EI 1754-8411
J9 DIS MODEL MECH
JI Dis. Model. Mech.
PD AUG
PY 2014
VL 7
IS 8
BP 1013
EP 1022
DI 10.1242/dmm.017053
PG 10
WC Cell Biology; Pathology
SC Cell Biology; Pathology
GA AT5TF
UT WOS:000345004200009
PM 24924430
ER
PT J
AU Duda, M
Kosmicki, JA
Wall, DP
AF Duda, M.
Kosmicki, J. A.
Wall, D. P.
TI Testing the accuracy of an observation-based classifier for rapid
detection of autism risk
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID DIAGNOSTIC-OBSERVATION-SCHEDULE; SPECTRUM DISORDERS; REVISED ALGORITHMS;
ADOS SCORES; SEVERITY; CHILDREN
AB Current approaches for diagnosing autism have high diagnostic validity but are time consuming and can contribute to delays in arriving at an official diagnosis. In a pilot study, we used machine learning to derive a classifier that represented a 72% reduction in length from the gold-standard Autism Diagnostic Observation Schedule-Generic (ADOS-G), while retaining >97% statistical accuracy. The pilot study focused on a relatively small sample of children with and without autism. The present study sought to further test the accuracy of the classifier (termed the observation-based classifier (OBC)) on an independent sample of 2616 children scored using ADOS from five data repositories and including both spectrum (n = 2333) and non-spectrum (n = 283) individuals. We tested OBC outcomes against the outcomes provided by the original and current ADOS algorithms, the best estimate clinical diagnosis, and the comparison score severity metric associated with ADOS-2. The OBC was significantly correlated with the ADOS-G (r = -0.814) and ADOS-2 (r = -0.779) and exhibited >97% sensitivity and >77% specificity in comparison to both ADOS algorithm scores. The correspondence to the best estimate clinical diagnosis was also high (accuracy = 96.8%), with sensitivity of 97.1% and specificity of 83.3%. The correlation between the OBC score and the comparison score was significant (r = -0.628), suggesting that the OBC provides both a classification as well as a measure of severity of the phenotype. These results further demonstrate the accuracy of the OBC and suggest that reductions in the process of detecting and monitoring autism are possible.
C1 [Duda, M.; Wall, D. P.] Stanford Univ, Div Syst Med, Dept Pediat, Stanford, CA 94305 USA.
[Kosmicki, J. A.] Massachusetts Gen Hosp, Dept Med, Analyt & Translat Genet Unit, Boston, MA 02114 USA.
[Kosmicki, J. A.] Harvard Univ, Sch Med, Boston, MA USA.
[Kosmicki, J. A.] Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA.
RP Wall, DP (reprint author), Stanford Univ, Div Syst Med, Dept Pediat, 1265 Welch Rd, Stanford, CA 94305 USA.
EM dpwall@stanford.edu
FU Simons Foundation; Nancy Lurie Marks Family Foundation; Harvard Catalyst
Program; National Institutes of Health [1R01MH090611-01A1]
FX Work was supported in part by funds to DPW from the Simons Foundation,
Nancy Lurie Marks Family Foundation, the Harvard Catalyst Program, and
grant 1R01MH090611-01A1 from the National Institutes of Health. We thank
the reviewers whose comments substantially improved the quality of the
manuscript. We also thank the families who contributed the data that
made this study possible.
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NR 21
TC 2
Z9 2
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD AUG
PY 2014
VL 4
AR e424
DI 10.1038/tp.2014.65
PG 6
WC Psychiatry
SC Psychiatry
GA AT3HR
UT WOS:000344826900005
PM 25116834
ER
PT J
AU Pathania, M
Davenport, EC
Muir, J
Sheehan, DF
Lopez-Domenech, G
Kittler, JT
AF Pathania, M.
Davenport, E. C.
Muir, J.
Sheehan, D. F.
Lopez-Domenech, G.
Kittler, J. T.
TI The autism and schizophrenia associated gene CYFIP1 is critical for the
maintenance of dendritic complexity and the stabilization of mature
spines (vol 4, pg e374, 2014)
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Correction
CR DERUBEIS, 2014, TRANSL PSYCHIAT, V4, pE374, DOI DOI 10.1038/TP.2014.16
NR 1
TC 1
Z9 1
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD AUG
PY 2014
VL 4
AR e423
DI 10.1038/tp.2014.36
PG 1
WC Psychiatry
SC Psychiatry
GA AT3HR
UT WOS:000344826900004
ER
PT J
AU Squillace, M
Dodero, L
Federici, M
Migliarini, S
Errico, F
Napolitano, F
Krashia, P
Di Maio, A
Galbusera, A
Bifone, A
Scattoni, ML
Pasqualetti, M
Mercuri, NB
Usiello, A
Gozzi, A
AF Squillace, M.
Dodero, L.
Federici, M.
Migliarini, S.
Errico, F.
Napolitano, F.
Krashia, P.
Di Maio, A.
Galbusera, A.
Bifone, A.
Scattoni, M. L.
Pasqualetti, M.
Mercuri, N. B.
Usiello, A.
Gozzi, A.
TI Dysfunctional dopaminergic neurotransmission in asocial BTBR mice
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID AUTISM SPECTRUM DISORDER; T PLUS TF/J; SOCIAL ANXIETY DISORDER; GLUR1
AMPA RECEPTOR; MOUSE MODEL; NUCLEUS-ACCUMBENS; D2 RECEPTORS; T+TF/J
MICE; UNUSUAL REPERTOIRE; IN-VIVO
AB Autism spectrum disorders (ASD) are neurodevelopmental conditions characterized by pronounced social and communication deficits and stereotyped behaviours. Recent psychosocial and neuroimaging studies have highlighted reward-processing deficits and reduced dopamine (DA) mesolimbic circuit reactivity in ASD patients. However, the neurobiological and molecular determinants of these deficits remain undetermined. Mouse models recapitulating ASD-like phenotypes could help generate hypotheses about the origin and neurophysiological underpinnings of clinically relevant traits. Here we used functional magnetic resonance imaging (fMRI), behavioural and molecular readouts to probe dopamine neurotransmission responsivity in BTBR T+ Itpr3(tf)/J mice (BTBR), an inbred mouse line widely used to model ASD-like symptoms owing to its robust social and communication deficits, and high level of repetitive stereotyped behaviours. C57BL/6J (B6) mice were used as normosocial reference comparators. DA reuptake inhibition with GBR 12909 produced significant striatal DA release in both strains, but failed to elicit fMRI activation in widespread forebrain areas of BTBR mice, including mesolimbic reward and striatal terminals. In addition, BTBR mice exhibited no appreciable motor responses to GBR 12909. DA D1 receptor-dependent behavioural and signalling responses were found to be unaltered in BTBR mice, whereas dramatic reductions in pre-and postsynaptic DA D2 and adenosine A2A receptor function was observed in these animals. Overall these results document profoundly compromised DA D2-mediated neurotransmission in BTBR mice, a finding that is likely to have a role in the distinctive social and behavioural deficits exhibited by these mice. Our results call for a deeper investigation of the role of dopaminergic dysfunction in mouse lines exhibiting ASD-like phenotypes, and possibly in ASD patient populations.
C1 [Squillace, M.; Errico, F.; Napolitano, F.; Di Maio, A.; Usiello, A.] Ceinge Biotecnol Avanzate, Naples, Italy.
[Dodero, L.; Galbusera, A.; Bifone, A.; Gozzi, A.] Ist Italiano Tecnol, Ctr Neurosci & Cognit Syst, Rovereto, Italy.
[Dodero, L.] Ist Italiano Tecnol, Genoa, Italy.
[Federici, M.; Krashia, P.; Mercuri, N. B.] Univ Roma Tor Vergata, Dept Syst Med, Rome, Italy.
[Federici, M.; Mercuri, N. B.] IRCCS Fdn Santa Lucia, Lab Neurol Sperimentale, Rome, Italy.
[Migliarini, S.; Pasqualetti, M.] Univ Pisa, Dept Biol, Unit Cell & Dev Biol, Pisa, Italy.
[Errico, F.; Napolitano, F.] Univ Naples Federico II, Dept Mol Med & Med Biotechnol, Naples, Italy.
[Scattoni, M. L.] Ist Super Sanita, Neurotoxicol & Neuroendocrinol Sect, Dept Cell Biol & Neurosci, I-00161 Rome, Italy.
[Usiello, A.] Univ Naples 2, Dept Environm Biol & Pharmaceut Sci & Technol, Caserta, Italy.
RP Usiello, A (reprint author), Ceinge Biotecnol Avanzate, Naples, Italy.
EM Alessandro.usiello@ceinge.it; alessandro.gozzi@iit.it
FU Istituto Italiano di Tecnologia; NARSAD, Italian Ministry of Health
'Young investigators' [GR3-2008]; Simons Foundation [SFARI 314688]
FX The study was funded by the Istituto Italiano di Tecnologia, and
supported by a NARSAD Independent Investigator 2013 award (AU), Italian
Ministry of Health 'Young investigators' GR3-2008 (MLS) and by a grant
from the Simons Foundation (SFARI 314688, AG).
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NR 97
TC 2
Z9 2
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD AUG
PY 2014
VL 4
AR e427
DI 10.1038/tp.2014.69
PG 11
WC Psychiatry
SC Psychiatry
GA AT3HR
UT WOS:000344826900008
PM 25136890
ER
PT J
AU Grainger, C
Williams, DM
Lind, SE
AF Grainger, Catherine
Williams, David M.
Lind, Sophie E.
TI Metacognition, Metamemory, and Mindreading in High-Functioning Adults
With Autism Spectrum Disorder
SO JOURNAL OF ABNORMAL PSYCHOLOGY
LA English
DT Article
DE autism; metacognition; metamemory; feeling-of-knowing; theory of mind;
mindreading
ID ASPERGER SYNDROME; AMNESIC PATIENTS; MEMORY; SELF; CHILDREN; MIND;
INDIVIDUALS; EXPERIENCE; JUDGMENTS; KNOWLEDGE
AB Metacognition refers to cognition about cognition and encompasses both knowledge of cognitive processes and the ability to monitor and control one's own cognitions. The current study aimed to establish whether metacognition is impaired in autism spectrum disorder (ASD). According to some theories, the ability to represent one's own mental states (an aspect of metacognition) relies on the same mechanism as the ability to represent others' mental states ("mindreading"). Given numerous studies have shown mindreading is impaired in ASD, there is good reason to predict concurrent impairments in metacognition. Metacognition is most commonly explored in the context of memory, often by assessing people's ability to monitor their memory processes. The current study addressed the question of whether people with ASD have difficulty monitoring the contents of their memory (alongside impaired mindreading). Eighteen intellectually high-functioning adults with ASD and 18 IQ-and age-matched neurotypical adults participated. Metamemory monitoring ability and mindreading ability were assessed by using a feeling-of-knowing task and the "animations" task, respectively. Participants also completed a self-report measure of metacognitive ability. In addition to showing impaired mindreading, participants with ASD made significantly less accurate feeling-of-knowing judgments than neurotypical adults, suggesting that metamemory monitoring (an aspect of metacognition) was impaired. Conversely, participants with ASD self-reported superior metacognitive abilities compared with those reported by neurotypical participants. This study provides evidence that individuals with ASD have metamemory monitoring impairments. The theoretical and practical implications of these findings for our current understanding of metacognition in ASD and typical development are discussed.
C1 [Grainger, Catherine; Williams, David M.] Univ Kent, Sch Psychol, Keynes Coll, Canterbury CT2 7NP, Kent, England.
[Lind, Sophie E.] City Univ London, Autism Res Grp, Dept Psychol, London, England.
RP Grainger, C (reprint author), Univ Kent, Sch Psychol, Keynes Coll, Canterbury CT2 7NP, Kent, England.
EM cg341@kent.ac.uk
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NR 59
TC 1
Z9 1
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0021-843X
EI 1939-1846
J9 J ABNORM PSYCHOL
JI J. Abnorm. Psychol.
PD AUG
PY 2014
VL 123
IS 3
BP 650
EP 659
DI 10.1037/a0036531
PG 10
WC Psychology, Clinical; Psychology, Multidisciplinary
SC Psychology
GA AS1AH
UT WOS:000344008000016
PM 24955572
ER
PT J
AU Meaux, E
Roux, S
Batty, M
AF Meaux, Emilie
Roux, Sylvie
Batty, Magali
TI Early visual ERPs are influenced by individual emotional skills
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE facial expression of emotion; visual ERPs; emotional skills; healthy
adults
ID EVENT-RELATED POTENTIALS; AUTISM SPECTRUM DISORDER; FACIAL EXPRESSIONS;
BIPOLAR DISORDER; SEX-DIFFERENCES; FEARFUL FACES; CATEGORICAL
PERCEPTION; BRAIN POTENTIALS; TIME-COURSE; SOCIAL-INTERACTION
AB Processing information from faces is crucial to understanding others and to adapting to social life. Many studies have investigated responses to facial emotions to provide a better understanding of the processes and the neural networks involved. Moreover, several studies have revealed abnormalities of emotional face processing and their neural correlates in affective disorders. The aim of this study was to investigate whether early visual event-related potentials (ERPs) are affected by the emotional skills of healthy adults. Unfamiliar faces expressing the six basic emotions were presented to 28 young adults while recording visual ERPs. No specific task was required during the recording. Participants also completed the Social Skills Inventory (SSI) which measures social and emotional skills. The results confirmed that early visual ERPs (P1, N170) are affected by the emotions expressed by a face and also demonstrated that N170 and P2 are correlated to the emotional skills of healthy subjects. While N170 is sensitive to the subject's emotional sensitivity and expressivity, P2 is modulated by the ability of the subjects to control their emotions. We therefore suggest that N170 and P2 could be used as individual markers to assess strengths and weaknesses in emotional areas and could provide information for further investigations of affective disorders.
C1 [Meaux, Emilie; Roux, Sylvie; Batty, Magali] Univ Tours, CHRU Tours, Ctr Univ Pedopsychiat, UMR Inserm U930, F-37044 Tours 9, France.
RP Meaux, E (reprint author), Univ Med Ctr, Lab Behav Neurol & Imaging Cognit LabNIC, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland.
EM Emilie.Meaux@unige.ch
FU Foundation ORANGE
FX The authors thank all the subjects for their time and effort spent
participating in this study. Special thanks are due to Sylvie Roux for
her valuable help with the experimental design and analyses. This work
was supported by grants from Foundation ORANGE.
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NR 126
TC 2
Z9 3
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1749-5016
EI 1749-5024
J9 SOC COGN AFFECT NEUR
JI Soc. Cogn. Affect. Neurosci.
PD AUG
PY 2014
VL 9
IS 8
BP 1089
EP 1098
DI 10.1093/scan/nst084
PG 10
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IA
UT WOS:000342984900007
PM 23720573
ER
PT J
AU Schulte-Ruther, M
Greimel, E
Piefke, M
Kamp-Becker, I
Remschmidt, H
Fink, GR
Herpertz-Dahlmann, B
Konrad, K
AF Schulte-Ruether, Martin
Greimel, Ellen
Piefke, Martina
Kamp-Becker, Inge
Remschmidt, Helmut
Fink, Gereon R.
Herpertz-Dahlmann, Beate
Konrad, Kerstin
TI Age-dependent changes in the neural substrates of empathy in autism
spectrum disorder
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE social cognition; theory of mind; medial prefrontal cortex; facial
emotion; developmental trajectories
ID NETWORKS SUPPORTING EMPATHY; HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME;
RESPONSE-INHIBITION; COGNITIVE CONTROL; MIRROR NEURON; MIND; BRAIN;
CHILDREN; SELF
AB In typical development, empathic abilities continue to refine during adolescence and early adulthood. Children and adolescents with autism spectrum disorders (ASD) show deficits in empathy, whereas adults with ASD may have developed compensatory strategies. We aimed at comparing developmental trajectories in the neural mechanisms underlying empathy in individuals with ASD and typically developing control (TDC) subjects. Using an explicit empathizing paradigm and functional magnetic resonance imaging, 27 participants with ASD and 27 TDC aged 12-31 years were investigated. Participants were asked to empathize with emotional faces and to either infer the face's emotional state (other-task) or to judge their own emotional response (self-task). Differential age-dependent changes were evident during the self-task in the right dorsolateral prefrontal cortex, right medial prefrontal cortex, right inferior parietal cortex, right anterior insula and occipital cortex. Age-dependent decreases in neural activation in TDC were paralleled by either increasing or unchanged age-dependent activation in ASD. These data suggest ASD-associated deviations in the developmental trajectories of self-related processing during empathizing. In TDC, age-dependent modulations of brain areas may reflect the 'fine-tuning' of cortical networks by reduction of task-unspecific brain activity. Increased age-related activation in individuals with ASD may indicate the development of compensatory mechanisms.
C1 [Schulte-Ruether, Martin; Greimel, Ellen; Konrad, Kerstin] Univ Hosp RWTH Aachen, Dept Child & Adolescent Psychiat Psychosomat & Ps, Child Neuropsychol Sect, D-52074 Aachen, Germany.
[Schulte-Ruether, Martin; Greimel, Ellen; Piefke, Martina; Fink, Gereon R.; Konrad, Kerstin] Forschungszentrum Julich, Inst Neurosci & Med INM 3, D-52425 Julich, Germany.
[Schulte-Ruether, Martin; Herpertz-Dahlmann, Beate; Konrad, Kerstin] Univ Hosp Munich, JARA Translat Brain Med, Munich, Germany.
[Greimel, Ellen] Univ Hosp Munich, Dept Child & Adolescent Psychiat Psychosomat & Ps, Munich, Germany.
[Piefke, Martina] Univ Witten Herdecke, Dept Psychol & Psychotherapy, Witten, Germany.
[Kamp-Becker, Inge; Remschmidt, Helmut] Univ Marburg, Dept Child & Adolescent Psychiat Psychosomat & Ps, Marburg, Germany.
[Fink, Gereon R.] Univ Hosp Cologne, Dept Neurol, Cologne, Germany.
[Herpertz-Dahlmann, Beate] Univ Hosp RWTH Aachen, Dept Child & Adolescent Psychiat Psychosomat & Ps, Aachen, Germany.
RP Schulte-Ruther, M (reprint author), Univ Hosp RWTH Aachen, Dept Child & Adolescent Psychiat, Child Neuropsychol Sect, Neuenhofer Weg 21, D-52074 Aachen, Germany.
EM mschulte@ukaachen.de
RI Konrad, Kerstin/H-7747-2013; Fink, Gereon/E-1616-2012
OI Konrad, Kerstin/0000-0001-9039-2615; Fink, Gereon/0000-0002-8230-1856
FU Bundeministerium fur Bildung und Forschung [01GW0751];
Hans-Lungwitz-Foundation
FX The authors are grateful to all volunteers who took part in this study.
They thank their colleagues in the Brain Imaging Physics (INM-4) and
Cognitive Neuroscience groups (INM-3) at the Research Center Julich
(Institute of Neuroscience and Medicine) and the Child Neuropsychology
section at the University Hospital RWTH Aachen for their support and
helpful advice. K.K. and B.H.-D. were supported by the Bundeministerium
fur Bildung und Forschung grant 01GW0751. M. P. was supported by a grant
from the Hans-Lungwitz-Foundation.
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NR 77
TC 2
Z9 2
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1749-5016
EI 1749-5024
J9 SOC COGN AFFECT NEUR
JI Soc. Cogn. Affect. Neurosci.
PD AUG
PY 2014
VL 9
IS 8
BP 1118
EP 1126
DI 10.1093/scan/nst088
PG 9
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IA
UT WOS:000342984900010
PM 23784073
ER
PT J
AU Fan, YT
Chen, CY
Chen, SC
Decety, J
Cheng, YW
AF Fan, Yang-Teng
Chen, Chenyi
Chen, Shih-Chuan
Decety, Jean
Cheng, Yawei
TI Empathic arousal and social understanding in individuals with autism:
evidence from fMRI and ERP measurements
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE autism spectrum disorder (ASD); empathy; pressure pain thresholds (PPT);
functional MRI (fMRI); electroencephalography/event-related potentials
(EEG/ERP)
ID EVENT-RELATED POTENTIALS; MIRROR NEURON SYSTEM; SPECTRUM DISORDERS;
ASPERGER-SYNDROME; FUNCTIONING AUTISM; EMOTIONAL EMPATHY; CINGULATE
CORTEX; INSULAR CORTEX; PAIN; BRAIN
AB Lack of empathy is a hallmark of social impairments in individuals with autism spectrum disorder (ASD). However, the concept empathy encompasses several socio-emotional and behavioral components underpinned by interacting brain circuits. This study examined empathic arousal and social understanding in individuals with ASD and matched controls by combining pressure pain thresholds (PPT) with functional magnetic resonance imaging (study 1) and electroencephalography/event-related potentials and eye-tracking responses (study 2) to empathy-eliciting stimuli depicting physical bodily injuries. Results indicate that participants with ASD had lower PPT than controls. When viewing body parts being accidentally injured, increased hemodynamic responses in the somatosensory cortex (SI/SII) but decreased responses in the anterior mid-cingulate and anterior insula as well as heightened N2 but preserved late-positive potentials (LPP) were detected in ASD participants. When viewing a person intentionally hurting another, decreased hemodynamic responses in the medial prefrontal cortex and reduced LPP were observed in the ASD group. PPT was a mediator for the SI/SII response in predicting subjective unpleasantness ratings to others' pain. Both ASD and control groups had comparable mu suppression, indicative of typical sensorimotor resonance. The findings demonstrate that, in addition to reduced pain thresholds, individuals with ASD exhibit heightened empathic arousal but impaired social understanding when perceiving others' distress.
C1 [Fan, Yang-Teng; Chen, Chenyi; Chen, Shih-Chuan; Cheng, Yawei] Natl Yang Ming Univ, Inst Neurosci, Taipei 112, Taiwan.
[Fan, Yang-Teng; Chen, Chenyi; Chen, Shih-Chuan; Cheng, Yawei] Natl Yang Ming Univ, Brain Res Ctr, Taipei 112, Taiwan.
[Decety, Jean] Univ Chicago, Dept Psychol, Chicago, IL 60637 USA.
[Decety, Jean] Univ Chicago, Dept Psychiat & Behav Neurosci, Chicago, IL 60637 USA.
[Cheng, Yawei] Natl Yang Ming Univ Hosp, Dept Rehabil, Yilan, Taiwan.
RP Cheng, YW (reprint author), Natl Yang Ming Univ, Inst Neurosci, 155,Sec 2,St Linong, Taipei 112, Taiwan.
EM ywcheng2@ym.edu.tw
FU National Science Council [NSC 99-2314-B-010-037-MY3, NSC
100-2628-H-010-001-MY3]; National Yang-Ming University Hospital [RD
2011-005]; Health Department of Taipei City Government [10201-62-064];
Ministry of Education (Aim for the Top University Plan); NSF
[BCS-0718480]
FX The authors thank Dr. Yu-Yu Wu for helpful support on clinical
assessments. The study was funded by National Science Council (NSC
99-2314-B-010-037-MY3; NSC 100-2628-H-010-001-MY3), National Yang-Ming
University Hospital (RD 2011-005), the Health Department of Taipei City
Government (10201-62-064) and a grant from the Ministry of Education
(Aim for the Top University Plan). Dr. Jean Decety was supported by an
NSF grant (BCS-0718480).
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NR 84
TC 5
Z9 5
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1749-5016
EI 1749-5024
J9 SOC COGN AFFECT NEUR
JI Soc. Cogn. Affect. Neurosci.
PD AUG
PY 2014
VL 9
IS 8
BP 1203
EP 1213
DI 10.1093/scan/nst101
PG 11
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IA
UT WOS:000342984900020
PM 23929944
ER
PT J
AU Kroger, A
Bletsch, A
Krick, C
Siniatchkin, M
Jarczok, TA
Freitag, CM
Bender, S
AF Kroeger, Anne
Bletsch, Anke
Krick, Christoph
Siniatchkin, Michael
Jarczok, Tomasz A.
Freitag, Christine M.
Bender, Stephan
TI Visual event-related potentials to biological motion stimuli in autism
spectrum disorders
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE event-related-potentials; motion perception; P100; N200;
hemisphere-asymmetry
ID SUPERIOR TEMPORAL SULCUS; EVOKED-POTENTIALS; DEVELOPMENTAL-CHANGES;
COHERENT MOTION; YOUNG-CHILDREN; ATYPICAL FACE; ERP EVIDENCE;
TIME-COURSE; PERCEPTION; LANGUAGE
AB Atypical visual processing of biological motion contributes to social impairments in autism spectrum disorders (ASD). However, the exact temporal sequence of deficits of cortical biological motion processing in ASD has not been studied to date. We used 64-channel electroencephalography to study event-related potentials associated with human motion perception in 17 children and adolescents with ASD and 21 typical controls. A spatio-temporal source analysis was performed to assess the brain structures involved in these processes. We expected altered activity already during early stimulus processing and reduced activity during subsequent biological motion specific processes in ASD. In response to both, random and biological motion, the P100 amplitude was decreased suggesting unspecific deficits in visual processing, and the occipito-temporal N200 showed atypical lateralization in ASD suggesting altered hemispheric specialization. A slow positive deflection after 400 ms, reflecting top-down processes, and human motion-specific dipole activation differed slightly between groups, with reduced and more diffuse activation in the ASD-group. The latter could be an indicator of a disrupted neuronal network for biological motion processing in ADS. Furthermore, early visual processing (P100) seems to be correlated to biological motion-specific activation. This emphasizes the relevance of early sensory processing for higher order processing deficits in ASD.
C1 [Kroeger, Anne; Bletsch, Anke; Siniatchkin, Michael; Jarczok, Tomasz A.; Freitag, Christine M.; Bender, Stephan] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60528 Frankfurt, Germany.
[Krick, Christoph] Saarland Univ Hosp, Dept Neuroradiol, D-66424 Homburg, Germany.
[Bender, Stephan] Tech Univ Dresden, Dept Child & Adolescent Psychiat & Psychotherapy, D-01307 Dresden, Germany.
RP Kroger, A (reprint author), Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, Deutschordenstr 50, D-60528 Frankfurt, Germany.
EM Anne.Kroeger@kgu.de
FU foundation of Marie Christine Held and Erika Hecker; German Research
foundation 'Deutsche Forschungsgemeinschaft' [FR2069/2-1]; LOEWE-Program
'Neuronal Coordination Research Focus Frankfurt' (NeFF)
FX First, we thank all families, who supported our work by participating in
our study. We also thank Jennifer Bohm and Katharina Hof for assistance
with the data collection, Benjamin Teufert for data calculations and our
clinical colleagues for helping us with recruiting participants. This
work was supported by the foundation of Marie Christine Held and Erika
Hecker to A.K., the German Research foundation 'Deutsche
Forschungsgemeinschaft' to C.M.F. (FR2069/2-1), and by the LOEWE-Program
'Neuronal Coordination Research Focus Frankfurt' (NeFF) to C.M.F. and
S.B.
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Wandell BA, 2007, NEURON, V56, P366, DOI 10.1016/j.neuron.2007.10.012
Webb SJ, 2006, J AUTISM DEV DISORD, V36, P881, DOI 10.1007/s10803-006-0126-x
Williams JHG, 2004, J AUTISM DEV DISORD, V34, P285, DOI 10.1023/B:JADD.0000029551.56735.3a
World Health Organisation, 1992, ICD 10 CLASS MENT BE
NR 79
TC 3
Z9 3
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1749-5016
EI 1749-5024
J9 SOC COGN AFFECT NEUR
JI Soc. Cogn. Affect. Neurosci.
PD AUG
PY 2014
VL 9
IS 8
BP 1214
EP 1222
DI 10.1093/scan/nst103
PG 9
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IA
UT WOS:000342984900021
PM 23887808
ER
PT J
AU Hebron, J
Humphrey, N
AF Hebron, Judith
Humphrey, Neil
TI Exposure to bullying among students with autism spectrum conditions: A
multi-informant analysis of risk and protective factors
SO AUTISM
LA English
DT Article
DE bullying; protection; risk; school; victimisation
ID HIGH-FUNCTIONING AUTISM; SCHOOL-AGED CHILDREN; PARENTAL INVOLVEMENT;
ACADEMIC-ACHIEVEMENT; PEER RELATIONSHIPS; ASPERGER-SYNDROME; ADOLESCENT
BOYS; VICTIMIZATION; DISORDERS; PREVALENCE
AB Research has consistently shown that children and young people with autism spectrum conditions are more likely to be bullied than those with other or no special educational needs. The aim of this study was to examine risk and protective factors that could help to explain variation in exposure to bullying within this group. A sample of 722 teachers and 119 parents reported on their child's experience of being bullied. This response variable was regressed onto a range of explanatory variables representing individual and contextual factors. The teacher-and parent-rated regression models were statistically significant, explaining large proportions of variance in exposure to bullying. Behaviour difficulties and increased age were associated with bullying in both models. Positive relationships and attending a special school were associated with a decrease in bullying in the teacher model, with use of public/school transport predicting an increase. In the parent model, special educational needs provision at School Action Plus (as opposed to having a Statement of Special Educational Needs) was a significant risk factor, and higher levels of parental engagement and confidence were associated with reductions in bullying. These findings are discussed in relation to the autism spectrum conditions literature, and opportunities for intervention are considered.
C1 [Hebron, Judith; Humphrey, Neil] Univ Manchester, Manchester M13 9PL, Lancs, England.
RP Hebron, J (reprint author), Univ Manchester, Sch Educ, Oxford Rd, Manchester M13 9PL, Lancs, England.
EM judith.hebron@manchester.ac.uk
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NR 87
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 618
EP 630
DI 10.1177/1362361313495965
PG 13
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900001
PM 23886576
ER
PT J
AU Schubart, JR
Camacho, F
Leslie, D
AF Schubart, Jane R.
Camacho, Fabian
Leslie, Douglas
TI Psychotropic medication trends among children and adolescents with
autism spectrum disorder in the Medicaid program
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; children and adolescents; Medicaid;
psychotropic medications
ID PREVALENCE; PATTERNS; MANAGEMENT; DRUGS
AB This study characterized psychotropic medication use among Medicaid-enrolled children and adolescents with autism spectrum disorders by examining trends over time, including length of treatment and polypharmacy using 4 years of administrative claims data from 41 state Medicaid programs (2000-2003). The data set included nearly 3 million children and adolescents who were 17 years or younger. Approximately, 65% of children with autism spectrum disorder received a psychotropic medication. The results indicate an increasing overall trend in the use of psychotropic drugs among children and adolescents with autism spectrum disorders. Among the different classes of psychotropic drugs, antipsychotics were the most common. Increasing trends in polypharmacy were observed both within and between medication classes.
C1 [Schubart, Jane R.; Camacho, Fabian; Leslie, Douglas] Penn State Univ, Hershey, PA 17033 USA.
RP Schubart, JR (reprint author), Penn State Univ, Coll Med, Dept Surg Med & Publ Hlth Sci, 500 Univ Dr, Hershey, PA 17033 USA.
EM jschubart@hmc.psu.edu
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NR 22
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 631
EP 637
DI 10.1177/1362361313497537
PG 7
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900002
PM 24165274
ER
PT J
AU Panerai, S
Tasca, D
Lanuzza, B
Trubia, G
Ferri, R
Musso, S
Alagona, G
Di Guardo, G
Barone, C
Gaglione, MP
Elia, M
AF Panerai, Simonetta
Tasca, Domenica
Lanuzza, Bartolo
Trubia, Grazia
Ferri, Raffaele
Musso, Sabrina
Alagona, Giovanna
Di Guardo, Giuseppe
Barone, Concetta
Gaglione, Maria P.
Elia, Maurizio
TI Effects of repetitive transcranial magnetic stimulation in performing
eye-hand integration tasks: Four preliminary studies with children
showing low-functioning autism
SO AUTISM
LA English
DT Article
DE autism spectrum disorders; premotor cortex; rehabilitation; transcranial
magnetic stimulation
ID SPECTRUM DISORDERS; TOOL USE; MOTOR; ATTENTION; CORTEX; BRAIN;
INTERFERENCE; PREVALENCE; DEFICITS
AB This report, based on four studies with children with low-functioning autism, aimed at evaluating the effects of repetitive transcranial magnetic stimulation delivered on the left and right premotor cortices on eye-hand integration tasks; defining the long-lasting effects of high-frequency repetitive transcranial magnetic stimulation; and investigating the real efficacy of high-frequency repetitive transcranial magnetic stimulation by comparing three kinds of treatments (high-frequency repetitive transcranial magnetic stimulation, a traditional eye-hand integration training, and both treatments combined). Results showed a significant increase in eye-hand performances only when high-frequency repetitive transcranial magnetic stimulation was delivered on the left premotor cortex; a persistent improvement up to 1 h after the end of the stimulation; better outcomes in the treatment combining high-frequency repetitive transcranial magnetic stimulation and eye-hand integration training. Based on these preliminary findings, further evaluations on the usefulness of high-frequency repetitive transcranial magnetic stimulation in rehabilitation of children with autism are strongly recommended.
C1 [Panerai, Simonetta; Tasca, Domenica; Lanuzza, Bartolo; Trubia, Grazia; Ferri, Raffaele; Musso, Sabrina; Di Guardo, Giuseppe; Barone, Concetta; Gaglione, Maria P.; Elia, Maurizio] IRCCS Assoc Oasi Maria SS, Troina, EN, Italy.
[Alagona, Giovanna] Azienda Osped Emergenza Cannizzaro, Catania, Italy.
RP Panerai, S (reprint author), Oasi Inst Res Mental Retardat & Brain Aging, Via Conte Ruggero 73, I-94018 Troina, EN, Italy.
EM spanerai@oasi.en.it
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NR 37
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 638
EP 650
DI 10.1177/1362361313495717
PG 13
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900003
PM 24113340
ER
PT J
AU Cutress, AL
Muncer, SJ
AF Cutress, Anna L.
Muncer, Steven J.
TI Parents' views of the National Autistic Society's EarlyBird Plus
Programme
SO AUTISM
LA English
DT Article
DE autism; EarlyBird Plus; parent training programme; post-diagnostic
support; psychoeducation
ID PRESCHOOL-CHILDREN; SPECTRUM DISORDER; DOWN-SYNDROME; INTERVENTION;
DIAGNOSIS; MOTHERS
AB Parent training interventions are recommended for parents soon after their child's autism spectrum condition diagnosis with the aim of improving parents' psychological well-being and coping, as well as the child's behaviour. This report explores parents' views of the EarlyBird Plus Programme through data collected routinely in the post-programme questionnaire. Participants' reported increased understanding of autism and improvements in their communication with their child and their ability to manage their child's behaviour. Parents appeared to value the opportunity to meet with other parents, and the programme seemed acceptable to the majority of parents who attended.
C1 [Cutress, Anna L.; Muncer, Steven J.] Univ Teesside, Middlesbrough TS1 3BA, Cleveland, England.
RP Cutress, AL (reprint author), Univ Teesside, Sch Hlth & Social Care, Clin Psychol Programme, Middlesbrough TS1 3BA, Cleveland, England.
EM k0106145@tees.ac.uk
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NR 24
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 651
EP 657
DI 10.1177/1362361313495718
PG 7
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900004
PM 24104516
ER
PT J
AU Warreyn, P
Roeyers, H
AF Warreyn, Petra
Roeyers, Herbert
TI See what I see, do as I do: Promoting joint attention and imitation in
preschoolers with autism spectrum disorder
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; imitation; intervention; joint attention;
preschoolers; rehabilitation
ID OF-THE-LITERATURE; YOUNG-CHILDREN; PRETEND PLAY;
NONVERBAL-COMMUNICATION; RECIPROCAL IMITATION; EARLY INTERVENTION;
SOCIAL COMPETENCE; VISUAL-ATTENTION; DOWN-SYNDROME; HUMAN INFANTS
AB Since imitation and joint attention are both important abilities for young children and since children with autism spectrum disorder show a range of problems in these domains, imitation and joint attention are important targets for intervention. In this study, we examined the possibility of promoting imitation and joint attention by means of a training programme specifically designed for low-intensity, non-residential treatment. Two matched groups of 18 children each participated in the study. The experimental group, receiving the training programme, improved significantly more on joint attention than the group receiving only treatment as usual. Only the experimental group obtained a significantly higher imitation score during the post-test compared to the pre-test. This study shows that it is possible to promote joint attention with a low-intensity treatment programme. The results concerning imitation are more modest. Future replications should involve measures of stability and generalization.
C1 [Warreyn, Petra; Roeyers, Herbert] Univ Ghent, B-9000 Ghent, Belgium.
RP Warreyn, P (reprint author), Univ Ghent, Dept Expt Clin & Hlth Psychol, Res Grp Dev Disorders, Henri Dunantlaan 2, B-9000 Ghent, Belgium.
EM petra.warreyn@ugent.be
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NR 90
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 658
EP 671
DI 10.1177/1362361313493834
PG 14
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900005
PM 24104513
ER
PT J
AU Hesselmark, E
Plenty, S
Bejerot, S
AF Hesselmark, Eva
Plenty, Stephanie
Bejerot, Susanne
TI Group cognitive behavioural therapy and group recreational activity for
adults with autism spectrum disorders: A preliminary randomized
controlled trial
SO AUTISM
LA English
DT Article
DE adult; Asperger disorder; autism; cognitive behaviour therapy; group;
randomized controlled trial
ID QUALITY-OF-LIFE; FUNCTIONING AUTISM; ASPERGER-SYNDROME; YOUNG-ADULTS;
DROP-OUT; CHILDREN; ANXIETY; ADOLESCENTS; POPULATION; VALIDATION
AB Although adults with autism spectrum disorder are an increasingly identified patient population, few treatment options are available. This preliminary randomized controlled open trial with a parallel design developed two group interventions for adults with autism spectrum disorders and intelligence within the normal range: cognitive behavioural therapy and recreational activity. Both interventions comprised 36 weekly 3-h sessions led by two therapists in groups of 6-8 patients. A total of 68 psychiatric patients with autism spectrum disorders participated in the study. Outcome measures were Quality of Life Inventory, Sense of Coherence Scale, Rosenberg Self-Esteem Scale and an exploratory analysis on measures of psychiatric health. Participants in both treatment conditions reported an increased quality of life at post-treatment (d = 0.39, p < 0.001), with no difference between interventions. No amelioration of psychiatric symptoms was observed. The dropout rate was lower with cognitive behavioural therapy than with recreational activity, and participants in cognitive behavioural therapy rated themselves as more generally improved, as well as more improved regarding expression of needs and understanding of difficulties. Both interventions appear to be promising treatment options for adults with autism spectrum disorder. The interventions' similar efficacy may be due to the common elements, structure and group setting. Cognitive behavioural therapy may be additionally beneficial in terms of increasing specific skills and minimizing dropout.
C1 [Hesselmark, Eva; Plenty, Stephanie; Bejerot, Susanne] Karolinska Inst, Dept Clin Neurosci, Stockholm, Sweden.
[Bejerot, Susanne] St Goran Hosp, VUB KOGNUS, Northern Stockholm Psychiat, SE-11281 Stockholm, Sweden.
RP Hesselmark, E (reprint author), St Goran Hosp, VUB KOGNUS, Northern Stockholm Psychiat, SE-11281 Stockholm, Sweden.
EM ehesselmark@gmail.com
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NR 48
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 672
EP 683
DI 10.1177/1362361313493681
PG 12
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900006
PM 24089423
ER
PT J
AU Callenmark, B
Kjellin, L
Ronnqvist, L
Bolte, S
AF Callenmark, Bjorn
Kjellin, Lars
Ronnqvist, Louise
Bolte, Sven
TI Explicit versus implicit social cognition testing in autism spectrum
disorder
SO AUTISM
LA English
DT Article
DE Asperger's syndrome; assessment; mentalizing; neurodevelopmental
disorders; psychometrics; theory of mind
ID ASPERGER-SYNDROME; EYES TEST; MIND; ADULTS; DEFICITS; CHILDREN; SYSTEMS
AB Although autism spectrum disorder is defined by reciprocal social-communication impairments, several studies have found no evidence for altered social cognition test performance. This study examined explicit (i.e. prompted) and implicit (i.e. spontaneous) variants of social cognition testing in autism spectrum disorder. A sample of 19 adolescents with autism spectrum disorder and 19 carefully matched typically developing controls completed the Dewey Story Test. 'Explicit' (multiple-choice answering format) and 'implicit' (free interview) measures of social cognition were obtained. Autism spectrum disorder participants did not differ from controls regarding explicit social cognition performance. However, the autism spectrum disorder group performed more poorly than controls on implicit social cognition performance in terms of spontaneous perspective taking and social awareness. Findings suggest that social cognition alterations in autism spectrum disorder are primarily implicit in nature and that an apparent absence of social cognition difficulties on certain tests using rather explicit testing formats does not necessarily mean social cognition typicality in autism spectrum disorder.
C1 [Callenmark, Bjorn] Stockholm Cty Council, Stockholm, Sweden.
[Callenmark, Bjorn; Kjellin, Lars] Orebro Cty Council, Orebro, Sweden.
[Kjellin, Lars] Univ Orebro, Orebro, Sweden.
[Ronnqvist, Louise] Umea Univ, S-90187 Umea, Sweden.
[Bolte, Sven] Karolinska Inst, S-10401 Stockholm, Sweden.
RP Bolte, S (reprint author), Karolinska Inst KIND, CAP Res Ctr, Ctr Neurodev Disorders, Dept Womens & Childrens Hlth, Gavlegatan 22 B, S-11330 Stockholm, Sweden.
EM sven.bolte@ki.se
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Wechsler D., 1999, WECHSLER INTELLIGENC
NR 37
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 684
EP 693
DI 10.1177/1362361313492393
PG 10
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900007
PM 24104519
ER
PT J
AU Leezenbaum, NB
Campbell, SB
Butler, D
Iverson, JM
AF Leezenbaum, Nina B.
Campbell, Susan B.
Butler, Derrecka
Iverson, Jana M.
TI Maternal verbal responses to communication of infants at low and
heightened risk of autism
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; communication development; gesture; parent
verbal responsiveness
ID YOUNG-CHILDREN; SIBLINGS; LANGUAGE; MOTHERS; SPECTRUM; GESTURES
AB This study investigates mothers' responses to infant communication among infants at heightened genetic risk (high risk) of autism spectrum disorder compared to infants with no such risk (low risk). A total of 26 infants, 12 of whom had an older sibling with autism spectrum disorder, were observed during naturalistic in-home interaction and semistructured play with their mothers at 13 and 18 months of age. Results indicate that overall, mothers of low-risk and high-risk infants were highly and similarly responsive to their infants' communicative behaviors. However, examination of infant vocal and gestural communication development together with maternal verbal responses and translations (i.e. verbally labeling a gesture referent) suggests that delays in early communication development observed among high-risk infants may alter the input that these infants receive; this in turn may have cascading effects on the subsequent development of communication and language.
C1 [Leezenbaum, Nina B.; Campbell, Susan B.; Iverson, Jana M.] Univ Pittsburgh, Pittsburgh, PA 15260 USA.
[Butler, Derrecka] No Illinois Univ, De Kalb, IL 60115 USA.
RP Leezenbaum, NB (reprint author), Univ Pittsburgh, Dept Psychol, 3309 Sennott Sq,210 S Bouquet St, Pittsburgh, PA 15260 USA.
EM nbl3@pitt.edu
CR (APA) APA, 2000, DIAGN STAT MAN MENT
BATES E., 1976, LANGUAGE CONTEXT
Bates E., 1979, EMERGENCE SYMBOLS CO
Bloom L., 1993, TRANSITION INFANCY L
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NR 29
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 694
EP 703
DI 10.1177/1362361313491327
PG 10
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900008
PM 24113343
ER
PT J
AU Stagg, SD
Slavny, R
Hand, C
Cardoso, A
Smith, P
AF Stagg, Steven D.
Slavny, Rachel
Hand, Charlotte
Cardoso, Alice
Smith, Pamela
TI Does facial expressivity count? How typically developing children
respond initially to children with autism
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; facial expressivity; first impressions;
friendship formation
ID PHYSICAL ATTRACTIVENESS; IMPRESSION-FORMATION; ASPERGERS-SYNDROME; 1ST
IMPRESSIONS; EMOTION; INTERVENTION; CONSEQUENCES; PERCEPTIONS;
ADOLESCENTS; LONELINESS
AB Research investigating expressivity in children with autism spectrum disorder has reported flat affect or bizarre facial expressivity within this population; however, the impact expressivity may have on first impression formation has received little research input. We examined how videos of children with autism spectrum disorder were rated for expressivity by adults blind to the condition. We further investigated the friendship ratings given by 44 typically developing children to the same videos. These ratings were compared to friendship ratings given to video clips of typically developing children. Results demonstrated that adult raters, blind to the diagnosis of the children in the videos, rated children with autism spectrum disorder as being less expressive than typically developing children. These autism spectrum disorder children were also rated lower than typically developing children on all aspects of our friendship measures by the 44 child raters. Results suggest that impression formation is less positive towards children with autism spectrum disorder than towards typically developing children even when exposure time is brief.
C1 [Stagg, Steven D.] Anglia Ruskin Univ, Cambridge CB1 1PT, England.
[Slavny, Rachel; Hand, Charlotte; Cardoso, Alice; Smith, Pamela] Univ London, London WC1E 7HU, England.
RP Stagg, SD (reprint author), Anglia Ruskin Univ, East Rd, Cambridge CB1 1PT, England.
EM steven.stagg@anglia.ac.uk
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NR 48
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 704
EP 711
DI 10.1177/1362361313492392
PG 8
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900009
PM 24121180
ER
PT J
AU Sharp, WG
Burrell, TL
Jaquess, DL
AF Sharp, William G.
Burrell, T. Lindsey
Jaquess, David L.
TI The Autism MEAL Plan: A parent-training curriculum to manage eating
aversions and low intake among children with autism
SO AUTISM
LA English
DT Article
DE autism; food selectivity; intervention; mealtime problems; parent
training; pediatric feeding disorders
ID SPECTRUM DISORDERS; FEEDING PROBLEMS; FOOD SELECTIVITY; DISRUPTIVE
BEHAVIOR; TREATMENT PROGRAM; YOUNG-CHILDREN; OUTCOMES; INTERVENTION;
FAMILIES; STRESS
AB Feeding problems represent a frequent concern reported by caregivers of children with autism spectrum disorders, and growing evidence suggests atypical patterns of intake may place this population at risk of nutritional and/or related medical issues, including chronic vitamin and mineral deficiencies, poor bone growth, and obesity. This combination of factors emphasizes a clear need to identify and disseminate evidence-based treatment of feeding problems associated with autism spectrum disorders. Behavioral intervention represents an effective treatment for chronic feeding concerns in this population; however, evidence has largely been established with trained therapists working in highly structured settings. This pilot study seeks to fill this gap in the literature by describing and evaluating the Autism MEAL Plan, a behaviorally based parent-training curriculum to address feeding problems associated with autism spectrum disorders. We assessed the feasibility of the intervention in terms of program content and study protocol (e. g. recruitment and retention of participants, assessment procedures), as well as efficacy in terms of changes in feeding behaviors. A total of 10 families participated in the treatment condition, and the program was evaluated using a waitlist control design (n = 9), representing the first randomized-control study of a feeding intervention in autism spectrum disorders. Results provide provisional support regarding the utility of the program, including high social validity, parent perception of effectiveness, and reduced levels of caregiver stress following intervention. Implications, limitations, and future directions for this line of research are discussed.
C1 [Sharp, William G.; Burrell, T. Lindsey; Jaquess, David L.] Marcus Autism Ctr, Atlanta, GA 30329 USA.
[Sharp, William G.; Jaquess, David L.] Emory Univ, Sch Med, Atlanta, GA 30322 USA.
[Burrell, T. Lindsey] Texas Tech Univ, Lubbock, TX 79409 USA.
RP Sharp, WG (reprint author), Marcus Autism Ctr, Pediat Psychol & Feeding Disorders Program, 1920 Briarcliff Rd, Atlanta, GA 30329 USA.
EM william.sharp@choa.org
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NR 43
TC 2
Z9 2
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 712
EP 722
DI 10.1177/1362361313489190
PG 11
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900010
PM 24101716
ER
PT J
AU McConachie, H
McLaughlin, E
Grahame, V
Taylor, H
Honey, E
Tavernor, L
Rodgers, J
Freeston, M
Hemm, C
Steen, N
Le Couteur, A
AF McConachie, Helen
McLaughlin, Eleanor
Grahame, Victoria
Taylor, Helen
Honey, Emma
Tavernor, Laura
Rodgers, Jacqui
Freeston, Mark
Hemm, Cahley
Steen, Nick
Le Couteur, Ann
TI Group therapy for anxiety in children with autism spectrum disorder
SO AUTISM
LA English
DT Article
DE anxiety; autism spectrum disorder; cognitive behaviour therapy; pilot
randomised trial
ID HIGH-FUNCTIONING AUTISM; COGNITIVE-BEHAVIORAL THERAPY; RANDOMIZED
CONTROLLED-TRIAL; PSYCHOMETRIC PROPERTIES; ASPERGER-SYNDROME; DSM-IV;
ADOLESCENTS; PREVALENCE; SAMPLE; SCALE
AB Aim: To investigate the acceptability and feasibility of adapted group therapy for anxiety in children with autism spectrum disorder in a pilot randomised controlled trial.
Method: A total of 32 children aged 9-13 years were randomised to immediate or delayed therapy using the 'Exploring Feelings' manual (Attwood, 2004). Child and parent groups were run in parallel, for seven weekly sessions, under the supervision of experienced psychologists. The primary blinded outcome measures addressed change in overall functioning and in severity of the primary anxiety diagnosis after 3 months.
Results: Children met diagnostic criteria for 1-6 anxiety disorders (median 3). At end point, both parents and children in the immediate therapy group were more likely to report a reduction in anxiety symptoms. Fidelity of delivery of the group therapy was high, and attendance was 91%.
Conclusions: This pilot trial established that children and families were willing to be recruited and randomised, the outcome measures were acceptable, the format and content of the groups were feasible within UK child and adolescent mental health services, the intervention was appreciated by families and attrition was very small.
C1 [McConachie, Helen; Rodgers, Jacqui; Freeston, Mark; Hemm, Cahley; Steen, Nick; Le Couteur, Ann] Newcastle Univ, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England.
[McLaughlin, Eleanor; Grahame, Victoria; Taylor, Helen; Honey, Emma; Tavernor, Laura] Northumberland Tyne & Wear NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England.
RP McConachie, H (reprint author), Newcastle Univ, Royal Victoria Infirm, Inst Hlth & Soc, Sir James Spence Inst, 3rd Floor, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England.
EM helen.mcconachie@ncl.ac.uk
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NR 63
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 723
EP 732
DI 10.1177/1362361313488839
PG 10
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900011
PM 24101715
ER
PT J
AU Oner, P
Oner, O
Munir, K
AF Oner, Pinar
Oner, Ozgur
Munir, Kerim
TI Three-item Direct Observation Screen (TIDOS) for autism spectrum
disorder
SO AUTISM
LA English
DT Article
DE autism; observation; screening; Social Communication Questionnaire
ID PERVASIVE DEVELOPMENTAL DISORDERS; SOCIAL COMMUNICATION QUESTIONNAIRE;
HIGHER FUNCTIONING INDIVIDUALS; ADAPTIVE-BEHAVIOR SCALES;
PRESCHOOL-CHILDREN; DIAGNOSTIC INTERVIEW; MODIFIED CHECKLIST; FOLLOW-UP;
HIGH-RISK; TODDLERS
AB We compared ratings on the Three-Item Direct Observation Screen test for autism spectrum disorders completed by pediatric residents with the Social Communication Questionnaire parent reports as an augmentative tool for improving autism spectrum disorder screening performance. We examined three groups of children (18-60 months) comparable in age (18-24 month, 24-36 month, 36-60 preschool subgroups) and gender distribution: n = 86 with Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.) autism spectrum disorders; n = 76 with developmental delay without autism spectrum disorders; and n = 97 with typical development. The Three-Item Direct Observation Screen test included the following (a) Joint Attention, (b) Eye Contact, and (c) Responsiveness to Name. The parent Social Communication Questionnaire ratings had a sensitivity of .73 and specificity of .70 for diagnosis of autism spectrum disorders. The Three-Item Direct Observation Screen test item Joint Attention had a sensitivity of .82 and specificity of .90, Eye Contact had a sensitivity of .89 and specificity of .91, and Responsiveness to Name had a sensitivity of .67 and specificity of .87. In the Three-Item Direct Observation Screen test, having at least one of the three items positive had a sensitivity of .95 and specificity of .85. Age, diagnosis of autism spectrum disorder, and developmental level were important factors affecting sensitivity and specificity. The results indicate that augmentation of autism spectrum disorder screening by observational items completed by trained pediatric-oriented professionals can be a highly effective tool in improving screening performance. If supported by future population studies, the results suggest that primary care practitioners will be able to be trained to use this direct procedure to augment screening for autism spectrum disorders in the community.
C1 [Oner, Pinar; Oner, Ozgur] Dr Sami Ulus Childrens Hosp, Child & Adolescent Psychiat Dept, Autism Ctr Excellence, TR-06100 Ankara, Turkey.
[Munir, Kerim] Childrens Hosp Boston, Boston, MA USA.
[Munir, Kerim] Harvard Univ, Sch Med, Cambridge, MA 02138 USA.
RP Oner, O (reprint author), Dr Sami Ulus Childrens Hosp, Dept Child & Adolescent Psychiat, TR-06100 Ankara, Turkey.
EM ozgur.oner@yahoo.com
RI Munir, Kerim/D-6910-2015
OI Munir, Kerim/0000-0002-2404-1806
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NR 39
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 733
EP 742
DI 10.1177/1362361313487028
PG 10
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900012
PM 24126869
ER
PT J
AU Sullivan, JC
Miller, LJ
Nielsen, DM
Schoen, SA
AF Sullivan, Jillian C.
Miller, Lucy J.
Nielsen, Darcy M.
Schoen, Sarah A.
TI The presence of migraines and its association with sensory
hyperreactivity and anxiety symptomatology in children with autism
spectrum disorder
SO AUTISM
LA English
DT Article
DE anxiety; autism; hyperreactivity; migraines; sensory processing
ID OVER-RESPONSIVITY; SYMPTOMS
AB Migraine headaches are associated with sensory hyperreactivity and anxiety in the general population, but it is unknown whether this is also the case in autism spectrum disorders. This pilot study asked parents of 81 children (aged 7-17 years) with autism spectrum disorders to report their child's migraine occurrence, sensory hyperreactivity (Sensory Over-Responsivity Inventory), and anxiety symptoms (Spence Child Anxiety Scale). Children with autism spectrum disorders who experienced migraine headaches showed greater sensory hyperreactivity and anxiety symptomatology (p < 0.01; medium effect size for both) than those without migraines. Sensory hyperreactivity and anxiety symptomatology were additionally correlated (rho = 0.31, p = 0.005). This study provides preliminary evidence for a link between migraine headaches, sensory hyperreactivity, and anxiety symptomatology in autism spectrum disorders, which may suggest strategies for subtyping and exploring a common pathogenesis.
C1 [Sullivan, Jillian C.; Miller, Lucy J.; Nielsen, Darcy M.; Schoen, Sarah A.] Sensory Proc Disorder Fdn, Greenwood Village, CO 80111 USA.
[Miller, Lucy J.; Schoen, Sarah A.] Rocky Mt Univ Hlth Profess, Provo, UT USA.
[Miller, Lucy J.] Univ Colorado Denver, Denver, CO USA.
RP Sullivan, JC (reprint author), Sensory Proc Disorder Fdn, 5420 S Quebec St,Suite 135, Greenwood Village, CO 80111 USA.
EM jillian.sullivan@cantab.net
CR Allison C, 2012, J AM ACAD CHILD PSY, V51, P202, DOI 10.1016/j.jaac.2011.11.003
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NR 16
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 743
EP 747
DI 10.1177/1362361313489377
PG 5
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900013
PM 24072661
ER
PT J
AU Cidav, Z
Marcus, SC
Mandell, DS
AF Cidav, Zuleyha
Marcus, Steven C.
Mandell, David S.
TI Home- and Community-Based Waivers for Children With Autism: Effects on
Service Use and Costs
SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism spectrum disorder; Medicaid; outpatient care; inpatient/long-term
care; home- and community-based waivers
ID HEALTH-CARE EXPENDITURES; LONG-TERM CARE; MEDICAID HOME; SPECTRUM
DISORDERS; PROGRAM; DIAGNOSIS; CLAIMS; STATES
AB We examined (a) the associations between Medicaid home and community-based waiver participation and service use and expenditures among children with ASD; and (b) how states' waiver spending moderates these effects. We used 2005 Medicaid claims to identify a sample of children with autism spectrum disorder (ASD). We selected two comparison groups who had no waiver participation: (a) children who were eligible for Medicaid through disability (disability group), and (b) children who had at least one inpatient/long-term care (IP/LT) episode (IP/LT group). Waiver participants were less likely to use IP/LT services and had lower associated expenditures than the disability group. As states' waiver spending increased, waiver participants became increasingly less likely to use IP/LT services. Waiver participants had more outpatient visits and associated expenditures; this difference increased as state waiver spending increased. Compared with the IP/LT group, waiver participants had lower IP/LT expenditures, more outpatient visits, and associated expenditures. Higher state waiver generosity increased this effect on outpatient visits and expenditures.
C1 [Cidav, Zuleyha; Marcus, Steven C.; Mandell, David S.] Univ Penn, Philadelphia, PA 19104 USA.
RP Cidav, Z (reprint author), Univ Penn, 3535 Market St, Philadelphia, PA 19104 USA.
EM zcidav@upenn.edu
RI Mandell, David/H-2730-2012
OI Mandell, David/0000-0001-8240-820X
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NR 38
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1934-9491
EI 1934-9556
J9 INTELLECT DEV DISAB
JI Intellect. Dev. Disabil.
PD AUG
PY 2014
VL 52
IS 4
BP 239
EP 248
DI 10.1352/1934-9556-52.4.239
PG 10
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AQ3VW
UT WOS:000342722600001
PM 25061768
ER
PT J
AU Mehling, MH
Tasse, MJ
AF Mehling, Margaret H.
Tasse, Marc J.
TI Empirically Derived Model of Social Outcomes and Predictors for Adults
With ASD
SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism Spectrum Disorder; social outcomes; community inclusion; social
relationships; friendships; choice; access to services; social
determination; National Core Indicators
ID RECEPTIVE LANGUAGE DISORDER; AUTISM SPECTRUM DISORDERS; QUALITY-OF-LIFE;
FOLLOW-UP; DISABILITIES; ADOLESCENCE; CHILDHOOD; CHILDREN
AB This study used data from the National Core Indicators (NCI) Survey to derive an empirically validated measurement model for social outcomes and associated constructs for both individuals with Autism Spectrum Disorder (ASD) and individuals with other disabilities. Items consistent with the survey structure of the NCI were selected as initial indicators of the latent constructs Social Relationships, Community Inclusion, and Opportunity for Choice in factor analyses. Results yielded a novel factor structure that is different from the original NCI survey structure. Three factors emerged as a result of these analyses: Personal Control, Social Determination, and Social Participation and Relationships. The factor structure of each of these constructs was consistent although not identical across individuals with ASD and individuals with developmental disabilities other than ASD.
C1 [Mehling, Margaret H.] Ohio State Univ, Dept Psychol, Columbus, OH 43210 USA.
[Tasse, Marc J.] Ohio State Univ, Nisonger Ctr, Columbus, OH 43210 USA.
RP Mehling, MH (reprint author), Ohio State Univ, Dept Psychol, Nisonger Ctr, McCampbell Hall,1581 Dodd Dr, Columbus, OH 43210 USA.
EM mehling.19@osu.edu
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NR 31
TC 1
Z9 1
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1934-9491
EI 1934-9556
J9 INTELLECT DEV DISAB
JI Intellect. Dev. Disabil.
PD AUG
PY 2014
VL 52
IS 4
BP 282
EP 295
DI 10.1352/1934-9556-52.4.282
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AQ3VW
UT WOS:000342722600005
PM 25061772
ER
PT J
AU Wehman, P
Chan, F
Ditchman, N
Kang, HJ
AF Wehman, Paul
Chan, Fong
Ditchman, Nicole
Kang, Hyun-Ju
TI Effect of Supported Employment on Vocational Rehabilitation Outcomes of
Transition-Age Youth With Intellectual and Developmental Disabilities: A
Case Control Study
SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE supported employment; intellectual disability; developmental disability;
vocational rehabilitation; propensity score matching
ID AUTISM SPECTRUM DISORDER; YOUNG-ADULTS; EXPERIENCES; SERVICES; SCHOOL;
WORK
AB The purpose of this study was to examine the effect of supported employment intervention on the employment outcomes of transition-age youth with intellectual and developmental disabilities served by the public vocational rehabilitation system using a case-control study design. Data for this study were extracted from the Rehabilitation Services Administration Case Service Report (RSA911) database for fiscal year 2009. The sample included 23,298 youth with intellectual and developmental disabilities aged between 16 and 25 years old at the time of application. The classification and regression tree (CART) method was used to estimate propensity scores and to adjust for selection bias on the basis of all prominent covariates relevant to the dependent variable (i.e., competitive employment). Results yielded six homogeneous subgroups, and receipt of supported employment was found to increase the employment rates across all of the groups. The effect of supported employment was especially strong for youth who were Social Security beneficiaries, special education students, and individuals with intellectual disabilities or autism who were high school graduates. These findings suggest that supported employment is an effective service for enhancing the vocational rehabilitation outcomes of young adults and provides valuable information for policy makers, health care providers, rehabilitation counselors, and educators.
C1 [Wehman, Paul] Virginia Commonwealth Univ, Dept Phys Med & Rehabil, Richmond, VA 23284 USA.
[Chan, Fong] Univ Wisconsin Madison, Rehabil Res & Training Ctr Evidence Based Vocat R, Madison, WI USA.
[Ditchman, Nicole] IIT, Dept Psychol, Chicago, IL 60616 USA.
[Kang, Hyun-Ju] Univ Wisconsin Madison, Dept Rehabil Psychol & Special Educ, Madison, WI USA.
RP Wehman, P (reprint author), Virginia Commonwealth Univ, Med Coll Virginia, 1314 W Main St, Richmond, VA 23284 USA.
EM pwehman@vcu.org
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NR 46
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1934-9491
EI 1934-9556
J9 INTELLECT DEV DISAB
JI Intellect. Dev. Disabil.
PD AUG
PY 2014
VL 52
IS 4
BP 296
EP 310
DI 10.1352/1934-9556-52.4.296
PG 15
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AQ3VW
UT WOS:000342722600006
PM 25061773
ER
PT J
AU Shaddel, F
Ghazirad, M
Bryant, M
AF Shaddel, Farshad
Ghazirad, Marjan
Bryant, Mark
TI What Is the Best Available Evidence for Using Homeopathy in Patients
with Intellectual Disabilities?
SO IRANIAN JOURNAL OF PEDIATRICS
LA English
DT Review
DE Homeopathy; Intellectual Disability; Mental Retardation; Learning
Disability; Systematic Review
ID RANDOMIZED CONTROLLED-TRIALS; DISORDER; CHILDREN
AB Objective: The debate about the effectiveness of homeopathy hits the headlines from time to time. Reported evidences for the role of homeopathy in psychiatric illness relevant to people with intellectual disabilities are patchy and inconsistent In this review we summarize the best available evidence for the use of homeopathy to treat the psychiatric disorders common in this population.
Methods: Systematic literature review was conducted through February 2012 to July 2012 in AMED, CINHAL, BNI, EMBASE, MEDLINE, PSYCHINFO and GOOGLE SCHOLAR In the next steps thirty eight homeopathic associations were contacted and a top-up literature search was done on Scopus and World of Science databases till March 2014. Twelve relevant clinical trials were identified and included in this study. The quality of each trial was assessed by the Oxford quality scoring system (Known as Jadad score) as well as subjective review by two reviewers independently (good versus poor).
Findings: The largest body of evidence pertained to the use of homeopathy in the treatment of attention deficit hyperactivity disorder (ADHD). There is heterogeneity in the quality of trials and also the outcome of studies but overall our findings suggest some potential for using homeopathy in ADHD. Current evidences do not support the use of homeopathy for treatment of speech and language difficulties. There was only one trial concerning the use of homeopathy in Autistic Spectrum Disorder. This was of a poor quality and unable to provide any recommendation.
Conclusion: Whilst acknowledging the risk of publication and language bias in our study, the currently available evidences are neither conclusive nor comprehensive enough to give us a clear picture for the use of homeopathy in patients with intellectual disabilities. There are large gaps in the body of evidence concerning the role of homeopathy in the treatment of common disorders in intellectual disability, such as autism, challenging behavior or developmental arrest in childhood.
C1 [Shaddel, Farshad; Ghazirad, Marjan] Univ Oxford, Oxford Learning Disabil, Oxford OX1 2JD, England.
Dermot Rowe Lib, Oxford Learning Disabil, Oxford, England.
RP Shaddel, F (reprint author), Univ Oxford, Royal Coll Psychiat Oxford Deanery, Oxford OX1 2JD, England.
EM f_shaddel@yahoo.com
RI ezeluomba, ndubuisi/O-2495-2014
OI ezeluomba, ndubuisi/0000-0002-6547-9011
CR Adler RH, EUR J PEDIAT
Aust N., 2013, FOCUS ALTERNATIVE CO, V18, P171
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NR 26
TC 0
Z9 0
PU IRANIAN SCIENTIFIC SOCIETY MEDICAL ENTOMOLOGY
PI TEHRAN
PA SCHOOL PUBLIC HEALTH & INST HEALTH RESEARCH, TEHRAN UNIV MEDICAL
SCIENCES, P O BOX 6446-14155, TEHRAN, 00000, IRAN
SN 2008-2142
EI 2008-2150
J9 IRAN J PEDIATR
JI Iran. J. Pediatr.
PD AUG
PY 2014
VL 24
IS 4
BP 339
EP 344
PG 6
WC Pediatrics
SC Pediatrics
GA AQ0YF
UT WOS:000342507900002
PM 25755852
ER
PT J
AU Seltzer, LE
Ma, MD
Ahmed, S
Bertrand, M
Dobyns, WB
Wheless, J
Paciorkowski, AR
AF Seltzer, Laurie E.
Ma, Mandy
Ahmed, Sohnee
Bertrand, Mary
Dobyns, William B.
Wheless, James
Paciorkowski, Alex R.
TI Epilepsy and outcome in FOXG1-related disorders
SO EPILEPSIA
LA English
DT Article
DE FOXG1; 14q12; Infantile spasms; Epilepsy; Developmental outcome
ID RETT-SYNDROME; INFANTILE SPASMS; MENTAL-RETARDATION; CONGENITAL VARIANT;
FOXG1; PHENOTYPE; ENCEPHALOPATHIES; GENOTYPE; 14Q12; TELENCEPHALON
AB Objective: FOXG1-related disorders are associated with severe intellectual disability, absent speech with autistic features, and epilepsy. Children with deletions or intragenic mutations of FOXG1 also have postnatal microcephaly, morphologic abnormalities of the corpus callosum, and choreiform movements. Duplications of 14q12 often present with infantile spasms, and have subsequent intellectual disability with autistic features. Long-term epilepsy outcome and response to treatment have not been studied systematically in a well-described cohort of subjects with FOXG1-related disorders. We report on the epilepsy features and developmental outcome of 23 new subjects with deletions or intragenic mutations of FOXG1, and 7 subjects with duplications.
Methods: Subjects had either chromosomal microarray or FOXG1 gene sequencing performed as part of routine clinical care. Development and epilepsy follow-up data were collected from medical records from treating neurologists and through telephone parental interviews using standardized questionnaires.
Results: Epilepsy was diagnosed in 87% of the subjects with FOXG1-related disorders. The mean age of epilepsy diagnosis in FOXG1 duplications was significantly younger than those with deletions/intragenic mutations (p = 0.0002). All of the duplication FOXG1 children with infantile spasms responded to hormonal therapy, and only one required long-term antiepileptic therapy. In contrast, more children with deletions/intragenic mutations required antiepileptic drugs on follow-up (p < 0.0005). All subjects with FOXG1-related disorders had neurodevelopmental disabilities after 3 years of age, regardless of the epilepsy type or intractability of seizures. All had impaired verbal language and social contact, and three duplication subjects were formally diagnosed with autism. Subjects with deletion/intragenic mutations, however, had significantly worse ambulation (p = 0.04) and functional hand use (p < 0.0005).
Significance: Epilepsy and developmental outcome characteristics allow clinicians to distinguish among the FOXG1-related disorders. Further genotype-phenotype studies of FOXG1 may help to elucidate why children develop different forms of developmental epilepsy.
C1 [Seltzer, Laurie E.; Ahmed, Sohnee; Paciorkowski, Alex R.] Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA.
[Ma, Mandy; Bertrand, Mary] Washington Univ, Pediat Epilepsy Ctr, Dept Neurol, St Louis, MO USA.
[Bertrand, Mary] Washington Univ, Dept Pediat, Pediat Epilepsy Ctr, St Louis, MO 63130 USA.
[Dobyns, William B.] Univ Washington, Ctr Integrat Brain Res, Seattle Res Inst, Dept Neurol, Seattle, WA 98195 USA.
[Dobyns, William B.] Univ Washington, Ctr Integrat Brain Res, Seattle Res Inst, Div Genet Med,Dept Pediat, Seattle, WA 98195 USA.
[Wheless, James] LeBonheur Childrens Hosp, Memphis, TN USA.
[Wheless, James] Univ Tennessee, Memphis, TN USA.
[Paciorkowski, Alex R.] Univ Rochester, Med Ctr, Ctr Neural Dev & Dis, Dept Pediat, Rochester, NY 14642 USA.
[Paciorkowski, Alex R.] Univ Rochester, Med Ctr, Ctr Neural Dev & Dis, Dept Biomed Genet, Rochester, NY 14642 USA.
RP Paciorkowski, AR (reprint author), Univ Rochester, Med Ctr, 601 Elmwood Ave, Rochester, NY 14642 USA.
EM Alex_Paciorkowski@urmc.rochester.edu
FU National Institute of Neurological Disorders and Stroke (NINDS) of the
National Institutes of Health (NIH) [K12NS066098, R01NS058721]; Child
Neurology Foundation; [K08NS078054]
FX We wish to acknowledge the FOXG1 Foundation for referring subjects to
this study. Research reported in this publication was supported by the
National Institute of Neurological Disorders and Stroke (NINDS) of the
National Institutes of Health (NIH) under award numbers K12NS066098 (to
L. E. S.) R01NS058721 (to W. B. D.), the Child Neurology Foundation
Logan Infantile Spasms Award (to A. R. P), and K08NS078054 (to A.R.P.).
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NR 26
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0013-9580
EI 1528-1167
J9 EPILEPSIA
JI Epilepsia
PD AUG
PY 2014
VL 55
IS 8
BP 1292
EP 1300
DI 10.1111/epi.12648
PG 9
WC Clinical Neurology
SC Neurosciences & Neurology
GA AP7CW
UT WOS:000342236400024
PM 24836831
ER
PT J
AU Wegbreit, E
Cushman, GK
Puzia, ME
Weissman, AB
Kim, KL
Laird, AR
Dickstein, DP
AF Wegbreit, Ezra
Cushman, Grace K.
Puzia, Megan E.
Weissman, Alexandra B.
Kim, Kerri L.
Laird, Angela R.
Dickstein, Daniel P.
TI Developmental Meta-analyses of the Functional Neural Correlates of
Bipolar Disorder
SO JAMA PSYCHIATRY
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; VOXEL-BASED MORPHOMETRY; FALSE DISCOVERY
RATE; RESPONSE-INHIBITION; FACIAL EXPRESSIONS; MOTOR INHIBITION; ALE
METAANALYSIS; NATIONAL TRENDS; FOLLOW-UP; BRAIN
AB IMPORTANCE Bipolar disorder (BD) is a debilitating mental illness associated with high costs to diagnosed individuals and society. Within the past 2 decades, increasing numbers of children and adolescents have been diagnosed as having BD. While functional magnetic resonance imaging (fMRI) studies have begun to investigate the neural mechanisms underlying BD, few have directly compared differences in youths with BD and adults with BD (hereafter BD-youths and BD-adults, respectively).
OBJECTIVE To test the hypothesis that BD-youths (<18 years old) would show greater convergence of amygdala hyperactivation and prefrontal cortical hypoactivation vs BD-adults.
DATA SOURCES PubMed and PsycINFO databases were searched on July 17, 2013, for original, task-related coordinate-based fMRI articles.
STUDY SELECTION In total, 21 pediatric studies, 73 adult studies, and 2 studies containing distinct pediatric and adult groups within the same study met inclusion criteria for our ALE analyses.
DATA EXTRACTION AND SYNTHESIS Coordinates of significant between-group differences were extracted from each published study. Recent improvements in GingerALE software were used to perform direct comparisons of pediatric and adult fMRI findings. We conducted activation likelihood estimation (ALE) meta-analyses directly comparing the voxelwise convergence of fMRI findings in BD-youths vs BD-adults, both relative to healthy control (HC) participants.
RESULTS Analyses of emotional face recognition fMRI studies showed significantly greater convergence of amygdala hyperactivation among BD-youths than BD-adults. More broadly, analyses of fMRI studies using emotional stimuli showed significantly greater convergence of hyperactivation among BD-youths than BD-adults in the inferior frontal gyrus and precuneus. In contrast, analyses of fMRI studies using nonemotional cognitive tasks and analyses aggregating emotional and nonemotional tasks showed significantly greater convergence of hypoactivation among BD-youths than BD-adults in the anterior cingulate cortex.
CONCLUSIONS AND RELEVANCE Our data suggest that amygdala, prefrontal, and visual system hyperactivation is important in the emotional dysfunction present in BD-youths, as well as that anterior cingulate cortex hypoactivation is relevant to the cognitive deficits in BD-youths. Future studies are required to determine if the developmental fMRI differences between BD-youths and BD-adults identified by our ALE meta-analyses are useful as brain-based diagnostic or treatment markers of BD, including either longitudinal neuroimaging studies of BD-youths as they become adults or cross-sectional imaging studies directly comparing BD-youths with BD-adults.
C1 [Wegbreit, Ezra; Cushman, Grace K.; Puzia, Megan E.; Weissman, Alexandra B.; Kim, Kerri L.; Dickstein, Daniel P.] Brown Univ, Alpert Med Sch, Dept Psychiat & Human Behav, Pediat Mood Imaging & Neurodev Program, East Providence, RI 02915 USA.
[Wegbreit, Ezra; Cushman, Grace K.; Puzia, Megan E.; Weissman, Alexandra B.; Kim, Kerri L.; Dickstein, Daniel P.] Bradley Hosp, East Providence, RI USA.
[Laird, Angela R.] Florida Int Univ, Dept Phys, Miami, FL 33199 USA.
RP Wegbreit, E (reprint author), Brown Univ, Alpert Med Sch, Dept Psychiat & Human Behav, Pediat Mood Imaging & Neurodev Program, 1011 Vet Mem Pkwy, East Providence, RI 02915 USA.
EM ezra_wegbreit@brown.edu
FU National Institutes of Health [5T32-MH019927-20, R01-MH074457,
R01-MH084812, 5R01-MH087513, 1R21-MH096850, 1R01-MH099703,
5R01-MH092450]
FX Dr Wegbreit is supported by grant 5T32-MH019927-20 from the National
Institutes of Health. Dr Laird is supported by grants R01-MH074457 and
R01-MH084812 from the National Institutes of Health. Mss Cushman, Puzia,
and Weissman and Drs Kim and Dickstein are supported by grants
5R01-MH087513, 1R21-MH096850, 1R01-MH099703, and 5R01-MH092450 from the
National Institutes of Health, although the present study was not part
of any of these grants.
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Young ME, 2013, J AFFECT DISORDERS, V150, P1096, DOI 10.1016/j.jad.2013.04.027
NR 74
TC 1
Z9 1
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA
SN 2168-622X
EI 2168-6238
J9 JAMA PSYCHIAT
JI JAMA Psychiatry
PD AUG
PY 2014
VL 71
IS 8
BP 926
EP 935
DI 10.1001/jamapsychiatry.2014.660
PG 10
WC Psychiatry
SC Psychiatry
GA AP0SP
UT WOS:000341774600011
PM 25100166
ER
PT J
AU Lyall, K
Constantino, JN
Weisskopf, MG
Roberts, AL
Ascherio, A
Santangelo, SL
AF Lyall, Kristen
Constantino, John N.
Weisskopf, Marc G.
Roberts, Andrea L.
Ascherio, Alberto
Santangelo, Susan L.
TI Parental Social Responsiveness and Risk of Autism Spectrum Disorder in
Offspring
SO JAMA PSYCHIATRY
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; GENERAL-POPULATION; SCALE SRS;
DIAGNOSTIC INTERVIEW; TRAITS; SIBLINGS; TWIN; IMPAIRMENT; VALIDATION;
RECURRENCE
AB IMPORTANCE Although autism spectrum disorder (ASD) is known to be heritable, patterns of inheritance of subclinical autistic traits in nonclinical samples are poorly understood.
OBJECTIVE To examine the familiality of Social Responsiveness Scale (SRS) scores of individuals with and without ASD.
DESIGN, SETTING, AND PARTICIPANTS We performed a nested case-control study (pilot study: July 1, 2007, through June 30,2009; full-scale study: September 15, 20 08, through September 14, 2012) within a population-based longitudinal cohort. Participants were drawn from the Nurses' Health Study II, a cohort of 116 430 female nurses recruited in 1989. Case participants were index children with reported ASD; control participants were frequency matched by year of birth of case participants among those not reporting ASD. Of 3161 eligible participants, 2144 nurses (67.8%) returned SRS forms for a child and at least 1 parent and were included in these analyses.
EXPOSURE The SRS scores, as reported by nurse mothers and their spouses, were examined in association with risk of ASD using crude and adjusted logistic regression analyses. The SRS scores of the children were examined in association with SRS scores of the parents using crude and adjusted linear regression analyses stratified by case status.
MAIN OUTCOMES AND MEASURES Autism spectrum disorder, assessed by maternal report, validated in a subgroup with the Autism Diagnostic Interview-Revised.
RESULTS A total of 1649 individuals were included in these analyses, including 256 ASD case participants, 1393 control participants, 1233 mothers, and 1614 fathers. Risk of ASD was increased by 85.0% among children whose parents had concordantly elevated SRS scores (odds ratio [OR] 1.85; 95% CI, 1.08-3.16) and by 52.0% when the score of either parent was elevated (OR, 1.52; 95% CI, 1.11-2.06). Elevated scores of the father significantly increased the risk of ASD in the child (OR, 1.94; 95% CI, 1.38-2.71), but no association was seen with elevated scores of the mother. Elevated parent scores significantly increased child scores in controls, corresponding to an increase in 23 points (P < .001).
CONCLUSIONS AND RELEVANCE These findings support the role of additive genetic influences in concentrating inherited ASD susceptibility in successive generations and the potential role of preferential mating, and suggest that typical variation in parental social functioning can produce clinically significant differences in offspring social traits.
C1 [Lyall, Kristen; Ascherio, Alberto] Harvard Univ, Sch Publ Hlth, Dept Nutr, Boston, MA 02115 USA.
[Lyall, Kristen] Univ Calif Davis, Dept Publ Hlth Sci, Davis, CA 95616 USA.
[Constantino, John N.] Washington Univ, Dept Psychiat, St Louis, MO USA.
[Weisskopf, Marc G.; Ascherio, Alberto; Santangelo, Susan L.] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA.
[Weisskopf, Marc G.] Harvard Univ, Sch Publ Hlth, Dept Environm Hlth, Boston, MA 02115 USA.
[Roberts, Andrea L.] Harvard Univ, Sch Publ Hlth, Dept Social & Behav Sci, Boston, MA 02115 USA.
[Ascherio, Alberto] Brigham & Womens Hosp, Dept Med, Channing Div Network Med, Boston, MA 02115 USA.
[Ascherio, Alberto] Harvard Univ, Sch Med, Boston, MA 02115 USA.
[Santangelo, Susan L.] Maine Med Ctr, Res Inst, Dept Psychiat, Portland, ME USA.
RP Lyall, K (reprint author), Harvard Univ, Sch Publ Hlth, Dept Nutr, 655 Huntington Ave,Bldg 2,Third Floor, Boston, MA 02115 USA.
EM klyall@hsph.harvard.edu
FU National Institutes of Health [CA50385, HD062171, HD042541]; Autism
Speaks [1788, 2210]; US Army Medical Research and Material Command
[A-14917]
FX This work was supported by grants CA50385, HD062171, and HD042541 from
the National Institutes of Health, grants 1788 and 2210 from Autism
Speaks, and grant A-14917 from the US Army Medical Research and Material
Command.
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Yang Y, 2013, MULTIPLE IMPUTATION
NR 36
TC 3
Z9 3
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA
SN 2168-622X
EI 2168-6238
J9 JAMA PSYCHIAT
JI JAMA Psychiatry
PD AUG
PY 2014
VL 71
IS 8
BP 936
EP 942
DI 10.1001/jamapsychiatry.2014.476
PG 7
WC Psychiatry
SC Psychiatry
GA AP0SP
UT WOS:000341774600012
PM 25100167
ER
PT J
AU Hoffmann, TJ
Windham, GC
Anderson, M
Croen, LA
Grether, JK
Risch, N
AF Hoffmann, Thomas J.
Windham, Gayle C.
Anderson, Meredith
Croen, Lisa A.
Grether, Judith K.
Risch, Neil
TI Evidence of Reproductive Stoppage in Families With Autism Spectrum
Disorder A Large, Population-Based Cohort Study
SO JAMA PSYCHIATRY
LA English
DT Article
ID EPIDEMIOLOGIC SURVEY; RISK; RECURRENCE; TWIN; SIBLINGS
AB IMPORTANCE Few studies have examined the curtailment of reproduction (ie, stoppage) after the diagnosis of a child with autism spectrum disorder (ASD).
OBJECTIVE To examine stoppage in a large, population-based cohort of families in which a child has received a diagnosis of ASD.
DESIGN, SETTING, AND PARTICIPANTS Individuals with ASD born from January 1,1990, through December 31, 2003, were identified in the California Department of Developmental Services records, which were then linked to state birth certificates to identify full sibs and half-sibs and to obtain information on birth order and demographics. A total of 19 710 case families in which the first birth occurred within the study period was identified. These families included 39 361 individuals (sibs and half-sibs). Control individuals were randomly sampled from birth certificates and matched 2:1 to cases by sex, birth year, and maternal age, self-reported race/ethnicity, and county of birth after removal of children receiving services from the California Department of Developmental Services. Using similar linkage methods as for case families, 36 215 pure control families (including 75 724 total individuals) were identified that had no individuals with an ASD diagnosis.
EXPOSURES History of affected children.
MAIN OUTCOMES AND MEASURES Stoppage was investigated by comparing the reproductive behaviors of parents after the birth of a child with ASD vs an unaffected child using a survival analysis framework for time to next birth and adjusting for demographic variables.
RESULTS For the first few years after the birth of a child with ASD, the parents' reproductive behavior was similar to that of control parents. However, birth rates differed in subsequent years; overall, families whose first child had ASD had a second child at a rate of 0.668 (95% CI, 0.635-0.701) that of control families, adjusted for birth year, birth weight, maternal age, and self-reported maternal race/ethnicity. Results were similar when a later-born child was the first affected child in the family. Reproductive curtailment was slightly stronger among women who changed partners (relative rate for second-born children, 0.553 [95% CI, 0.498-0.614]).
CONCLUSIONS AND RELEVANCE These results provide the first quantitative assessment and convincing statistical evidence of reproductive stoppage related to ASD. These findings have implications for recurrence risk estimation and genetic counseling.
C1 [Hoffmann, Thomas J.; Risch, Neil] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA.
[Hoffmann, Thomas J.; Risch, Neil] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA.
[Windham, Gayle C.; Anderson, Meredith; Grether, Judith K.] Calif Dept Publ Hlth, Environm Hlth Invest Branch, Richmond, CA USA.
[Croen, Lisa A.; Risch, Neil] Kaiser Permanente, Div Res, Oakland, CA USA.
RP Risch, N (reprint author), Univ Calif San Francisco, Inst Human Genet, 513 Parnassus Ave, San Francisco, CA 94143 USA.
EM rischn@humgen.ucsf.edu
FU Institute for Human Genetics, University of California, San Francisco;
National Cancer Institute [R25 CA112355]
FX This work was supported by funds from the Institute for Human Genetics,
University of California, San Francisco, and by grant R25 CA112355 from
the National Cancer Institute.
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NR 20
TC 1
Z9 1
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA
SN 2168-622X
EI 2168-6238
J9 JAMA PSYCHIAT
JI JAMA Psychiatry
PD AUG
PY 2014
VL 71
IS 8
BP 943
EP 951
DI 10.1001/jamapsychiatry.2014.420
PG 9
WC Psychiatry
SC Psychiatry
GA AP0SP
UT WOS:000341774600013
PM 24942798
ER
PT J
AU Laprime, AP
Dittrich, GA
AF Laprime, Amanda P.
Dittrich, Gretchen A.
TI An Evaluation of a Treatment Package Consisting of Discrimination
Training and Differential Reinforcement with Response Cost and a Social
Story on Vocal Stereotypy for a Preschooler with Autism in a Preschool
Classroom
SO EDUCATION AND TREATMENT OF CHILDREN
LA English
DT Article
DE Vocal Stereotypy; Response Cost; Differential Reinforcement;
Changing-Criterion Design
ID AUTOMATIC REINFORCEMENT; BEHAVIOR DISORDERS; YOUNG-CHILDREN; DRL; INJURY
AB The purpose of the study was to evaluate the use of a treatment package comprised of a social story, discrimination training, and differential reinforcement with response cost on the vocal stereotypy of one preschooler diagnosed with an autism spectrum disorder. The study took place in a preschool classroom of a public school and was implemented by the classroom teacher and staff. A changing criterion design was employed to evaluate experimental control. The results of this study demonstrated a clear decrease in vocal stereotypy as compared to baseline.
C1 [Laprime, Amanda P.; Dittrich, Gretchen A.] Simmons Coll, Boston, MA 02115 USA.
RP Laprime, AP (reprint author), Simmons Coll, Dept Behav Anal, 300 Fenway, Boston, MA 02115 USA.
EM aplaprime@gmail.com
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Martin G, 2010, BEHAV MODIFICATION W
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NR 38
TC 0
Z9 0
PU WEST VIRGINIA UNIV PRESS
PI MORGANTOWN
PA COMMUNICATIONS BLDG PATTESON DR, PO BOX 6295, MORGANTOWN, WV 26506-6295
USA
SN 0748-8491
EI 1934-8924
J9 EDUC TREAT CHILD
JI Educ. Treat. Child.
PD AUG
PY 2014
VL 37
IS 3
BP 407
EP 430
PG 24
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AP4GL
UT WOS:000342035100003
ER
PT J
AU Ruan, CS
Wang, SF
Shen, YJ
Guo, Y
Yang, CR
Zhou, FH
Tan, LT
Zhou, L
Liu, JJ
Wang, WY
Xiao, ZC
Zhou, XF
AF Ruan, Chun-Sheng
Wang, Shu-Fen
Shen, Yan-Jun
Guo, Yi
Yang, Chun-Rui
Zhou, Fiona H.
Tan, Li-Tao
Zhou, Li
Liu, Jian-Jun
Wang, Wen-Yue
Xiao, Zhi-Cheng
Zhou, Xin-Fu
TI Deletion of TRIM32 protects mice from anxiety- and depression-like
behaviors under mild stress
SO EUROPEAN JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE affective behavior; CUMS; fluoxetine; locomotor activity; TRIM32
ID ADULT HIPPOCAMPAL NEUROGENESIS; ELEVATED ZERO-MAZE; DYSTROPHY TYPE 2H;
SOCIAL-ISOLATION; MOUSE MODEL; RAT MODEL; APOPTOSIS; CELLS; DOPAMINE;
DIFFERENTIATION
AB Chronic stress causes a variety of psychiatric disorders such as anxiety and depression, but its mechanism is not well understood. Tripartite motif-containing protein 32 (TRIM32) was strongly associated with autism spectrum disorder, attention deficit hyperactivity disorder, anxiety and obsessive compulsive disorder based on a study of copy number variation, and deletion of TRIM32 increased neural proliferation and reduced apoptosis. Here, we propose that TRIM32 is involved in chronic stress-induced affective behaviors. Using a chronic unpredictable mild stress mouse depression model, we studied expression of TRIM32 in brain tissue samples and observed behavioral changes in Trim32 knockout mice. The results showed that TRIM32 protein but not its mRNA was significantly reduced in hippocampus in a time-dependent manner within 8 weeks of chronic stress. These stress-induced affective behaviors and reduction of TRIM32 protein expression were significantly reversed by antidepressant fluoxetine treatment. In addition, Trim32 knockout mice showed reduced anxiety and depressive behaviors and hyperactivities compared with Trim32 wild-type mice under normal and mild stress conditions. We conclude that TRIM32 plays important roles in regulation of hyperactivities and positively regulates the development of anxiety and depression disorders induced by chronic stress.
C1 [Ruan, Chun-Sheng; Wang, Shu-Fen; Shen, Yan-Jun; Guo, Yi; Yang, Chun-Rui; Tan, Li-Tao; Zhou, Li; Liu, Jian-Jun; Wang, Wen-Yue; Xiao, Zhi-Cheng; Zhou, Xin-Fu] Kunming Med Univ, Inst Mol & Clin Med, Key Lab Stem Cell & Regenerat Med, Kunming, Peoples R China.
[Ruan, Chun-Sheng; Zhou, Fiona H.; Zhou, Xin-Fu] Univ S Australia, Sch Pharm & Med Sci, Div Hlth Sci, Adelaide, SA 5000, Australia.
[Shen, Yan-Jun; Guo, Yi; Yang, Chun-Rui] Kunming Med Univ, Sch Med Sci, Kunming, Peoples R China.
[Xiao, Zhi-Cheng] Monash Univ, Dept Anat & Dev Biol, Clayton, Vic, Australia.
RP Ruan, CS (reprint author), Univ S Australia, Sch Pharm & Med Sci, Div Hlth Sci, Adelaide, SA 5000, Australia.
EM ruacy004@mymail.unisa.edu.au
FU Chinese MST [2011CB944200]; NHMRC [APP1021408, APP1021409]; Talent
Program of Yunnan Province, China; Monash University, Australia;
KMU-UIEP [CX201111, CX201244, CX201241]
FX We thank Dr H. Ding for kindly providing TRIM32 knockout mice and Dr J.
C. Schwamborn for kindly providing antibody against TRIM32. We thank Dr
B. T. Baune for valuable comments. This work was supported by grants
from the Chinese MST 2011CB944200 and NHMRC grants (APP1021408 and
APP1021409), the Talent Program of Yunnan Province, China, and The
Professorial Fellowship of Monash University, Australia, to Z.C.X., and
KMU-UIEP grants (CX201111, CX201244 and CX201241) to C. S. R. X.F.Z. is
a visiting Professor of KMU.
CR Anacker C., 2014, CURR TOP BEHAV NEURO, DOI [10.1007/7854_2014_275, DOI 10.1007/7854_2014_275]
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NR 55
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0953-816X
EI 1460-9568
J9 EUR J NEUROSCI
JI Eur. J. Neurosci.
PD AUG
PY 2014
VL 40
IS 4
BP 2680
EP 2690
DI 10.1111/ejn.12618
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AP3NF
UT WOS:000341982100009
PM 24839933
ER
PT J
AU Wolff, JJ
Piven, J
AF Wolff, Jason J.
Piven, Joseph
TI NEURODEVELOPMENTAL DISORDERS Accelerating progress in autism through
developmental research
SO NATURE REVIEWS NEUROLOGY
LA English
DT Editorial Material
ID ADOLESCENCE; CHILDHOOD
AB Autism is arguably the quintessential neurodevelopmental disorder. However, despite an explosion of research over the past decade, we know relatively little about the development of autism itself. Recent longitudinal research has provided important new insights-and has raised new questions-concerning the complexities of the disorder.
C1 [Wolff, Jason J.; Piven, Joseph] Univ N Carolina, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA.
RP Piven, J (reprint author), Univ N Carolina, Carolina Inst Dev Disabil, CB 3366, Chapel Hill, NC 27599 USA.
EM jpiven@med.unc.edu
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NR 10
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1759-4758
EI 1759-4766
J9 NAT REV NEUROL
JI Nat. Rev. Neurol.
PD AUG
PY 2014
VL 10
IS 8
BP 431
EP +
DI 10.1038/nrneurol.2014.126
PG 2
WC Clinical Neurology
SC Neurosciences & Neurology
GA AP0YE
UT WOS:000341791700002
PM 25023342
ER
PT J
AU Hebert, B
Pietropaolo, S
Meme, S
Laudier, B
Laugeray, A
Doisne, N
Quartier, A
Lefeuvre, S
Got, L
Cahard, D
Laumonnier, F
Crusio, WE
Pichon, J
Menuet, A
Perche, O
Briault, S
AF Hebert, Betty
Pietropaolo, Susanna
Meme, Sandra
Laudier, Beatrice
Laugeray, Anthony
Doisne, Nicolas
Quartier, Angelique
Lefeuvre, Sandrine
Got, Laurence
Cahard, Dominique
Laumonnier, Frederic
Crusio, Wim E.
Pichon, Jacques
Menuet, Arnaud
Perche, Olivier
Briault, Sylvain
TI Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa
channel opener molecule
SO ORPHANET JOURNAL OF RARE DISEASES
LA English
DT Article
DE Fragile X Syndrome; BMS-204352; BKCa channel; Sociability; Cognition;
Anxiety
ID ELEVATED PLUS-MAZE; MENTAL-RETARDATION SYNDROME; SYNDROME MOUSE MODEL;
2-TRIAL MEMORY TASK; KNOCKOUT MICE; POTASSIUM CHANNELS; BEHAVIOR;
AUTISM; MORPHOLOGY; ANXIETY
AB Background: Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability and is also associated with autism spectrum disorders. Previous studies implicated BKCa channels in the neuropathogenesis of FXS, but the main question was whether pharmacological BKCa stimulation would be able to rescue FXS neurobehavioral phenotypes.
Methods and results: We used a selective BKCa channel opener molecule (BMS-204352) to address this issue in Fmr1 KO mice, modeling the FXS pathophysiology. In vitro, acute BMS-204352 treatment (10 mu M) restored the abnormal dendritic spine phenotype. In vivo, a single injection of BMS-204352 (2 mg/kg) rescued the hippocampal glutamate homeostasis and the behavioral phenotype. Indeed, disturbances in social recognition and interaction, non-social anxiety, and spatial memory were corrected by BMS-204352 in Fmr1 KO mice.
Conclusion: These results demonstrate that the BKCa channel is a new therapeutic target for FXS. We show that BMS-204352 rescues a broad spectrum of behavioral impairments (social, emotional and cognitive) in an animal model of FXS. This pharmacological molecule might open new ways for FXS therapy.
C1 [Hebert, Betty; Laudier, Beatrice; Laugeray, Anthony; Doisne, Nicolas; Quartier, Angelique; Pichon, Jacques; Menuet, Arnaud; Perche, Olivier; Briault, Sylvain] CNRS, UMR7355, F-45071 Orleans, France.
[Hebert, Betty; Laudier, Beatrice; Laugeray, Anthony; Doisne, Nicolas; Quartier, Angelique; Pichon, Jacques; Menuet, Arnaud; Perche, Olivier; Briault, Sylvain] Univ Orleans, F-45071 Orleans 2, France.
[Pietropaolo, Susanna; Crusio, Wim E.] CNRS, Aquitaine Inst Cognit & Integrat Neurosci, UMR 5287, Talence, France.
[Pietropaolo, Susanna; Crusio, Wim E.] Univ Bordeaux, Aquitaine Inst Cognit & Integrat Neurosci, F-33405 Talence, France.
[Meme, Sandra] Univ Orleans, CNRS, Ctr Biophys Mol, UPR4301, F-45071 Orleans, France.
[Laudier, Beatrice; Lefeuvre, Sandrine; Got, Laurence; Perche, Olivier; Briault, Sylvain] Reg Hosp, Dept Genet, F-45100 Orleans, France.
[Cahard, Dominique] INSA Rouen, UMR CNRS CBRA 6014, F-76821 Mont St Aignan, France.
[Laumonnier, Frederic] INSERM, U930, F-37032 Tours, France.
[Laumonnier, Frederic] Univ Tours, UMR Imagerie & Cerveau, F-37000 Tours, France.
RP Briault, S (reprint author), CNRS, UMR7355, F-45071 Orleans, France.
EM sbriault@cnrs-orleans.fr
RI Crusio, Wim/A-7070-2008
OI Crusio, Wim/0000-0001-6638-202X
FU Fondation de France [015448]; FRAXA Research Foundation (USA); FEDER
Autism [35106]; Fondation Lejeune; CNRS (Soutien au transfert)
[04388-02]; Region Centre; Regional Hospital of Orleans; University of
Orleans; Project FP7 GENCODYS [241995]; March of Dimes [12-FY05-1198];
Conseil Regional d'Aquitaine; CNRS; University of Bordeaux 1
FX We would like to thank Melanie Marcos for her excellent technical
support and Alexandre Herpin, Jerome Larrigaldie and Ludovic Mercier for
animal breeding. We also thank Jean-Claude Beloeil and Valerie Quesniaux
for their continued support of the project. Research was supported in
part by grants from Fondation de France 015448, The FRAXA Research
Foundation (USA), FEDER Autism 35106, Fondation Lejeune, CNRS (Soutien
au transfert 04388-02), Region Centre, Regional Hospital of Orleans, the
University of Orleans and Project FP7 GENCODYS (no241995, to FL). W.C.
and S.P. were supported by grants from the March of Dimes
(12-FY05-1198), Conseil Regional d'Aquitaine, CNRS, and the University
of Bordeaux 1 to W.C.
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NR 56
TC 2
Z9 2
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1750-1172
J9 ORPHANET J RARE DIS
JI Orphanet J. Rare Dis.
PD AUG 1
PY 2014
VL 9
AR 124
DI 10.1186/s13023-014-0124-6
PG 10
WC Genetics & Heredity; Medicine, Research & Experimental
SC Genetics & Heredity; Research & Experimental Medicine
GA AP0FC
UT WOS:000341735700001
PM 25079250
ER
PT J
AU Lancioni, GE
Singh, NN
O'Reilly, MF
Sigafoos, J
Boccasini, A
La Martire, ML
Lang, R
AF Lancioni, Giulio E.
Singh, Nirbhay N.
O'Reilly, Mark F.
Sigafoos, Jeff
Boccasini, Adele
La Martire, Maria L.
Lang, Russell
TI CASE STUDIES OF TECHNOLOGY FOR ADULTS WITH MULTIPLE DISABILITIES TO MAKE
TELEPHONE CALLS INDEPENDENTLY
SO PERCEPTUAL AND MOTOR SKILLS
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; INTELLECTUAL DISABILITY; ASSISTIVE
TECHNOLOGY; SOCIAL VALIDATION; BRAIN-INJURY; YOUNG-ADULTS;
COMMUNICATION; INDIVIDUALS; COMPUTER; SYSTEM
AB Recent literature has shown the possibility of enabling individuals with multiple disabilities to make telephone calls independently via computer-aided telephone technology. These two case studies assessed a modified version of such technology and a commercial alternative to it for a woman and a man with multiple disabilities, respectively. The modified version used in Study 1 (a) presented the names of the persons available for a call and (b) reminded the participant of the response she needed to perform (i.e., pressing a microswitch) if she wanted to call any of those names/persons. The commercial device used in Study 2 was a Galaxy S3 (Samsung) equipped with the S-voice module, which allowed the participant to activate phone calls by uttering the word "Call" followed by the name of the persons he wanted to call. The results of the studies showed that the participants learned to make phone calls independently using the technology/device available. Implications of the results are discussed.
C1 [Lancioni, Giulio E.] Univ Bari, I-70100 Bari, Italy.
[Singh, Nirbhay N.] Georgia Regents Univ, Med Coll Georgia, Augusta, GA USA.
[O'Reilly, Mark F.] Univ Texas Austin, Austin, TX 78712 USA.
[Sigafoos, Jeff] Victoria Univ Wellington, Wellington, New Zealand.
[Boccasini, Adele; La Martire, Maria L.] Lega F DOro Res Ctr, Osimo, Italy.
[Boccasini, Adele; La Martire, Maria L.] Lega F DOro Res Ctr, Molfetta, Italy.
[Lang, Russell] Texas State Univ San Marcos, San Marcos, TX USA.
RP Lancioni, GE (reprint author), Univ Bari, Dept Neurosci & Sense Organs, Via Quintino Sella 268, I-70100 Bari, Italy.
EM giulio.lancioni@uniba.it
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NR 44
TC 0
Z9 0
PU AMMONS SCIENTIFIC, LTD
PI MISSOULA
PA PO BOX 9229, MISSOULA, MT 59807-9229 USA
SN 0031-5125
J9 PERCEPT MOTOR SKILL
JI Percept. Mot. Skills
PD AUG
PY 2014
VL 119
IS 1
BP 320
EP 331
DI 10.2466/15.PMS.119c14z4
PG 12
WC Psychology, Experimental
SC Psychology
GA AO7GV
UT WOS:000341521400028
PM 25153758
ER
PT J
AU Honti, F
Meader, S
Webber, C
AF Honti, Frantisek
Meader, Stephen
Webber, Caleb
TI Unbiased Functional Clustering of Gene Variants with a
Phenotypic-Linkage Network
SO PLOS COMPUTATIONAL BIOLOGY
LA English
DT Article
ID DE-NOVO MUTATIONS; SEMANTIC SIMILARITY; INTELLECTUAL DISABILITY;
COMPREHENSIVE RESOURCE; EXPRESSION PATTERNS; DISEASE GENES; DATABASE;
AUTISM; MOUSE; ONTOLOGY
AB Groupwise functional analysis of gene variants is becoming standard in next-generation sequencing studies. As the function of many genes is unknown and their classification to pathways is scant, functional associations between genes are often inferred from large-scale omics data. Such data types-including protein-protein interactions and gene co-expression networks-are used to examine the interrelations of the implicated genes. Statistical significance is assessed by comparing the interconnectedness of the mutated genes with that of random gene sets. However, interconnectedness can be affected by confounding bias, potentially resulting in false positive findings. We show that genes implicated through de novo sequence variants are biased in their coding-sequence length and longer genes tend to cluster together, which leads to exaggerated p-values in functional studies; we present here an integrative method that addresses these bias. To discern molecular pathways relevant to complex disease, we have inferred functional associations between human genes from diverse data types and assessed them with a novel phenotype-based method. Examining the functional association between de novo gene variants, we control for the heretofore unexplored confounding bias in coding-sequence length. We test different data types and networks and find that the disease-associated genes cluster more significantly in an integrated phenotypic-linkage network than in other gene networks. We present a tool of superior power to identify functional associations among genes mutated in the same disease even after accounting for significant sequencing study bias and demonstrate the suitability of this method to functionally cluster variant genes underlying polygenic disorders.
C1 [Honti, Frantisek; Meader, Stephen; Webber, Caleb] Univ Oxford, Dept Physiol Anat & Genet, MRC Funct Genom Unit, Oxford, England.
RP Honti, F (reprint author), Univ Oxford, Dept Physiol Anat & Genet, MRC Funct Genom Unit, Oxford, England.
EM caleb.webber@dpag.ox.ac.uk
FU Medical Research Council, UK under the EU [241995]
FX This work was funded by the Medical Research Council, UK, under the EU
7th Framework Programme, project GENCODYS (grant no. 241995). The
funders had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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NR 45
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1553-734X
EI 1553-7358
J9 PLOS COMPUT BIOL
JI PLoS Comput. Biol.
PD AUG
PY 2014
VL 10
IS 8
AR e1003815
DI 10.1371/journal.pcbi.1003815
PG 7
WC Biochemical Research Methods; Mathematical & Computational Biology
SC Biochemistry & Molecular Biology; Mathematical & Computational Biology
GA AO8AE
UT WOS:000341573600050
PM 25166029
ER
PT J
AU Sondenaa, E
Helverschou, SB
Steindal, K
Rasmussen, K
Nilson, B
Nottestad, JA
AF Sondenaa, Erik
Helverschou, Sissel Berge
Steindal, Kari
Rasmussen, Kirsten
Nilson, Britta
Nottestad, Jim Aage
TI VIOLENCE AND SEXUAL OFFENDING BEHAVIOR IN PEOPLE WITH AUTISM SPECTRUM
DISORDER WHO HAVE UNDERGONE A PSYCHIATRIC FORENSIC EXAMINATION
SO PSYCHOLOGICAL REPORTS
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; ASPERGERS-SYNDROME; CRIMINAL
BEHAVIOR; PREVALENCE; PERSONALITY; JUVENILE; DEFICITS; SAMPLE; CRIME;
RISK
AB The increased awareness of Autism Spectrum Disorders (ASD) over the last few decades as well as the potential association between ASD and off ending behaviors has spurred a need for increased research in this area. In order to explore any possible relationship between ASD and violent or sexual crime the present study examines all forensic examination reports over a 10-yr. period in Norway where the charged persons were diagnosed with ASD and charged with either a violent (N = 21) or a sexual (N = 12) offense. Differences between these two groups regarding previous contact with child welfare and confessions to the offense were found. There was also a tendency toward more severe mental health problems and less intellectual problems among the violent off enders than the sexual off enders.
C1 [Sondenaa, Erik] St Olavs Hosp, N-7440 Trondheim, Norway.
[Sondenaa, Erik] Univ Coll Sor Trondelag, Trondheim, Norway.
[Helverschou, Sissel Berge; Steindal, Kari; Nilson, Britta] Oslo Univ Hosp, Natl Autism Unit, Oslo, Norway.
[Rasmussen, Kirsten] St Olavs Hosp, Trondheim, Norway.
[Rasmussen, Kirsten; Nottestad, Jim Aage] NTNU Inst Psychol, Trondheim, Norway.
[Sondenaa, Erik; Nottestad, Jim Aage] St Olavs Hosp, Dep Broset, N-7440 Trondheim, Norway.
RP Sondenaa, E (reprint author), St Olavs Hosp, Dep Broset, Postbox 1803, N-7440 Trondheim, Norway.
EM erik.sondenaa@ntnu.no
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NR 42
TC 0
Z9 0
PU AMMONS SCIENTIFIC, LTD
PI MISSOULA
PA PO BOX 9229, MISSOULA, MT 59807-9229 USA
SN 0033-2941
J9 PSYCHOL REP
JI Psychol. Rep.
PD AUG
PY 2014
VL 115
IS 1
BP 32
EP 43
DI 10.2466/16.15.PR0.115c16z5
PG 12
WC Psychology, Multidisciplinary
SC Psychology
GA AO7HB
UT WOS:000341522100005
PM 25073065
ER
PT J
AU Cafferkey, M
Ahn, JW
Flinter, F
Ogilvie, C
AF Cafferkey, Michiala
Ahn, Joo Wook
Flinter, Frances
Ogilvie, Caroline
TI Phenotypic Features in Patients With 15q11.2(BP1-BP2) Deletion: Further
Delineation of an Emerging Syndrome
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE 15q11.2(BP1-BP2) deletion; array CGH; CNV; NIPA1
ID PRADER-WILLI-SYNDROME; COMPARATIVE GENOMIC HYBRIDIZATION;
GLOBUS-PALLIDUS DYSFUNCTION; COPY NUMBER VARIATION; TEST IN-PLACE;
DEVELOPMENTAL DELAY; RECURRENT MICRODELETIONS; ANGELMAN-SYNDROME;
CRITICAL REGION; ARRAY CGH
AB 15q11.2 deletions flanked by BP1 and BP2 of the Prader-Willi/Angelman syndrome region have recently been linked to a range of neurodevelopment disorders including intellectual disability, speech and language delay, motor delay, autism spectrum disorders, epilepsy, and schizophrenia. Array CGH analysis of 14,605 patients referred for diagnostic cytogenetic testing found that 83 patients (0.57%) carried the 15q11.2(BP1-BP2) deletion. Phenotypic frequencies in the deleted cohort (n = 83) were compared with frequencies in the non-deleted cohort (n = 14,522); developmental delay, motor delay, and speech and language delay were all more prevalent in the deleted cohort. Notably, motor delay was significantly more common (OR = 6.37). These data indicate that developmental delay, motor delay, and speech and language delay are common clinical features associated with this deletion, providing substantial evidence to support this CNV as a susceptibility locus for a spectrum of neurodevelopmental disorders. (C) 2014 Wiley Periodicals, Inc.
C1 [Cafferkey, Michiala; Flinter, Frances; Ogilvie, Caroline] Kings Coll London, Dept Med & Mol Genet, London WC2R 2LS, England.
[Ahn, Joo Wook; Flinter, Frances; Ogilvie, Caroline] Guys & St Thomas NHS Fdn Trust, London SE1 9RT, England.
RP Ogilvie, C (reprint author), Guys & St Thomas NHS Fdn Trust, Dept Cytogenet, 5th Floor,Tower Wing,St Thomas St, London SE1 9RT, England.
EM caroline.ogilvie@genetics.kcl.ac.uk
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NR 40
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD AUG
PY 2014
VL 164A
IS 8
BP 1916
EP 1922
DI 10.1002/ajmg.a.36554
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AN5YD
UT WOS:000340667900052
PM 24715682
ER
PT J
AU Mignon-Ravix, C
Cacciagli, P
Choucair, N
Popovici, C
Missirian, C
Milh, M
Megarbane, A
Busa, T
Julia, S
Girard, N
Badens, C
Sigaudy, S
Philip, N
Villard, L
AF Mignon-Ravix, Cecile
Cacciagli, Pierre
Choucair, Nancy
Popovici, Cornel
Missirian, Chantal
Milh, Mathieu
Megarbane, Andre
Busa, Tiffany
Julia, Sophie
Girard, Nadine
Badens, Catherine
Sigaudy, Sabine
Philip, Nicole
Villard, Laurent
TI Intragenic Rearrangements in X-Linked Intellectual Deficiency: Results
of a-CGH in a Series of 54 Patients and Identification of TRPC5 and
KLHL15 As Potential XLID Genes
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE X-linked intellectual disability; array CGH; TRPC5; KLHL15
ID NONSPECIFIC MENTAL-RETARDATION; CEREBELLAR HYPOPLASIA; XLMR GENES;
DISABILITY; DELETION; CHANNEL; FAMILY; OPHN1; MUTATION; GROWTH
AB High-resolution array comparative genomic hybridization (a-CGH) enables the detection of intragenic rearrangements, such as single exon deletion or duplication. This approach can lead to the identification of new disease genes. We report on the analysis of 54 male patients presenting with intellectual deficiency (ID) and a family history suggesting X-linked (XL) inheritance or maternal skewed X-chromosome inactivation(XCI), using a home-made X-chromosome-specific microarray covering the whole human X-chromosome at high resolution. The majority of patients had whole genome array-CGH prior to the selection and we did not include large rearrangements such as MECP2 and FMR1 duplications. We identified four rearrangements considered as causative or potentially pathogenic, corresponding to a detection rate of 8%. Two CNVs affected known XLID genes and were therefore considered as causative (IL1RAPL1 and OPHN1 intragenic deletions). Two new CNVs were considered as potentially pathogenic as they affected interesting candidates for ID. The first CNV is a deletion of the first exon of the TRPC5 gene, encoding a cation channel implicated in dendrite growth and patterning, in a child presenting with ID and an autism spectrum disorder (ASD). The second CNV is a partial deletion of KLHL15, in a patient with severe ID, epilepsy, and anomalies of cortical development. In both cases, in spite of strong arguments for clinical relevance, we were not able at this stage to confirm pathogenicity of the mutations, and the causality of the variants identified in XLID remains to be confirmed. (C) 2014 Wiley Periodicals, Inc.
C1 [Mignon-Ravix, Cecile; Cacciagli, Pierre; Choucair, Nancy; Milh, Mathieu; Megarbane, Andre; Badens, Catherine; Philip, Nicole; Villard, Laurent] INSERM, UMR S 910, F-13258 Marseille, France.
[Mignon-Ravix, Cecile; Cacciagli, Pierre; Choucair, Nancy; Milh, Mathieu; Megarbane, Andre; Girard, Nadine; Badens, Catherine; Philip, Nicole; Villard, Laurent] Aix Marseille Univ, GMGF, Marseille, France.
[Cacciagli, Pierre; Popovici, Cornel; Missirian, Chantal; Busa, Tiffany; Badens, Catherine; Sigaudy, Sabine; Philip, Nicole] Hop Enfants La Timone, Dept Genet Med & Biol Cellulaire, Marseille, France.
[Choucair, Nancy; Megarbane, Andre] Univ St Joseph, Unite Genet Med, Beirut, Lebanon.
[Choucair, Nancy; Megarbane, Andre] Univ St Joseph, Lab Associe INSERM, Unite UMR S 910, Pole Technol Sante, Beirut, Lebanon.
[Milh, Mathieu] Hop Enfants La Timone, Serv Neurol Pediat, Marseille, France.
[Julia, Sophie] Hop Purpan, Serv Genet Med, Toulouse, France.
[Girard, Nadine] Hop Enfants La Timone, Serv Neuroradiol, Marseille, France.
RP Villard, L (reprint author), Fac Med La Timone, Inserm UMR S 910, 27 Bd Jean Moulin, F-13385 Marseille 5, France.
EM laurent.villard@univ-amu.fr
RI POPOVICI, Cornel/A-2027-2009
OI POPOVICI, Cornel/0000-0001-8226-3127
FU INSERM; Aix Marseille University
FX Grant sponsor: INSERM; Grant sponsor: Aix Marseille University.
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NR 41
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD AUG
PY 2014
VL 164A
IS 8
BP 1991
EP 1997
DI 10.1002/ajmg.a.36602
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AN5YD
UT WOS:000340667900061
PM 24817631
ER
PT J
AU Filges, I
Sparagana, S
Sargent, M
Selby, K
Schlade-Bartusiak, K
Lueder, GT
Robichaux-Viehoever, A
Schlaggar, BL
Shimony, JS
Shinawi, M
AF Filges, Isabel
Sparagana, Steven
Sargent, Michael
Selby, Kathryn
Schlade-Bartusiak, Kamilla
Lueder, Gregg T.
Robichaux-Viehoever, Amy
Schlaggar, Bradley L.
Shimony, Joshua S.
Shinawi, Marwan
TI Brain MRI Abnormalities and Spectrum of Neurological and Clinical
Findings in Three Patients With Proximal 16p11.2 Microduplication
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE 16p11.2; microduplication; T2-hyperintensity; MRI; neurological
ID CHROMOSOME 16P11.2; AUTISM; PHENOTYPES; DISORDERS; REARRANGEMENTS;
MICRODELETION; EXPRESSION; DELETIONS; DOSAGE
AB The phenotype of recurrent similar to 600 kb microdeletion and microduplication on proximal 16p11.2 is characterized by a spectrum of neurodevelopmental impairments including developmental delay and intellectual disability, epilepsy, autism and psychiatric disorders which are all subject to incomplete penetrance and variable expressivity. A variety of brain MRI abnormalities were reported in patients with 16p11.2 rearrangements, but no systematic correlation has been studied among patients with similar brain anomalies, their neurodevelopmental and clinical phenotypes. We present three patients with the proximal 16p11.2 microduplication exhibiting significant developmental delay, anxiety disorder and other variable clinical features. Our patients have abnormal brain MRI findings of cerebral T2 hyperintense foci (3/3) and ventriculomegaly (2/3). The neuro-radiological or neurological findings in two cases prompted an extensive diagnostic work-up. One patient has exhibited neurological regression and progressive vision impairment and was diagnosed with juvenile neuronal ceroid-lipofuscinosis. We compare the clinical course and phenotype of these patients in regard to the clinical significance of the cerebral lesions and the need for MRI surveillance. We conclude that in all three patients the lesions were not progressive, did not show any sign of malignant transformation and could not be correlated to specific clinical features. We discuss potential etiologic mechanisms that may include overexpression of genes within the duplicated region involved in control of cell proliferation and complex molecular mechanisms such as the MAPK/ERK pathway. Systematic studies in larger cohorts are needed to confirm our observation and to establish the prevalence and clinical significance of these neuroanatomical abnormalities in patients with 16p11.2 duplications. (C) 2014 Wiley Periodicals, Inc.
C1 [Filges, Isabel] Univ British Columbia, Dept Med Genet, BC Childrens & Womens Hosp, Child & Family Res Inst, Vancouver, BC, Canada.
[Filges, Isabel] Univ Basel Hosp, Dept Biomed, Div Med Genet, CH-4031 Basel, Switzerland.
[Sparagana, Steven] Texas Scottish Rite Hosp Children, Dept Pediat Neurol, Dallas, TX 75219 USA.
[Sargent, Michael] Univ British Columbia, Dept Radiol, Vancouver, BC, Canada.
[Selby, Kathryn] Univ British Columbia, Dept Pediat, Div Pediat Neurol, Vancouver, BC V6T 1W5, Canada.
[Schlade-Bartusiak, Kamilla] Univ British Columbia, Dept Pathol & Lab Med, Child & Family Res Inst, Vancouver, BC V5Z 1M9, Canada.
[Lueder, Gregg T.] Washington Univ, Sch Med, Dept Ophthalmol & Visual Sci, St Louis, MO 63110 USA.
[Lueder, Gregg T.] Washington Univ, Sch Med, Dept Pediat, St Louis, MO 63110 USA.
[Robichaux-Viehoever, Amy; Schlaggar, Bradley L.] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA.
[Shimony, Joshua S.] Washington Univ, Sch Med, Edward Mallinckrodt Inst Radiol, St Louis, MO 63110 USA.
[Shinawi, Marwan] Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO 63110 USA.
RP Filges, I (reprint author), BC Childrens & Womens Hosp, Dept Med Genet, Box 153,4480 Oak St, Vancouver, BC V6H 3V4, Canada.
EM Isabel.Filges@unibas.ch
FU Swiss Foundation for Grants in Biology; Medicine/Swiss National Science
Foundation (SFGBM/SNSF); Freie Akademische Gesellschaft (FAG) Basel
FX Grant sponsor: Swiss Foundation for Grants in Biology; Grant sponsor:
Medicine/Swiss National Science Foundation (SFGBM/SNSF); Grant sponsor:
Freie Akademische Gesellschaft (FAG) Basel.
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NR 29
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD AUG
PY 2014
VL 164A
IS 8
BP 2003
EP 2012
DI 10.1002/ajmg.a.36605
PG 10
WC Genetics & Heredity
SC Genetics & Heredity
GA AN5YD
UT WOS:000340667900063
PM 24891046
ER
PT J
AU Joosten, AV
Safe, AP
AF Joosten, Annette V.
Safe, Anneleise P.
TI Management strategies of mothers of school-age children with autism:
Implications for practice
SO AUSTRALIAN OCCUPATIONAL THERAPY JOURNAL
LA English
DT Article
DE autism spectrum disorder; family-centred practice; mothers; research
related; self management; wellbeing
ID SELF-MANAGEMENT; CHRONIC ILLNESS; SOCIAL SUPPORT; MENTAL-HEALTH;
PARENTS; CARE; STRESS; IMPACT; PROFESSIONALS; PERSPECTIVES
AB Background/aim: Mothering children with autism results in mothers spending more time on daily tasks as well as managing the disorder. The need for mothers to self-manage often increases when the child is school aged. Mothers develop strategies, and occupational therapists and other health professional rely on or expect mothers to be involved in meeting the extra needs of their children with autism and other family members. Little is known about the strategies adopted by the mothers. The aim of this study was to explore the strategies mothers used to manage their roles and emotions, and their child's behaviours.
Method: In-depth individual interviews were conducted with seven mothers and data were analysed in this qualitative study using phenomenological analysis.
Results: Findings revealed that the mothers had adopted strategies to manage their roles, their emotions and their child's behaviour. However, the strategies were often shaped by the expectations of others or circumstances beyond their control and at times added further to their stress.
Conclusions: Mothers of children with autism developed strategies to self-manage their lives and their child's disorder. However, even when these strategies were effective, they sometimes placed further stress on the mothers. The mothers provided insights to how they coped but need help to consider the support they require and therapists need to consider the pressures of expecting mothers to self-manage their child's disorder, their own lives and their family. Family-centred practice emphasising collaboration with mothers needs to be maintained with school-aged children.
C1 [Joosten, Annette V.] Curtin Univ, Curtin Hlth Innovat Res Inst, Sch Occupat Therapy & Social Work, Perth, WA 6102, Australia.
[Safe, Anneleise P.] Ctr Cerebral Palsy, Therapy Serv, Perth, WA, Australia.
RP Joosten, AV (reprint author), Curtin Univ, Curtin Hlth Innovat Res Inst, Sch Occupat Therapy & Social Work, Perth, WA 6102, Australia.
EM a.joosten@curtin.edu.au
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NR 41
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0045-0766
EI 1440-1630
J9 AUST OCCUP THER J
JI Aust. Occup. Ther. J.
PD AUG
PY 2014
VL 61
IS 4
BP 249
EP 258
DI 10.1111/1440-1630.12116
PG 10
WC Rehabilitation
SC Rehabilitation
GA AO1UF
UT WOS:000341099700006
PM 24499184
ER
PT J
AU Geurts, HM
van den Bergh, SFWM
Ruzzano, L
AF Geurts, Hilde M.
van den Bergh, Sanne F. W. M.
Ruzzano, Laura
TI Prepotent Response Inhibition and Interference Control in Autism
Spectrum Disorders: Two Meta-Analyses
SO AUTISM RESEARCH
LA English
DT Article
DE ASD; autism; inhibition; interference; cognitive control; meta-analysis
ID HIGH-FUNCTIONING AUTISM; DEFICIT HYPERACTIVITY DISORDER; LATENT-VARIABLE
ANALYSIS; CHOICE REACTION-TIME; COGNITIVE CONTROL; EXECUTIVE FUNCTION;
NEURODEVELOPMENTAL DISORDERS; IMPAIRED COGNITION; WORKING-MEMORY;
STOP-SIGNAL
AB There is a substantial amount of data providing evidence for, but also against the hypothesis that individuals with autism spectrum disorders (ASD) encounter inhibitory control deficits. ASD is often associated with interference control deficits rather than prepotent response inhibition. Moreover, the developmental trajectory for these inhibitory control processes is hypothesized to differ in ASD as compared to typical development. In efforts to gain a more comprehensive perspective of inhibition in ASD, separate quantitative analysis for prepotent response inhibition studies and interference control studies were conducted. Together, these two meta-analyses included 41 studies with a combined sample size of 1,091 people with ASD (M age 14.8 years), and 1,306 typically developing (TD) controls (M age 13.8 years). The meta-analyses indicated that individuals with ASD show increased difficulties in prepotent response inhibition (effect size 0.55) and in interference control (effect size 0.31). In addition, age was a relevant moderator for prepotent response inhibition but not for interference control. Exploratory analyses revealed that when IQ was taken into account, heterogeneity considerably decreased among interference control studies but not among prepotent response inhibition. In contrast to the general belief, both prepotent response inhibition and interference control problems were observed in individuals with ASD. However, a large variation between studies was also found. Therefore, there remain factors beyond inhibition type, age, or IQ that significantly influence inhibitory control performance among individuals with ASD. (C) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Geurts, Hilde M.] Univ Amsterdam, Dept Psychol Brain & Cognit, NL-1018 XA Amsterdam, Netherlands.
[Geurts, Hilde M.; van den Bergh, Sanne F. W. M.; Ruzzano, Laura] Dr Leo Kannerhuis, Res & Dev, Ctr Autism, Amsterdam, Netherlands.
[Geurts, Hilde M.; van den Bergh, Sanne F. W. M.; Ruzzano, Laura] Dutch Autism & ADHD Res Ctr Arc, Amsterdam, Netherlands.
[Geurts, Hilde M.] Univ Amsterdam, Cognit Sci Ctr Amsterdam, NL-1018 XA Amsterdam, Netherlands.
RP Geurts, HM (reprint author), Univ Amsterdam, Dept Psychol, Dutch Autism & ADHD Res Ctr ARC, Weesperpl 4, NL-1018 XA Amsterdam, Netherlands.
EM H.M.Geurts@uva.nl
FU VIDI grant, Netherlands Organization for Scientific Research (NWO)
[452-10-003]
FX This work is part of the research program "Autism and Aging: A Double
Jeopardy, which is financed (VIDI grant number 452-10-003) by the
Netherlands Organization for Scientific Research (NWO). Dr. Geurts,
M.Sc. van den Bergh, and M.Sc. Ruzzano reported no biomedical financial
interests or potential conflicts of interest.
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NR 86
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD AUG
PY 2014
VL 7
IS 4
BP 407
EP 420
DI 10.1002/aur.1369
PG 14
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AN5VJ
UT WOS:000340659300001
PM 24596300
ER
PT J
AU Sparaci, L
Stefanini, S
D'Elia, L
Vicari, S
Rizzolatti, G
AF Sparaci, Laura
Stefanini, Silvia
D'Elia, Lidia
Vicari, Stefano
Rizzolatti, Giacomo
TI What and Why Understanding in Autism Spectrum Disorders and Williams
Syndrome: Similarities and Differences
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorders; Williams syndrome; social cognition; motor
skills
ID YOUNG-CHILDREN; NEURAL BASIS; MOTOR; INFANTS; HYPERSOCIABILITY;
INTENTIONS; DEFICIT; BRAIN; PERCEPTION; MECHANISMS
AB Children with autism spectrum disorders (ASD) and children with Williams syndrome (WS) show divergent social phenotypes, but also several similarities in their socio-cognitive deficits. Cross-syndrome direct comparisons could lead to a better understanding of mechanisms that determine deficits in social cognition in the two syndromes. A fundamental factor for social cognition is the ability to understand and predict others' actions (e. g. what action is being done and why it is being done when observing a goal-related act). Here we compared the understanding of others' actions in children with ASD, WS and in children with typical development. Comprehension of what motor act was being done and of why it was being done was assessed with or without contextual cueing using a computer-based task. The results showed that what understanding was impaired in the WS group, but not in the ASD group, which showed mental-age appropriate performance. Why understanding was impaired in both experimental groups. (C) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Sparaci, Laura; Stefanini, Silvia; Rizzolatti, Giacomo] Univ Parma, Dept Neurosci, I-43100 Parma, Italy.
[Sparaci, Laura] Natl Res Council CNR Italy, Inst Cognit Sci & Technol ISTC, I-00161 Rome, Italy.
[Sparaci, Laura; D'Elia, Lidia; Vicari, Stefano] Bambino Gesu Childrens Hosp IRCCS, Rome, Italy.
[Stefanini, Silvia] Local Hlth Unit AUSL, Dept Mental Hlth, Parma, Italy.
[Rizzolatti, Giacomo] Italian Inst Technol, Parma Unit, Brain Ctr Social & Motor Cognit, Parma, Italy.
RP Sparaci, L (reprint author), Natl Res Council CNR Italy, Inst Cognit Sci & Technol ISTC, Via Nomentana 56, I-00161 Rome, Italy.
EM laura.sparaci@istc.cnr.it
FU Fondazione Monte Parma; ERC Advanced Grant "Cogsystems" [250013];
Fondazione Handicap Dopodinoi, Onlus; MIUR-FIRB TOUM project
[RBFR086HEW]
FX The work reported in this paper was supported by: Fondazione Monte Parma
and ERC Advanced Grant "Cogsystems" (no. 250013) to G. R.; Fondazione
Handicap Dopodinoi, Onlus to S. V.; MIUR-FIRB TOUM project (no.
RBFR086HEW) to L. S. We are very grateful to the Italian Williams
Syndrome Association (AISW) as well as to the Primary and Secondary
Schools San Vitale-Fra' Salimbene Parma and San Francesco D'Assisi Rome
for helping us in this study. We wish to thank Dr Patrizio Pasqualetti
and Dr Pasquale Rinaldi for their help with statistical analyses. In
particular, we wish to thank all the children and families who have
participated in this research.
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NR 55
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD AUG
PY 2014
VL 7
IS 4
BP 421
EP 432
DI 10.1002/aur.1370
PG 12
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AN5VJ
UT WOS:000340659300002
PM 24604708
ER
PT J
AU Warner, G
Moss, J
Smith, P
Howlin, P
AF Warner, Georgina
Moss, Joanna
Smith, Patrick
Howlin, Patricia
TI Autism Characteristics and Behavioural Disturbances in similar to 500
Children with Down's Syndrome in England and Wales
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorder; Down's syndrome; social communication
questionnaire; strengths and difficulties questionnaire
ID FRAGILE-X-SYNDROME; SPECTRUM DISORDERS; DIFFICULTIES QUESTIONNAIRE;
PREVALENCE; DIAGNOSIS; STRENGTHS; CHECKLIST; VALIDITY; PROJECT
AB Recent research shows that a significant minority of children with Down's syndrome (DS) also meet diagnostic criteria for an autism spectrum disorder (ASD). The present study investigated what proportion of children aged 6-15 years with a confirmed diagnosis of DS in England and Wales display autistic-type behaviours, and explored the characteristics of this group of children. The Social Communication Questionnaire (SCQ) was used to screen for autism characteristics and the Strengths and Difficulties Questionnaire (SDQ) to explore behavioural difficulties. The proportion of children who met the cut-off score for ASD on the SCQ (total score >= 15) was 37.7% (95% CI: 33.4-42.0%); for autism (total score >= 22) the proportion was 16.5% (95% CI: 13.2-19.8%). Children who met the cut-off for ASD were significantly more likely to be reported as having emotional symptoms, conduct problems and hyperactivity on the SDQ than children who scored well below cut-off (total score < 10). However, the profile of their autism characteristics on the SCQ was atypical compared with individuals with idiopathic ASD. The pervasiveness of ASD in children with DS in England and Wales is substantially higher than in the general population. These children also experience significantly greater behavioural problems than children with DS only. Early detection of autism characteristics is important for appropriate intervention. However, the unusual profile of autism characteristics in this group may affect the recognition of the disorder and hinder the implementation of appropriate interventions. (C) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Warner, Georgina; Smith, Patrick; Howlin, Patricia] Kings Coll London, Inst Psychiat, Dept Psychol, London SE5 8AF, England.
[Moss, Joanna] Univ Birmingham, Sch Psychol, Cerebra Ctr Neurodev Disorders, Birmingham B15 2TT, W Midlands, England.
[Moss, Joanna] UCL, Inst Cognit Neurosci, London, England.
[Howlin, Patricia] Univ Sydney, Fac Hlth Sci, Sydney, NSW 2006, Australia.
RP Warner, G (reprint author), Kings Coll London, Inst Psychiat, Dept Psychol, London SE5 8AF, England.
EM georgina.warner@kcl.ac.uk
RI Moss, Jo/C-8812-2009
FU Baily Thomas Research Trust
FX We are grateful to the UK Down's Syndrome Association, and particularly
to Stuart Mills, for their help with participant recruitment, and to
Ellie Walsh and Jennie Cox for their help with the survey distribution,
as well as to all the families who participated in the study. This study
was funded by a PhD studentship from the Baily Thomas Research Trust.
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NR 33
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD AUG
PY 2014
VL 7
IS 4
BP 433
EP 441
DI 10.1002/aur.1371
PG 9
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AN5VJ
UT WOS:000340659300003
PM 24664986
ER
PT J
AU Murphy, JW
Foxe, JJ
Peters, JB
Molholm, S
AF Murphy, Jeremy W.
Foxe, John J.
Peters, Joanna B.
Molholm, Sophie
TI Susceptibility to Distraction in Autism Spectrum Disorder: Probing the
Integrity of Oscillatory Alpha-Band Suppression Mechanisms
SO AUTISM RESEARCH
LA English
DT Article
DE autism; EEG; oscillations; attention
ID SELECTIVE VISUAL-ATTENTION; EVENT-RELATED POTENTIALS; SPATIAL ATTENTION;
VISUOSPATIAL ATTENTION; INNER SPEECH; FUNCTIONAL CONNECTIVITY; CORTICAL
CONNECTIVITY; OCCIPITAL CORTEX; CHILDREN; EEG
AB When attention is directed to one information stream over another, the brain can be configured in advance to selectively process the relevant stream and suppress potentially distracting inputs. One key mechanism of suppression is through the deployment of anticipatory alpha-band (similar to 10 Hz) oscillatory activity, with greater alpha-band power observed in cortical regions that will ultimately process the distracting stream. Atypical attention has been implicated in autism spectrum disorder (ASD), including greater interference by distracting task-irrelevant inputs. Here we tested the integrity of these alpha-band mechanisms in ASD using an intersensory attention task. Electroencephalography (EEG) was recorded while participants were cued on a trial-by-trial basis to selectively deploy attention to the visual or auditory modality in anticipation of a target within the cued modality. Whereas typically developing (TD) children showed the predicted alpha-band modulation, with increased alpha-band power over parieto-occipital scalp when attention was deployed to the auditory compared with the visual modality, this differential pattern was entirely absent at the group level in the ASD cohort. Further, only the ASD group showed impaired performance due to the presence of task-irrelevant sensory information. These data suggest that impaired modulation of alpha-band activity plays a role in increased distraction from extraneous sensory inputs in ASD. (C) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Murphy, Jeremy W.; Foxe, John J.; Peters, Joanna B.; Molholm, Sophie] Albert Einstein Coll Med, Sheryl & Daniel R Tishman Cognit Neurophysiol Lab, Childrens Evaluat & Rehabil Ctr, Dept Pediat, Bronx, NY 10461 USA.
[Murphy, Jeremy W.; Foxe, John J.; Peters, Joanna B.; Molholm, Sophie] Albert Einstein Coll Med, Dept Neurosci, Bronx, NY 10461 USA.
[Murphy, Jeremy W.; Foxe, John J.; Molholm, Sophie] CUNY City Coll, Dept Psychol, Program Cognit Neurosci, New York, NY 10031 USA.
[Murphy, Jeremy W.; Foxe, John J.; Molholm, Sophie] CUNY City Coll, Dept Biol, Program Cognit Neurosci, New York, NY 10031 USA.
[Peters, Joanna B.] Yeshiva Univ, Ferkauf Grad Sch Psychol, Program Clin Psychol, Bronx, NY USA.
RP Molholm, S (reprint author), Albert Einstein Coll Med, Sheryl & Daniel R Tishman Cognit Neurophysiol Lab, Childrens Evaluat & Rehabil Ctr, Dept Pediat, Van Etten Bldg,Wing 1C,1225 Morris Pk Ave, Bronx, NY 10461 USA.
EM sophie.molholm@einstein.yu.edu
FU U.S. National Institute of Mental Health [MH085322]; Eunice Kennedy
Shriver National Institute of Child Health & Human Development [NICHD
P30 HD071593]
FX Primary funding for this work was provided by a grant from the U.S.
National Institute of Mental Health (MH085322 to S. M and J.J.F). The
Human Clinical Phenotyping Core, where the children enrolled in this
study were clinically evaluated, is a facility of the Rose F. Kennedy
Intellectual and Developmental Disabilities Research Center (IDDRC)
which is funded through a center grant from the Eunice Kennedy Shriver
National Institute of Child Health & Human Development (NICHD P30
HD071593).
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NR 83
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD AUG
PY 2014
VL 7
IS 4
BP 442
EP 458
DI 10.1002/aur.1374
PG 17
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AN5VJ
UT WOS:000340659300004
PM 24678054
ER
PT J
AU Smith, RM
Banks, W
Hansen, E
Sadee, W
Herman, GE
AF Smith, Ryan M.
Banks, Wesley
Hansen, Emily
Sadee, Wolfgang
Herman, Gail E.
TI Family-Based Clinical Associations and Functional Characterization of
the Serotonin 2A Receptor Gene (HTR2A) in Autism Spectrum Disorder
SO AUTISM RESEARCH
LA English
DT Article
DE autism; serotonin; gene expression; HTR2A; rs6311; monoamine
ID DIAGNOSTIC OBSERVATION SCHEDULE; GENOME-WIDE ASSOCIATION; COPY NUMBER
VARIATION; DE-NOVO MUTATIONS; 5-HT2A RECEPTOR; SYNAPTIC PATHOPHYSIOLOGY;
MESSENGER-RNA; COMMON; CHILDREN; POLYMORPHISMS
AB The serotonin 2A receptor gene (HTR2A) harbors two functional single nucleotide polymorphisms (SNPs) that are frequent in populations of African and European descent; rs6311, which affects mRNA expression, and rs6314, which changes the amino acid sequence of the encoded protein and affects the signaling properties of the receptor. Multiple clinical associations support a role for these SNPs in cognitive and neuropsychiatric phenotypes, although studies in autism spectrum disorder (ASD) remain equivocal. Here, we tested transmission disequilibrium of rs6311 and rs6314 in a cohort of 158 ASD trios (simplex and multiplex), observing significant under-transmission of the minor "A" allele of rs6311 to offspring with ASD (permuted P = 0.0004). Consistent with our previous findings in the dorsolateral prefrontal cortex of unaffected individuals, rs6311/A decreases expression of HTR2A mRNA with an extended 5' untranslated region (UTR) in the frontopolar cortex in brain samples from 54 ASD patients and controls. Interpreting the clinical results in the context of our mRNA expression analysis, we speculate that any risk associated with rs6311 is conferred by greater expression of the long 5' UTR mRNA isoform. The current study corroborates earlier associations between rs6311 and ASD in a family study, supporting the hypothesis that rs6311 plays a modulatory role in ASD risk. (C) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Smith, Ryan M.; Sadee, Wolfgang] Ohio State Univ, Dept Pharmacol, Coll Med, Ctr Pharmacogen, Columbus, OH 43210 USA.
[Banks, Wesley; Hansen, Emily; Herman, Gail E.] Ohio State Univ, Nationwide Childrens Hosp, Res Inst, Ctr Mol & Human Genet, Columbus, OH 43210 USA.
[Banks, Wesley; Hansen, Emily; Herman, Gail E.] Ohio State Univ, Dept Pediat, Columbus, OH 43210 USA.
[Sadee, Wolfgang] Ohio State Univ, Dept Pharm, Columbus, OH 43210 USA.
[Sadee, Wolfgang] Ohio State Univ, Dept Psychiat, Columbus, OH 43210 USA.
[Sadee, Wolfgang] Ohio State Univ, Dept Human Genet Internal Med, Columbus, OH 43210 USA.
[Sadee, Wolfgang] Ohio State Univ, Dept Environm Hlth Sci, Columbus, OH 43210 USA.
RP Smith, RM (reprint author), Ohio State Univ, Dept Pharmacol, 5184A Graves Hall,333 W10th Ave, Columbus, OH 43210 USA.
EM Ryan.Smith2@osumc.edu
FU National Institute of General Medical Sciences [U01GM092655]; United
States Air Force Department of Defense [FA7014-09-2-0004,
FA8650-12-2-6359]
FX The authors declare no competing interests. This work was supported by
the National Institute of General Medical Sciences (U01GM092655 to W.
S.) and the United States Air Force Department of Defense
(FA7014-09-2-0004 and FA8650-12-2-6359 to Gail E. Herman). We are
grateful to all the families participating in the CORA registry. We
thankfully acknowledge Harvard Brain Tissue Resource Center and the
NICHD Brain and Tissue Bank for providing brain tissues, granted to Ryan
M. Smith and Wolfgang Sadee from the Autism Tissue Program, made
possible by the donations of generous family members.
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NR 55
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD AUG
PY 2014
VL 7
IS 4
BP 459
EP 467
DI 10.1002/aur.1383
PG 9
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AN5VJ
UT WOS:000340659300005
PM 24753316
ER
PT J
AU McCormick, C
Hessl, D
Macari, SL
Ozonoff, S
Green, C
Rogers, SJ
AF McCormick, Carolyn
Hessl, David
Macari, Suzanne L.
Ozonoff, Sally
Green, Cherie
Rogers, Sally J.
TI Electrodermal and Behavioral Responses of Children With Autism Spectrum
Disorders to Sensory and Repetitive Stimuli
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorder; psychophysiology; sensory; repetitive
behaviors
ID DEVELOPMENTAL DELAYS; YOUNG-CHILDREN; MISSING DATA; INDIVIDUALS;
INTEGRATION; PATTERNS; MOTOR; AGE
AB Parents frequently report that their children with autism spectrum disorders (ASD) respond atypically to sensory stimuli. Repetitive behaviors are also part of the ASD behavioral profile. Abnormal physiological arousal may underlie both of these symptoms. Electrodermal activity (EDA) is an index of sympathetic nervous system arousal. The goals of this study were twofold: (1) to pilot methods for collecting EDA data in young children and (2) to examine hypothesized relationships among EDA, and sensory symptoms and repetitive behaviors in children with ASD as compared with children with typical development. EDA was recorded on 54 young children with ASD and on 33 children with typical development (TD) during a protocol that included baseline, exposure to sensory and repetitive stimuli, and play. Parents completed standardized questionnaires regarding their child's sensory symptoms and repetitive behaviors. Frequency and type of repetitive behavior during play was coded offline. Comparisons between EDA data for ASD and TD groups indicated no significant between-group differences in any measures. Parents of children with ASD reported more abnormal responses to sensory stimuli and more repetitive behaviors, but scores on these measures were not significantly correlated with EDA or with frequency of observed repetitive behaviors. Parent report of frequency and severity of sensory symptoms was significantly correlated with reports of repetitive behaviors in both groups. Although parents of children with ASD report high levels of sensory symptoms and repetitive behaviors, these differences are not related to measured EDA arousal or reactivity. (C) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [McCormick, Carolyn; Hessl, David; Ozonoff, Sally; Rogers, Sally J.] Univ Calif Davis, MIND Inst, Dept Psychiat & Behav Sci, Sacramento, CA 95817 USA.
[Macari, Suzanne L.] Yale Univ, Sch Med, Yale Child Study Ctr, New Haven, CT USA.
[Green, Cherie] La Trobe Univ, Olga Tennison Autism Res Ctr, Melbourne, Vic, Australia.
RP McCormick, C (reprint author), Univ Calif Davis, MIND Inst, 2825 50th St, Sacramento, CA 95817 USA.
EM carolyn.mccormick@ucdmc.ucdavis.edu
FU UC Davis MIND Institute
FX This research was conducted as part of the Autism Phenome Project and
supported by the UC Davis MIND Institute. We would like to acknowledge
Cynthia Zierhut, Lisa Cochran, Susan Rumberg, and Lou Ann Barnett for
their roles on the project, as well as Jennifer Bernstein and Olha
Kalish for help with coding. We want to thank all of the families who
made this research possible.
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NR 53
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD AUG
PY 2014
VL 7
IS 4
BP 468
EP 480
DI 10.1002/aur.1382
PG 13
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AN5VJ
UT WOS:000340659300006
PM 24788961
ER
PT J
AU Cook, R
Brewer, R
Shah, P
Bird, G
AF Cook, Richard
Brewer, Rebecca
Shah, Punit
Bird, Geoffrey
TI Intact Facial Adaptation in Autistic Adults
SO AUTISM RESEARCH
LA English
DT Article
DE autism; adaptation; aftereffects; facial identity; facial expressions
ID FACE RECOGNITION; SPECTRUM DISORDERS; CHILDREN; IDENTITY; EMOTION;
ALEXITHYMIA; EXPRESSIONS; PERCEPTION; FEATURES; 1ST
AB Adaptation paradigms seek to bias subsequently viewed stimuli through prolonged exposure to an adapting stimulus, thereby giving rise to an aftereffect. Recent experiments have found that children with autism spectrum disorders (ASD) show reduced facial aftereffects, prompting some researchers to speculate that all individuals with ASD exhibit deficient facial adaptation. However, caution is required when generalizing findings from samples of children with ASD to the wider ASD population. The reduced facial aftereffects seen in child samples may instead reflect delayed or atypical developmental trajectories, whereby individuals with ASD are slower to develop adaptive mechanisms. In the present study, two experiments were conducted to determine whether high-functioning adults with ASD also show diminished aftereffects for facial identity and expression. In Experiment 1, using a procedure that minimized the contribution of low-level retinotopic adaptation, we observed substantial aftereffects comparable to those seen in matched controls, for both facial identity and expression. A similar pattern of results was seen in Experiment 2 using a revised procedure that increased the contribution of retinotopic adaptation to the facial aftereffects observed. That adults with autism can show robust facial aftereffects raises the possibility that group differences are seen only at particular points during development, and may not be a lifelong feature of the condition. (C) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Cook, Richard] City Univ London, Dept Psychol, London EC1R OJD, England.
[Brewer, Rebecca; Shah, Punit; Bird, Geoffrey] Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London WC2R 2LS, England.
[Shah, Punit] Univ London, Birkbeck Coll, Dept Psychol Sci, London, England.
[Bird, Geoffrey] UCL, Inst Cognit Neurosci, London, England.
RP Cook, R (reprint author), City Univ London, Dept Psychol, Whiskin St, London EC1R OJD, England.
EM Richard.Cook.1@city.ac.uk
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NR 48
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD AUG
PY 2014
VL 7
IS 4
BP 481
EP 490
DI 10.1002/aur.1381
PG 10
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AN5VJ
UT WOS:000340659300007
PM 24757172
ER
PT J
AU Hauth, I
de Bruijn, YGE
Staal, W
Buitelaar, JK
Rommelse, NN
AF Hauth, Ingeborg
de Bruijn, Yvette G. E.
Staal, Wouter
Buitelaar, Jan K.
Rommelse, Nanda N.
TI Testing the Extreme Male Brain Theory of Autism Spectrum Disorder in a
Familial Design
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorder; extreme male brain theory; testosterone;
2D:4D; finger length; siblings; parents; empathizing; systemizing
ID 4TH DIGIT LENGTH; FETAL TESTOSTERONE; SEX-DIFFERENCES; DIAGNOSTIC
VALIDITY; RECEPTOR GENE; RATIO; CHILDREN; 2ND; TRAITS; HORMONE
AB Autism Spectrum Disorder (ASD) may be an extreme manifestation of some male-typical traits in both neuroanatomy and cognition. Using the ratio of the second to fourth digit (2D:4D) and digit length as biomarkers of (pre- and postnatal) testosterone levels, examined was whether hypermasculinized digit ratios and/or lengths were familial traits in ASD and investigated their relation to sexually dimorphic cognitive abilities. 2D: 4D ratios and digit lengths of 216 children with ASD, 202 unaffected siblings, and 360 parents were compared with those of 174 control children and their 146 parents. Generalized Estimation Equations, Generalized Linear Models, and Linear Mixed Models were used to investigate parent-offspring relationships and group differences. In ASD probands and their relatives alike, digit length relative to overall height was significantly increased in comparison to controls. No significant group differences were found between affected and unaffected subjects, or between males and females. Additionally, 2D: 4D ratios increased with age. No (consistent) associations were found between 2D: 4D ratio or digit lengths and systemizing and empathizing skills. The findings emphasize the role of familially based elevated pre- and postnatal testosterone levels in the liability for ASD, but challenge the use of 2D: 4D ratio as a proxy of prenatal testosterone exposure solely. Given that many genes influence digit length, the exact mechanisms underlying a familial predisposition toward increased digit length in ASD are as yet unknown and needs to be explored in future studies. (C) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Hauth, Ingeborg; Staal, Wouter; Buitelaar, Jan K.] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain, Cognit & Behav Dept Cognit Neurosci, NL-6525 GC Nijmegen, Netherlands.
[de Bruijn, Yvette G. E.; Staal, Wouter; Buitelaar, Jan K.; Rommelse, Nanda N.] Child & Adolescent Psychiat Univ Ctr, Karakter, Nijmegen, Netherlands.
[Rommelse, Nanda N.] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain, Cognit & Behav Dept Psychiat, NL-6525 GC Nijmegen, Netherlands.
RP Rommelse, NN (reprint author), Radboud Univ Nijmegen, Med Ctr, Reinier Postlaan 12, NL-6525 GC Nijmegen, Netherlands.
EM n.lambregts-rommelse@psy.umcn.nl
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NR 44
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD AUG
PY 2014
VL 7
IS 4
BP 491
EP 500
DI 10.1002/aur.1384
PG 10
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AN5VJ
UT WOS:000340659300008
PM 24777834
ER
PT J
AU Kang, V
Wagner, GC
Ming, X
AF Kang, Victor
Wagner, George C.
Ming, Xue
TI Gastrointestinal Dysfunction in Children With Autism Spectrum Disorders
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorders; gastrointestinal disorders; comorbid
disorders; endoscopy; colonoscopy; inflammation
ID SYMPTOMS; ABNORMALITIES; POPULATION; PREVALENCE; DISEASE; ASDS
AB Gastrointestinal (GI) dysfunctions are frequently reported by parents of children with autism spectrum disorders (ASD) and have been recently recognized as a comorbid condition. However, the clinical significance of these GI dysfunctions remains to be delineated. This study describes the clinical characteristics, associated comorbid disorders, and endoscopic and colonoscopic evaluation of GI dysfunction in a cohort of 164 children with ASD evaluated at a pediatric neurology practice. Symptoms of GI dysfunction were prevalent: 49% of the children reported one or more chronic GI complaints, 22% exhibited diarrhea, 26% suffered from constipation. Furthermore 13% of the parents reported their children to suffer from bloating and/or being gassy and while 10% of the parents reported vomiting or gastroesophageal reflux problems. Similar rates of GI symptoms were reported among pre-school and school-aged children. Inflammation of the gut was found in 6 of the 12 subjects who underwent endoscopic and colonoscopic evaluations, however clinical symptoms did not predict the results of the evaluation. GI dysfunction was significantly associated with sleep disorders and food intolerance, but not with irritability or aggressiveness. In summary, GI dysfunction was prevalent in this cohort of children with ASD, observations consistent with the reports of parents and other clinicians. We conclude that the GI dysfunction in ASD requires proper evaluation and treatment. (C) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Kang, Victor] Johns Hopkin Univ, Sch Arts & Sci, Baltimore, MD USA.
[Wagner, George C.] Rutgers State Univ, Dept Psychol, New Brunswick, NJ 08903 USA.
[Ming, Xue] Rutgers State Univ, New Jersey Med Sch, Dept Neurosci, Newark, NJ 07103 USA.
[Ming, Xue] JFK Med Ctr, New Jersey Neurosci Inst, Sleep Med Ctr, Edison, NJ USA.
RP Ming, X (reprint author), Rutgers State Univ, New Jersey Med Sch, 90 Bergen St,DOC 8100, Newark, NJ 07103 USA.
EM mingxu@njms.rutgers.edu
FU Knights of Columbus, East Hanover, NJ
FX The authors wish to acknowledge the cooperation of all the parents and
guardians of the participating subjects with ASD and the generous
support from Knights of Columbus, East Hanover, NJ. All authors declare
no conflict of interest in this study and approve this final version of
the revised manuscript.
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NR 19
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD AUG
PY 2014
VL 7
IS 4
BP 501
EP 506
DI 10.1002/aur.1386
PG 6
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AN5VJ
UT WOS:000340659300009
PM 24753336
ER
PT J
AU Segers, M
Rawana, J
AF Segers, Magali
Rawana, Jennine
TI What Do We Know About Suicidality in Autism Spectrum Disorders? A
Systematic Review
SO AUTISM RESEARCH
LA English
DT Review
DE autism spectrum disorders; suicide; suicidality; prevalence; risk
factors; protective factors
ID PERVASIVE DEVELOPMENTAL DISORDERS; HIGH-FUNCTIONING AUTISM; DIAGNOSTIC
INTERVIEW; SELF-HARM; ASPERGERS-DISORDER; ADOLESCENTS; CHILDREN; RISK;
DEPRESSION; QUOTIENT
AB Suicidality is a common and concerning issue across development, and there is a plethora of research on this topic among typically developing children and youth. Very little is known, however, about the nature of suicidality among individuals with autism spectrum disorders (ASDs). The purpose of the current study was to undertake a systematic literature review to assess the current state of the research literature to examine the prevalence of suicidality among individuals with ASD, related demographic and clinical profiles, and associated risk and protective factors. A literature search using key terms related to suicidality and ASD yielded 10 topical studies that were evaluated for the study objectives. Suicidality was present in 10.9-50% of the ASD samples identified in the systematic review. Further, several large-scale studies found that individuals with ASD comprised 7.3-15% of suicidal populations, a substantial subgroup. Risk factors were identified and included peer victimization, behavioral problems, being Black or Hispanic, being male, lower socioeconomic status, and lower level of education. Only one study reported on protective factors, and this is identified as a significant gap in the literature. Several methodological weaknesses were present in the current literature, such as lack of appropriate comparison groups and little to no use of empirically validated measures for ASD diagnosis and suicide assessment. Additional research is necessary to understand better how this unique population experiences and expresses suicidal tendencies. Recommendations for future research are discussed. (C) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Segers, Magali; Rawana, Jennine] York Univ, Dept Psychol, Toronto, ON M3J 1P3, Canada.
RP Rawana, J (reprint author), York Univ, 131 Behav Sci Bldg,4700 Keele St, Toronto, ON M3J 1P3, Canada.
EM rawana@yorku.ca
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NR 80
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD AUG
PY 2014
VL 7
IS 4
BP 507
EP 521
DI 10.1002/aur.1375
PG 15
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AN5VJ
UT WOS:000340659300010
PM 24798640
ER
PT J
AU Gentile, S
AF Gentile, Salvatore
TI Risks of neurobehavioral teratogenicity associated with prenatal
exposure to valproate monotherapy: a systematic review with regulatory
repercussions
SO CNS SPECTRUMS
LA English
DT Review
DE neurobehavioral teratogenicity; pregnancy; valproate
ID ANTIEPILEPTIC DRUG EXPOSURE; AUTISM SPECTRUM DISORDERS; SCHOOL-AGED
CHILDREN; IN-UTERO EXPOSURE; BIPOLAR DISORDER; MOOD STABILIZERS;
PSYCHOLOGICAL-DEVELOPMENT; EPILEPTIC PARENTS; SODIUM VALPROATE;
PREGNANCY
AB Beyond its formal indications (epilepsy, bipolar disorder, and migraine), valproate sodium (VPA) is widely used in a number of other clinical conditions. Recently, however, the U. S. Food and Drug Administration (FDA) issued a warning regarding a decrease in IQ scores in children prenatally exposed to the drug. For patients with migraine, the pregnancy labeling of VPA will be changed from Category "D'' to "X.'' VPA products will remain in pregnancy category "D'' for treating epilepsy and manic episodes associated with bipolar disorder. Thus, this article aims to assess (through a computerized Medline/PubMed search) the neurobehavioral teratogenicity of valproate monotherapy, in order to evaluate alternative regulatory decisions. Reviewed information suggests a detrimental impact of antenatal valproate exposure on the global child neurodevelopment. Affected areas include not just reduced IQ scores, but also behavioral problems and a potential increase in the risk for a future diagnosis of attention-deficit/ hyperactivity disorder. An increased risk of developing autism-spectrum disorders has also been reported. Thus, in my opinion, VPA should be assigned definitively to the Category "X,'' independent of any considerations about its clinical indications, and should be strictly avoided during pregnancy, due to the demonstrated risk of both neurobehavioral and neurocognitive teratogenicity.
C1 [Gentile, Salvatore] ASL Salerno, Mental Hlth Ctr, Dept Mental Hlth, Salerno, Italy.
[Gentile, Salvatore] Univ Naples Federico II, Med Sch Federico II, Dept Neurosci, Naples, Italy.
RP Gentile, S (reprint author), ASL Salerno, Mental Hlth Ctr, Dept Mental Hlth, 63 Cava Tirreni Vietri Mare,Piazza Galdi, Salerno, Italy.
EM salvatore_gentile@alice.i
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NR 64
TC 1
Z9 1
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 1092-8529
EI 2165-6509
J9 CNS SPECTRUMS
JI CNS Spectr.
PD AUG
PY 2014
VL 19
IS 4
BP 305
EP 315
DI 10.1017/S1092852913000990
PG 11
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AN9RD
UT WOS:000340944500004
PM 24571806
ER
PT J
AU Blockus, H
Chedotal, A
AF Blockus, Heike
Chedotal, Alain
TI The multifaceted roles of Slits and Robos in cortical circuits: from
proliferation to axon guidance and neurological diseases
SO CURRENT OPINION IN NEUROBIOLOGY
LA English
DT Article
ID F-BAR DOMAIN; NEURONAL MIGRATION; INTERNEURON MIGRATION; THALAMIC
PROJECTIONS; MAMMALIAN FOREBRAIN; CORPUS-CALLOSUM; CEREBRAL-CORTEX;
MIDLINE; EXPRESSION; RECEPTORS
AB Slit repulsion, mediated by Robe receptors, is known to play a major role in axon guidance in the nervous system. However, recent studies have revealed that in the mammalian cortex these molecules are highly versatile and that their function extends far beyond axon guidance. They act at all phases of development to control neurogenesis, neuronal migration, axon patterning, dendritic outgrowth and spinogenesis. The expression of Robe receptors in cortical and thalamocortical axons (TCAs) is tightly regulated by a combination of transcription factors (TFs), proteases and activity. These findings also suggest that Slit and Robes have influenced the evolution of cortical circuits. Last, novel genetic evidence associates various neurological disorders, such as autism, to abnormal Slit/Robo signaling.
C1 [Blockus, Heike; Chedotal, Alain] INSERM, UMR S968, Inst Vis, F-75012 Paris, France.
[Blockus, Heike; Chedotal, Alain] Univ Paris 06, Sorbonne Univ, UMR S968, Inst Vis, F-75012 Paris, France.
[Blockus, Heike; Chedotal, Alain] CNRS, UMR7210, F-75012 Paris, France.
RP Chedotal, A (reprint author), INSERM, UMR S968, Inst Vis, F-75012 Paris, France.
EM alain.chedotal@inserm.fr
FU Fondation pour la recherche Medicale (Programme equipe FRM); Labex
Lifesciences; Ecole des Neurosciences de Paris Ile-de-France (ENP); DIM
Cerveau Pensee
FX A.C. is supported by grants from the Fondation pour la recherche
Medicale (Programme equipe FRM) and the Labex Lifesciences. H.B. is a
recipient of the ENP Graduate Program fellowship from Ecole des
Neurosciences de Paris Ile-de-France (ENP) and DIM Cerveau & Pensee.
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NR 47
TC 5
Z9 5
PU CURRENT BIOLOGY LTD
PI LONDON
PA 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND
SN 0959-4388
EI 1873-6882
J9 CURR OPIN NEUROBIOL
JI Curr. Opin. Neurobiol.
PD AUG
PY 2014
VL 27
BP 82
EP 88
DI 10.1016/j.conb.2014.03.003
PG 7
WC Neurosciences
SC Neurosciences & Neurology
GA AO3HN
UT WOS:000341220400013
PM 24698714
ER
PT J
AU Ackerman, S
Wenegrat, J
Rettew, D
Althoff, R
Bernier, R
AF Ackerman, Sean
Wenegrat, Julia
Rettew, David
Althoff, Robert
Bernier, Raphael
TI No increase in autism-associated genetic events in children conceived by
assisted reproduction
SO FERTILITY AND STERILITY
LA English
DT Article
DE Assisted reproduction; assisted reproductive technology; autism; copy
number variation
ID IN-VITRO FERTILIZATION; INTRACYTOPLASMIC SPERM INJECTION;
LOW-BIRTH-WEIGHT; SPECTRUM DISORDERS; INCREASED RISK; HEALTH OUTCOMES;
PRETERM BIRTH; FOLLOW-UP; TECHNOLOGY; BORN
AB Objective: To understand the rate of genetic events in patients with autism spectrum disorder (ASD) who were exposed to assisted reproduction.
Design: Case control study using genetics data.
Setting: Twelve collaborating data collection sites across North America as part of the Simons Simplex Collection.
Patient(s): 2,760 children with ASD, for whom 1,994 had published copy number variation data and 424 had published gene mutation status available.
Intervention(s): None.
Main Outcome Measure(s): Rates of autism-associated genetic events in children with ASD conceived with assisted reproduction versus those conceived naturally.
Result(s): No statistically significant differences in copy number variations or autism-associated gene-disrupting events were found when comparing ASD patients exposed to assisted reproduction with those not exposed to assisted reproduction.
Conclusion(s): This is the first large genetic association to concurrently examine the genotype of individuals with ASD in relation to their exposure to ART versus natural conception, and it adds reassuring evidence to the argument that ART does not increase the risk of ASD. ((C)2014 by American Society for Reproductive Medicine.)
C1 [Ackerman, Sean; Rettew, David; Althoff, Robert] Univ Vermont, Sch Med, Dept Psychiat, Burlington, VT 05401 USA.
[Wenegrat, Julia; Bernier, Raphael] Univ Washington, Sch Med, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA.
RP Ackerman, S (reprint author), Univ Vermont, Fletcher Allen Hlth Care, 111 Colchester Ave,MS 341BA1, Burlington, VT 05401 USA.
EM sean.ackerman@vtmednet.org
FU Simons Foundation Autism Research Initiative
FX Funded by the Simons Foundation Autism Research Initiative.
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NR 44
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0015-0282
EI 1556-5653
J9 FERTIL STERIL
JI Fertil. Steril.
PD AUG
PY 2014
VL 102
IS 2
BP 388
EP 393
DI 10.1016/j.fertnstert.2014.04.020
PG 6
WC Obstetrics & Gynecology; Reproductive Biology
SC Obstetrics & Gynecology; Reproductive Biology
GA AO4HX
UT WOS:000341299000015
PM 24842673
ER
PT J
AU Batey, CA
Missiuna, CA
Timmons, BW
Hay, JA
Faught, BE
Cairney, J
AF Batey, C. A.
Missiuna, C. A.
Timmons, B. W.
Hay, J. A.
Faught, B. E.
Cairney, J.
TI Self-efficacy toward physical activity and the physical activity
behavior of children with and without Developmental Coordination
Disorder
SO HUMAN MOVEMENT SCIENCE
LA English
DT Article
DE Developmental Coordination Disorder; Self-efficacy; Physical activity;
Developmental disorders and autism
ID DEFICIT HYPERACTIVITY DISORDER; ACTIVITY ENERGY-EXPENDITURE; MOVEMENT
ASSESSMENT BATTERY; ADOLESCENTS; MOTOR; RISK; PERCEPTIONS; HYPOTHESIS;
CLUMSINESS; FITNESS
AB Purpose: Affecting 5-6% of children, Developmental Coordination Disorder (DCD) is a prevalent chronic condition. The nature of the disorder - impaired motor coordination - makes avoidance of physical activity (PA) common. The purpose of this study was to examine the effect of barrier and task self-efficacy on PA behavior in children with DCD and a group of typically developing (TD) children.
Methods: Children were compared on their perceived ability to complete different intensities and duration of PA (task efficacy) and their confidence in completing PA when faced with everyday barriers (barrier efficacy). An accelerometer was used to record their activity over the subsequent week.
Results: Children with DCD were found to have significantly lower task efficacy and barrier efficacy. They also spent significantly less time in moderate to vigorous physical activity (MVPA). Multivariate analyses revealed that gender modified the relationship for both groups. Separate multivariate regressions, were therefore conducted by gender. A direct effect of DCD on PA was observed for boys, but not for girls. Further analyses showed that neither task efficacy nor barrier efficacy influenced the relationship between DCD and PA.
Conclusion: Results from this study confirm that children with DCD have lower task and barrier self-efficacy than TD children and that males have lower PA levels than their TD peers; however neither task or barrier self-efficacy mediated the relationship between DCD and PA. (C) 2013 Published by Elsevier B.V.
C1 [Batey, C. A.; Missiuna, C. A.; Timmons, B. W.; Cairney, J.] McMaster Univ, Fac Hlth Sci, Hamilton, ON L8S 4K1, Canada.
[Hay, J. A.; Faught, B. E.] Brock Univ, Fac Appl Hlth Sci, St Catharines, ON L2S 3A1, Canada.
RP Cairney, J (reprint author), Dept Family Med, 175 Longwood Rd South, Hamilton, ON L8P 0A1, Canada.
EM cairnej@mcmaster.ca
FU Canadian Institutes of Health Research [66959]; Department of Family
Medicine at McMaster University
FX This study was supported by the Canadian Institutes of Health Research
(Grant #: 66959). Dr. Cairney is supported through an endowed
professorship in the Department of Family Medicine at McMaster
University. The Physical Health Activity Study Team (PHAST) appreciates
the commitment by children, parents and teachers from the District
School Board of Niagara. Laboratory and home-based assessment would not
have been successful without the diligent efforts of the PHAST research
coordinator, Nadilein Mahlberg. Finally, thanks to Joyce Obeid for all
of her hard work and help with analyzing the accelerometer data.
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NR 48
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0167-9457
EI 1872-7646
J9 HUM MOVEMENT SCI
JI Hum. Mov. Sci.
PD AUG
PY 2014
VL 36
BP 258
EP 271
DI 10.1016/j.humov.2013.10.003
PG 14
WC Neurosciences; Psychology; Psychology, Experimental; Sport Sciences
SC Neurosciences & Neurology; Psychology; Sport Sciences
GA AO4XW
UT WOS:000341345700021
PM 24345354
ER
PT J
AU Aresti-Bartolome, N
Garcia-Zapirain, B
AF Aresti-Bartolome, Nuria
Garcia-Zapirain, Begonya
TI Technologies as Support Tools for Persons with Autistic Spectrum
Disorder: A Systematic Review
SO INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
LA English
DT Review
DE ASD; tools for therapy; robots; telehealth systems; dedicated
applications; virtual reality applications
ID HIGH-FUNCTIONING AUTISM; VIRTUAL-REALITY; SOCIAL-SKILLS; YOUNG-CHILDREN;
TELEHEALTH SYSTEM; ASPERGER-SYNDROME; PROBLEM BEHAVIOR; MIXED REALITY;
ADOLESCENTS; ADULTS
AB This study analyzes the technologies most widely used to work on areas affected by the Autistic Spectrum Disorder (ASD). Technologies can focus on the strengths and weaknesses of this disorder as they make it possible to create controlled environments, reducing the anxiety produced by real social situations. Extensive research has proven the efficiency of technologies as support tools for therapy and their acceptation by ASD sufferers and the people who are with them on a daily basis. This article is organized by the types of systems developed: virtual reality applications, telehealth systems, social robots and dedicated applications, all of which are classified by the areas they center on: communication, social learning and imitation skills and other ASD-associated conditions. 40.5% of the research conducted is found to be focused on communication as opposed to 37.8% focused on learning and social imitation skills and 21.6% which underlines problems associated with this disorder. Although most of the studies reveal how useful these tools are in therapy, they are generic tools for ASD sufferers in general, which means there is a lack of personalised tools to meet each person's needs.
C1 [Aresti-Bartolome, Nuria; Garcia-Zapirain, Begonya] Univ Deusto, DeustoTech LIFE Unit, DeustoTech Inst Technol, Bilbao 48007, Spain.
RP Aresti-Bartolome, N (reprint author), Univ Deusto, DeustoTech LIFE Unit, DeustoTech Inst Technol, Avda Univ 24, Bilbao 48007, Spain.
EM nuria.aresti@deusto.es; mbgarciazapi@deusto.es
RI Garcia-Zapirain, Begona/L-5619-2014
OI Garcia-Zapirain, Begona/0000-0002-9356-1186
FU Regional Council of Bizkaia, the Basque Country Department of Education,
Universities and Research
FX This work was partially supported by the Regional Council of Bizkaia,
the Basque Country Department of Education, Universities and Research.
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NR 113
TC 0
Z9 1
PU MDPI AG
PI BASEL
PA POSTFACH, CH-4005 BASEL, SWITZERLAND
SN 1660-4601
J9 INT J ENV RES PUB HE
JI Int. J. Environ. Res. Public Health
PD AUG
PY 2014
VL 11
IS 8
BP 7767
EP 7802
DI 10.3390/ijerph110807767
PG 36
WC Environmental Sciences
SC Environmental Sciences & Ecology
GA AO1UX
UT WOS:000341101700015
PM 25093654
ER
PT J
AU Rahbar, MH
Samms-Vaughan, M
Ma, JZ
Bressler, J
Loveland, KA
Ardjomand-Hessabi, M
Dickerson, AS
Grove, ML
Shakespeare-Pellington, S
Beecher, C
McLaughlin, W
Boerwinkle, E
AF Rahbar, Mohammad H.
Samms-Vaughan, Maureen
Ma, Jianzhong
Bressler, Jan
Loveland, Katherine A.
Ardjomand-Hessabi, Manouchehr
Dickerson, Aisha S.
Grove, Megan L.
Shakespeare-Pellington, Sydonnie
Beecher, Compton
McLaughlin, Wayne
Boerwinkle, Eric
TI Role of Metabolic Genes in Blood Arsenic Concentrations of Jamaican
Children with and without Autism Spectrum Disorder
SO INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
LA English
DT Article
DE arsenic; autism spectrum disorder (ASD); glutathione S-transferase (GST)
genes; detoxification; interactions
ID GLUTATHIONE S-TRANSFERASES; OXIDATIVE STRESS; DRINKING-WATER; CHILDHOOD
AUTISM; DNA METHYLATION; MERCURY LEVELS; SKIN-LESIONS; EXPOSURE;
POLYMORPHISMS; RISK
AB Arsenic is a toxic metalloid with known adverse effects on human health. Glutathione-S-transferase (GST) genes, including GSTT1, GSTP1, and GSTM1, play a major role in detoxification and metabolism of xenobiotics. We investigated the association between GST genotypes and whole blood arsenic concentrations (BASC) in Jamaican children with and without autism spectrum disorder (ASD). We used data from 100 ASD cases and their 1: 1 age- and sex-matched typically developing (TD) controls (age 2-8 years) from Jamaica. Using log-transformed BASC as the dependent variable in a General Linear Model, we observed a significant interaction between GSTP1 and ASD case status while controlling for several confounding variables. However, for GSTT1 and GSTM1 we did not observe any significant associations with BASC. Our findings indicate that TD children who had the Ile/Ile or Ile/Val genotype for GSTP1 had a significantly higher geometric mean BASC than those with genotype Val/Val (3.67 mu g/L vs. 2.69 mu g/L, p < 0.01). Although, among the ASD cases, this difference was not statistically significant, the direction of the observed difference was consistent with that of the TD control children. These findings suggest a possible role of GSTP1 in the detoxification of arsenic.
C1 [Rahbar, Mohammad H.; Boerwinkle, Eric] Univ Texas Sch Publ Hlth Houston, Div Epidemiol Human Genet & Environm Sci EHGES, Houston, TX 77030 USA.
[Rahbar, Mohammad H.; Ma, Jianzhong] Univ Texas Hlth Sci Ctr Houston, Div Clin & Translat Sci, Dept Internal Med, Sch Med, Houston, TX 77030 USA.
[Rahbar, Mohammad H.; Ardjomand-Hessabi, Manouchehr; Dickerson, Aisha S.] Univ Texas Hlth Sci Ctr Houston, CCTS, Houston, TX 77030 USA.
[Samms-Vaughan, Maureen; Shakespeare-Pellington, Sydonnie] Univ W Indies, Dept Child & Adolescent Hlth, Kingston 7, Jamaica.
[Bressler, Jan; Grove, Megan L.; Boerwinkle, Eric] Univ Texas Sch Publ Hlth Houston, Ctr Human Genet, Houston, TX 77030 USA.
[Loveland, Katherine A.] Univ Texas Med Sch Houston, Dept Psychiat & Behav Sci, Houston, TX 77054 USA.
[Beecher, Compton; McLaughlin, Wayne] Univ W Indies, Dept Basic Med Sci, Kingston 7, Jamaica.
[McLaughlin, Wayne] Univ W Indies, Caribbean Genet CARIGEN, Kingston 7, Jamaica.
RP Rahbar, MH (reprint author), Univ Texas Sch Publ Hlth Houston, Div Epidemiol Human Genet & Environm Sci EHGES, Houston, TX 77030 USA.
EM Mohammad.H.Rahbar@uth.tmc.edu; msammsvaughan@gmail.com;
Jianzhong.Ma@uth.tmc.edu; Jan.Bressler@uth.tmc.edu;
Katherine.A.Loveland@uth.tmc.edu; Manouchehr.A.Hessabi@uth.tmc.edu;
Aisha.S.Dickerson@uth.tmc.edu; Megan.L.Grove@uth.tmc.edu;
sydonniesp@gmail.com; compton.beecher@uwimona.edu.jm;
wayne.mclaughlin@uwimona.edu.jm; Eric.Boerwinkle@uth.tmc.edu
FU Eunice Kennedy Shriver National Institute of Child Health and Human
Development (NICHD); National Institutes of Health Fogarty International
Center (NIH-FIC) [R21HD057808]; National Institute of Environmental
Health Sciences (NIEHS) [R01ES022165];
Biostatistics/Epidemiology/Research Design (BERD) component of the
Center for Clinical and Translational Sciences (CCTS); NIH Centers for
Translational Science Award (NIH CTSA) [UL1 RR024148]; National Center
for Research Resources (NCRR) [UL1 TR000371]; National Center for
Advancing Translational Sciences (NCATS)
FX This research is co-funded by the Eunice Kennedy Shriver National
Institute of Child Health and Human Development (NICHD) and the National
Institutes of Health Fogarty International Center (NIH-FIC) by a grant
(R21HD057808) as well as National Institute of Environmental Health
Sciences (NIEHS) by a grant (R01ES022165) awarded to University of Texas
Health Science Center at Houston. We also acknowledge the support
provided by the Biostatistics/Epidemiology/Research Design (BERD)
component of the Center for Clinical and Translational Sciences (CCTS)
for this project. CCTS is mainly funded by the NIH Centers for
Translational Science Award (NIH CTSA) grant (UL1 RR024148), awarded to
University of Texas Health Science Center at Houston in 2006 by the
National Center for Research Resources (NCRR) and its renewal (UL1
TR000371) by the National Center for Advancing Translational Sciences
(NCATS). The content is solely the responsibility of the authors and
does not necessarily represent the official views of the NICHD or the
NIH-FIC or NIEHS or the NCRR or the NCATS.
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NR 77
TC 3
Z9 3
PU MDPI AG
PI BASEL
PA POSTFACH, CH-4005 BASEL, SWITZERLAND
SN 1660-4601
J9 INT J ENV RES PUB HE
JI Int. J. Environ. Res. Public Health
PD AUG
PY 2014
VL 11
IS 8
BP 7874
EP 7895
DI 10.3390/ijerph110807874
PG 22
WC Environmental Sciences
SC Environmental Sciences & Ecology
GA AO1UX
UT WOS:000341101700021
PM 25101770
ER
PT J
AU Bennett, CC
Sabanovic, S
AF Bennett, Casey C.
Sabanovic, Selma
TI Deriving Minimal Features for Human-Like Facial Expressions in Robotic
Faces
SO INTERNATIONAL JOURNAL OF SOCIAL ROBOTICS
LA English
DT Article
DE Human-robot interaction; Facial expression; Emotion; Minimalist design;
Robot design
ID RECOGNITION; EMOTION; BEHAVIOR; PERCEPTION; AUTISM; REAL
AB This study explores deriving minimal features for a robotic face to convey information (via facial expressions) that people can perceive and understand. Recent research in computer vision has shown that a small number of moving points/lines can be used to capture the majority of information (95 %) in human facial expressions. Here, we apply such findings to a minimalist robot face design, which was run through a series of experiments with human subjects (n = 75) exploring the effect of various factors, including added neck motion and degree of expression. Facial expression identification rates were similar to more complex robots. In addition, added neck motion significantly improved facial expression identification rates to 100 % for all expressions (except Fear). The Negative Attitudes towards Robots (NARS) and Godspeed scales were also collected to examine user perceptions, e.g. perceived animacy and intelligence. The project aims to answer a number of fundamental questions about robotic face design, as well as to develop inexpensive and replicable robotic faces for experimental purposes.
C1 [Bennett, Casey C.; Sabanovic, Selma] Indiana Univ, Sch Informat & Comp, Bloomington, IN 47408 USA.
[Bennett, Casey C.] Centerstone Res Inst, Dept Informat, Bloomington, IN 47401 USA.
RP Bennett, CC (reprint author), Centerstone Res Inst, Dept Informat, 365 South Pk Ridge Rd, Bloomington, IN 47401 USA.
EM cabennet@indiana.edu
FU Indiana University's School of Informatics and Computing
FX The authors would like to thank Amyra Asamoah, Kay Jessee, and Matthew
R. Francisco for their assistance in performing this research. Funding
was provided by Indiana University's School of Informatics and
Computing.
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NR 71
TC 1
Z9 1
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 1875-4791
EI 1875-4805
J9 INT J SOC ROBOT
JI Int. J. Soc. Robot.
PD AUG
PY 2014
VL 6
IS 3
SI SI
BP 367
EP 381
DI 10.1007/s12369-014-0237-z
PG 15
WC Robotics
SC Robotics
GA AN3NW
UT WOS:000340496200006
ER
PT J
AU Robins, B
Dautenhahn, K
AF Robins, Ben
Dautenhahn, Kerstin
TI Tactile Interactions with a Humanoid Robot: Novel Play Scenario
Implementations with Children with Autism
SO INTERNATIONAL JOURNAL OF SOCIAL ROBOTICS
LA English
DT Article
DE Robot-assisted play; Assistive technology; Human-robot interaction;
Autism therapy
ID ASSISTED PLAY
AB The work presented in this paper was part of our investigation in the ROBOSKIN project. The project has developed new robot capabilities based on the tactile feedback provided by novel robotic skin, with the aim to provide cognitive mechanisms to improve human-robot interaction capabilities. This article presents two novel tactile play scenarios developed for robot-assisted play for children with autism. The play scenarios were developed against specific educational and therapeutic objectives that were discussed with teachers and therapists. These objectives were classified with reference to the ICF-CY, the International Classification of Functioning-version for Children and Youth. The article presents a detailed description of the play scenarios, and case study examples of their implementation in HRI studies with children with autism and the humanoid robot KASPAR.
C1 [Robins, Ben; Dautenhahn, Kerstin] Univ Hertfordshire, Sch Comp Sci, Adapt Syst Res Grp, Hatfield AL10 9AB, Herts, England.
RP Robins, B (reprint author), Univ Hertfordshire, Sch Comp Sci, Adapt Syst Res Grp, Hatfield AL10 9AB, Herts, England.
EM b.robins@herts.ac.uk; K.Dautenhahn@herts.ac.uk
FU European Commission [FP7-231500-ROBOSKIN]
FX This work has been partially supported by the European Commission under
contract number FP7-231500-ROBOSKIN
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NR 51
TC 1
Z9 1
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 1875-4791
EI 1875-4805
J9 INT J SOC ROBOT
JI Int. J. Soc. Robot.
PD AUG
PY 2014
VL 6
IS 3
SI SI
BP 397
EP 415
DI 10.1007/s12369-014-0228-0
PG 19
WC Robotics
SC Robotics
GA AN3NW
UT WOS:000340496200008
ER
PT J
AU Wolbring, G
Yumakulov, S
AF Wolbring, Gregor
Yumakulov, Sophya
TI Social Robots: Views of Staff of a Disability Service Organization
SO INTERNATIONAL JOURNAL OF SOCIAL ROBOTICS
LA English
DT Article
DE Disabled people; People with disabilities; Disability service
organization; Perception of social robots
ID AUTISM SPECTRUM DISORDERS; CHILDREN; THERAPY; DESIGN; CARE; MACHINES;
BEHAVIOR
AB Social robotics is an emerging field, with many applications envisioned for people with disabilities. This project examined the so far invisible views of disability service organization workers towards social robotics. Because community service workers' views shape community-based rehabilitation (an area of health interventions that focuses on social determinants), it is important to examine their views towards social robotics applications which are largely developed under a clinical/medical view of disability. We administered a survey to employees of a Saskatchewan disability service organization. Out of 44 respondents, 80 % were female, most aged 21-65 years. Robotics applications perceived to be important included domestic robots, and rehabilitation robots. Least important applications included eldercare robots, companion robots, and pet robots. Most participants felt that robots cannot replace human touch, human interaction, or emotional companionship, and that they cannot/should not replace human workers in the disability setting. Many expressed concerns about safety, normality for disabled people, and artificial interactions. Respondents also had views on whether a social robot can be a bully or could be bullied. We submit that the perspectives our respondents exhibited might be useful to consider in the development of social robots for applications around disability in order to ensure acceptable and relevant products.
C1 [Wolbring, Gregor; Yumakulov, Sophya] Univ Calgary, Dept Community Hlth Sci, Calgary, AB, Canada.
RP Wolbring, G (reprint author), Univ Calgary, Dept Community Hlth Sci, Calgary, AB, Canada.
EM gwolbrin@ucalgary.ca; syumakul@ucalgary.ca
FU Faculty of Medicine, University of Calgary
FX This work was in part supported by a Bridge funding grant of GW from the
Faculty of Medicine, University of Calgary; we would like to thank the
University of Calgary for paying for the Springer open access option
through their open access fund.
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NR 73
TC 0
Z9 0
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 1875-4791
EI 1875-4805
J9 INT J SOC ROBOT
JI Int. J. Soc. Robot.
PD AUG
PY 2014
VL 6
IS 3
SI SI
BP 457
EP 468
DI 10.1007/s12369-014-0229-z
PG 12
WC Robotics
SC Robotics
GA AN3NW
UT WOS:000340496200012
ER
PT J
AU Shattuck, PT
Roux, AM
AF Shattuck, Paul T.
Roux, Anne M.
TI Autism Moving Toward an Innovation and Investment Mindset
SO JAMA PEDIATRICS
LA English
DT Editorial Material
ID SPECTRUM DISORDER; YOUNG-ADULTS; EMPLOYMENT
C1 [Shattuck, Paul T.; Roux, Anne M.] Drexel Univ, AJ Drexel Autism Inst, Philadelphia, PA 19104 USA.
RP Shattuck, PT (reprint author), Drexel Univ, AJ Drexel Autism Inst, 3020 Market St,Ste 560, Philadelphia, PA 19104 USA.
EM ptshattuck@drexel.edu
CR Association of Maternal & Child Health Programs ( AMCHP), THE LIFE COURSE METR
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US Department of Education Office of Special Education Programs, PART B SPP APR RELAT
US Department of Health and Human Services Health Resources and Services Administration Maternal and Child Health Bureau, 2010, THE LIFE COURSE MODE
NR 11
TC 1
Z9 1
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA
SN 2168-6203
EI 2168-6211
J9 JAMA PEDIATR
JI JAMA Pediatr.
PD AUG
PY 2014
VL 168
IS 8
BP 698
EP 699
DI 10.1001/jamapediatrics.2014.585
PG 2
WC Pediatrics
SC Pediatrics
GA AN0TZ
UT WOS:000340298200004
PM 24911611
ER
PT J
AU Buescher, AVS
Cidav, Z
Knapp, M
Mandell, DS
AF Buescher, Ariane V. S.
Cidav, Zuleyha
Knapp, Martin
Mandell, David S.
TI Costs of Autism Spectrum Disorders in the United Kingdom and the United
States
SO JAMA PEDIATRICS
LA English
DT Article
ID HEALTH-CARE UTILIZATION; PSYCHIATRIC-HOSPITALIZATION; CHILDREN;
EXPENDITURES; EMPLOYMENT; SERVICE; UK; EXPERIENCES; ADULTS; HOME
AB IMPORTANCE The economic effect of autism spectrum disorders (ASDs) on individuals with the disorder, their families, and society as a whole is poorly understood and has not been updated in light of recent findings.
OBJECTIVE To update estimates of age-specific, direct, indirect, and lifetime societal economic costs, including new findings on indirect costs, such as individual and parental productivity costs, associated with ASDs.
DESIGN, SETTING, AND PARTICIPANTS A literature review was conducted of US and UK studies on individuals with ASDs and their families in October 2013 using the following keywords: age, autism spectrum disorder, prevalence, accommodation, special education, productivity loss, employment, costs, and economics. Current data on prevalence, level of functioning, and place of residence were combined with mean annual costs of services and support, opportunity costs, and productivity losses of individuals with ASDs with or without intellectual disability.
EXPOSURE Presence of ASDs.
MAIN OUTCOMES AND MEASURES Mean annual medical, nonmedical, and indirect economic costs and lifetime costs were measured for individuals with ASDs separately for individuals with and without intellectual disability in the United States and the United Kingdom.
RESULTS The cost of supporting an individual with an ASD and intellectual disability during his or her lifespan was $2.4 million in the United States and 1.5 pound million (US $2.2 million) in the United Kingdom. The cost of supporting an individual with an ASD without intellectual disability was $1.4 million in the United States and 0.92 pound million (US $1.4 million) in the United Kingdom. The largest cost components for children were special education services and parental productivity loss. During adulthood, residential care or supportive living accommodation and individual productivity loss contributed the highest costs. Medical costs were much higher for adults than for children.
CONCLUSIONS AND RELEVANCE The substantial direct and indirect economic effect of ASDs emphasizes the need to continue to search for effective interventions that make best use of scarce societal resources. The distribution of economic effect across many different service systems raises questions about coordination of services and sectors. The enormous effect on families also warrants policy attention.
C1 [Buescher, Ariane V. S.; Knapp, Martin] Univ London London Sch Econ & Polit Sci, Personal Social Serv Res Unit, London WC2A 2AE, England.
[Cidav, Zuleyha; Mandell, David S.] Univ Penn, Ctr Mental Hlth Policy & Serv Res, Perelman Sch Med, Philadelphia, PA 19104 USA.
[Cidav, Zuleyha; Mandell, David S.] Childrens Hosp Philadelphia, Ctr ASD Res, Philadelphia, PA 19104 USA.
RP Mandell, DS (reprint author), Univ Penn, Ctr Mental Hlth Policy & Serv Res, 3535 Market St, Philadelphia, PA 19104 USA.
EM mandelld@upenn.edu
RI Mandell, David/H-2730-2012
OI Mandell, David/0000-0001-8240-820X
FU Autism Speaks; Steve Shirley Foundation
FX This study was funded by Autism Speaks. Estimates for the United Kingdom
were built on previous research funded by the Steve Shirley Foundation.
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NR 47
TC 15
Z9 16
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA
SN 2168-6203
EI 2168-6211
J9 JAMA PEDIATR
JI JAMA Pediatr.
PD AUG
PY 2014
VL 168
IS 8
BP 721
EP 728
DI 10.1001/jamapediatrics.2014.210
PG 8
WC Pediatrics
SC Pediatrics
GA AN0TZ
UT WOS:000340298200011
PM 24911948
ER
PT J
AU Millard, H
McLaren, JL
Coffey, BJ
AF Millard, Hun
McLaren, Jennifer L.
Coffey, Barbara J.
TI Lurasidone Treatment in a Child with Autism Spectrum Disorder with
Irritability and Aggression
SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY
LA English
DT Article
C1 [Millard, Hun; McLaren, Jennifer L.] Geisel Sch Med Dartmouth, Dept Psychiat, Lebanon, NH USA.
[Coffey, Barbara J.] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA.
RP Coffey, BJ (reprint author), Icahn Sch Med Mt Sinai, One Gustave L Levy Pl,Box 1230, New York, NY 10029 USA.
EM Barbara.coffey@mssm.edu
FU Boehringer Ingelheim; Bristol-Myers; Eli Lilly Pharmaceutical; National
Institute of Mental Health (NIMH); National Institute of Neurological
Disorders and Stroke (NINDS); Otsuka; Pfizer; Shire; Tourette Syndrome
Association
FX Drs. Millard and McLaren have no conflicts of interest or financial ties
to disclose. Dr. Coffey has received research support from Boehringer
Ingelheim, Bristol-Myers, Eli Lilly Pharmaceutical, National Institute
of Mental Health (NIMH), National Institute of Neurological Disorders
and Stroke (NINDS), Otsuka, Pfizer, Shire, and Tourette Syndrome
Association.
CR Baribeau DA, 2014, CURR PSYCHIAT REP, V16, DOI 10.1007/s11920-014-0437-0
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Stahl SM, 2013, STAHLS ESSENTIAL PSY
NR 4
TC 0
Z9 0
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1044-5463
EI 1557-8992
J9 J CHILD ADOL PSYCHOP
JI J. Child Adolesc. Psychopharmacol.
PD AUG
PY 2014
VL 24
IS 6
BP 354
EP 356
DI 10.1089/cap.2014.2462
PG 3
WC Pediatrics; Pharmacology & Pharmacy; Psychiatry
SC Pediatrics; Pharmacology & Pharmacy; Psychiatry
GA AN7ZW
UT WOS:000340820700009
ER
PT J
AU Maloney, A
Mick, EO
Frazier, J
AF Maloney, Ann
Mick, Eric O.
Frazier, Jean
TI Aripiprazole Decreases Irritability in 12 out of 14 Youth with Autism
Spectrum Disorders
SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY
LA English
DT Letter
ID PERVASIVE DEVELOPMENTAL DISORDERS; BEHAVIORAL SYMPTOMS; DOUBLE-BLIND;
CHILDREN; HALOPERIDOL; RISPERIDONE; PLACEBO; DESIGN
C1 [Maloney, Ann; Mick, Eric O.; Frazier, Jean] UMASS Med Sch, Dept Psychiat, Worcester, MA USA.
RP Maloney, A (reprint author), Univ Massachusetts, Dept Psychiat, Sch Med, 55 Lake Ave North, Worcester, MA 01566 USA.
EM Ann.Maloney@umassmed.edu
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NR 15
TC 0
Z9 0
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1044-5463
EI 1557-8992
J9 J CHILD ADOL PSYCHOP
JI J. Child Adolesc. Psychopharmacol.
PD AUG
PY 2014
VL 24
IS 6
BP 357
EP 359
DI 10.1089/cap.2013.0143
PG 3
WC Pediatrics; Pharmacology & Pharmacy; Psychiatry
SC Pediatrics; Pharmacology & Pharmacy; Psychiatry
GA AN7ZW
UT WOS:000340820700010
PM 24828130
ER
PT J
AU Otsuka, Y
Mareschal, I
Calder, AJ
Clifford, CWG
AF Otsuka, Yumiko
Mareschal, Isabelle
Calder, Andrew J.
Clifford, Colin W. G.
TI Dual-Route Model of the Effect of Head Orientation on Perceived Gaze
Direction
SO JOURNAL OF EXPERIMENTAL PSYCHOLOGY-HUMAN PERCEPTION AND PERFORMANCE
LA English
DT Article
DE gaze perception; cue combination; head orientation; Wollaston effect;
dual-route model
ID UNIQUE MORPHOLOGY; TEMPORAL CORTEX; EYE DIRECTION; PERCEPTION; LOOKING;
AUTISM; JUDGMENT; FACE; ACCURACY; CHILDREN
AB Previous studies on gaze perception have identified 2 opposing effects of head orientation on perceived gaze direction-1 repulsive and the other attractive. However, the relationship between these 2 effects has remained unclear. By using a gaze categorization task, the current study examined the effect of head orientation on the perceived direction of gaze in a whole-head condition and an eye-region condition. We found that the perceived direction of gaze was generally biased in the opposite direction to head orientation (a repulsive effect). Importantly, the magnitude of the repulsive effect was more pronounced in the eye-region condition than in the whole-head condition. Based on these findings, we developed a dual-route model, which proposes that the 2 opposing effects of head orientation occur through 2 distinct routes. In the framework of this dual-route model, we explain and reconcile the findings from previous studies, and provide a functional account of attractive and repulsive effects and their interaction.
C1 [Otsuka, Yumiko; Clifford, Colin W. G.] Univ Sydney, Sch Psychol, Sydney, NSW 2006, Australia.
[Mareschal, Isabelle] Univ Sydney, Sydney, NSW 2006, Australia.
[Mareschal, Isabelle] Queen Mary Univ London, Dept Psychol, Sch Chem & Biol Sci, London, England.
[Calder, Andrew J.] MRC Cognit & Brain Sci Unit, Cambridge, England.
[Clifford, Colin W. G.] Univ Sydney, Australian Ctr Excellence Vis Sci, Sydney, NSW 2006, Australia.
RP Otsuka, Y (reprint author), Univ New S Wales, Sch Psychol, Mathews Bldg, Sydney, NSW 2052, Australia.
EM yumikoot@gmail.com
RI Otsuka, Yumiko/J-5628-2014
FU Australian Research Council [DP120102589]; Medical Research Council,
United Kingdom [MC_US_A060_5PQ50]
FX This work is supported by Australian Research Council Discovery Project
[DP120102589] to Colin Clifford and Andrew Calder; Colin Clifford is
supported by an Australian Research Council Future Fellowship; Andrew
Calder is supported by the Medical Research Council, United Kingdom
[grant ref. MC_US_A060_5PQ50].
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World Medical Association, 2008, DECL HELS ETH PRINC
NR 37
TC 2
Z9 2
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0096-1523
EI 1939-1277
J9 J EXP PSYCHOL HUMAN
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IS 4
BP 1425
EP 1439
DI 10.1037/a0036151
PG 15
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AU Rojas, DC
AF Rojas, Donald C.
TI The role of glutamate and its receptors in autism and the use of
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SO JOURNAL OF NEURAL TRANSMISSION
LA English
DT Review
DE Autism; mGluR; AMPA; NMDA; Kainate; Proton spectroscopy; Serum glutamate
ID FRAGILE-X-SYNDROME; MAGNETIC-RESONANCE-SPECTROSCOPY; PERVASIVE
DEVELOPMENTAL DISORDERS; TUBEROUS SCLEROSIS COMPLEX; ENCODING
NEUROLIGINS NLGN3; FAMILY-BASED ASSOCIATION; PLACEBO-CONTROLLED TRIAL;
GROWTH-FACTOR-I; SPECTRUM DISORDERS; MENTAL-RETARDATION
AB Glutamate is the major excitatory neurotransmitter in the brain and may be a key neurotransmitter involved in autism. Literature pertaining to glutamate and autism or related disorders (e.g., Fragile X syndrome) is reviewed in this article. Interest in glutamatergic dysfunction in autism is high due to increasing convergent evidence implicating the system in the disorder from peripheral biomarkers, neuroimaging, protein expression, genetics and animal models. Currently, there are no pharmaceutical interventions approved for autism that address glutamate deficits in the disorder. New treatments related to glutamatergic neurotransmission, however, are emerging. In addition, older glutamate-modulating medications with approved indications for use in other disorders are being investigated for re-tasking as treatments for autism. This review presents evidence in support of glutamate abnormalities in autism and the potential for translation into new treatments for the disorder.
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RP Rojas, DC (reprint author), Colorado State Univ, Dept Psychol, Campus Delivery 1876, Ft Collins, CO 80523 USA.
EM don.rojas@colostate.edu
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Whiteside SP, 2006, PSYCHIAT RES-NEUROIM, V146, P137, DOI 10.1016/j.psychresns.2005.12.006
Yan J, 2008, NEUROSCI LETT, V438, P368, DOI 10.1016/j.neulet.2008.04.074
Yan QJ, 2005, NEUROPHARMACOLOGY, V49, P1053, DOI 10.1016/j.neuropharm.2005.06.004
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NR 157
TC 0
Z9 0
PU SPRINGER WIEN
PI WIEN
PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
JI J. Neural Transm.
PD AUG
PY 2014
VL 121
IS 8
SI SI
BP 891
EP 905
DI 10.1007/s00702-014-1216-0
PG 15
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AN6BU
UT WOS:000340679500008
PM 24752754
ER
PT J
AU Rutkowski, EM
Brimer, D
AF Rutkowski, Elaine M.
Brimer, Debbie
TI Physical Education Issues for Students With Autism: School Nurse
Challenges
SO JOURNAL OF SCHOOL NURSING
LA English
DT Article
DE autism spectrum disorder (ASD); Individualized Education Plan (IEP);
physical education (PE)
ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; ASPERGERS-DISORDER; MOTOR;
CHILDREN; PREVALENCE
AB Extant studies indicate persons with autism have difficulties in social interaction, verbal and nonverbal communication, repetitive behaviors, and poor ability to generalize learned skills. Obesity has also been identified as significantly affecting children with autism spectrum disorders (ASD). Negative experience in physical education (PE) may be the antecedent behavior to lack of activities that are mediators to sedentary lifestyles and contributors to the chronic illnesses associated with overweight and obesity. Students with ASD often cannot perform required activities to meet required PE standards. It is imperative school nurses be aware of the many challenges students with ASD bring into a PE class. School nurses provide education for the members of the school community, including the Individualized Education Plan team, regarding the need for attention to limitations, including physical activity, of students with ASD.
C1 [Rutkowski, Elaine M.] Calif State Univ Fullerton, Fullerton, CA 92834 USA.
[Brimer, Debbie] Antelope Valley Union High Sch Dist, Lancaster, CA USA.
RP Rutkowski, EM (reprint author), Calif State Univ Fullerton, POB 6868, Fullerton, CA 92834 USA.
EM erutkowski@fullerton.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Bejerot S, 2011, ACTA PAEDIATR, V100, P413, DOI 10.1111/j.1651-2227.2010.02016.x
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Blumberg SJ, 2013, NATL HLTH STAT REPOR
Cade M, 2001, J Sch Health, V71, P96
Centers for Disease Control and Prevention, 2012, MORBIDITY MORTALITY
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NR 32
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1059-8405
EI 1546-8364
J9 J SCH NURS
JI J. Sch. Nurs.
PD AUG
PY 2014
VL 30
IS 4
BP 256
EP 261
DI 10.1177/1059840513503686
PG 6
WC Nursing
SC Nursing
GA AN6QE
UT WOS:000340719800004
PM 24014552
ER
PT J
AU Chiu, YN
Chou, MC
Lee, JC
Wong, CC
Chou, WJ
Wu, YY
Chien, YL
Gau, SSF
AF Chiu, Yen-Nan
Chou, Miao-Chun
Lee, Ju-Chin
Wong, Ching-Ching
Chou, Wen-Jiun
Wu, Yu-Yu
Chien, Yi-Ling
Gau, Susan Shur-Fen
TI Determinants of maternal satisfaction with diagnosis disclosure of
autism
SO JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
LA English
DT Article
DE autism; disclosure; informed counseling; mothers; satisfaction
ID SEVERE MENTAL HANDICAP; DOWNS-SYNDROME; SPECTRUM DISORDER; PARENTING
STYLE; 1ST INFORMATION; CHILDREN; DISABILITY; FAMILIES; COMMUNICATION;
PROFESSIONALS
AB Background/Purpose: Diagnosis disclosure is an important clinical issue in developmental disabilities, which may influence parents' ability to cope with their child's conditions. This paper presents the content and patterns of diagnosis-informed counseling for mothers of children with autism and investigates the determinants for maternal satisfaction with this counseling, in order to improve clinical practice.
Methods: Mothers of 151 children, aged 3-12 years, with DSM-IV autistic disorder, confirmed by the Chinese version of the Autism Diagnostic Interview-Revised, were assessed. We collected information about the mothers' experience with diagnosis-informed counseling, their personality characteristics, and the extent to which they were satisfied with the counseling.
Results: Satisfaction with diagnosis-informed counseling was related more to the context of the counseling, including the attitude of the counselors and the timing and duration of counseling, than to its content. Parents' social desirability, educational level, and employment status were negatively associated with their satisfaction with counseling. However, immediate emotion, neuroticism, and extroversion did not have a significant effect on the satisfaction with counseling. Approximately 60% of the mothers preferred to be informed of having an autistic child after the diagnosis had been confirmed.
Conclusion: Our findings suggest that more efforts are needed to improve the quality of diagnosis-informed counseling in autism, particularly in the context of breaking the news to mothers of children with autism. Future study could further examine the moderating effect of diagnostic subtype of autism spectrum disorders, treatment response, or social support on maternal satisfaction with diagnosis-informed counseling (ClinicalTrials.gov number, NCT00494754). Copyright (C) 2012, Elsevier Taiwan LLC & Formosan Medical Association. All rights reserved.
C1 [Chiu, Yen-Nan; Chien, Yi-Ling; Gau, Susan Shur-Fen] Natl Taiwan Univ Hosp, Dept Psychiat, Taipei 10002, Taiwan.
[Chiu, Yen-Nan; Chien, Yi-Ling; Gau, Susan Shur-Fen] Coll Med, Taipei, Taiwan.
[Chou, Miao-Chun; Chou, Wen-Jiun] Kaohsiung Chang Gung Mem Hosp, Dept Child & Adolescent Psychiat, Kaohsiung, Taiwan.
[Chou, Miao-Chun; Chou, Wen-Jiun] Chang Gung Univ, Coll Med, Kaohsiung, Taiwan.
[Lee, Ju-Chin] Wan Fang Hosp, Dept Psychiat, Taipei, Taiwan.
[Wong, Ching-Ching] Taipei City Hosp, Branch Women & Children, Taipei Child Assessment & Early Intervent Ctr, Taipei, Taiwan.
[Wu, Yu-Yu] Chang Gung Mem Hosp, Dept Child Psychiat, Linkou Med Ctr, Taoyuan, Taiwan.
RP Chien, YL (reprint author), Natl Taiwan Univ Hosp, Dept Psychiat, 7 Chung Shan South Rd, Taipei 10002, Taiwan.
EM ylchien@hotmail.com
FU National Science Council (gs1), Taiwan [NSC96-3112-B-002-033,
NSC97-3112-B-002-009, N5C98-3112-B-002-004]
FX This work was supported by grants from the National Science Council
(gs1) (NSC96-3112-B-002-033; NSC96-3112-B-002-033; NSC97-3112-B-002-009;
N5C98-3112-B-002-004), Taiwan.
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NR 41
TC 0
Z9 0
PU ELSEVIER TAIWAN
PI TAIPEI
PA RM N-412, 4F, CHIA HSIN BUILDING 11, NO 96, ZHONG SHAN N ROAD SEC 2,
TAIPEI, 10449, TAIWAN
SN 0929-6646
J9 J FORMOS MED ASSOC
JI J. Formos. Med. Assoc.
PD AUG
PY 2014
VL 113
IS 8
BP 540
EP 548
DI 10.1016/j.jfma.2012.07.040
PG 9
WC Medicine, General & Internal
SC General & Internal Medicine
GA AO1HF
UT WOS:000341062500009
PM 25037759
ER
PT J
AU Wolf, EJ
Mitchell, KS
Logue, MW
Baldwin, CT
Reardon, AF
Aiello, A
Galea, S
Koenen, KC
Uddin, M
Wildman, D
Miller, MW
AF Wolf, Erika J.
Mitchell, Karen S.
Logue, Mark W.
Baldwin, Clinton T.
Reardon, Annemarie F.
Aiello, Alison
Galea, Sandro
Koenen, Karestan C.
Uddin, Monica
Wildman, Derek
Miller, Mark W.
TI The Dopamine D-3 Receptor Gene and Posttraumatic Stress Disorder
SO JOURNAL OF TRAUMATIC STRESS
LA English
DT Article
ID MULTILOCUS GENOTYPE DATA; NICOTINE DEPENDENCE; NUCLEUS-ACCUMBENS; MAJOR
DEPRESSION; SEX-DIFFERENCES; SCHIZOPHRENIA; D3; ASSOCIATION; DRD3;
POPULATION
AB The dopamine D-3 receptor (DRD3) gene has been implicated in schizophrenia, autism, and substance use-disorders and is related to emotion reactivity, executive functioning, and stress-responding, processes impaired in posttraumatic stress disorder (PTSD). The aim of this candidate gene study was to evaluate DRD3 polymorphisms for association with PTSD. The discovery sample was trauma-exposed White, non-Hispanic U.S. veterans and their trauma-exposed intimate partners (N = 491); 60.3% met criteria for lifetime PTSD. The replication sample was 601 trauma-exposed African American participants living in Detroit, Michigan; 23.6% met criteria for lifetime PTSD. Genotyping was based on high-density bead chips. In the discovery sample, 4 single nucleotide polymorphisms (SNPs), rs2134655, rs201252087, rs4646996, and rs9868039, showed evidence of association with PTSD and withstood correction for multiple testing. The minor alleles were associated with reduced risk for PTSD (OR range= 0.59 to 0.69). In the replication sample, rs2251177, located 149 base pairs away from the most significant SNP in the discovery sample, was nominally associated with PTSD in men (OR = 0.32). Although the precise role of the D3 receptor in PTSD is not yet known, its role in executive functioning and emotional reactivity, and the sensitivity of the dopamine system to environmental stressors could potentially explain this association.
C1 [Wolf, Erika J.; Mitchell, Karen S.; Reardon, Annemarie F.; Miller, Mark W.] VA Boston Healthcare Syst, Natl Ctr PTSD, Boston, MA USA.
[Wolf, Erika J.; Mitchell, Karen S.; Miller, Mark W.] Boston Univ, Sch Med, Dept Psychiat, Boston, MA 02118 USA.
[Logue, Mark W.; Baldwin, Clinton T.] Boston Univ, Sch Med, Boston, MA 02118 USA.
[Logue, Mark W.] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA USA.
[Baldwin, Clinton T.] Boston Univ, Sch Med, Ctr Human Genet, Boston, MA 02118 USA.
[Aiello, Alison] Univ Michigan, Sch Publ Hlth, Dept Epidemiol, Ann Arbor, MI 48109 USA.
[Galea, Sandro; Koenen, Karestan C.] Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY USA.
[Uddin, Monica; Wildman, Derek] Wayne State Univ, Sch Med, Ctr Mol Med & Genet, Detroit, MI USA.
[Uddin, Monica] Wayne State Univ, Sch Med, Dept Psychiat & Behav Neurosci, Detroit, MI USA.
RP Miller, MW (reprint author), 150 South Huntington Ave 116B-2, Boston, MA 02130 USA.
EM Mark.Miller5@va.gov
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NR 68
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0894-9867
EI 1573-6598
J9 J TRAUMA STRESS
JI J. Trauma Stress
PD AUG
PY 2014
VL 27
IS 4
BP 379
EP 387
DI 10.1002/jts.21937
PG 9
WC Psychology, Clinical; Psychiatry
SC Psychology; Psychiatry
GA AO2ZQ
UT WOS:000341198000001
PM 25158632
ER
PT J
AU Rouse, CA
Alber-Morgan, SR
Cullen, JM
Sawyer, M
AF Rouse, Christina A.
Alber-Morgan, Sheila R.
Cullen, Jennifer M.
Sawyer, Mary
TI Using Prompt Fading to Teach Self-Questioning to Fifth Graders with LD:
Effects on Reading Comprehension
SO LEARNING DISABILITIES RESEARCH & PRACTICE
LA English
DT Article
ID LEARNING-DISABILITIES; STUDENTS; STRATEGY; INSTRUCTION; TEXT; KNOWLEDGE;
AUTISM
AB Students with LD who struggle with reading comprehension can benefit from instruction on how to read strategically. One strategy that has been demonstrated to increase reading comprehension is self-questioning. In this study, two fifth graders with LD were taught to self-generate questions using a prompt fading procedure. The participants were provided with expository reading passages with embedded questions. As each participant demonstrated proficiency with answering the embedded questions correctly, the embedded questions were systematically faded and replaced with a prompt for the students to generate their own questions. A multiple baseline across participants design demonstrated that the self-questioning intervention resulted in improvements in reading comprehension for both students. Additionally, the students demonstrated evidence of maintenance and generalization of reading comprehension outcomes.
C1 [Rouse, Christina A.; Alber-Morgan, Sheila R.; Sawyer, Mary] Ohio State Univ, Columbus, OH 43210 USA.
[Cullen, Jennifer M.] Ball State Univ, Muncie, IN 47306 USA.
RP Alber-Morgan, SR (reprint author), Ohio State Univ, Columbus, OH 43210 USA.
EM Morgan.651@osu.edu
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NR 28
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0938-8982
EI 1540-5826
J9 LEARN DISABIL RES PR
PD AUG
PY 2014
VL 29
IS 3
BP 117
EP 125
DI 10.1111/ldrp.12036
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AN6CB
UT WOS:000340680200006
ER
PT J
AU Isshiki, M
Tanaka, S
Kuriu, T
Tabuchi, K
Takumi, T
Okabe, S
AF Isshiki, Masaaki
Tanaka, Shinji
Kuriu, Toshihiko
Tabuchi, Katsuhiko
Takumi, Toru
Okabe, Shigeo
TI Enhanced synapse remodelling as a common phenotype in mouse models of
autism
SO NATURE COMMUNICATIONS
LA English
DT Article
ID FRAGILE-X MICE; LONG-TERM; DENDRITIC SPINES; SOMATOSENSORY CORTEX;
CRANIAL WINDOW; THALAMOCORTICAL SYNAPSES; POSTSYNAPTIC DENSITY;
INHIBITORY SYNAPSES; PYRAMIDAL NEURONS; FRONTAL-CORTEX
AB Developmental deficits in neuronal connectivity are considered to be present in patients with autism spectrum disorders (ASDs). Here we examine this possibility by using in vivo spine imaging in the early postnatal cortex of ASD mouse models. Spines are classified by the presence of either the excitatory postsynaptic marker PSD-95 or the inhibitory postsynaptic marker gephyrin. ASD mouse models show consistent upregulation in the dynamics of PSD-95-positive spines, which may subsequently contribute to stable synaptic connectivity. In contrast, spines receiving inputs from the thalamus, detected by the presence of gephyrin clusters, are larger, highly stable and unaffected in ASD mouse models. Importantly, two distinct mouse models, human 15q11-13 duplication and neuroligin-3 R451C point mutation, show highly similar phenotypes in spine dynamics. This selective impairment in dynamics of PSD-95-positive spines receiving intracortical projections may be a core component of early pathological changes and be a potential target of early intervention.
C1 [Isshiki, Masaaki; Tanaka, Shinji; Okabe, Shigeo] Univ Tokyo, Grad Sch Med, Dept Cellular Neurobiol, Bunkyo Ku, Tokyo 1130033, Japan.
[Kuriu, Toshihiko] Tokushima Bunri Univ, Kagawa Sch Pharmaceut Sci, Dept Neurophysiol, Tokushima, Kagawa 7692193, Japan.
[Tabuchi, Katsuhiko] Shinshu Univ, Dept Mol & Cellular Physiol, Sch Med, Matsumoto, Nagano 3908621, Japan.
[Tabuchi, Katsuhiko] Japan Sci & Technol Agcy JST, PRESTO, Kawaguchi, Saitama 3320012, Japan.
[Takumi, Toru] RIKEN, Brain Sci Inst, Wako, Saitama 3510198, Japan.
[Takumi, Toru] Japan Sci & Technol Agcy JST, CREST, Kawaguchi, Saitama 3320012, Japan.
RP Okabe, S (reprint author), Univ Tokyo, Grad Sch Med, Dept Cellular Neurobiol, Bunkyo Ku, 7-3-1 Hongo, Tokyo 1130033, Japan.
EM okabe@m.u-tokyo.ac.jp
FU Ministry of Education, Culture, Sports, Science and Technology of Japan
[21220008, 25117006, 26250014]; Global COE Program; Takeda Science
Foundation [11J05614]; Naito Memorial Foundation
FX We thank Taisuke Mizuguchi and Noriyuki Hayashi for data analysis, Satoe
Ebihara for technical support, and Dr Shigeo Takamori for providing
VGluT1 antibody. The BTBR T + tf mouse strain (RBRC 01206) was provided
by RIKEN BRC through the National Bio-Resource Project of the MEXT,
Japan. This work was supported by Grants-in-Aid for Scientific Research
(21220008, 25117006 and 26250014 to S.O.), 'Development of biomarker
candidates for social behavior' study conducted under the Strategic
Research Program for Brain Sciences by the Ministry of Education,
Culture, Sports, Science and Technology of Japan (S.O.), Global COE
Program (Integrative Life Science Based on the Study of Biosignaling
Mechanisms to S.O.), Grant-in-Aid for JSPS Fellows (11J05614 to M.I.),
Takeda Science Foundation (S.O.) and Naito Memorial Foundation (S.O.).
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NR 68
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2041-1723
J9 NAT COMMUN
JI Nat. Commun.
PD AUG
PY 2014
VL 5
AR 4742
DI 10.1038/ncomms5742
PG 15
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO1OC
UT WOS:000341081500001
PM 25144834
ER
PT J
AU Zhu, XQ
Song, YW
Bi, HY
AF Zhu Xiao-Qian
Song Yao-Wu
Bi Hong-Yan
TI Researches on Atypical Lateralization of Autisms' Language Development
SO PROGRESS IN BIOCHEMISTRY AND BIOPHYSICS
LA Chinese
DT Review
DE autism; atypical lateralization; temporal lobe; frontal lobe; handness
ID SPECTRUM DISORDER; FUNCTIONAL MRI; INFANTILE-AUTISM; COMPLEX SOUNDS;
CHILDREN; BRAIN; ACTIVATION; HAND; PERCEPTION; HANDEDNESS
AB Autism spectrum disorders (ASD) is a widely developmental disabilities, with the main clinical features including barriers to social interaction, verbal and non-verbal communication defects, narrow interests and stereotyped behaviors. The present article aims to introduce some information about language impairment of autism, including relative researches published from 1986 to the current time on the neural mechanisms underlying autism's language impairment. This issue was addressed from brain structural, brain functional asymmetry, and the influence of handness, and at last, a summary was given based on the literatures, which is that the autism has an atypical right language lateralization both of structural and functional, there also exist available evidence that atypical handness is associated with poorer neurocognition or anomalous cerebral asymmetries. This article will be helpful for diagnosis and therapy to the autism in the future and will facilitate the research of ASDs under Chinese culture.
C1 [Zhu Xiao-Qian; Bi Hong-Yan] Chinese Acad Sci, Inst Psychol, Key Lab Behav Sci, Beijing 100101, Peoples R China.
[Zhu Xiao-Qian] Univ Chinese Acad Sci, Beijing 100049, Peoples R China.
[Song Yao-Wu] Hebei Univ, Coll Educ, Baoding 071002, Peoples R China.
RP Bi, HY (reprint author), Chinese Acad Sci, Inst Psychol, Key Lab Behav Sci, Beijing 100101, Peoples R China.
EM bihy@psych.ac.cn
FU National Natural Science Foundation of China [31371044, 30970910]
FX This work was supported by a grant from The National Natural Science
Foundation of China (31371044, 30970910).
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NR 56
TC 0
Z9 0
PU CHINESE ACAD SCIENCES, INST BIOPHYSICS
PI BEIJING
PA 15 DATUN RD, CHAOYAND DISTRICT, BEIJING, 100101, PEOPLES R CHINA
SN 1000-3282
J9 PROG BIOCHEM BIOPHYS
JI Prog. Biochem. Biophys.
PD AUG
PY 2014
VL 41
IS 8
BP 749
EP 754
DI 10.3724/SP.J.1206.2013.00296
PG 6
WC Biochemistry & Molecular Biology; Biophysics
SC Biochemistry & Molecular Biology; Biophysics
GA AN6JN
UT WOS:000340700900004
ER
PT J
AU Kallen, B
AF Kallen, Bengt
TI The risk of neurodisability and other long-term outcomes for infants
born following ART
SO SEMINARS IN FETAL & NEONATAL MEDICINE
LA English
DT Review
DE Assisted reproductive technology; Asthma; Attention
deficit/hyperactivity disorder; Autism; Childhood cancer; Epilepsy
ID IN-VITRO FERTILIZATION; ASSISTED REPRODUCTIVE TECHNOLOGY; AUTISM
SPECTRUM DISORDERS; HOSPITAL-CARE UTILIZATION; DANISH NATIONAL COHORT;
CHILDREN BORN; CEREBRAL-PALSY; TWINS BORN; NEUROLOGICAL SEQUELAE; IVF
CHILDREN
AB Children born after assisted reproductive technologies (ART) have an increased morbidity. The risk of developing cerebral palsy is nearly doubled and the risk of developing epilepsy is also higher. Behavioural problems including attention deficit/hyperactivity disorder may be more common in children born following ART than among naturally conceived children but the finding is uncertain. Data on autism are difficult to interpret. There may exist a small increase in the incidence of childhood cancer and there is greater evidence of an elevated risk of asthma. To some extent, these risks are mediated by neonatal complications including prematurity and low birth weight but some effects such as cerebral palsy are likely to be linked to the increased rate of multiple births after ART. Many of the neonatal complications after ART are most likely linked to parental subfertility and are less an effect of the ART technology. The possibility exists that imprinting errors, associated with subfertility and/or ART, may result in long-term morbidity. (C) 2014 Elsevier Ltd. All rights reserved.
C1 Lund Univ, Tornblad Inst, SE-22362 Lund, Sweden.
RP Kallen, B (reprint author), Lund Univ, Tornblad Inst, Biskospgatan 7, SE-22362 Lund, Sweden.
EM Bengt.Kallen@med.lu.se
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NR 43
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1744-165X
EI 1878-0946
J9 SEMIN FETAL NEONAT M
JI Semin. Fetal Neonatal Med.
PD AUG
PY 2014
VL 19
IS 4
BP 239
EP 244
DI 10.1016/j.siny.2014.04.002
PG 6
WC Pediatrics
SC Pediatrics
GA AN6JB
UT WOS:000340699700005
PM 24793634
ER
PT J
AU Abdel-Mannan, O
Sutcliffe, A
AF Abdel-Mannan, Omar
Sutcliffe, Alastair
TI I was born following ART: how will I get on at school?
SO SEMINARS IN FETAL & NEONATAL MEDICINE
LA English
DT Review
DE Assisted reproductive techniques; Children; Intracytoplasmic sperm
injection; In-vitro fertilisation; Neurodevelopmental outcome
ID INTRACYTOPLASMIC SPERM INJECTION; SPONTANEOUSLY CONCEIVED CHILDREN;
AUTISM SPECTRUM DISORDERS; VITRO FERTILIZATION; ASSISTED CONCEPTION;
CONGENITAL-MALFORMATIONS; CRYOPRESERVED EMBRYOS; SINGLETON CHILDREN;
MOTOR DEVELOPMENT; CEREBRAL-PALSY
AB With an ever-expanding population of children born after in-vitro fertilisation (IVF), the widespread use of assisted reproductive techniques (ART) has placed a great emphasis on the need to study their long-term outcomes. Indeed, there has been concern that mechanisms used in ART may have a detrimental effect on the neurocognitive development of these children. Reassuringly, most neurocognitive and motor development studies using various assessment scales have generally found no differences between intracytoplasmic sperm injection, IVF and naturally conceived children. Only a few studies have reported concerns. In terms of predictors of intelligence in children, ART appears to have a minimal effect in comparison to birth weight, gestational age, socio-economic status, and parental educational levels. Nevertheless, further research of higher methodological quality in children beyond pre-school age and on newer ART procedures is needed. (C) 2014 Published by Elsevier Ltd.
C1 [Abdel-Mannan, Omar; Sutcliffe, Alastair] Inst Child Hlth, Gen & Adolescent Paediat Unit, London WC1N 3HZ, England.
RP Abdel-Mannan, O (reprint author), Inst Child Hlth, Gen & Adolescent Paediat Unit, 43 Great Ormond St, London WC1N 3HZ, England.
EM o.abdel-mannan@ucl.ac.uk
FU Human Fertilisation and Embryology Authority
FX Dr Sutcliffe would like to acknowledge the historical and present
continuing support for his work from collaborating members of the
British Fertility Society, the Human Fertilisation and Embryology
Authority, and equivalent organisations in other countries such as
Belgium, Germany, Italy and others.
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NR 44
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1744-165X
EI 1878-0946
J9 SEMIN FETAL NEONAT M
JI Semin. Fetal Neonatal Med.
PD AUG
PY 2014
VL 19
IS 4
BP 245
EP 249
DI 10.1016/j.siny.2014.04.003
PG 5
WC Pediatrics
SC Pediatrics
GA AN6JB
UT WOS:000340699700006
PM 24935910
ER
PT J
AU Smith, HL
AF Smith, Herbert L.
TI Effects of Causes and Causes of Effects: Some Remarks From the
Sociological Side
SO SOCIOLOGICAL METHODS & RESEARCH
LA English
DT Editorial Material
DE causes; effects; potential outcomes; causal inference; probability of
cause
ID NO-FAULT DIVORCE; AUTISM; INFERENCE; RATES; RECONSIDERATION;
LEGISLATION; CAUSATION; RISK
AB Sociology is pluralist in subject matter, theory, and method, and thus a good place to entertain ideas about causation associated with their use under the law. I focus on two themes: (1) the legal lens on causation that "considers populations in order to make statements about individuals'' and (2) the importance of distinguishing between effects of causes and causes of effects.
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NR 40
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0049-1241
EI 1552-8294
J9 SOCIOL METHOD RES
JI Sociol. Methods. Res.
PD AUG
PY 2014
VL 43
IS 3
BP 406
EP 415
DI 10.1177/0049124114521149
PG 10
WC Social Sciences, Mathematical Methods; Sociology
SC Mathematical Methods In Social Sciences; Sociology
GA AN6SH
UT WOS:000340726700005
ER
PT J
AU Muller, M
Can, K
AF Mueller, Michael
Can, Karolina
TI Aberrant redox homoeostasis and mitochondrial dysfunction in Rett
syndrome
SO BIOCHEMICAL SOCIETY TRANSACTIONS
LA English
DT Article
DE antioxidant; autism spectrum disorder; mitochondrial disease; oxidative
stress; reactive oxygen species (ROS); redox imaging
ID MOUSE MODEL; OXIDATIVE STRESS; CARBOHYDRATE-METABOLISM; MECP2; BRAIN;
ABNORMALITIES; NEURONS; EXPRESSION; MUTATION; DISEASE
AB RTT (Rett syndrome) is a severe progressive neurodevelopmental disorder with a monogenetic cause, but complex and multifaceted clinical appearance. Compelling evidence suggests that mitochondrial alterations and aberrant redox homoeostasis result in oxidative challenge. Yet, compared with other severe neuropathologies, RTT is not associated with marked neurodegeneration, but rather a chemical imbalance and miscommunication of neuronal elements. Different pharmacotherapies mediate partial improvement of conditions in RTT, and also antioxidants or compounds improving mitochondrial function may be of potential merit. In the present paper, we summarize findings from patients and transgenic mice that point towards the nature of RTT as a mitochondrial disease. Also, open questions are addressed that require clarification to fully understand and successfully target the associated cellular redox imbalance.
C1 [Mueller, Michael; Can, Karolina] Univ Gottingen, Inst Neuro & Sinnesphysiol, Zentrum Physiol & Pathophysiol,Univ Med, Ctr Nanoscale Microscopy & Mol Physiol Brain CNMP, D-37073 Gottingen, Germany.
RP Muller, M (reprint author), Univ Gottingen, Inst Neuro & Sinnesphysiol, Zentrum Physiol & Pathophysiol,Univ Med, Ctr Nanoscale Microscopy & Mol Physiol Brain CNMP, Humboldtallee 23, D-37073 Gottingen, Germany.
EM mmuelle7@gwdg.de
RI Muller, Michael/F-7222-2010
FU Deutsche Forschungsgemeinschaft (Center for Nanoscale Microscopy and
Molecular Physiology of the Brain, CNMPB); International Rett Syndrome
Foundation (IRSF) [2817]
FX Our research was funded by the Deutsche Forschungsgemeinschaft (Center
for Nanoscale Microscopy and Molecular Physiology of the Brain, CNMPB)
and the International Rett Syndrome Foundation (IRSF) [grant number
2817].
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NR 50
TC 0
Z9 0
PU PORTLAND PRESS LTD
PI LONDON
PA CHARLES DARWIN HOUSE, 12 ROGER STREET, LONDON WC1N 2JU, ENGLAND
SN 0300-5127
EI 1470-8752
J9 BIOCHEM SOC T
JI Biochem. Soc. Trans.
PD AUG
PY 2014
VL 42
BP 959
EP 964
DI 10.1042/BST20140071
PN 4
PG 6
WC Biochemistry & Molecular Biology
SC Biochemistry & Molecular Biology
GA AN1FX
UT WOS:000340329200039
PM 25109986
ER
PT J
AU El Marroun, H
White, TJH
van der Knaap, NJF
Homberg, JR
Fernandez, G
Schoemaker, NK
Jaddoe, VWV
Hofman, A
Verhulst, FC
Hudziak, JJ
Stricker, BHC
Tiemeier, H
AF El Marroun, Hanan
White, Tonya J. H.
van der Knaap, Noortje J. F.
Homberg, Judith R.
Fernandez, Guilen
Schoemaker, Nikita K.
Jaddoe, Vincent W. V.
Hofman, Albert
Verhulst, Frank C.
Hudziak, James J.
Stricker, Bruno H. C.
Tiemeier, Henning
TI Prenatal exposure to selective serotonin reuptake inhibitors and social
responsiveness symptoms of autism: population-based study of young
children
SO BRITISH JOURNAL OF PSYCHIATRY
LA English
DT Article
ID ANTIDEPRESSANT EXPOSURE; FETAL-GROWTH; IN-UTERO; MATERNAL DEPRESSION;
SPECTRUM DISORDERS; BEHAVIOR CHECKLIST; NEONATAL OUTCOMES; STATISTICS
NOTES; BIRTH OUTCOMES; PREGNANT-WOMEN
AB Background Selective serotonin reuptake inhibitors (SSRIs) are considered safe and are frequently used during pregnancy. However, two case-control studies suggested an association between prenatal SSRI exposure with childhood autism.
Aims To prospectively determine whether intra-uterine SSSRI exposure is associated with childhood autistic symptoms in a population-based study.
Method A total of 376 children prenatally exposed to maternal depressive symptoms (no SSRI exposure), 69 children prenatally exposed to SSRIs and 5531 unexposed children were included. Child pervasive developmental and affective problems were assessed by parental report with the Child Behavior Checklist at ages 1.5, 3 and 6. At age 6, we assessed autistic traits using the Social Responsiveness Scale (n = 4264).
Results Prenatal exposure to maternal depressive symptoms without SSRIs was related to both pervasive developmental (odds ratio (OR) = 1.44, 95% CI 1.07-1.93) and affective problems (OR = 1.44, 95% CI 1.15-1.81). Compared with unexposed children, those prenatally exposed to SSRIs also were at higher risk for developing pervasive developmental problems (OR = 1.91, 95% CI 1.13-3.47), but not for affective problems. Children prenatally exposed to SSRIs also had more autistic traits (B=0.15, 95% CI 0.08-0.22) compared with those exposed to depressive symptoms only.
Conclusions Our results suggest an association between prenatal SSRI exposure and autistic traits in children. Prenatal depressive symptoms without SSRI use were also associated with autistic traits, albeit this was weaker and less specific. Longterm drug safety trials are needed before evidence-based recommendations are possible.
C1 [El Marroun, Hanan; White, Tonya J. H.; Schoemaker, Nikita K.] Sophia Childrens Univ Hosp, Dept Child & Adolescent Psychiat, NL-3000 CB Rotterdam, Netherlands.
[El Marroun, Hanan; Schoemaker, Nikita K.] Erasmus MC, Generat R Study Grp, Rotterdam, Netherlands.
[White, Tonya J. H.] Erasmus MC, Dept Radiol, Rotterdam, Netherlands.
[van der Knaap, Noortje J. F.; Homberg, Judith R.; Fernandez, Guilen] Donders Inst Brain Cognit & Behav, Dept Cognit Neurosci, Nijmegen, Netherlands.
[Jaddoe, Vincent W. V.] Erasmus MC, Dept Epidemiol, Generat R Study Grp, Rotterdam, Netherlands.
[Jaddoe, Vincent W. V.] Erasmus MC, Dept Pediat, Rotterdam, Netherlands.
[Hofman, Albert; Stricker, Bruno H. C.] Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands.
[Verhulst, Frank C.; Hudziak, James J.; Tiemeier, Henning] Sophia Childrens Univ Hosp, Erasmus Med Ctr, Dept Child & Adolescent Psychiat, NL-3000 CB Rotterdam, Netherlands.
[Hudziak, James J.] Univ Vermont, Coll Med, Deptartment Psychiat, Burlington, VT USA.
[Stricker, Bruno H. C.] Inspectorate Healthcare, The Hague, Netherlands.
[Tiemeier, Henning] Sophia Childrens Univ Hosp, Dept Child & Adolescent Psychiat, Dept Epidemiol, NL-3000 CB Rotterdam, Netherlands.
[Tiemeier, Henning] Erasmus MC, Dept Psychiat, Rotterdam, Netherlands.
RP Tiemeier, H (reprint author), Sophia Childrens Univ Hosp, Erasmus Med Ctr, Dept Child & Adolescent Psychiat, NL-3000 CB Rotterdam, Netherlands.
EM h.tiemeier@erasmusmc.nl
RI Fernandez, Guillen/B-3771-2009; Homberg, Judith/D-2473-2010
OI Fernandez, Guillen/0000-0002-5522-0604;
FU Sophia Children's Hospital Fund [SSWO-616]; Erasmus Medical Centre;
Netherlands Organization for Health Research and Development (Zon MW
Geestkracht Program) [10.000.1003]; Netherlands Organization for Health
Research and Development (ZonMw TOP) [40-00812-98-11021]; Netherlands
Organization for Health Research and Development (NWO Brain & Cognition
Program) [433-09-311]; Netherlands Organization for Health Research and
Development (VIDI) [017.106.370]
FX The Sophia Children's Hospital Fund (SSWO-616) supported this work
financially. The first phase of the Generation R Study was made possible
by financial support from the Erasmus Medical Centre and The Netherlands
Organization for Health Research and Development (Zon MW Geestkracht
Program 10.000.1003 & ZonMw TOP 40-00812-98-11021, NWO Brain & Cognition
Program Grant 433-09-311 and VIDI Grant 017.106.370)
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NR 56
TC 2
Z9 2
PU ROYAL COLLEGE OF PSYCHIATRISTS
PI LONDON
PA BRITISH JOURNAL OF PSYCHIATRY 17 BELGRAVE SQUARE, LONDON SW1X 8PG,
ENGLAND
SN 0007-1250
EI 1472-1465
J9 BRIT J PSYCHIAT
JI Br. J. Psychiatry
PD AUG
PY 2014
VL 205
IS 2
BP 95
EP 102
DI 10.1192/bjp.bp.113.127746
PG 8
WC Psychiatry
SC Psychiatry
GA AM7CR
UT WOS:000340022800004
PM 25252317
ER
EF