FN Thomson Reuters Web of Science™
VR 1.0
PT J
AU Jones, I
McDonald, L
AF Jones, Ian
McDonald, Liz
TI Living with uncertainty: antidepressants and pregnancy
SO BRITISH JOURNAL OF PSYCHIATRY
LA English
DT Editorial Material
ID SEROTONIN REUPTAKE INHIBITORS; AUTISM SPECTRUM DISORDERS;
CONGENITAL-MALFORMATIONS; RISK
AB There have been a large number of studies in recent years reporting on the reproductive safety of antidepressant medication. Some studies, but not all, have reported an association of antidepressant exposure in pregnancy and the subsequent development of autism spectrum disorders. It remains difficult to know whether the modest increase in risk is due to the medication, to the mood disorder itself, or to other confounding factors. For any individual woman the decision to commence or continue antidepressant medication in pregnancy must be made after a full consideration of the potential risks and benefits of all options, including non-pharmacological treatments.
In making these difficult decisions it is important to recognise that episodes of severe psychiatric illness may have very serious negative consequences for the woman, her baby and her family, and these must be weighed against what is known about the risks of taking medication.
C1 [Jones, Ian; McDonald, Liz] Royal Coll Psychiatrists, Sect Perinatal Psychiat, London, England.
[Jones, Ian] Cardiff Univ, Natl Ctr Mental Hlth, Cardiff CF24 4HQ, S Glam, Wales.
[McDonald, Liz] East London NHS Fdn Trust, London, England.
RP Jones, I (reprint author), Cardiff Univ, Natl Ctr Mental Hlth, Hadyn Ellis Bldg,Maindy Rd, Cardiff CF24 4HQ, S Glam, Wales.
EM jonesir1@cf.ac.uk
CR Ahmed H, 2012, BRIT MED J, V344, DOI 10.1136/bmj.e3996
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El Marroun H, 2014, BRIT J PSYCHIAT, V205, P95, DOI 10.1192/bjp.bp.113.127746
NR 13
TC 0
Z9 0
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 103
EP 104
DI 10.1192/bjp.bp.113.141713
PG 2
WC Psychiatry
SC Psychiatry
GA AM7CR
UT WOS:000340022800005
PM 25252318
ER
PT J
AU Feldman, R
Golan, O
Hirschler-Guttenberg, Y
Ostfeld-Etzion, S
Zagoory-Sharon, O
AF Feldman, Ruth
Golan, Ofer
Hirschler-Guttenberg, Yael
Ostfeld-Etzion, Sharon
Zagoory-Sharon, Orna
TI Parent child interaction and oxytocin production in pre-schoolers with
autism spectrum disorder
SO BRITISH JOURNAL OF PSYCHIATRY
LA English
DT Article
ID RECEPTOR GENE OXTR; INTRANASAL OXYTOCIN; SOCIAL ENGAGEMENT; ASSOCIATION;
EXPRESSION; SYNCHRONY; COGNITION; BEHAVIOR
AB Background Autism spectrum disorder (ASD) is associated with genetic risk on the oxytocin,system, suggesting oxytocin involvement in ASD; yet oxytocin functioning in young children with ASD is unknown.
Aims To assess baseline oxytocin in pre-schoolers with ASD and test whether oxytocin production may be enhanced by parent-child contact.
Method Forty pre-schoolers with high-functioning ASD were matched with 40. typically developing controls. Two home visits included an identical 45-minute social battery once with the mother and once with the father. Four saliva oxytocin samples were collected from each parent and the child during each visit.
Results Children with ASD had lower baseline oxytocin. Following 20 mm of parent-child interactions, oxytocin normalised and remained high during social contact. Fifteen. minutes after contact, oxytocin fell to baseline. Oxytocin correlated with parent-child social synchrony in both groups.
Conclusions Oxytocin dysfunction in ASD is observed in early childhood. The quick improvement in oxytocin production following parent-child contact underscores the malleability of the system and charts future directions for attachment-based behavioural and pharmacological interventions.
C1 [Feldman, Ruth; Golan, Ofer; Hirschler-Guttenberg, Yael; Ostfeld-Etzion, Sharon; Zagoory-Sharon, Orna] Bar Ilan Univ, Dept Psychol, IL-52900 Ramat Gan, Israel.
[Feldman, Ruth; Golan, Ofer; Hirschler-Guttenberg, Yael; Ostfeld-Etzion, Sharon; Zagoory-Sharon, Orna] Bar Ilan Univ, Gonda Brain Sci Ctr, IL-52900 Ramat Gan, Israel.
RP Feldman, R (reprint author), Bar Ilan Univ, Dept Psychol, IL-52900 Ramat Gan, Israel.
EM feldman@mail.biu.ac.il
FU German-Israeli Science Foundation [1114-101.4/2010]; Irving B. Harris
Foundation; US-Israeli Bi-National Science Foundation; Association for
Children at Risk, Israel
FX The study was supported by the German-Israeli Science Foundation
(1114-101.4/2010), the Irving B. Harris Foundation, the US-Israeli
Bi-National Science Foundation, and the Association for Children at
Risk, Israel.
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 28
TC 1
Z9 1
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 107
EP 112
DI 10.1192/bjp.bp.113.137513
PG 6
WC Psychiatry
SC Psychiatry
GA AM7CR
UT WOS:000340022800007
PM 24855128
ER
PT J
AU Kwon, DY
Zhou, ZL
AF Kwon, Deborah Y.
Zhou, Zhaolan
TI Trapping MBD5 to understand 2q23.1 microdeletion syndrome
SO EMBO MOLECULAR MEDICINE
LA English
DT Editorial Material
ID AUTISM SPECTRUM DISORDER
AB Despite genetic evidence implicating MBD5 as the only overlapping gene between various 2q23.1 microdeletions, the function of MBD5 and its causality to 2q23.1 microdeletion syndrome, a disorder characterized by developmental delay and autistic features, has yet to be determined. In this issue of EMBO Molecular Medicine, Camarena etal generate an Mbd5 gene-trap mouse model and show for the first time that mice with reduced MBD5 expression develop behavioral abnormalities with neuronal function deficits, mimicking symptoms in 2q23.1 microdeletion syndrome, thus supporting a causal role for MBD5 haploinsufficiency in the disorder.
C1 [Kwon, Deborah Y.; Zhou, Zhaolan] Univ Penn, Dept Genet, Perelman Sch Med, Philadelphia, PA 19104 USA.
RP Kwon, DY (reprint author), Univ Penn, Dept Genet, Perelman Sch Med, Philadelphia, PA 19104 USA.
EM zhaolan@mail.med.upenn.edu
CR Camarena V, 2014, EMBO MOL MED, V6, P1003, DOI 10.15252/emmm.201404044
Chahrour M, 2007, NEURON, V56, P422, DOI 10.1016/j.neuron.2007.10.001
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NR 10
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1757-4676
EI 1757-4684
J9 EMBO MOL MED
JI EMBO Mol. Med.
PD AUG
PY 2014
VL 6
IS 8
BP 993
EP 994
DI 10.15252/emmm.201404324
PG 2
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AN2LN
UT WOS:000340416800001
PM 25001217
ER
PT J
AU Camarena, V
Cao, L
Abad, C
Abrams, A
Toledo, Y
Araki, K
Araki, M
Walz, K
Young, JI
AF Camarena, Vladimir
Cao, Lei
Abad, Clemer
Abrams, Alexander
Toledo, Yaima
Araki, Kimi
Araki, Masatake
Walz, Katherina
Young, Juan I.
TI Disruption of Mbd5 in mice causes neuronal functional deficits and
neurobehavioral abnormalities consistent with 2q23.1 microdeletion
syndrome
SO EMBO MOLECULAR MEDICINE
LA English
DT Article
DE autistic disorder; intellectual disability; MBD5; mouse model
ID IMPAIRED SOCIAL-INTERACTION; AUTISM SPECTRUM DISORDER; INTELLECTUAL
DISABILITY; DEVELOPMENTAL DELAY; BINDING DOMAIN; MOUSE MODELS; GENE;
FEATURES; MUTATIONS; IDENTIFICATION
AB 2q23.1 microdeletion syndrome is characterized by intellectual disability, motor delay, autistic-like behaviors, and a distinctive craniofacial phenotype. All patients carry a partial or total deletion of methyl-CpG-binding domain protein 5 (MBD5), suggesting that haploinsufficiency of this gene is responsible for the phenotype. To confirm this hypothesis and to examine the role of MBD5 in vivo, we have generated and characterized an Mbd5 gene-trap mouse model. Our study indicates that the Mbd5(+/GT) mouse model recapitulates most of the hallmark phenotypes observed in 2q23.1 deletion carriers including abnormal social behavior, cognitive impairment, and motor and craniofacial abnormalities. In addition, neuronal cultures uncovered a deficiency in neurite outgrowth. These findings support a causal role of MBD5 in 2q23.1 microdeletion syndrome and suggest a role for MBD5 in neuronal processes. The Mbd5(+/GT) mouse model will advance our understanding of the abnormal brain development underlying the emergence of 2q23.1 deletion-associated behavioral and cognitive symptoms.
C1 [Camarena, Vladimir; Cao, Lei; Abrams, Alexander; Toledo, Yaima; Walz, Katherina; Young, Juan I.] Univ Miami, Dept Human Genet, John T Macdonald Fdn, Miami, FL USA.
[Abad, Clemer; Walz, Katherina; Young, Juan I.] Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA.
[Araki, Kimi; Araki, Masatake] Kumamoto Univ, Inst Resource Dev & Anal, Kumamoto, Japan.
RP Young, JI (reprint author), Univ Miami, Dept Human Genet, John T Macdonald Fdn, Miami, FL USA.
EM jyoung3@med.miami.edu
FU Le Jerome Lejeune Foundation
FX We thank Alison Castle for technical assistance. This study was
supported in part by Le Jerome Lejeune Foundation.
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NR 35
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1757-4676
EI 1757-4684
J9 EMBO MOL MED
JI EMBO Mol. Med.
PD AUG
PY 2014
VL 6
IS 8
BP 1003
EP 1015
DI 10.15252/emmm.201404044
PG 13
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AN2LN
UT WOS:000340416800003
PM 25001218
ER
PT J
AU Busquets-Garcia, A
Maldonado, R
Ozaita, A
AF Busquets-Garcia, Arnau
Maldonado, Rafael
Ozaita, Andres
TI New insights into the molecular pathophysiology of fragile X syndrome
and therapeutic perspectives from the animal model
SO INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
LA English
DT Article
DE Autism; Fragile X syndrome; mGluR5; Mammalian target of rapamycin
(mTOR); Endocannabinoid system; CB1 cannabinoid receptor; Intellectual
disability; Anxiety; Epilepsy; Nociception
ID MENTAL-RETARDATION PROTEIN; LONG-TERM POTENTIATION; FMR1 KNOCKOUT MICE;
GLYCOGEN-SYNTHASE KINASE-3; SELF-INJURIOUS-BEHAVIOR; MOUSE MODEL;
SYNAPTIC PLASTICITY; NEURODEVELOPMENTAL DISORDERS; ENDOCANNABINOID
SYSTEM; AUDIOGENIC-SEIZURES
AB Fragile X syndrome is the most common monogenetic form of intellectual disability and is a leading cause of autism. This syndrome is produced by the reduced transcription of the fragile X mental retardation (FMR1) gene, and it is characterized by a range of symptoms heterogeneously expressed in patients such as cognitive impairment, seizure susceptibility, altered pain sensitivity and anxiety. The recent advances in the understanding of the pathophysiological mechanisms involved have opened novel potential therapeutic approaches identified in preclinical rodent models as a necessary preliminary step for the subsequent evaluation in patients. Among those possible therapeutic approaches, the modulation of the metabotropic glutamate receptor signaling or the GABA receptor signaling have focused most of the attention. New findings in the animal models open other possible therapeutic approaches such as the mammalian target of rapamycin signaling pathway or the endocannabinoid system. This review summarizes the emerging data recently obtained in preclinical models of fragile X syndrome supporting these new therapeutic perspectives. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Busquets-Garcia, Arnau; Maldonado, Rafael; Ozaita, Andres] Univ Pompeu Fabra, Dept Ciencies Expt & Salut, Barcelona 08003, Spain.
RP Ozaita, A (reprint author), Univ Pompeu Fabra, Fac Ciencies Salut & Vida, Lab Neurofarmacol, Parc Recerca Biomed Barcelona, Barcelona 08003, Spain.
EM andres.ozaita@upf.edu
RI Maldonado, Rafael/F-5657-2014
OI Maldonado, Rafael/0000-0002-4359-8773
FU Ministerio de Educacion y Cultura; "Investments for the future"
Programme IdEx Bordeaux, French National Research Agency
[ANR-10-IDEX-03-02]; FRAXA Research Foundation; Jerome Lejeune
Foundation; Ministerio de Ciencia e Innovacion [BFU2012-33500,
SAF2011-29864]; Instituto de Salud Carlos III [RD06/0001/0001]; PLANE
(Plan Espanol para el Estimulo de la Economia y el Empleo); Generalitat
de Catalunya [SGR-2009-00731]; ICREA (Institucio Catalana de Recerca i
Estudis Avancats) Academia
FX AB-G was recipient of a predoctoral fellowship (Ministerio de Educacion
y Cultura) and supported by "Investments for the future" Programme IdEx
Bordeaux (ANR-10-IDEX-03-02, French National Research Agency). Related
research on the subject was supported by grants from FRAXA Research
Foundation (A.O.), Jerome Lejeune Foundation (A.O.), Ministerio de
Ciencia e Innovacion (#BFU2012-33500 to A.O., #SAF2011-29864 to R.M.);
Instituto de Salud Carlos III (RD06/0001/0001 to R.M.); PLANE (Plan
Espanol para el Estimulo de la Economia y el Empleo); Generalitat de
Catalunya (SGR-2009-00731 to R.M.); ICREA (Institucio Catalana de
Recerca i Estudis Avancats) Academia to R.M.
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NR 102
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 1357-2725
EI 1878-5875
J9 INT J BIOCHEM CELL B
JI Int. J. Biochem. Cell Biol.
PD AUG
PY 2014
VL 53
BP 121
EP 126
DI 10.1016/j.biocel.2014.05.004
PG 6
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA AN1KE
UT WOS:000340340400015
PM 24831882
ER
PT J
AU Wei, HG
Alberts, I
Li, XH
AF Wei, Hongen
Alberts, Ian
Li, Xiaohong
TI The apoptotic perspective of autism
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
LA English
DT Article
DE Autism; Apoptosis; Protein; Signaling pathway; Mechanism
ID PROGRAMMED CELL-DEATH; HEPATOCYTE GROWTH-FACTOR; MET TYROSINE KINASE;
SPECTRUM DISORDERS; MENTAL-RETARDATION; OXIDATIVE STRESS; C-MET;
NEURONAL APOPTOSIS; SIGNALING PATHWAY; INFANTILE-AUTISM
AB Autism is a severe neurodevelopmental disorder characterized by impairments in social interaction, deficits in verbal and non-verbal communication, and repetitive behavior and restricted interests. The normal brain development during fetal brain development and the first year of life is critical to the behaviors and cognitions in adulthood. Programmed cell death (apoptosis) is an important mechanism that determines the size and shape of the brain and regulates the proper wiring of developing neuronal networks. Pathological activation of apoptotic death pathways under pathological conditions may lead to neuroanatomic abnormalities and possibly to developmental disabilities. It has been demonstrated a possible association between neural cell death and autism. Here, the abnormal apoptosis found in autism from postmortem and animal studies was reviewed and the possible mechanism was discussed. (C) 2014 ISDN. Published by Elsevier Ltd. All rights reserved.
C1 [Wei, Hongen] Shanxi Med Univ, Shanxi Prov Peoples Hosp, Cent Lab, Taiyuan 030012, Peoples R China.
[Alberts, Ian] CUNY, LaGuardia CC, Dept Nat Sci, New York, NY 11101 USA.
[Li, Xiaohong] NY State Inst Basic Res Dev Disabil, Dept Neurochem, New York, NY 10314 USA.
RP Wei, HG (reprint author), Shanxi Med Univ, Shanxi Prov Peoples Hosp, Cent Lab, 29 Shuangta Rd, Taiyuan 030012, Peoples R China.
EM hongenwei@gmail.com
FU National Natural Science Foundation of China [81201061]; Shanxi
Scholarship Council of China [2013-124]; Natural Science Foundation of
Shanxi [2013021036-2]
FX This work was supported by grants to H. Wei from the National Natural
Science Foundation of China (No. 81201061), Shanxi Scholarship Council
of China (No. 2013-124) and Natural Science Foundation of Shanxi (No.
2013021036-2).
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NR 91
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0736-5748
EI 1873-474X
J9 INT J DEV NEUROSCI
JI Int. J. Dev. Neurosci.
PD AUG
PY 2014
VL 36
BP 13
EP 18
DI 10.1016/j.ijdevneu.2014.04.004
PG 6
WC Developmental Biology; Neurosciences
SC Developmental Biology; Neurosciences & Neurology
GA AN1JW
UT WOS:000340339600003
PM 24798024
ER
PT J
AU Knoth, IS
Vannasing, P
Major, P
Michaud, JL
Lippe, S
AF Knoth, Inga Sophia
Vannasing, Phetsamone
Major, Philippe
Michaud, Jacques L.
Lippe, Sarah
TI Alterations of visual and auditory evoked potentials in fragile X
syndrome
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
LA English
DT Article
DE Fragile X syndrome; Intellectual disability; Autism; Sensory information
processing; Auditory evoked potential; Visual evoked potential
ID MENTAL-RETARDATION PROTEIN; ABERRANT BEHAVIOR; CHILDREN; AUTISM;
INHIBITION; MATURATION; DISORDERS; FIELDS; ADULTS; ALPHA
AB Background: Fragile X Syndrome (FXS) is the most common monogenic form of intellectual disability and one of the few known monogenic causes of autism. It is caused by a trinucleotide repeat expansion in the FMR1 ('Fragile X Mental Retardation 1') gene, which prevents expression of the 'Fragile X Mental Retardation Protein' (FMRP). In FXS, the absence of FMRP leads to altered structural and functional development of the synapse, while preventing activity-based synapse maturation and synaptic pruning, which are essential for normal brain development and cognitive development. Possible impairments in information processing can be non-invasively investigated using electrophysiology.
Methods: We compared auditory (AEP) and visual (VEP) evoked potentials in twelve adolescents and young adults (10-22 years) affected by FXS to healthy controls matched by chronological age (N = 12) and developmental age of cognitive functioning (N = 9; 5-7 years), using analysis of variance.
Results: In the visual modality, the N70 and N2 amplitude have been found increased in FXS in comparison. to the chronological, but not the developmental control group at occipital sites, whereas in the auditory modality N1, P2 and N2 amplitude as well as N2 latency have been found increased in FXS, relative to both chronological and developmental control groups at mid-central sites.
Conclusions: The AEP/VEP profile suggests disruptions in sensory processing specific to FXS that exceed immaturity of physiological activity. In addition, the auditory modality seems to be more affected than the visual modality. Results are discussed in light of possible underlying neuronal mechanisms, including deficits in synaptic pruning and neuronal inhibition that might account for a hyperreactive nervous system in FXS. (C) 2014 ISDN. Published by Elsevier Ltd. All rights reserved.
C1 [Knoth, Inga Sophia; Vannasing, Phetsamone; Major, Philippe; Michaud, Jacques L.; Lippe, Sarah] Univ Montreal, CHU Ste Justine, Mother & Child Univ Hosp Ctr, Res Ctr, Montreal, PQ H3T 1C5, Canada.
[Knoth, Inga Sophia; Lippe, Sarah] Univ Montreal, Dept Psychol, Montreal, PQ H3T 1C5, Canada.
[Knoth, Inga Sophia; Lippe, Sarah] Univ Montreal, Ctr Rech Neuropsychol & Cognit, Montreal, PQ H3T 1C5, Canada.
RP Knoth, IS (reprint author), Univ Montreal, CHU Ste Justine, Mother & Child Univ Hosp Ctr, Res Ctr, 3175 Chemin Cote St Catherine, Montreal, PQ H3T 1C5, Canada.
EM Inga.Knoth@umontreal.ca
FU Scottish Rite Charitable Foundation of Canada [12112]
FX This research was supported by a Scottish Rite Charitable Foundation of
Canada grant to Sarah Lippe 12112. We thank Domitille Malfait for
carrying out the neuropsychological evaluation of most of the patients
and Patricia Laniel and Maude Joannette for their help in the
acquisition of EEG data. We thank language editor J. Arthur White for
significantly revising the manuscript.
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NR 40
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0736-5748
EI 1873-474X
J9 INT J DEV NEUROSCI
JI Int. J. Dev. Neurosci.
PD AUG
PY 2014
VL 36
BP 90
EP 97
DI 10.1016/j.ijdevneu.2014.05.003
PG 8
WC Developmental Biology; Neurosciences
SC Developmental Biology; Neurosciences & Neurology
GA AN1JW
UT WOS:000340339600013
PM 24875778
ER
PT J
AU Barak, N
Deutsch, D
Shapiro, A
Gordon, G
Assa, E
Oram, T
Yizhar, O
Ahissar, E
Kimchi, T
AF Barak, N.
Deutsch, D.
Shapiro, A.
Gordon, G.
Assa, E.
Oram, T.
Yizhar, O.
Ahissar, E.
Kimchi, T.
TI High resolution analysis of sniffing-whisking patterns during
object-approach in autism-related mouse models
SO JOURNAL OF MOLECULAR NEUROSCIENCE
LA English
DT Meeting Abstract
CT 22nd Annual Meeting of the Israel-Society-for-Neuroscience (ISFN) / 2nd
Bi National Italy-Israel Neuroscience Meeting
CY DEC 14-17, 2013
CL Eilat, ISRAEL
SP Israel Soc Neuroscience
C1 [Barak, N.; Deutsch, D.; Shapiro, A.; Gordon, G.; Assa, E.; Oram, T.; Yizhar, O.; Ahissar, E.; Kimchi, T.] Weizmann Inst Sci, Dept Neurobiol, IL-7610001 Rehovot, Israel.
NR 0
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 AUG
PY 2014
VL 53
SU 1
BP S11
EP S11
PG 1
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AN3GN
UT WOS:000340474000020
ER
PT J
AU Dinstein, I
AF Dinstein, I
TI Studying the anatomy and neurophysiology of autism
SO JOURNAL OF MOLECULAR NEUROSCIENCE
LA English
DT Meeting Abstract
CT 22nd Annual Meeting of the Israel-Society-for-Neuroscience (ISFN) / 2nd
Bi National Italy-Israel Neuroscience Meeting
CY DEC 14-17, 2013
CL Eilat, ISRAEL
SP Israel Soc Neuroscience
NR 0
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 AUG
PY 2014
VL 53
SU 1
BP S36
EP S36
PG 1
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AN3GN
UT WOS:000340474000088
ER
PT J
AU Eisen, A
Frumin, I
Rozenkrantz, L
Weissbrod, A
Yoran-Hegesh, R
Zachor, D
Sobel, N
AF Eisen, A.
Frumin, I
Rozenkrantz, L.
Weissbrod, A.
Yoran-Hegesh, R.
Zachor, D.
Sobel, N.
TI Altered chemosignaling in young adults with autism spectrum disorder
SO JOURNAL OF MOLECULAR NEUROSCIENCE
LA English
DT Meeting Abstract
CT 22nd Annual Meeting of the Israel-Society-for-Neuroscience (ISFN) / 2nd
Bi National Italy-Israel Neuroscience Meeting
CY DEC 14-17, 2013
CL Eilat, ISRAEL
SP Israel Soc Neuroscience
C1 [Eisen, A.; Frumin, I; Rozenkrantz, L.; Weissbrod, A.; Sobel, N.] Weizmann Inst Sci, Dept Neurobiol, IL-76100 Rehovot, Israel.
[Zachor, D.] Asaf Harofeh Med Ctr, Autism Ctr, Zerifin, Israel.
NR 0
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 AUG
PY 2014
VL 53
SU 1
BP S39
EP S40
PG 2
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AN3GN
UT WOS:000340474000097
ER
PT J
AU Haar, S
Berman, S
Behrmann, M
Dinstein, I
AF Haar, S.
Berman, S.
Behrmann, M.
Dinstein, I
TI Anatomical MRI findings in autism are likely to be of low clinical and
scientific significance
SO JOURNAL OF MOLECULAR NEUROSCIENCE
LA English
DT Meeting Abstract
CT 22nd Annual Meeting of the Israel-Society-for-Neuroscience (ISFN) / 2nd
Bi National Italy-Israel Neuroscience Meeting
CY DEC 14-17, 2013
CL Eilat, ISRAEL
SP Israel Soc Neuroscience
C1 [Haar, S.; Dinstein, I] Ben Gurion Univ Negev, Dept Brain & Cognit Sci, IL-84105 Beer Sheva, Israel.
[Haar, S.; Berman, S.; Dinstein, I] Ben Gurion Univ Negev, Zlotowski Ctr Neurosci, IL-84105 Beer Sheva, Israel.
[Berman, S.] Ben Gurion Univ Negev, Dept Ind Engn & Management, IL-84105 Beer Sheva, Israel.
[Behrmann, M.] Carnegie Mellon Univ, Dept Psychol, Pittsburgh, PA 15213 USA.
[Dinstein, I] Ben Gurion Univ Negev, Dept Psychol, IL-84105 Beer Sheva, Israel.
NR 0
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 AUG
PY 2014
VL 53
SU 1
BP S59
EP S59
PG 1
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AN3GN
UT WOS:000340474000151
ER
PT J
AU Kay, M
Wagner, S
AF Kay, M.
Wagner, S.
TI Analysis of social behavior deficits in a rat model of autism spectrum
disorders
SO JOURNAL OF MOLECULAR NEUROSCIENCE
LA English
DT Meeting Abstract
CT 22nd Annual Meeting of the Israel-Society-for-Neuroscience (ISFN) / 2nd
Bi National Italy-Israel Neuroscience Meeting
CY DEC 14-17, 2013
CL Eilat, ISRAEL
SP Israel Soc Neuroscience
C1 [Kay, M.; Wagner, S.] Univ Haifa, IL-31999 Haifa, Israel.
NR 0
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 AUG
PY 2014
VL 53
SU 1
BP S67
EP S68
PG 2
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AN3GN
UT WOS:000340474000175
ER
PT J
AU Kipnis, J
AF Kipnis, J.
TI Microglia and other tissue resident macrophages in tissue maintenance:
phagocytic activity and autism
SO JOURNAL OF MOLECULAR NEUROSCIENCE
LA English
DT Meeting Abstract
CT 22nd Annual Meeting of the Israel-Society-for-Neuroscience (ISFN) / 2nd
Bi National Italy-Israel Neuroscience Meeting
CY DEC 14-17, 2013
CL Eilat, ISRAEL
SP Israel Soc Neuroscience
C1 [Kipnis, J.] Univ Virginia, Dept Neurosci, Ctr Brain Immunol & Glia BIG, Charlottesville, VA 22908 USA.
NR 0
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 AUG
PY 2014
VL 53
SU 1
BP S70
EP S70
PG 1
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AN3GN
UT WOS:000340474000183
ER
PT J
AU Rozenkrantz, L
Heller, I
Plotkin, A
Weissbrod, A
Zachor, D
Sobel, N
AF Rozenkrantz, L.
Heller, I
Plotkin, A.
Weissbrod, A.
Zachor, D.
Sobel, N.
TI An altered olfactory profile in children diagnosed with autism spectrum
disorder
SO JOURNAL OF MOLECULAR NEUROSCIENCE
LA English
DT Meeting Abstract
CT 22nd Annual Meeting of the Israel-Society-for-Neuroscience (ISFN) / 2nd
Bi National Italy-Israel Neuroscience Meeting
CY DEC 14-17, 2013
CL Eilat, ISRAEL
SP Israel Soc Neuroscience
C1 [Rozenkrantz, L.; Heller, I; Plotkin, A.; Weissbrod, A.; Sobel, N.] Weizmann Inst Sci, Dept Neurobiol, IL-76100 Rehovot, Israel.
[Zachor, D.] Autism Ctr, Asaf Harofeh Med Ctr, Zerifin, Israel.
NR 0
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 AUG
PY 2014
VL 53
SU 1
BP S108
EP S109
PG 2
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AN3GN
UT WOS:000340474000288
ER
PT J
AU Valtorta, F
Benfenati, F
AF Valtorta, F.
Benfenati, F.
TI The synapsins: from organization of synaptic terminals to epilepsy,
autism and intellectual disability
SO JOURNAL OF MOLECULAR NEUROSCIENCE
LA English
DT Meeting Abstract
CT 22nd Annual Meeting of the Israel-Society-for-Neuroscience (ISFN) / 2nd
Bi National Italy-Israel Neuroscience Meeting
CY DEC 14-17, 2013
CL Eilat, ISRAEL
SP Israel Soc Neuroscience
C1 [Valtorta, F.] San Raffaele Vita Salute Univ, Milan, Italy.
[Valtorta, F.] Ist Sci San Raffaele, Div Neurosci, I-20132 Milan, Italy.
[Benfenati, F.] Italian Inst Technol, Genoa, Italy.
[Benfenati, F.] Univ Genoa, Sch Med, I-16126 Genoa, Italy.
NR 0
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 AUG
PY 2014
VL 53
SU 1
BP S127
EP S127
PG 1
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AN3GN
UT WOS:000340474000340
ER
PT J
AU Gringras, P
Green, D
Wright, B
Rush, C
Sparrowhawk, M
Pratt, K
Allgar, V
Hooke, N
Moore, D
Zaiwalla, Z
Wiggs, L
AF Gringras, Paul
Green, Dido
Wright, Barry
Rush, Carla
Sparrowhawk, Masako
Pratt, Karen
Allgar, Victoria
Hooke, Naomi
Moore, Danielle
Zaiwalla, Zenobia
Wiggs, Luci
TI Weighted Blankets and Sleep in Autistic Children-A Randomized Controlled
Trial
SO PEDIATRICS
LA English
DT Article
DE autism spectrum disorder; severe sleep problems; weighted blankets;
total sleep time; children
ID DISORDERS; MELATONIN
AB OBJECTIVE: To assess the effectiveness of a weighted-blanket intervention in treating severe sleep problems in children with autism spectrum disorder (ASD).
METHODS: This phase III trial was a randomized, placebo-controlled crossover design. Participants were aged between 5 years and 16 years 10 months, with a confirmed ASD diagnosis and severe sleep problems, refractory to community-based interventions. The interventions were either a commercially available weighted blanket or otherwise identical usual weight blanket (control), introduced at bedtime; each was used for a 2-week period before crossover to the other blanket. Primary outcome was total sleep time (TST) recorded by actigraphy over each 2-week period. Secondary outcomes included actigraphically recorded sleep-onset latency, sleep efficiency, assessments of child behavior, family functioning, and adverse events. Sleep was also measured by using parent-report diaries.
RESULTS: Seventy-three children were randomized and analysis conducted on 67 children who completed the study. Using objective measures, the weighted blanket, compared with the control blanket, did not increase TST as measured by actigraphy and adjusted for baseline TST. There were no group differences in any other objective or subjective measure of sleep, including behavioral outcomes. On subjective preference measures, parents and children favored the weighted blanket.
CONCLUSIONS: The use of a weighted blanket did not help children with ASD sleep for a longer period of time, fall asleep significantly faster, or wake less often. However, the weighted blanket was favored by children and parents, and blankets were well tolerated over this period.
C1 [Gringras, Paul; Rush, Carla; Pratt, Karen] St Thomas Hosp, Evelina Childrens Hosp, London SE1 7EH, England.
[Green, Dido] Oxford Brookes Univ, Ctr Rehabil, Oxford OX3 0BP, England.
[Sparrowhawk, Masako; Allgar, Victoria; Wiggs, Luci] Oxford Brookes Univ, Dept Psychol, Oxford OX3 0BP, England.
[Wright, Barry; Hooke, Naomi; Moore, Danielle] Lime Trees Child & Family Unit, York, N Yorkshire, England.
[Zaiwalla, Zenobia] John Radcliffe Hosp, Dept Clin Neurophysiol, Oxford OX3 9DU, England.
RP Gringras, P (reprint author), St Thomas Hosp, Evelina Childrens Hosp, Lambeth Palace Rd, London SE1 7EH, England.
EM paul.gringras@gstt.nhs.uk
FU Research Autism; Waterloo Foundation; Baily Thomas Charitable Foundation
FX Supported by Research Autism, the Waterloo Foundation, and the Baily
Thomas Charitable Foundation.
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NR 27
TC 1
Z9 1
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 AUG
PY 2014
VL 134
IS 2
BP 298
EP 306
DI 10.1542/peds.2013-4285
PG 9
WC Pediatrics
SC Pediatrics
GA AN0HS
UT WOS:000340266000056
PM 25022743
ER
PT J
AU Maglione, MA
Das, L
Raaen, L
Smith, A
Chari, R
Newberry, S
Shanman, R
Perry, T
Goetz, MB
Gidengil, C
AF Maglione, Margaret A.
Das, Lopamudra
Raaen, Laura
Smith, Alexandria
Chari, Ramya
Newberry, Sydne
Shanman, Roberta
Perry, Tanja
Goetz, Matthew Bidwell
Gidengil, Courtney
TI Safety of Vaccines Used for Routine Immunization of US Children: A
Systematic Review
SO PEDIATRICS
LA English
DT Review
DE evidence-based medicine; vaccine/immunization; infectious disease
ID HUMAN ROTAVIRUS VACCINE; INACTIVATED INFLUENZA VACCINE; MUMPS-RUBELLA
VACCINATION; CONJUGATE VACCINE; DOUBLE-BLIND; DATALINK PROJECT; HEALTHY
INFANTS; UNITED-STATES; THROMBOCYTOPENIC PURPURA; POSTMARKETING
EVALUATION
AB BACKGROUND: Concerns about vaccine safety have led some parents to decline recommended vaccination of their children, leading to the resurgence of diseases. Reassurance of vaccine safety remains critical for population health. This study systematically reviewed the literature on the safety of routine vaccines recommended for children in the United States.
METHODS: Data sources included PubMed, Advisory Committee on Immunization Practices statements, package inserts, existing reviews, manufacturer information packets, and the 2011 Institute of Medicine consensus report on vaccine safety. We augmented the Institute of Medicine report with more recent studies and increased the scope to include more vaccines. Only studies that used active surveillance and had a control mechanism were included. Formulations not used in the United States were excluded. Adverse events and patient and vaccine characteristics were abstracted. Adverse event collection and reporting was evaluated by using the McHarm scale. We were unable to pool results. Strength of evidence was rated as high, moderate, low, or insufficient.
RESULTS: Of 20 478 titles identified, 67 were included. Strength of evidence was high for measles/mumps/rubella (MMR) vaccine and febrile seizures; the varicella vaccine was associated with complications in immunodeficient individuals. There is strong evidence that MMR vaccine is not associated with autism. There is moderate evidence that rotavirus vaccines are associated with intussusception. Limitations of the study include that the majority of studies did not investigate or identify risk factors for AEs; and the severity of AEs was inconsistently reported.
CONCLUSIONS: We found evidence that some vaccines are associated with serious AEs; however, these events are extremely rare and must be weighed against the protective benefits that vaccines provide.
C1 [Maglione, Margaret A.; Das, Lopamudra; Raaen, Laura; Smith, Alexandria; Chari, Ramya; Newberry, Sydne; Shanman, Roberta; Perry, Tanja; Gidengil, Courtney] RAND Corp, Santa Monica, CA 90407 USA.
[Goetz, Matthew Bidwell] Univ Calif Los Angeles, VA Greater Los Angeles Healthcare Syst, Los Angeles, CA USA.
[Goetz, Matthew Bidwell] Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA.
[Gidengil, Courtney] Boston Childrens Hosp, Boston, MA USA.
RP Maglione, MA (reprint author), RAND Corp, 1776 Main St Mailstop 4W, Santa Monica, CA 90407 USA.
EM maglione@rand.org
FU Agency for Healthcare Research and Quality [HHSA290200710062I]; US
Department of Health and Human Services
FX Supported under Contract No. HHSA290200710062I from the Agency for
Healthcare Research and Quality, US Department of Health and Human
Services.
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NR 97
TC 3
Z9 4
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 AUG
PY 2014
VL 134
IS 2
BP 325
EP 337
DI 10.1542/peds.2014-1079
PG 13
WC Pediatrics
SC Pediatrics
GA AN0HS
UT WOS:000340266000059
PM 25086160
ER
PT J
AU Dykens, EM
Fisher, MH
Taylor, JL
Lambert, W
Miodrag, N
AF Dykens, Elisabeth M.
Fisher, Marisa H.
Taylor, Julie Lounds
Lambert, Warren
Miodrag, Nancy
TI Reducing Distress in Mothers of Children With Autism and Other
Disabilities: A Randomized Trial
SO PEDIATRICS
LA English
DT Article
DE autism spectrum disorders; developmental disabilities; maternal stress
and mental health; mindfulness based stress reduction; positive
psychology
ID POSITIVE PSYCHOLOGY INTERVENTIONS; DEVELOPMENTAL-DISABILITIES; PARENTING
STRESS; DEPRESSIVE SYMPTOMS; BEHAVIOR PROBLEMS; INTELLECTUAL DISABILITY;
MENTAL-HEALTH; METAANALYSIS; MINDFULNESS; VALIDATION
AB BACKGROUND: Compared with other parents, mothers of children with autism spectrum disorder or other neurodevelopmental disabilities experience more stress, illness, and psychiatric problems. Although the cumulative stress and disease burden of these mothers is exceptionally high, and associated with poorer outcomes in children, policies and practices primarily serve the identified child with disabilities.
METHODS: A total of 243 mothers of children with disabilities were consented and randomized into either Mindfulness-Based Stress Reduction (mindfulness practice) or Positive Adult Development (positive psychology practice). Well-trained, supervised peer mentors led 6 weeks of group treatments in 1.5-hour weekly sessions, assessing mothers 6 times before, during, and up to 6 months after treatment. Mothers had children with autism (65%) or other disabilities (35%). At baseline, 85% of this community sample had significantly elevated stress, 48% were clinically depressed, and 41% had anxiety disorders.
RESULTS: Using slopes-as-outcomes, mixed random effects models, both treatments led to significant reductions in stress, depression, and anxiety, and improved sleep and life satisfaction, with large effects in depression and anxiety. Mothers in Mindfulness-Based Stress Reduction versus Positive Adult Development had greater improvements in anxiety, depression, sleep, and well-being. Mothers of children with autism spectrum disorder improved less in anxiety, but did not otherwise differ from their counterparts.
CONCLUSIONS: Future studies are warranted on how trained mentors and professionals can address the unmet mental health needs of mothers of children with developmental disabilities. Doing so improves maternal wellbeing and furthers their long-term caregiving of children with complex developmental, physical, and behavioral needs.
C1 [Dykens, Elisabeth M.; Fisher, Marisa H.; Taylor, Julie Lounds; Lambert, Warren] Vanderbilt Univ, Vanderbilt Kennedy Ctr Res Human Dev, Nashville, TN 37203 USA.
[Dykens, Elisabeth M.; Fisher, Marisa H.; Taylor, Julie Lounds; Lambert, Warren] Vanderbilt Univ, Univ Ctr Excellence Dev Disabil, Nashville, TN 37203 USA.
[Dykens, Elisabeth M.] Vanderbilt Univ, Dept Psychol & Human Dev, Nashville, TN 37203 USA.
[Dykens, Elisabeth M.; Taylor, Julie Lounds] Vanderbilt Univ, Dept Pediat, Nashville, TN 37203 USA.
[Dykens, Elisabeth M.] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37203 USA.
[Miodrag, Nancy] Calif State Univ Northridge, Dept Child & Adolescent Dev, Northridge, CA 91330 USA.
RP Dykens, EM (reprint author), Vanderbilt Univ, Vanderbilt Kennedy Ctr, 1 Magnolia Circle,Peabody Box 40, Nashville, TN 37203 USA.
EM Elisabeth.dykens@vanderbilt.edu
FU National Institutes of Health's (NIH) National Center for Complementary
and Alternative Medicine [5RC1AT005612]; NIH's Eunice Kennedy Shriver
National Institute of Child Health and Human Development [P30HD015052];
NIH's National Center for Advancing Translational Sciences
[UL1TR000445]; National Institute of Mental Health [K01MH92598];
National Institutes of Health (NIH)
FX Supported by the National Institutes of Health's (NIH) National Center
for Complementary and Alternative Medicine grant 5RC1AT005612 to the
first author, and used core research services provided by NIH's Eunice
Kennedy Shriver National Institute of Child Health and Human Development
grant P30HD015052 to the Vanderbilt Kennedy Center, and NIH's National
Center for Advancing Translational Sciences award UL1TR000445 to
Vanderbilt University. Dr Taylor's participation was supported by
K01MH92598, National Institute of Mental Health. Funded by the National
Institutes of Health (NIH).
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NR 53
TC 1
Z9 1
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 AUG
PY 2014
VL 134
IS 2
BP E454
EP E463
DI 10.1542/peds.2013-3164
PG 10
WC Pediatrics
SC Pediatrics
GA AN0HS
UT WOS:000340266000017
PM 25049350
ER
PT J
AU Cheak-Zamora, NC
Farmer, JE
Mayfield, WA
Clark, MJ
Marvin, AR
Law, JK
Law, PA
AF Cheak-Zamora, Nancy C.
Farmer, Janet E.
Mayfield, Wayne A.
Clark, Mary J.
Marvin, Alison R.
Law, J. Kiely
Law, Paul A.
TI Health Care Transition Services for Youth With Autism Spectrum Disorders
SO REHABILITATION PSYCHOLOGY
LA English
DT Article
DE autism spectrum disorder; adolescence; health care services; health care
transition
ID UNITED-STATES; NATIONAL-SURVEY; MEDICAL HOME; UNMET NEEDS; DSM-IV;
CHILDREN; ADOLESCENTS; FAMILY; PERSPECTIVES; INDIVIDUALS
AB Objective: Little is known about accessibility to health care transition (HCT) services (HCT) for youth with autism spectrum disorders (ASD). This study examined how often youth with ASD receive HCT services and how access varied by individual, family, and health system characteristics. Method: Questionnaires were completed by 101 parents of youth with ASD (ages 12-17 years) enrolled in a national online autism registry. Descriptive statistics and bivariate analysis were used to examine a composite HCT variable and its components. Results: Fewer than 15% of youth received HCT services. Although 41% received at least 1 HCT discussion, only 3% received all 3. One-quarter had a discussion with their health care provider about transitioning to an adult provider, adult health care needs, or insurance retention, and 31% of providers encouraged youth to take on more responsibilities. Most caregivers reported not needing 1 or more of the discussions. Results varied significantly when the sample was divided by age, with older youth more likely to have received transition services than younger adolescents. Conclusions: These findings indicate a significant disparity in access to HCT services for youth with ASD. Further research is needed to understand this disparity and develop interventions to improve HCT both for youth with ASD and those with other disabling health conditions. Additionally, many caregivers do not recognize the importance of HCT services. Education and training for caregivers, youth, and providers is essential to ensure all parties are working together to address transition issues early and often.
C1 [Cheak-Zamora, Nancy C.] Univ Missouri, Dept Hlth Sci, Columbia, MO 65211 USA.
[Farmer, Janet E.] Univ Missouri, Dept Hlth Psychol, Columbia, MO 65211 USA.
[Mayfield, Wayne A.] Univ Missouri, Off Social & Econ Data Anal, Columbia, MO 65211 USA.
[Clark, Mary J.] Univ Missouri, Atkins Wellness Program, Columbia, MO 65211 USA.
[Marvin, Alison R.; Law, J. Kiely; Law, Paul A.] Kennedy Krieger Inst, Dept Med Informat, Baltimore, MD USA.
[Law, J. Kiely; Law, Paul A.] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21218 USA.
RP Cheak-Zamora, NC (reprint author), Univ Missouri, 510 Clark Hall, Columbia, MO 65211 USA.
EM cheakzamoran@health.missouri.edu
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NR 37
TC 0
Z9 0
PU EDUCATIONAL PUBLISHING FOUNDATION-AMERICAN PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST, NE, WASHINGTON, DC 20002-4242 USA
SN 0090-5550
EI 1939-1544
J9 REHABIL PSYCHOL
JI Rehabil. Psychol.
PD AUG
PY 2014
VL 59
IS 3
BP 340
EP 348
DI 10.1037/a0036725
PG 9
WC Psychology, Clinical; Rehabilitation
SC Psychology; Rehabilitation
GA AN2RH
UT WOS:000340432500011
PM 25019309
ER
PT J
AU Telias, M
Ben-Yosef, D
AF Telias, Michael
Ben-Yosef, Dalit
TI Modeling Neurodevelopmental Disorders Using Human Pluripotent Stem Cells
SO STEM CELL REVIEWS AND REPORTS
LA English
DT Article
DE Human pluripotent stem cells; Neurodevelopmental disorders; Disease
models; Neural differentiation; Electrophysiology
ID FRAGILE-X-SYNDROME; AUTISM SPECTRUM DISORDERS; PRADER-WILLI-SYNDROME;
LESCH-NYHAN-SYNDROME; PREIMPLANTATION GENETIC DIAGNOSIS; NEURAL
PROGENITOR CELLS; IPSC-DERIVED NEURONS; DOWN-SYNDROME; RETT-SYNDROME;
IN-VITRO
AB Neurodevelopmental disorders (NDs) are impairments that affect the development and growth of the brain and the central nervous system during embryonic and early postnatal life. Genetically manipulated animals have contributed greatly to the advancement of ND research, but many of them differ considerably from the human phenotype. Cellular in vitro models are also valuable, but the availability of human neuronal cells is limited and their lifespan in culture is short. Human pluripotent stem cells (hPSCs), including embryonic stem cells and induced pluripotent stem cells, comprise a powerful tool for studying developmentally regulated diseases, including NDs. We reviewed all recent studies in which hPSCs were used as in vitro models for diseases and syndromes characterized by impairment of neurogenesis or synaptogenesis leading to intellectual disability and delayed neurodevelopment. We analyzed their methodology and results, focusing on the data obtained following in vitro neural differentiation and gene expression and profiling of the derived neurons. Electrophysiological recording of action potentials, synaptic currents and response to neurotransmitters is pivotal for validation of the neuronal fate as well as for assessing phenotypic dysfunctions linked to the disease in question. We therefore focused on the studies which included electrophysiological recordings on the in vitro-derived neurons. Finally, we addressed specific issues that are critical for the advancement of this area of research, specifically in providing a reliable human pre-clinical research model and drug screening platform.
C1 [Telias, Michael; Ben-Yosef, Dalit] Tel Aviv Univ, Sackler Fac Med,Wolfe PGD Stem Cell Lab, Dept Cell & Dev Biol, Racine IVF Unit,Lis Matern Hosp, IL-69978 Tel Aviv, Israel.
RP Ben-Yosef, D (reprint author), Tel Aviv Univ, Sackler Fac Med,Wolfe PGD Stem Cell Lab, Dept Cell & Dev Biol, Racine IVF Unit,Lis Matern Hosp, IL-69978 Tel Aviv, Israel.
EM dalitb@tlvmc.gov.il
FU NNE-Teva scholarship; Tel-Aviv Medical Center
FX We thank Prof. Menahem Segal from the Department of Neurobiology at
Weizmann Institute of Science, and Dr. Mira Malcov and Dr. Yael Kalma
from the Wolfe PGD-Stem Cell Lab at Tel-Aviv Sourasky Medical Center,
for critical reading of the manuscript. Esther Eshkol is thanked for
editorial assistance. This study was supported by NNE-Teva scholarship
(M. Telias) and Tel-Aviv Medical Center (D. Ben-Yosef).
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NR 216
TC 2
Z9 2
PU HUMANA PRESS INC
PI TOTOWA
PA 999 RIVERVIEW DRIVE SUITE 208, TOTOWA, NJ 07512 USA
SN 1550-8943
EI 1558-6804
J9 STEM CELL REV REP
JI Stem Cell Rev. Rep.
PD AUG
PY 2014
VL 10
IS 4
BP 494
EP 511
DI 10.1007/s12015-014-9507-2
PG 18
WC Cell & Tissue Engineering; Cell Biology; Medicine, Research &
Experimental
SC Cell Biology; Research & Experimental Medicine
GA AN3SZ
UT WOS:000340510300005
PM 24728983
ER
PT J
AU Balestrieri, E
Pitzianti, M
Matteucci, C
D'Agati, E
Sorrentino, R
Baratta, A
Caterina, R
Zenobi, R
Curatolo, P
Garaci, E
Sinibaldi-Vallebona, P
Pasini, A
AF Balestrieri, Emanuela
Pitzianti, Mariabernarda
Matteucci, Claudia
D'Agati, Elisa
Sorrentino, Roberta
Baratta, Antonia
Caterina, Rosa
Zenobi, Rossella
Curatolo, Paolo
Garaci, Enrico
Sinibaldi-Vallebona, Paola
Pasini, Augusto
TI Human endogenous retroviruses and ADHD
SO WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Human endogenous retrovirus; HERV-H; ADHD; neurodevelopmental diseases;
peripheral blood mononuclear cells
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; RISK-FACTORS; AUTISM;
SCHIZOPHRENIA; PREVALENCE; CHILDREN; GENE; DISCORDANCE; COMORBIDITY;
SYMPTOMS
AB Objectives. Several lines of evidences suggest that human endogenous retroviruses (HERVs) are implicated in the development of many complex diseases with a multifactorial aetiology and a strong heritability, such as neurological and psychiatric diseases. Attention deficit hyperactivity Disorder (ADHD) is a neurodevelopmental disorder that results from a complex interaction of environmental, biological and genetic factors. Our aim was to analyse the expression levels of three HERV families (HERV-H, K and W) in patients with ADHD. Methods. The expression of retroviral mRNAs from the three HERV families was evaluated in peripheral blood mononuclear cells (PBMCs) from 30 patients with ADHD and 30 healthy controls by quantitative RT-PCR. Results. The expression levels of HERV-H are significantly higher in patients with ADHD compared to healthy controls, while there are no differences in the expression levels of HERV-K and W. Conclusions. Since the ADHD aetiology is due to a complex interaction of environmental, biological and genetic factors, HERVs may represent one link among these factors and clinical phenotype of ADHD. A future confirmation of HERV-H overexpression in a larger number of ADHD patients will make possible to identify it as a new parameter for this clinical condition, also contributing to deepen the study on the role of HERVs in the neurodevelopment diseases.
C1 [Balestrieri, Emanuela; Matteucci, Claudia; Sorrentino, Roberta; Zenobi, Rossella; Garaci, Enrico; Sinibaldi-Vallebona, Paola] Univ Roma Tor Vergata, Dept Expt Med & Surg, I-00133 Rome, Italy.
[Pitzianti, Mariabernarda; D'Agati, Elisa; Baratta, Antonia; Caterina, Rosa; Curatolo, Paolo; Pasini, Augusto] Univ Roma Tor Vergata, Unit Child Neurol & Psychiat, Dept Neurosci, I-00133 Rome, Italy.
RP Pasini, A (reprint author), Univ Roma Tor Vergata, Unit Child Neurol & Psychiat, Dept Neurosci, Viale Oxford 81, I-00133 Rome, Italy.
EM pasini@uniroma2.it
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NR 42
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 AUG
PY 2014
VL 15
IS 6
BP 499
EP 504
DI 10.3109/15622975.2013.862345
PG 6
WC Psychiatry
SC Psychiatry
GA AN3GM
UT WOS:000340473900009
PM 24286278
ER
PT J
AU von Morgenstern, SB
Becker, I
Sinzig, J
AF von Morgenstern, Sophie Beyer
Becker, Ingrid
Sinzig, Judith
TI Improvement of facial affect recognition in children and adolescents
with attention-deficit/hyperactivity disorder under methylphenidate
SO ACTA NEUROPSYCHIATRICA
LA English
DT Article
DE ADHD; affect recognition; facial affect recognition; methylphenidate
ID DEFICIT HYPERACTIVITY DISORDER; HIGH-FUNCTIONING ADULTS; EMOTIONAL
EXPRESSIONS; ENDOPHENOTYPE CONCEPT; ADHD; DOPAMINE; AUTISM; MIND; GENE;
PREVALENCE
AB Introduction and Hypothesis: Some authors draw a connection between the dopaminergic pathways and emotional perception. The present study is based on that association and addresses the question whether methylphenidate and the resulting amelioration of the disturbed dopamine metabolism lead to an improvement of the facial affect recognition abilities in children with attention-deficit/hyperactivity disorder (ADHD).
Methods: A computer test was conducted on 21 participants, aged 7-14 years and with a diagnosis of ADHD - some with comorbid oppositional defiant disorder - conducted the FEFA (Frankfurt Test and Training of Facial Affect), a computer test to examine their facial affect recognition abilities. It consists of two subtests, one with faces and one with eye pairs. All participants were tested in a double-blind cross-over study, once under placebo and once under methylphenidate.
Results and Discussion: The collected data showed that methylphenidate leads to amelioration of facial affect recognition abilities, but not on a significant level. Reasons for missing significance may be the small sample size or the fact that there exists some overlapping in cerebral connections and metabolic pathways of the site of action of methylphenidate and the affected dopaminergic areas in ADHD. However, consistent with the endophenotype concept, certain gene locations of the dopaminergic metabolism as both an aetiological factor for ADHD and the deficient facial affect recognition abilities with these individuals were considered. Consulting current literature they were found to be not concordant. Therefore, we conclude that the lacking significance of the methylphenidate affect on facial affect recognition is based on this fact.
C1 [von Morgenstern, Sophie Beyer] Childrens Hosp Dritter Orden, Dept Paediat Surg, Munich, Germany.
[Becker, Ingrid] Univ Cologne, Inst Med Stat Informat & Epidemiol, Munich, Germany.
[Sinzig, Judith] LVR Hosp Bonn, Dept Child & Adolescent Psychiat & Psychotherapy, Bonn, Germany.
RP von Morgenstern, SB (reprint author), Univ Cologne, Dept Child & Adolescent Psychiat & Psychotherapy, Munich, Germany.
EM sophiemorgenstern@hotmail.com
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NR 35
TC 0
Z9 0
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 1601-5215
J9 ACTA NEUROPSYCHIATR
JI Acta Neuropsychiatr.
PD AUG
PY 2014
VL 26
IS 4
BP 202
EP 208
DI 10.1017/neu.2013.55
PG 7
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AM8DR
UT WOS:000340101300002
ER
PT J
AU O'Driscoll, K
Goodwin, H
AF O'Driscoll, Kirsty
Goodwin, Hayley
TI Simple low-cost games and activities for sensorimotor learning: a
sourcebook for ideas for young children including those with Autism,
ADHD, sensory processing disorder and other learning differences.
SO BRITISH JOURNAL OF OCCUPATIONAL THERAPY
LA English
DT Book Review
C1 [O'Driscoll, Kirsty] Univ Essex, Colchester CO4 3SQ, Essex, England.
[Goodwin, Hayley] HPFT, Welwyn Garden City, Herts, England.
RP O'Driscoll, K (reprint author), Univ Essex, Colchester CO4 3SQ, Essex, England.
CR KURTZ LA, 2014, SIMPLE LOW COST GAME
NR 1
TC 0
Z9 0
PU COLL OCCUPATIONAL THERAPISTS LTD
PI SOUTHWARK
PA 106-114 BOROUGH HIGH ST, SOUTHWARK, LONDON SE1 1LB, ENGLAND
SN 0308-0226
EI 1477-6006
J9 BRIT J OCCUP THER
JI Br. J. Occup. Ther.
PD AUG
PY 2014
VL 77
IS 8
BP 434
EP 435
PG 2
WC Rehabilitation
SC Rehabilitation
GA AN1LR
UT WOS:000340345700012
ER
PT J
AU Kyriakopoulou, V
Vatansever, D
Elkommos, S
Dawson, S
McGuinness, A
Allsop, J
Molnar, Z
Hajnal, J
Rutherford, M
AF Kyriakopoulou, Vanessa
Vatansever, Deniz
Elkommos, Samia
Dawson, Sarah
McGuinness, Amy
Allsop, Joanna
Molnar, Zoltan
Hajnal, Joseph
Rutherford, Mary
TI Cortical Overgrowth in Fetuses With Isolated Ventriculomegaly
SO CEREBRAL CORTEX
LA English
DT Article
DE brain; development; magnetic resonance imaging
ID PROGRAMMED CELL-DEATH; IN-UTERO; BRAIN-DEVELOPMENT; GROWTH-PATTERNS;
HUMAN NEOCORTEX; FETAL; CHILDREN; AUTISM; CORTEX; VOLUME
AB Mild cerebral ventricular enlargement is associated with schizophrenia, autism, epilepsy, and attention-deficit/hyperactivity disorder. Fetal ventriculomegaly is the most common central nervous system (CNS) abnormality affecting 1% of fetuses and is associated with cognitive, language, and behavioral impairments in childhood. Neurodevelopmental outcome is partially predictable by the 2-dimensional size of the ventricles in the absence of other abnormalities. We hypothesized that isolated fetal ventriculomegaly is a marker of altered brain development characterized by relative overgrowth and aimed to quantify brain growth using volumetric magnetic resonance imaging (MRI) in fetuses with isolated ventriculomegaly. Fetal brain MRI (1.5 T) was performed in 60 normal fetuses and 65 with isolated ventriculomegaly, across a gestational age range of 22-38 weeks. Volumetric analysis of the ventricles and supratentorial brain structures was performed on 3-dimensional reconstructed datasets. Fetuses with isolated ventriculomegaly had increased brain parenchyma volumes when compared with the control cohort (9.6%, P < 0.0001) with enlargement restricted to the cortical gray matter (17.2%, P = 0.002). The extracerebral cerebrospinal fluid and third and fourth ventricles were also enlarged. White matter, basal ganglia, and thalamic volumes were not significantly different between cohorts. The presence of relative cortical overgrowth in fetuses with ventriculomegaly may represent the neurobiological substrate for cognitive, language, and behavioral deficits in these children.
C1 [Kyriakopoulou, Vanessa; Allsop, Joanna; Hajnal, Joseph; Rutherford, Mary] Kings Coll London, St Thomas Hosp, Ctr Developing Brain Perinatal Imaging & Hlth, London SE1 7EH, England.
[Kyriakopoulou, Vanessa; Vatansever, Deniz; Elkommos, Samia; Dawson, Sarah; McGuinness, Amy; Allsop, Joanna; Hajnal, Joseph; Rutherford, Mary] Kings Coll London, Hammersmith Hosp, Ctr Developing Brain, London SE1 7EH, England.
[Molnar, Zoltan] Univ Oxford, Dept Physiol Anat & Genet, Oxford, England.
RP Rutherford, M (reprint author), Kings Coll London, St Thomas Hosp, Ctr Developing Brain Perinatal Imaging & Hlth, 1st Floor South Wing, London SE1 7EH, England.
EM mary.rutherford@kcl.ac.uk
FU Medical Research Council (UK); Biomedical Research Centre
FX This work was supported by the Medical Research Council (UK) and the
Biomedical Research Centre.
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NR 47
TC 1
Z9 1
PU OXFORD UNIV PRESS INC
PI CARY
PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA
SN 1047-3211
EI 1460-2199
J9 CEREB CORTEX
JI Cereb. Cortex
PD AUG
PY 2014
VL 24
IS 8
BP 2141
EP 2150
DI 10.1093/cercor/bht062
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AM7SL
UT WOS:000340068500015
PM 23508710
ER
PT J
AU Simon, MW
AF Simon, Michael W.
TI Autism Spectrum Disorder: Genetic Versus Environmental
SO CLINICAL PEDIATRICS
LA English
DT Letter
C1 [Simon, Michael W.] Univ Kentucky, Lexington, KY USA.
RP Simon, MW (reprint author), Univ Kentucky, Dept Pediat, Lexington, KY 40506 USA.
EM simonmd@mwsimonmd.com
CR Autism and Developmental Disabilities Monitoring Network Surveillance Year 2008 Principal Investigators Centers for Disease Control and Prevention, 2012, MMWR SURVEILL SUMM, V61, P1
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NR 4
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0009-9228
EI 1938-2707
J9 CLIN PEDIATR
JI Clin. Pediatr.
PD AUG
PY 2014
VL 53
IS 9
BP 917
EP 917
DI 10.1177/0009922814533413
PG 1
WC Pediatrics
SC Pediatrics
GA AM8LD
UT WOS:000340125700020
PM 24803637
ER
PT J
AU Delvin, E
Souberbielle, JC
Viard, JP
Salle, B
AF Delvin, Edgard
Souberbielle, Jean-Claude
Viard, Jean-Paul
Salle, Bernard
TI Role of vitamin D in acquired immune and autoimmune diseases
SO CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES
LA English
DT Review
DE AIDS; autoimmunity; Type 1 diabetes; immunity; multiple sclerosis;
Vitamin D; Vitamin D-2: ergosterol; Vitamin D-3: cholecalciferol
ID RANDOMIZED-CONTROLLED-TRIAL; PLACEBO-CONTROLLED TRIAL; BETA-CELL
FUNCTION; BIOLOGICALLY ACTIVE METABOLITE; REMITTING MULTIPLE-SCLEROSIS;
DEPENDENT DIABETES-MELLITUS; GENOME-WIDE ASSOCIATION; HIV-INFECTED
ADULTS; ALL-CAUSE MORTALITY; D SUPPLEMENTATION
AB Vitamin D has been attributed roles in the pathogenesis and prevention of several diseases such as cancer, cardiovascular disease, multiple sclerosis, diabetes, autism and autoimmune diseases. The concomitant expression of the 25-hydroxyvitamin D-3-1 alpha-hydroxylase and of the vitamin D-3 receptor in animal and human tissues and organs other than bone supports this paradigm. Translated into the clinical field, meta-analyses and systematic reviews have also revealed an association between vitamin D insufficiency or deficiency and non-osseous diseases. Although relying on the large databases, they are diverse in nature and involve participants of varying age and evolving in different environments. Furthermore, they do not allow any analysis of a possible causal relationship between vitamin D supplementation and clinical outcomes. Following a brief historical account, this review addresses these caveats, and gives examples of randomized controlled trials conducted in the fields of acquired immune and autoimmune diseases.
C1 [Delvin, Edgard] McGill Univ, Montreal Childrens Hosp, Dept Med Biochem, Montreal, PQ H3H 1P3, Canada.
[Delvin, Edgard] Univ Montreal, Fac Med, Dept Biochem, Montreal, PQ, Canada.
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NR 164
TC 3
Z9 3
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1040-8363
EI 1549-781X
J9 CRIT REV CL LAB SCI
JI Crit. Rev. Clin. Lab. Sci.
PD AUG
PY 2014
VL 51
IS 4
BP 232
EP 247
DI 10.3109/10408363.2014.901291
PG 16
WC Medical Laboratory Technology
SC Medical Laboratory Technology
GA AN0FN
UT WOS:000340259400003
PM 24813330
ER
PT J
AU King, G
Chiarello, L
AF King, Gillian
Chiarello, Lisa
TI Family-Centered Care for Children With Cerebral Palsy: Conceptual and
Practical Considerations to Advance Care and Practice
SO JOURNAL OF CHILD NEUROLOGY
LA English
DT Review
DE family-centered care; disability; childhood; service delivery; pediatric
neurology
ID AUTISM SPECTRUM DISORDERS; HEALTH-CARE; PEDIATRIC REHABILITATION;
OCCUPATIONAL-THERAPY; AMERICAN-ACADEMY; SERVICE DELIVERY; INTERVENTION;
DISABILITIES; PARENTS; PERSPECTIVES
AB This article focuses on conceptual and practical considerations in family-centered care for children with cerebral palsy and their families. In the last 5 years, there have been important advances in our understanding of the components of family-centered care, and initial attempts to understand the client change processes at play. Recent research elaborates on family-centered care by delving into aspects of family-provider partnership, and applying family-centered principles to organizational service delivery to bring about organizational cultures of family-centered care. Recent research has also begun to consider mediators of client change, and new practice models have been proposed that embrace family-centered principles and illustrate the "art" of practice. Future research directions are discussed, including explorations of causal relationships between family-centered care principles, elements of caregiving practice, client change processes, and child and family outcomes. The meaning of the recent literature for pediatric neurology practice is considered.
C1 [King, Gillian] Bloorview Res Inst, Toronto, ON M4G 1R8, Canada.
[King, Gillian] Univ Toronto, Toronto, ON, Canada.
[Chiarello, Lisa] Drexel Univ, Philadelphia, PA 19104 USA.
RP King, G (reprint author), Bloorview Res Inst, 150 Kilgour Rd, Toronto, ON M4G 1R8, Canada.
EM gking27@uwo.ca
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NR 69
TC 0
Z9 0
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 AUG
PY 2014
VL 29
IS 8
SI SI
BP 1046
EP 1054
DI 10.1177/0883073814533009
PG 9
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AM8ZG
UT WOS:000340167900014
PM 24810084
ER
PT J
AU Spotorno, N
Noveck, IA
AF Spotorno, Nicola
Noveck, Ira A.
TI When Is Irony Effortful?
SO JOURNAL OF EXPERIMENTAL PSYCHOLOGY-GENERAL
LA English
DT Article
DE attitude ascription; language processing; mindreading
ID SPECTRUM QUOTIENT AQ; AUTISM; MIND; METAANALYSIS; COGNITION; CONTEXT;
SAMPLE; BRAIN; SAID
AB Whereas some studies indicate that ironic- as opposed to literal - readings of utterances take longer to process, others indicate that the 2 are processed at comparable speeds. We propose that mindreading processes are at least partly responsible for the mixed results, as we present 3 experiments that include stories having a target utterance with either an Ironic or Literal reading. Experiment 1 replicates earlier findings (Spotorno, Koun, Prado, Van Der Henst, & Noveck, 2012) showing that ironic readings take longer than literal ones when fillers include decoys, stories that call for an ironic remark but present a banal utterance instead and thus diffuse participants' expectations for irony. Starting with Experiment 2, decoys are removed, leading to effects that are arguably revealing of Theory of Mind processes. One is an Early-Late effect, which occurs when ironic utterances are read as readily as literal ones in the 2nd half of an experimental session, creating "mixed" results in the laboratory. In Experiment 3, we further added antecedents before a critical event so that, later, the target utterance would be echoing an explicitly stated thought and would facilitate irony comprehension (Gibbs, 1986; Sperber & Wilson, 1981). Results reveal an Early-Late effect here, too. Further evidence of Theory of Mind activity follows from analyses of participants' Social Skill subscale scores in the Autism-Spectrum Quotient (Baron-Cohen, Wheelwright, Skinner, Martin, & Clubley, 2001). Socially inclined participants are more likely than the socially disinclined to use a story's negative event to portend the arrival of an irony; in contrast, socially disinclined participants appear more reactive than the socially inclined to explicit antecedents.
C1 [Spotorno, Nicola; Noveck, Ira A.] Univ Lyon 1, CNRS, L2C2, F-69622 Villeurbanne, France.
[Noveck, Ira A.] CRFJ, Jerusalem, Israel.
RP Spotorno, N (reprint author), Univ Penn, Perelman Sch Med, Penn Frontotemporal Degenerat Ctr, 3 West Gates,3400 Spruce St, Philadelphia, PA 19104 USA.
EM spotorno@mail.med.upenn.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 47
TC 0
Z9 0
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0096-3445
EI 1939-2222
J9 J EXP PSYCHOL GEN
JI J. Exp. Psychol.-Gen.
PD AUG
PY 2014
VL 143
IS 4
BP 1649
EP 1665
DI 10.1037/a0036630
PG 17
WC Psychology, Experimental
SC Psychology
GA AN0TF
UT WOS:000340296200017
PM 24773194
ER
PT J
AU Green, S
Caplan, B
Baker, B
AF Green, S.
Caplan, B.
Baker, B.
TI Maternal supportive and interfering control as predictors of adaptive
and social development in children with and without developmental delays
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Article
DE control; developmental disabilities; interference; parenting
ID BEHAVIOR PROBLEMS; YOUNG-CHILDREN; INTELLECTUAL DISABILITY; PARENTING
STRESS; COMPETENCE; DIRECTIVENESS; LANGUAGE; INFANTS; MOTHERS; AUTISM
AB Background Parents of children with developmental delays (DD) have been found to use more controlling behaviour with their children than parents of children with typical development (TD). While controlling behaviour is related to poorer developmental outcomes in TD children, there is little research on how it predicts outcomes in DD children. Furthermore, existing research tends to use inconsistent or non-specific definitions of controlling behaviour, often combining parent control which follows the child's goal (e. g. supportive direction) and that which interferes with the child's goal (e. g. interference).
Methods Participants were 200 mother-child dyads observed at child age 3, with follow-up assessments of adaptive behaviour and social skills administered at child ages 5 and 6, respectively. We coded the frequency of both types of controlling behaviour based on mothers' interactions with their children with TD (n = 113) or DD (n = 87) at age 3.
Results Mothers in the DD group used more interfering but not more supportive directive acts compared to mothers in the TD group. Adaptive behaviour was assessed at child age 5 and social skills were assessed at age 6. Higher frequency of supportive directive acts predicted better adaptive functioning for the TD group and better social skills for the DD group. Higher frequency of interfering acts predicted lower adaptive and social skills for children with DD but not with TD.
Conclusions Results are discussed in terms of the differential developmental needs of children with and without DD as well as implications for early intervention.
C1 [Green, S.; Caplan, B.; Baker, B.] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90025 USA.
RP Green, S (reprint author), Univ Calif Los Angeles, Los Angeles, CA 90025 USA.
EM shulamite@ucla.edu
CR Achenbach T. M., 2000, MANUAL CHILD BEHAV C
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Vygotsky Lev Semyonovitch, 1978, MIND SOC DEV HIGHER
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NR 46
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 AUG
PY 2014
VL 58
IS 8
BP 691
EP 703
DI 10.1111/jir.12064
PG 13
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AM7ZI
UT WOS:000340087100001
PM 23865770
ER
PT J
AU Janes, E
Riby, DM
Rodgers, J
AF Janes, E.
Riby, D. M.
Rodgers, J.
TI Exploring the prevalence and phenomenology of repetitive behaviours and
abnormal sensory processing in children with Williams Syndrome
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Article
DE repetitive and restricted behaviours; sensory processing abnormalities;
Williams Syndrome
ID AUTISM SPECTRUM DISORDERS; HYPERACUSIS; INTERVIEW; PHENOTYPE; ANXIETY;
ADULTS; FEARS
AB Background A small amount of research with individuals who have Williams Syndrome (WS) suggests that children with the condition may be vulnerable to sensory processing abnormalities and present with repetitive and restricted behaviours.
Methods Parents of 21 children with WS aged 6-15 years completed a semi-structured interview designed to elicit the form, frequency, impact and developmental course of a range of sensory processing abnormalities and repetitive behaviours.
Results Findings indicate that sensory processing difficulties are predominantly characterised by hypersensitivities, particularly in relation to vestibular, auditory, gustatory and proprioceptive functioning. Parents also reported the presence of a range of restricted and repetitive behaviours, which were often associated with their child's sensory symptoms.
Conclusions This study makes a significant contribution to our understanding of sensory functioning and repetitive behaviours in WS. It also highlights the need for a multidisciplinary assessment of the difficulties experienced by children with the disorder.
C1 [Janes, E.; Rodgers, J.] Newcastle Univ, Inst Neurosci, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
[Riby, D. M.] Univ Durham, Sch Psychol, Durham, Tyne & Wear, England.
RP Rodgers, J (reprint author), Newcastle Univ, Inst Neurosci, Ridley Bldg, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
EM jacqui.rodgers@newcastle.ac.uk
CR Baker AEZ, 2008, J AUTISM DEV DISORD, V38, P867, DOI 10.1007/s10803-007-0459-0
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NR 33
TC 1
Z9 1
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 AUG
PY 2014
VL 58
IS 8
BP 746
EP 757
DI 10.1111/jir.12086
PG 12
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AM7ZI
UT WOS:000340087100005
PM 23962322
ER
PT J
AU Jamal, W
Das, S
Oprescu, IA
Maharatna, K
Apicella, F
Sicca, F
AF Jamal, Wasifa
Das, Saptarshi
Oprescu, Ioana-Anastasia
Maharatna, Koushik
Apicella, Fabio
Sicca, Federico
TI Classification of autism spectrum disorder using supervised learning of
brain connectivity measures extracted from synchrostates
SO JOURNAL OF NEURAL ENGINEERING
LA English
DT Article
DE autism spectrum disorder (ASD); brain connectivity; complex network;
classification; synchrostate
ID SMALL-WORLD NETWORKS; HEAD CIRCUMFERENCE; EEG; SYNCHRONIZATION; CORTEX
AB Objective. The paper investigates the presence of autism using the functional brain connectivity measures derived from electro-encephalogram (EEG) of children during face perception tasks. Approach. Phase synchronized patterns from 128-channel EEG signals are obtained for typical children and children with autism spectrum disorder (ASD). The phase synchronized states or synchrostates temporally switch amongst themselves as an underlying process for the completion of a particular cognitive task. We used 12 subjects in each group (ASD and typical) for analyzing their EEG while processing fearful, happy and neutral faces. The minimal and maximally occurring synchrostates for each subject are chosen for extraction of brain connectivity features, which are used for classification between these two groups of subjects. Among different supervised learning techniques, we here explored the discriminant analysis and support vector machine both with polynomial kernels for the classification task. Main results. The leave one out cross-validation of the classification algorithm gives 94.7% accuracy as the best performance with corresponding sensitivity and specificity values as 85.7% and 100% respectively. Significance. The proposed method gives high classification accuracies and outperforms other contemporary research results. The effectiveness of the proposed method for classification of autistic and typical children suggests the possibility of using it on a larger population to validate it for clinical practice.
C1 [Jamal, Wasifa; Das, Saptarshi; Oprescu, Ioana-Anastasia; Maharatna, Koushik] Univ Southampton, Sch Elect & Comp Sci, Southampton SO17 1BJ, Hants, England.
[Apicella, Fabio; Sicca, Federico] IRCCS Stella Maris Fdn, Pisa, Calambrone, Italy.
RP Jamal, W (reprint author), Univ Southampton, Sch Elect & Comp Sci, Southampton SO17 1BJ, Hants, England.
EM wj4g08@ecs.soton.ac.uk; sd2a11@ecs.soton.ac.uk; io1g10@ecs.soton.ac.uk;
km3@ecs.soton.ac.uk; fabio.apicella@fsm.unipi.it; fsicca@fsm.unipi.it
FU EU - MICHELANGELO project [288241]
FX The work presented in this paper was supported by FP7 EU funded
MICHELANGELO project, Grant Agreement #288241. URL:
www.michelangelo-project.eu/. We are grateful to Professor Filippo
Muratori for his valuable suggestions on this paper.
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NR 50
TC 1
Z9 1
PU IOP PUBLISHING LTD
PI BRISTOL
PA TEMPLE CIRCUS, TEMPLE WAY, BRISTOL BS1 6BE, ENGLAND
SN 1741-2560
EI 1741-2552
J9 J NEURAL ENG
JI J. Neural Eng.
PD AUG
PY 2014
VL 11
IS 4
AR 046019
DI 10.1088/1741-2560/11/4/046019
PG 19
WC Engineering, Biomedical; Neurosciences
SC Engineering; Neurosciences & Neurology
GA AM7KS
UT WOS:000340046500019
PM 24981017
ER
PT J
AU Dalrymple, KA
Fletcher, K
Corrow, S
das Nair, R
Barton, JJS
Yonas, A
Duchaine, B
AF Dalrymple, Kirsten A.
Fletcher, Kimberley
Corrow, Sherryse
das Nair, Roshan
Barton, Jason J. S.
Yonas, Albert
Duchaine, Brad
TI "A room full of strangers every day": The psychosocial impact of
developmental prosopagnosia on children and their families
SO JOURNAL OF PSYCHOSOMATIC RESEARCH
LA English
DT Article
DE Children; Developmental prosopagnosia; Face recognition; Psychosocial;
Social development; Thematic analysis
ID AUTISM-SPECTRUM QUOTIENT; CONGENITAL PROSOPAGNOSIA; FACE RECOGNITION;
VERSION
AB Objective: Individuals with developmental prosopagnosia ('face blindness') have severe face recognition difficulties due to a failure to develop the necessary visual mechanisms for recognizing faces. These difficulties occur in the absence of brain damage and despite normal low-level vision and intellect. Adults with developmental prosopagnosia report serious personal and emotional consequences from their inability to recognize faces, but little is known about the psychosocial consequences in childhood. Given the importance of face recognition in daily life, and the potential for unique social consequences of impaired face recognition in childhood, we sought to evaluate the impact of developmental prosopagnosia on children and their families.
Methods: We conducted semi-structured interviews with 8 children with developmental prosopagnosia and their parents. A battery of face recognition tests was used to confirm the face recognition impairment reported by the parents of each child. We used thematic analysis to develop common themes among the psychosocial experiences of the children and their parents.
Results: Three themes were developed from the child reports: 1) awareness of their difficulties, 2) coping strategies, such as using non-facial cues to identify others, and 3) social implications, such as discomfort in, and avoidance of, social situations. These themes were paralleled by the parent reports and highlight the unique social and practical challenges associated with childhood developmental prosopagnosia.
Conclusion: Our findings indicate a need for increased awareness and treatment of developmental prosopagnosia to help these children manage their face recognition difficulties and to promote their social and emotional wellbeing. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Dalrymple, Kirsten A.; Duchaine, Brad] Dartmouth Coll, Dept Psychol & Brain Sci, Hanover, NH 03755 USA.
[Dalrymple, Kirsten A.] UCL, Inst Cognit Neurosci, London, England.
[Fletcher, Kimberley; Barton, Jason J. S.] Univ British Columbia, Dept Med Neurol, Vancouver, BC V5Z 1M9, Canada.
[Fletcher, Kimberley; Barton, Jason J. S.] Univ British Columbia, Dept Ophthalmol & Visual Sci, Vancouver, BC V5Z 1M9, Canada.
[Fletcher, Kimberley; Barton, Jason J. S.] Univ British Columbia, Dept Psychol, Vancouver, BC V5Z 1M9, Canada.
[Corrow, Sherryse; Yonas, Albert] Univ Minnesota, Inst Child Dev, Minneapolis, MN 55455 USA.
[das Nair, Roshan] Univ Nottingham, Div Rehabil & Ageing, Nottingham NG7 2RD, England.
RP Dalrymple, KA (reprint author), Univ Minnesota, Inst Child Dev, 51 East River Pkwy, Minneapolis, MN 55455 USA.
EM kad@umn.edu
RI Barton, Jason/A-6362-2012
FU Economic and Social Research Council (UK) [RES-062-23-2426]; CIHR
operating grant [MOP-102567]; Eva O. Miller Fellowship; Doctoral
Dissertation Fellowship through the graduate school of the University of
Minnesota; Canada Research Chair grant [950-228984]; Marianne Koerner
Chair in Brain Diseases
FX KAD and BD were supported by an Economic and Social Research Council
(UK) grant (RES-062-23-2426) to BD. KF was supported through a CIHR
operating grant (MOP-102567) to JJSB. SC was supported by the Eva O.
Miller Fellowship and the Doctoral Dissertation Fellowship through the
graduate school of the University of Minnesota. JJSB was supported by a
Canada Research Chair grant (950-228984) and the Marianne Koerner Chair
in Brain Diseases. We would like to thank all the children and families
for their candid responses to our interview questions and for inviting
us into their homes for lengthy assessments.
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NR 26
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0022-3999
EI 1879-1360
J9 J PSYCHOSOM RES
JI J. Psychosomat. Res.
PD AUG
PY 2014
VL 77
IS 2
BP 144
EP 150
DI 10.1016/j.jpsychores.2014.06.001
PG 7
WC Psychiatry
SC Psychiatry
GA AM6YQ
UT WOS:000340012300010
PM 25077856
ER
PT J
AU Larsen, CA
Howard, MT
AF Larsen, C. Aaron
Howard, Michael T.
TI Conserved regions of the DMD 3 ' UTR regulate translation and mRNA
abundance in cultured myotubes
SO NEUROMUSCULAR DISORDERS
LA English
DT Article
DE DMD; Duchenne muscular dystrophy; 3' UTR; 5' UTR; Translational control
ID DUCHENNE MUSCULAR-DYSTROPHY; AUTISM SPECTRUM DISORDER; AUG INITIATOR
CODON; SKELETAL-MUSCLES; UNTRANSLATED REGION; MDX MICE; GLYCOPROTEIN
COMPLEX; MAMMALIAN-CELLS; GENE-EXPRESSION; NONCODING RNAS
AB Duchenne muscular dystrophy (DMD), a severe muscle-wasting disease, is caused by mutations in the DMD gene, which encodes for the protein dystrophin. Its regulation is of therapeutic interest as even small changes in expression of functional dystrophin can significantly impact the severity of DMD. While tissue-specific distribution and transcriptional regulation of several DMD mRNA isoforms has been well characterized, the post-transcriptional regulation of dystrophin synthesis is not well understood. Here, we utilize qRTPCR and a quantitative dual-luciferase reporter assay to examine the effects of isoform specific DMD 5' UTRs and the highly conserved DMD 3' UTR on mRNA abundance and translational control of gene expression in C2C12 cells. The 5' UTRs were shown to initiate translation with low efficiency in both myoblasts and myotubes. Whereas, two large highly conserved elements in the 3' UTR, which overlap the previously described Lemaire A and D regions, increase mRNA levels and enhance translation upon differentiation of myoblasts into myotubes. The results presented here implicate an important role for DMD UTRs in dystrophin expression and delineate the cis-acting elements required for the myotube-specific regulation of steady-state mRNA levels and translational enhancer activity found in the DMD 3' UTR. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Larsen, C. Aaron; Howard, Michael T.] Univ Utah, Dept Human Genet, Salt Lake City, UT USA.
RP Howard, MT (reprint author), Eccles Inst Human Genet, Room 7110,15 N 2030 East, Salt Lake City, UT 84112 USA.
EM mhoward@genetics.utah.edu
FU National Institutes of Health [NS083884]
FX We thank Chris Anderson and Norma Wills for technical assistance, and
Drs. Kevin Flanigan (Ohio State University) and Robert Weiss (University
of Utah) for comments and suggestions on this work. This work was
supported in part by the National Institutes of Health NS083884 to MTH.
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NR 78
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0960-8966
EI 1873-2364
J9 NEUROMUSCULAR DISORD
JI Neuromusc. Disord.
PD AUG
PY 2014
VL 24
IS 8
BP 693
EP 706
DI 10.1016/j.nmd.2014.05.006
PG 14
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AN1BH
UT WOS:000340317200007
PM 24928536
ER
PT J
AU Cheng, TL
Qiu, ZL
AF Cheng, Tian-Lin
Qiu, Zilong
TI MeCP2: multifaceted roles in gene regulation and neural development
SO NEUROSCIENCE BULLETIN
LA English
DT Review
DE MeCP2; Rett syndrome; central nervous system; gene expression
regulation; post-translational modification; post-transcriptional
regulation; glia
ID CPG-BINDING PROTEIN; RETT-SYNDROME PHENOTYPES; DNA METHYLATION; MOUSE
MODEL; TRANSCRIPTIONAL REPRESSION; DEPENDENT PHOSPHORYLATION;
CHROMOSOMAL PROTEIN; BDNF TRANSCRIPTION; DENDRITIC GROWTH; NONCODING
RNAS
AB Methyl-CpG-binding protein 2 (MeCP2) is a classic methylated-DNA-binding protein, dysfunctions of which lead to various neurodevelopmental disorders such as Rett syndrome and autism spectrum disorder. Initially recognized as a transcriptional repressor, MeCP2 has been studied extensively and its functions have been expanded dramatically in the past two decades. Recently, it was found to be involved in gene regulation at the post-transcriptional level. MeCP2 represses nuclear microRNA processing by interacting directly with the Drosha/DGCR8 complex. In addition to its multifaceted functions, MeCP2 is remarkably modulated by posttranslational modifications such as phosphorylation, SUMOylation, and acetylation, providing more regulatory dimensions to its functions. The role of MeCP2 in the central nervous system has been studied extensively, from neurons to glia. Future investigations combining molecular, cellular, and physiological methods are necessary for defining the roles of MeCP2 in the brain and developing efficient treatments for MeCP2-related brain disorders.
C1 [Cheng, Tian-Lin; Qiu, Zilong] Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China.
RP Cheng, TL (reprint author), Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China.
EM tlcheng@ion.ac.cn
FU National Basic Research Development Program of China [2011CBA00400];
Strategic Priority Research Program of the Chinese Academy of Science,
China [XDB02050400]
FX This review was supported by the National Basic Research Development
Program of China (2011CBA00400), and the Strategic Priority Research
Program of the Chinese Academy of Science, China (XDB02050400).
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PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1673-7067
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DT Editorial Material
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PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
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JI Neuroscientist
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VL 20
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WC Clinical Neurology; Neurosciences
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PI THOUSAND OAKS
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SN 1073-8584
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J9 NEUROSCIENTIST
JI Neuroscientist
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SC Neurosciences & Neurology
GA AM8NM
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PT J
AU Tansey, KE
Rucker, JJH
Kavanagh, DH
Guipponi, M
Perroud, N
Bondolfi, G
Domenici, E
Evans, DM
Hausers, J
Henigsberg, N
Jerman, B
Maier, W
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O'Donovan, M
Peters, TJ
Placentino, A
Rietschel, M
Souery, D
Aitchison, KJ
Craig, I
Farmer, A
Wendland, JR
Malafosse, A
Lewis, G
Kapur, S
McGuffin, P
Uher, R
AF Tansey, K. E.
Rucker, J. J. H.
Kavanagh, D. H.
Guipponi, M.
Perroud, N.
Bondolfi, G.
Domenici, E.
Evans, D. M.
Hausers, J.
Henigsberg, N.
Jerman, B.
Maier, W.
Mors, O.
O'Donovan, M.
Peters, T. J.
Placentino, A.
Rietschel, M.
Souery, D.
Aitchison, K. J.
Craig, I.
Farmer, A.
Wendland, J. R.
Malafosse, A.
Lewis, G.
Kapur, S.
McGuffin, P.
Uher, R.
TI Copy number variants and therapeutic response to antidepressant
medication in major depressive disorder
SO PHARMACOGENOMICS JOURNAL
LA English
DT Article
DE antidepressant; copy number variants; major depressive disorder;
psychiatry; treatment response; 15q13.3
ID HIDDEN-MARKOV MODEL; SNP GENOTYPING DATA; DE-NOVO CNVS;
BIPOLAR-DISORDER; SCHIZOPHRENIA; AUTISM; DUPLICATIONS; ASSOCIATION;
DELETIONS
AB It would be beneficial to find genetic predictors of antidepressant response to help personalise treatment of major depressive disorder (MDD). Rare copy number variants (CNVs) have been implicated in several psychiatric disorders, including MDD, but their role in antidepressant response has yet to be investigated. CNV data were available for 1565 individuals with MDD from the NEWMEDS (Novel Methods leading to New Medications in Depression and Schizophrenia) consortium with prospective data on treatment outcome with either a serotonergic or noradrenergic antidepressant. No association was seen between the presence of CNV (rare or common), the overall number of CNVs or genomic CNV 'burden' and antidepressant response. Specific CNVs were nominally associated with antidepressant response, including 15q13.3 duplications and exonic NRXN1 deletions. These were associated with poor response to antidepressants. Overall burden of CNVs is unlikely to contribute to personalising antidepressant treatment. Specific CNVs associated with antidepressant treatment require replication and further study to confirm their role in the therapeutic action of antidepressant.
C1 [Tansey, K. E.; Rucker, J. J. H.; Aitchison, K. J.; Craig, I.; Farmer, A.; Kapur, S.; McGuffin, P.; Uher, R.] Kings Coll London, Inst Psychiat, London SE5 8AF, England.
[Kavanagh, D. H.; O'Donovan, M.] Cardiff Univ, Sch Med, Dept Psychol Med & Neurol, MRC,Ctr Neuropsychiat Genet & Genom, Cardiff CF10 3AX, S Glam, Wales.
[Guipponi, M.; Malafosse, A.] Univ Hosp Geneva, Dept Genet Med & Labs, Geneva, Switzerland.
[Perroud, N.; Bondolfi, G.; Malafosse, A.] Univ Geneva, Dept Psychiat, Geneva, Switzerland.
[Perroud, N.; Bondolfi, G.] Univ Hosp Geneva, Dept Mental Hlth & Psychiat, Geneva, Switzerland.
[Domenici, E.] F Hoffmann La Roche & Co Ltd, Pharma Res & Early Dev, CH-4002 Basel, Switzerland.
[Evans, D. M.] Univ Bristol, Sch Social & Community Med, MRC CAiTE Ctr, Bristol, Avon, England.
[Hausers, J.] Poznan Univ Med Sci, Lab Psychiat Genet, Poznan, Poland.
[Henigsberg, N.] Univ Zagreb, Sch Med, Croatian Inst Brain Res, Zagreb 41001, Croatia.
[Jerman, B.] Jozef Stefan Inst, Dept Mol & Biomed Sci, Ljubljana, Slovenia.
[Jerman, B.] Inst Publ Hlth Republ Slovenia, Ljubljana, Slovenia.
[Maier, W.] Univ Bonn, Dept Psychiat, Bonn, Germany.
[Mors, O.] Aarhus Univ Hosp, Res Dept P, Risskov, Denmark.
[Peters, T. J.] Univ Bristol, Sch Clin Sci, Bristol, Avon, England.
[Placentino, A.] Spedali Civili Hosp, Dept Mental Hlth, Psychiat Unit 23, Brescia, Italy.
[Placentino, A.] Ctr San Giovanni di Dio Fatebenefratelli, Biol Psychiat Unit, Brescia, Italy.
[Rietschel, M.] Heidelberg Univ, Med Fac Mannheim, Cent Inst Mental Hlth, Dept Genet Epidemiol Psychiat, Heidelberg, Germany.
[Souery, D.] Univ Libre Brussels, Erasme Acad Hosp, Dept Psychiat, Brussels, Belgium.
[Aitchison, K. J.] Univ Alberta, Dept Psychiat, Edmonton, AB, Canada.
[Wendland, J. R.] Pfizer, Worldwide R&D, Cambridge, MA USA.
[Lewis, G.] Univ Bristol, Sch Social & Community Med, Bristol, Avon, England.
[Uher, R.] Dalhousie Univ, Dept Psychiat, Halifax, NS, Canada.
RP Tansey, KE (reprint author), Kings Coll London, Inst Psychiat, P080,16 De Crespigny Pk, London SE5 8AF, England.
EM katherine.tansey@kcl.ac.uk
RI Tansey, Katherine/B-1033-2013; Aitchison, Katherine/G-4476-2013; Lewis,
Glyn/E-9944-2012
OI Tansey, Katherine/0000-0002-9663-3376; Aitchison,
Katherine/0000-0002-1107-3024; Lewis, Glyn/0000-0001-5205-8245
FU Wellcome Trust [086635]; Innovative Medicine Initiative Joint
Undertaking (IMI-JU) [115008]; European Federation of Pharmaceutical
Industries and Associations (EFPIA); European Union; European
Commission, EC [LSHB-CT-2003-503428]; UK National Institute for Health
Research of the Department of Health; UK Medical Research Council (MRC,
UK); GlaxoSmithKline [G0701420]; Medical Research Council (MRC, UK);
Mental Health Research Network; Canada Research Chair program;
Wyeth-Lederle; Bristol-Myers-Squibb; Sanofi Aventis
FX The funders had no role in study design, data collection and analysis,
decision to publish or preparation of the manuscript. The research
leading to these results has received support from the Innovative
Medicine Initiative Joint Undertaking (IMI-JU) under Grant agreement no.
115008 of which resources are composed of European Union and the
European Federation of Pharmaceutical Industries and Associations
(EFPIA) in-kind contribution and financial contribution from the
European Union's Seventh Framework Programme (FP7/2007-2013). EFPIA
members Pfizer, Glaxo Smith Kline and F. Hoffmann La-Roche have
contributed work and samples to the project presented here. GENDEP was
funded by the European Commission Framework 6 grant, EC Contract Ref.:
LSHB-CT-2003-503428. Lundbeck provided nortriptyline and escitalopram
for the GENDEP study. GlaxoSmithKline and the UK National Institute for
Health Research of the Department of Health contributed to the funding
of the sample collection at the Institute of Psychiatry, London. GENDEP
genotyping was funded by a joint grant from the UK Medical Research
Council (MRC, UK) and GlaxoSmithKline (G0701420). GenPod was funded by
the Medical Research Council (MRC, UK) and supported by the Mental
Health Research Network. GODS study was partly supported by external
funding provided by the Swiss branches of the following pharmaceutical
companies: GlaxoSmithKline, Wyeth-Lederle, Bristol-Myers-Squibb and
Sanofi Aventis. RU is supported by the Canada Research Chair program
(http://www.chairs-chaires.gc.ca/). JR was supported by a fellowship
from the Wellcome Trust (086635).
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Z9 1
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1470-269X
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GA AM9QL
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PM 24445990
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PT J
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Sporns, O
Smith, LB
AF Byrge, Lisa
Sporns, Olaf
Smith, Linda B.
TI Developmental process emerges from extended brain-body-behavior networks
SO TRENDS IN COGNITIVE SCIENCES
LA English
DT Review
DE development; brain networks; connectivity; embodiment; dynamic system
ID STATE FUNCTIONAL CONNECTIVITY; WHITE-MATTER; LONG-TERM; STRUCTURAL
CONNECTIVITY; AUTISM SPECTRUM; CHILDREN; INFANTS; EXPERIENCE; ALTERS;
MODEL
AB Studies of brain connectivity have focused on two modes of networks: structural networks describing neuroanatomy and the intrinsic and evoked dependencies of functional networks at rest and during tasks. Each mode constrains and shapes the other across multiple timescales and each also shows age-related changes. Here we argue that understanding how brains change across development requires understanding the interplay between behavior and brain networks: changing bodies and activities modify the statistics of inputs to the brain; these changing inputs mold brain networks; and these networks, in turn, promote further change in behavior and input.
C1 [Byrge, Lisa; Sporns, Olaf; Smith, Linda B.] Indiana Univ, Bloomington, IN 47405 USA.
RP Byrge, L (reprint author), Indiana Univ, 1101 E 10th St, Bloomington, IN 47405 USA.
EM lbyrge@indiana.edu
FU National Science Foundation Graduate Research Fellowship; Integrative
Graduate Education and Research Training Program in the Dynamics of
Brain-Body-Environment Systems at Indiana University; J.S. McDonnell
Foundation; National Institute of Child Health and Human Development
[R01HD28675, R21HD068475]
FX L.B. was supported by the National Science Foundation Graduate Research
Fellowship and Integrative Graduate Education and Research Training
Program in the Dynamics of Brain-Body-Environment Systems at Indiana
University. O.S. was supported by the J.S. McDonnell Foundation. L.B.S.
was supported in part by National Institute of Child Health and Human
Development grants R01HD28675 and R21HD068475. The authors thank Gregory
Kohn and Dan Kennedy for valuable feedback.
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NR 108
TC 1
Z9 1
PU ELSEVIER SCIENCE LONDON
PI LONDON
PA 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND
SN 1364-6613
J9 TRENDS COGN SCI
JI TRENDS COGN. SCI.
PD AUG
PY 2014
VL 18
IS 8
BP 395
EP 403
DI 10.1016/j.tics.2014.04.010
PG 9
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AN1EH
UT WOS:000340325000006
PM 24862251
ER
PT J
AU Paylor, B
Longstaff, H
Rossi, F
Illes, J
AF Paylor, Ben
Longstaff, Holly
Rossi, Fabio
Illes, Judy
TI Collision or convergence? Beliefs and politics in neuroscience
discovery, ethics, and intervention
SO TRENDS IN NEUROSCIENCES
LA English
DT Editorial Material
DE neurological disease; health policy; public opinion; Terri Schiavo; Gulf
War syndrome; MMR vaccine; autism; chronic cerebrospinal vascular
insufficiency (CCSVI); multiple sclerosis; Stamina Foundation
ID SCIENCE
AB Discovery and interventions for neurological disorders have a unique capacity to galvanize public opinion over issues of access, human rights, decision making, and the definition of disease. Here we highlight five cases where beliefs and politics prevailed over evidence and ethics. We examine lessons from them about the communication of risk and the power of public influence on science, society, and policy.
C1 [Paylor, Ben; Rossi, Fabio] Univ British Columbia, Ctr Biomed Res, Vancouver, BC V6T 1Z3, Canada.
[Longstaff, Holly; Illes, Judy] Univ British Columbia Hosp, Dept Med, Div Neurol, Natl Core Neuroeth, Vancouver, BC V6T 2B5, Canada.
RP Illes, J (reprint author), Univ British Columbia Hosp, Dept Med, Div Neurol, Natl Core Neuroeth, 2211 Wesbrook Mall, Vancouver, BC V6T 2B5, Canada.
EM jilles@mail.ubc.ca
FU Canadian Institutes of Health Research; Stem Cell Network; MS Society of
Canada; Heart and Stroke Foundation of Canada; Vancouver Coastal Health
Research Institute
FX JI is Canada Research Chair in Neuroethics. This work is supported by
the Canadian Institutes of Health Research, the Stem Cell Network, the
MS Society of Canada and the Heart and Stroke Foundation of Canada, and
Vancouver Coastal Health Research Institute.
CR Bianco P, 2013, EMBO J, V32, P1489, DOI 10.1038/emboj.2013.114
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NR 14
TC 0
Z9 0
PU ELSEVIER SCIENCE LONDON
PI LONDON
PA 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND
SN 0166-2236
J9 TRENDS NEUROSCI
JI Trends Neurosci.
PD AUG
PY 2014
VL 37
IS 8
BP 409
EP 412
DI 10.1016/j.tins.2014.06.001
PG 4
WC Neurosciences
SC Neurosciences & Neurology
GA AN0VU
UT WOS:000340302900001
PM 25086860
ER
PT J
AU Baecker, T
Mangus, K
Pfaender, S
Chhabra, R
Boeckers, TM
Grabrucker, AM
AF Baecker, Tanja
Mangus, Katharina
Pfaender, Stefanie
Chhabra, Resham
Boeckers, Tobias M.
Grabrucker, Andreas M.
TI Loss of COMMD1 and copper overload disrupt zinc homeostasis and
influence an autism-associated pathway at glutamatergic synapses
SO BIOMETALS
LA English
DT Article
DE ProSAP; ASD; Shank3; Shank2; COMMD1; Zn2+; Synapse; PSD; Cu2+
ID COPY-NUMBER VARIATION; SPECTRUM DISORDERS; POSTSYNAPTIC DENSITY; MUTUAL
ANTAGONISM; TRACE-ELEMENTS; DE-NOVO; SHANK3; METALLOTHIONEIN; MUTATIONS;
GENE
AB Recent studies suggest that synaptic pathology in autism spectrum disorder (ASD) might be caused by the disruption of a signaling pathway at excitatory glutamatergic synapses, which can be influenced by environmental factors. Some factors, such as prenatal zinc deficiency, dysfunction of metallothioneins as well as deletion of COMMD1, all affect brain metal-ion homeostasis and have been associated with ASD. Given that COMMD1 regulates copper levels and that copper and zinc have antagonistic properties, here, we followed the idea that copper overload might induce a local zinc deficiency affecting key players of a putative ASD pathway such as ProSAP/Shank proteins as reported before. Our results show that increased copper levels indeed interfere with intracellular zinc concentrations and affect synaptic ProSAP/Shank levels, which similarly are altered by manipulation of copper and zinc levels through overexpression and knockdown of COMMD1. In line with this, acute and prenatal copper overload lead to local zinc deficiencies in mice. Pups exposed to prenatal copper overload furthermore show a reduction in ProSAP/Shank protein levels in the brain as well as a decreased NMDAR subunit 1 concentration. Thus, it might be likely that brain metal ion status influences a distinct pathway in excitatory synapses associated with genetic forms of ASD.
C1 [Baecker, Tanja; Mangus, Katharina; Chhabra, Resham; Grabrucker, Andreas M.] Univ Ulm, Dept Neurol, WG Mol Anal Synaptopathies, Neuroctr, D-89081 Ulm, Germany.
[Pfaender, Stefanie; Boeckers, Tobias M.; Grabrucker, Andreas M.] Univ Ulm, Inst Anat & Cell Biol, D-89081 Ulm, Germany.
RP Grabrucker, AM (reprint author), Univ Ulm, Dept Neurol, WG Mol Anal Synaptopathies, Neuroctr, Albert Einstein Allee 11, D-89081 Ulm, Germany.
EM andreas.grabrucker@uni-ulm.de
FU Baustein 3.2 [L.SBN.0083]; DAAD
FX AMG is supported by Baustein 3.2 (L.SBN.0083) and the DAAD. SP and RC
are members of the international graduate school in molecular medicine
of Ulm University.
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NR 54
TC 1
Z9 1
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0966-0844
EI 1572-8773
J9 BIOMETALS
JI Biometals
PD AUG
PY 2014
VL 27
IS 4
BP 715
EP 730
DI 10.1007/s10534-014-9764-1
PG 16
WC Biochemistry & Molecular Biology
SC Biochemistry & Molecular Biology
GA AM5EJ
UT WOS:000339878700012
PM 25007851
ER
PT J
AU Torjesen, I
McDonald, L
Jones, I
AF Torjesen, I
McDonald, Liz
Jones, Ian
TI Depression and SSRI use in pregnancy associated with traits of autism in
children (vol 349, g4835, 2014)
SO BMJ-BRITISH MEDICAL JOURNAL
LA English
DT Correction
C1 [McDonald, Liz; Jones, Ian] Royal Coll Psychiatrists, London SW1X 8PG, England.
CR Torjesen Ingrid, 2014, BMJ, V349, pg4835, DOI 10.1136/bmj.g4835
NR 1
TC 0
Z9 0
PU BMJ PUBLISHING GROUP
PI LONDON
PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
SN 1756-1833
J9 BMJ-BRIT MED J
JI BMJ-British Medical Journal
PD AUG 1
PY 2014
VL 349
AR g4989
DI 10.1136/bmj.g4989
PG 1
WC Medicine, General & Internal
SC General & Internal Medicine
GA AM5OF
UT WOS:000339909000009
ER
PT J
AU Harvey, L
Boksa, P
AF Harvey, Louise
Boksa, Patricia
TI Additive effects of maternal iron deficiency and prenatal immune
activation on adult behaviors in rat offspring
SO BRAIN BEHAVIOR AND IMMUNITY
LA English
DT Article
DE Prenatal infection; Maternal immune activation; Maternal iron
deficiency; Behavior; Schizophrenia; Autism; Maternal diet
ID NEUROCHEMICAL PROFILE; VENTRAL HIPPOCAMPUS; BACTERIAL-ENDOTOXIN;
BRAIN-DEVELOPMENT; SCHIZOPHRENIA; PREGNANCY; INFECTION; MICE; ALTERS;
ANEMIA
AB Both iron deficiency (ID) and infection are common during pregnancy and studies have described altered brain development in offspring as a result of these individual maternal exposures. Given their high global incidence, these two insults may occur simultaneously during pregnancy. We recently described a rat model which pairs dietary ID during pregnancy and prenatal immune activation. Pregnant rats were placed on iron sufficient (IS) or ID diets from embryonic day 2 (E2) until postnatal day 7, and administered the bacterial endotoxin, lipopolysaccharide (LPS) or saline on E15/16. In this model, LPS administration on E15 caused greater induction of the pro-inflammatory cytokines, interleukin-6 and tumor necrosis factor-alpha, in ID dams compared to IS dams. This suggested that the combination of prenatal immune activation on a background of maternal ID might have more adverse neurodevelopmental consequences for the offspring than exposure to either insult alone. In this study we used this model to determine whether combined exposure to maternal ID and prenatal immune activation interact to affect juvenile and adult behaviors in the offspring. We assessed behaviors relevant to deficits in humans or animals that have been associated with exposure to either maternal ID or prenatal immune activation alone. Adult offspring from ID dams displayed significant deficits in pre-pulse inhibition of acoustic startle and in passive avoidance learning, together with increases in cytochrome oxidase immunohistochemistry, a marker of metabolic activity, in the ventral hippocampus immediately after passive avoidance testing. Offspring from LPS treated dams showed a significant increase in social behavior with unfamiliar rats, and subtle locomotor changes during exploration in an open field and in response to amphetamine. Surprisingly, there was no interaction between effects of the two insults on the behaviors assessed, and few observed alterations in juvenile behavior. Our findings show that long-term effects of maternal ID and prenatal LPS were additive, such that offspring exposed to both insults displayed more adult behavioral abnormalities than offspring exposed to one alone. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Harvey, Louise; Boksa, Patricia] McGill Univ, Douglas Mental Hlth Univ Inst, Dept Psychiat, Verdun, PQ H4H IR3, Canada.
RP Boksa, P (reprint author), McGill Univ, Douglas Mental Hlth Univ Inst, Dept Psychiat, 6875 Salle Blvd, Verdun, PQ H4H IR3, Canada.
EM patricia.boksa@mcgill.ca
FU Canadian Institutes of Health Research
FX We would like to thank Ying Zhang for technical assistance with the
cytochrome oxidase histochemistry and Dominique Nouel for technical
assistance with brain collection. This work was supported financially by
the Canadian Institutes of Health Research.
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NR 60
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 0889-1591
EI 1090-2139
J9 BRAIN BEHAV IMMUN
JI Brain Behav. Immun.
PD AUG
PY 2014
VL 40
BP 27
EP 37
DI 10.1016/j.bbi.2014.06.005
PG 11
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA AL9JW
UT WOS:000339458400004
PM 24930842
ER
PT J
AU Giovanoli, S
Weber, L
Meyer, U
AF Giovanoli, Sandra
Weber, Liz
Meyer, Urs
TI Single and combined effects of prenatal immune activation and
peripubertal stress on parvalbumin and reelin expression in the
hippocampal formation
SO BRAIN BEHAVIOR AND IMMUNITY
LA English
DT Article
DE Animal model; Autism; Cytokines; GABA; Infection; Inflammation; Stress;
Schizophrenia
ID BIPOLAR DISORDER; ANIMAL-MODEL; SCHIZOPHRENIA; BRAIN; DYSREGULATION;
INTERNEURONS; PREGNANCY; MICE; PATHOPHYSIOLOGY; INFLAMMATION
AB Exposure to prenatal infection and traumatizing experiences in peripubertal life are two environmental risk factors for developmental neuropsychiatric disorders. Modeling the cumulative neuronal impact of these factors in a translational animal model has led to the recent identification of pathological interactions between these environmental adversities in the development of adult brain dysfunctions. The present study explored the consequences of combined prenatal immune challenge and peripubertal stress on discrete cellular abnormalities in the gamma-aminobutyric acid (GABA) system of the hippocampus. Pregnant mice were treated with the viral mimetic poly(I:C) (=polyriboinosinic-polyribocytidilic add) or control solution, and offspring born to poly(I:C)-exposed or control mothers were then left undisturbed or subjected to unpredictable sub-chronic stress during peripubertal development. Stereological estimations of parvalbumin-expressing cells revealed a significant reduction of these GABAergic interneurons in the ventral dentate gyrus of adult offspring exposed to combined immune activation and stress. Single exposure to either environmental factor was insufficient to cause similar neuropathology. We further found that peripubertal stress exerted opposite effects on reelin-immunoreactive cells in the dorsal cornu ammonis (CA) region of the hippocampus, with stress increasing and decreasing reelin expression in control offspring and prenatally immune challenged animals, respectively. The present data suggest that the combination of two environmental risk factors, which have each been implicated in the etiology of major neuropsychiatric disease, induces significant but restricted neuropathological effects on hippocampal GABAergic cell populations known to be affected in brain disorders with neurodevelopmental components. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Giovanoli, Sandra; Weber, Liz; Meyer, Urs] Swiss Fed Inst Technol, Physiol & Behav Lab, CH-8603 Schwerzenbach, Switzerland.
RP Meyer, U (reprint author), Swiss Fed Inst Technol, Physiol & Behav Lab, Schorenstr 16, CH-8603 Schwerzenbach, Switzerland.
EM urmeyer@ethz.ch
FU European Union's (EU) Seventh Framework Programme (FP7) [259679]; Swiss
National Science Foundation [310030_146217/1]
FX The present study was supported by The European Union's (EU) Seventh
Framework Programme (FP7/2007-2011) under grant agreement No. 259679 and
by the Swiss National Science Foundation (grant 310030_146217/1) awarded
to U.M.
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NR 40
TC 4
Z9 4
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0889-1591
EI 1090-2139
J9 BRAIN BEHAV IMMUN
JI Brain Behav. Immun.
PD AUG
PY 2014
VL 40
BP 48
EP 54
DI 10.1016/j.bbi.2014.04.005
PG 7
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA AL9JW
UT WOS:000339458400007
PM 24859043
ER
PT J
AU Fujiwara, T
Kasahara, M
Tsujii, H
Okuyama, M
AF Fujiwara, Takeo
Kasahara, Mari
Tsujii, Hiromi
Okuyama, Makiko
TI Association of maternal developmental disorder traits with child
mistreatment: A prospective study in Japan
SO CHILD ABUSE & NEGLECT
LA English
DT Article
DE Autism Spectrum Disorder; Pervasive Developmental Disorder; Attention
Deficit Hyperactivity Disorder; Child Abuse; Child maltreatment; Mental
health
ID RISK-FACTORS; SUBSTANCE-ABUSE; MALTREATMENT; SAMPLE; NEGLECT;
POPULATION; PREVALENCE; VIOLENCE; PARENTS; MOTHERS
AB Maternal mental disorders are known risk factors for child mistreatment. However, little is known about the involvement of maternal developmental disorder traits. The aim of this study was to examine maternal traits related to Pervasive Developmental Disorder (PDD) and Attention Deficit Hyperactivity Disorder (ADHD), and their possible association with child mistreatment. Maternal PDD and ADHD were assessed through a self-administered questionnaire (N = 846) during mid-pregnancy using the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS) and Adult ADHD Self-Report Scale (ASRS). The mothers completed another questionnaire on child mistreatment when the offspring was approximately 18 months of age. The associations between maternal PDD and ADHD traits and child mistreatment score were analyzed using linear regression models adjusted for covariates. Mothers who exhibited stronger PDD traits showed significantly higher child mistreatment score, even after adjustment for maternal characteristics at baseline and ADHD traits. At the same time, ADHD traits were significantly associated with child mistreatment after adjustment of covariates, although the association became non-significant after adjustment of PDD traits. Mothers who showed PDD and ADHD traits during pregnancy were more likely to mistreat their children. It is essential to educate mothers with such traits with appropriate, easy-to-follow childcare instructions, preferably in simple language combined with pictorial aids. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Fujiwara, Takeo] Natl Res Inst Child Hlth & Dev, Dept Social Med, Setagaya Ku, Tokyo, Japan.
[Kasahara, Mari] Komagino Hosp, Dept Psychiat, Hachioji, Tokyo, Japan.
[Tsujii, Hiromi; Okuyama, Makiko] Natl Ctr Child Hlth & Dev, Dept Psychosocial Med, Setagaya Ku, Tokyo, Japan.
RP Fujiwara, T (reprint author), Natl Res Inst Child Hlth & Dev, Dept Social Med, Setagaya Ku, Tokyo, Japan.
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NR 32
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0145-2134
EI 1873-7757
J9 CHILD ABUSE NEGLECT
JI Child Abuse Negl.
PD AUG
PY 2014
VL 38
IS 8
BP 1283
EP 1289
DI 10.1016/j.chiabu.2014.04.007
PG 7
WC Family Studies; Psychology, Social; Social Work
SC Family Studies; Psychology; Social Work
GA AM4YV
UT WOS:000339863000001
PM 24813254
ER
PT J
AU Yau, VM
Green, PG
Alaimo, CP
Yoshida, CK
LUtsky, M
Windham, GC
Delorenze, G
Kharrazi, M
Grether, JK
Croen, LA
AF Yau, Vincent M.
Green, Peter G.
Alaimo, Christopher P.
Yoshida, Cathleen K.
LUtsky, Marta
Windham, Gayle C.
Delorenze, Gerald
Kharrazi, Martin
Grether, Judith K.
Croen, Lisa A.
TI Prenatal and neonatal peripheral blood mercury levels and autism
spectrum disorders
SO ENVIRONMENTAL RESEARCH
LA English
DT Article
DE Autism; Mercury; Pregnancy; Developmental delay; Intellectual disability
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; THIMEROSAL-CONTAINING
VACCINES; HAZARDOUS AIR-POLLUTANTS; CENTRAL-NERVOUS-SYSTEM; FISH
CONSUMPTION; DEVELOPMENTAL DISORDERS; ENVIRONMENTAL-FACTORS; URINARY
PORPHYRINS; INORGANIC MERCURY; CHILD-DEVELOPMENT
AB Background: Prenatal and early-life exposures to mercury have been hypothesized to be associated with increased risk of autism spectrum disorders (ASDs).
Objectives: This study investigated the association between ASDs and levels of total mercury measured in maternal serum from mid-pregnancy and infant blood shortly after birth.
Methods: The study sample was drawn from the Early Markers for Autism (EMA) Study. Three groups of children who were born in Orange County, CA in 2000-2001 were identified: children with ASD (n=84), children with intellectual disability or developmental delay (DD) (n=49), and general population controls (GP) (n=159). Maternal serum specimens and newborn bloodspots were retrieved from the California Department of Public Health prenatal and newborn screening specimen archives. Blood mercury levels were measured in maternal serum samples using mass spectrometer and in infant bloodspots with a 213 nm laser.
Results: Maternal serum and infant blood mercury levels were significantly correlated among all study groups (all correlations > 0.38, p < 0.01). Adjusted logistic regression models showed no significant associations between ASD and log transformed mercury levels in maternal serum samples (ASD vs. GP: OR [95% CI]=0.96 [0.49-1.90]; ASD vs. DD: OR [95% CI]=2.56 [0.89-7.39]). Results for mercury levels in newborn blood samples were similar (ASD vs. GP: OR [95% CI]=1.18 [0.71-1.95]; ASD vs. DD: OR [95% CI]=1.96 [0.75-5.14]).
Conclusions: Results indicate that levels of total mercury in serum collected from mothers during mid-pregnancy and from newborn bloodspots were not significantly associated with risk of ASD, though additional studies with greater sample size and covariate measurement are needed. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Yau, Vincent M.; Yoshida, Cathleen K.; LUtsky, Marta; Delorenze, Gerald; Croen, Lisa A.] Kaiser Permanente, Div Res, Oakland, CA USA.
[Green, Peter G.; Alaimo, Christopher P.] Univ Calif Davis, Dept Civil & Environm Engn, Davis, CA 95616 USA.
[Windham, Gayle C.; Grether, Judith K.] Calif Dept Publ Hlth, Div Environm & Occupat Dis Control, Richmond, CA USA.
[Kharrazi, Martin] Calif Dept Publ Hlth, Genet Dis Screening Program, Richmond, CA USA.
RP Croen, LA (reprint author), Kaiser Permanente, Div Res, Autism Res Program, 2000 Broadway Oakland, Oakland, CA 94612 USA.
EM Lisa.A.Croen@kp.org
FU National Institute of Mental Health [R01-MH72565]; National Alliance for
Autism Research [824/LC/01-201-004-00-00]; California Tobacco-Related
Disease Research Program [8RT-0115]
FX Funding was provided by grants from the National Institute of Mental
Health (R01-MH72565, L. Croen, PI), the National Alliance for Autism
Research (824/LC/01-201-004-00-00, L. Croen, PI), and the California
Tobacco-Related Disease Research Program (8RT-0115, M. Kharrazi, PI). We
thank Ron Torres for DNA amplification; Jack Collins, Roxana Odouli and
Tiffany Wong for project coordination; Julie Ruedaflores for record
review and abstraction; Meredith Anderson and Daniel Najjar for
assistance with data management and analysis; and Steve Graham and
Debbie Hildebrandt for record linkage and specimen retrieval.
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NR 100
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 0013-9351
EI 1096-0953
J9 ENVIRON RES
JI Environ. Res.
PD AUG
PY 2014
VL 133
BP 294
EP 303
DI 10.1016/j.envres.2014.04.034
PG 10
WC Environmental Sciences; Public, Environmental & Occupational Health
SC Environmental Sciences & Ecology; Public, Environmental & Occupational
Health
GA AM2UI
UT WOS:000339705900038
PM 24981828
ER
PT J
AU Suckling, J
Henty, J
Ecker, C
Deoni, SC
Lombardo, MV
Baron-Cohen, S
Jezzard, P
Barnes, A
Chakrabarti, B
Ooi, C
Lai, MC
Williams, SC
Murphy, DGM
Bullmore, ET
AF Suckling, John
Henty, Julian
Ecker, Christine
Deoni, Sean C.
Lombardo, Michael V.
Baron-Cohen, Simon
Jezzard, Peter
Barnes, Anna
Chakrabarti, Bhismadev
Ooi, Cinly
Lai, Meng-Chuan
Williams, Steven C.
Murphy, Declan G. M.
Bullmore, Edward T.
CA MRC AIMS Consortium
TI Are Power Calculations Useful? A Multicentre Neuroimaging Study
SO HUMAN BRAIN MAPPING
LA English
DT Article
DE power calculations; neuroimaging; multicentre
ID STATISTICAL POWER; FUNCTIONAL MRI; BRAIN; AUTISM; REGISTRATION;
VARIANCE; REPRODUCIBILITY; BEHAVIOR; ANATOMY; IMAGES
AB There are now many reports of imaging experiments with small cohorts of typical participants that precede large-scale, often multicentre studies of psychiatric and neurological disorders. Data from these calibration experiments are sufficient to make estimates of statistical power and predictions of sample size and minimum observable effect sizes. In this technical note, we suggest how previously reported voxel-based power calculations can support decision making in the design, execution and analysis of cross-sectional multicentre imaging studies. The choice of MRI acquisition sequence, distribution of recruitment across acquisition centres, and changes to the registration method applied during data analysis are considered as examples. The consequences of modification are explored in quantitative terms by assessing the impact on sample size for a fixed effect size and detectable effect size for a fixed sample size. The calibration experiment dataset used for illustration was a precursor to the now complete Medical Research Council Autism Imaging Multicentre Study (MRC-AIMS). Validation of the voxel-based power calculations is made by comparing the predicted values from the calibration experiment with those observed in MRC-AIMS. The effect of non-linear mappings during image registration to a standard stereotactic space on the prediction is explored with reference to the amount of local deformation. In summary, power calculations offer a validated, quantitative means of making informed choices on important factors that influence the outcome of studies that consume significant resources. (C) 2014 The Authors. Human Brain Mapping Published by Wiley Periodicals, Inc.
C1 [Suckling, John; Henty, Julian; Ooi, Cinly; Bullmore, Edward T.] Univ Cambridge, Dept Psychiat, Brain Mapping Unit, Cambridge, England.
[Suckling, John; Ooi, Cinly; Bullmore, Edward T.] Univ Cambridge, Behav & Clin Neurosci Inst, Cambridge, England.
[Suckling, John; Baron-Cohen, Simon; Bullmore, Edward T.] Cambridge & Peterborough Fdn NHS Trust, Cambridge, England.
[Ecker, Christine; Murphy, Declan G. M.] Kings Coll London, Sackler Inst Translat Neurodev, London WC2R 2LS, England.
[Ecker, Christine; Murphy, Declan G. M.] Kings Coll London, Inst Psychiat, Dept Forens & Neurodev Sci, London WC2R 2LS, England.
[Deoni, Sean C.] Brown Univ, Div Engn, Providence, RI 02912 USA.
[Lombardo, Michael V.; Baron-Cohen, Simon; Chakrabarti, Bhismadev; Lai, Meng-Chuan] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England.
[Jezzard, Peter] Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, England.
[Barnes, Anna] Univ Coll London Hosp, Inst Nucl Med, London, England.
[Chakrabarti, Bhismadev] Univ Reading, Sch Psychol & Clin Language Sci, Ctr Integrat Neurosci & Neurodynam, Reading, Berks, England.
[Williams, Steven C.] Kings Coll London, Inst Psychiat, Ctr Neuroimaging Sci, London, England.
[Bullmore, Edward T.] Addenbrookes Hosp, GlaxoSmithKline Ltd, Clin Unit Cambridge, Cambridge, England.
RP Suckling, J (reprint author), Dept Psychiat, Brain Mapping Unit, Herchel Smith Bldg,Robinson Way, Cambridge CB2 0SZ, England.
EM js369@cam.ac.uk
RI Williams, Steve/D-6979-2011; Ecker, Christine/E-5194-2010
FU Medical Research Council, United Kingdom [G0400061]; Behavioural and
Clinical Neurosciences Institute, Wellcome Trust; Cambridge Biomedical
Research Centre, National Institute of Health Research
FX Contract grant sponsor: Medical Research Council, United Kingdom;
Contract grant number: G0400061; Contract grant sponsors: Behavioural
and Clinical Neurosciences Institute, Wellcome Trust; Cambridge
Biomedical Research Centre, National Institute of Health Research
CR Brown CH, 2009, ANNU REV PUBL HEALTH, V30, P1, DOI 10.1146/annurev.publhealth.031308.100223
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NR 28
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 AUG
PY 2014
VL 35
IS 8
BP 3569
EP 3577
DI 10.1002/hbm.22465
PG 9
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AL8YV
UT WOS:000339426700001
PM 24644267
ER
PT J
AU Verly, M
Verhoeven, J
Zink, I
Mantini, D
Van Oudenhove, L
Lagae, L
Sunaert, S
Rommel, N
AF Verly, Marjolein
Verhoeven, Judith
Zink, Inge
Mantini, Dante
Van Oudenhove, Lukas
Lagae, Lieven
Sunaert, Stefan
Rommel, Nathalie
TI Structural and Functional Underconnectivity as a Negative Predictor for
Language in Autism
SO HUMAN BRAIN MAPPING
LA English
DT Article
DE autism spectrum disorder; diffusion tensor imaging; language impairment;
arcuate fascicle; functional MRI
ID CEREBRAL WHITE-MATTER; HUMAN BRAIN; ARCUATE FASCICULUS; SPECTRUM
DISORDER; FRONTAL-CORTEX; SENTENCE COMPREHENSION; CONNECTIVITY MRI;
HEALTHY-SUBJECTS; CROSSING FIBERS; IN-VIVO
AB The development of language, social interaction, and communicative skills are remarkably different in the child with autism spectrum disorder (ASD). Atypical brain connectivity has frequently been reported in this patient population. However, the interplay between their brain connectivity and language performance remains largely understudied. Using diffusion tensor imaging tractography and resting-state fMRI, the authors explored the structural and functional connectivity of the language network and its relation to the language profile in a group of healthy control subjects (N = 25) and a group of children with ASD (N = 17). The authors hypothesized that in children with ASD, a neural connectivity deficit of the language network can be related to the observed abnormal language function. They found an absence of the right-hemispheric arcuate fascicle (AF) in 28% (7/25) of the healthy control children and in 59% (10/17) of the children with ASD. In contrast to healthy control children, the absence of the right-hemispheric AF in children with autism was related to a lower language performance as indicated by a lower verbal IQ, lower scores on the Pea-body Picture Vocabulary Test, and lower language scores on the Dutch version of the Clinical Evaluation of Language Fundamentals (CELF-4NL). In addition, through iterative fMRI data analyses, the language impairment of children with ASD could be linked to a marked loss of intrahemispheric functional connectivity between inferior frontal and superior temporal regions, known as the cortical language network. Both structural and functional underconnectivity patterns coincide and are related to an abnormal language function in children with ASD. (C) 2013 Wiley Periodicals, Inc.
C1 [Verly, Marjolein; Zink, Inge; Rommel, Nathalie] Katholieke Univ Leuven, ExpORL, Dept Neurosci, B-3000 Leuven, Belgium.
[Verhoeven, Judith; Lagae, Lieven] Katholieke Univ Leuven, Univ Hosp, Dept Pediat, Leuven, Belgium.
[Mantini, Dante] Univ Oxford, Dept Expt Psychol, Oxford OX1 3UD, England.
[Mantini, Dante] ETH, Dept Hlth Sci & Technol, Zurich, Switzerland.
[Mantini, Dante] Katholieke Univ Leuven, Dept Neurosci, Lab Neurophysiol & Psychophysiol, B-3000 Leuven, Belgium.
[Van Oudenhove, Lukas] Katholieke Univ Leuven, Dept Clin & Expt Med, Translat Res Ctr Gastrointestinal Disorders TARGI, B-3000 Leuven, Belgium.
[Van Oudenhove, Lukas] Katholieke Univ Leuven, Univ Psychiat Ctr, B-3000 Leuven, Belgium.
[Sunaert, Stefan] Katholieke Univ Leuven, Univ Hosp, Dept Radiol, Leuven, Belgium.
RP Verly, M (reprint author), Katholieke Univ Leuven, ExpORL, Dept Neurosci, Herestr 49, B-3000 Leuven, Belgium.
EM marjolein.verly@med.kuleuven.be
RI Rommel, Nathalie/D-6721-2014
FU Fund for Scientific Research-Flanders, FWO, Belgium [G.0354.06];
Research Council of the University of Leuven [IDO/08/013]; IUAP-KUL
FX Contract grant sponsor: Fund for Scientific Research-Flanders, FWO,
Belgium; Contract grant number: G.0354.06; Contract grant sponsor:
Research Council of the University of Leuven; Contract grant number:
IDO/08/013; Contract grant sponsor: IUAP-KUL.
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NR 78
TC 0
Z9 0
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 AUG
PY 2014
VL 35
IS 8
BP 3602
EP 3615
DI 10.1002/hbm.22424
PG 14
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AL8YV
UT WOS:000339426700004
PM 24375710
ER
PT J
AU Nair, A
Keown, CL
Datko, M
Shih, P
Keehn, B
Muller, RA
AF Nair, Aarti
Keown, Christopher L.
Datko, Michael
Shih, Patricia
Keehn, Brandon
Mueller, Ralph-Axel
TI Impact of Methodological Variables on Functional Connectivity Findings
in Autism Spectrum Disorders
SO HUMAN BRAIN MAPPING
LA English
DT Article
DE functional connectivity; fMRI; autism; resting state; region of
interest; temporal filtering; task regression
ID HUMAN CEREBRAL-CORTEX; RESTING HUMAN BRAIN; CORTICAL UNDERCONNECTIVITY;
SENTENCE COMPREHENSION; RESPONSE-INHIBITION; COGNITIVE CONTROL;
VISUAL-CORTEX; GLOBAL SIGNAL; MOTOR TASK; STATE
AB Growing evidence suggests that Autism Spectrum Disorder (ASD) involves abnormalities of multiple functional networks. Neuroimaging studies of ASD have therefore increasingly focused on connectivity. Many functional connectivity (fcMRI) studies have reported network underconnectivity in children and adults with ASD. However, there are notable inconsistencies, with some studies reporting overconnectivity. A previous literature survey suggested that a few methodological factors play a crucial role in differential fcMRI outcomes. Using three ASD data sets (two task-related, one resting state) from 54 ASD and 51 typically developing (TD) participants (ages 9-18 years), we examined the impact of four methodological factors: type of pipeline (co-activation vs. intrinsic analysis, related to temporal filtering and removal of task-related effects), seed selection, field of view (whole brain vs. limited ROIs), and dataset. Significant effects were found for type of pipeline, field of view, and dataset. Notably, for each dataset results ranging from robust underconnectivity to robust overconnectivity were detected, depending on the type of pipeline, with intrinsic fcMRI analyses (low bandpass filter and task regressor) predominantly yielding overconnectivity in ASD, but co-activation analyses (no low bandpass filter or task removal) mostly generating underconnectivity findings. These results suggest that methodological variables have dramatic impact on group differences reported in fcMRI studies. Improved awareness of their implications appears indispensible in fcMRI studies when inferences about "underconnectivity" or "overconnectivity" in ASD are made. In the absence of a gold standard for functional connectivity, the combination of different methodological approaches promises a more comprehensive understanding of connectivity in ASD. (c) 2014 Wiley Periodicals, Inc.
C1 [Nair, Aarti; Keown, Christopher L.; Datko, Michael; Shih, Patricia; Keehn, Brandon; Mueller, Ralph-Axel] San Diego State Univ, Dept Psychol, Brain Dev Imaging Lab, San Diego, CA 92120 USA.
[Nair, Aarti; Mueller, Ralph-Axel] San Diego State Univ, Joint Doctoral Program Clin Psychol, San Diego, CA 92120 USA.
[Nair, Aarti; Mueller, Ralph-Axel] Univ Calif San Diego, San Diego, CA 92103 USA.
[Keown, Christopher L.; Datko, Michael] Univ Calif San Diego, Dept Cognit Sci, San Diego, CA 92103 USA.
[Shih, Patricia] Brown Univ, Dept Neurosci, Providence, RI 02912 USA.
[Keehn, Brandon] Harvard Univ, Sch Med, Boston Childrens Hosp, Labs Cognit Neurosci, Boston, MA USA.
RP Muller, RA (reprint author), San Diego State Univ, Dept Psychol, 6363 Alvarado Ct,Suite 200, San Diego, CA 92120 USA.
EM rmueller@mail.sdsu.edu
FU National Institutes of Health [R01-MH081023]; Autism Speaks Dennis
Weatherstone Predoctoral Fellowship [7850]
FX Contract grant sponsor: National Institutes of Health; Contract grant
number: R01-MH081023; Contract grant sponsor: Autism Speaks Dennis
Weatherstone Predoctoral Fellowship; Contract grant numbers: 7850 (to
A.N.).
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NR 96
TC 7
Z9 7
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 AUG
PY 2014
VL 35
IS 8
BP 4035
EP 4048
DI 10.1002/hbm.22456
PG 14
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AL8YV
UT WOS:000339426700035
PM 24452854
ER
PT J
AU Ben-David, E
Shohat, S
Shifman, S
AF Ben-David, Eyal
Shohat, Shahar
Shifman, Sagiv
TI Allelic expression analysis in the brain suggests a role for
heterogeneous insults affecting epigenetic processes in autism spectrum
disorders
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID X-CHROMOSOME INACTIVATION; DE-NOVO MUTATIONS; MONOALLELIC EXPRESSION;
IMPRINTED GENES; RETT-SYNDROME; MOUSE-BRAIN; PATTERNS; UBE3A;
NEUROBIOLOGY; CONNECTIVITY
AB Monoallelic expression, including genomic imprinting, X-chromosome inactivation and random monoallelic expression of autosomal genes are epigenetic phenomena. Genes that are expressed in a monoallelic way may be more vulnerable to genetic or epigenetic mutations. Thus, comprehensive exploration of monoallelic expression in human brains may shed light on complex brain disorders. Autism-related disorders are known to be associated with imprinted genes on chromosome 15. However, it is not clear whether other imprinted regions or other types of monoallelic expression are associated with autism spectrum disorder (ASD). Here, we performed a genome-wide survey of allele expression imbalance (AEI) in the human brain using single-nucleotide polymorphisms (SNPs), in 18 individuals with ASD and 15 controls. Individuals with ASD had the most extreme number of monoallelic expressed SNPs in both the autosomes and the X chromosome. In two cases that were studied in detail, the monoallelic expression was confined to specific brain region or cell type. Using these data, we were also able to define the allelic expression status of known imprinted genes in the human brain and to identify abnormal imprinting in an individual with ASD. Lastly, we developed an analysis of individual-level expression, focusing on the difference of each individual from the mean. We found that individuals with ASD had more genes that were up- or down-regulated in an individual-specific manner. We also identified pathways perturbed in specific individuals. These results underline the heterogeneity in gene regulation in ASD, at the level of both allelic and total expression.
C1 [Ben-David, Eyal; Shohat, Shahar; Shifman, Sagiv] Hebrew Univ Jerusalem, Dept Genet, Inst Life Sci, IL-91904 Jerusalem, Israel.
RP Shifman, S (reprint author), Hebrew Univ Jerusalem, Dept Genet, Inst Life Sci, Edmond J Safra campus, IL-91904 Jerusalem, Israel.
EM sagiv@vms.huji.ac.il
FU National Institute for Psychobiology in Israel; Legacy Heritage Fund
program of the Israel Science Foundation [1998/08]; Israel Science
Foundation [688/12]; Dennis Weatherstone Pre-doctoral Fellowship from
Autism Speaks [8595]
FX This research was supported by grants from the National Institute for
Psychobiology in Israel, the Legacy Heritage Fund program of the Israel
Science Foundation (grant no. 1998/08), and Israel Science Foundation
(grant no. 688/12). E. B. D. is supported by the Dennis Weatherstone
Pre-doctoral Fellowship from Autism Speaks (grant no. 8595).
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NR 60
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 AUG 1
PY 2014
VL 23
IS 15
BP 4111
EP 4124
DI 10.1093/hmg/ddu128
PG 14
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AM2GV
UT WOS:000339669200018
PM 24659497
ER
PT J
AU Benson, PR
AF Benson, Paul R.
TI Coping and Psychological Adjustment Among Mothers of Children with ASD:
An Accelerated Longitudinal Study
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Coping; Stress; Psychological adjustment; Autism spectrum disorders;
ASD; Mothers
ID AUTISM SPECTRUM DISORDERS; MULTILEVEL MODELING APPROACH; PARENTAL
SELF-EFFICACY; BEHAVIOR RATING FORM; DOUBLE ABCX MODEL;
MENTAL-RETARDATION; SOCIAL SUPPORT; DEVELOPMENTAL-DISABILITIES;
INTELLECTUAL DISABILITIES; STRESS PROLIFERATION
AB Utilizing a cohort sequential design and multilevel modeling on a sample of 113 mothers, the effects of four coping strategies (engagement, disengagement, distraction, and cognitive reframing) on multiple measures of maternal adjustment were assessed over a 7 years period when children with autism spectrum disorders in the study were approximately 7-14 years old. Findings indicated increased use of disengagement and distraction to be related to increased maternal maladjustment over time, while increased use of cognitive reframing was linked to improved maternal outcomes (findings regarding engagement's effects on adjustment measures were mixed). In addition, results indicated that use of different coping strategies at times moderated the effects of child behavior on maternal adjustment. Study findings are discussed in light of prior research and study limitations and clinical implications are highlighted.
C1 Univ Massachusetts, Dept Sociol, Boston, MA 02125 USA.
RP Benson, PR (reprint author), Univ Massachusetts, Dept Sociol, 100 Morrissey Blvd, Boston, MA 02125 USA.
EM paul.benson@umb.edu
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NR 77
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 AUG
PY 2014
VL 44
IS 8
BP 1793
EP 1807
DI 10.1007/s10803-014-2079-9
PG 15
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400001
PM 24599424
ER
PT J
AU Jensen, CM
Steinhausen, HC
Lauritsen, MB
AF Jensen, Christina Mohr
Steinhausen, Hans-Christoph
Lauritsen, Marlene Briciet
TI Time Trends Over 16 Years in Incidence-Rates of Autism Spectrum
Disorders Across the Lifespan Based on Nationwide Danish Register Data
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE ASD; Autism; Incidence; Time-trend
ID PERVASIVE DEVELOPMENTAL DISORDERS; OLMSTED COUNTY; BIRTH COHORTS;
DIAGNOSIS; CHILDREN; POPULATION; PREVALENCE; AGE; CALIFORNIA; MINNESOTA
AB This study investigated time trends and associated factors of incidence rates of diagnosed autism spectrum disorders (ASD) across the lifespan from 1995 to 2010, using data from the Danish Psychiatric Central Research Registry. First time diagnosis of childhood autism, atypical autism, Asperger's syndrome, or pervasive developmental disorder-unspecified (PDD-NOS) were identified, incidence rates were calculated, and data were fitted using non-linear least squares methods. A total of 14.997 patients were identified and incidence rates for ASD increased from 9.0 to 38.6 per 100,000 person years during the 16-year period. The increases were most pronounced in females, adolescents, adults, and patients with Asperger's syndrome and PDD-NOS.
C1 [Jensen, Christina Mohr; Steinhausen, Hans-Christoph; Lauritsen, Marlene Briciet] Aalborg Univ Hosp, Res Unit Child & Adolescent Psychiat, Aalborg Psychiat Hosp, DK-9000 Aalborg, Denmark.
[Steinhausen, Hans-Christoph] Univ Basel, Inst Psychol, Basel, Switzerland.
[Steinhausen, Hans-Christoph] Univ Zurich, Dept Child & Adolescent Psychiat, Zurich, Switzerland.
RP Jensen, CM (reprint author), Aalborg Univ Hosp, Res Unit Child & Adolescent Psychiat, Aalborg Psychiat Hosp, Molleparkvej 10, DK-9000 Aalborg, Denmark.
EM christina.j@rn.dk
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NR 32
TC 5
Z9 5
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 AUG
PY 2014
VL 44
IS 8
BP 1808
EP 1818
DI 10.1007/s10803-014-2053-6
PG 11
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400002
PM 24554161
ER
PT J
AU Harper-Hill, K
Copland, D
Arnott, W
AF Harper-Hill, Keely
Copland, David
Arnott, Wendy
TI Efficiency of Lexical Access in Children with Autism Spectrum Disorders:
Does Modality Matter?
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Children; Language; Semantic priming; Retrospective semantic matching;
Attention; Visual support; Autism spectrum disorders
ID HIGH-FUNCTIONING AUTISM; LANGUAGE IMPAIRMENT; YOUNG-CHILDREN; LARGE SET;
ADULTS; DECISION; SPEECH; WORDS; COMPREHENSION; MEMORY
AB The provision of visual support to individuals with an autism spectrum disorder (ASD) is widely recommended. We explored one mechanism underlying the use of visual supports: efficiency of language processing. Two groups of children, one with and one without an ASD, participated. The groups had comparable oral and written language skills and nonverbal cognitive abilities. In two semantic priming experiments, prime modality and prime-target relatedness were manipulated. Response time and accuracy of lexical decisions on the spoken word targets were measured. In the first uni-modal experiment, both groups demonstrated significant priming effects. In the second experiment which was cross-modal, no effect for relatedness or group was found. This result is considered in the light of the attentional capacity required for access to the lexicon via written stimuli within the developing semantic system. These preliminary findings are also considered with respect to the use of visual support for children with ASD.
C1 [Harper-Hill, Keely; Copland, David] Univ Queensland, Clin Res Ctr, Brisbane, Qld, Australia.
[Harper-Hill, Keely; Copland, David; Arnott, Wendy] Univ Queensland, Sch Hlth & Rehabil, Div Speech Pathol, Brisbane, Qld, Australia.
RP Harper-Hill, K (reprint author), Univ Queensland, Clin Res Ctr, Brisbane, Qld, Australia.
EM k.harperhill@uq.edu.au
RI Copland, David/F-1409-2010
OI Copland, David/0000-0002-2257-4270
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NR 82
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 AUG
PY 2014
VL 44
IS 8
BP 1819
EP 1832
DI 10.1007/s10803-014-2055-4
PG 14
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400003
PM 24519698
ER
PT J
AU Fatemi, SH
Reutiman, TJ
Folsom, TD
Rustan, OG
Rooney, RJ
Thuras, PD
AF Fatemi, S. Hossein
Reutiman, Teri J.
Folsom, Timothy D.
Rustan, Oyvind G.
Rooney, Robert J.
Thuras, Paul D.
TI Downregulation of GABA(A) Receptor Protein Subunits alpha 6, beta 2,
delta, epsilon, gamma 2, theta, and rho 2 in Superior Frontal Cortex of
Subjects with Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; GABA; Brain; GABR alpha 6; Frontal cortex; GABR beta 2
ID FRAGILE-X-SYNDROME; MENTAL-RETARDATION PROTEIN; IN-SITU HYBRIDIZATION;
MESSENGER-RNA LEVELS; SPECTRUM DISORDERS; RAT-BRAIN; CHROMOSOME
15Q11-Q13; SIGNIFICANT ASSOCIATION; POSTMORTEM BRAIN; GENE-EXPRESSION
AB We measured protein and mRNA levels for nine gamma-aminobutyric acid A (GABA(A)) receptor subunits in three brain regions (cerebellum, superior frontal cortex, and parietal cortex) in subjects with autism versus matched controls. We observed changes in mRNA for a number of GABA(A) and GABA(B) subunits and overall reduced protein expression for GABA(A) receptor alpha 6 (GABR alpha 6), GABA(A) receptor beta 2 (GABR beta 2), GABA(A) receptor delta (GABR delta), GABA(A) receptor epsilon (GABR epsilon), GABA(A) receptor gamma 2 (GABR gamma 2), GABA(A) receptor theta (GABR theta), and GABA(A) receptor rho 2 (GABR rho 2) in superior frontal cortex from subjects with autism. Our data demonstrate systematic changes in GABA(A&B) subunit expression in brains of subjects with autism, which may help explain the presence of cognitive abnormalities in subjects with 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, Dept Pharmacol, Sch Med, Minneapolis, MN 55455 USA.
[Fatemi, S. Hossein] Univ Minnesota, Dept Neurosci, Sch Med, Minneapolis, MN 55455 USA.
[Rooney, Robert J.] Genome Explorat, Memphis, TN 84322 USA.
[Thuras, Paul D.] Minneapolis Vet Adm Med Ctr, Dept Psychiat 116A, Minneapolis, MN 55417 USA.
RP Fatemi, SH (reprint author), Univ Minnesota, Div Neurosci Res, Dept Psychiat, Sch Med, 420 Delaware St SE,MMC 392, Minneapolis, MN 55455 USA.
EM fatem002@umn.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 AUG
PY 2014
VL 44
IS 8
BP 1833
EP 1845
DI 10.1007/s10803-014-2078-x
PG 13
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400004
PM 24668190
ER
PT J
AU Jameel, L
Vyas, K
Bellesi, G
Roberts, V
Channon, S
AF Jameel, Leila
Vyas, Karishma
Bellesi, Giulia
Roberts, Victoria
Channon, Shelley
TI Going 'Above and Beyond': Are Those High in Autistic Traits Less
Pro-social?
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autistic traits; Pro-social behaviour; Empathy; Perspective-taking;
Theory of mind
ID MIRROR-NEURON SYSTEM; SPECTRUM QUOTIENT AQ; ASPERGERS-SYNDROME;
FUNCTIONING AUTISM; COGNITIVE-STYLE; SKILLS GROUP; MIND; CHILDREN;
BEHAVIOR; EMPATHY
AB Few studies have explored how the cognitive differences associated with autistic spectrum disorder translate into everyday social behaviour. This study investigated pro-social behaviour in students scoring high and low on the autism-spectrum quotient (AQ), using a novel scenario task: 'Above and Beyond'. Each scenario involved an opportunity to behave pro-socially, and thus required balancing the needs of a character against participants' own interests. High AQ participants both generated responses and selected courses of action that were less pro-social than those of the low AQ group. For actions of low pro-social value they gave higher self-satisfaction ratings; conversely, they gave lower self-satisfaction ratings for high pro-social actions. The implications for everyday functioning are considered for those with high autistic traits.
C1 [Jameel, Leila; Vyas, Karishma; Bellesi, Giulia; Roberts, Victoria; Channon, Shelley] Univ Coll London, Dept Cognit Perceptual & Brain Sci, Bedford WC1E 6BT, England.
RP Jameel, L (reprint author), Univ Coll London, Dept Cognit Perceptual & Brain Sci, Bedford Way Bldg,Gower St, Bedford WC1E 6BT, England.
EM l.jameel@ucl.ac.uk
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NR 99
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 AUG
PY 2014
VL 44
IS 8
BP 1846
EP 1858
DI 10.1007/s10803-014-2056-3
PG 13
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400005
PM 24522968
ER
PT J
AU Hathorn, C
Alateeqi, N
Graham, C
O'Hare, A
AF Hathorn, Claire
Alateeqi, Nahed
Graham, Catriona
O'Hare, Anne
TI Impact of Adherence to Best Practice Guidelines on the Diagnostic and
Assessment Services for Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Guidelines; Autism spectrum disorder; ASD specific history;
Observational instruments; Paediatric medical training
ID ASPERGER-SYNDROME; RISK-FACTORS; CHILDREN; COMMUNICATION; PREVALENCE;
AGE; POPULATION; QUALITY; UTILITY; RATES
AB Despite their range and complexity, adherence to Scottish Intercollegiate Guidelines Network guideline for the diagnosis and assessment of autism spectrum disorders (ASD) was shown to be high within child development and specialist diagnostic clinics serving a geographical cohort of children diagnosed under the age of 7 years. A retrospective analysis of comprehensive clinical notes demonstrated that the recommended discretionary use of structured history instruments was increased after medical training (p = 0.003). 56 % (51/90) of children received the diagnosis of ASD at their initial specialist appointment. 51 % underwent the recommended discretionary structured observational instrument. This further assessment was more likely to be required for older children in the reaudited group (p = 0.001). The implications for service capacity planning when delivering best practice recommendations are discussed.
C1 [Hathorn, Claire] Royal Hosp Sick Children, Edinburgh EH9 1LF, Midlothian, Scotland.
[Alateeqi, Nahed; O'Hare, Anne] Univ Edinburgh, Sch Clin Sci Child Life & Hlth, Edinburgh EH9 1UW, Midlothian, Scotland.
[Graham, Catriona] Wellcome Trust Clin Res Facil, Edinburgh, Midlothian, Scotland.
RP O'Hare, A (reprint author), Univ Edinburgh, Sch Clin Sci Child Life & Hlth, 20 Sylvan Pl, Edinburgh EH9 1UW, Midlothian, Scotland.
EM aohare@ed.ac.uk
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World Health Organisation, 1993, THE INTERNATIONAL CL
NR 51
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 AUG
PY 2014
VL 44
IS 8
BP 1859
EP 1866
DI 10.1007/s10803-014-2057-2
PG 8
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400006
PM 24573334
ER
PT J
AU Mavropoulou, S
Sideridis, GD
AF Mavropoulou, Sophia
Sideridis, Georgios D.
TI Knowledge of Autism and Attitudes of Children Towards Their Partially
Integrated Peers with Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Peers; Partial integration; Knowledge; Attitudes; Empathy
ID COOPERATIVE LEARNING GROUPS; BEHAVIORAL INTENTIONS; SEVERE DISABILITIES;
STUDENTS ATTITUDES; GENERAL-EDUCATION; CONTACT THEORY; EMPATHY SCALE;
PLACEMENT; PROGRAMS; YOUTH
AB This study aimed to measure the effects of contact with integrated students with autism spectrum disorders (ASD) on the knowledge, attitudes and empathy of children (n = 224) from grades 4-6. A comparison group of children (n = 251) who had no contact with classmates with ASD was also included. All participants completed self-report instruments. The implementation of multilevel modeling and moderation analysis indicated significant effects on all dependent variables as well as differences across gender and grades. Implications are discussed regarding the role of contact on peers' conceptions of autism and their attitudes towards children with ASD within inclusionary settings.
C1 [Mavropoulou, Sophia] Univ Thessaly, Dept Special Educ, Volos 38221, Greece.
[Sideridis, Georgios D.] Harvard Univ, Childrens Hosp, Clin Res Ctr, Sch Med, Boston, MA USA.
RP Mavropoulou, S (reprint author), Univ Thessaly, Dept Special Educ, Volos 38221, Greece.
EM smavrop@uth.gr; Georgios.Sideridis@childrens.harvard.edu
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NR 71
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 AUG
PY 2014
VL 44
IS 8
BP 1867
EP 1885
DI 10.1007/s10803-014-2059-0
PG 19
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400007
PM 24535575
ER
PT J
AU Lahera, G
Boada, L
Pousa, E
Mirapeix, I
Moron-Nozaleda, G
Marinas, L
Gisbert, L
Pamias, M
Parellada, M
AF Lahera, G.
Boada, L.
Pousa, E.
Mirapeix, I.
Moron-Nozaleda, G.
Marinas, L.
Gisbert, L.
Pamias, M.
Parellada, M.
TI Movie for the Assessment of Social Cognition (MASC): Spanish Validation
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Social cognition; Theory of mind; Autism; Asperger syndrome; MASC
ID HIGH-FUNCTIONING AUTISM; BELIEF TASK-PERFORMANCE; PSYCHIATRY SCIP-S;
ASPERGER-SYNDROME; AUTOBIOGRAPHICAL MEMORY; SPECTRUM DISORDERS; REVISED
VERSION; NORMAL ADULTS; MIND; CHILDREN
AB We present the Spanish validation of the "Movie for the Assessment of Social Cognition" instrument (MASC-SP). We recruited 22 adolescents and young adults with Asperger syndrome and 26 participants with typical development. The MASC-SP and three other social cognition instruments (Ekman Pictures of Facial Affect test, Reading the Mind in the Eyes Test, and Happ,aEuro (TM) s Strange Stories) were administered to both groups. Individuals with Asperger syndrome had significantly lower scores in all measures of social cognition. The MASC-SP showed strong correlations with all three measures and relative independence of general cognitive functions. Internal consistency was optimal (0.86) and the test-retest was good. The MASC-SP is an ecologically valid and useful tool for assessing social cognition in the Spanish population.
C1 [Lahera, G.] Univ Alcala De Henares, Psychiat Med Special Dept, Fac Med, Madrid 28871, Spain.
[Boada, L.; Moron-Nozaleda, G.; Parellada, M.] Hosp Gen Univ Gregorio Maranon, Child & Adolescent Psychiat Dept, Ctr Invest Biomed Red Salud Mental CIBERSAM, Madrid, Spain.
[Pousa, E.; Gisbert, L.; Pamias, M.] Univ Autonoma Barcelona, Univ Hosp, Bellaterra 08193, Spain.
[Mirapeix, I.; Marinas, L.] Univ Alcala De Henares, Dept Psychiat, Principe Asturias Univ Hosp, Madrid 28871, Spain.
RP Lahera, G (reprint author), Univ Alcala De Henares, Psychiat Med Special Dept, Fac Med, Campus Cient Tecnol, Madrid 28871, Spain.
EM guillermo.lahera@uah.es
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NR 67
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 AUG
PY 2014
VL 44
IS 8
BP 1886
EP 1896
DI 10.1007/s10803-014-2061-6
PG 11
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400008
PM 24522969
ER
PT J
AU Lanning, BA
Baier, MEM
Ivey-Hatz, J
Krenek, N
Tubbs, JD
AF Lanning, Beth A.
Baier, Margaret E. Matyastik
Ivey-Hatz, Julie
Krenek, Nancy
Tubbs, Jack D.
TI Effects of Equine Assisted Activities on Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Equine assisted activities and therapies; Quality of life;
Therapeutic horseback riding
ID GENERIC CORE SCALES; SOCIAL-SKILLS; CHILDREN; METAANALYSIS; RELIABILITY;
VALIDITY; INTERVENTIONS; PSYCHOTHERAPY
AB Quality of life assessments were used in this study to determine the behavioral changes of children diagnosed with autism spectrum disorder (ASD) who participated in equine assisted activities. Behavioral changes of children with ASD participating in 9 weeks of equines assisted activities (EAA) (N = 10) were compared to behavioral changes of children who participated in a non-equine intervention (N = 8). Parents noted significant improvements in their child's physical, emotional and social functioning following the first 6 weeks of EAA. The children participating in the non-equine program also demonstrated improvement in behavior, but to a lesser degree. The favorable outcome of this study lends support for continuation of programs utilizing EAA in the treatment of children with ASD.
C1 [Lanning, Beth A.] Baylor Univ, Hlth Human Performance & Recreat Dept, Waco, TX 76798 USA.
[Baier, Margaret E. Matyastik] Baylor Univ, Dept Family & Consumer Sci, Waco, TX 76798 USA.
[Ivey-Hatz, Julie] Baylor Univ, Waco, TX 76798 USA.
[Krenek, Nancy] ROCK, Georgetown, TX USA.
[Tubbs, Jack D.] Baylor Univ, Dept Stat Sci, Waco, TX 76798 USA.
RP Lanning, BA (reprint author), Baylor Univ, Hlth Human Performance & Recreat Dept, One Bear Pl, Waco, TX 76798 USA.
EM Beth_Lanning@baylor.edu
CR American Psychiatric Association, 2013, DIAGNOSTIC AND STATI
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Professional Association of Therapeutic Horsemanship International, 2014, EAAT DEFINITIONS
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Ware J. E, 2008, THE CHQ USERS MANUAL
Wuang YP, 2010, ADAPT PHYS ACT Q, V27, P113
Zadnikar M, 2011, DEV MED CHILD NEUROL, V53, P684, DOI 10.1111/j.1469-8749.2011.03951.x
NR 27
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 AUG
PY 2014
VL 44
IS 8
BP 1897
EP 1907
DI 10.1007/s10803-014-2062-5
PG 11
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400009
PM 24526337
ER
PT J
AU Zaidman-Zait, A
Mirenda, P
Duku, E
Szatmari, P
Georgiades, S
Volden, J
Zwaigenbaum, L
Vaillancourt, T
Bryson, S
Smith, I
Fombonne, E
Roberts, W
Waddell, C
Thompson, A
AF Zaidman-Zait, Anat
Mirenda, Pat
Duku, Eric
Szatmari, Peter
Georgiades, Stelios
Volden, Joanne
Zwaigenbaum, Lonnie
Vaillancourt, Tracy
Bryson, Susan
Smith, Isabel
Fombonne, Eric
Roberts, Wendy
Waddell, Charlotte
Thompson, Ann
CA Pathways ASD Study Team
TI Examination of Bidirectional Relationships Between Parent Stress and Two
Types of Problem Behavior in Children with Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Parenting stress; Externalizing behavior;
Internalizing behavior
ID INDEX-SHORT FORM; STONES TRIPLE-P; MATERNAL DEPRESSION; DEVELOPMENTAL
DELAY; PRESCHOOL-CHILDREN; YOUNG-CHILDREN; INTERVENTION; MOTHERS;
IMPACT; DISABILITIES
AB Path analysis within a structural equation modeling framework was employed to examine the relationships between two types of parent stress and children's externalizing and internalizing behaviors over a 4-year period, in a sample of 184 mothers of young children with autism spectrum disorder. Parent stress was measured with the Parenting Stress Index-Short Form and child behavior was measured with Child Behavior Checklist/1.5-5. Across all time points, parent general distress predicted both types of child behaviors, but not vice versa. In addition, there was modest evidence of a bidirectional relationship between parenting distress and both types of child behaviors from 12 months post-diagnosis to age 6. Results are compared to previous work in this area, with implications for early intervention.
C1 [Zaidman-Zait, Anat; Mirenda, Pat] Univ British Columbia, Vancouver, BC V5Z 1M9, Canada.
[Duku, Eric; Georgiades, Stelios; Thompson, Ann] McMaster Univ, Hamilton, ON, Canada.
[Szatmari, Peter] McMaster Univ, Offord Ctr Child Studies, Hamilton, ON, Canada.
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RP Zaidman-Zait, A (reprint author), Tel Aviv Univ, Sch Educ, POB 39040, IL-6997801 Tel Aviv, Israel.
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RI Vaillancourt, Tracy/F-8949-2015
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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 AUG
PY 2014
VL 44
IS 8
BP 1908
EP 1917
DI 10.1007/s10803-014-2064-3
PG 10
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400010
PM 24550079
ER
PT J
AU Kulage, KM
Smaldone, AM
Cohn, EG
AF Kulage, Kristine M.
Smaldone, Arlene M.
Cohn, Elizabeth G.
TI How Will DSM-5 Affect Autism Diagnosis? A Systematic Literature Review
and Meta-analysis
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE DSM-5; Autism spectrum disorder; PDD-NOS; Diagnosis; Public health
policy
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; IV-TR; PROPOSED
DSM-5; CHILDREN; CRITERIA; IDENTIFICATION; SPECIFICITY; SENSITIVITY;
TODDLERS
AB We conducted a systematic review and meta-analysis to determine the effect of changes to the Diagnostic and Statistical Manual (DSM)-5 on autism spectrum disorder (ASD) and explore policy implications. We identified 418 studies; 14 met inclusion criteria. Studies consistently reported decreases in ASD diagnosis (range 7.3-68.4 %) using DSM-5 criteria. There were statistically significant pooled decreases in ASD [31 % (20-44), p = 0.006] and DSM-IV-TR subgroups of Autistic disorder [22 % (16-29), p < 0.001] and pervasive developmental disorder-not otherwise specified (PDD-NOS) [70 % (55-82), p = 0.01]; however, Asperger's disorder pooled decrease was not significant [70 % (26-94), p = 0.38]. DSM-5 will likely decrease the number of individuals diagnosed with ASD, particularly the PDD-NOS subgroup. Research is needed on policies regarding services for individuals lacking diagnosis but requiring assistance.
C1 [Kulage, Kristine M.] Columbia Univ, Dept Hlth Policy & Management, Mailman Sch Publ Hlth, New York, NY 10032 USA.
[Kulage, Kristine M.] Columbia Univ, Off Scholarship & Res Dev, Sch Nursing, New York, NY 10032 USA.
[Smaldone, Arlene M.; Cohn, Elizabeth G.] Columbia Univ, Sch Nursing, New York, NY 10032 USA.
RP Kulage, KM (reprint author), Columbia Univ, Off Scholarship & Res Dev, Sch Nursing, 630 West 168th St,Box 6, New York, NY 10032 USA.
EM kk729@columbia.edu
CR American Psychiatric Association APA, 2013, DIAGN STAT MAN MENT, V5th
APA, 2012, DSM 5 AUT SPECTR DIS
APA, 2013, SOC PRAGM COMM DIS
APA, 2012, REC UPD PROP REV DSM
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NR 47
TC 5
Z9 6
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 AUG
PY 2014
VL 44
IS 8
BP 1918
EP 1932
DI 10.1007/s10803-014-2065-2
PG 15
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400011
PM 24531932
ER
PT J
AU Hoefman, R
Payakachat, N
van Exel, J
Kuhlthau, K
Kovacs, E
Pyne, J
Tilford, JM
AF Hoefman, Renske
Payakachat, Nalin
van Exel, Job
Kuhlthau, Karen
Kovacs, Erica
Pyne, Jeffrey
Tilford, J. Mick
TI Caring for a Child with Autism Spectrum Disorder and Parents' Quality of
Life: Application of the CarerQol
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Family caregiving; Subjective burden; Autism spectrum disorders (ASDs);
Quality of life; CarerQol; Construct validation
ID INFORMAL CARE; CAREGIVER BURDEN; STRESS PROLIFERATION; ECONOMIC
EVALUATIONS; DEPRESSED MOOD; MENTAL-HEALTH; IMPACT; FAMILY; ASD;
INSTRUMENT
AB This study describes the impact of caregiving on parents of children with autism spectrum disorders (ASDs). Secondly, we investigate construct validation of the care-related quality of life instrument (CarerQol) measuring impact of caregiving. Primary caregivers of children with ASDs were included. Many parents experienced considerable problems combining daily activities with care, had financial problems or suffered from depressive mood. Validity tests showed that a higher impact of caring on the CarerQol was positively associated with higher subjective burden and lower family quality of life. Most of the associations between CarerQol scores and background characteristics confirmed previous research. The CarerQol validly measures the impact of caregiving for children with ASDs on caregivers in our sample. The CarerQol may therefore be useful for including parent outcomes in research on ASDs.
C1 [Hoefman, Renske; van Exel, Job] Erasmus Univ, Inst Hlth Policy & Management, NL-3000 DR Rotterdam, Netherlands.
[Payakachat, Nalin] Univ Arkansas Med Sci, Div Pharmaceut Evaluat & Policy, Little Rock, AR 72205 USA.
[Kuhlthau, Karen] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA.
[Kuhlthau, Karen] Massachusetts Gen Hosp, Ctr Child & Adolescent Hlth Policy, Boston, MA 02114 USA.
[Kovacs, Erica] Columbia Univ, Dept Psychiat, Div Child & Adolescent Psychiat, Med Ctr, New York, NY USA.
[Pyne, Jeffrey] Cent Arkansas Vet Healthcare Syst, Ctr Mental Hlth Outcomes Res, Little Rock, AR USA.
[Tilford, J. Mick] Univ Arkansas Med Sci, Dept Hlth Policy & Management, Little Rock, AR 72205 USA.
RP Hoefman, R (reprint author), Erasmus Univ, Inst Hlth Policy & Management, POB 1738, NL-3000 DR Rotterdam, Netherlands.
EM hoefman@bmg.eur.nl
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NR 57
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 AUG
PY 2014
VL 44
IS 8
BP 1933
EP 1945
DI 10.1007/s10803-014-2066-1
PG 13
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400012
PM 24577786
ER
PT J
AU Medeiros, K
Winsler, A
AF Medeiros, Kristen
Winsler, Adam
TI Parent-Child Gesture Use During Problem Solving in Autistic Spectrum
Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Gesture; Receptive communication; Parent-child
interaction
ID JOINT ATTENTION; YOUNG-CHILDREN; COMMUNICATION DEVELOPMENT;
NONVERBAL-COMMUNICATION; LANGUAGE-DEVELOPMENT; PRESCHOOL-CHILDREN;
INFANT INTERACTION; INTERVENTION; SKILLS; BEHAVIORS
AB This study examined the relationship between child language skills and parent and child gestures of 58 youths with and without an autism spectrum disorder (ASD) diagnosis. Frequencies and rates of total gesture use as well as five categories of gestures (deictic, conventional, beat, iconic, and metaphoric) were reliably coded during the collaborative Tower of Hanoi task. Children with ASD had lower Peabody Picture Vocabulary Test scores and gestured less and at lower rates compared to typically developing children. Gesture use was unrelated to vocabulary for typically developing children, but positively associated with vocabulary for those with ASD. Demographic correlates of gesturing differed by group. Gesture may be a point of communication intervention for families with children with ASD.
C1 [Medeiros, Kristen] SUNY Coll New Paltz, New Paltz, NY 12561 USA.
[Winsler, Adam] George Mason Univ, Dept Psychol 3F5, Fairfax, VA 22030 USA.
RP Medeiros, K (reprint author), SUNY Coll New Paltz, 600 Hawk Dr,JFT 306, New Paltz, NY 12561 USA.
EM medeirok@newpaltz.edu; awinsler@gmu.edu
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NR 77
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 AUG
PY 2014
VL 44
IS 8
BP 1946
EP 1958
DI 10.1007/s10803-014-2069-y
PG 13
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400013
PM 24535577
ER
PT J
AU van den Bergh, SFWM
Scheeren, AM
Begeer, S
Koot, HM
Geurts, HM
AF van den Bergh, Sanne F. W. M.
Scheeren, Anke M.
Begeer, Sander
Koot, Hans M.
Geurts, Hilde M.
TI Age Related Differences of Executive Functioning Problems in Everyday
Life of Children and Adolescents in the Autism Spectrum
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE ASD; Autism severity; Behavioral Rating Inventory Executive Functions
(BRIEF); Development; Executive functioning
ID BEHAVIOR RATING INVENTORY; LATENT-VARIABLE ANALYSIS; SPATIAL
WORKING-MEMORY; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT
HYPERACTIVITY DISORDER; MULTIPLE CASE SERIES; DEVELOPMENTAL DISORDERS;
CENTRAL COHERENCE; LATE CHILDHOOD; REAL-WORLD
AB Numerous studies investigated executive functioning (EF) problems in people with autism spectrum disorders (ASD) using laboratory EF tasks. As laboratory task performances often differ from real life observations, the current study focused on EF in everyday life of 118 children and adolescents with ASD (6-18 years). We investigated age-related and individual differences in EF problems as reported by parents on the Behavioral Rating Inventory Executive Functions (BRIEF: Gioia et al. in Behavior rating inventory of executive function. Psychological Assessment Resources, Odesse 2000), and examined the association with autism severity. Inhibition problems were mostly found in the youngest group (6- to 8-year-olds), whereas problems with planning where more evident for 12- to 14-year-olds as compared to 9- to 11-year-olds. In a subsample of participants meeting the ADOS ASD cut-off criteria the age related differences in planning were absent, while problems with cognitive flexibility were less apparent in 15- to 18-year-olds, compared to 9- to 11-, and 12- to 14-year olds. EF problems surpassing the clinical cutoff were only observed in 20 % (planning) to 51 % (cognitive flexibility) of the children and adolescents, and no relation was found with ASD symptom severity. This underlines the heterogeneous nature of ASD.
C1 [van den Bergh, Sanne F. W. M.; Geurts, Hilde M.] Dr Leo Kannerhuis, Autism Clin, Res & Dev, NL-6865 XZ Doorwerth, Netherlands.
[van den Bergh, Sanne F. W. M.; Geurts, Hilde M.] Univ Amsterdam, Dept Psychol Brain & Cognit, Amsterdam, Netherlands.
[van den Bergh, Sanne F. W. M.; Geurts, Hilde M.] Dutch Autism & ADHD Res Ctr dArc, NL-1018 XA Amsterdam, Netherlands.
[Scheeren, Anke M.; Begeer, Sander; Koot, Hans M.] Vrije Univ Amsterdam, Dept Dev Psychol, Amsterdam, Netherlands.
[Scheeren, Anke M.; Begeer, Sander; Koot, Hans M.] ARA, Amsterdam, Netherlands.
[Scheeren, Anke M.; Begeer, Sander; Koot, Hans M.] EMGO Inst Hlth & Care Res, NL-1081 BT Amsterdam, Netherlands.
[Begeer, Sander] Univ Sydney, Sch Psychol, Sydney, NSW 2006, Australia.
[Geurts, Hilde M.] Cognit Sci Ctr Amsterdam, NL-1018 WS Amsterdam, Netherlands.
RP Geurts, HM (reprint author), Dr Leo Kannerhuis, Autism Clin, Res & Dev, Houtsniplaan 1, NL-6865 XZ Doorwerth, Netherlands.
EM s.f.w.m.vandenbergh@uva.nl; h.m.geurts@uva.nl
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NR 76
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 AUG
PY 2014
VL 44
IS 8
BP 1959
EP 1971
DI 10.1007/s10803-014-2071-4
PG 13
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400014
PM 24562693
ER
PT J
AU Filipe, MG
Frota, S
Castro, SL
Vicente, SG
AF Filipe, Marisa G.
Frota, Sonia
Castro, Sao Luis
Vicente, Selene G.
TI Atypical Prosody in Asperger Syndrome: Perceptual and Acoustic
Measurements
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Asperger syndrome; Atypical prosody; Autism spectrum disorders;
Intonation
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; AUTOMATED
VOCAL ANALYSIS; LANGUAGE-ACQUISITION; SPECTRUM DISORDERS; REVISED
VERSION; CHILDREN; INTONATION; SPEECH; ADOLESCENTS
AB It is known that individuals with Asperger syndrome (AS) may show no problems with regard to what is said (e.g., lexical content) but tend to have difficulties in how utterances are produced, i.e., they may show prosodic impairments. In the present study, we focus on the use of prosodic features to express grammatical meaning. Specifically, we explored the sentence type difference between statements and questions that is conveyed by intonation, using perceptual and acoustic measurements. Children aged 8 and 9 years with AS (n = 12) were matched according to age and nonverbal intelligence with typically developing peers (n = 17). Although children with AS could produce categorically accurate prosodic patterns, their prosodic contours were perceived as odd by adult listeners, and acoustic measurements showed alterations in duration and pitch. Additionally, children with AS had greater variability in fundamental frequency contours compared to typically developing peers.
C1 [Filipe, Marisa G.; Castro, Sao Luis; Vicente, Selene G.] Univ Porto, Fac Psychol & Educ Sci, Speech Lab, P-4200135 Oporto, Portugal.
[Frota, Sonia] Univ Lisbon, Ctr Linguist, P-1600214 Lisbon, Portugal.
RP Filipe, MG (reprint author), Univ Porto, Fac Psychol & Educ Sci, Speech Lab, Rua Alfredo Allen, P-4200135 Oporto, Portugal.
EM labfala@fpce.up.pt
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NR 58
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 AUG
PY 2014
VL 44
IS 8
BP 1972
EP 1981
DI 10.1007/s10803-014-2073-2
PG 10
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400015
PM 24590408
ER
PT J
AU Zainal, H
Magiati, I
Tan, JWL
Sung, M
Fung, DSS
Howlin, P
AF Zainal, Hani
Magiati, Iliana
Tan, Julianne Wen-Li
Sung, Min
Fung, Daniel S. S.
Howlin, Patricia
TI A Preliminary Investigation of the Spence Children's Anxiety Parent
Scale as a Screening Tool for Anxiety in Young People with Autism
Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Anxiety; Assessment; Screening; Psychometric;
Measurement
ID PERVASIVE DEVELOPMENTAL DISORDERS; HIGH-FUNCTIONING CHILDREN;
PSYCHOMETRIC PROPERTIES; ASPERGER-SYNDROME; DISCRIMINANT VALIDITY;
PSYCHIATRIC-DISORDERS; INTERVIEW SCHEDULE; CONTROLLED-TRIAL;
ADOLESCENTS; YOUTH
AB Despite high rates of clinically elevated anxiety difficulties in children and adolescents with autism spectrum disorders (ASDs), very few studies have systematically examined the usefulness of commonly used caregiver report anxiety screening tools with this population. This study investigated the use of the Spence Children's Anxiety Scale-Parent version (SCAS-P) as a screening tool for anxiety disorders when compared to a standardized DSM-IV-TR-based clinical interview, the Kiddie-Schedule for Schizophrenia and Affective Disorders-Present and Lifetime version (K-SADS-PL). Thirty-two caregivers of youth with a clinical diagnosis of ASD (mean age 10.3 years) attending a specialist autism school participated in this study. They first completed the SCAS-P, a measure of adaptive functioning and a checklist of other emotional and behavioral difficulties. They were then interviewed with the K-SADS-PL. Internal consistency for the SCAS Total score was .88, but Cronbach's alphas were <.70 in three of the six SCAS-P subscales. The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of the SCAS-P against K-SADS diagnosis were .75, .71, .27, and .95, respectively. All values were >.70, except for the PPV. Evidence of convergent validity between the SCAS-P, K-SADS-PL and DBC anxiety subscale was also found. The high false positive rates notwithstanding, the preliminary data of acceptable to excellent sensitivity, specificity and NPV values tentatively suggest that the SCAS-P may be useful for screening non-help seeking young people with ASD for elevated anxiety symptoms. Further replication in larger studies is needed and ways in which the SCAS-P could be further developed and investigated for use with youth with ASD are discussed.
C1 [Zainal, Hani; Magiati, Iliana; Tan, Julianne Wen-Li] Natl Univ Singapore, Dept Psychol, Singapore 117570, Singapore.
[Sung, Min; Fung, Daniel S. S.] Inst Mental Hlth, Dept Child & Adolescent Psychiat, Buangkok, Singapore.
[Howlin, Patricia] Kings Coll London, Fac Hlth Sci, Inst Psychiat, London WC2R 2LS, England.
[Howlin, Patricia] Univ Sydney, Sydney, NSW 2006, Australia.
RP Magiati, I (reprint author), Natl Univ Singapore, Dept Psychol, AS4,9 Arts Link, Singapore 117570, Singapore.
EM psyim@nus.edu.sg
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NR 82
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 AUG
PY 2014
VL 44
IS 8
BP 1982
EP 1994
DI 10.1007/s10803-014-2075-0
PG 13
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400016
PM 24573336
ER
PT J
AU Zainal, H
Magiati, I
Tan, JWL
Sung, M
Fung, DSS
Howlin, P
AF Zainal, Hani
Magiati, Iliana
Tan, Julianne Wen-Li
Sung, Min
Fung, Daniel S. S.
Howlin, Patricia
TI A Preliminary Investigation of the Spence Children's Anxiety Parent
Scale as a Screening Tool for Anxiety in Young People with Autism
Spectrum Disorders (vol 44, pg 1982, 2014)
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Correction
C1 [Zainal, Hani; Magiati, Iliana; Tan, Julianne Wen-Li] Natl Univ Singapore, Dept Psychol, Singapore 117570, Singapore.
[Sung, Min; Fung, Daniel S. S.] Inst Mental Hlth, Dept Child & Adolescent Psychiat, Buangkok, Singapore.
[Howlin, Patricia] Kings Coll London, Inst Psychiat, London WC2R 2LS, England.
[Howlin, Patricia] Univ Sydney, Fac Hlth Sci, Sydney, NSW 2006, Australia.
RP Magiati, I (reprint author), Natl Univ Singapore, Dept Psychol, AS4,9 Arts Link, Singapore 117570, Singapore.
EM psyim@nus.edu.sg
CR Zainal H, 2014, J AUTISM DEV DISORD, V44, P1982, DOI 10.1007/s10803-014-2075-0
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 AUG
PY 2014
VL 44
IS 8
BP 1995
EP 1995
DI 10.1007/s10803-014-2090-1
PG 1
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400017
ER
PT J
AU Hus, V
Lord, C
AF Hus, Vanessa
Lord, Catherine
TI The Autism Diagnostic Observation Schedule, Module 4: Revised Algorithm
and Standardized Severity Scores
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Autism Diagnostic Observation Schedule;
Adults; Severity
ID SPECTRUM DISORDERS; ADULTS; INDIVIDUALS; ADOLESCENTS; INTERVIEW;
OUTCOMES; CHILDREN; AVERAGE; SCALE; IQ
AB The recently published Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2) includes revised diagnostic algorithms and standardized severity scores for modules used to assess younger children. A revised algorithm and severity scores are not yet available for Module 4, used with verbally fluent adults. The current study revises the Module 4 algorithm and calibrates raw overall and domain totals to provide metrics of autism spectrum disorder (ASD) symptom severity. Sensitivity and specificity of the revised Module 4 algorithm exceeded 80 % in the overall sample. Module 4 calibrated severity scores provide quantitative estimates of ASD symptom severity that are relatively independent of participant characteristics. These efforts increase comparability of ADOS scores across modules and should facilitate efforts to examine symptom trajectories from toddler to adulthood.
C1 [Hus, Vanessa; Lord, Catherine] Univ Michigan, Dept Psychol, Ann Arbor, MI 48109 USA.
[Hus, Vanessa; Lord, Catherine] Univ Michigan, Autism & Commun Disorders Ctr, Ann Arbor, MI 48109 USA.
RP Hus, V (reprint author), Univ Michigan, Dept Psychol, 530 Church St, Ann Arbor, MI 48109 USA.
EM vhus@umich.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 47
TC 5
Z9 5
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 AUG
PY 2014
VL 44
IS 8
BP 1996
EP 2012
DI 10.1007/s10803-014-2080-3
PG 17
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400018
PM 24590409
ER
PT J
AU Frazier, TW
Thompson, L
Youngstrom, EA
Law, P
Hardan, AY
Eng, C
Morris, N
AF Frazier, Thomas W.
Thompson, Lee
Youngstrom, Eric A.
Law, Paul
Hardan, Antonio Y.
Eng, Charis
Morris, Nathan
TI A Twin Study of Heritable and Shared Environmental Contributions to
Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Twins; Genetic; Heritability; Environment; Diagnosis
ID DE-NOVO MUTATIONS; MULTIPLE-REGRESSION ANALYSIS; COPY-NUMBER-VARIATION;
SPECTRUM DISORDERS; GENERAL-POPULATION; GENETIC ETIOLOGY;
INDIVIDUAL-DIFFERENCES; PATERNAL AGE; RISK-FACTORS; TRAITS
AB The present study examined genetic and shared environment contributions to quantitatively-measured autism symptoms and categorically-defined autism spectrum disorders (ASD). Participants included 568 twins from the Interactive Autism Network. Autism symptoms were obtained using the Social Communication Questionnaire and Social Responsiveness Scale. Categorically-defined ASD was based on clinical diagnoses. DeFries-Fulker and liability threshold models examined etiologic influences. Very high heritability was observed for extreme autism symptom levels (). Extreme levels of social and repetitive behavior symptoms were strongly influenced by common genetic factors. Heritability of categorically-defined ASD diagnosis was comparatively low (.21, 95 % CI 0.15-0.28). High heritability of extreme autism symptom levels confirms previous observations of strong genetic influences on autism. Future studies will require large, carefully ascertained family pedigrees and quantitative symptom measurements.
C1 [Frazier, Thomas W.] Cleveland Clin, Ctr Autism, Cleveland, OH 44195 USA.
[Frazier, Thomas W.; Eng, Charis] Cleveland Clin, Genom Med Inst, Cleveland, OH 44195 USA.
[Thompson, Lee] Case Western Reserve Univ, Dept Psychol Sci, Cleveland, OH 44106 USA.
[Youngstrom, Eric A.] Univ N Carolina, Dept Psychol, Chapel Hill, NC USA.
[Law, Paul] Kennedy Krieger Inst, Dept Med Informat, Baltimore, MD USA.
[Law, Paul] Kennedy Krieger Inst, Interact Autism Network, Baltimore, MD USA.
[Hardan, Antonio Y.] Dept Psychiat & Behav Sci, Stanford, CA USA.
[Eng, Charis] Case Western Reserve Univ, Dept Genet, Cleveland, OH 44106 USA.
[Morris, Nathan] Case Western Reserve Univ, Dept Epidemiol & Biostat, Cleveland, OH 44106 USA.
RP Frazier, TW (reprint author), Cleveland Clin, Ctr Autism, 9500 Euclid Ave, Cleveland, OH 44195 USA.
EM fraziet2@ccf.org
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NR 88
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 AUG
PY 2014
VL 44
IS 8
BP 2013
EP 2025
DI 10.1007/s10803-014-2081-2
PG 13
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400019
PM 24604525
ER
PT J
AU Doobay, AF
Foley-Nicpon, M
Ali, SR
Assouline, SG
AF Doobay, Alissa F.
Foley-Nicpon, Megan
Ali, Saba R.
Assouline, Susan G.
TI Cognitive, Adaptive, and Psychosocial Differences Between High Ability
Youth With and Without Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Gifted; Intelligence; Adaptive functioning; Psychosocial
ID HIGH-FUNCTIONING AUTISM; DEFICIT HYPERACTIVITY DISORDER;
INTELLECTUALLY-GIFTED-CHILDREN; ASPERGER-SYNDROME; COMMUNICATION
ABILITIES; PROCESSING SPEED; LEARNING-DISABILITIES/; WISC-IV;
INDIVIDUALS; STUDENTS
AB Research on Autism Spectrum Disorder (ASD) is thriving; however, scant empirical research has investigated how ASD manifests in high ability youth. Further research is necessary to accurately differentiate high ability students with ASD from those without the disorder, and thus decrease the risk of misdiagnosis. The purpose of the present study is to provide an empirical account of the intellectual, adaptive, and psychosocial functioning of high ability youth with and without ASD utilizing a group study design. Forty youth with high cognitive ability and ASD and a control group of 41 youth with high cognitive ability and no psychological diagnosis were included in the study. In comparison to the control group, the ASD group showed poorer functioning on measures of processing speed, adaptive skills, and broad psychological functioning, as perceived by parents and teachers. These findings have significant implications for diagnosing ASD among those with high ability, and the development of related psychological and educational interventions to address talent domains and areas of concern.
C1 [Doobay, Alissa F.; Foley-Nicpon, Megan; Assouline, Susan G.] Univ Iowa, Iowa City, IA 52242 USA.
[Ali, Saba R.] Univ Iowa, Iowa City, IA 52242 USA.
RP Doobay, AF (reprint author), Univ Iowa, 600 Blank Honors Ctr, Iowa City, IA 52242 USA.
EM alissa-doobay@uiowa.edu
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American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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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 AUG
PY 2014
VL 44
IS 8
BP 2026
EP 2040
DI 10.1007/s10803-014-2082-1
PG 15
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400020
PM 24584434
ER
PT J
AU McGillivray, JA
Evert, HT
AF McGillivray, J. A.
Evert, H. T.
TI Group Cognitive Behavioural Therapy Program Shows Potential in Reducing
Symptoms of Depression and Stress Among Young People with ASD
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism Spectrum Disorder; CBT intervention; Group; Anxiety; Depression;
Stress; Negative and anxious self talk
ID AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; RANDOMIZED
CONTROLLED-TRIAL; ASPERGER-SYNDROME; ANXIETY DISORDERS; SELF-STATEMENTS;
CHILDREN; INTERVENTION; YOUTH; CBT
AB We examined the efficacy of cognitive behavioural therapy (CBT) delivered in groups on the reduction of symptoms of depression, anxiety and stress in young people on the autism spectrum. Utilising a quasi-experimental design, comparisons were made between individuals allocated to a group intervention program and individuals allocated to a waitlist. Following the intervention program, participants who were initially symptomatic reported significantly lower depression and stress scores on the Depression Anxiety Stress Scales in comparison to individuals on the waitlist. There was no significant change in anxiety related symptoms. The benefits were maintained at 3 and 9 month follow-up. Our findings demonstrate the potential of CBT in a small group setting for assisting young people with ASD who have symptoms of depression and stress.
C1 [McGillivray, J. A.; Evert, H. T.] Deakin Univ, Sch Psychol, Ctr Mental Hlth & Wellbeing Res, Burwood, Vic 3125, Australia.
RP McGillivray, JA (reprint author), Deakin Univ, Sch Psychol, Ctr Mental Hlth & Wellbeing Res, 221 Burwood Highway, Burwood, Vic 3125, Australia.
EM jane.mcgillivray@deakin.edu.au
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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 AUG
PY 2014
VL 44
IS 8
BP 2041
EP 2051
DI 10.1007/s10803-014-2087-9
PG 11
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400021
PM 24634065
ER
PT J
AU Zhang, W
Yan, TT
Du, YS
Liu, XH
AF Zhang, Wei
Yan, Ting-ting
Du, Ya-song
Liu, Xiao-hong
TI Brief Report: Effects of Solution-Focused Brief Therapy Group-Work on
Promoting Post-traumatic Growth of Mothers Who Have a Child with ASD
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Mothers; Post-traumatic growth; Solution-focused brief therapy; Group
counseling
ID AUTISM SPECTRUM DISORDER; SOCIAL SUPPORT; STRESS; OPTIMISM
AB The study evaluated the impact of solution-focused brief therapy (SFBT) group-work on the post-traumatic growth (PTG) of mothers who have a child with ASD. A quasi-experimental design was used in which 43 mothers participated. 18 mothers in 2 SFBT groups (n = 9 in each group) received a 6-session SFBT group therapy while 25 mothers in a control group received no treatment. The Post-traumatic Growth Inventory was used to measure the PTG levels of the participants at baseline, post-treatment and 6-month follow-up assessments. Mothers who attended SFBT group-work reported higher PTG scores both at post-treatment (t = 4.065, p = .001) and 6-month follow-up (t = 2.980, p = .006) assessments. Further investigations to prove whether SFBT in groups can increase the positivity of clients would promote the use of SFBT.
C1 [Zhang, Wei; Yan, Ting-ting; Liu, Xiao-hong] Second Mil Med Univ, Sch Nursing, Shanghai 200433, Peoples R China.
[Du, Ya-song] Shanghai Mental Hlth Ctr, Shanghai, Peoples R China.
RP Liu, XH (reprint author), Second Mil Med Univ, Sch Nursing, 800 Xiangyin Rd, Shanghai 200433, Peoples R China.
EM xiaohongsmmu@126.com
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NR 20
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 AUG
PY 2014
VL 44
IS 8
BP 2052
EP 2056
DI 10.1007/s10803-014-2051-8
PG 5
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400022
PM 24488119
ER
PT J
AU Nuske, HJ
Vivanti, G
Dissanayake, C
AF Nuske, Heather J.
Vivanti, Giacomo
Dissanayake, Cheryl
TI Brief Report: Evidence for Normative Resting-State Physiology in Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Resting-state physiology; Autism; Pupillometry; Baseline; Eye-tracking;
Autonomic nervous system
ID SPECTRUM DISORDERS; AUTONOMIC RESPONSES; PUPIL SIZE; CHILDREN;
REACTIVITY; LANGUAGE; AROUSAL; FACES
AB Although the conception of autism as a disorder of abnormal resting-state physiology has a long history, the evidence remains mixed. Using state-of-the-art eye-tracking pupillometry, resting-state (tonic) pupil size was measured in children with and without autism. No group differences in tonic pupil size were found, and tonic pupil size was not related to age or cognitive ability in either group, and nor was it related to autistic symptoms. We suggest that previous findings of hyper-arousal in autism at baseline may be a product of different recording methods, in particular different movement-artifact removal techniques. These results question the notion that autism is associated with a fundamental dysregulation in resting-state physiology. Further research, employing such techniques is needed to confirm these findings.
C1 [Nuske, Heather J.; Vivanti, Giacomo; Dissanayake, Cheryl] La Trobe Univ, Olga Tennison Autism Res Ctr, Sch Psychol Sci, Melbourne, Vic 3086, Australia.
[Vivanti, Giacomo] La Trobe Univ, Victorian Autism Specif Early Learning & Care Ctr, Melbourne, Vic 3086, Australia.
RP Dissanayake, C (reprint author), La Trobe Univ, Olga Tennison Autism Res Ctr, Sch Psychol Sci, Melbourne, Vic 3086, Australia.
EM h.nuske@latrobe.edu.au; g.vivanti@latrobe.edu.au;
c.dissanayake@latrobe.edu.au
CR American Psychiatric Association, 2000, DIAGNOSTIC AND STATI
American Psychiatric Association, 2013, DIAGNOSTIC AND STATI
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NR 39
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 AUG
PY 2014
VL 44
IS 8
BP 2057
EP 2063
DI 10.1007/s10803-014-2068-z
PG 7
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400023
PM 24550080
ER
PT J
AU Hartley, C
Allen, ML
AF Hartley, Calum
Allen, Melissa L.
TI Brief Report: Generalisation of Word-Picture Relations in Children with
Autism and Typically Developing Children
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Words; Understanding pictures; Generalisation; Shape bias;
Colour
ID DISORDERS; COMMUNICATION; LANGUAGE; SHAPE
AB We investigated whether low-functioning children with autism generalise labels from colour photographs based on sameness of shape, colour, or both. Children with autism and language-matched controls were taught novel words paired with photographs of unfamiliar objects, and then sorted pictures and objects into two buckets according to whether or not they were also referents of the newly-learned labels. Stimuli matched depicted referents on shape and/or colour. Children with autism extended labels to items that matched depicted objects on shape and colour, but also frequently generalised to items that matched on only shape or colour. Controls only generalised labels to items that matched the depicted referent's shape. Thus, low-functioning children with autism may not understand that shape constrains symbolic word-picture-object relations.
C1 [Hartley, Calum; Allen, Melissa L.] Univ Lancaster, Dept Psychol, Lancaster LA1 4YF, Lancs, England.
RP Hartley, C (reprint author), Univ Lancaster, Dept Psychol, Lancaster LA1 4YF, Lancs, England.
EM hartleyc@exchange.lancs.ac.uk
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NR 22
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 AUG
PY 2014
VL 44
IS 8
BP 2064
EP 2071
DI 10.1007/s10803-014-2074-1
PG 8
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400024
PM 24557810
ER
PT J
AU Fernell, E
Wilson, P
Hadjikhani, N
Bourgeron, T
Neville, B
Taylor, D
Minnis, H
Gillberg, C
AF Fernell, Elisabeth
Wilson, Philip
Hadjikhani, Nouchine
Bourgeron, Thomas
Neville, Brian
Taylor, David
Minnis, Helen
Gillberg, Christopher
TI Screening, Intervention and Outcome in Autism and Other Developmental
Disorders: The Role of Randomized Controlled Trials
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Letter
DE Developmental disorders; Autism; Screening; Randomized controlled
trials; Intervention
AB We draw attention to a number of important considerations in the arguments about screening and outcome of intervention in children with autism and other developmental disorders. Autism screening in itself never provides a final clinical diagnosis, but may well identify developmental deviations indicative of autism-or of other developmental disorders-that should lead to referral for further clinical assessment. Decisions regarding population or clinic screening cannot be allowed to be based on the fact that prospective longitudinal RCT designs over decades could never be performed in complex developmental disorders. We propose an alternative approach. Early screening for autism and other developmental disorders is likely to be of high societal importance and should be promoted and rigorously evaluated.
C1 [Fernell, Elisabeth; Wilson, Philip; Hadjikhani, Nouchine; Bourgeron, Thomas; Neville, Brian; Taylor, David; Minnis, Helen; Gillberg, Christopher] Gothenburg Univ, Sahlgrenska Acad, Gillberg Neuropsychiat Ctr, Gothenburg, Sweden.
[Wilson, Philip] Univ Aberdeen, Ctr Hlth Sci, Ctr Rural Hlth, Inverness, Scotland.
[Hadjikhani, Nouchine] Harvard Univ, Sch Med, Athinoula A Martinos Ctr Biomed Imaging, Charlestown, MA USA.
[Bourgeron, Thomas] Inst Pasteur, Human Genet & Cognit Funct Unit, Paris, France.
[Neville, Brian] UCL Inst Child Hlth, Neurosci Unit, London WC1N 3LU, England.
[Neville, Brian] Young Epilepsy, Lingfield RH7 6PW, Surrey, England.
[Taylor, David] Univ Manchester, Dept Psychiat & Behav Sci, Manchester, Lancs, England.
[Minnis, Helen; Gillberg, Christopher] Univ Glasgow, Inst Hlth & Wellbeing, Glasgow, Lanark, Scotland.
[Gillberg, Christopher] UCL Inst Child Hlth, London WC1N 3LU, England.
RP Fernell, E (reprint author), Gothenburg Univ, Sahlgrenska Acad, Gillberg Neuropsychiat Ctr, Gothenburg, Sweden.
EM elisabeth.fernell@neuro.gu.se
CR Allaby M., 2011, SCREENING A IN PRESS
Gillberg C, 2010, RES DEV DISABIL, V31, P1543, DOI 10.1016/j.ridd.2010.06.002
Graham HK, 2007, DEV MED CHILD NEUROL, V49, P163
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Weijer C, 2012, PLOS MED, V9, DOI 10.1371/journal.pmed.1001346
NR 9
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 AUG
PY 2014
VL 44
IS 8
BP 2074
EP 2076
DI 10.1007/s10803-014-2070-5
PG 3
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400026
PM 24554162
ER
PT J
AU Piven, J
Sasson, NJ
AF Piven, Joseph
Sasson, Noah J.
TI On the Misapplication of the Broad Autism Phenotype Questionnaire in a
Study of Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Letter
C1 [Piven, Joseph] Univ N Carolina, Chapel Hill, NC 27514 USA.
[Sasson, Noah J.] Univ Texas Dallas, Richardson, TX 75083 USA.
RP Piven, J (reprint author), Univ N Carolina, Chapel Hill, NC 27514 USA.
EM joe_piven@med.unc.edu; nsasson@utdallas.edu
CR Hurley RSE, 2007, J AUTISM DEV DISORD, V37, P1679, DOI 10.1007/s10803-006-0299-3
Nishiyama T, 2014, J AUTISM DEV DISORD, V44, P993, DOI 10.1007/s10803-013-2020-7
Piven J, 1997, AM J MED GENET, V74, P398, DOI 10.1002/(SICI)1096-8628(19970725)74:4<398::AID-AJMG11>3.0.CO;2-D
Piven J., 2002, MOL GENETICS HUMAN P, P43
Sasson NJ, 2013, AUTISM RES, V6, P134, DOI 10.1002/aur.1272
NR 5
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 AUG
PY 2014
VL 44
IS 8
BP 2077
EP 2078
DI 10.1007/s10803-014-2076-z
PG 2
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400027
PM 24554163
ER
PT J
AU Nishiyama, T
Kanne, SM
AF Nishiyama, Takeshi
Kanne, Stephen M.
TI On the Misapplication of the BAPQ in a Study of Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Letter
ID SPECTRUM DISORDER; QUESTIONNAIRE; CRITERIA
C1 [Nishiyama, Takeshi] Aichi Med Univ, Dept Publ Hlth, Sch Med, Nagakute, Aichi 4801195, Japan.
[Kanne, Stephen M.] Univ Missouri, Dept Hlth Psychol, Columbia, MO USA.
[Kanne, Stephen M.] Univ Missouri, Thompson Ctr Autism & Neurodev Disorders, Columbia, MO USA.
RP Nishiyama, T (reprint author), Aichi Med Univ, Dept Publ Hlth, Sch Med, 1-1 Yazako, Nagakute, Aichi 4801195, Japan.
EM nishiyama@minos.ocn.ne.jp
CR Frazier TW, 2012, J AM ACAD CHILD PSY, V51, P28, DOI 10.1016/j.jaac.2011.09.021
Hurley RSE, 2007, J AUTISM DEV DISORD, V37, P1679, DOI 10.1007/s10803-006-0299-3
Kanne SM, 2012, J AUTISM DEV DISORD, V42, P769, DOI 10.1007/s10803-011-1308-8
Mandy WPL, 2012, J AM ACAD CHILD PSY, V51, P41, DOI 10.1016/j.jaac.2011.10.013
NR 4
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 AUG
PY 2014
VL 44
IS 8
BP 2079
EP 2080
DI 10.1007/s10803-014-2077-y
PG 2
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400028
PM 24554164
ER
PT J
AU VanBergeijk, EO
AF VanBergeijk, Ernst Oliver
TI Carly's Voice: Breaking Through Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Book Review
C1 [VanBergeijk, Ernst Oliver] New York Inst Technol, Vocat Independence Program, New York, NY 11722 USA.
RP VanBergeijk, EO (reprint author), New York Inst Technol, Vocat Independence Program, 300 Carleton Ave,Room 112 Independence Hall, New York, NY 11722 USA.
EM evanberg@nyit.edu
CR FLEISCHMANN A, 2012, CARLYS VOICE BREAKIN
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 AUG
PY 2014
VL 44
IS 8
BP 2084
EP 2085
DI 10.1007/s10803-014-2054-5
PG 2
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400030
ER
PT J
AU McGrath, LM
Yu, DM
Marshall, C
Davis, LK
Thiruvahindrapuram, B
Li, BB
Cappi, C
Gerber, G
Wolf, A
Schroeder, FA
Osiecki, L
O'Dushlaine, C
Kirby, A
Illmann, C
Haddad, S
Gallagher, P
Fagerness, JA
Barr, CL
Bellodi, L
Benarroch, F
Bienvenu, OJ
Black, DW
Bloch, MH
Bruun, RD
Budman, CL
Camarena, B
Cath, DC
Cavallini, MC
Chouinard, S
Coric, V
Cullen, B
Delorme, R
Denys, D
Derks, EM
Dion, Y
Rosario, MC
Eapen, V
Evans, P
Falkai, P
Fernandez, TV
Garrido, H
Geller, D
Grabe, HJ
Grados, MA
Greenberg, BD
Gross-Tsur, V
Gruenblatt, E
Heiman, GA
Hemmings, SMJ
Herrera, LD
Hounie, AG
Jankovic, J
Kennedy, JL
King, RA
Kurlan, R
Lanzagorta, N
Leboyer, M
Leckman, JF
Lennertz, L
Lochner, C
Lowe, TL
Lyon, GJ
Macciardi, F
Maier, W
McCracken, JT
McMahon, W
Murphy, DL
Naarden, AL
Neale, BM
Nurmi, E
Pakstis, AJ
Pato, MT
Pato, CN
Piacentini, J
Pittenger, C
Pollak, Y
Reus, VI
Richter, MA
Riddle, M
Robertson, MM
Rosenberg, D
Rouleau, GA
Ruhrmann, S
Sampaio, AS
Samuels, J
Sandor, P
Sheppard, B
Singer, HS
Smit, JH
Stein, DJ
Tischrield, JA
Vallada, H
Veenstra-VanderWeele, J
Walitza, S
Wang, Y
Wendfand, JR
Shugart, YY
Miguel, EC
Nicolini, H
Oostra, BA
Moessner, R
Wagner, M
Ruiz-Linares, A
Heutink, P
Nestadt, G
Freimer, N
Petryshen, T
Posthuma, D
Jenike, MA
Cox, NJ
Hanna, GL
Brentani, H
Scherer, SW
Arnold, PD
Stewart, SE
Mathews, CA
Knowles, JA
Cook, EH
Pauls, DL
Wang, K
Scharf, JM
AF McGrath, Lauren M.
Yu, Dongmei
Marshall, Christian
Davis, Lea K.
Thiruvahindrapuram, Bhooma
Li, Bingbin
Cappi, Carolina
Gerber, Gloria
Wolf, Aaron
Schroeder, Frederick A.
Osiecki, Lisa
O'Dushlaine, Colm
Kirby, Andrew
Illmann, Cornelia
Haddad, Stephen
Gallagher, Patience
Fagerness, Jesen A.
Barr, Cathy L.
Bellodi, Laura
Benarroch, Fortu
Bienvenu, O. Joseph
Black, Donald W.
Bloch, Michael H.
Bruun, Ruth D.
Budman, Cathy L.
Camarena, Beatriz
Cath, Danielle C.
Cavallini, Maria C.
Chouinard, Sylvain
Coric, Vladimir
Cullen, Bernadette
Delorme, Richard
Denys, Damiaan
Derks, Eske M.
Dion, Yves
Rosario, Maria C.
Eapen, Valsama
Evans, Patrick
Falkai, Peter
Fernandez, Thomas V.
Garrido, Helena
Geller, Daniel
Grabe, Hans J.
Grados, Marco A.
Greenberg, Benjamin D.
Gross-Tsur, Varda
Gruenblatt, Edna
Heiman, Gary A.
Hemmings, Sian M. J.
Herrera, Luis D.
Hounie, Ana G.
Jankovic, Joseph
Kennedy, James L.
King, Robert A.
Kurlan, Roger
Lanzagorta, Nuria
Leboyer, Marion
Leckman, James F.
Lennertz, Leonhard
Lochner, Christine
Lowe, Thomas L.
Lyon, Gholson J.
Macciardi, Fabio
Maier, Wolfgang
McCracken, James T.
McMahon, William
Murphy, Dennis L.
Naarden, Allan L.
Neale, Benjamin M.
Nurmi, Erika
Pakstis, Andrew J.
Pato, Michele T.
Pato, Carlos N.
Piacentini, John
Pittenger, Christopher
Pollak, Yehuda
Reus, Victor I.
Richter, Margaret A.
Riddle, Mark
Robertson, Mary M.
Rosenberg, David
Rouleau, Guy A.
Ruhrmann, Stephan
Sampaio, Aline S.
Samuels, Jack
Sandor, Paul
Sheppard, Brooke
Singer, Harvey S.
Smit, Jan H.
Stein, Dan J.
Tischrield, Jay A.
Vallada, Homero
Veenstra-VanderWeele, Jeremy
Walitza, Susanne
Wang, Ying
Wendfand, Jens R.
Shugart, Yin Yao
Miguel, Euripedes C.
Nicolini, Humberto
Oostra, Ben A.
Moessner, Rainald
Wagner, Michael
Ruiz-Linares, Andres
Heutink, Peter
Nestadt, Gerald
Freimer, Nelson
Petryshen, Tracey
Posthuma, Danielle
Jenike, Michael A.
Cox, Nancy J.
Hanna, Gregory L.
Brentani, Helena
Scherer, Stephen W.
Arnold, Paul D.
Stewart, S. Evelyn
Mathews, Carol A.
Knowles, James A.
Cook, Edwin H.
Pauls, David L.
Wang, Kai
Scharf, Jeremiah M.
TI Copy Number Variation in Obsessive-Compulsive Disorder and Tourette
Syndrome: A Cross-Disorder Study
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE Tourette syndrome; obsessive-compulsive disorder; copy number variation;
genetics; 16p13.11
ID RARE CHROMOSOMAL DELETIONS; GENOME-WIDE ASSOCIATION; DE-NOVO CNVS;
DEVELOPMENTAL-DISABILITIES; 16P13.11 PREDISPOSE; VARIANTS; DUPLICATIONS;
AUTISM; SCHIZOPHRENIA; GENETICS
AB Objective: Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (<1%) copy number variants (CNVs) in OCD and the largest genome-wide CNV analysis in TS to date. Method: The primary analyses used a cross-disorder design for 2,699 case patients (1,613 ascertained for OCD, 1,086 ascertained for TS) and 1,789 controls. Parental data facilitated a de novo analysis in 348 OCD trios. Results: Although no global CNV burden was detected in the cross-disorder analysis or in secondary, disease-specific analyses, there was a 3.3-fold increased burden of large deletions previously associated with other neurodevelopmental disorders (p = .09). Half of these neurodevelopmental deletions were located in a single locus, 16p13.11 (5 case patient deletions: 0 control deletions, p = .08 in the current study, p = .025 compared to published controls). Three 16p13.11 deletions were confirmed de novo, providing further support for the etiological significance of this region. The overall OCD de novo rate was 1.4%, which is intermediate between published rates in controls (0.7%) and in individuals with autism or schizophrenia (2-4%). Conclusion: Several converging lines of evidence implicate 16p13.11 deletions in OCD, with weaker evidence for a role in TS. The trend toward increased overall neurodevelopmental CNV burden in TS and OCD suggests that deletions previously associated with other neurodevelopmental disorders may also contribute to these phenotypes.
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[Stewart, S. Evelyn] Univ British Columbia, Vancouver, BC V5Z 1M9, Canada.
[McGrath, Lauren M.] Amer Univ, Washington, DC 20016 USA.
[Scharf, Jeremiah M.] Brigham & Womens Hosp, Boston, MA 02115 USA.
[McGrath, Lauren M.; O'Dushlaine, Colm; Neale, Benjamin M.] Harvard Brood Inst, Boston, MA USA.
[Marshall, Christian; Barr, Cathy L.] Univ Toronto, Toronto, ON, Canada.
[Marshall, Christian; Barr, Cathy L.] Hosp Sick Children, Toronto, ON M5G 1X8, Canada.
[Schroeder, Frederick A.; Barr, Cathy L.] Univ Hlth Network, Toronto Western Res Inst, Toronto, ON, Canada.
[Kennedy, James L.] Ctr Addict & Mental Hlth, Toronto, ON, Canada.
[Davis, Lea K.; Evans, Patrick] Univ Chicago, Chicago, IL 60637 USA.
[Vallada, Homero; Miguel, Euripedes C.] Univ Sao Paulo, Med School, BR-05508 Sao Paulo, Brazil.
[Bellodi, Laura] Univ Vita Salute Son Raffaele, Milan, Italy.
[Benarroch, Fortu] Hadassah Hebrew Univ, Med Ctr, Jerusalem, Israel.
[Bienvenu, O. Joseph; Cullen, Bernadette; Grados, Marco A.; Samuels, Jack; Singer, Harvey S.; Nestadt, Gerald] Johns Hopkins Univ, Sch Med, Baltimore, MD USA.
[Black, Donald W.] Univ Iowa, Coll Med, Iowa City, IA USA.
[Bloch, Michael H.; Coric, Vladimir; Fernandez, Thomas V.; Leckman, James F.; Pakstis, Andrew J.; Pittenger, Christopher] Yale Univ, Sch Med, New Haven, CT USA.
[Bruun, Ruth D.; Budman, Cathy L.] North Shore Long Isl Jewish Med Ctr, New Hyde Pk, NY USA.
[Budman, Cathy L.] Hofstra Univ, Sch Med, Hempstead, NY USA.
[Bruun, Ruth D.] NYU, Med Ctr, New York, NY 10016 USA.
[Camarena, Beatriz] Inst Nacl Psiquiatria Ramon Fuente Muniz, Mexico City, DF, Mexico.
[Cath, Danielle C.] Univ Utrecht, Amsterdam, Netherlands.
[Cath, Danielle C.] Vrije Univ Amsterdam Med Ctr, Amsterdam, Netherlands.
[Smit, Jan H.] Vrije Univ Amsterdam, Amsterdam, Netherlands.
[Cavallini, Maria C.] Osped San Raffoe, Milan, Italy.
[Chouinard, Sylvain; Dion, Yves] Univ Montreal, Montreal, PQ H3C 3J7, Canada.
[Delorme, Richard; Leboyer, Marion] Robert Debre Univ Hosp, Paris, France.
[Delorme, Richard; Dion, Yves] French Notional Sci Fdn, Creteil, France.
[Delorme, Richard] Inst Pasteur, Paris, France.
[Leboyer, Marion] Inst Mondor Rech Biomed, Creteil, France.
[Denys, Damiaan] Netherlands Inst Neurosci, Amsterdam, Netherlands.
[Denys, Damiaan; Derks, Eske M.] Univ Amsterdam, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands.
[Sampaio, Aline S.] Univ Fed Sao Paulo, Sao Paulo, Brazil.
[Sampaio, Aline S.] Univ Fed Bahia, Salvador, BA, Brazil.
[Eapen, Valsama] Univ New S Wales, Sydney, NSW 2052, Australia.
[Falkai, Peter] Univ Munich, D-81377 Munich, Germany.
[Garrido, Helena] Hosp Nacl Ninos Dr Carlos Saenz Herrera, San Jose, Costa Rica.
[Garrido, Helena] Clin Herrera Amighetti, San Jose, Costa Rica.
[Grabe, Hans J.] Univ Med Greifswald, Greifswold, Germany.
[Greenberg, Benjamin D.] Brown Med Sch, Providence, RI USA.
[Gross-Tsur, Varda; Pollak, Yehuda] Shoare Zedek Med Ctr, Jerusalem, Israel.
[Gruenblatt, Edna] Univ Zurich, CH-8006 Zurich, Switzerland.
[Walitza, Susanne] Univ Wurzburg, Wurzburg, Germany.
[Heiman, Gary A.] Rutgers State Univ, Piscataway Township, NJ USA.
[Jankovic, Joseph] Baylor Coll Med, Houston, TX 77030 USA.
[Kurlan, Roger] Atlant Neurosci Inst, Summit, NJ USA.
[Lanzagorta, Nuria] Corracci Med Grp, Mexico City, DF, Mexico.
[Lennertz, Leonhard; Maier, Wolfgang; Wagner, Michael] Univ Bonn, Bonn, Germany.
[Hemmings, Sian M. J.] Univ Stellenbosch, ZA-7600 Stellenbosch, South Africa.
[Lowe, Thomas L.; Sheppard, Brooke] Univ Calif San Francisco, San Francisco, CA 94143 USA.
[Lyon, Gholson J.] Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA.
[McCracken, James T.] Univ Calif Irvine, Irvine, CA USA.
[Freimer, Nelson] Univ Calif Los Angeles, Sch Med, Los Angeles, CA 90024 USA.
[Freimer, Nelson] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Los Angeles, CA USA.
[McMahon, William] Univ Utah, Salt Lake City, UT USA.
[Murphy, Dennis L.; Wendfand, Jens R.] NIMH, Intramural Res Program, Bethesda, MD 20892 USA.
[Naarden, Allan L.] Med City Dallas Hosp, Dallas, TX USA.
[Pato, Michele T.; Pato, Carlos N.; Wang, Ying] Zilkho Neurogenet Inst, Los Angeles, CA USA.
[Richter, Margaret A.] Sunnybrook Hlth Sci Ctr, Toronto, ON M4N 3M5, Canada.
[Robertson, Mary M.] UCL, London, England.
[Rosenberg, David] Wayne State Univ, Detroit, MI USA.
[Rosenberg, David] Detroit Med Ctr, Detroit, MI USA.
[Rouleau, Guy A.] Montreal Neurol Inst, Montreal, PQ, Canada.
[Ruhrmann, Stephan] Univ Cologne, Cologne, Germany.
[Smit, Jan H.] Vrije Univ Amsterdam Med Ctr, Amsterdam, Netherlands.
[Stein, Dan J.] Univ Cape Town, Rondebosch, South Africa.
[Veenstra-VanderWeele, Jeremy] Vanderbilt Univ, Nashville, TN 37235 USA.
[Oostra, Ben A.] Erasmus MC, Rotterdam, Netherlands.
[Heutink, Peter] German Ctr Neurodegenerat Dis, Bonn, Germany.
[Heutink, Peter] VU Med Ctr Amsterdam, Amsterdam, Netherlands.
[Posthuma, Danielle] VU Amsterdam & Erasmus Univ, Med Ctr, Rotterdam, Netherlands.
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RP Scharf, JM (reprint author), Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, 185 Cambridge St, Boston, MA 02114 USA.
EM ischarf@partners.org
RI Scherer, Stephen /B-3785-2013; Stewart, Evelyn/K-6961-2014; Vallada,
Homero/D-1333-2014; Nurmi, Erika/P-4627-2014; Stein, Dan/A-1752-2008
OI Scherer, Stephen /0000-0002-8326-1999; Vallada,
Homero/0000-0001-5123-8295; Nurmi, Erika/0000-0003-4893-8957; Stein,
Dan/0000-0001-7218-7810
FU David Judah Fund; Tourette Syndrome Association; International OCD
Foundation; National Institutes of Health [TSA International Consortium
for Genetics] [U01NS40024, R01NS16648, R01MH079489, MH073250,
K23MH085057, T32MH16259, NS037484, P30NS062691, K20MH01065, R01MH58376,
R01MH092293]; American Recovery and Re-investment Act (ARRA) awards
[NS40024-07S1, NS16648-29S1]; New Jersey Center for Tourette Syndrome
and Associated Disorders; German Research Foundation (DFG) [Fa 241/6-1];
Ontario Mental Health Foundation; NIH Genes, Environment and Health
Initiative (GEI) [U01 HG004422]; Gene Environment Association Studies
(GENEVA) under GEI; NIH GEI [U01HG004438]; National Institute on Alcohol
Abuse and Alcoholism; National Institute on Drug Abuse; NIH contract
"High throughput genotyping for studying the genetic contributions to
human disease" [HHSN268200782096C]; [T32MH018268]
FX This work was supported by grants from the David Judah Fund, the
Tourette Syndrome Association, the International OCD Foundation, and
National Institutes of Health (U01NS40024: [D.L.P./J.M.S/TSA
International Consortium for Genetics]; R01NS16648, R01MH079489, and
MH073250 [D.L.P.]; K23MH085057 [J.M.S.]; T32MH16259 [L.M.M.]; NS037484
and P30NS062691 [N.B.F.]; K20MH01065 and R01MH58376 (G.L.H.);
R01MH092293 [G.A.H./R.A.K./J.A.T.]). Support also came from American
Recovery and Re-investment Act (ARRA) awards NS40024-07S1 and
NS16648-29S1 (D.L.P.). This work was also supported by grants from the
New Jersey Center for Tourette Syndrome and Associated Disorders, the
German Research Foundation (Fa 241/6-1; DFG), the Ontario Mental Health
Foundation (M.A.R. and J.L.K.), and T32MH018268 (J.F.L.). Funding
support for the Study of Addiction: Genetics and Environment (SAGE) was
provided through the NIH Genes, Environment and Health Initiative (GEI;
U01 HG004422). SAGE is 1 of the genome-wide association studies funded
as part of the Gene Environment Association Studies (GENEVA) under GEI.
Assistance with phenotype harmonization and genotype cleaning, as well
as with general study coordination, was provided by the GENEVA
Coordinating Center (U01 HG004446). Assistance with data cleaning was
provided by the National Center for Biotechnology Information. Support
for collection of datasets and samples was provided by the Collaborative
Study on the Genetics of Alcoholism (COGA; U10M008401), the
Collaborative Genetic Study of Nicotine Dependence (COGEND; P01
CA089392), and the Family Study of Cocaine Dependence (FSCD; R01
DA013423). Funding support for genotyping, which was performed at the
Johns Hopkins University Center for Inherited Disease Research, was
provided by the NIH GEI (U01HG004438), the National Institute on Alcohol
Abuse and Alcoholism, the National Institute on Drug Abuse, and the NIH
contract "High throughput genotyping for studying the genetic
contributions to human disease" (HHSN268200782096C) The datasets used
for the analyses described in this manuscript were obtained from dbGaP
at
http://www.ncbi.nlm.nlh.gov/projects/gap/cgibin/study.cgi?study_id=phs00
0092.vl.pl through dbGaP accession number phs000092.vl p None of the
funding agencies for this protect had any influence on the design or
conduct of the study; the management, analysis, or interpretation of the
data; or the preparation, review, or approval of the manuscript.
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NR 40
TC 5
Z9 5
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 AUG
PY 2014
VL 53
IS 8
BP 910
EP 919
DI 10.1016/j.jaac.2014.04.022
PG 10
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AM5WY
UT WOS:000339932900011
PM 25062598
ER
PT J
AU Volkmar, F
Siegel, M
Woodbury-Smith, M
King, B
McCracken, J
State, M
AF Volkmar, Fred
Siegel, Matthew
Woodbury-Smith, Marc
King, Bryan
McCracken, James
State, Matthew
TI Practice Parameter for the Assessment and Treatment of Children and
Adolescents With Autism Spectrum Disorder (vol 53, pg 237, 2014)
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Correction
CR Volkmar F, 2014, J AM ACAD CHILD PSY, V53, P237, DOI 10.1016/j.jaac.2013.10.013
NR 1
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 AUG
PY 2014
VL 53
IS 8
BP 931
EP 931
DI 10.1016/j.jaac.2014.06.001
PG 1
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AM5WY
UT WOS:000339932900019
ER
PT J
AU Grove, R
Baillie, A
Allison, C
Baron-Cohen, S
Hoekstra, RA
AF Grove, Rachel
Baillie, Andrew
Allison, Carrie
Baron-Cohen, Simon
Hoekstra, Rosa A.
TI The latent structure of cognitive and emotional empathy in individuals
with autism, first-degree relatives and typical individuals
SO MOLECULAR AUTISM
LA English
DT Article
DE Empathy; autism; broader autism phenotype; factor analysis
ID SPECTRUM QUOTIENT AQ; HIGH-FUNCTIONING AUTISM; MALE BRAIN THEORY;
ASPERGER-SYNDROME; PSYCHOMETRIC ANALYSIS; FAMILY-HISTORY; NORMAL ADULTS;
FIT INDEXES; VALIDITY; MIND
AB Background: Empathy is a vital component for social understanding involving the ability to recognise emotion (cognitive empathy) and provide an appropriate affective response (emotional empathy). Autism spectrum conditions have been described as disorders of empathy. First-degree relatives may show some mild traits of the autism spectrum, the broader autism phenotype (BAP). Whether both cognitive and emotional empathy, rather than cognitive empathy alone, are impaired in autism and the BAP is still under debate. Moreover the association between various aspects of empathy is unclear. This study aims to examine the relationship between different components of empathy across individuals with varying levels of genetic vulnerability to autism.
Methods: Factor analyses utilising questionnaire and performance-based task data were implemented among individuals with autism, parents of a child with autism and controls. The relationship between performance-based tasks and behavioural measures of empathy was also explored.
Results: A four-factor model including cognitive empathy, emotional empathy, social skills and a performance-based factor fitted the data best irrespective of genetic vulnerability. Individuals with autism displayed impairment on all four factors, with parents showing intermediate difficulties. Performance-based measures of empathy were related in almost equal magnitude to cognitive and emotional empathy latent factors and the social skills factor.
Conclusions: This study suggests individuals with autism have difficulties with multiple facets of empathy, while parents show intermediate impairments, providing evidence for a quantitative BAP. Impaired scores on performance-based measures of empathy, often thought to be pure measures of cognitive empathy, were also related to much wider empathy difficulties than impairments in cognitive empathy alone.
C1 [Grove, Rachel; Baillie, Andrew] Macquarie Univ, Dept Psychol, Ctr Emot Hlth, Sydney, NSW 2109, Australia.
[Allison, Carrie; Baron-Cohen, Simon; Hoekstra, Rosa A.] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England.
[Baron-Cohen, Simon] Cambridgeshire & Peterborough NHS Fdn Trust, CLASS Clin, Cambridge, England.
[Hoekstra, Rosa A.] Open Univ, Fac Sci, Milton Keynes MK7 6AA, Bucks, England.
RP Grove, R (reprint author), Macquarie Univ, Dept Psychol, Ctr Emot Hlth, Sydney, NSW 2109, Australia.
EM rachel.grove@mq.edu.au
FU Medical Research Council (UK); National Health and Medical Research
Council (Australia) [1017041]
FX Acknowledgements We thank the individuals who participated in the study.
This work was conducted in association with the NIHR CLAHRC for
Cambridgeshire and Peterborough NHS Foundation Trust. We acknowledge
support from the Medical Research Council (UK) (program grant to SB-C).
RG was supported by a National Health and Medical Research Council
(Australia) Postgraduate Scholarship (#1017041).
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NR 60
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 AUG 1
PY 2014
VL 5
AR 42
DI 10.1186/2040-2392-5-42
PG 10
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AM6KY
UT WOS:000339975000001
PM 25101164
ER
PT J
AU Robinson, EB
Howrigan, D
Yang, J
Ripke, S
Anttila, V
Duncan, LE
Jostins, L
Barrett, JC
Medland, SE
MacArthur, DG
Breen, G
O'Donovan, MC
Wray, NR
Devlin, B
Daly, MJ
Visscher, PM
Sullivan, PF
Neale, BM
AF Robinson, E. B.
Howrigan, D.
Yang, J.
Ripke, S.
Anttila, V.
Duncan, L. E.
Jostins, L.
Barrett, J. C.
Medland, S. E.
MacArthur, D. G.
Breen, G.
O'Donovan, M. C.
Wray, N. R.
Devlin, B.
Daly, M. J.
Visscher, P. M.
Sullivan, P. F.
Neale, B. M.
TI Response to 'Predicting the diagnosis of autism spectrum disorder using
gene pathway analysis'
SO MOLECULAR PSYCHIATRY
LA English
DT Letter
ID ASSOCIATION; VARIANTS
C1 [Robinson, E. B.; Howrigan, D.; Ripke, S.; Anttila, V.; MacArthur, D. G.; Daly, M. J.; Neale, B. M.] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA.
[Robinson, E. B.; Howrigan, D.; Ripke, S.; Anttila, V.; MacArthur, D. G.; Daly, M. J.; Neale, B. M.] Harvard Univ, Sch Med, Dept Med, Boston, MA USA.
[Robinson, E. B.; Howrigan, D.; Ripke, S.; Anttila, V.; MacArthur, D. G.; Daly, M. J.; Neale, B. M.] Broad Inst Harvard & MIT, Med & Populat Genet Program, Cambridge, MA USA.
[Yang, J.; Wray, N. R.; Visscher, P. M.] Univ Queensland, Queensland Brain Inst, Brisbane, Qld, Australia.
[Ripke, S.; Anttila, V.; Daly, M. J.; Neale, B. M.] Broad Inst Harvard & MIT, Stanley Ctr Psychiat Res, Cambridge, MA USA.
[Duncan, L. E.] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA.
[Duncan, L. E.] Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
[Duncan, L. E.] Harvard Univ, Sch Med, Dept Psychiat, Boston, MA 02115 USA.
[Jostins, L.; Barrett, J. C.] Wellcome Trust Sanger Inst, Cambridge, England.
[Medland, S. E.] Queensland Inst Med Res, Brisbane, Qld 4006, Australia.
[Breen, G.] Kings Coll London, Inst Psychiat, Social Genet & Dev Psychiat Ctr, London, England.
[O'Donovan, M. C.] Cardiff Univ, Sch Med, MRC Ctr Neuropsychiat Genet & Genom, Cardiff CF10 3AX, S Glam, Wales.
[Devlin, B.] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA USA.
[Sullivan, P. F.] Univ N Carolina, Sch Med, Dept Genet, Chapel Hill, NC USA.
RP Neale, BM (reprint author), Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA.
EM bneale@broadinstitute.org
RI Yang, Jian/A-5852-2010; Breen, Gerome/A-5540-2010; Medland,
Sarah/C-7630-2013; Wray, Naomi/C-8639-2015
OI Yang, Jian/0000-0003-2001-2474; Breen, Gerome/0000-0003-2053-1792;
Medland, Sarah/0000-0003-1382-380X; Wray, Naomi/0000-0001-7421-3357
CR Anney R, 2012, HUM MOL GENET, V21, P4781, DOI 10.1093/hmg/dds301
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Skafidas E, 2014, MOL PSYCHIATR, V19, P504, DOI 10.1038/mp.2012.126
Wray NR, 2010, PLOS GENET, V6, DOI 10.1371/journal.pgen.1000864
NR 10
TC 2
Z9 3
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD AUG
PY 2014
VL 19
IS 8
BP 859
EP 861
DI 10.1038/mp.2013.125
PG 3
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AM7IR
UT WOS:000340040200005
PM 24145379
ER
PT J
AU Ladd-Acosta, C
Hansen, KD
Briem, E
Fallin, MD
Kaufmann, WE
Feinberg, AP
AF Ladd-Acosta, C.
Hansen, K. D.
Briem, E.
Fallin, M. D.
Kaufmann, W. E.
Feinberg, A. P.
TI Common DNA methylation alterations in multiple brain regions in autism
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE autism; brain; DNA methylation; epigenome; 450 k
ID PAROXYSMAL KINESIGENIC DYSKINESIA; FAMILIAL INFANTILE CONVULSIONS; COPY
NUMBER VARIATION; EMBRYONIC STEM-CELLS; CPG ISLAND SHORES; SPECTRUM
DISORDERS; RHEUMATOID-ARTHRITIS; FUNCTIONAL VARIANTS; WIDE ASSOCIATION;
MUTATIONS
AB Autism spectrum disorders (ASD) are increasingly common neurodevelopmental disorders defined clinically by a triad of features including impairment in social interaction, impairment in communication in social situations and restricted and repetitive patterns of behavior and interests, with considerable phenotypic heterogeneity among individuals. Although heritability estimates for ASD are high, conventional genetic-based efforts to identify genes involved in ASD have yielded only few reproducible candidate genes that account for only a small proportion of ASDs. There is mounting evidence to suggest environmental and epigenetic factors play a stronger role in the etiology of ASD than previously thought. To begin to understand the contribution of epigenetics to ASD, we have examined DNA methylation (DNAm) in a pilot study of postmortem brain tissue from 19 autism cases and 21 unrelated controls, among three brain regions including dorsolateral prefrontal cortex, temporal cortex and cerebellum. We measured over 485 000 CpG loci across a diverse set of functionally relevant genomic regions using the Infinium HumanMethylation450 BeadChip and identified four genome-wide significant differentially methylated regions (DMRs) using a bump hunting approach and a permutation-based multiple testing correction method. We replicated 3/4 DMRs identified in our genome-wide screen in a different set of samples and across different brain regions. The DMRs identified in this study represent suggestive evidence for commonly altered methylation sites in ASD and provide several promising new candidate genes.
C1 [Ladd-Acosta, C.; Fallin, M. D.] Johns Hopkins Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA.
[Ladd-Acosta, C.; Hansen, K. D.; Briem, E.; Fallin, M. D.; Feinberg, A. P.] Johns Hopkins Sch Med, Inst Basic Biomed Sci, Ctr Epigenet, Baltimore, MD 21205 USA.
[Hansen, K. D.] Johns Hopkins Sch Publ Hlth, Dept Biostat, Baltimore, MD USA.
[Hansen, K. D.] Johns Hopkins Sch Publ Hlth, Inst Med Genet, Baltimore, MD USA.
[Briem, E.; Feinberg, A. P.] Johns Hopkins Univ, Sch Med, Dept Med, Baltimore, MD 21205 USA.
[Kaufmann, W. E.] Kennedy Krieger Inst, Baltimore, MD USA.
RP Feinberg, AP (reprint author), Johns Hopkins Sch Med, Inst Basic Biomed Sci, Ctr Epigenet, 855N Wolfe St,Rangos 570, Baltimore, MD 21205 USA.
EM afeinberg@jhu.edu
FU US National Institutes of Health Centers of Excellence in Genomic
Science [5P50HG003233]; Department of Defense (CDMRP) [AR080125]
FX We thank Daniel Geschwind and Neelroop Parikshak for sharing the PFC and
TC samples, obtained from the Autism Tissue Program (ATP) of Autism
Speaks, for these analyses. In addition, we would also like to thank the
NICHD Brain and Tissue Bank for Neurodevelopmental Disorders at The
University of Maryland for providing brain samples from the CBL brain
region. This work was supported by the US National Institutes of Health
Centers of Excellence in Genomic Science, 5P50HG003233 to APF and
Department of Defense (CDMRP) AR080125 to APF and WEK.
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NR 82
TC 19
Z9 21
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD AUG
PY 2014
VL 19
IS 8
BP 862
EP 871
DI 10.1038/mp.2013.114
PG 10
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AM7IR
UT WOS:000340040200006
PM 23999529
ER
PT J
AU Kenny, EM
Cormican, P
Furlong, S
Kenny, EHG
Fahey, C
Kelleher, E
Ennis, S
Tropea, D
Anney, R
Corvin, P
Donohoe, G
Gallagher, L
Gill, M
Morris, DW
AF Kenny, E. M.
Cormican, P.
Furlong, S.
Kenny, E. Heron G.
Fahey, C.
Kelleher, E.
Ennis, S.
Tropea, D.
Anney, R.
Corvin, P.
Donohoe, G.
Gallagher, L.
Gill, M.
Morris, D. W.
TI Excess of rare novel loss-of-function variants in synaptic genes in
schizophrenia and autism spectrum disorders
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE autism; loss-of-function; mutation; schizophrenia; sequencing; synapse
ID DE-NOVO MUTATIONS; COPY NUMBER VARIATION; PERVASIVE DEVELOPMENTAL
DISORDERS; GENOME-WIDE ASSOCIATION; LONG-TERM POTENTIATION; RECURRENT
REARRANGEMENTS; BIPOLAR DISORDER; TYROSINE KINASE; NMDA RECEPTORS;
RISK-FACTOR
AB Schizophrenia (SZ) and autism spectrum disorders (ASDs) are complex neurodevelopmental disorders that may share an underlying pathology suggested by shared genetic risk variants. We sequenced the exonic regions of 215 genes in 147 ASD cases, 273 SZ cases and 287 controls, to identify rare risk mutations. Genes were primarily selected for their function in the synapse and were categorized as: (1) Neurexin and Neuroligin Interacting Proteins, (2) Post-synaptic Glutamate Receptor Complexes, (3) Neural Cell Adhesion Molecules, (4) DISC1 and Interactors and (5) Functional and Positional Candidates. Thirty-one novel loss-of-function (LoF) variants that are predicted to severely disrupt protein-coding sequence were detected among 2 861 rare variants. We found an excess of LoF variants in the combined cases compared with controls (P = 0.02). This effect was stronger when analysis was limited to singleton LoF variants (P = 0.0007) and the excess was present in both SZ (P = 0.002) and ASD (P = 0.001). As an individual gene category, Neurexin and Neuroligin Interacting Proteins carried an excess of LoF variants in cases compared with controls (P = 0.05). A de novo nonsense variant in GRIN2B was identified in an ASD case adding to the growing evidence that this is an important risk gene for the disorder. These data support synapse formation and maintenance as key molecular mechanisms for SZ and ASD.
C1 [Kenny, E. M.; Cormican, P.; Furlong, S.; Kenny, E. Heron G.; Fahey, C.; Kelleher, E.; Tropea, D.; Anney, R.; Corvin, P.; Donohoe, G.; Gallagher, L.; Gill, M.; Morris, D. W.] Univ Dublin Trinity Coll, Inst Mol Med, Dept Psychiat, Neuropsychiat Genet Res Grp, Dublin 2, Ireland.
[Ennis, S.] Univ Coll Dublin, Sch Med & Med Sci, Dublin 2, Ireland.
RP Morris, DW (reprint author), St James Hosp, Inst Mol Med, Dept Psychiat, Neuropsychiat Genet Res Grp, Room 0-80, Dublin 8, Ireland.
EM derek.morris@tcd.ie
FU Health Research Board (HRB Ireland) [HRA/2009/45]; Science Foundation
Ireland (SFI) [08/IN.1/B1916]; SFI [07/RFP/GEN/F327/EC07]; HRB 4-Year
PhD Programme in Molecular Medicine at TCD; Trinity Centre for High
Performance Computing; Health Research Board (Ireland)
FX We sincerely thank all patients who contributed to this study and all
staff who facilitated their involvement. Funding for this study was
provided by the Health Research Board (HRB Ireland; HRA/2009/45) and
Science Foundation Ireland (SFI; 08/IN.1/B1916). Next-generation
sequencing was performed in TrinSeq (Trinity Genome Sequencing
Laboratory; http://www.medicine.tcd.ie/sequencing), a core facility
funded by SFI under Grant No. [07/RFP/GEN/F327/EC07] to Dr Morris. Ms
Furlong's PhD studentship is funded by the HRB 4-Year PhD Programme in
Molecular Medicine at TCD. We acknowledge use of the Trinity Biobank
control sample and support from the Trinity Centre for High Performance
Computing. This work was supported by grant funding from the Health
Research Board (Ireland).
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NR 86
TC 14
Z9 14
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD AUG
PY 2014
VL 19
IS 8
BP 872
EP 879
DI 10.1038/mp.2013.127
PG 8
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AM7IR
UT WOS:000340040200007
PM 24126926
ER
PT J
AU Gershon, ES
Grennan, K
Busnello, J
Badner, JA
Ovsiew, F
Memon, S
Alliey-Rodriguez, N
Cooper, J
Romanos, B
Liu, C
AF Gershon, E. S.
Grennan, K.
Busnello, J.
Badner, J. A.
Ovsiew, F.
Memon, S.
Alliey-Rodriguez, N.
Cooper, J.
Romanos, B.
Liu, C.
TI A rare mutation of CACNA1C in a patient with bipolar disorder, and
decreased gene expression associated with a bipolar-associated common
SNP of CACNA1C in brain
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE bipolar disorder; Timothy syndrome; calcium channel blockers; CACNA1C;
long QT syndrome
ID TIMOTHY-SYNDROME MUTATION; CALCIUM-CHANNEL BLOCKERS; NEUROPATHOLOGY
CONSORTIUM; MAJOR DEPRESSION; HEART-FAILURE; MOUSE MODEL; SCHIZOPHRENIA;
INACTIVATION; CEREBELLUM; POLYMORPHISMS
AB Timothy Syndrome (TS) is caused by very rare exonic mutations of the CACNA1C gene that produce delayed inactivation of Cav1.2 voltage-gated calcium channels during cellular action potentials, with greatly increased influx of calcium into the activated cells. The major clinical feature of this syndrome is a long QT interval that results in cardiac arrhythmias. However, TS also includes cognitive impairment, autism and major developmental delays in many of the patients. We observed the appearance of bipolar disorder (BD) in a patient with a previously reported case of TS, who is one of the very few patients to survive childhood. This is most interesting because the common single-nucleotide polymorphism (SNP) most highly associated with BD is rs1006737, which we show here is a cis-expression quantitative trait locus for CACNA1C in human cerebellum, and the risk allele (A) is associated with decreased expression. To combine the CACNA1C perturbations in the presence of BD in this patient and in patients with the common CACNA1C SNP risk allele, we would propose that either increase or decrease in calcium influx in excitable cells can be associated with BD. In treatment of BD with calcium channel blocking drugs, we would predict better response in patients without the risk allele, because they have increased CACNA1C expression.
C1 [Gershon, E. S.; Grennan, K.; Busnello, J.; Badner, J. A.; Ovsiew, F.; Alliey-Rodriguez, N.; Cooper, J.] Univ Chicago, Dept Psychiat & Behav Neurosci, Chicago, IL 60637 USA.
[Memon, S.] Northwestern Univ, Dept Psychiat & Behav Sci, Chicago, IL 60611 USA.
[Romanos, B.; Liu, C.] Univ Illinois, Dept Psychiat, Chicago, IL 60607 USA.
[Liu, C.] Cent S Univ, State Key Lab Med Genet, Changsha, Hunan, Peoples R China.
RP Gershon, ES (reprint author), Univ Chicago, Dept Psychiat, 5841 S Maryland Ave MC3077, Chicago, IL 60637 USA.
EM egershon@yoda.bsd.uchicago.edu; liucsxx@gmail.com
FU NIMH [1R01MH094483-01]; NIH [1R01MH080425]; Geraldi Norton Memorial
Foundation; Eklund family
FX This work was supported by NIMH 1R01MH094483-01 (Dr Gershon) and NIH
1R01MH080425 (Dr Liu), Geraldi Norton Memorial Foundation, Eklund
family.
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NR 43
TC 2
Z9 2
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD AUG
PY 2014
VL 19
IS 8
BP 890
EP 894
DI 10.1038/mp.2013.107
PG 5
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AM7IR
UT WOS:000340040200009
PM 23979604
ER
PT J
AU Gauglerl, T
Klei, L
Sanders, SJ
Bodea, CA
Goldberg, AP
Lee, AB
Mahajan, ML
Manaa, D
Pawitan, YD
Reichert, J
Ripke, S
Sandin, S
Sklar, P
Svantesson, O
Reichenberg, A
Hultman, CM
Devlin, B
Roeder, K
Buxbaum, JD
AF Gauglerl, Trent
Klei, Lambertus
Sanders, Stephan J.
Bodea, Corneliu A.
Goldberg, Arthur P.
Lee, Ann B.
Mahajan, Milind
Manaa, Dina
Pawitan, Yudi
Reichert, Jennifer
Ripke, Stephan
Sandin, Sven
Sklar, Pamela
Svantesson, Oscar
Reichenberg, Abraham
Hultman, Christina M.
Devlin, Bernie
Roeder, Kathryn
Buxbaum, Joseph D.
TI Most genetic risk for autism resides with common variation
SO NATURE GENETICS
LA English
DT Article
ID DE-NOVO MUTATIONS; SPECTRUM DISORDERS; HERITABILITY; VARIANTS; REVEALS;
LOCI
AB A key component of genetic architecture is the allelic spectrum influencing trait variability. For autism spectrum disorder (herein termed autism), the nature of the allelic spectrum is uncertain. Individual risk-associated genes have been identified from rare variation, especially de novo mutations(1-8). From this evidence, one might conclude that rare variation dominates the allelic spectrum in autism, yet recent studies show that common variation, individually of small effect, has substantial impact en masse(9,10). At issue is how much of an impact relative to rare variation this common variation has. Using a unique epidemiological sample from Sweden, new methods that distinguish total narrow-sense heritability from that due to common variation and synthesis of results from other studies, we reach several conclusions about autism's genetic architecture: its narrow-sense heritability is similar to 52.4%, with most due to common variation, and rare de novo mutations contribute substantially to individual liability, yet their contribution to variance in liability, 2.6%, is modest compared to that for heritable variation.
C1 [Gauglerl, Trent; Bodea, Corneliu A.; Lee, Ann B.; Roeder, Kathryn] Carnegie Mellon Univ, Dept Stat, Pittsburgh, PA 15213 USA.
[Klei, Lambertus; Devlin, Bernie] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA USA.
[Sanders, Stephan J.] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA USA.
[Sanders, Stephan J.] Yale Univ, Sch Med, Dept Genet, New Haven, CT USA.
[Goldberg, Arthur P.; Reichert, Jennifer; Reichenberg, Abraham; Buxbaum, Joseph D.] Seaver Autism Ctr Res & Treatment, Icahn Sch Med Mt Sinai, New York, NY USA.
[Goldberg, Arthur P.; Reichert, Jennifer; Sklar, Pamela; Reichenberg, Abraham; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY USA.
[Goldberg, Arthur P.; Sklar, Pamela] Icahn Sch Med Mt Sinai, Icahn Inst Genom & Multiscale Biol, New York, NY USA.
[Mahajan, Milind; Manaa, Dina; Sklar, Pamela; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY USA.
[Pawitan, Yudi; Sandin, Sven; Svantesson, Oscar; Hultman, Christina M.] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
[Ripke, Stephan] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA USA.
[Sklar, Pamela; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY USA.
[Sklar, Pamela] Icahn Sch Med Mt Sinai, Div Psychiat Gen, New York, NY USA.
[Reichenberg, Abraham] Icahn Sch Med Mt Sinai, Dept Prevent Med, New York, NY USA.
[Roeder, Kathryn] Carnegie Mellon Univ, Ray & Stephanie Lane Ctr Computat Biol, Pittsburgh, PA USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY USA.
RP Roeder, K (reprint author), Carnegie Mellon Univ, Dept Stat, Pittsburgh, PA 15213 USA.
EM roeder@stat.cmu.edu; joseph.buxbaum@mssm.edu
FU National Institute of Mental Health (NIMH) [MH057881, MH097849]; NIMH
[MH095034, MH077139]; US NIH [HD055751, HD055782, HD055784, HD35465,
MH52708, MH55284, MH57881, MH061009, MH06359, MH066673, MH080647,
MH081754, MH66766, NS026630, NSO42165, NSO49261]; Canadian Institutes
for Health Research (CIHR); Assistance Publique-Hopitaux de Paris,
France; Autism Speaks, UK; Canada Foundation for Innovation/Ontario
Innovation Trust; Deutsche Forschungsgemeinschaft, Germany [Po
255/17-4]; European Community's Sixth Framework Programme AUTISM MOLGEN;
Fundacao Calouste Gulbenkian, Portugal; Fondation de France; Fondation
FondaMental, France; Fondation Orange, France; Fondation pour la
Recherche Medicale, France; Fundacao pars a Ciencia e Tecnologia,
Portugal; Hospital for Sick Children Foundation; University of Toronto,
Canada; INSERM, France; Institut Pasteur, France; Italian Ministry of
Health [181]; John P. Hussman Foundation, USA; McLaughlin Centre,
Canada; Netherlands Organization for Scientific Research [Rubicon
825.06.031]; Royal Netherlands Academy of Arts and Sciences
[TMF/DA/5801]; Ontario Ministry of Research and Innovation, Canada;
Seaver Foundation, USA; Swedish Science Council; Centre for Applied
Genomics, Canada; Utah Autism Foundation, USA; Wellcome Trust, UK
[075491/Z/04]; Division of Aging Biology and the Division of Geriatrics
and Clinical Gerontology, National Institute on Aging
FX This study was supported by National Institute of Mental Health (NIMH)
grants MH057881 and MH097849 and also in part through the computational
resources and staff expertise provided by the Scientific Computing
Facility at the Icahn School of Medicine at Mount Sinai. We thank the
Mount Sinai Genomics Core Facility for carrying out Illumina bead array
genotyping. We thank D. Cutler, M. Daly and S. Purcell for comments on
the manuscript and M. Daly and P. Sullivan for facilitating access to
control samples, collected and genotyped by M. Daly, C.M.H., P.S. and P.
Sullivan with support from NIMH grants MH095034 and MH077139. We also
thank the nurses, A.-K. Sundberg and A.-B. Holmgren, for their hard work
in collecting the samples. AGP: We used data from the Autism Genome
Project (AGP) Consortium Whole-Genome Association and Copy Number
Variation Study of over 2,600 parent-offspring trios (database of
Genotypes and Phenotypes (dbGaP) study phs000267.v4.p2). Funding for AGP
was provided from the US NIH (HD055751, HD055782, HD055784, HD35465,
MH52708, MH55284, MH57881, MH061009, MH06359, MH066673, MH080647,
MH081754, MH66766, NS026630, NSO42165 and NSO49261); the Canadian
Institutes for Health Research (CIHR); Assistance Publique-Hopitaux de
Paris, France; Autism Speaks, UK; the Canada Foundation for
Innovation/Ontario Innovation Trust; grant Po 255/17-4 from Deutsche
Forschungsgemeinschaft, Germany; the European Community's Sixth
Framework Programme AUTISM MOLGEN; Fundacao Calouste Gulbenkian,
Portugal; Fondation de France; Fondation FondaMental, France; Fondation
Orange, France; Fondation pour la Recherche Medicale, France; Fundacao
pars a Ciencia e Tecnologia, Portugal; The Hospital for Sick Children
Foundation and the University of Toronto, Canada; INSERM, France;
Institut Pasteur, France; Convention 181 of 19.10.2001 from the Italian
Ministry of Health; the John P. Hussman Foundation, USA; the McLaughlin
Centre, Canada; Rubicon 825.06.031 from the Netherlands Organization for
Scientific Research; TMF/DA/5801 from the Royal Netherlands Academy of
Arts and Sciences; the Ontario Ministry of Research and Innovation,
Canada; the Seaver Foundation, USA; the Swedish Science Council; the
Centre for Applied Genomics, Canada; the Utah Autism Foundation, USA;
and Core award 075491/Z/04 from the Wellcome Trust, UK. Genotype and
phenotype data were obtained from dbGaP, as provided by AGP study
investigators. HealthABC: These controls were obtained from dbGaP.
Funding support for the CIDR Visceral Adiposity Study (dbGaP study
phs000169.v1.p1) was provided through the Division of Aging Biology and
the Division of Geriatrics and Clinical Gerontology, National Institute
on Aging. The CIDR Visceral Adiposity Study includes a GWAS funded as
part of the Division of Aging Biology and the Division of Geriatrics and
Clinical Gerontology, National Institute on Aging. Assistance with
phenotype harmonization and genotype cleaning, as well as with general
study coordination, was provided by Health ABC study investigators. This
manuscript reflects the views of the authors and does not necessarily
reflect the opinions or views of the US NIH.
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NR 33
TC 29
Z9 30
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 AUG
PY 2014
VL 46
IS 8
BP 881
EP 885
DI 10.1038/ng.3039
PG 5
WC Genetics & Heredity
SC Genetics & Heredity
GA AM2TT
UT WOS:000339704400018
PM 25038753
ER
PT J
AU Rimmer, A
Phan, H
Mathieson, I
Iqbal, Z
Twigg, SRF
Wilkie, AOM
McVean, G
Lunter, G
AF Rimmer, Andy
Phan, Hang
Mathieson, Iain
Iqbal, Zamin
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Wilkie, Andrew O. M.
McVean, Gil
Lunter, Gerton
CA WGS500 Consortium
TI Integrating mapping-, assembly- and haplotype-based approaches for
calling variants in clinical sequencing applications
SO NATURE GENETICS
LA English
DT Article
ID DE-NOVO MUTATIONS; HIGH-RESOLUTION HLA; POLYMORPHIC GENOMES;
CIONA-SAVIGNYI; GENERATION; EXOME; FRAMEWORK; ALIGNMENT; DISEASE; AUTISM
AB High-throughput DNA sequencing technology has transformed genetic research and is starting to make an impact on clinical practice. However, analyzing high-throughput sequencing data remains challenging, particularly in clinical settings where accuracy and turnaround times are critical. We present a new approach to this problem, implemented in a software package called Platypus. Platypus achieves high sensitivity and specificity for SNPs, indels and complex polymorphisms by using local de novo assembly to generate candidate variants, followed by local realignment and probabilistic haplotype estimation. It is an order of magnitude faster than existing tools and generates calls from raw aligned read data without preprocessing. We demonstrate the performance of Platypus in clinically relevant experimental designs by comparing with SAMtools and GATK on whole-genome and exome-capture data, by identifying de novo variation in 15 parent-offspring trios with high sensitivity and specificity, and by estimating human leukocyte antigen genotypes directly from variant calls.
C1 [Rimmer, Andy; Phan, Hang; Mathieson, Iain; Iqbal, Zamin; McVean, Gil; Lunter, Gerton] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England.
[Twigg, Stephen R. F.; Wilkie, Andrew O. M.] Univ Oxford, John Radcliffe Hosp, Weatherall Inst Mol Med, Oxford OX3 9DU, England.
[McVean, Gil] Univ Oxford, Dept Stat, Oxford OX1 3TG, England.
RP Lunter, G (reprint author), Univ Oxford, Wellcome Trust Ctr Human Genet, S Parks Rd, Oxford, England.
EM gerton.lunter@well.ox.ac.uk
FU Biotechnology and Biological Sciences Research Council (BBSRC)
[BB/I02593X/1]; Wellcome Trust [102731/Z/13/Z, 089250/Z/09/Z,
090532/Z/09/Z]; National Institute for Health Research (NIHR) Oxford
Biomedical Research Centre Programme
FX This study was funded by Biotechnology and Biological Sciences Research
Council (BBSRC) grant BB/I02593X/1 (G.L., G.M., A.R. and H.P.), by
Wellcome Trust grants 102731/Z/13/Z (A.O.M.W. and S.R.F.T.),
089250/Z/09/Z (I.M.) and 090532/Z/09/Z (G.M., G.L. and A.R.), and by the
National Institute for Health Research (NIHR) Oxford Biomedical Research
Centre Programme. The views expressed are those of the authors and not
necessarily those of the National Health Service (NHS), NIHR or the UK
Department of Health.
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NR 41
TC 7
Z9 7
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 AUG
PY 2014
VL 46
IS 8
BP 912
EP 918
DI 10.1038/ng.3036
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AM2TT
UT WOS:000339704400024
PM 25017105
ER
PT J
AU Escobedo, L
Ibarra, C
Hernandez, J
Alvelais, M
Tentori, M
AF Escobedo, Lizbeth
Ibarra, Catalina
Hernandez, Jehu
Alvelais, Mariana
Tentori, Monica
TI Smart objects to support the discrimination training of children with
autism
SO PERSONAL AND UBIQUITOUS COMPUTING
LA English
DT Article
DE Tangible computing; Smart objects; Assistive technology; Autism;
Child-computer interaction; Discrimination training
ID INTERVENTIONS
AB Teachers spend considerable amount of time keeping students with autism "on task" giving away prompts and rewards and maintaining a detailed record of students' progress during the object discrimination training. We hypothesize that tangible computing, in particular smart objects, could help teachers cope with the problems faced during the object discrimination training of students with autism. In this paper, we describe design principles for smart objects to support the object discrimination training and present several example prototypes. First, we present the design and implementation of "Things that think" (T3), a smart device that converts traditional objects into smart objects that promote interactivity with a playful and engaging interaction, and are capable of the automatic recording of students' progress. Then, we present four T3 smart objects assembled in a board. The results of a 7-week deployment study of the use of such smart objects in three classrooms of students with autism (n = 25, 7 teachers and 18 students with autism) demonstrate T3 smart objects reduce the workload of teachers, ease the record-keeping and increase its reliability, and reduce students' behavioral problems while improving their cognitive efficacy. We close discussing directions for future work.
C1 [Escobedo, Lizbeth; Ibarra, Catalina] Univ Autonoma Baja California, Ensenada, Baja California, Mexico.
[Hernandez, Jehu] Softek, Ensenada, Baja California, Mexico.
[Alvelais, Mariana] Cetys Univ, Mexicali, Baja California, Mexico.
[Tentori, Monica] Ctr Sci Res & Higher Educ CICESE, Ensenada, Baja California, Mexico.
RP Escobedo, L (reprint author), Univ Autonoma Baja California, Ensenada, Baja California, Mexico.
EM lescobedo@uabc.edu.mx; catalina.ibarra@uabc.edu.mx; jehu.hdez@gmail.com;
marina.alvelais@cetys.mx; mtentori@cicese.mx
FU Lizbeth Escobedo's CONACYT fellowship; Catalina Ibarra's CONACYT
fellowships; UCMexus Grant [634-237]; CONACYT Grant [10256]
FX We thank to Pasitos A. C. for their support. This work was funded
through Lizbeth Escobedo's and Catalina Ibarra's CONACYT fellowships and
through the UCMexus Grant #634-237 and CONACYT Grant #10256.
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NR 28
TC 0
Z9 0
PU SPRINGER LONDON LTD
PI LONDON
PA 236 GRAYS INN RD, 6TH FLOOR, LONDON WC1X 8HL, ENGLAND
SN 1617-4909
EI 1617-4917
J9 PERS UBIQUIT COMPUT
JI Pers. Ubiquitous Comput.
PD AUG
PY 2014
VL 18
IS 6
SI SI
BP 1485
EP 1497
DI 10.1007/s00779-013-0750-3
PG 13
WC Computer Science, Information Systems; Telecommunications
SC Computer Science; Telecommunications
GA AM5IW
UT WOS:000339891900018
ER
PT J
AU Warreyn, P
Van der Paelt, S
Roeyers, H
AF Warreyn, Petra
Van der Paelt, Sara
Roeyers, Herbert
TI Social-communicative abilities as treatment goals for preschool children
with autism spectrum disorder: the importance of imitation, joint
attention, and play
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Review
ID PERVASIVE DEVELOPMENTAL DISORDER; OF-THE-LITERATURE; YOUNG-CHILDREN;
PRETEND PLAY; LANGUAGE; INTERVENTION; PREDICTORS; TODDLERS; INFANTS;
SKILLS
AB Autism spectrum disorder (ASD) is a pervasive developmental disorder with a lifelong impact on multiple domains of functioning. Often, a diagnosis is possible by 3 years of age. Given the benefits of early intervention, it is advisable to start treatment as soon as possible after the diagnosis has been made. Among other factors, early intervention should focus on social-communicative abilities such as imitation, joint attention, and play. In this review, the typical developmental course and functions of these social-communicative abilities are described, and the problems young children with ASD experience in this domain. In addition, different approaches to promoting these abilities are explained. The authors recommend the inclusion of imitation, joint attention, and play as treatment goals in community settings for children with ASD.
C1 [Warreyn, Petra; Van der Paelt, Sara; Roeyers, Herbert] Univ Ghent, Dept Expt Clin & Hlth Psychol, B-9000 Ghent, Belgium.
RP Warreyn, P (reprint author), Univ Ghent, Dept Expt Clin & Hlth Psychol, Res Grp Dev Disorders, H Dunantlaan 2, B-9000 Ghent, Belgium.
EM Petra.Warreyn@ugent.be
FU ESF COST Action Enhancing the Scientific Study of Early Autism (ESSEA)
[BM1004]
FX The work of Herbert Roeyers and Petra Warreyn was supported by the ESF
COST Action BM1004 Enhancing the Scientific Study of Early Autism
(ESSEA). The authors have stated that they had no interests that might
be perceived as posing a conflict or bias.
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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 0012-1622
EI 1469-8749
J9 DEV MED CHILD NEUROL
JI Dev. Med. Child Neurol.
PD AUG
PY 2014
VL 56
IS 8
BP 712
EP 716
DI 10.1111/dmcn.12455
PG 5
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AL9VB
UT WOS:000339489500008
PM 24713028
ER
PT J
AU Halldner, L
Tillander, A
Lundholm, C
Boman, M
Langstrom, N
Larsson, H
Lichtenstein, P
AF Halldner, Linda
Tillander, Annika
Lundholm, Cecilia
Boman, Marcus
Langstrom, Niklas
Larsson, Henrik
Lichtenstein, Paul
TI Relative immaturity and ADHD: findings from nationwide registers,
parent- and self-reports
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE ADHD; child development; pharmacotherapy; epidemiological studies
ID DEFICIT HYPERACTIVITY DISORDER; ATTENTION-DEFICIT/HYPERACTIVITY
DISORDER; TELEPHONE INTERVIEW; AUTISM-TICS; A-TAC; AGE; BIRTH;
CHILDHOOD; DIAGNOSIS; CHILDREN
AB Background: We addressed if immaturity relative to peers reflected in birth month increases the likelihood of ADHD diagnosis and treatment. Methods: We linked nationwide Patient and Prescribed Drug Registers and used prospective cohort and nested case-control designs to study 6-69 year-old individuals in Sweden from July 2005 to December 2009 (Cohort 1). Cohort 1 included 56,263 individuals diagnosed with ADHD or ever used prescribed ADHD-specific medication. Complementary population-representative cohorts provided DSM-IV ADHD symptom ratings; parent-reported for 10,760 9-year-old twins born 1995-2000 from the CATSS study (Cohort 2) and self-reported for 6,970 adult twins age 20-47 years born 1959-1970 from the STAGE study (Cohort 3). We calculated odds ratios (OR:s) for ADHD across age for individuals born in November/December compared to January/February (Cohort 1). ADHD symptoms in Cohorts 2 and 3 were studied as a function of calendar birth month. Results: ADHD diagnoses and medication treatment were both significantly more common in individuals born in November/December versus January/February; peaking at ages 6 (OR: 1.8; 95% CI: 1.5-2.2) and 7 years (OR: 1.6; 95% CI: 1.3-1.8) in the Patient and Prescribed Drug Registers, respectively. We found no corresponding differences in parent-or self-reported ADHD symptoms by calendar birth month. Conclusion: Relative immaturity compared to class mates might contribute to ADHD diagnosis and pharmacotherapy despite absence of parallel findings in reported ADHD symptom loads by relative immaturity. Increased clinical awareness of this phenomenon may be warranted to decrease risk for imprecise diagnostics and treatment. We speculate that flexibility regarding age at school start according to individual maturity could reduce developmentally inappropriate demands on children and improve the precision of ADHD diagnostic practice and pharmacological treatment.
C1 [Halldner, Linda; Tillander, Annika; Lundholm, Cecilia; Boman, Marcus; Langstrom, Niklas; Larsson, Henrik; Lichtenstein, Paul] Karolinska Inst, Dept Med Epidemiol & Biostat, SE-11330 Stockholm, Sweden.
[Halldner, Linda] Karolinska Inst, Karolinska Inst Ctr Neurodev Disorders KIND, SE-11330 Stockholm, Sweden.
RP Halldner, L (reprint author), Karolinska Inst, CAP, Barn & Ungdomspsykiatriskt Forskningsctr, Gavlegatan 22B,Plan 8, SE-11330 Stockholm, Sweden.
EM linda.halldner@ki.se
FU Swedish Research Council [2010-3184]; Karolinska Institutet Center of
Neurodevelopmental Disorders (KIND)
FX This study was supported in part from Swedish Research Council
(2010-3184) and Karolinska Institutet Center of Neurodevelopmental
Disorders (KIND). The authors declare that they have no potential or
competing conflicts of interest.
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NR 36
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 AUG
PY 2014
VL 55
IS 8
BP 897
EP 904
DI 10.1111/jcpp.12229
PG 8
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AL8JO
UT WOS:000339384700007
PM 24673585
ER
PT J
AU Corbett, BA
Swain, DM
Newsom, C
Wang, L
Song, Y
Edgerton, D
AF Corbett, Blythe A.
Swain, Deanna M.
Newsom, Cassandra
Wang, Lily
Song, Yanna
Edgerton, Dale
TI Biobehavioral profiles of arousal and social motivation in autism
spectrum disorders
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Autism; cortisol; play; stress; social; interaction; behavior
ID SALIVARY CORTISOL; SQUIRREL-MONKEYS; PUBERTAL STATUS; CHILDREN; STRESS;
PLAY; SKILLS; COMMUNICATION; VALIDITY; INTERVENTIONS
AB Background: Children with autism spectrum disorder (ASD) are impaired in social communication and interaction with peers, which may reflect diminished social motivation. Many children with ASD show enhanced stress when playing with other children. This study investigated social and stress profiles of children with ASD during play. Methods: We utilized a peer interaction paradigm in a natural playground setting with 66 unmedicated, prepubertal, children aged 8-12 years [38 with ASD, 28 with typical development (TD)]. Salivary cortisol was collected before and after a 20-min playground interaction that was divided into periods of free and solicited play facilitated by a confederate child. Statistical analyses included Wilcoxon rank-sum tests, mixed effects models, and Spearman correlations to assess the between-group differences in social and stress functioning, identify stress responders, and explore associations between variables, respectively. Results: There were no differences between the groups during unsolicited free play; however, during solicited play by the confederate, significant differences emerged such that children with ASD engaged in fewer verbal interactions and more self-play than the TD group. Regarding physiological arousal, children with ASD as a group showed relatively higher cortisol in response to social play; however, there was a broad range of responses. Moreover, those with the highest cortisol levels engaged in less social communication. Conclusions: The social interaction of children with ASD can be facilitated by peer solicitation; however, it may be accompanied by increased stress. The children with ASD that have the highest level of cortisol show less social motivation; yet, it is unclear if it reflects an underlying state of heightened arousal or enhanced reactivity to social engagement, or both.
C1 [Corbett, Blythe A.; Newsom, Cassandra] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37203 USA.
[Corbett, Blythe A.] Vanderbilt Univ, Dept Psychol, Nashville, TN 37203 USA.
[Corbett, Blythe A.; Swain, Deanna M.; Newsom, Cassandra; Wang, Lily] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Nashville, TN 37203 USA.
[Wang, Lily; Song, Yanna] Vanderbilt Univ, Dept Biostat, Nashville, TN 37203 USA.
[Edgerton, Dale] Vanderbilt Univ, Dept Mol Physiol & Biophys, Nashville, TN 37203 USA.
RP Corbett, BA (reprint author), Vanderbilt Univ, PMB 40,230 Appleton Pl, Nashville, TN 37203 USA.
EM blythe.corbett@vanderbilt.edu
FU National Institute of Mental Health [R01 MH085717]; National Institute
of Child Development Grant [P30 HD15052]; NIH [DK059637, DK020593]
FX The study was funded by the National Institute of Mental Health R01
MH085717 awarded to Blythe Corbett and a National Institute of Child
Development Grant P30 HD15052 to Vanderbilt Kennedy Center (VKC). The
authors thank Eric Allen (VUMC Hormone Assay and Analytical Services
Core, supported by NIH grants DK059637 and DK020593) for validation and
completion of the cortisol assays. The authors have declared that they
have no potential or competing conflicts of interest.
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NR 58
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 AUG
PY 2014
VL 55
IS 8
BP 924
EP 934
DI 10.1111/jcpp.12184
PG 11
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AL8JO
UT WOS:000339384700010
PM 24329926
ER
PT J
AU Ausderau, KK
Furlong, M
Sideris, J
Bulluck, J
Little, LM
Watson, LR
Boyd, BA
Belger, A
Dickie, VA
Baranek, GT
AF Ausderau, Karla K.
Furlong, Melissa
Sideris, John
Bulluck, John
Little, Lauren M.
Watson, Linda R.
Boyd, Brian A.
Belger, Aysenil
Dickie, Virginia A.
Baranek, Grace T.
TI Sensory subtypes in children with autism spectrum disorder: latent
profile transition analysis using a national survey of sensory features
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Children; autism; sensory; latent profile transition analysis; subtypes
ID DEVELOPMENTAL DELAYS; EXPERIENCES QUESTIONNAIRE; TYPICAL DEVELOPMENT;
ADAPTIVE-BEHAVIOR; OVER-RESPONSIVITY; YOUNG-CHILDREN; PATTERNS;
INTERVENTIONS; POTENTIALS; PERCEPTION
AB Background: Sensory features are highly prevalent and heterogeneous among children with ASD. There is a need to identify homogenous groups of children with ASD based on sensory features (i.e. sensory subtypes) to inform research and treatment. Methods: Sensory subtypes and their stability over 1 year were identified through latent profile transition analysis (LPTA) among a national sample of children with ASD. Data were collected from caregivers of children with ASD ages 2-12 years at two time points (Time 1 N = 1294; Time 2 N = 884). Results: Four sensory subtypes (Mild; Sensitive-Distressed; Attenuated-Preoccupied; Extreme-Mixed) were identified, which were supported by fit indices from the LPTA as well as current theoretical models that inform clinical practice. The Mild and Extreme-Mixed subtypes reflected quantitatively different sensory profiles, while the Sensitive-Distressed and Attenuated-Preoccupied subtypes reflected qualitatively different profiles. Further, subtypes reflected differential child (i.e. gender, developmental age, chronological age, autism severity) and family (i.e. income, mother's education) characteristics. Ninety-one percent of participants remained stable in their subtypes over 1 year. Conclusions: Characterizing the nature of homogenous sensory subtypes may facilitate assessment and intervention, as well as potentially inform biological mechanisms.
C1 [Ausderau, Karla K.; Furlong, Melissa; Bulluck, John; Little, Lauren M.; Watson, Linda R.; Boyd, Brian A.; Dickie, Virginia A.; Baranek, Grace T.] Univ N Carolina, Dept Allied Hlth Sci, Chapel Hill, NC USA.
[Ausderau, Karla K.] Univ Wisconsin, Occupat Therapy Program, Dept Kinesiol, Madison, WI 53706 USA.
[Sideris, John] Univ N Carolina, Frank Porter Graham Child Dev Inst, Chapel Hill, NC USA.
[Belger, Aysenil] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA.
RP Ausderau, KK (reprint author), Univ Wisconsin, Med Sci Ctr 3195, Dept Kinesiol, Occupat Therapy Program, 1300 Univ Ave, Madison, WI 53706 USA.
EM kausderau@wisc.edu
FU National Institute for Child Health and Human Development (ARRA
Supplement) [A10-0589, R01-HD42168]; Neurodevelopmental Disorders
Research Center Autism Subject Registry at The University of North
Carolina at Chapel Hill [P30-HD03110]
FX This research was supported by grants from the National Institute for
Child Health and Human Development (ARRA Supplement A10-0589;
R01-HD42168) and The Neurodevelopmental Disorders Research Center Autism
Subject Registry at The University of North Carolina at Chapel Hill
(P30-HD03110). The authors thank the families that participated in the
study as well as the research team at the Sensory Experiences Project.
They also thank Aaron Thompson at University of Missouri for sharing his
expertise regarding latent profile transition analysis. They thank the
Interactive Autism Network (IAN) Project at the Kennedy Krieger
Institute, Baltimore, Maryland, the University of North Carolina at
Chapel Hill Research Registry, and the multiple other autism
organizations who assisted in recruitment. All authors have declared
that they have no potential or competing conflicts of interest.
CR Allison PD, 2001, MISSING DATA
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Ausderau K., 2013, J AUTISM DEV DISORD, P1
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NR 47
TC 1
Z9 1
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 AUG
PY 2014
VL 55
IS 8
BP 935
EP 944
DI 10.1111/jcpp.12219
PG 10
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AL8JO
UT WOS:000339384700011
PM 25039572
ER
PT J
AU Wolff, JJ
Botteron, KN
Dager, SR
Elison, JT
Estes, AM
Gu, HB
Hazlett, HC
Pandey, J
Paterson, SJ
Schultz, RT
Zwaigenbaum, L
Piven, J
AF Wolff, Jason J.
Botteron, Kelly N.
Dager, Stephen R.
Elison, Jed T.
Estes, Annette M.
Gu, Hongbin
Hazlett, Heather C.
Pandey, Juhi
Paterson, Sarah J.
Schultz, Robert T.
Zwaigenbaum, Lonnie
Piven, Joseph
CA IBIS Network
TI Longitudinal patterns of repetitive behavior in toddlers with autism
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Autism; repetitive behavior; high-risk siblings
ID SPECTRUM DISORDERS; STEREOTYPED MOVEMENTS; YOUNG-CHILDREN; SIBLINGS;
INFANTS; AGE; INDIVIDUALS; ASSOCIATION; ATTENTION; SAMPLE
AB Background: Recent evidence suggests that restricted and repetitive behaviors may differentiate children who develop autism spectrum disorder (ASD) by late infancy. How these core symptoms manifest early in life, particularly among infants at high risk for the disorder, is not well characterized. Methods: Prospective, longitudinal parent-report data (Repetitive Behavior Scales-Revised) were collected for 190 high-risk toddlers and 60 low-risk controls from 12 to 24 months of age. Forty-one high-risk children were classified with ASD at age 2. Profiles of repetitive behavior were compared between groups using generalized estimating equations. Results: Longitudinal profiles for children diagnosed with ASD differed significantly from high-and low-risk children without the disorder on all measures of repetitive behavior. High-risk toddlers without ASD were intermediate to low risk and ASD positive counterparts. Toddlers with ASD showed significantly higher rates of repetitive behavior across subtypes at the 12-month time point. Repetitive behaviors were significantly correlated with adaptive behavior and socialization scores among children with ASD at 24 months of age, but were largely unrelated to measures of general cognitive ability. Conclusions: These findings suggest that as early as 12 months of age, a broad range of repetitive behaviors are highly elevated in children who go on to develop ASD. While some degree of repetitive behavior is elemental to typical early development, the extent of these behaviors among children who develop ASD appears highly atypical.
C1 [Wolff, Jason J.; Hazlett, Heather C.; Piven, Joseph] Univ N Carolina, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA.
[Gu, Hongbin; Hazlett, Heather C.; Piven, Joseph] Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA.
[Botteron, Kelly N.] Washington Univ, Dept Psychiat, St Louis, MO USA.
[Dager, Stephen R.] Univ Washington, Dept Radiol, Seattle, WA 98195 USA.
[Elison, Jed T.] CALTECH, Div Humanities & Social Sci, Pasadena, CA 91125 USA.
[Estes, Annette M.] Univ Washington, Dept Speech & Hearing Sci, Seattle, WA 98195 USA.
[Pandey, Juhi; Paterson, Sarah J.; Schultz, Robert T.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA.
[Zwaigenbaum, Lonnie] Univ Alberta, Dept Pediat, Edmonton, AB, Canada.
RP Wolff, JJ (reprint author), Univ N Carolina, Carolina Inst Dev Disabil, CB 3367, Chapel Hill, NC 27599 USA.
EM jason.wolff@cidd.unc.edu
RI Pike, Bruce/K-5562-2014
OI Pike, Bruce/0000-0001-8924-683X
FU NIH [R01-HD055741, HD055741-S1, K01-MN101653, P30-HD03110]; Autism
Speaks; Simons Foundation; IBIS Network is an NIH
FX This study was supported by grants from NIH (R01-HD055741, HD055741-S1,
K01-MN101653, & P30-HD03110), Autism Speaks, and the Simons Foundation.
The authors thank 'The Infant Brain Imaging Study (IBIS) Network'
families for participating in this research. IBIS Network is an NIH
funded Autism Center of Excellence project and consists of a consortium
of seven universities in the United States and Canada. Clinical Sites:
University of North Carolina: J. Piven (IBIS Network PI), H. C. Hazlett,
J. C. Chappell; University of Washington: S. Dager, A. Estes, D. Shaw;
Washington University: K. Botteron, R. McKinstry, J. Constantino, J.
Pruett; Children's Hospital of Philadelphia: R. Schultz, S. Paterson;
University of Alberta: L. Zwaigenbaum; Data Coordinating Center:
Montreal Neurological Institute: A. C. Evans, D. L. Collins, G. B. Pike,
P. Kostopolous, S. Das; Image Processing Core: University of Utah: G.
Gerig; University of North Carolina: M. Styner; Statistical Analysis
Core: University of North Carolina: H. Gu; Genetics Analysis Core:
University of North Carolina: P. Sullivan, F. Wright. All authors have
declared that they have no potential or competing conflicts of interest.
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WOLFF PH, 1967, B MENNINGER CLIN, V31, P197
NR 44
TC 3
Z9 3
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 AUG
PY 2014
VL 55
IS 8
BP 945
EP 953
DI 10.1111/jcpp.12207
PG 9
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AL8JO
UT WOS:000339384700012
PM 24552513
ER
PT J
AU Huang, TN
Chuang, HC
Hsueh, YP
AF Huang, T. N.
Chuang, H. C.
Hsueh, Y. P.
TI Tbr1 haploinsufficiency impairs amygdalar axonal projections and results
in autism-like abnormality
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Meeting Abstract
CT 12th Biennial Meeting of the Asian-Pacific-Society-for-Neurochemistry
CY AUG 23-26, 2014
CL Kaohsiung, TAIWAN
SP Asian Pacific Soc Neurochemistry
C1 [Huang, T. N.; Chuang, H. C.; Hsueh, Y. P.] Acad Sinica, Inst Mol Biol, Taipei, Taiwan.
[Chuang, H. C.; Hsueh, Y. P.] Natl Def Med Ctr, Grad Inst Life Sci, Taipei, Taiwan.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0022-3042
EI 1471-4159
J9 J NEUROCHEM
JI J. Neurochem.
PD AUG
PY 2014
VL 130
SU 1
SI SI
MA YIC01-3
BP 26
EP 26
PG 1
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AL9VZ
UT WOS:000339492800054
ER
PT J
AU Godavarthi, SK
Sharma, A
Jana, NR
AF Godavarthi, Swetha K.
Sharma, Ankit
Jana, Nihar Ranjan
TI Reversal of reduced parvalbumin neurons in hippocampus and amygdala of
Angelman syndrome model mice by chronic treatment of fluoxetine
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Article
DE angelman syndrome; anxiety; chronic stress; fluoxetine; parvalbumin
ID LONG-TERM POTENTIATION; RAT HIPPOCAMPUS; ANTIDEPRESSANT FLUOXETINE;
POSTNATAL-DEVELOPMENT; MOUSE MODEL; INTERNEURONS; EXPRESSION; ANXIETY;
DEFICITS; PROTEIN
AB Angelman syndrome (AS) is a neuropsychiatric disorder characterized by autism, intellectual disability and motor disturbances. The disease is primarily caused by the loss of function of maternally inherited UBE3A. Ube3a maternal-deficient mice recapitulates many essential feature of AS. These AS mice have been shown to be under chronic stress and exhibits anxiety-like behaviour because of defective glucocorticoid receptor signalling. Here, we demonstrate that chronic stress in these mice could lead to down-regulation of parvalbumin-positive interneurons in the hippocampus and basolateral amygdala from early post-natal days. Down-regulation of parvalbumin-positive interneurons number could be because of decrease in the expression of parvalbumin in these neurons. We also find that treatment with fluoxetine, a selective serotonin reuptake inhibitor, results in restoration of impaired glucocorticoid signalling, elevated serum corticosterone level, parvalbumin-positive interneurons and anxiety-like behaviours. Our findings suggest that impaired glucocorticod signalling in hippocampus and amygdala of AS mice is critical for the decrease in parvalbumin interneurons number, emergence of anxiety and other behavioural deficits and highlights the importance of fluoxetine in the recovery of these abnormalities.
C1 [Godavarthi, Swetha K.; Sharma, Ankit; Jana, Nihar Ranjan] Natl Brain Res Ctr, Cellular & Mol Neurosci Lab, Manesar, Gurgaon, India.
RP Jana, NR (reprint author), Natl Brain Res Ctr, Cellular & Mol Neurosci Lab, Manesar, Gurgaon, India.
EM nihar@nbrc.ac.in
FU Department of Biotechnology [BT/HRD/34/18/2008]
FX This work was supported by the core grant from the Department of
Biotechnology to the National Brain Research Centre, Government of
India. NRJ is a recipient of National Bioscience Award for Career
Development from Department of Biotechnology (BT/HRD/34/18/2008).
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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 0022-3042
EI 1471-4159
J9 J NEUROCHEM
JI J. Neurochem.
PD AUG
PY 2014
VL 130
IS 3
BP 444
EP 454
DI 10.1111/jnc.12726
PG 11
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AL9RU
UT WOS:000339479200011
PM 24678582
ER
PT J
AU [Anonymous]
AF [Anonymous]
TI ASSESSING BABIES' RISK OF AUTISM AND ADHD
SO PSYCHOLOGIST
LA English
DT News Item
NR 0
TC 0
Z9 0
PU BRITISH PSYCHOLOGICAL SOC
PI LEICESTER
PA ST ANDREWS HOUSE, 48 PRINCESS RD EAST, LEICESTER LE1 7DR, LEICS, ENGLAND
SN 0952-8229
J9 PSYCHOLOGIST
JI Psychologist
PD AUG
PY 2014
VL 27
IS 8
BP 566
EP 566
PG 1
WC Psychology, Multidisciplinary
SC Psychology
GA AM1ZH
UT WOS:000339647300015
ER
PT J
AU Doers, ME
Musser, MT
Nichol, R
Berndt, ER
Baker, M
Gomez, TM
Zhang, SC
Abbeduto, L
Bhattacharyya, A
AF Doers, Matthew E.
Musser, Michael T.
Nichol, Robert
Berndt, Erich R.
Baker, Mei
Gomez, Timothy M.
Zhang, Su-Chun
Abbeduto, Leonard
Bhattacharyya, Anita
TI iPSC-Derived Forebrain Neurons from FXS Individuals Show Defects in
Initial Neurite Outgrowth
SO STEM CELLS AND DEVELOPMENT
LA English
DT Article
ID FRAGILE-X-SYNDROME; PLURIPOTENT STEM-CELLS; MENTAL-RETARDATION PROTEIN;
FMR1 MESSENGER-RNA; DIRECTED DIFFERENTIATION; NEURAL DIFFERENTIATION;
CGG EXPANSIONS; FULL MUTATION; GENE; EXPRESSION
AB Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and is closely linked with autism. The genetic basis of FXS is an expansion of CGG repeats in the 5 -untranslated region of the FMR1 gene on the X chromosome leading to the loss of expression of the fragile X mental retardation protein (FMRP). The cause of FXS has been known for over 20 years, yet the full molecular and cellular consequences of this mutation remain unclear. Although mouse and fly models have provided significant understanding of this disorder and its effects on the central nervous system, insight from human studies is limited. We have created human induced pluripotent stem cell (iPSC) lines from fibroblasts obtained from individuals with FXS to enable in vitro modeling of the human disease. Three young boys with FXS who came from a well-characterized cohort representative of the range of affectedness typical for the syndrome were recruited to aid in linking cellular and behavioral phenotypes. The FMR1 mutation is preserved during the reprogramming of patient fibroblasts to iPSCs. Mosaicism of the CGG repeat length in one of the patient's fibroblasts allowed for the generation of isogenic lines with differing CGG repeat lengths from the same patient. FXS forebrain neurons were differentiated from these iPSCs and display defective neurite initiation and extension. These cells provide a well-characterized resource to examine potential neuronal deficits caused by FXS as well as the function of FMRP in human neurons.
C1 [Doers, Matthew E.; Musser, Michael T.; Berndt, Erich R.; Zhang, Su-Chun; Abbeduto, Leonard; Bhattacharyya, Anita] Univ Wisconsin, Waisman Ctr, Madison, WI 53705 USA.
[Nichol, Robert; Gomez, Timothy M.; Zhang, Su-Chun] Univ Wisconsin, Sch Med & Publ Hlth, Neurosci Training Program, Madison, WI 53705 USA.
[Nichol, Robert; Gomez, Timothy M.; Zhang, Su-Chun] Univ Wisconsin, Sch Med & Publ Hlth, Dept Neurosci, Madison, WI 53705 USA.
[Baker, Mei] Univ Wisconsin, Sch Med & Publ Hlth, Dept Pediat, Madison, WI 53705 USA.
[Baker, Mei] Univ Wisconsin, Wisconsin State Lab Hyg, Madison, WI 53706 USA.
[Baker, Mei] Newborn Screening Lab, Madison, WI USA.
[Zhang, Su-Chun] Univ Wisconsin, Sch Med & Publ Hlth, Dept Neurol, Madison, WI 53705 USA.
[Abbeduto, Leonard] Univ Calif Davis, Dept Psychiat & Behav Sci, MIND Inst, Sacramento, CA 95817 USA.
RP Bhattacharyya, A (reprint author), Univ Wisconsin, Waisman Ctr 623, 1500 Highland Ave, Madison, WI 53705 USA.
EM bhattacharyy@waisman.wisc.edu
FU National Institutes of Health National Center for Advancing
Translational Sciences (NCATS) [UL1TR000427]; FRAXA Research Foundation
Grant; NIH [R01 HD054764, R01 NS41564]; Heckrodt Family Foundation
Grant; NIH-NICHD [P30 HD03352]
FX The authors thank Xinyu Zhao and members of the Waisman Center Fragile X
Focus Group for helpful discussions. We thank Xiaoqing Zhang, Jianfeng
Lu, and Yingnan Yin in the Waisman Center iPSC core for reprogramming
services. We also thank Jason P. Weick for assistance with neuronal
differentiation and Anne Antkins and Rebecca Reese for technical
assistance. The project was supported by grant UL1TR000427 to the
University of Wisconsin Institute for Clinical and Translational
Research by the National Institutes of Health National Center for
Advancing Translational Sciences (NCATS) (A.B.), a FRAXA Research
Foundation Grant (A.B.), NIH R01 HD054764 (L.A.) and NIH R01 NS41564
(T.M.G.). This work was also funded in part by a Heckrodt Family
Foundation Grant to the Waisman Center and a core grant from the
NIH-NICHD (P30 HD03352).
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NR 65
TC 1
Z9 1
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1547-3287
EI 1557-8534
J9 STEM CELLS DEV
JI Stem Cells Dev.
PD AUG 1
PY 2014
VL 23
IS 15
BP 1777
EP 1787
DI 10.1089/scd.2014.0030
PG 11
WC Cell & Tissue Engineering; Hematology; Medicine, Research &
Experimental; Transplantation
SC Cell Biology; Hematology; Research & Experimental Medicine;
Transplantation
GA AL7MK
UT WOS:000339317700007
PM 24654675
ER
PT J
AU Reiter, J
Rosen, D
AF Reiter, Joel
Rosen, Dennis
TI The diagnosis and management of common sleep disorders in adolescents
SO CURRENT OPINION IN PEDIATRICS
LA English
DT Review
DE delayed sleep-phase syndrome; insufficient sleep; narcolepsy;
obstructive sleep apnea; sleep hygiene
ID APNEA; DURATION; CHILDREN; NARCOLEPSY; EPIDEMIOLOGY; TECHNOLOGY;
PATTERNS; CAFFEINE; RISK
AB Purpose of review
Sleep problems in adolescents are very common and negatively impact the quality of their health and lives, yet often go undiagnosed. This review is meant to familiarize pediatricians with some of the more commonly encountered sleep disorders in this age group, and to review their diagnosis and management.
Recent findings
Recent findings reinforce the ubiquity of insufficient and poor-quality sleep in teens and their consequences on physical and mental health, cognition, and behavior. Increasing use of technology by teens, especially at night, plays a growing role in this. Parentally set bedtimes can be effective in increasing the sleep duration, thereby diminishing the consequences of insufficient sleep. Parasomnias, common in early childhood, usually diminish with the transition into adolescence. An almost 10-fold increase in the incidence of narcolepsy has been reported following the use of one type of vaccination against influenza H1N1 in Europe. Recent guidelines for the diagnosis and management of obstructive sleep apnea are reviewed, as are recent guidelines pertaining to the management of sleep disorders of children on the autism spectrum.
Summary
Sleep disorders in adolescents are both very common and underdiagnosed, adversely affecting their overall well being.
C1 [Reiter, Joel] Harvard Univ, Beth Israel Deaconess Med Ctr, Sch Med, Div Pulm Crit Care & Sleep Med, Boston, MA 02215 USA.
[Reiter, Joel; Rosen, Dennis] Harvard Univ, Sch Med, Boston Childrens Hosp, Ctr Pediat Sleep Disorders, Boston, MA USA.
[Rosen, Dennis] Harvard Univ, Sch Med, Boston Childrens Hosp, Div Resp Dis, Boston, MA USA.
RP Reiter, J (reprint author), Boston Childrens Hosp, Ctr Pediat Sleep Disorders, 9 Hope Ave, Waltham, MA 02453 USA.
EM Joel.reiter@childrens.harvard.edu
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NR 47
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 1040-8703
EI 1531-698X
J9 CURR OPIN PEDIATR
JI CURR. OPIN. PEDIATR.
PD AUG
PY 2014
VL 26
IS 4
BP 407
EP 412
DI 10.1097/MOP.0000000000000113
PG 6
WC Pediatrics
SC Pediatrics
GA AL5FI
UT WOS:000339158500002
PM 24932653
ER
PT J
AU Ramisch, JL
Onaga, E
Oh, SM
AF Ramisch, Julie L.
Onaga, Esther
Oh, Su Min
TI Keeping a Sound Marriage: How Couples with Children with Autism Spectrum
Disorders Maintain Their Marriages
SO JOURNAL OF CHILD AND FAMILY STUDIES
LA English
DT Article
DE Autism; Communication; Concept mapping; Couples; Marriage
ID MARITAL SATISFACTION SCALE; COPING BEHAVIORS; PARENTS; FAMILIES; STRESS;
DISABILITIES; EXPERIENCES; ADJUSTMENT; IMPACT; WELL
AB This study focused on strengths and variables that contribute to marital successes for couples with children with autism spectrum disorders (in this article, referred to as "autism"). Particularly, the purpose of this study was to examine what husbands and wives with children with autism in contrast to couples with children who are typically developing identify as helpful to maintaining their marriages. Concept mapping methodology was used for this research study. Couples with children with autism and couples with children who are typically developing participated in telephone interviews and then grouped and rated the statements generated from their interviews. Groupings were translated into pictorial maps showing relationships and patterns. Couples with children with autism shared common perceptions about factors that help to keep their marriages strong: communication and shared foundational ideas about marriage. Communication was a cluster for all groups of husbands and wives. Only mothers of children with autism identified time for self-care as a distinct cluster.
C1 [Ramisch, Julie L.] No Illinois Univ, Sch Family Consumer & Nutr Sci, De Kalb, IL 60115 USA.
[Onaga, Esther] Michigan State Univ, E Lansing, MI 48824 USA.
[Oh, Su Min] Michigan Dept Community Hlth, Lansing, MI USA.
RP Ramisch, JL (reprint author), No Illinois Univ, Sch Family Consumer & Nutr Sci, De Kalb, IL 60115 USA.
EM jramisch@niu.edu
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NR 35
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1062-1024
EI 1573-2843
J9 J CHILD FAM STUD
JI J. Child Fam. Stud.
PD AUG
PY 2014
VL 23
IS 6
BP 975
EP 988
DI 10.1007/s10826-013-9753-y
PG 14
WC Family Studies; Psychology, Developmental; Psychiatry
SC Family Studies; Psychology; Psychiatry
GA AL4PM
UT WOS:000339114900003
ER
PT J
AU Kaluzna-Czaplinska, J
Zurawicz, E
Jozwik, J
AF Kaluzna-Czaplinska, Joanna
Zurawicz, Ewa
Jozwik, Jagoda
TI Chromatographic techniques coupled with mass spectrometry for the
determination of organic acids in the study of autism
SO JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL
AND LIFE SCIENCES
LA English
DT Review
DE Chromatographic methods; Mass spectrometry; Organic acids; Autism
ID HOMOVANILLIC-ACID; CEREBROSPINAL-FLUID; DICARBOXYLIC-ACIDS;
METHYLMALONIC ACID; VANILLYLMANDELIC ACID; LIQUID-CHROMATOGRAPHY;
PEDIATRIC POPULATION; URINARY-EXCRETION; CHILDREN; HVA
AB Chromatographic methods find application in the diagnostics and prognosis of diseases. They are used in finding new biomarkers, which may result in early medical intervention. Early diagnosis and intervention are especially important in the case of diseases of unknown etiology. One of these is autism. Autism is a neurodevelopmental disorder characterized by severe impairment in reciprocal social interaction and communication and a pattern of repetitive or stereotyped behavior. Organic acids are intermediate metabolites of all major groups of organic cellular components and can play a role in the pathogenesis of autism. This review presents information about abnormal levels of some organic acids observed in the urine of children with autism and determination of acids with the use of chromatographic techniques. 342 literature sources on frequency (2005-2012) of the use of chromatographic methods in the determination of organic compounds in various body fluids were searched. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Kaluzna-Czaplinska, Joanna; Zurawicz, Ewa; Jozwik, Jagoda] Lodz Univ Technol, Dept Chem, Inst Gen & Ecol Chem, PL-90924 Lodz, Poland.
RP Kaluzna-Czaplinska, J (reprint author), Lodz Univ Technol, Dept Chem, Inst Gen & Ecol Chem, Zeromskiego 116, PL-90924 Lodz, Poland.
EM jkaluzna@p.lodz.pl
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NR 80
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 AUG 1
PY 2014
VL 964
SI SI
BP 128
EP 135
DI 10.1016/j.jchromb.2013.10.026
PG 8
WC Biochemical Research Methods; Chemistry, Analytical
SC Biochemistry & Molecular Biology; Chemistry
GA AL2SZ
UT WOS:000338977000012
PM 24210941
ER
PT J
AU O'Neill, K
LeCouteur, A
AF O'Neill, Katherine
LeCouteur, Amanda
TI Naming the problem: a membership categorization analysis study of family
therapy
SO JOURNAL OF FAMILY THERAPY
LA English
DT Article
DE membership categorization analysis; family therapy; high-functioning
autism; school exclusion
ID DISCOURSE ANALYSIS; REFLECTIONS
AB Discursive research has examined family therapy as a process of collaboratively negotiating a preferable account of the problem. The present study uses membership categorization analysis to examine how this process occurs in a sequence of family therapy sessions with the family of a 15-year-old boy diagnosed with high-functioning autism and experiencing conflict with his school. The analysis focuses on the deployment of the membership categorization device 'disability' in the construction of the problem and the use of the devices 'family' and 'stages-of-life' to construct a new, problem-dissolving account. Conclusions are drawn about the potential usefulness of recategorization via naturally occurring membership categorization devices in constructing solutions in family therapy.
C1 [O'Neill, Katherine] New England Medicare Local, Inverell, NSW 2360, Australia.
[LeCouteur, Amanda] Univ Adelaide, Fac Hlth Sci, Sch Psychol, Adelaide, SA 5005, Australia.
RP O'Neill, K (reprint author), New England Medicare Local, 20 Chester St, Inverell, NSW 2360, Australia.
EM koneill@live.com.au
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NR 23
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0163-4445
EI 1467-6427
J9 J FAM THER
JI J. Fam. Ther.
PD AUG
PY 2014
VL 36
IS 3
BP 268
EP 286
DI 10.1111/1467-6427.12008
PG 19
WC Psychology, Clinical; Family Studies
SC Psychology; Family Studies
GA AL6YI
UT WOS:000339279300005
ER
PT J
AU Williams, JL
Faucett, WA
Smith-Packard, B
Wagner, M
Williams, MS
AF Williams, Janet L.
Faucett, W. Andrew
Smith-Packard, Bethanny
Wagner, Monisa
Williams, Marc S.
TI An Assessment of Time Involved in Pre-test Case Review and Counseling
for a Whole Genome Sequencing Clinical Research Program
SO JOURNAL OF GENETIC COUNSELING
LA English
DT Article
DE Whole genome sequencing; Time study; Electronic health record; Genetic
counseling; Intellectual disability
ID EXOME
AB Whole genome sequencing (WGS) is being used for evaluation of individuals with undiagnosed disease of suspected genetic origin. Implementing WGS into clinical practice will place an increased burden upon care teams with regard to pre-test patient education and counseling about results. To quantitate the time needed for appropriate pre-test evaluation of participants in WGS testing, we documented the time spent by our clinical research group on various activities related to program preparation, participant screening, and consent prior to WGS. Participants were children or young adults with autism, intellectual or developmental disability, and/or congenital anomalies, who have remained undiagnosed despite previous evaluation, and their biologic parents. Results showed that significant time was spent in securing allocation of clinical research space to counsel participants and families, and in acquisition and review of participant's medical records. Pre-enrollment chart review identified two individuals with existing diagnoses resulting in savings of $30,000 for the genome sequencing alone, as well as saving hours of personnel time for genome interpretation and communication of WGS results. New WGS programs should plan for costs associated with additional pre-test administrative planning and patient evaluation time that will be required to provide high quality care.
C1 [Williams, Janet L.; Faucett, W. Andrew; Smith-Packard, Bethanny; Wagner, Monisa; Williams, Marc S.] Geisinger Hlth Syst, Genom Med Inst, Danville, PA 17822 USA.
RP Williams, JL (reprint author), Geisinger Hlth Syst, Genom Med Inst, 100 N Acad Ave, Danville, PA 17822 USA.
EM jlwilliams3@geisinger.edu
FU IRB approved program "Whole Genome Sequencing for Undiagnosed Children"
FX This work was funded with internal Geisinger Health System research
funding for the IRB approved program "Whole Genome Sequencing for
Undiagnosed Children." We are grateful for the vision articulated by
David Ledbetter, W. Andrew Faucett, and Judith Argon in challenging the
leadership to fund exploratory use of WGS. We would like to thank the
genome workgroup and the program oversight committee for their
invaluable contribution. We would like to thank Sandy M. Field for her
editorial assistance in the preparation of this manuscript. We are
particularly grateful to the study participants who agreed to embark on
this journey into the use of whole genome sequencing in undiagnosed
children.
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Worthey E., 2012, BMC P S6, V6, P011
NR 8
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1059-7700
EI 1573-3599
J9 J GENET COUNS
JI J. Genet. Couns.
PD AUG
PY 2014
VL 23
IS 4
BP 516
EP 521
DI 10.1007/s10897-014-9697-4
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA AL8FV
UT WOS:000339374400010
PM 24573557
ER
PT J
AU Asaro-Saddler, K
Bak, N
AF Asaro-Saddler, Kristie
Bak, Nicole
TI Persuasive Writing and Self-Regulation Training for Writers With Autism
Spectrum Disorders
SO JOURNAL OF SPECIAL EDUCATION
LA English
DT Article
DE autism spectrum disorders; writing instruction; self-regulation
ID LEARNING-DISABLED STUDENTS; STRUGGLING YOUNG WRITERS;
STRATEGY-DEVELOPMENT; ASPERGER-SYNDROME; EXECUTIVE DYSFUNCTION; PLANNING
INSTRUCTION; DISABILITIES; CHILDREN; ADOLESCENTS; PERFORMANCE
AB In this single-subject study, we examined the effects of a persuasive writing and self-regulation strategy on the writing of children with autism spectrum disorders (ASD). Six children with ASD worked in pairs to learn a mnemonic-based strategy for planning and writing a persuasive essay using the self-regulated strategy development (SRSD) approach. Postintervention analysis revealed increases for all students in number of essay elements and holistic quality. Evidence of planning and self-regulation behaviors was also noted. Results support the assertion that utilizing a peer component to teach strategy instruction coupled with self-regulation procedures can positively affect the writing of children with ASD.
C1 [Asaro-Saddler, Kristie; Bak, Nicole] SUNY Albany, Albany, NY 12222 USA.
RP Asaro-Saddler, K (reprint author), SUNY Albany, ED 228, Albany, NY 12222 USA.
EM ksaddler@albany.edu
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NR 60
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0022-4669
EI 1538-4764
J9 J SPEC EDUC
JI J. Spec. Educ.
PD AUG
PY 2014
VL 48
IS 2
BP 92
EP 105
DI 10.1177/0022466912474101
PG 14
WC Education, Special
SC Education & Educational Research
GA AL2AJ
UT WOS:000338927900002
ER
PT J
AU Regan, K
Berkeley, S
Hughes, M
Kirby, S
AF Regan, Kelley
Berkeley, Sheri
Hughes, Melissa
Kirby, Suzanne
TI Effects of Computer-Assisted Instruction for Struggling Elementary
Readers With Disabilities
SO JOURNAL OF SPECIAL EDUCATION
LA English
DT Article
DE computer-assisted instruction; word recognition; reading; direct
instruction
ID LEARNING-DISABILITIES; READING-ACHIEVEMENT; STUDENTS; TECHNOLOGY;
INTERVENTIONS; COMPREHENSION; FLUENCY; AUTISM; SKILLS; RISK
AB Despite a lack of conclusive evidence, many researchers in the field view computer-assisted instruction (CAI) as an opportunity for improved instruction for students with disabilities. This study examined the effects of a CAI program, Lexia Strategies for Older Students (SOS) T on the word recognition skills of four, upper elementary students with mild disabilities. This study used a multiple-probe design across three targeted reading skill conditions per student. Findings revealed that some students were able to meet mastery of basic word reading skills with Lexia SOS alone, while others needed additional direct instruction. Student perceptions of Lexia SOS were positive. Results have particular implications for instruction in classrooms beyond the primary grades (K-3) when the focus of the curriculum shifts away from basic decoding instruction. Directions for future research are discussed.
C1 [Regan, Kelley; Berkeley, Sheri; Hughes, Melissa; Kirby, Suzanne] George Mason Univ, Fairfax, VA 22030 USA.
RP Regan, K (reprint author), George Mason Univ, Finley Bldg,Room 213,4400 Univ Dr,MS 1F2, Fairfax, VA 22030 USA.
EM kregan@gmu.edu
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What Works Clearinghouse, 2009, LEX READ
NR 48
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0022-4669
EI 1538-4764
J9 J SPEC EDUC
JI J. Spec. Educ.
PD AUG
PY 2014
VL 48
IS 2
BP 106
EP 119
DI 10.1177/0022466913497261
PG 14
WC Education, Special
SC Education & Educational Research
GA AL2AJ
UT WOS:000338927900003
ER
PT J
AU Becker, JAJ
Clesse, D
Spiegelhalter, C
Schwab, Y
Le Merrer, J
Kieffer, BL
AF Becker, Jerome A. J.
Clesse, Daniel
Spiegelhalter, Coralie
Schwab, Yannick
Le Merrer, Julie
Kieffer, Brigitte L.
TI Autistic-Like Syndrome in Mu Opioid Receptor Null Mice is Relieved by
Facilitated mGluR4 Activity
SO NEUROPSYCHOPHARMACOLOGY
LA English
DT Article
ID MESSENGER-RNA EXPRESSION; SPECTRUM DISORDERS; SOCIAL REJECTION; BASAL
GANGLIA; GENE OPRM1; REWARD; BEHAVIOR; MOUSE; CHILDREN; OXYTOCIN
AB The etiology of Autism Spectrum Disorders (ASDs) remains largely unknown. Identifying vulnerability genes for autism represents a major challenge in the field and allows the development of animal models for translational research. Mice lacking the mu opioid receptor gene (Oprm1(-/-)) were recently proposed as a monogenic mouse model of autism, based on severe deficits in social behavior and communication skills. We confirm this hypothesis by showing that adult Oprm1(-/-) animals recapitulate core and multiple comorbid behavioral symptoms of autism and also display anatomical, neurochemical, and genetic landmarks of the disease. Chronic facilitation of mGluR4 signaling, which we identified as a novel pharmacological target in ASDs in these mice, was more efficient in alleviating behavioral deficits than the reference molecule risperidone. Altogether, our data provide first evidence that disrupted mu opioid receptor signaling is sufficient to trigger a comprehensive autistic syndrome, maybe through blunted social reward processes, and this mouse model opens promising avenues for therapeutic innovation.
C1 [Becker, Jerome A. J.; Le Merrer, Julie; Kieffer, Brigitte L.] Univ Strasbourg, CNRS, INSERM,UMR 7104,U 964, Inst Genet & Biol Mol & Cellulaire,Dept Med Trans, Illkirch Graffenstaden, France.
[Clesse, Daniel] CNRS, Inst Neurosci Cellulaires & Integrat, Dept Neurobiol Rythmes, UPR 3212, Strasbourg, France.
[Spiegelhalter, Coralie; Schwab, Yannick] Univ Strasbourg, CNRS, Imaging Ctr,U 964, INSERM,Inst Genet & Biol Mol & Cellulaire,UMR 710, Illkirch Graffenstaden, France.
RP Kieffer, BL (reprint author), Inst Biol Mol & Cellulaire, Dept Neuro Biol & Genet, F-67404 Illkirch Graffenstaden, France.
EM briki@igbmc.fr
FU Centre National de la Recherche Scientifique (CNRS); Institut National
de la Sante et de la Recherche Medicale (INSERM); Universite de
Strasbourg; Fondation Universite de Strasbourg - Pierre Fabre
Laboratories; National Institutes of Health (NIAAA) [16658]; National
Institutes of Health (NIDA) [005010]
FX This work was supported by the Centre National de la Recherche
Scientifique (CNRS), Institut National de la Sante et de la Recherche
Medicale (INSERM), and Universite de Strasbourg. JLM acknowledges
postdoctoral fellowship from the Fondation Universite de Strasbourg,
generously funded by Pierre Fabre Laboratories. We thank the National
Institutes of Health (NIAAA no. 16658 and NIDA no. 005010) for financial
support. The authors declare no conflict of interest.
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NR 69
TC 4
Z9 4
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0893-133X
EI 1740-634X
J9 NEUROPSYCHOPHARMACOL
JI Neuropsychopharmacology
PD AUG
PY 2014
VL 39
IS 9
BP 2049
EP 2060
DI 10.1038/npp.2014.59
PG 12
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AL5ML
UT WOS:000339177800002
PM 24619243
ER
PT J
AU Scheele, D
Kendrick, KM
Khouri, C
Kretzer, E
Schlafer, TE
Stoffel-Wagner, B
Gunturkun, O
Maier, W
Hurlemann, R
AF Scheele, Dirk
Kendrick, Keith M.
Khouri, Christoph
Kretzer, Elisa
Schlaefer, Thomas E.
Stoffel-Wagner, Birgit
Guentuerkuen, Onur
Maier, Wolfgang
Hurlemann, Rene
TI An Oxytocin-Induced Facilitation of Neural and Emotional Responses to
Social Touch Correlates Inversely with Autism Traits
SO NEUROPSYCHOPHARMACOLOGY
LA English
DT Article
ID SPECTRUM DISORDERS; CINGULATE CORTEX; PLASMA OXYTOCIN; INSULAR CORTEX;
REWARD SYSTEM; HUMAN BRAIN; PLEASANT; HUMANS; EXPOSURE; MALES
AB Social communication through touch and mutual grooming can convey highly salient socio-emotional signals and has been shown to involve the neuropeptide oxytocin (OXT) in several species. Less is known about the modulatory influence of OXT on the neural and emotional responses to human interpersonal touch. The present randomized placebo (PLC)-controlled within-subject pharmaco-functional magnetic resonance imaging (fMRI) study was designed to test the hypothesis that a single intranasal dose of synthetic OXT (24 IU) would facilitate both neural and emotional responses to interpersonal touch in a context-(female vs male touch) and trait( autistic trait load) specific manner. Specifically, the experimental rationale was to manipulate the reward value of interpersonal touch independent of the intensity and type of actual cutaneous stimulation administered. Thus, 40 heterosexual males believed that they were touched by either a man or a woman, although in fact an identical pattern of touch was always given by the same female experimenter blind to condition type. Our results show that OXT increased the perceived pleasantness of female, but not male touch, and associated neural responses in insula, precuneus, orbitofrontal, and pregenual anterior cingulate cortex. Moreover, the behavioral and neural effects of OXT were negatively correlated with autistic-like traits. Taken together, this is the first study to show that the perceived hedonic value of human heterosexual interpersonal touch is facilitated by OXT in men, but that its behavioral and neural effects in this context are blunted in individuals with autistic traits.
C1 [Scheele, Dirk; Khouri, Christoph; Kretzer, Elisa; Schlaefer, Thomas E.; Maier, Wolfgang; Hurlemann, Rene] Univ Bonn, Dept Psychiat, D-53105 Bonn, Germany.
[Scheele, Dirk; Khouri, Christoph; Kretzer, Elisa; Hurlemann, Rene] Univ Bonn, Div Med Psychol, D-53105 Bonn, Germany.
[Kendrick, Keith M.] UESTC, Sch Life Sci & Technol, Key Lab Neuroinformat, Chengdu, Peoples R China.
[Schlaefer, Thomas E.] Johns Hopkins Univ, Dept Psychiat, Baltimore, MD USA.
[Schlaefer, Thomas E.] Johns Hopkins Univ, Dept Mental Hlth, Baltimore, MD USA.
[Stoffel-Wagner, Birgit] Univ Bonn, Dept Clin Chem & Clin Pharmacol, D-53105 Bonn, Germany.
[Guentuerkuen, Onur] Ruhr Univ Bochum, Dept Biopsychol, Bochum, Germany.
[Maier, Wolfgang] German Ctr Neurodegenerat Dis DZNE, Bonn, Germany.
RP Hurlemann, R (reprint author), Univ Bonn, Dept Psychiat, Sigmund Freud Str 25, D-53105 Bonn, Germany.
EM renehurlemann@me.com
RI Hurlemann, Rene/G-4164-2012
OI Hurlemann, Rene/0000-0003-2628-565X
FU Ministry of Innovation, Science, Research and Technology of the German
State of North Rhine-Westphalia (MIWFT); University of Bonn; National
Natural Science Foundation of China [91132720]
FX RH was supported by a Starting Independent Researcher Grant
('NEMO-Neuromodulation of Emotion') jointly provided by the Ministry of
Innovation, Science, Research and Technology of the German State of
North Rhine-Westphalia (MIWFT) and the University of Bonn. KMK was
supported by National Natural Science Foundation of China grant
(91132720).
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NR 54
TC 4
Z9 4
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0893-133X
EI 1740-634X
J9 NEUROPSYCHOPHARMACOL
JI Neuropsychopharmacology
PD AUG
PY 2014
VL 39
IS 9
BP 2078
EP 2085
DI 10.1038/npp.2014.78
PG 8
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AL5ML
UT WOS:000339177800005
PM 24694924
ER
PT J
AU Jenkins, A
Apud, JA
Zhang, FY
Decot, H
Weinberger, DR
Law, AJ
AF Jenkins, Aaron
Apud, Jose A.
Zhang, Fengyu
Decot, Heather
Weinberger, Daniel R.
Law, Amanda J.
TI Identification of Candidate Single-Nucleotide Polymorphisms in NRXN1
Related to Antipsychotic Treatment Response in Patients with
Schizophrenia
SO NEUROPSYCHOPHARMACOLOGY
LA English
DT Article
ID COPY NUMBER VARIATIONS; CLOZAPINE RESPONSE; GENETIC-VARIATION; NICOTINE
DEPENDENCE; ALPHA-NEUREXINS; ASSOCIATION; DELETIONS; DISORDERS;
PHARMACOGENETICS; RECEPTORS
AB Neurexins are presynaptic neuronal adhesion molecules that interact with postsynaptic neuroligins to form an inter-synaptic complex required for synaptic specification and efficient neurotransmission. Deletions and point mutations in the neurexin 1 (NRXN1) gene are associated with a broad spectrum of neuropsychiatric and neurodevelopmental disorders, including autism, intellectual disability, epilepsy, developmental delay, and schizophrenia. Recently, small nucleotide polymorphisms in NRXN1 have been associated with antipsychotic drug response in patients with schizophrenia. Based on previous suggestive evidence of an impact on clozapine response in patients with schizophrenia, we conducted an association study of NRXN1 polymorphisms (rs12467557 and rs10490162) with antipsychotic treatment response in 54 patients with schizophrenia in a double blind, placebo-controlled NIMH inpatient crossover trial and examined for association with risk for schizophrenia in independent case-control and family-based clinical cohorts. Pharmacogenetic analysis in the placebo controlled trial revealed significant association of rs12467557and rs10490162 with drug response, whereby individuals homozygous for the A allele, at either SNP, showed significant improvement in positive symptoms, general psychopathology, thought disturbance, and negative symptoms, whereas patients carrying the G allele showed no overall response. Although we did not find evidence of the same NRXN1 SNPs being associated with results of the NIMH sponsored CATIE trial, other SNPs showed weakly positive signals. The family and case-control analyses for schizophrenia risk were negative. Our results provide confirmatory evidence of genetically determined differences in drug response in patients with schizophrenia related to NRXN1 variation. Furthermore, these findings potentially implicate NRXN1 in the therapeutic actions of antipsychotic drugs.
C1 [Jenkins, Aaron; Apud, Jose A.; Decot, Heather] NIMH, Clin Brain Disorders Branch, Genes Cognit & Psychosis Program, NIH, Bethesda, MD 20892 USA.
[Jenkins, Aaron] Univ Kentucky, Coll Med, Lexington, KY USA.
[Zhang, Fengyu; Weinberger, Daniel R.] Johns Hopkins Univ, Lieber Inst Brain Dev, Baltimore, MD USA.
[Weinberger, Daniel R.] Johns Hopkins Sch Med, Dept Psychiat, Baltimore, MD USA.
[Weinberger, Daniel R.] Johns Hopkins Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA.
[Law, Amanda J.] Univ Colorado, Dept Psychiat, Sch Med, Aurora, CO 80045 USA.
[Weinberger, Daniel R.; Law, Amanda J.] Univ Colorado, Dept Cell & Dev Biol, Sch Med, Aurora, CO 80045 USA.
RP Law, AJ (reprint author), Univ Colorado, Dept Psychiat, Sch Med, Mailstop 8344,RC1 North,RM 8101, Aurora, CO 80045 USA.
EM amanda.law@ucdenver.edu
FU Intramural Research Program of the National Institutes of Mental Health,
National Institutes of Health
FX This work was supported by funds from the Intramural Research Program of
the National Institutes of Mental Health, National Institutes of Health.
We thank Bhaskar Kolachana for genotyping of the NIMH samples.
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NR 52
TC 2
Z9 2
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0893-133X
EI 1740-634X
J9 NEUROPSYCHOPHARMACOL
JI Neuropsychopharmacology
PD AUG
PY 2014
VL 39
IS 9
BP 2170
EP 2178
DI 10.1038/npp.2014.65
PG 9
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AL5ML
UT WOS:000339177800014
PM 24633560
ER
PT J
AU Hervas, A
Toma, C
Romaris, P
Ribases, M
Salgado, M
Bayes, M
Balmana, N
Cormand, B
Maristany, M
Guijarro, S
Arranz, MJ
AF Hervas, Amaia
Toma, Claudio
Romaris, Patricia
Ribases, Marta
Salgado, Marta
Bayes, Monica
Balmana, Noemi
Cormand, Bru
Maristany, Marta
Guijarro, Silvina
Arranz, Maria J.
TI The involvement of serotonin polymorphisms in autistic spectrum
symptomatology
SO PSYCHIATRIC GENETICS
LA English
DT Article
DE ASD; cognitive impairment; 5-HT2A; 5-HT2B; 5-HT4; 5-HT6; serotonin
ID 5-HT2A RECEPTOR-BINDING; EPISODIC MEMORY; DISORDERS; ASSOCIATION;
COMMUNICATION; VARIANTS; SYSTEM
AB Background Autism spectrum disorders (ASD) are highly inherited developmental syndromes, resulting from a complex interaction between environmental and genetic factors. To date, only a limited number of genetic variants have been discovered with respect to autism, and their contribution to the development of the disorder has not been clearly determined. Investigation of specific autistic symptomatology may improve the chances of identifying related genes and may help to better understand these disorders.
Materials and methods We investigated the contribution of 80 genetic variants in 15 serotonin genes to ASD phenotypes [intelligence quotation (IQ), intellectual disability (ID) and language onset delay (LD)] in a cohort of 141 children and young adults (121 male patients and 20 female patients, average age 14.5 +/- 5.1 years).
Results Two polymorphisms in the HTR2B gene, rs10194776 and rs16827801, were associated with IQ (P = 0.0004 and 0.003, respectively), ID (P = 0.02 and 0.03) and LD (P = 0.04 and 0.004). Nominal associations were also detected between the ASD phenotypes investigated and 5-HT2A, 5-HT4 and 5-HT6 genetic variants.
Conclusion Our study provides evidence of the contribution of serotonergic variants to IQ, ID and LD in ASD patients. (C) 2014 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.
C1 [Hervas, Amaia; Romaris, Patricia; Salgado, Marta; Balmana, Noemi; Guijarro, Silvina] Univ Barcelona, Dept Child Psychiat, Barcelona 08221, Spain.
[Cormand, Bru; Arranz, Maria J.] Univ Barcelona, Hosp Univ Mutua Terrassa, Fundacio Docencia & Recerca Mutua Terrassa, Barcelona 08221, Spain.
[Toma, Claudio] Univ Barcelona, Dept Genet, Barcelona 08221, Spain.
[Cormand, Bru] IBUB, Barcelona, Spain.
[Toma, Claudio; Cormand, Bru] Vall dHebron Res Inst VHIR, Biomed Network Res Ctr Rare Dis CIBERER, Barcelona, Spain.
[Ribases, Marta] Vall dHebron Res Inst VHIR, Psychiat Genet Unit, Barcelona, Spain.
[Bayes, Monica] Hosp St Joan de Deu, CNAG, Barcelona, Spain.
[Maristany, Marta] Hosp St Joan de Deu, Dept Psychiat, Barcelona, Spain.
[Arranz, Maria J.] Hosp Santa Creu & Sant Pau, Dept Psychiat, Barcelona, Spain.
[Arranz, Maria J.] Kings Coll London, Inst Psychiat, Dept Neurosci, London WC2R 2LS, England.
RP Arranz, MJ (reprint author), Univ Barcelona, Hosp Univ Mutua Terrassa, Fundacio Docencia & Recerca Mutua Terrassa, C St Antoni 19, Barcelona 08221, Spain.
EM maria.arranz@kcl.ac.uk
RI Toma, Claudio/L-7853-2014
OI Toma, Claudio/0000-0003-3901-7507
FU Instituto de Salud Carlos III, Spain; European Union
[PIEF-GA-2009-254930]; Fundacio La Marato de TV3 [092010]; Fundacion
Alicia Koplowitz; Minsterio de Economia y Competitividad, Spain
[SAF2012-33484]; Agencia de Gestio d'Ajuts Universitaris i de
Recerca-AGAUR [2009SGR00971]
FX M.R. is a recipient of a Miguel de Servet contract from 'Instituto de
Salud Carlos III, Spain' and C.T. was supported by the European Union
(Marie Curie, PIEF-GA-2009-254930). Financial support was received from
'Fundacio La Marato de TV3' (092010), 'Fundacion Alicia Koplowitz',
'Minsterio de Economia y Competitividad, Spain' (SAF2012-33484) and
'Agencia de Gestio d'Ajuts Universitaris i de Recerca-AGAUR'
(2009SGR00971).
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NR 26
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0955-8829
EI 1473-5873
J9 PSYCHIAT GENET
JI Psychiatr. Genet.
PD AUG
PY 2014
VL 24
IS 4
BP 158
EP 163
DI 10.1097/YPG.0000000000000034
PG 6
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AL2BM
UT WOS:000338930800003
PM 24887447
ER
PT J
AU Baghdadli, A
Pry, R
Michelon, C
Rattaz, C
AF Baghdadli, Amaria
Pry, Rene
Michelon, Cecile
Rattaz, Cecile
TI Impact of autism in adolescents on parental quality of life
SO QUALITY OF LIFE RESEARCH
LA English
DT Article
DE Parental quality of life; Autism spectrum disorders; Risk factors;
Adolescents; Cohort
ID INTELLECTUAL DISABILITIES; SPECTRUM DISORDERS; CHILDREN; STRESS;
INTERVENTION; CAREGIVERS; PROGRAM; DISEASE; ADULTS; AGE
AB To study the impact of autism spectrum disorders (ASDs) on parental quality of life (QoL) at adolescence using the parental-developmental disorders-quality of life scale (Par-DD-QoL).
One hundred and fifty-two mothers of adolescents with ASD completed Par-DD-QoL. This scale assesses the following dimensions: emotional, daily disturbance and global QoL. This cross-sectional study uses a subset of data collected at the final time of a follow-up study (EpiTED cohort).
A polytomic regression identified an increase in aberrant behavior scores as the major independent risk factor for parental QoL. The identified protective factors were the increase in daily living, communication and object cognition scores and a higher number of siblings.
Those results suggest that there is a negative effect of externalizing behaviors and a protective effect of adaptive skills, communication and object cognition on parental QoL. Study limitations and implications are discussed.
C1 [Baghdadli, Amaria; Pry, Rene; Michelon, Cecile; Rattaz, Cecile] CHRU Montpellier, Ctr Ressources Autisme, F-34295 Montpellier 05, France.
[Baghdadli, Amaria; Pry, Rene; Michelon, Cecile; Rattaz, Cecile] Univ Montpellier, EA 4556, Lab Epsylon, F-34000 Montpellier, France.
RP Baghdadli, A (reprint author), CHRU Montpellier, Ctr Ressources Autisme, 39 Ave Charles Flahaut, F-34295 Montpellier 05, France.
EM cent-ress-autisme@chu-montpellier.fr
FU Orange Foundation; PHRC
FX This study was supported by a grant from the Orange Foundation and the
PHRC 1997 and 2007. We are extremely grateful to all the teenagers and
their families who took part in this study, and the whole EpiTED Team.
CR Allik H, 2006, HEALTH QUAL LIFE OUT, V4, DOI 10.1186/1477-7525-4-1
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NR 47
TC 1
Z9 1
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0962-9343
EI 1573-2649
J9 QUAL LIFE RES
JI Qual. Life Res.
PD AUG
PY 2014
VL 23
IS 6
BP 1859
EP 1868
DI 10.1007/s11136-014-0635-6
PG 10
WC Health Care Sciences & Services; Health Policy & Services; Public,
Environmental & Occupational Health
SC Health Care Sciences & Services; Public, Environmental & Occupational
Health
GA AL6YU
UT WOS:000339280700019
PM 24504623
ER
PT J
AU Domellof, E
Hedlund, L
Odman, P
AF Domellof, Erik
Hedlund, Ludmilla
Odman, Pia
TI Health-related quality of life of children and adolescents with
functional disabilities in a northern Swedish county
SO QUALITY OF LIFE RESEARCH
LA English
DT Article
DE Children; Disability; Health-related quality of life; EQ-5D-Y
ID CEREBRAL-PALSY; EQ-5D; DETERMINANTS
AB Health-related quality of life (HRQoL) studies in children and adolescents with disabilities tend to report lower self-reported health than in the typical population. However, reports are not always consistent and HRQoL appears to vary depending on diagnosis, cultural setting and clinical context. The aim of this study was to explore HRQoL in children and adolescents with various disabilities in Vasterbotten County, Sweden.
A total of 175 children and adolescents [57 girls, 118 boys; mean age 11.7 years (range 7-17 years)] divided into four different diagnostic groups (intellectual disabilities, autism spectrum disorders, movement disorders and hearing disabilities) participated in the study. The EuroQol Five Dimensions Health Questionnaire, Youth version (EQ-5D-Y) was used as HRQoL measure.
Significant differences in various EQ-5D-Y dimensions between the different diagnostic groups were found, but no differences in overall health status. HRQoL in children and adolescents with hearing disabilities was found similar to the typical child population in Sweden whereas children and adolescents with other diagnoses reported evidently more problems.
Findings suggest that there is an increased risk for children with functional disabilities other than hearing disabilities in northern Sweden to experience difficulties in various health domains and lowered general health.
C1 [Domellof, Erik; Hedlund, Ludmilla] Umea Univ, Dept Psychol, S-90187 Umea, Sweden.
[Domellof, Erik] Kolbacken Child Rehabil Ctr, Umea, Sweden.
[Odman, Pia] Linkoping Univ, Dept Med & Hlth Sci, Linkoping, Sweden.
RP Domellof, E (reprint author), Umea Univ, Dept Psychol, S-90187 Umea, Sweden.
EM erik.domellof@psy.umu.se
FU Umea University
FX This study was supported by a young researcher award from Umea
University to the first author. We thank the children and their families
for participating.
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NR 22
TC 1
Z9 1
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0962-9343
EI 1573-2649
J9 QUAL LIFE RES
JI Qual. Life Res.
PD AUG
PY 2014
VL 23
IS 6
BP 1877
EP 1882
DI 10.1007/s11136-013-0613-4
PG 6
WC Health Care Sciences & Services; Health Policy & Services; Public,
Environmental & Occupational Health
SC Health Care Sciences & Services; Public, Environmental & Occupational
Health
GA AL6YU
UT WOS:000339280700021
PM 24379137
ER
PT J
AU Schaafsma, SM
Pfaff, DW
AF Schaafsma, Sara M.
Pfaff, Donald W.
TI Etiologies underlying sex differences in Autism Spectrum Disorders
SO FRONTIERS IN NEUROENDOCRINOLOGY
LA English
DT Review
DE Autism Spectrum Disorder; Sex differences; Increased male incidence; Sex
chromosome; Genomic imprinting; X-inactivation; Testosterone; Prenatal
stress; Maternal immune activation; Gene-environment interaction
ID X-CHROMOSOME-INACTIVATION; LINKED MENTAL-RETARDATION;
ESTROGEN-RECEPTOR-ALPHA; CONGENITAL ADRENAL-HYPERPLASIA;
HIGH-FUNCTIONING AUTISM; FRONTOTEMPORAL LOBAR DEGENERATION; PERVASIVE
DEVELOPMENTAL DISORDERS; DEFICIT HYPERACTIVITY DISORDER; ADAPTIVE
IMMUNE-RESPONSES; HUMAN Y-CHROMOSOME
AB The male predominance of Autism Spectrum Disorders (ASD) is one of the best-known, and at the same time, one of the least understood characteristics of these disorders. In this paper we review genetic, epigenetic, hormonal, and environmental mechanisms underlying this male preponderance. Sex-specific effects of Y-linked genes (including SRY expression leading to testicular development), balanced and skewed X-inactivation, genes that escape X-inactivation, parent-of-origin allelic imprinting, and the hypothetical heterochromatin sink are reviewed. These mechanisms likely contribute to etiology, instead of being simply causative to ASD. Environments, both internal and external, also play important roles in ASD's etiology. Early exposure to androgenic hormones and early maternal immune activation comprise environmental factors affecting sex-specific susceptibility to ASD. The gene-environment interactions underlying ASD, suggested here, implicate early prenatal stress as being especially detrimental to boys with a vulnerable genotype. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Schaafsma, Sara M.; Pfaff, Donald W.] Rockefeller Univ, Neurobiol & Behav Lab, New York, NY 10065 USA.
RP Schaafsma, SM (reprint author), Rockefeller Univ, Neurobiol & Behav Lab, 1230 York Ave, New York, NY 10065 USA.
EM Sschaafsma@rockefeller.edu
RI Schaafsma, Sara/J-8192-2014
OI Schaafsma, Sara/0000-0003-0476-7877
FU Simons Foundation [230933]; Autism Science Foundation [13-1002]
FX Professor of Pediatric Neurology Emerita Isabelle Rapin, M.D. has guided
our thinking and writing in this effort. Two anonymous reviewers have
provided comprehensive and instructive comments. Related experimental
work by the authors has been supported by the Simons Foundation (#230933
to DWP) and by the Autism Science Foundation (#13-1002 to SMS).
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NR 263
TC 8
Z9 9
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0091-3022
EI 1095-6808
J9 FRONT NEUROENDOCRIN
JI Front. Neuroendocrinol.
PD AUG
PY 2014
VL 35
IS 3
SI SI
BP 255
EP 271
DI 10.1016/j.yfrne.2014.03.006
PG 17
WC Endocrinology & Metabolism; Neurosciences
SC Endocrinology & Metabolism; Neurosciences & Neurology
GA AL2UC
UT WOS:000338980000002
PM 24705124
ER
PT J
AU Davies, W
AF Davies, William
TI Sex differences in Attention Deficit Hyperactivity Disorder: Candidate
genetic and endocrine mechanisms
SO FRONTIERS IN NEUROENDOCRINOLOGY
LA English
DT Review
DE Autism; Basal ganglia; Imprinted gene; Mouse; Rat; Sex chromosome; Sry;
Steroid sulfatase; Testosterone; Thalamus
ID SEROTONIN 2C RECEPTOR; STEROID SULFATASE DEFICIENCY; ORIGIN ALLELIC
EXPRESSION; AUTISM SPECTRUM DISORDER; MESSENGER-RNA EXPRESSION;
GENOME-WIDE ASSOCIATION; HAN CHINESE SUBJECTS; MONOAMINE-OXIDASE-A;
X-LINKED ICHTHYOSIS; FINGER LENGTH RATIO
AB Attention Deficit Hyperactivity Disorder (ADHD) is a developmental condition characterised by severe inattention, pathological impulsivity and hyperactivity; it is relatively common affecting up to 6% of children, and is associated with a risk of long-term adverse educational and social consequences. Males are considerably more likely to be diagnosed with ADHD than females; the course of the disorder and its associated co-morbidities also appear to be sensitive to sex. Here, I discuss fundamental biological (genetic and endocrine) mechanisms that have been shown to, or could theoretically, contribute towards these sexually dimorphic phenomena. Greater understanding of how and why the sexes differ with respect to ADHD vulnerability should allow us to identify and characterise novel protective and risk factors for the disorder, and should ultimately facilitate improved diagnosis, prognosis and treatment. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Davies, William] Cardiff Univ, Sch Psychol, Neurosci & Mental Hlth Res Inst, Behav Genet Grp, Cardiff CF10 3AT, S Glam, Wales.
[Davies, William] Cardiff Univ, Sch Med, Cardiff CF10 3AT, S Glam, Wales.
[Davies, William] Cardiff Univ, MRC, Ctr Neuropsychiat Genet & Genom, Cardiff CF24 4HQ, S Glam, Wales.
RP Davies, W (reprint author), Cardiff Univ, Sch Psychol, Tower Bldg,Pk Pl, Cardiff CF10 3AT, S Glam, Wales.
EM daviesw4@cardiff.ac.uk
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ZHANG Y, 2013, MOL BIOL EVOL
Zheng ZG, 2011, P NATL ACAD SCI USA, V108, P16289, DOI 10.1073/pnas.1108312108
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NR 262
TC 3
Z9 3
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0091-3022
EI 1095-6808
J9 FRONT NEUROENDOCRIN
JI Front. Neuroendocrinol.
PD AUG
PY 2014
VL 35
IS 3
SI SI
BP 331
EP 346
DI 10.1016/j.yfrne.2014.03.003
PG 16
WC Endocrinology & Metabolism; Neurosciences
SC Endocrinology & Metabolism; Neurosciences & Neurology
GA AL2UC
UT WOS:000338980000007
PM 24680800
ER
PT J
AU Poslawsky, IE
Naber, FBA
Bakermans-Kranenburg, MJ
De Jonge, MV
Van Engeland, H
Van IJzendoorn, MH
AF Poslawsky, Irina E.
Naber, Fabienne B. A.
Bakermans-Kranenburg, Marian J.
De Jonge, Maretha V.
Van Engeland, Herman
Van IJzendoorn, Marinus H.
TI Development of a Video-feedback Intervention to promote Positive
Parenting for Children with Autism (VIPP-AUTI)
SO ATTACHMENT & HUMAN DEVELOPMENT
LA English
DT Article
DE autism; sensitive parenting; parent-child interaction; early
intervention; video-feedback
ID SPECTRUM DISORDER; JOINT ATTENTION; MENTAL-RETARDATION; YOUNG-CHILDREN;
REPETITIVE BEHAVIOR; TYPICAL DEVELOPMENT; PRESCHOOL-CHILDREN;
ATTACHMENT; PREVALENCE; COMMUNICATION
AB In this paper we describe the development and content of Video-feedback Intervention to promote Positive Parenting for Children with Autism (VIPP-AUTI). VIPP-AUTI is an adapted version of the evidence-based intervention VIPP. The lack of social responsiveness in children with autism often lowers the quality of the parent-child interaction. A wide range of early interventions exist to cope with the disorder. The majority of early interventions for children with autism focus on their deficits of (social) skills, but the number of evidence-based interventions to improve early parent-child interaction patterns is limited. The aim of VIPP-AUTI is to enhance parental sensitivity to children's autistic characteristics, in order to improve child developmental outcome by increased parental support.
C1 [Poslawsky, Irina E.; De Jonge, Maretha V.; Van Engeland, Herman] Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Div Neurosci, Utrecht, Netherlands.
[Naber, Fabienne B. A.; Bakermans-Kranenburg, Marian J.; Van IJzendoorn, Marinus H.] Leiden Univ, Ctr Child & Family Studies, Leiden, Netherlands.
[Naber, Fabienne B. A.] Erasmus Univ, Sch Pedag & Educ Sci, Rotterdam, Netherlands.
RP Poslawsky, IE (reprint author), Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Div Neurosci, Utrecht, Netherlands.
EM I.E.Uitewaal@umcutrecht.nl
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 62
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1461-6734
EI 1469-2988
J9 ATTACH HUM DEV
JI Attach. Hum. Dev.
PD AUG
PY 2014
VL 16
IS 4
SI SI
BP 343
EP 355
DI 10.1080/14616734.2014.912487
PG 13
WC Psychology, Developmental
SC Psychology
GA AK9CS
UT WOS:000338725700004
PM 24972103
ER
PT J
AU Miyachi, T
Nakai, A
Tani, I
Ohnishi, M
Nakajima, S
Tsuchiya, KJ
Matsumoto, K
Tsujii, M
AF Miyachi, Taishi
Nakai, Akio
Tani, Iori
Ohnishi, Masafumi
Nakajima, Shunji
Tsuchiya, Kenji J.
Matsumoto, Kaori
Tsujii, Masatsugu
TI Evaluation of Motor Coordination in Boys with High-Functioning Pervasive
Developmental Disorder Using the Japanese Version of the Developmental
Coordination Disorder Questionnaire
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE High-functioning pervasive developmental disorder (HFPDD); Developmental
coordination disorder (DCD); Developmental coordination disorder
questionnaire (DCDQ); Motor coordination dysfunction; Autism diagnostic
interview-revised (ADI-R); Questionnaire
ID AUTISM SPECTRUM DISORDERS; ASPERGER-SYNDROME; DIAGNOSTIC INTERVIEW;
CHILDREN; CLUMSINESS; METAANALYSIS; IMPAIRMENTS; ADOLESCENTS;
PERCEPTIONS; RELIABILITY
AB Children with high-functioning pervasive developmental disorder (HFPDD) often have motor coordination dysfunction. However, there is no assessment tool for screening developmental coordination disorder (DCD) in Japan, which makes it difficult to evaluate the actual motor impairments of children with HFPDD. We evaluated the motor coordination function of 54 school-age boys with HFPDD using the Japanese version of the Developmental Coordination Disorder Questionnaire (DCDQ-J). We subsequently assessed the relationship between DCDQ-J scores and the results of the Japanese version of the Autism Diagnostic Interview-Revised (ADI-R) of 48 boys. The total and subscale DCDQ-J scores of the boys with HFPDD were significantly lower than the population means in the same grade: 37.0 % were below 2 standard deviations for the total score, 38.9 % for control during movement, 26.0 % for fine motor/handwriting, and 37.0 % for general coordination. Furthermore, the scores of Qualitative Abnormalities in Communication in the ADI-R were negatively correlated with control during movement, fine motor/handwriting, and total scores in the DCDQ-J. This study is the first to show Japanese children with HFPDD frequently exhibit considerably poor motor coordination according to the DCDQ-J. The screening or assessment of motor dysfunction in HFPDD using assessment tools such as the DCDQ could aid the development of interventions for these underestimated problems in Japan.
C1 [Miyachi, Taishi] Nagoya Cent Rehabil Ctr, Dept Pediat, Nagoya, Aichi, Japan.
[Nakai, Akio] Hyogo Childrens Sleep & Dev Med Res Ctr, Nishi Ku, Kobe, Hyogo 6512181, Japan.
[Tani, Iori] Tokai Gakuen Univ, Sch Humanities, Nagoya, Aichi, Japan.
[Ohnishi, Masafumi] Univ Fukui, Fac Educ & Reg Studies, Fukui 910, Japan.
[Nakajima, Shunji; Tsuchiya, Kenji J.; Matsumoto, Kaori] Hamamatsu Univ Sch Med, Res Ctr Child Mental Dev, Hamamatsu, Shizuoka 4313192, Japan.
[Tsujii, Masatsugu] Chukyo Univ, Sch Contemporary Sociol, Nagoya, Aichi, Japan.
RP Nakai, A (reprint author), Hyogo Childrens Sleep & Dev Med Res Ctr, Nishi Ku, Akebono Cho 1070, Kobe, Hyogo 6512181, Japan.
EM anakai.kodomo@gmail.com
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NR 36
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD AUG
PY 2014
VL 26
IS 4
BP 403
EP 413
DI 10.1007/s10882-014-9377-1
PG 11
WC Rehabilitation
SC Rehabilitation
GA AK9XZ
UT WOS:000338783200003
ER
PT J
AU Meadan, H
Stoner, JB
Angell, ME
Daczewitz, ME
Cheema, J
Rugutt, JK
AF Meadan, Hedda
Stoner, Julia B.
Angell, Maureen E.
Daczewitz, Marcus E.
Cheema, Jehanzeb
Rugutt, John K.
TI Do You See a Difference? Evaluating Outcomes of a Parent-Implemented
Intervention
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Social validity; Social-communication skills; Parent-implemented
intervention
ID SOCIAL VALIDITY; BEHAVIOR; CHILDREN; VALIDATION; LANGUAGE; AUTISM
AB The Parent-Implemented Communication Strategies (PiCS) project resulted in the development of an intervention package aimed at enhancing the social communication skills of young children with disabilities and limited expressive language. While the outcomes of the PiCS project seem to be positive, a thorough and comprehensive assessment of social validity was warranted. Wolf (Journal of Applied Behavior Analysis, 11, 203-214, 1978) contended that interventions should be assessed not only for effectiveness but also for social validity. This study of social validity addressed the question, "Was the PiCS project socially valid from an expert perspective?" Our expert evaluators were recruited from three groups: (a) parents of young children with disabilities, (b) early childhood special education teachers, and (c) speech language pathologists who worked with young children with disabilities. Each evaluator viewed video clips of parent-child interactions from pre- and post-intervention sessions, in random order, and completed a questionnaire about parent and child behaviors. The overall findings provided support for the social validity of the PiCS project. Further discussion that examines differences in the ratings of the groups of evaluators and implications for research and practice is provided.
C1 [Meadan, Hedda] Univ Illinois, Dept Special Educ, Champaign, IL 61820 USA.
[Stoner, Julia B.; Angell, Maureen E.; Daczewitz, Marcus E.] Illinois State Univ, Dept Special Educ, Normal, IL 61790 USA.
[Cheema, Jehanzeb] Univ Illinois, Bur Educ Res, Champaign, IL 61820 USA.
[Rugutt, John K.] Illinois State Univ, Dept Educ Adm & Fdn, Normal, IL 61790 USA.
RP Meadan, H (reprint author), Univ Illinois, Dept Special Educ, 1310 S Sixth St, Champaign, IL 61820 USA.
EM meadan@illinois.edu; jbstone@ilstu.edu; meangel@ilstu.edu;
mdaczewitz@gmail.com; jrcheema@illinois.edu; jkrugut@ilstu.edu
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NR 21
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD AUG
PY 2014
VL 26
IS 4
BP 415
EP 430
DI 10.1007/s10882-014-9376-2
PG 16
WC Rehabilitation
SC Rehabilitation
GA AK9XZ
UT WOS:000338783200004
ER
PT J
AU Berquist, KL
Charlop, MH
AF Berquist, Kari L.
Charlop, Marjorie H.
TI Teaching Parents of Children with Autism to Evaluate Interventions
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Evaluation; Autism; Parent education; Empirically validated
interventions; Complementary and alternative interventions; Evidenced
based practices
ID SPECTRUM DISORDERS; ALTERNATIVE MEDICINE; YOUNG-CHILDREN; COMPLEMENTARY;
STRESS; PERCEPTIONS; DIAGNOSIS; EDUCATION; FAMILIES; SPEECH
AB Children with autism are participating in a variety of interventions that are believed to be effective by their parents; however, a majority of these interventions are not empirically supported. In this study, we assessed the efficacy of a parent education program to teach parents of children with autism to evaluate their child's interventions. Parents' acquisition, generalization, and maintenance of evaluation behaviors were examined. Additionally, we looked at parents' understanding of information regarding evaluating interventions and decision-making patterns regarding treatments in comparison to controls. A multiple baseline design across parent participants was used to assess parents' evaluation skills. After completion of a parent education program, parents increased in their evaluative behaviors relative to individual baseline measures. In addition, parents in the experimental group increased their understanding of information regarding evaluating interventions and empirically based decisions regarding treatments in comparison to controls.
C1 [Berquist, Kari L.] Claremont Grad Univ, Div Behav & Org Sci, Claremont, CA USA.
[Charlop, Marjorie H.] Claremont Mckenna Coll, Dept Psychol, Claremont, CA 91711 USA.
[Berquist, Kari L.] Stanford Univ, Med Ctr, Lucile Packard Childrens Hosp Stanford, Stanford, CA 94305 USA.
RP Berquist, KL (reprint author), Stanford Univ, Med Ctr, Lucile Packard Childrens Hosp Stanford, 401 Quarry Rd, Stanford, CA 94305 USA.
EM kbe@stanford.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Baden H. P., 2000, PEDIATRICS, V105, P1, DOI 10.1542/peds.105.2.e18
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NR 63
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD AUG
PY 2014
VL 26
IS 4
BP 451
EP 472
DI 10.1007/s10882-014-9374-4
PG 22
WC Rehabilitation
SC Rehabilitation
GA AK9XZ
UT WOS:000338783200006
ER
PT J
AU McCahill, J
Healy, O
Lydon, S
Ramey, D
AF McCahill, John
Healy, Olive
Lydon, Sinead
Ramey, Devon
TI Training Educational Staff in Functional Behavioral Assessment: A
Systematic Review
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Review
DE Functional behavioral assessment; Functional analysis; Staff training;
Teacher training; Challenging behavior
ID SINGLE-SUBJECT RESEARCH; DEVELOPMENTAL-DISABILITIES; ANALYSIS
METHODOLOGY; CHALLENGING BEHAVIORS; INTERVENTION; TEACHERS; ACQUISITION;
SETTINGS; CHILDREN; AUTISM
AB Interventions for challenging behavior are more likely to be effective when based on the results of a functional behavioral assessment. Research to date suggests that staff members in educational settings may not have the requisite levels of expertise or support to implement behavioral assessment procedures and design corresponding behavior support plans. The current review sought to examine the nature and effectiveness of Functional Behavioral Assessment (FBA) training described in the literature. Twenty-five studies were examined in relation to type of FBA method used, training procedure, behavioral function and intervention outcome. Training was provided in indirect, observational and experimental functional assessment procedures. Video modeling, lectures, feedback and written protocols were some commonly used training procedures. Interventions derived from results of these assessments were used in twelve studies to treat problem behavior. Social validity and treatment integrity outcomes across all studies are reported. The implications of these findings for research and practice are discussed along with directions for future research.
C1 [McCahill, John; Healy, Olive; Lydon, Sinead] Univ Dublin Trinity Coll, Dublin 2, Ireland.
[Ramey, Devon] SW Texas State Univ, San Marcos, TX 78666 USA.
RP Healy, O (reprint author), Univ Dublin Trinity Coll, Dublin 2, Ireland.
EM olive.healy@tcd.ie
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NR 66
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD AUG
PY 2014
VL 26
IS 4
BP 479
EP 505
DI 10.1007/s10882-014-9378-0
PG 27
WC Rehabilitation
SC Rehabilitation
GA AK9XZ
UT WOS:000338783200008
ER
PT J
AU Cevikaslan, A
Evans, DW
Dedeoglu, C
Kalaca, S
Yazgan, Y
AF Cevikaslan, Ahmet
Evans, David W.
Dedeoglu, Ceyda
Kalaca, Sibel
Yazgan, Yanki
TI A Cross-Sectional Survey of Repetitive Behaviors and Restricted
Interests in A Typically Developing Turkish Child Population
SO CHILD PSYCHIATRY & HUMAN DEVELOPMENT
LA English
DT Article
DE Compulsive-like behavior; Ritualistic behavior; Repetitive behavior;
Restricted interest; Childhood Routines Inventory
ID OBSESSIVE-COMPULSIVE DISORDER; AUTISM SPECTRUM DISORDERS;
YOUNG-CHILDREN; RITUALS; SYMPTOMS; INFANTS; ASSOCIATION; INSIGHTS;
PHOBIAS; NUMBER
AB This study examined compulsive-like behaviors (CLBs) which are higher-order types of Repetitive Behaviors And Restricted Interests (RBRIs) in typically developing children in Turkey. Caregivers of 1,204 children between 8 and 72 months were interviewed with Childhood Routines Inventory (CRI) by trained interviewers in a cross-sectional survey. Factor analysis of the CRI revealed two factor structures comprising "just right behaviors" and "repetitive/sensory sensitivity behaviors". CLB frequency peaked at 2-4 years with declines after age four. In contrast to the previous CRI studies reporting no gender difference, CLBs were more common in males in 12-23 and 48-59 month age groups on both total CLB frequency and repetitive/sensory sensitivity behaviors. Also ages of onsets for CRI items were somewhat later than reported in other samples. Our findings supported the findings of the previous CRI studies while also revealing new perspectives in need of further investigation.
C1 [Cevikaslan, Ahmet; Yazgan, Yanki] Marmara Univ, Sch Med, Child & Adolescent Psychiat Dept, Istanbul, Turkey.
[Evans, David W.] Bucknell Univ, Dept Psychol, Lewisburg, PA 17837 USA.
[Evans, David W.] Geisinger Bucknell Autism & Dev Med Ctr, Lewisburg, PA USA.
[Dedeoglu, Ceyda] Bogazici Univ, Dept Psychol, Istanbul, Turkey.
[Kalaca, Sibel] Marmara Univ, Sch Med, Prevent Med & Publ Hlth Dept, Istanbul, Turkey.
[Yazgan, Yanki] Yale Univ, Sch Med, Yale Child Study Ctr, New Haven, CT USA.
RP Yazgan, Y (reprint author), Marmara Univ, Sch Med, Child & Adolescent Psychiat Dept, Gullu Sokak,4,Ic Levent, Istanbul, Turkey.
EM yanki.yazgan@gmail.com
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NR 56
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0009-398X
EI 1573-3327
J9 CHILD PSYCHIAT HUM D
JI Child Psychiat. Hum. Dev.
PD AUG
PY 2014
VL 45
IS 4
BP 472
EP 482
DI 10.1007/s10578-013-0417-3
PG 11
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AK3KU
UT WOS:000338323400010
PM 24242356
ER
PT J
AU McDonald, CA
Volker, MA
Lopata, C
Toomey, JA
Thomeer, ML
Lee, GK
Lipinski, AM
Dua, EH
Schiavo, AM
Bain, F
Nelson, AT
AF McDonald, Christin A.
Volker, Martin A.
Lopata, Christopher
Toomey, Jennifer A.
Thomeer, Marcus L.
Lee, Gloria K.
Lipinski, Alanna M.
Dua, Elissa H.
Schiavo, Audrey M.
Bain, Fabienne
Nelson, Andrew T.
TI VMI-VI and BG-II KOPPITZ-2 for Youth With HFASDs and Typical Youth
SO JOURNAL OF PSYCHOEDUCATIONAL ASSESSMENT
LA English
DT Article
DE motor skills; visual-motor; Bender-Gestalt-II; KOPPITZ-2; Developmental
Test of Visual-Motor Integration-6th ed.; high-functioning autism
spectrum disorders
ID BENDER-GESTALT-II; MOTOR; CHILDREN; PERFORMANCE; ADJUSTMENT
AB The visual-motor skills of 90 youth with high-functioning autism spectrum disorders (HFASDs) and 51 typically developing (TD) youth were assessed using the Beery-Buktenica Developmental Test of Visual-Motor Integration, Sixth Edition (VMI-VI) and Koppitz Developmental Scoring System for the Bender-Gestalt Test-Second Edition (KOPPITZ-2). Within-group comparisons (for both samples) yielded substantive mean differences between the KOPPITZ-2 composite and VMI-VI composite, Visual Perception and Motor Coordination sections of the VMI-VI, and VMI-VI composite and either VMI-VI supplemental tests. Between-group differences were assessed in a matched subsample of 33 participants from each group. The HFASD group scored significantly lower than the TD group on test sections requiring greater motor ability (i.e., VMI-VI composite, VMI-VI Motor Coordination, KOPPITZ-2 composite, and Bender-Gestalt Visual-Motor Test-Second Edition [BG-II]). Correlations between the KOPPITZ-2 composite and VMI-VI composite were .56 for the HFASD and .36 for the TD samples.
C1 [McDonald, Christin A.] Nationwide Childrens Hosp, Columbus, OH USA.
[Volker, Martin A.; Lee, Gloria K.; Lipinski, Alanna M.; Dua, Elissa H.; Bain, Fabienne; Nelson, Andrew T.] SUNY Buffalo, Buffalo, NY 14260 USA.
[Lopata, Christopher; Thomeer, Marcus L.] Canisius Coll, Buffalo, NY 14208 USA.
[Toomey, Jennifer A.; Schiavo, Audrey M.] Summit Educ Resources, Getzville, NY USA.
RP McDonald, CA (reprint author), Nationwide Childrens Hosp, Ctr Autism Spectrum Disorders, 187 W Schrock Rd, Westerville, OH 43081 USA.
EM Christin.Mcdonald@nationwidechildrens.org
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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Beery K, 2010, BEERY BUKTENICA DEV
Brannigan G. G., 2003, BENDER VISUAL MOTOR
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NR 18
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0734-2829
EI 1557-5144
J9 J PSYCHOEDUC ASSESS
JI J. Psychoeduc. Assess.
PD AUG
PY 2014
VL 32
IS 5
BP 379
EP 389
DI 10.1177/0734282913514351
PG 11
WC Psychology, Educational
SC Psychology
GA AK1OY
UT WOS:000338185600001
ER
PT J
AU Foti, F
Mazzone, L
Menghini, D
De Peppo, L
Federico, F
Postorino, V
Baumgartner, E
Valeri, G
Petrosini, L
Vicari, S
AF Foti, F.
Mazzone, L.
Menghini, D.
De Peppo, L.
Federico, F.
Postorino, V.
Baumgartner, E.
Valeri, G.
Petrosini, L.
Vicari, S.
TI Learning by observation in children with autism spectrum disorder
SO PSYCHOLOGICAL MEDICINE
LA English
DT Article
DE Autism spectrum disorder; imitation; observational learning; sequential
learning
ID MIRROR-NEURON SYSTEM; WORKING-MEMORY; IMITATION IMPAIRMENTS; REPETITIVE
BEHAVIOR; COGNITIVE CONTROL; SOCIAL COGNITION; BASAL GANGLIA; MOTOR;
DYSFUNCTION; FMRI
AB Background. Observing another person performing a complex action accelerates the observer's acquisition of the same action and limits the time-consuming process of learning by trial and error. Learning by observation requires specific skills such as attending, imitating and understanding contingencies. Individuals with autism spectrum disorder (ASD) exhibit deficits in these skills.
Method. The performance of 20 ASD children was compared with that of a group of typically developing (TD) children matched for chronological age (CA), IQ and gender on tasks of learning of a visuomotor sequence by observation or by trial and error. Acquiring the correct sequence involved three phases: a detection phase (DP), in which participants discovered the correct sequence and learned how to perform the task; an exercise phase (EP), in which they reproduced the sequence until performance was error free; and an automatization phase (AP), in which by repeating the error-free sequence they became accurate and speedy.
Results. In the DP, ASD children were impaired in detecting a sequence by trial and error only when the task was proposed as first, whereas they were as efficient as TD children in detecting a sequence by observation. In the EP, ASD children were as efficient as TD children. In the AP, ASD children were impaired in automatizing the sequence. Although the positive effect of learning by observation was evident, ASD children made a high number of imitative errors, indicating marked tendencies to hyperimitate.
Conclusions. These findings demonstrate the imitative abilities of ASD children although the presence of imitative errors indicates an impairment in the control of imitative behaviours.
C1 [Foti, F.; Petrosini, L.] Univ Roma La Sapienza, Dept Psychol, I-00185 Rome, Italy.
[Foti, F.; Petrosini, L.] IRCCS Fdn Santa Lucia, Rome, Italy.
[Mazzone, L.; Menghini, D.; De Peppo, L.; Postorino, V.; Valeri, G.; Vicari, S.] Bambino Gesu Pediat Hosp, Child Neuropsychiat Unit, Dept Neurosci, Rome, Italy.
[Federico, F.; Baumgartner, E.] Univ Roma La Sapienza, Dept Dev & Social Psychol, I-00185 Rome, Italy.
RP Foti, F (reprint author), Univ Roma La Sapienza, Dept Psychol, Via Marsi 78, I-00185 Rome, Italy.
EM francesca.foti@uniroma1.it
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NR 89
TC 0
Z9 0
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0033-2917
EI 1469-8978
J9 PSYCHOL MED
JI Psychol. Med.
PD AUG
PY 2014
VL 44
IS 11
BP 2437
EP 2447
DI 10.1017/S003329171300322X
PG 11
WC Psychology, Clinical; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AK1TL
UT WOS:000338199200018
ER
PT J
AU Hollocks, MJ
Howlin, P
Papadopoulos, AS
Khondoker, M
Simonoff, E
AF Hollocks, Matthew J.
Howlin, Patricia
Papadopoulos, Andrew S.
Khondoker, Mizanur
Simonoff, Emily
TI Differences in HPA-axis and heart rate responsiveness to psychosocial
stress in children with autism spectrum disorders with and without
co-morbid anxiety
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Article
DE Autistic disorder; Cortisol; Developmental disorders; Emotion; Mood
disorders
ID SALIVARY CORTISOL-LEVELS; PERVASIVE DEVELOPMENTAL DISORDERS;
SCHOOL-AGE-CHILDREN; SOCIAL PHOBIA; PSYCHIATRIC-DISORDERS; AUTONOMIC
FLEXIBILITY; REACTIVITY; ADOLESCENTS; PREVALENCE; POPULATION
AB Children and adolescents with autism spectrum disorder (ASD) have much higher rates of anxiety disorders relative to their typically developing peers. However, there have been few attempts to investigate what physiological parameters may be associated with this elevated rate of anxiety. Therefore, this study investigated the physiological correlates of anxiety in ASD, with a focus on whether measures of heart rate and cortisol responsiveness to psychosocial stress differentiate those participants with ASD with and without a co-occurring anxiety disorder. A total of 75 male participants aged 10-16 years with normal intellectual ability underwent a psychosocial stress test. The participants included healthy controls (n = 23), ASD only (ASD; n = 20) and ASD with a comorbid anxiety disorder (ASDanx; n = 32). Heart rate, heart rate variability and salivary cortisol were compared by fitting a piecewise regression model to examine baseline levels and change over time within and between the rest, stress and recovery phases of the stress test. The ASDanx group had different response patterns from both the ASD and control groups. The ASDanx group was characterized by a blunted cortisol and heart rate response to psychosocial stress. Furthermore, in the ASDanx group, reduced heart rate and cortisol responsiveness were significantly related to increased anxiety symptoms. This is the first study to report a possible physiological basis for co-occurring anxiety disorders in children and adolescents with ASD. It is possible that a non-adaptive physiological response to psychosocial stress may be related to the high prevalence of co-occurring anxiety disorders in people with ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Hollocks, Matthew J.; Simonoff, Emily] Kings Coll London, Inst Psychiat, Dept Child & Adolescent Psychiat, London SE5 8AF, England.
[Howlin, Patricia] Kings Coll London, Inst Psychiat, Dept Psychol, London SE5 8AF, England.
[Howlin, Patricia] Univ Sydney, Fac Hlth Sci, Sydney, NSW 2141, Australia.
[Papadopoulos, Andrew S.] Kings Coll London, Inst Psychiat, Dept Psychol Med, London SE5 8AF, England.
[Khondoker, Mizanur] Kings Coll London, Inst Psychiat, Dept Biostat, London SE5 8AF, England.
[Simonoff, Emily] Biomed Res Ctr Mental Hlth, London SE5 8AF, England.
RP Hollocks, MJ (reprint author), Kings Coll London, Inst Psychiat, Dept Child & Adolescent Psychiat, POB 85,16 De Crespigny Pk, London SE5 8AF, England.
EM matthew.hollocks@kcl.ac.uk
RI Khondoker, Mizanur/A-9860-2011
FU Biomedical Research Centre (BRC) in Mental Health [PCCKASA]; South
London and Maudsley Charitable Funds
FX This project was supported by the Biomedical Research Centre (BRC) in
Mental Health, code: PCCKASA.Funding for equipment and saliva analyses
was provided by a grant from the South London and Maudsley Charitable
Funds.
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NR 60
TC 4
Z9 4
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0306-4530
J9 PSYCHONEUROENDOCRINO
JI Psychoneuroendocrinology
PD AUG
PY 2014
VL 46
BP 32
EP 45
DI 10.1016/j.psyneuen.2014.04.004
PG 14
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AK4RZ
UT WOS:000338413100004
PM 24882156
ER
PT J
AU Miller, M
Chukoskie, L
Zinni, M
Townsend, J
Trauner, D
AF Miller, M.
Chukoskie, L.
Zinni, M.
Townsend, J.
Trauner, D.
TI Dyspraxia, motor function and visual-motor integration in autism
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Autism; Dyspraxia; Motor; Visual-motor integration; Eye movement;
Cerebellum
ID DEVELOPMENTAL COORDINATION DISORDER; SPECTRUM DISORDERS;
ASPERGER-SYNDROME; INFANTILE-AUTISM; YOUNG-CHILDREN; BASAL GANGLIA;
EXECUTIVE FUNCTION; INTERNAL-MODELS; EYE-MOVEMENTS; CEREBELLUM
AB This project assessed dyspraxia in high-functioning school aged children with autism with a focus on Ideational Praxis. We examined the association of specific underlying motor function including eye movement with ideational dyspraxia (sequences of skilled movements) as well as the possible role of visual-motor integration in dyspraxia. We found that compared to IQ-, sex- and age-matched typically developing children, the children with autism performed significantly worse on: Ideational and Buccofacial praxis; a broad range of motor tests, including measures of simple motor skill, timing and accuracy of saccadic eye movements and motor coordination; and tests of visual-motor integration. Impairments in individual children with autism were heterogeneous in nature, although when we examined the praxis data as a function of a qualitative measure representing motor timing, we found that children with poor motor timing performed worse on all praxis categories and had slower and less accurate eye movements while those with regular timing performed as well as typical children on those same tasks. Our data provide evidence that both motor function and visual-motor integration contribute to dyspraxia. We suggest that dyspraxia in autism involves cerebellar mechanisms of movement control and the integration of these mechanisms with cortical networks implicated in praxis. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Miller, M.] Univ Calif San Diego, Sch Med, La Jolla, CA 92093 USA.
[Chukoskie, L.] Univ Calif San Diego, Inst Neural Computat, La Jolla, CA 92093 USA.
[Zinni, M.; Townsend, J.; Trauner, D.] Univ Calif San Diego, Dept Neurosci, La Jolla, CA 92093 USA.
RP Townsend, J (reprint author), Univ Calif San Diego, Dept Neurosci, 9500 Gilman Dr,MC-0959, La Jolla, CA 92093 USA.
EM jtownsend@ucsd.edu
FU NIH [2 T35 HL 7491-31]; NINDS [P50-NS22343, R21-NS070296]; NSF [SMA
1041755]
FX This study was funded by the NIH 2 T35 HL 7491-31 (MM), NINDS
P50-NS22343 (DT), NINDS R21-NS070296 (JT) and NSF SMA 1041755 TDLC
Science of Learning Center (LC). Tyler Brocklehurst (Institute for
Neural Computation, UCSD) and Carin Rojas (School of Medicine,
Northwestern University) who served as trained raters scoring praxis
videos.
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NR 95
TC 0
Z9 0
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 1
PY 2014
VL 269
BP 95
EP 102
DI 10.1016/j.bbr.2014.04.011
PG 8
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AJ7GY
UT WOS:000337866400014
PM 24742861
ER
PT J
AU Zhang-James, Y
Yang, L
Middleton, FA
Yang, LN
Patak, J
Faraone, SV
AF Zhang-James, Yanli
Yang, Li
Middleton, Frank A.
Yang, Lina
Patak, Jameson
Faraone, Stephen V.
TI Autism-related behavioral phenotypes in an inbred rat substrain
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE WKY; Substrain; Social interaction; Ultrasonic vocalization; Inbred rat
ID SPONTANEOUSLY HYPERTENSIVE-RAT; MICE MUS-MUSCULUS; ANIMAL-MODEL;
ULTRASONIC VOCALIZATIONS; SPECTRUM DISORDERS; RODENT MODELS; WKY RATS;
CHILDREN; DEPRESSION; ATTENTION
AB Behavioral and genetic differences among Wistar-Kyoto (WKY) rats from different vendors and different breeders have long been observed, but generally overlooked. In our prior work, we found that two closely related WKY substrains, the WKY/NCrl and WKY/NHsd rats, differ in a small percentage of their genome which appeared to be highly enriched for autism risk genes. Although both substrains have been used widely in studies of hypertension, attention deficit/hyperactivity disorder (ADHD) and depression, they have not been tested for any autism-related behavioral phenotypes. Furthermore, these two substrains have often been used interchangeably in previous studies; no study has systematically examined the phenotypic differences that could be attributed by their small yet potentially meaningful genetic differences. In this paper we compared these two substrains on a battery of neurobehavioral tests. Although two substrains were similar in locomotor activity, WKY/NCrl rats were significantly different from WKY/NHsd rats in the elevated plus maze test, as well as measures of social interaction and ultrasonic vocalization. These strains were also compared with Sprague Dawley (SD) rats, a common outbred strain, and spontaneous hypertensive rats (SHR), an inbred rat model for ADHD and hypertension, which were derived from the same ancestor strain as the WKY strains. Our behavioral findings suggest that WKY/NCrl rats may be useful as a model autism spectrum disorders due to their lower social interest, lower ultrasonic vocalization and higher anxiety levels when WKY/NHsd rats are used as the control strain. Given the small genetic difference between the two inbred substrains, future studies to identify the exact gene and sequence variants that differ between the two may be useful for identifying the genetic mechanisms underlying these behaviors. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Zhang-James, Yanli; Middleton, Frank A.; Faraone, Stephen V.] SUNY Upstate Med Univ, Dept Psychiat, Syracuse, NY 13210 USA.
[Middleton, Frank A.; Yang, Lina; Patak, Jameson; Faraone, Stephen V.] SUNY Upstate Med Univ, Dept Neurosci & Physiol, Syracuse, NY 13210 USA.
[Yang, Li] Peking Univ, Hosp 6, Inst Mental Hlth, Beijing 100871, Peoples R China.
RP Faraone, SV (reprint author), SUNY Upstate Med Univ, 750 E Adams St, Syracuse, NY 13210 USA.
EM Zhangy@upstate.edu; yangli_pkuimh@bjmu.edu.cn; middletf@upstate.edu;
yanglin@upstate.edu; patakj@upstate.edu; sfaraone@childpsychresearch.org
FU NIH [R01MH066877]; NARSAD Young Investigator Award
FX We thank Dr. Valerie Bolivar for helpful comments on the manuscript.
This study was supported by NIH Grant R01MH066877 to Dr. Stephen Faraone
and a NARSAD Young Investigator Award to Dr. Yanli Zhang-James.
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NR 44
TC 0
Z9 0
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 1
PY 2014
VL 269
BP 103
EP 114
DI 10.1016/j.bbr.2014.04.035
PG 12
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AJ7GY
UT WOS:000337866400015
PM 24780868
ER
PT J
AU Tostanoski, A
Lang, R
Raulston, T
Carnett, A
Davis, T
AF Tostanoski, Amy
Lang, Russell
Raulston, Tracy
Carnett, Amarie
Davis, Tonya
TI Voices from the past: Comparing the rapid prompting method and
facilitated communication
SO DEVELOPMENTAL NEUROREHABILITATION
LA English
DT Article
DE Rapid Prompting Method; facilitated communication; intervention;
communication; autism; pseudoscience
ID TEACHING JOINT ATTENTION; AUTISM; CHILDREN; PSEUDOSCIENCE; INTERVENTION;
SCIENCE; GAZE
AB Objective: This article briefly reviews the history and damage caused by facilitated communication (FC) and highlights the parallels between FC and the Rapid Prompting Method (RPM).
Background: FC involves a therapist (or facilitator) supporting the hand of a person with autism while a message is typed on a letter board. FC is widely acknowledged to be a pseudoscientific, unsafe, and unethical treatment for people with autism. RPM is a more recent intervention for people with autism that involves the facilitator holding and moving the letter board while the individual with autism moves their own hand. Those who espouse the perceived benefits of FC and RPM make strikingly similar claims of hidden intelligence and extraordinary communication abilities in people with autism following treatment.
Conclusion: Clients, proponents, and practitioners of RPM should demand scientific validation of RPM in order to ensure the safety of people with disabilities that are involved with RPM.
C1 [Tostanoski, Amy; Lang, Russell; Raulston, Tracy; Carnett, Amarie] Texas State Univ San Marcos, Clin Autism Res Evaluat & Support, San Marcos, TX 78666 USA.
[Lang, Russell] Texas State Univ San Marcos, Dept Curriculum & Instruct, San Marcos, TX 78666 USA.
[Davis, Tonya] Baylor Univ, Dept Educ Psychol, Waco, TX 76798 USA.
RP Lang, R (reprint author), Texas State Univ San Marcos, Dept Curriculum & Instruct, 601 Univ Dr, San Marcos, TX 78666 USA.
EM russlang@txstate.edu
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NR 28
TC 1
Z9 1
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1751-8423
EI 1751-8431
J9 DEV NEUROREHABIL
JI Dev. Neurorehabil.
PD AUG
PY 2014
VL 17
IS 4
BP 219
EP 223
DI 10.3109/17518423.2012.749952
PG 5
WC Clinical Neurology; Pediatrics; Rehabilitation
SC Neurosciences & Neurology; Pediatrics; Rehabilitation
GA AJ8JK
UT WOS:000337949100001
PM 24102487
ER
PT J
AU Marschik, PB
Vollmann, R
Bartl-Pokorny, KD
Green, VA
van der Meer, L
Wolin, T
Einspieler, C
AF Marschik, Peter B.
Vollmann, Ralf
Bartl-Pokorny, Katrin D.
Green, Vanessa A.
van der Meer, Larah
Wolin, Thomas
Einspieler, Christa
TI Developmental profile of speech-language and communicative functions in
an individual with the Preserved Speech Variant of Rett syndrome
SO DEVELOPMENTAL NEUROREHABILITATION
LA English
DT Article
DE Communication; language; preserved speech variant; Rett syndrome; speech
ID VIDEO ANALYSIS; HOME VIDEO; AUTISM; DISORDER; CHILDREN; INFANTS; GIRLS;
DIAGNOSIS; MECP2; AGE
AB Objective: We assessed various aspects of speech-language and communicative functions of an individual with the preserved speech variant of Rett syndrome (RTT) to describe her developmental profile over a period of 11 years.
Methods: For this study, we incorporated the following data resources and methods to assess speech-language and communicative functions during pre-, peri-and post-regressional development: retrospective video analyses, medical history data, parental checklists and diaries, standardized tests on vocabulary and grammar, spontaneous speech samples and picture stories to elicit narrative competences.
Results: Despite achieving speech-language milestones, atypical behaviours were present at all times. We observed a unique developmental speech-language trajectory (including the RTT typical regression) affecting all linguistic and socio-communicative sub-domains in the receptive as well as the expressive modality.
Conclusion: Future research should take into consideration a potentially considerable discordance between formal and functional language use by interpreting communicative acts on a more cautionary note.
C1 [Marschik, Peter B.; Bartl-Pokorny, Katrin D.; Wolin, Thomas; Einspieler, Christa] Med Univ Graz, Inst Physiol IN Spired Dev Physiol & Dev Neurosci, Ctr Physiol Med, A-8010 Graz, Austria.
[Vollmann, Ralf] Karl Franzens Univ Graz, Dept Linguist, Graz, Austria.
[Green, Vanessa A.; van der Meer, Larah] Victoria Univ Wellington, Dept Educ Psychol, Wellington, New Zealand.
RP Marschik, PB (reprint author), Med Univ Graz, Inst Physiol IN Spired Dev Physiol & Dev Neurosci, Ctr Physiol Med, Harrachgasse 21-5, A-8010 Graz, Austria.
EM peter.marschik@medunigraz.at
FU Austrian Science Fund [FWF - P25241]; Lanyar Foundation [P337]
FX This study was supported by the Austrian Science Fund (FWF - P25241) and
the Lanyar Foundation (P337).
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NR 54
TC 2
Z9 2
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1751-8423
EI 1751-8431
J9 DEV NEUROREHABIL
JI Dev. Neurorehabil.
PD AUG
PY 2014
VL 17
IS 4
BP 284
EP 290
DI 10.3109/17518423.2013.783139
PG 7
WC Clinical Neurology; Pediatrics; Rehabilitation
SC Neurosciences & Neurology; Pediatrics; Rehabilitation
GA AJ8JK
UT WOS:000337949100009
PM 23870013
ER
PT J
AU Langmaid, RA
Papadopoulos, N
Johnson, BP
Phillips, JG
Rinehart, NJ
AF Langmaid, Rebecca A.
Papadopoulos, Nicole
Johnson, Beth P.
Phillips, James G.
Rinehart, Nicole J.
TI Handwriting in Children With ADHD
SO JOURNAL OF ATTENTION DISORDERS
LA English
DT Article
DE ADHD; fine motor control
ID DEFICIT-HYPERACTIVITY DISORDER; MOTOR COORDINATION; ATTENTION;
METHYLPHENIDATE; PERFORMANCE; MECHANISMS; DISEASE; FINE
AB Objective: Children with ADHD-combined type (ADHD-CT) display fine and gross motor problems, often expressed as handwriting difficulties. This study aimed to kinematically characterize the handwriting of children with ADHD using a cursive letter l's task. Method: In all, 28 boys (7-12 years), 14 ADHD-CT and 14 typically developing (TD), without developmental coordination disorder (DCD) or comorbid autism, wrote a series of four cursive letter l's using a graphics tablet and stylus. Results: Children with ADHD-CT had more inconsistent writing size than did TD controls. In addition, ADHD-CT symptom severity, specifically inattention, predicted poorer handwriting outcomes. Conclusion: In a sample of children with ADHD-CT who do not have DCD or autism, subtle handwriting differences were evident. It was concluded that handwriting might be impaired in children with ADHD in a manner dependent on symptom severity. This may reflect reports of underlying motor impairment in ADHD.
C1 [Langmaid, Rebecca A.; Papadopoulos, Nicole; Johnson, Beth P.; Phillips, James G.; Rinehart, Nicole J.] Monash Univ, Clayton, Vic 3800, Australia.
RP Rinehart, NJ (reprint author), Ctr Dev Psychiat & Psychol, 270 Ferntree Gully Rd, Notting Hill, Vic, Australia.
EM nicole.rinehart@monash.edu
FU National Health and Medical Research Council (NHMRC); Monash University
[436609, APP1004387]
FX The author(s) disclosed receipt of the following financial support for
the research and/or authorship of this article: The funding for this
research was provided in part by the National Health and Medical
Research Council (NHMRC) and Monash University [Project Grant 436609;
Project Grant APP1004387].
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NR 35
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1087-0547
EI 1557-1246
J9 J ATTEN DISORD
JI J. Atten. Disord.
PD AUG
PY 2014
VL 18
IS 6
BP 504
EP 510
DI 10.1177/1087054711434154
PG 7
WC Psychology, Developmental; Psychiatry
SC Psychology; Psychiatry
GA AJ9HF
UT WOS:000338018200003
PM 22617862
ER
PT J
AU Novotny, MA
Sharp, KJ
Rapp, JT
Jelinski, JD
Lood, EA
Steffes, AK
Ma, M
AF Novotny, Marissa A.
Sharp, Katheryne J.
Rapp, John T.
Jelinski, Joel D.
Lood, Elizabeth A.
Steffes, Ayriel K.
Ma, Monica
TI False positives with visual analysis for nonconcurrent multiple baseline
designs and ABAB designs: Preliminary findings
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE AB designs; ABAB designs; False positives; Nonconcurrent multiple
baseline designs; Reversal designs; Single-subject designs
ID YOUNG-CHILDREN; INTERVENTIONS; ACQUISITION; TECHNOLOGY; CONCURRENT;
AUTISM; ADULTS; SKILLS
AB This study evaluated the probability of generating false positives with three-tier nonconcurrent multiple baseline (NMBL) designs and ABAB designs. For Experiment 1, we generated four sets of three-tier NMBL design graphs. The first, second, and third sets consisted of fixed A-phase data points for all three tiers at 0%, 25% and 50%, respectively, and randomly generated data points in the B phases. The fourth set consisted of randomly generated data points in the A and B phases for all three tiers. Across all four sets (N=1000), results show that false positives were produced with 7.5% of three-tier NMBL design graphs and were most probable when baseline levels were set at 0% or 25%. For Experiment 2, we generated 3000 ABAB design graphs consisting of three to five data points per phase. Results indicate that no false positives were produced, regardless of the number of data points included in each phase. Results of this study support specific guidelines for the use of NMBL designs and ABAB designs. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Novotny, Marissa A.; Sharp, Katheryne J.; Jelinski, Joel D.; Lood, Elizabeth A.; Steffes, Ayriel K.] St Cloud State Univ, St Cloud, MN 56301 USA.
[Rapp, John T.] Auburn Univ, Auburn, AL 36849 USA.
[Ma, Monica] Calif State Univ Sacramento, Sacramento, CA 95819 USA.
RP Rapp, JT (reprint author), Auburn Univ, Dept Psychol, 226 Thach, Auburn, AL 36849 USA.
EM jtr0014@auburn.edu
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NR 35
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 AUG
PY 2014
VL 8
IS 8
BP 933
EP 943
DI 10.1016/j.rasd.2014.04.009
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AJ8UF
UT WOS:000337982600001
ER
PT J
AU Matsuda, S
Yamamoto, J
AF Matsuda, Soichiro
Yamamoto, Junichi
TI Computer-based intervention for inferring facial expressions from the
socio-emotional context in two children with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Facial expressions; Autism; Matching-to-sample; Socio-emotional
situations; Emotion recognition
ID PERVASIVE DEVELOPMENTAL DISORDERS; CONDITIONAL DISCRIMINATION;
DIAGNOSTIC INTERVIEW; ASPERGERS-SYNDROME; AFFECTIVE PROSODY; BASIC
EMOTIONS; YOUNG-CHILDREN; RECOGNITION; PEOPLE; FACES
AB Difficulties in understanding others' emotions have been widely reported in autism spectrum disorders (ASDs). Many methodologies for evaluating the emotion recognition can be analyzed by matching-to-sample (MTS) procedures. When using movies of socio-emotional situations as sample stimuli, children with ASD have been found to have difficulties in understanding them. Furthermore, there are few intervention studies that have targeted understanding of socio-emotional situations in children with ASD. The present study examined whether two young children with ASD can acquire the relationships between movies of socio-emotional situations and pictures of facial expressions through computer-based MTS training. The movies of situations and pictures of facial expressions represented happy, surprised, angry and sad emotions. The child with ASD was required to select the picture of facial expression when presented with the movie of socio-emotional situations as a sample stimulus, and if so, whether these skills can be generalized to untrained stimuli. We used a multiple baseline design across participants, and the results demonstrated that both children learned the relationships and improved their performance with untrained stimuli. These findings are discussed in terms of procedures to increase the understanding of others' emotions at an early developmental stage. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Matsuda, Soichiro; Yamamoto, Junichi] Keio Univ, Dept Psychol, Tokyo, Japan.
RP Matsuda, S (reprint author), Keio Univ, Dept Psychol, Minato Ku, 2-15-45 Mita, Tokyo, Japan.
EM atom.opens.the.stargate@gmail.com
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NR 39
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 AUG
PY 2014
VL 8
IS 8
BP 944
EP 950
DI 10.1016/j.rasd.2014.04.010
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AJ8UF
UT WOS:000337982600002
ER
PT J
AU Goldin, RL
Matson, JL
Konst, MJ
Adams, HL
AF Goldin, Rachel L.
Matson, Johnny L.
Konst, Matthew J.
Adams, Hilary L.
TI A comparison of children and adolescents with ASD, atypical development,
and typical development on the Behavioral Assessment System for
Children, Second Edition (BASC-2)
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Atypical development; BASC-2
ID AUTISM-SPECTRUM DISORDERS; PSYCHIATRIC-DISORDERS; INTELLECTUAL
DISABILITIES; CHALLENGING BEHAVIORS; FEEDING PROBLEMS; TRAITS BISCUIT;
INFANT SCREEN; PREVALENCE; PSYCHOPATHOLOGY; SYMPTOMS
AB The present study examined the use of the Behavioral Assessment System for Children, Second Edition (BASC-2) in discerning 151 children and adolescents 12-16 years of age with autism spectrum disorder (ASD) from atypically and typically developing children and adolescents. Scores on the BASC-2 composites (i.e., externalizing behaviors, internalizing behaviors, behavior symptom index [BSI], adaptive behaviors) and subscales (i.e., hyperactivity, aggression, conduct problems, anxiety, depression, somatization, atypicality, withdrawal, attention, adaptability, social skills, leadership, activities of daily living, functional communication) were compared between children and adolescents with ASD, atypical development, and typical development. With the exception of aggression, somatization, and internalizing behaviors, participants with ASD were significantly more impaired than typically developing participants in all other composites and subscales. In comparison to atypically developing participants, the scores of participants with ASD evinced more impairment for BSI and its subscales, with the exception of attention, and the adaptive behavior composite and its subscales, with the exception of adaptability. Scores on the externalizing behaviors and internalizing behaviors composites and their subscales, with the exception of anxiety, were not significantly different. Research and clinical implications are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Goldin, Rachel L.; Matson, Johnny L.; Konst, Matthew J.; Adams, Hilary L.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Goldin, RL (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM rgoldi3@lsu.edu
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NR 59
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 AUG
PY 2014
VL 8
IS 8
BP 951
EP 957
DI 10.1016/j.rasd.2014.04.005
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AJ8UF
UT WOS:000337982600003
ER
PT J
AU Dolev, S
Oppenheim, D
Koren-Karie, N
Yirmiya, N
AF Dolev, Smadar
Oppenheim, David
Koren-Karie, Nina
Yirmiya, Nurit
TI Early attachment and maternal insightfulness predict educational
placement of children with autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Educational placement; Maternal insightfulness; Attachment
ID SPECTRUM DISORDER; SEVERE DISABILITIES; YOUNG-CHILDREN; MOTHERS
INSIGHTFULNESS; INTERNAL EXPERIENCE; PRESCHOOL-CHILDREN;
MENTAL-RETARDATION; PARENTS; SENSITIVITY; INFANTS
AB We examined whether mothers' insightfulness - their capacity to "see things from the child's point of view" - and children's attachment, both assessed during the preschool years, are associated with the educational placement of children with ASD in middle childhood and early adolescence beyond the prediction offered by children's IQ and interactive competence. 39 boys with autism and their mothers participated. We assessed mothers' insightfulness, and children's attachment to their mothers, their intelligence and their interactional competencies. The results supported our hypothesis. The emotional quality of the relationship between the children and their mothers during the preschool age, as reflected in the mothers' insightfulness and the children's attachment security, predicted children's educational placement in inclusive programs 4.5 and 8.5 years later, over and above the prediction offered by children's IQ and their interactive competence. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Dolev, Smadar] Oranim Coll Educ, Early Childhood Dept, IL-36006 Tivon, Israel.
[Oppenheim, David; Koren-Karie, Nina] Ctr Study Child Dev, IL-3498838 Haifa, Israel.
[Yirmiya, Nurit] Hebrew Univ Jerusalem, Dept Psychol, IL-91905 Jerusalem, Israel.
RP Dolev, S (reprint author), Oranim Coll Educ, Early Childhood Dept, IL-36006 Tivon, Israel.
EM smadar_d@oranim.ac.il; oppenhei@psy.haifa.ac.il; nkoren@psy.haifa.ac.il;
nyirmiya@gmail.com
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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 AUG
PY 2014
VL 8
IS 8
BP 958
EP 967
DI 10.1016/j.rasd.2014.04.012
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AJ8UF
UT WOS:000337982600004
ER
PT J
AU Matson, JL
Jang, JN
AF Matson, Johnny L.
Jang, Jina
TI Conceptualizing skills that are most critical in diagnosing autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Core symptoms; Autism; Differential diagnosis; DSM-5
ID PERVASIVE DEVELOPMENTAL DISORDER; DSM-IV-TR; INTENSIVE BEHAVIORAL
INTERVENTION; SPECTRUM DISORDERS; INTELLECTUAL DISABILITY; CHALLENGING
BEHAVIORS; ASPERGERS SYNDROME; FEEDING PROBLEMS; INFANT SCREEN; PDD-NOS
AB Autism spectrum disorders (ASD) consist of a broad but heterogeneous group of symptoms. This factor has resulted in a debate as to whether the disorder is a unitary construct or a group of related disorders with a similar symptom presentation. Additionally, some core symptoms are seen in other developmental disabilities such as intellectual disability. This review covers these and related issues in the context of what symptoms are most critical for diagnosing ASD and distinguishing it from other developmental disabilities. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Matson, Johnny L.; Jang, Jina] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Jang, JN (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM Jinajang87@gmail.com
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NR 68
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 AUG
PY 2014
VL 8
IS 8
BP 968
EP 973
DI 10.1016/j.rasd.2014.04.011
PG 6
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AJ8UF
UT WOS:000337982600005
ER
PT J
AU Chiang, HM
Wineman, I
AF Chiang, Hsu-Min
Wineman, Immanuel
TI Factors associated with quality of life in individuals with autism
spectrum disorders: A review of literature
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Review
DE Autism spectrum disorder; ASD; Quality of life; Adults; Children;
Outcomes
ID HIGH-FUNCTIONING AUTISM; CHALLENGING BEHAVIOR; ASPERGER-SYNDROME;
ADULTS; CHILDREN; ADOLESCENTS; COMMUNICATION; DISABILITIES; POPULATION;
EMPLOYMENT
AB This review study was conducted to synthesize the existing research on the level of quality of life (QoL) in individuals with autism spectrum disorders (ASD) and the factors associated with their QoL. A total of 16 studies were included for this review. This study found that (a) the majority of the individuals with ASD had poor QoL; (b) behavior problems and leisure activities were associated with the QoL of the majority of adults with ASD; (c) autism severity, age, behavior problems, social skills, adaptive behavior, education, and comorbid psychiatric conditions were associated with the QoL of the majority of children with ASD. These findings may provide critical information to parents/caregivers of individuals with ASD and practitioners providing services to them. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Chiang, Hsu-Min; Wineman, Immanuel] Columbia Univ, Teachers Coll, Hlth & Behav Studies Special Educ Program, New York, NY 10027 USA.
RP Chiang, HM (reprint author), Columbia Univ, Teachers Coll, Hlth & Behav Studies Special Educ Program, Box 223,525 W120th St, New York, NY 10027 USA.
EM hchiang@tc.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Bachmann C. J., 2010, GMS PSYCHOSOCIAL MED, V7, P1
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World Health Organization, 1998, WHOQ US MAN
NR 30
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 AUG
PY 2014
VL 8
IS 8
BP 974
EP 986
DI 10.1016/j.rasd.2014.05.003
PG 13
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AJ8UF
UT WOS:000337982600006
ER
PT J
AU Makinen, L
Loukusa, S
Leinonen, E
Moilanen, I
Ebeling, H
Kunnari, S
AF Makinen, Leena
Loukusa, Soile
Leinonen, Eeva
Moilanen, Irma
Ebeling, Hanna
Kunnari, Sari
TI Characteristics of narrative language in autism spectrum disorder:
Evidence from the Finnish
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Comprehension; Linguistic structure;
Narratives; Pragmatics; Referencing
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; COHERENCE ACCOUNT;
NORMAL-CHILDREN; STORY RECALL; ABILITY; COMMUNICATION; IMPAIRMENT;
SYMPTOMATOLOGY; COMPREHENSION
AB This study examined linguistic and pragmatic aspects of narrative abilities of children with autism spectrum disorder (ASD), which have not been studied thoroughly and not at all in Finnish. Sixteen five- to ten-year-old Finnish high-functioning children with ASD (mean age 7;7 years) and 16 age-matched typically developing children (mean age 7;5 years) participated in this study. Children's picture-based narrations were analyzed for narrative productivity, syntactic complexity, referential accuracy, event content, use of additional and extraneous information, mental state expressions, and narrative comprehension. Several linguistic- and pragmatic-based measures were used in order to gain a comprehensive picture of strengths and weaknesses that children with ASD might show in storytelling. The use of linguistic structure, referential accuracy and mental state expressions was similar between the groups. However, children with ASD showed difficulties in establishing informative story content, making inferences from story events and an ability not to include extraneous information into their stories. Therefore, the problems seen in their narrative language use can be described as being related to pragmatic aspects of narration. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Makinen, Leena; Loukusa, Soile; Kunnari, Sari] Univ Oulu, Fac Humanities Logoped, Oulu 90014, Finland.
[Makinen, Leena; Loukusa, Soile; Kunnari, Sari] Univ Oulu, Child Language Res Ctr, Oulu 90014, Finland.
[Leinonen, Eeva] Univ Wollongong, Sch Psychol, Wollongong, NSW 2522, Australia.
[Moilanen, Irma; Ebeling, Hanna] Univ Hosp Oulu, Inst Clin Med, Dept Child Psychiat, Oulu 90029, Finland.
RP Makinen, L (reprint author), Univ Oulu, Fac Humanities Logoped, POB 1000, Oulu 90014, Finland.
EM leena.makinen@oulu.fi; soile.loukusa@oulu.fi; leinonen@uow.edu.au;
irma.moilanen@oulu.fi; hanna.ebeling@oulu.fi; sari.kunnari@oulu.fi
CR American Psychiatric Association, 2013, DIAGNOSTIC AND STATI
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NR 53
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 AUG
PY 2014
VL 8
IS 8
BP 987
EP 996
DI 10.1016/j.rasd.2014.05.001
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AJ8UF
UT WOS:000337982600007
ER
PT J
AU Tanaka, JW
Quim, PC
Xu, BY
Maynard, K
Huxtable, N
Lee, K
Pascalis, O
AF Tanaka, James W.
Quim, Paul C.
Xu, Buyun
Maynard, Kim
Huxtable, Natalie
Lee, Kang
Pascalis, Olivier
TI The effects of information type (features vs. configuration) and
location (eyes vs. mouth) on the development of face perception
SO JOURNAL OF EXPERIMENTAL CHILD PSYCHOLOGY
LA English
DT Article
DE Face recognition; Face perception; Configural processing; Featural
processing; Face strategies
ID AUTISM SPECTRUM DISORDER; FACIAL FEATURES; PROCESSING DEVELOPS; NEWBORNS
PREFERENCE; SPATIAL RELATIONS; EARLY MATURITY; RECOGNITION; INVERSION;
PROSOPAGNOSIA; SENSITIVITY
AB The goal of the current study was to investigate the development of face processing strategies in a perceptual discrimination task. Children (7-12 years of age) and young adults were administered the Face Dimensions Task. In the Face Dimensions Task, participants were asked to judge whether two simultaneously presented faces were the "same" or "different". For the "same" trials, the two faces were identical. For the "different" trials, the faces differed in either the spacing between the eyes, the spacing between the nose and the mouth, the size of the eyes, or the size of the mouth. The main finding was that 7- to 10-year-old children showed no difference in their ability to discriminate differences in eye size and eye spacing but showed a poor ability to discriminate differences in nose and mouth spacing and, to a lesser extent, mouth size. The developmental lag between nose-mouth discriminations and the other featural and configural discriminations was reduced in older children and eliminated by young adulthood. These results indicate that the type of face information (i.e., configural vs. featural) and its location (i.e., eye vs. mouth) jointly contribute to the development of face perception abilities. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Tanaka, James W.; Xu, Buyun; Maynard, Kim; Huxtable, Natalie] Univ Victoria, Dept Psychol, Victoria, BC V8W 3P5, Canada.
[Quim, Paul C.] Univ Delaware, Dept Psychol, Newark, DE 19716 USA.
[Lee, Kang] Univ Toronto, Eric Jackman Inst Child Study, Toronto, ON M5S 1V6, Canada.
[Pascalis, Olivier] Univ Pierre Mendes France, Lab Psychol & Neurocognit, CNRS UMR 5105, F-38040 Grenoble, France.
RP Tanaka, JW (reprint author), Univ Victoria, Dept Psychol, POB 3050, Victoria, BC V8W 3P5, Canada.
EM jtanaka@uvic.ca
CR Bhatt RS, 2005, CHILD DEV, V76, P169, DOI 10.1111/j.1467-8624.2005.00837.x
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NR 51
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 0022-0965
EI 1096-0457
J9 J EXP CHILD PSYCHOL
JI J. Exp. Child Psychol.
PD AUG
PY 2014
VL 124
BP 36
EP 49
DI 10.1016/j.jecp.2014.01.001
PG 14
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA AJ4KX
UT WOS:000337646300003
PM 24747157
ER
PT J
AU Henderson, V
Davidson, J
Hemsworth, K
Edwards, S
AF Henderson, Victoria
Davidson, Joyce
Hemsworth, Katie
Edwards, Sophie
TI Hacking the master code: cyborg stories and the boundaries of autism
SO SOCIAL & CULTURAL GEOGRAPHY
LA English
DT Article
DE cyborg; autism; disability; technology; normalcy; Internet
ID GEOGRAPHIES; INTERNET; ONLINE; SPACES; UNDERSTANDINGS; COMMUNICATION;
INFORMATION; DISABILITY; SPECTRUM; IDENTITY
AB In this paper, we consider how the use of Internet technologies by individuals on the autism spectrum (AS) may contribute to recoding the spatial, sociopolitical, ontological, and epistemological boundaries commonly assumed to delimit autistic from non-autistic lifeworlds. Drawing on the work of Donna Haraway, we argue that the responses of AS individuals to a survey about online communication suggest these individuals are engaged in a form of cyborg writing, admixing constraints and opportunities in a way that opens alternative, polycentric, and indeterminate but nonetheless important political possibilities for people on (and off) the AS.
C1 [Henderson, Victoria; Davidson, Joyce; Hemsworth, Katie; Edwards, Sophie] Queens Univ, Dept Geog, Kingston, ON K7L 3N6, Canada.
RP Henderson, V (reprint author), Queens Univ, Dept Geog, Mackintosh Corry Hall,Room D201, Kingston, ON K7L 3N6, Canada.
EM victoria.henderson@queensu.ca
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NR 79
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1464-9365
EI 1470-1197
J9 SOC CULT GEOGR
JI Soc. Cult. Geogr.
PD AUG
PY 2014
VL 15
IS 5
BP 504
EP 524
DI 10.1080/14649365.2014.898781
PG 21
WC Geography
SC Geography
GA AJ3TK
UT WOS:000337590100002
ER
PT J
AU Brosnan, M
Hollinworth, M
Antoniadou, K
Lewton, M
AF Brosnan, Mark
Hollinworth, Melissa
Antoniadou, Konstantina
Lewton, Marcus
TI Is Empathizing intuitive and Systemizing deliberative?
SO PERSONALITY AND INDIVIDUAL DIFFERENCES
LA English
DT Article
DE Empathizing; Systemizing; E-S theory; Intuition; Deliberation; Dual
process theory
ID HIGH-FUNCTIONING AUTISM; NORMAL SEX-DIFFERENCES; MALE BRAIN THEORY;
ASPERGER-SYNDROME; INDIVIDUAL-DIFFERENCES; EMOTION RECOGNITION; SPECTRUM
DISORDERS; FACIAL EXPRESSIONS; DECISION-MAKING; ADULTS
AB This is the first study to explore the relationship between Empathizing-Systemizing (E-S) theory that provides an account of sex differences in human cognition and dual process theories of cognition. 68 Undergraduates undertook both performance and self-report assessments of Empathizing, intuition, Systemizing and deliberation. A fast (500 ms) and slow (5000 ms) version of the Reading the Mind in the Eyes Task (RMET) was included to explore the effects of rapid presentation on emotional stimuli. Consistent with E-S theory, sex differences were found in Empathizing (favouring females) and Systemizing (favouring males). Females were also found to be more intuitive and males more deliberative for performance, but not self-report, assessments of intuition and deliberation. Empathizing significantly positively correlated with intuition and negatively with deliberation. Conversely. Systemizing significantly positively correlated with deliberation and negatively with intuition (trend). This pattern was replicated in a study of 65 participants from the general population. The exception was the RMET which had no significant sex differences or correlates (fast or slow). The implications for considering both dual process theories of cognition and E-S theory are discussed, with a focus upon the implications for Autism Spectrum Disorder and psychosis. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Brosnan, Mark; Hollinworth, Melissa; Lewton, Marcus] Univ Bath, Bath BA2 7AY, Avon, England.
[Antoniadou, Konstantina] Maastricht Univ, NL-6200 MD Maastricht, Netherlands.
RP Brosnan, M (reprint author), Univ Bath, Dept Psychol, Bath BA2 7AY, Avon, England.
EM M.J.Brosnan@Bath.ac.uk
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Walsh J. A., 2013, J AUTISM DEV DISORDE
NR 38
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0191-8869
J9 PERS INDIV DIFFER
JI Pers. Individ. Differ.
PD AUG
PY 2014
VL 66
BP 39
EP 43
DI 10.1016/j.paid.2014.03.006
PG 5
WC Psychology, Social
SC Psychology
GA AI9OO
UT WOS:000337262100009
ER
PT J
AU Dockrell, JE
Ricketts, J
Charman, T
Lindsay, G
AF Dockrell, Julie E.
Ricketts, Jessie
Charman, Tony
Lindsay, Geoff
TI Exploring writing products in students with language impairments and
autism spectrum disorders
SO LEARNING AND INSTRUCTION
LA English
DT Article
DE Written text production; Language impairment; ASD; Transcription; Text
generation
ID CURRICULUM-BASED MEASURES; MIDDLE SCHOOL STUDENTS; WRITTEN LANGUAGE;
LEARNING-DISABILITIES; WORKING-MEMORY; ORAL LANGUAGE; AGE-CHILDREN;
EXPRESSION; SKILLS; INSTRUCTION
AB Oral language skills scaffold written text production; students with oral language difficulties often experience writing problems. The current study examines the ways in which oral language problems experienced by students with language impairment (LI) and students with autism spectrum disorders (ASD) impact on their production of written text. One hundred and fifty seven participants (M-age = 10;2) with LI or ASD completed standardized measures of oral language, transcription, working memory, and nonverbal ability and produced a written narrative text assessed for productivity, grammatical accuracy, and quality. Measures of transcription, productivity, and grammatical accuracy, but not text quality, were poorer for students with LI. Transcription skills accounted for the majority of variance in the writing of the LI cohort. For the ASD cohort, handwriting, oral language and autism symptomatology were significant predictors. When students with ASD also experienced language problems, their performance was equivalent to that observed in the LI cohort. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Dockrell, Julie E.] Univ London, Inst Educ, Dept Psychol & Human Dev, London WC1E 7HU, England.
[Ricketts, Jessie] Univ Reading, Inst Educ, Reading RG6 2AH, Berks, England.
[Charman, Tony] Kings Coll London, Inst Psychiat, Dept Psychol, London WC2R 2LS, England.
[Lindsay, Geoff] Univ Warwick, CEDAR, Coventry CV4 7AL, W Midlands, England.
RP Dockrell, JE (reprint author), Inst Educ, 25 Woburn Sq, London WC1H 0AL, England.
EM julie.dockrell@ioe.ac.uk
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World Health Organization, 1993, MENT DIS GLOSS GUID
NR 74
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0959-4752
J9 LEARN INSTR
JI Learn Instr.
PD AUG
PY 2014
VL 32
BP 81
EP 90
DI 10.1016/j.learninstruc.2014.01.008
PG 10
WC Education & Educational Research; Psychology, Educational
SC Education & Educational Research; Psychology
GA AG0NJ
UT WOS:000335111900008
ER
PT J
AU Gonzalez-Gadea, ML
Tripicchio, P
Rattazzi, A
Baez, S
Marino, J
Roca, M
Manes, F
Ibanez, A
AF Luz Gonzalez-Gadea, Maria
Tripicchio, Paula
Rattazzi, Alexia
Baez, Sandra
Marino, Julian
Roca, Maria
Manes, Facundo
Ibanez, Agustin
TI Inter-individual cognitive variability in children with Asperger's
syndrome
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE individual variability; fluid intelligence; theory of mind; executive
functions; Asperger's syndrome
ID HIGH-FUNCTIONING AUTISM; OSTERRIETH COMPLEX FIGURE; PERVASIVE
DEVELOPMENTAL DISORDER; FRONTAL-LOBE LESIONS; MULTIPLE CASE SERIES;
SPECTRUM DISORDERS; FLUID INTELLIGENCE; EXECUTIVE FUNCTION; DISEMBEDDING
PERFORMANCE; PARIETAL CORTEX
AB Multiple studies have tried to establish the distinctive profile of individuals with Asperger's syndrome (AS). However, recent reports suggest that adults with AS feature heterogeneous cognitive profiles. The present study explores inter-individual variability in children with AS through group comparison and multiple case series analysis. All participants completed an extended battery including measures of fluid and crystallized intelligence, executive functions, theory of mind, and classical neuropsychological tests. Significant group differences were found in theory of mind and other domains related to global information processing. However, the AS group showed high inter-individual variability (both sub- and supra-normal performance) on most cognitive tasks. Furthermore, high fluid intelligence correlated with less general cognitive impairment, high cognitive flexibility, and speed of motor processing. In light of these findings, we propose that children with AS are characterized by a distinct, uneven pattern of cognitive strengths and weaknesses.
C1 [Luz Gonzalez-Gadea, Maria; Tripicchio, Paula; Rattazzi, Alexia; Baez, Sandra; Roca, Maria; Manes, Facundo; Ibanez, Agustin] Favaloro Univ, Inst Cognit Neurol, Lab Expt Psychol & Neurosci, Buenos Aires, DF, Argentina.
[Luz Gonzalez-Gadea, Maria; Baez, Sandra; Roca, Maria; Manes, Facundo; Ibanez, Agustin] Natl Sci & Tech Res Council, Buenos Aires, DF, Argentina.
[Luz Gonzalez-Gadea, Maria; Baez, Sandra; Roca, Maria; Manes, Facundo; Ibanez, Agustin] Diego Portales Univ, UDP INECO Fdn Core Neurosci, Santiago, Chile.
[Baez, Sandra] Univ Catolica Argentina, Buenos Aires, DF, Argentina.
[Marino, Julian] Univ Nacl Cordoba, Fac Psicol, RA-5000 Cordoba, Argentina.
[Manes, Facundo; Ibanez, Agustin] Australian Res Council, Ctr Excellence Cognit & Its Disorders, Sydney, NSW, Australia.
[Manes, Facundo; Ibanez, Agustin] Univ Autonoma Caribe, Barranquilla, Colombia.
RP Ibanez, A (reprint author), Favaloro Univ, Inst Cognit Neurol, Lab Expt Psychol & Neurosci, Pacheco de Melo 1854-60 C1126AAB, Buenos Aires, DF, Argentina.
EM aibanez@ineco.org.ar
FU CONICET; CONICYT/FONDECYT Regular [1130920, 1140114]; FONCyT-PICT
[2012-0412, 2012-1309]; INECO Foundation; Fiat Foundation
FX This work was partially supported by grants from CONICET,
CONICYT/FONDECYT Regular (1130920 and 1140114), FONCyT-PICT 2012-0412,
FONCyT-PICT 2012-1309, the INECO Foundation, and Fiat Foundation. The
authors thank Asociacion Asperger Argentina, Ernesto Walhberg, and Sofia
Peluffo for helping with the patient recruitment process.
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NR 92
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 JUL 31
PY 2014
VL 8
AR 575
DI 10.3389/fnhum.2014.00575
PG 11
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AN5CM
UT WOS:000340606900001
PM 25132817
ER
PT J
AU Dore, AS
Okrasa, K
Patel, JC
Serrano-Vega, M
Bennett, K
Cooke, RM
Errey, JC
Jazayeri, A
Khan, S
Tehan, B
Weir, M
Wiggin, GR
Marshall, FH
AF Dore, Andrew S.
Okrasa, Krzysztof
Patel, Jayesh C.
Serrano-Vega, Maria
Bennett, Kirstie
Cooke, Robert M.
Errey, James C.
Jazayeri, Ali
Khan, Samir
Tehan, Ben
Weir, Malcolm
Wiggin, Giselle R.
Marshall, Fiona H.
TI Structure of class C GPCR metabotropic glutamate receptor 5
transmembrane domain
SO NATURE
LA English
DT Article
ID PROTEIN-COUPLED RECEPTORS; ALLOSTERIC MODULATORS; HEPTAHELICAL DOMAIN;
MEMBRANE-PROTEINS; CRYSTAL-STRUCTURE; BINDING POCKETS; CONFORMATION;
ACTIVATION; FAMILY; THERMOSTABILIZATION
AB Metabotropic glutamate receptors are class C G-protein-coupled receptors which respond to the neurotransmitter glutamate. Structural studies have been restricted to the amino-terminal extracellular domain, providing little understanding of the membrane-spanning signal transduction domain. Metabotropic glutamate receptor 5 is of considerable interest as a drug target in the treatment of fragile X syndrome, autism, depression, anxiety, addiction and movement disorders. Here we report the crystal structure of the transmembrane domain of the human receptor in complex with the negative allosteric modulator, mavoglurant. The structure provides detailed insight into the architecture of the transmembrane domain of class C receptors including the precise location of the allosteric binding site within the transmem-branedomain and key micro-switches which regulate receptor signalling. This structure also provides a model for all class CG-protein-coupled receptors and may aid in the design of new small-molecule drugs for the treatment of brain disorders.
C1 [Dore, Andrew S.; Okrasa, Krzysztof; Patel, Jayesh C.; Serrano-Vega, Maria; Bennett, Kirstie; Cooke, Robert M.; Errey, James C.; Jazayeri, Ali; Khan, Samir; Tehan, Ben; Weir, Malcolm; Wiggin, Giselle R.; Marshall, Fiona H.] Heptares Therapeut Ltd, Welwyn Garden City AL7 3AX, Herts, England.
RP Marshall, FH (reprint author), Heptares Therapeut Ltd, BioPk,Broadwater Rd, Welwyn Garden City AL7 3AX, Herts, England.
EM fiona.marshall@heptares.com
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NR 50
TC 32
Z9 33
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 JUL 30
PY 2014
VL 511
IS 7511
BP 557
EP +
DI 10.1038/nature13396
PG 18
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AM0VT
UT WOS:000339566300027
PM 25042998
ER
PT J
AU Pirooznia, M
Kramer, M
Parla, J
Goes, FS
Potash, JB
McCombie, WR
Zandi, PP
AF Pirooznia, Mehdi
Kramer, Melissa
Parla, Jennifer
Goes, Fernando S.
Potash, James B.
McCombie, W. Richard
Zandi, Peter P.
TI Validation and assessment of variant calling pipelines for
next-generation sequencing
SO HUMAN GENOMICS
LA English
DT Article
DE Variant calling pipelines; Next-generation sequencing; Exome sequencing
ID DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS; EXOME; TOOL; CANCER;
INDIVIDUALS; ASSOCIATION; CONCORDANCE; DISCOVERY; FRAMEWORK
AB Background: The processing and analysis of the large scale data generated by next-generation sequencing (NGS) experiments is challenging and is a burgeoning area of new methods development. Several new bioinformatics tools have been developed for calling sequence variants from NGS data. Here, we validate the variant calling of these tools and compare their relative accuracy to determine which data processing pipeline is optimal.
Results: We developed a unified pipeline for processing NGS data that encompasses four modules: mapping, filtering, realignment and recalibration, and variant calling. We processed 130 subjects from an ongoing whole exome sequencing study through this pipeline. To evaluate the accuracy of each module, we conducted a series of comparisons between the single nucleotide variant (SNV) calls from the NGS data and either gold-standard Sanger sequencing on a total of 700 variants or array genotyping data on a total of 9,935 single-nucleotide polymorphisms. A head to head comparison showed that Genome Analysis Toolkit (GATK) provided more accurate calls than SAMtools (positive predictive value of 92.55% vs. 80.35%, respectively). Realignment of mapped reads and recalibration of base quality scores before SNV calling proved to be crucial to accurate variant calling. GATK HaplotypeCaller algorithm for variant calling outperformed the UnifiedGenotype algorithm. We also showed a relationship between mapping quality, read depth and allele balance, and SNV call accuracy. However, if best practices are used in data processing, then additional filtering based on these metrics provides little gains and accuracies of >99% are achievable.
Conclusions: Our findings will help to determine the best approach for processing NGS data to confidently call variants for downstream analyses. To enable others to implement and replicate our results, all of our codes are freely available at http://metamoodics.org/wes.
C1 [Pirooznia, Mehdi; Goes, Fernando S.; Zandi, Peter P.] Johns Hopkins Univ, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA.
[Kramer, Melissa; Parla, Jennifer; McCombie, W. Richard] Cold Spring Harbor Lab, Stanley Inst Cognit Genom, Woodbury, NY 11797 USA.
[Potash, James B.] Univ Iowa, Sch Med, Carver Coll Med, Dept Psychiat, Iowa City, IA 52242 USA.
[McCombie, W. Richard] Cold Spring Harbor Lab, Watson Sch Biol Sci, Cold Spring Harbor, NY 11724 USA.
[Zandi, Peter P.] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Mental Hlth, Baltimore, MD 21205 USA.
RP Zandi, PP (reprint author), Johns Hopkins Univ, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA.
EM pzandi@jhsph.edu
FU NIH [R01MH087979, R01MH087992, K01MH093809]
FX This project is supported by the NIH funding from R01MH087979 (JBP),
R01MH087992 (WRM), and K01MH093809 (MP).
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NR 38
TC 2
Z9 2
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1473-9542
EI 1479-7364
J9 HUM GENOMICS
JI Hum. Genomics
PD JUL 30
PY 2014
VL 8
AR 14
DI 10.1186/1479-7364-8-14
PG 10
WC Genetics & Heredity
SC Genetics & Heredity
GA AN9YB
UT WOS:000340964300001
PM 25078893
ER
PT J
AU Lozano, R
Hagerman, RJ
Duyzend, M
Budimirovic, DB
Eichler, EE
Tassone, F
AF Lozano, Reymundo
Hagerman, Randi J.
Duyzend, Michael
Budimirovic, Dejan B.
Eichler, Evan E.
Tassone, Flora
TI Genomic studies in fragile X premutation carriers
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Premutation; FMR1 gene; Autism; Second hit; ASD; Neurodevelopmental
disorders; Neurological disorders
ID COPY NUMBER VARIATION; FMR1 MESSENGER-RNA; TREMOR/ATAXIA SYNDROME;
MENTAL-RETARDATION; MITOCHONDRIAL DYSFUNCTION; EXPANDED ALLELES; GENE;
AUTISM; DISORDERS; SPECTRUM
AB Background: The FMR1 premutation is defined as having 55 to 200 CGG repeats in the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1). The clinical involvement has been well characterized for fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI). The behavior/psychiatric and other neurological manifestations remain to be specified as well as the molecular mechanisms that will explain the phenotypic variability observed in individuals with the FMR1 premutation.
Methods: Here we describe a small pilot study of copy number variants (CNVs) in 56 participants with a premutation ranging from 55 to 192 repeats. The participants were divided into four different clinical groups for the analysis: those with behavioral problems but no autism spectrum disorder (ASD); those with ASD but without neurological problems; those with ASD and neurological problems including seizures; and those with neurological problems without ASD.
Results: We found 12 rare CNVs (eight duplications and four deletions) in 11 cases (19.6%) that were not found in approximately 8,000 controls. Three of them were at 10q26 and two at Xp22.3, with small areas of overlap. The CNVs were more commonly identified in individuals with neurological involvement and ASD.
Conclusions: The frequencies were not statistically significant across the groups. There were no significant differences in the psychometric and behavior scores among all groups. Further studies are necessary to determine the frequency of second genetic hits in individuals with the FMR1 premutation; however, these preliminary results suggest that genomic studies can be useful in understanding the molecular etiology of clinical involvement in premutation carriers with ASD and neurological involvement.
C1 [Lozano, Reymundo; Hagerman, Randi J.; Tassone, Flora] Univ Calif Davis, Med Ctr, MIND Inst, Sacramento, CA 95817 USA.
[Lozano, Reymundo; Hagerman, Randi J.] Univ Calif Davis, Med Ctr, Dept Pediat, Sacramento, CA 95817 USA.
[Duyzend, Michael; Eichler, Evan E.] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA USA.
[Budimirovic, Dejan B.] Johns Hopkins Med Inst, Kennedy Krieger Inst, Baltimore, MD 21205 USA.
[Eichler, Evan E.] Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA.
[Tassone, Flora] Univ Calif Davis, Med Ctr, Dept Biochem & Mol Med, Sacramento, CA 95817 USA.
RP Lozano, R (reprint author), Univ Calif Davis, Med Ctr, MIND Inst, 2825 50th St, Sacramento, CA 95817 USA.
EM reymundo.lozano@ucdmc.ucdavis.edu
RI Budimirovic, Dejan/O-7885-2014
OI Budimirovic, Dejan/0000-0001-7263-5134
FU National Institute of Child Health and Human Development (NICHD)
[HD02274, HD036071]
FX We would like to thank Gary Latham, Aia E Jonch, Andrea Schneider,
Melanie Rothfuss, Kirin Basuta and Cristina Lozano for useful
discussion. This work was supported by the National Institute of Child
Health and Human Development (NICHD) grants HD02274, and HD036071. This
work is dedicated to the memory of Matteo.
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NR 53
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 JUL 30
PY 2014
VL 6
AR 27
DI 10.1186/1866-1955-6-27
PG 8
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO2PF
UT WOS:000341166500001
PM 25170347
ER
PT J
AU Broek, JAC
Guest, PC
Rahmoune, H
Bahn, S
AF Broek, Jantine A. C.
Guest, Paul C.
Rahmoune, Hassan
Bahn, Sabine
TI Proteomic analysis of post mortem brain tissue from autism patients:
evidence for opposite changes in prefrontal cortex and cerebellum in
synaptic connectivity-related proteins
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism; Synaptic regulation; Molecular profiling; Post mortem brain;
Proteome; Selected reaction monitoring mass spectrometry
ID SPECTRUM DISORDERS; FUNCTIONAL CONNECTIVITY; RHESUS-MONKEY;
WHITE-MATTER; LABEL-FREE; CHILDREN; PROJECTIONS; MYELIN; QUANTIFICATION;
AUTOANTIBODIES
AB Background: Autism is a neurodevelopmental disorder characterized by impaired language, communication and social skills. Although genetic studies have been carried out in this field, none of the genes identified have led to an explanation of the underlying causes. Here, we have investigated molecular alterations by proteomic profiling of post mortem brain samples from autism patients and controls. The analysis focussed on prefrontal cortex and cerebellum as previous studies have found that these two brain regions are structurally and functionally connected, and they have been implicated in autism.
Methods: Post mortem prefrontal cortex and cerebellum samples from autism patients and matched controls were analysed using selected reaction monitoring mass spectrometry (SRM-MS). The main objective was to identify significantly altered proteins and biological pathways and to compare these across these two brain regions.
Results: Targeted SRM-MS resulted in identification of altered levels of proteins related to myelination, synaptic vesicle regulation and energy metabolism. This showed decreased levels of the immature astrocyte marker vimentin in both brain regions, suggesting a decrease in astrocyte precursor cells. Also, decreased levels of proteins associated with myelination and increased synaptic and energy-related proteins were found in the prefrontal cortex, indicative of increased synaptic connectivity. Finally, opposite directional changes were found for myelination and synaptic proteins in the cerebellum.
Conclusion: These findings suggest altered structural and/or functional connectivity in the prefrontal cortex and cerebellum in autism patients, as shown by opposite effects on proteins involved in myelination and synaptic function. Further investigation of these findings could help to increase our understanding of the mechanisms underlying autism relating to brain connectivity, with the ultimate aim of facilitating novel therapeutic approaches.
C1 [Broek, Jantine A. C.; Guest, Paul C.; Rahmoune, Hassan; Bahn, Sabine] Univ Cambridge, Dept Chem Engn & Biotechnol, Cambridge CB2 1QT, England.
[Bahn, Sabine] Erasmus MC, Dept Neurosci, NL-3015 GE Rotterdam, Netherlands.
RP Bahn, S (reprint author), Univ Cambridge, Dept Chem Engn & Biotechnol, Tennis Court Rd, Cambridge CB2 1QT, England.
EM sb209@cam.ac.uk
FU Autism Speaks Grant [6009]; Dutch Fund for Economic Structure
Reinforcement (FES) [0908]
FX This work was funded by Autism Speaks Grant #6009 and the Dutch Fund for
Economic Structure Reinforcement (FES) under grant agreement number 0908
(NeuroBasic PharmaPhenomics project).
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NR 53
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 JUL 30
PY 2014
VL 5
AR 41
DI 10.1186/2040-2392-5-41
PG 8
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AO2MX
UT WOS:000341158700002
PM 25126406
ER
PT J
AU Vasu, MM
Anitha, A
Thanseem, I
Suzuki, K
Yamada, K
Takahashi, T
Wakuda, T
Iwata, K
Tsujii, M
Sugiyama, T
Mori, N
AF Vasu, Mahesh Mundalil
Anitha, Ayyappan
Thanseem, Ismail
Suzuki, Katsuaki
Yamada, Kohei
Takahashi, Taro
Wakuda, Tomoyasu
Iwata, Keiko
Tsujii, Masatsugu
Sugiyama, Toshirou
Mori, Norio
TI Serum microRNA profiles in children with autism
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism spectrum disorder; microRNA; complementary DNA; microarray;
quantitative PCR
ID LYMPHOBLASTOID CELL-LINES; SPECTRUM DISORDERS; EXPRESSION PROFILES;
SCHIZOPHRENIA; GENE; DISEASES; DYSREGULATION; INDIVIDUALS; CANCER;
CORTEX
AB Background: As regulators of gene expression, microRNAs (miRNAs) play a key role in the transcriptional networks of the developing human brain. Circulating miRNAs in the serum and plasma are remarkably stable and are suggested to have promise as noninvasive biomarkers for neurological and neurodevelopmental disorders. We examined the serum expression profiles of neurologically relevant miRNAs in autism spectrum disorder (ASD), a complex neurodevelopmental disorder characterized by multiple deficits in communication, social interaction and behavior.
Methods: Total RNA, including miRNA, was extracted from the serum samples of 55 individuals with ASD and 55 age-and sex-matched control subjects, and the mature miRNAs were selectively converted into cDNA. Initially, the expression of 125 mature miRNAs was compared between pooled control and ASD samples. The differential expression of 14 miRNAs was further validated by SYBR Green quantitative PCR of individual samples. Receiver-operating characteristic (ROC) analysis was used to evaluate the sensitivity and specificity of miRNAs. The target genes and pathways of miRNAs were predicted using DIANA mirPath software.
Results: Thirteen miRNAs were differentially expressed in ASD individuals compared to the controls. MiR-151a-3p, miR-181b-5p, miR-320a, miR-328, miR-433, miR-489, miR-572, and miR-663a were downregulated, while miR-101-3p, miR-106b-5p, miR-130a-3p, miR-195-5p, and miR-19b-3p were upregulated. Five miRNAs showed good predictive power for distinguishing individuals with ASD. The target genes of these miRNAs were enriched in several crucial neurological pathways.
Conclusions: This is the first study of serum miRNAs in ASD individuals. The results suggest that a set of serum miRNAs might serve as a possible noninvasive biomarker for ASD.
C1 [Vasu, Mahesh Mundalil; Thanseem, Ismail; Suzuki, Katsuaki; Takahashi, Taro; Wakuda, Tomoyasu; Mori, Norio] Hamamatsu Univ Sch Med, Dept Psychiat, Higashi Ku, Hamamatsu, Shizuoka 4313192, Japan.
[Anitha, Ayyappan; Yamada, Kohei; Tsujii, Masatsugu; Mori, Norio] Hamamatsu Univ Sch Med, Res Ctr Child Mental Dev, Higashi Ku, Hamamatsu, Shizuoka 4313192, Japan.
[Iwata, Keiko] Univ Fukui, Res Ctr Child Mental Dev, Fukui 9101193, Japan.
[Tsujii, Masatsugu] Chukyo Univ, Fac Sociol, Toyota 4700393, Japan.
[Sugiyama, Toshirou] Hamamatsu Univ Sch Med, Dept Child & Adolescent Psychiat, Higashi Ku, Hamamatsu, Shizuoka 4313192, Japan.
RP Suzuki, K (reprint author), Hamamatsu Univ Sch Med, Dept Psychiat, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, Japan.
EM k-suzuki@hama-med.ac.jp
FU Takeda Science Foundation; Ministry of Education, Culture, Sports,
Science and Technology of Japan
FX We thank Mses. Mika Oyaizu and Tae Takahashi for their technical
assistance. This work was supported by the Takeda Science Foundation. It
was also supported in part by a Grant-in-Aid for 'Integrated Research on
Neuropsychiatric Disorders' carried out under the Strategic Research
Program for Brain Sciences from the Ministry of Education, Culture,
Sports, Science and Technology of Japan. None of these funding sources
played any role in the design and conduct of the study; the collection,
management, analysis, and interpretation of the data; or the
preparation, review, or approval of the manuscript.
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NR 36
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 JUL 30
PY 2014
VL 5
AR 40
DI 10.1186/2040-2392-5-40
PG 9
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AO2MX
UT WOS:000341158700001
ER
PT J
AU Chang, YS
Owen, JP
Desai, SS
Hill, SS
Arnett, AB
Harris, J
Marco, EJ
Mukherjee, P
AF Chang, Yi-Shin
Owen, Julia P.
Desai, Shivani S.
Hill, Susanna S.
Arnett, Anne B.
Harris, Julia
Marco, Elysa J.
Mukherjee, Pratik
TI Autism and Sensory Processing Disorders: Shared White Matter Disruption
in Sensory Pathways but Divergent Connectivity in Social-Emotional
Pathways
SO PLOS ONE
LA English
DT Article
ID INFERIOR LONGITUDINAL FASCICULUS; TENSOR IMAGING TRACTOGRAPHY; SPECTRUM
DISORDER; FUNCTIONAL CONNECTIVITY; HIPPOCAMPO-FUSIFORM;
AMYGDALO-FUSIFORM; CORPUS-CALLOSUM; CHILDREN; SYSTEM; FMRI
AB Over 90% of children with Autism Spectrum Disorders (ASD) demonstrate atypical sensory behaviors. In fact, hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment is now included in the DSM-5 diagnostic criteria. However, there are children with sensory processing differences who do not meet an ASD diagnosis but do show atypical sensory behaviors to the same or greater degree as ASD children. We previously demonstrated that children with Sensory Processing Disorders (SPD) have impaired white matter microstructure, and that this white matter microstructural pathology correlates with atypical sensory behavior. In this study, we use diffusion tensor imaging (DTI) fiber tractography to evaluate the structural connectivity of specific white matter tracts in boys with ASD (n = 15) and boys with SPD (n = 16), relative to typically developing children (n = 23). We define white matter tracts using probabilistic streamline tractography and assess the strength of tract connectivity using mean fractional anisotropy. Both the SPD and ASD cohorts demonstrate decreased connectivity relative to controls in parieto-occipital tracts involved in sensory perception and multisensory integration. However, the ASD group alone shows impaired connectivity, relative to controls, in temporal tracts thought to subserve social-emotional processing. In addition to these group difference analyses, we take a dimensional approach to assessing the relationship between white matter connectivity and participant function. These correlational analyses reveal significant associations of white matter connectivity with auditory processing, working memory, social skills, and inattention across our three study groups. These findings help elucidate the roles of specific neural circuits in neurodevelopmental disorders, and begin to explore the dimensional relationship between critical cognitive functions and structural connectivity across affected and unaffected children.
C1 [Chang, Yi-Shin; Owen, Julia P.; Mukherjee, Pratik] Univ Calif San Francisco, Dept Radiol & Biomed Imaging, San Francisco, CA 94143 USA.
[Desai, Shivani S.; Hill, Susanna S.; Arnett, Anne B.; Harris, Julia; Marco, Elysa J.] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94115 USA.
RP Marco, EJ (reprint author), Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94115 USA.
EM marcoe@neuropeds.ucsf.edu
FU Wallace Research Foundation; Gates Family Foundation; Holcombe Kawaja
Family Foundation; Simons Foundation; NIH [R01 NS060776, K23 MH083890,
KL2 RR024130]
FX This work was funded by grants from the Wallace Research Foundation, the
Gates Family Foundation and the Holcombe Kawaja Family Foundation. EJM,
JPO and PM acknowledge support from the Simons Foundation. PM also
acknowledges support from NIH R01 NS060776. EJM has received support
from NIH K23 MH083890 and KL2 RR024130. 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 47
TC 2
Z9 2
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 JUL 30
PY 2014
VL 9
IS 7
AR e103038
DI 10.1371/journal.pone.0103038
PG 17
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AM7EZ
UT WOS:000340028800023
PM 25075609
ER
PT J
AU Chance, SA
AF Chance, Steven A.
TI The cortical microstructural basis of lateralized cognition: a review
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Review
DE minicolumn; cytoarchitecture; lateralization; asymmetry;
face-processing; language; schizophrenia; autism
ID HUMAN AUDITORY-CORTEX; CHIMPANZEES PAN-TROGLODYTES; HUMAN PLANUM
TEMPORALE; CEREBRAL ASYMMETRY; FUSIFORM GYRUS; HOMO-SAPIENS;
HEMISPHERIC-DIFFERENCES; CATEGORICAL PERCEPTION; ALZHEIMERS-DISEASE;
HUMAN LANGUAGE
AB The presence of asymmetry in the human cerebral hemispheres is detectable at both the macroscopic and microscopic scales. The horizontal expansion of cortical surface during development (within individual brains), and across evolutionary time (between species), is largely due to the proliferation and spacing of the microscopic vertical columns of cells that form the cortex. In the asymmetric planum temporale (PT), minicolumn width asymmetry is associated with surface area asymmetry. Although the human minicolumn asymmetry is not large, it is estimated to account for a surface area asymmetry of approximately 9% of the region's size. Critically, this asymmetry of minicolumns is absent in the equivalent areas of the brains of other apes. The left-hemisphere dominance for processing speech is thought to depend, partly, on a bias for higher resolution processing across widely spaced minicolumns with less overlapping dendritic fields, whereas dense minicolumn spacing in the right hemisphere is associated with more overlapping, lower resolution, holistic processing. This concept refines the simple notion that a larger brain area is associated with dominance for a function and offers an alternative explanation associated with "processing type." This account is mechanistic in the sense that it offers a mechanism whereby asymmetrical components of structure are related to specific functional biases yielding testable predictions, rather than the generalization that "bigger is better" for any given function. Face processing provides a test case it is the opposite of language, being dominant in the right hemisphere. Consistent with the bias for holistic, configural processing of faces, the minicolumns in the right-hemisphere fusiform gyrus are thinner than in the left hemisphere, which is associated with featural processing. Again, this asymmetry is not found in chimpanzees. The difference between hemispheres may also be seen in terms of processing speed, facilitated by asymmetric myelination of white matter tracts (Anderson etal., 1999 found that axons of the left posterior superior temporal lobe were more thickly myelinated). By cross-referencing the differences between the active fields of the two hemispheres, via tracts such as the corpus callosum, the relationship of local features to global features may be encoded. The emergent hierarchy of features within features is a recursive structure that may functionally contribute to generativity the ability to perceive and express layers of structure and their relations to each other. The inference is that recursive generativity, an essential component of language, reflects an interaction between processing biases that may be traceable in the microstructure of the cerebral cortex. Minicolumn organization in the PT and the prefrontal cortex has been found to correlate with cognitive scores in humans. Altered minicolumn organization is also observed in neuropsychiatric disorders including autism and schizophrenia. Indeed, altered interhemispheric connections correlated with minicolumn asymmetry in schizophrenia may relate to language-processing anomalies that occur in the disorder. Schizophrenia is associated with over-interpretation of word meaning at the semantic level and over-interpretation of relevance at the level of pragmatic competence, whereas autism is associated with overly literal interpretation of word meaning and under-interpretation of social relevance at the pragmatic level.
Both appear to emerge from a disruption of the ability to interpret layers of meaning and their relations to each other. This may be a consequence of disequilibrium in the processing of local and global features related to disorganization of minicolumnar units of processing.
C1 [Chance, Steven A.] Univ Oxford, Nuffield Dept Clin Neurosci, Neuroanat & Cognit Grp, Oxford OX3 9DU, England.
RP Chance, SA (reprint author), Univ Oxford, John Radcliffe Hosp, Nuffield Dept Clin Neurosci, Neuroanat & Cognit Grp, Level 1, Oxford OX3 9DU, England.
EM steven.chance@ndcn.ox.ac.uk
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NR 89
TC 2
Z9 2
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD JUL 30
PY 2014
VL 5
AR 820
DI 10.3389/fpsyg.2014.00820
PG 8
WC Psychology, Multidisciplinary
SC Psychology
GA AM4ID
UT WOS:000339816300001
PM 25126082
ER
PT J
AU Fujiwara, T
Kawachi, I
AF Fujiwara, T.
Kawachi, I
TI Are Maternal Social Networks and Perceptions of Trust Associated with
Suspected Autism Spectrum Disorder in Offspring? A Population-Based
Study in Japan (vol 9, e101359, 2014)
SO PLOS ONE
LA English
DT Correction
CR Fujiwara T, 2014, PLOS ONE, V9, DOI 10.1371/journal.pone.0101359
NR 1
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 JUL 28
PY 2014
VL 9
IS 7
AR e104332
DI 10.1371/journal.pone.0101359.t003
PG 2
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AM6RZ
UT WOS:000339993700098
ER
PT J
AU Kim, GE
Kaczmarek, LK
AF Kim, Grace E.
Kaczmarek, Leonard K.
TI Emerging role of the KCNT1 Slack channel in intellectual disability
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Review
DE Slack; KCNT1; intellectual disability; Fragile X syndrome; epilepsy
ID MIGRATING PARTIAL SEIZURES; INFANTILE EPILEPTIC ENCEPHALOPATHY;
FRONTAL-LOBE EPILEPSY; MENTAL-RETARDATION PROTEIN; ACTIVATED POTASSIUM
CHANNELS; FRAGILE-X-SYNDROME; K-NA CHANNELS; SENSORIMOTOR CORTEX
INVITRO; FAMILIAL OHTAHARA SYNDROME; OLIVARY-DENTATE DYSPLASIA
AB The sodium-activated potassium K-Na channels Slack and Slick are encoded by KCNT1 and KCNT2, respectively. These channels are found in neurons throughout the brain, and are responsible for a delayed outward current termed /(KNa). These currents integrate into shaping neuronal excitability, as well as adaptation in response to maintained stimulation. Abnormal Slack channel activity may play a role in Fragile X syndrome, the most common cause for intellectual disability and inherited autism. Slack channels interact directly with the fragile X mental retardation protein (FMRP) and /(KNa) is reduced in animal models of Fragile X syndrome that lack FMRP. Human Slack mutations that alter channel activity can also lead to intellectual disability, as has been found for several childhood epileptic disorders. Ongoing research is elucidating the relationship between mutant Slack channel activity, development of early onset epilepsies and intellectual impairment. This review describes the emerging role of Slack channels in intellectual disability, coupled with an overview of the physiological role of neuronal (/KNa) currents.
C1 [Kaczmarek, Leonard K.] Yale Univ, Sch Med, Dept Pharmacol, New Haven, CT 06520 USA.
[Kaczmarek, Leonard K.] Yale Univ, Sch Med, Dept Cellular & Mol Physiol, New Haven, CT 06520 USA.
RP Kaczmarek, LK (reprint author), Yale Univ, Sch Med, Dept Pharmacol, 333 Cedar St, New Haven, CT 06520 USA.
EM leonard.kaczmarek@yale.edu
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NR 134
TC 6
Z9 6
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 JUL 28
PY 2014
VL 8
AR 209
DI 10.3389/fnce1.2014.00209
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AM2AO
UT WOS:000339650700001
PM 25120433
ER
PT J
AU Rabaneda, LG
Robles-Lanuza, E
Nieto-Gonzalez, JL
Scholl, FG
AF Rabaneda, Luis G.
Robles-Lanuza, Estefania
Nieto-Gonzalez, Jose Luis
Scholl, Francisco G.
TI Neurexin Dysfunction in Adult Neurons Results in Autistic-like Behavior
in Mice
SO CELL REPORTS
LA English
DT Article
ID SYNAPTIC VESICLE EXOCYTOSIS; MENTAL-RETARDATION; ALPHA-NEUREXINS;
BETA-NEUREXINS; CELL-ADHESION; MUTATIONS; SYNAPSES; SPECTRUM; GENE;
NEUROLIGIN-1
AB Autism spectrum disorders (ASDs) comprise a group of clinical phenotypes characterized by repetitive behavior and social and communication deficits. Autism is generally viewed as a neurodevelopmental disorder where insults during embryonic or early postnatal periods result in aberrant wiring and function of neuronal circuits. Neurexins are synaptic proteins associated with autism. Here, we generated transgenic beta Nrx1 Delta C mice in which neurexin function is selectively impaired during late postnatal stages. Whole-cell recordings in cortical neurons show an impairment of glutamatergic synaptic transmission in the beta Nrx1 Delta C mice. Importantly, mutant mice exhibit autism-related symptoms, such as increased self-grooming, deficits in social interactions, and altered interaction for nonsocial olfactory cues. The autistic-like phenotype of beta Nrx1 Delta C mice can be reversed after removing the mutant protein in aged animals. The defects resulting from disruption of neurexin function after the completion of embryonic and early postnatal development suggest that functional impairment of mature circuits can trigger autism-related phenotypes.
C1 [Rabaneda, Luis G.; Robles-Lanuza, Estefania; Nieto-Gonzalez, Jose Luis; Scholl, Francisco G.] Univ Seville, CSIC, Hosp Univ Virgen Rocio, Inst Biomed Sevilla IBiS, Seville 41013, Spain.
[Rabaneda, Luis G.; Robles-Lanuza, Estefania; Nieto-Gonzalez, Jose Luis; Scholl, Francisco G.] Univ Seville, Dept Fisiol Med & Biofis, Seville 41013, Spain.
[Nieto-Gonzalez, Jose Luis] Ctr Invest Biomed Red Enfermedade Meurodegenerat, Seville 41013, Spain.
RP Scholl, FG (reprint author), Univ Seville, CSIC, Hosp Univ Virgen Rocio, Inst Biomed Sevilla IBiS, Ave Manuel Siurot S-N, Seville 41013, Spain.
EM fgs@us.es
RI Nieto-Gonzalez, Jose/B-7165-2013
OI Nieto-Gonzalez, Jose/0000-0003-1757-4951
FU NEURONERANET (EUHF-AUTISM) [PIM2010ERN-0070]; Instituto de Salud Carlos
III [PI111058]; Junta de Andalucia [P11-CVI-7599]; V Plan Propio de
Investigacion (Universidad de Sevilla); Juan de la Cierva MINECO
contract
FX Research at the F.G.S. lab was funded by grants from NEURONERANET
(EUHF-AUTISM, PIM2010ERN-0070), Instituto de Salud Carlos III
(PI111058), and Junta de Andalucia (P11-CVI-7599). We thank Dr. Leon
Lagnado (University of Sussex) for the generous gift of the sypHy
construct, Dr. Oscar Pintado for pronuclear injection, Dr. Angel Barco
for helpful advice with bitransgenic mice, and Dr. Maria Luz Montesinos
and Itziar Benito for assistance with some behavioral tests. Technical
assistance during the generation of transgenic mice was provided by
Maria Luisa Pecero. The authors wish to thank Drs. Rafael
Fernandez-Chacon and Amalia Martinez-Mir for support and critical
reading of the manuscript. E. R-L received a fellowship from V Plan
Propio de Investigacion (Universidad de Sevilla), and J.L.N.-G is a
recipient of a Juan de la Cierva MINECO contract. Part of the study was
performed at CITIUS (Universidad de Sevilla).
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NR 46
TC 1
Z9 1
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 JUL 24
PY 2014
VL 8
IS 2
BP 337
EP 345
DI 10.1016/j.celrep.2014.06.022
PG 9
WC Cell Biology
SC Cell Biology
GA AO7YT
UT WOS:000341569800003
PM 25017069
ER
PT J
AU Pandya, CD
Pillai, A
AF Pandya, Chirayu D.
Pillai, Anilkumar
TI TrkB interacts with ErbB4 and regulates NRG1-induced NR2B
phosphorylation in cortical neurons before synaptogenesis
SO CELL COMMUNICATION AND SIGNALING
LA English
DT Article
DE NRG1; BDNF; TrkB; Neurons; Synapse; NR2B
ID RAT VISUAL-CORTEX; NMDA RECEPTOR; NEUROTROPHIC FACTOR; PREFRONTAL
CORTEX; SCHIZOPHRENIA; BRAIN; BDNF; EXPRESSION; NEUREGULIN-1; CELLS
AB Background: Neuregulin 1 (NRG1) and NMDARs play important roles in various neuronal functions including neural development. NMDARs also promote many cellular events such as proliferation and survival of neuroblasts before synapse formation. Although many recent studies have indicated that NRG1 regulates NMDAR function in cortical neurons, the effect of NRG1 on NMDAR activation before synapse formation is not well studied.
Results: NRG1 induces activation of NMDAR subunit NR2B, and tropomyosin- related kinase receptor B (TrkB), the receptor for BDNF via activation of phospholipase C-gamma (PLC-gamma) in immature primary cortical neurons. Our data using TrkB inhibitor (K252a), TrkB siRNA and TrkB-/- neurons demonstrated that TrkB inhibition suppresses NRG1-induced NR2B activation in neurons. We found that NRG1 stimulation leads to GABA(A) receptor-mediated TrkB activation. Co-immunoprecipitation and proximity ligase assay showed that TrkB interacts with ErbB4 (NRG1 receptor) and the TrkB-ErbB4 interaction was increased following NRG1 treatment. A significant reduction in TrkB-ErbB4 interaction was observed in the prefrontal cortex of schizophrenia subjects. We found significant increase in released BDNF levels following NRG1 treatment, which was inhibited by ErbB4 inhibitor, AG1478. In addition, pretreatment with BDNF neutralizing antibody, but not control IgG abolished NRG1- induced increases in phospho-TrkB and phospho-NR2B levels. Moreover, studies using TrkB mutants showed that intercellular domain of TrkB is necessary for TrkB-ErbB4 interaction and NR2B activation.
Conclusions: BDNF/TrkB signaling plays an important role in the NRG1- stimulated NR2B regulation. These findings could be of relevance to many neurodevelopmental disorders, as NRG1 and BDNF signaling pathways have been implicated in autism and schizophrenia.
C1 [Pandya, Chirayu D.; Pillai, Anilkumar] Georgia Regents Univ, Med Coll Georgia, Dept Psychiat & Hlth Behav, Augusta, GA 30901 USA.
RP Pillai, A (reprint author), Georgia Regents Univ, Med Coll Georgia, Dept Psychiat & Hlth Behav, 997 St Sebastian Way, Augusta, GA 30901 USA.
EM apillai@gru.edu
FU NINDS/NIH; National Multiple Sclerosis Society; Department of Veteran
Affairs
FX We thank Dr. Chao (New York University School of Medicine, New York) for
the phospho-TrkB antibody and Dr. Maruyama (Okinawa Institute of Science
and Technology, Japan) for the TrkB constructs. The authors are thankful
to Dr. Rohrer (Medical University of South Carolina, SC) for the TrkB
knockout mice. The authors would also like to acknowledge the Human
Brain and Spinal Fluid Resource Center, VA West Los Angeles Healthcare
Center, 11301 Wilshire Blvd. Los Angeles, CA 90073 which is supported by
NINDS/NIH, National Multiple Sclerosis Society, and Department of
Veteran Affairs.
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NR 41
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1478-811X
J9 CELL COMMUN SIGNAL
JI Cell Commun. Signal.
PD JUL 24
PY 2014
VL 12
AR 47
DI 10.1186/s12964-014-0047-9
PG 11
WC Cell Biology
SC Cell Biology
GA AM4RW
UT WOS:000339844000001
PM 25052836
ER
PT J
AU Zhao, H
Kim, Y
Park, J
Park, D
Lee, SE
Chang, I
Chang, S
AF Zhao, Haiyan
Kim, Yoonju
Park, Joohyun
Park, Daehun
Lee, Sang-Eun
Chang, Iree
Chang, Sunghoe
TI SCAMP5 Plays a Critical Role in Synaptic Vesicle Endocytosis during High
Neuronal Activity
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE neuronal activity; recycling pool; resting pool; SCAMP5; synaptic
vesicle endocytosis
ID CARRIER MEMBRANE-PROTEIN; HIPPOCAMPAL SYNAPSES; PC12 CELLS; EXOCYTOSIS;
SYNAPTOPHYSIN; POOL; KINETICS; RELEASE; NEUROTRANSMISSION; TRAFFICKING
AB Secretory carrier membrane protein 5 (SCAMP5), a recently identified candidate gene for autism, is brain specific and highly abundant in synaptic vesicles (SVs), but its function is currently unknown. Here, we found that knockdown (KD) of endogenous SCAMP5 by SCAMP5-specific shRNAs in cultured rat hippocampal neurons resulted in a reduction in total vesicle pool size as well as in recycling pool size, but the recycling/resting pool ratio was significantly increased. SCAMP5 KD slowed endocytosis after stimulation, but impaired it severely during strong stimulation. We also found that KD dramatically lowered the threshold of activity at which SV endocytosis became unable to compensate for the ongoing exocytosis occurring during a stimulus. Reintroducing shRNA-resistant SCAMP5 reversed these endocytic defects. Therefore, our results suggest that SCAMP5 functions during high neuronal activity when a heavy load is imposed on endocytosis. Our data also raise the possibility that the reduction in expression of SCAMP5 in autistic patients may be related to the synaptic dysfunction observed in autism.
C1 [Zhao, Haiyan; Kim, Yoonju; Park, Joohyun; Park, Daehun; Lee, Sang-Eun; Chang, Iree; Chang, Sunghoe] Seoul Natl Univ, Coll Med, Dept Physiol & Biomed Sci, Seoul 110799, South Korea.
[Zhao, Haiyan; Kim, Yoonju; Park, Joohyun; Park, Daehun; Lee, Sang-Eun; Chang, Sunghoe] Seoul Natl Univ, Coll Med, Biomembrane Plast Res Ctr, Seoul 110799, South Korea.
[Kim, Yoonju; Park, Joohyun; Chang, Sunghoe] Seoul Natl Univ, Coll Med, Neurosci Res Inst, Med Res Ctr, Seoul 110799, South Korea.
[Chang, Sunghoe] Seoul Natl Univ, Coll Med, Biomax Inst, Seoul 110799, South Korea.
RP Chang, S (reprint author), Seoul Natl Univ, Coll Med, Dept Physiol, 309 Biomed Sci Bldg,28 Yeongeon Dong, Seoul 110799, South Korea.
EM sunghoe@snu.ac.kr
FU Biomembrane Plasticity Research Center - National Research Foundation of
Korea [20100029395]
FX This work was supported by the Biomembrane Plasticity Research Center
funded by the National Research Foundation of Korea (Grant 20100029395
to S.C.).
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NR 41
TC 1
Z9 1
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 JUL 23
PY 2014
VL 34
IS 30
BP 10085
EP 10095
DI 10.1523/JNEUROSCI.2156-14.2014
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AO0LV
UT WOS:000341001600025
PM 25057210
ER
PT J
AU Matsuzaki, J
Kagitani-Shimono, K
Sugata, H
Hirata, M
Hanaie, R
Nagatani, F
Tachibana, M
Tominaga, K
Mohri, I
Taniike, M
AF Matsuzaki, Junko
Kagitani-Shimono, Kuriko
Sugata, Hisato
Hirata, Masayuki
Hanaie, Ryuzo
Nagatani, Fumiyo
Tachibana, Masaya
Tominaga, Koji
Mohri, Ikuko
Taniike, Masako
TI Progressively Increased M50 Responses to Repeated Sounds in Autism
Spectrum Disorder with Auditory Hypersensitivity: A
Magnetoencephalographic Study
SO PLOS ONE
LA English
DT Article
ID HIGH-FUNCTIONING AUTISM; STARTLE CIRCUIT; MEG; SCHIZOPHRENIA; CHILDREN;
LATERALIZATION; EXCITABILITY; TRANSPORTER; DYSFUNCTION; SEROTONIN
AB The aim of this study was to investigate the differential time-course responses of the auditory cortex to repeated auditory stimuli in children with autism spectrum disorder (ASD) showing auditory hypersensitivity. Auditory-evoked field values were obtained from 21 boys with ASD (12 with and 9 without auditory hypersensitivity) and 15 age-matched typically developing controls. M50 dipole moments were significantly increased during the time-course study only in the ASD with auditory hypersensitivity compared with those for the other two groups. The boys having ASD with auditory hypersensitivity also showed more prolonged response duration than those in the other two groups. The response duration was significantly related to the severity of auditory hypersensitivity. We propose that auditory hypersensitivity is associated with decreased inhibitory processing, possibly resulting from an abnormal sensory gating system or dysfunction of inhibitory interneurons.
C1 [Matsuzaki, Junko; Nagatani, Fumiyo; Tachibana, Masaya; Mohri, Ikuko; Taniike, Masako] Osaka Univ, Grad Sch Med, United Grad Sch Child Dev, Mol Res Ctr Childrens Mental Dev, Osaka, Japan.
[Kagitani-Shimono, Kuriko; Hanaie, Ryuzo; Tachibana, Masaya; Tominaga, Koji; Mohri, Ikuko; Taniike, Masako] Osaka Univ, Grad Sch Med, United Grad Sch Child Dev, Osaka, Japan.
[Kagitani-Shimono, Kuriko; Tachibana, Masaya; Tominaga, Koji; Mohri, Ikuko; Taniike, Masako] Osaka Univ, Grad Sch Med, Dept Pediat, Osaka, Japan.
[Sugata, Hisato; Hirata, Masayuki] Osaka Univ, Grad Sch Med, Dept Neurosurg, Osaka, Japan.
RP Kagitani-Shimono, K (reprint author), Osaka Univ, Grad Sch Med, United Grad Sch Child Dev, Osaka, Japan.
EM kuriko@ped.med.osaka-u.ac.jp
FU Ministry of Education, Culture, Sports, Science and Technology (MEXT)
[23591494]
FX This study was supported by a grant-in-aid for scientific research (No.
23591494) from Ministry of Education, Culture, Sports, Science and
Technology (MEXT). The funders had no role in study design, data
collection and analysis, decision to publish, or preparation of the
manuscript.
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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 JUL 23
PY 2014
VL 9
IS 7
AR e102599
DI 10.1371/journal.pone.0102599
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AM1NT
UT WOS:000339614100042
PM 25054201
ER
PT J
AU O'Brien, J
Spencer, J
Girges, C
Johnston, A
Hill, H
AF O'Brien, Justin
Spencer, Janine
Girges, Christine
Johnston, Alan
Hill, Harold
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SO PLOS ONE
LA English
DT Article
ID TYPICALLY DEVELOPING-CHILDREN; SUPERIOR TEMPORAL SULCUS; BIOLOGICAL
MOTION; VISUAL-MOTION; UNFAMILIAR FACES; DYNAMIC CHANGES; MOVING FACES;
RECOGNITION; INVERSION; IDENTITY
AB Facial motion is a special type of biological motion that transmits cues for socio-emotional communication and enables the discrimination of properties such as gender and identity. We used animated average faces to examine the ability of adults with autism spectrum disorders (ASD) to perceive facial motion. Participants completed increasingly difficult tasks involving the discrimination of (1) sequences of facial motion, (2) the identity of individuals based on their facial motion and (3) the gender of individuals. Stimuli were presented in both upright and upside-down orientations to test for the difference in inversion effects often found when comparing ASD with controls in face perception. The ASD group's performance was impaired relative to the control group in all three tasks and unlike the control group, the individuals with ASD failed to show an inversion effect. These results point to a deficit in facial biological motion processing in people with autism, which we suggest is linked to deficits in lower level motion processing we have previously reported.
C1 [O'Brien, Justin; Spencer, Janine; Girges, Christine] Brunel Univ, Dept Psychol, Ctr Res Infant Behav, Uxbridge UB8 3PH, Middx, England.
[Johnston, Alan] UCL, London, England.
[Hill, Harold] Univ Wollongong, Sch Psychol, Wollongong, NSW, Australia.
RP Spencer, J (reprint author), Brunel Univ, Dept Psychol, Ctr Res Infant Behav, Uxbridge UB8 3PH, Middx, England.
EM janine.spencer@brunel.ac.uk
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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 JUL 23
PY 2014
VL 9
IS 7
AR e102173
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PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
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PM 25054288
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LA English
DT Editorial Material
DE creativity; intelligence; psychosis; autism; abductive; deductive;
default mode
ID GENERAL INTELLIGENCE; BLIND VARIATION; DISORDERS; MODEL
C1 Univ New Mexico, Dept Neurosurg, Albuquerque, NM 87131 USA.
RP Jung, RE (reprint author), Univ New Mexico, Dept Neurosurg, Albuquerque, NM 87131 USA.
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NR 26
TC 3
Z9 3
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD JUL 23
PY 2014
VL 5
AR 784
DI 10.3389/fpsyg.2014.00784
PG 3
WC Psychology, Multidisciplinary
SC Psychology
GA AL8NV
UT WOS:000339396900001
PM 25101040
ER
PT J
AU Iijima, K
Ota, K
AF Iijima, Kazuki
Ota, Koji
TI How (not) to draw philosophical implications from the cognitive nature
of concepts: the case of intentionality
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE experimental philosophy; normativism; descriptivism; Knobe effect;
intentionality; theory of mind
ID MORAL RESPONSIBILITY; ORDINARY LANGUAGE; FOLK INTUITIONS; AUTISM;
JUDGMENT; MIND
AB Philosophers have often appealed to intuitive judgments in various thought experiments to support or reject particular theses. Experimental philosophy is an emerging discipline that examines the cognitive nature of such intuitive judgments. In this paper, we assess the methodological and epistemological status of experimental philosophy. We focus on the Knobe effect, in which our intuitive judgment of the intentionality of an action seems to depend on the perceived moral status of that action. The debate on the philosophical implications of the Knobe effect has been framed in terms of the distinction between the competence and performance of the concept of intentionality. Some scholars seem to suggest that the Knobe effect reflects the competence (or otherwise, the performance error) of the concept of intentionality. However, we argue that these notions are purely functional and thus do not have philosophical implications, without assuming normativism, which we see as problematic in a psychological methodology. Finally, focusing on the gap between competence and rationality, we suggest future directions for experimental philosophy.
C1 [Iijima, Kazuki] Tamagawa Univ, Brain Sci Inst, Machida, Tokyo 1948610, Japan.
[Iijima, Kazuki] Japan Soc Promot Sci, Tokyo, Japan.
[Ota, Koji] Univ Tokyo, Grad Sch Arts Sci, Dept Basic Sci, Tokyo, Japan.
RP Iijima, K (reprint author), Tamagawa Univ, Brain Sci Inst, 6-1-1 Tamagawa Gakuen, Machida, Tokyo 1948610, Japan.
EM iijima.kazuki@14.alumni.u-tokyo.ac.jp
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NR 44
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 JUL 22
PY 2014
VL 5
AR 799
DI 10.3389/fpsyg.2014.00799
PG 5
WC Psychology, Multidisciplinary
SC Psychology
GA AL8NO
UT WOS:000339396200001
PM 25101045
ER
PT J
AU Albertini, B
Di Sabatino, M
Melegari, C
Passerini, N
AF Albertini, Beatrice
Di Sabatino, Marcello
Melegari, Cecilia
Passerini, Nadia
TI Formulating SLMs as oral pulsatile system for potential delivery of
melatonin to pediatric population
SO INTERNATIONAL JOURNAL OF PHARMACEUTICS
LA English
DT Article
DE Melatonin; Solid-lipid microparticles; Spray congealing; Oral pediatric
formulation; Dose flexibility; Stability in food
ID CONTROLLED-RELEASE MELATONIN; CHILDREN; SLEEP; DISORDERS; AUTISM;
MEDICINES; ATOMIZER; ENHANCE
AB The formulation development of melatonin (MLT) for infants and children with neurodevelopmental difficulties was fully investigated. This population have a higher prevalence of sleep disorders and present special challenges for drug administration and swallowing. To solve these issues, solid lipid microparticles (SLMs) were designed to obtain an oral flexible dosage form constituted by GRAS excipients and a free flow pulsatile delivery system for MLT, able to maintain its release through 8 h. Three groups of SLMs were produced by spray congealing and characterized as regards particle size, morphology, flowability, solid state, drug content and release behavior. The SLMs manipulation with milk and yogurt and the MLT stability in these foods were also investigated. Microparticles with different excipient composition were selected to obtain a pulsatile release pattern over 8 h. The final delivery platform displayed a prompt release from group I SLMs together with a lag phase of groups II and III SLMs, followed by a repeated MLT release from group II and a prolonged MLT release related to the last group. Finally, MLT was compatible and stable in milk and yogurt suggesting that microparticles sprinkled into food is acceptable for MLT administration to children unable to swallow capsules or tablets. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Albertini, Beatrice; Di Sabatino, Marcello; Melegari, Cecilia; Passerini, Nadia] Univ Bologna, Dept Pharm & Biotechnol, I-40127 Bologna, Italy.
RP Albertini, B (reprint author), Univ Bologna, Dept Pharm & Biotechnol, Via San Donato 19-2, I-40127 Bologna, Italy.
EM beatrice.albertini@unibo.it
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NR 34
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-5173
EI 1873-3476
J9 INT J PHARMACEUT
JI Int. J. Pharm.
PD JUL 20
PY 2014
VL 469
IS 1
BP 67
EP 79
DI 10.1016/j.ijpharm.2014.04.055
PG 13
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AH9TZ
UT WOS:000336487500009
PM 24768728
ER
PT J
AU Fan, YT
Cheng, YW
AF Fan, Yang-Teng
Cheng, Yawei
TI Atypical Mismatch Negativity in Response to Emotional Voices in People
with Autism Spectrum Conditions
SO PLOS ONE
LA English
DT Article
ID EVENT-RELATED POTENTIALS; ASPERGER-SYNDROME; FUNCTIONING AUTISM; BRAIN
POTENTIALS; CHILDREN; SPEECH; PERCEPTION; ATTENTION; DISCRIMINATION;
DISORDER
AB Autism Spectrum Conditions (ASC) are characterized by heterogeneous impairments of social reciprocity and sensory processing. Voices, similar to faces, convey socially relevant information. Whether voice processing is selectively impaired remains undetermined. This study involved recording mismatch negativity (MMN) while presenting emotionally spoken syllables dada and acoustically matched nonvocal sounds to 20 subjects with ASC and 20 healthy matched controls. The people with ASC exhibited no MMN response to emotional syllables and reduced MMN to nonvocal sounds, indicating general impairments of affective voice and acoustic discrimination. Weaker angry MMN amplitudes were associated with more autistic traits. Receiver operator characteristic analysis revealed that angry MMN amplitudes yielded a value of 0.88 (p<.001). The results suggest that people with ASC may process emotional voices in an atypical fashion already at the automatic stage. This processing abnormality can facilitate diagnosing ASC and enable social deficits in people with ASC to be predicted.
C1 [Fan, Yang-Teng; Cheng, Yawei] Natl Yang Ming Univ, Inst Neurosci, Taipei 112, Taiwan.
[Fan, Yang-Teng; Cheng, Yawei] Natl Yang Ming Univ, Brain Res Ctr, Taipei 112, Taiwan.
[Cheng, Yawei] Natl Yang Ming Univ Hosp, Dept Rehabil, Yilan, Taiwan.
[Cheng, Yawei] Taipei City Hosp, Dept Res & Educ, Taipei, Taiwan.
RP Cheng, YW (reprint author), Natl Yang Ming Univ, Inst Neurosci, Taipei 112, Taiwan.
EM ywcheng2@ym.edu.tw
FU Ministry of Science and Technology [MOST 103-2401-H-010-003-MY3];
National Yang-Ming University Hospital [RD2014-003]; Health Department
of Taipei City Government [10301-62-009]; Ministry of Education (Aim for
the Top University Plan)
FX The study was funded by the Ministry of Science and Technology (MOST
103-2401-H-010-003-MY3), National Yang-Ming University Hospital
(RD2014-003), Health Department of Taipei City Government
(10301-62-009), and Ministry of Education (Aim for the Top University
Plan). The funders had no role in the study design, data collection and
analyses, decision to publish, or preparation of the manuscript.
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NR 67
TC 2
Z9 2
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 JUL 18
PY 2014
VL 9
IS 7
AR e102471
DI 10.1371/journal.pone.0102471
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AM1OC
UT WOS:000339615200061
PM 25036143
ER
PT J
AU Michelas, A
Faget, C
Portes, C
Lienhart, AS
Boyer, L
Lancon, C
Champagne-Lavau, M
AF Michelas, Amandine
Faget, Catherine
Portes, Cristel
Lienhart, Anne-Sophie
Boyer, Laurent
Lancon, Christophe
Champagne-Lavau, Maud
TI Do patients with schizophrenia use prosody to encode contrastive
discourse status?
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE prosodic phrasing; contrastive discourse status; theory of mind; social
interaction; attribution of knowledge; schizophrenia; French
ID SOCIAL COGNITION; MIND DEFICITS; PEOPLE; POOR; METAANALYSIS;
RECOGNITION; ATTRIBUTION; PERCEPTION; LANGUAGE; AUTISM
AB Patients with schizophrenia (SZ) often display social cognition disorders, including Theory of Mind (ToM) impairments and communication disruptions. Thought language disorders appear to be primarily a disruption of pragmatics, SZ can also experience difficulties at other linguistic levels including the prosodic one. Here, using an interactive paradigm, we showed that SZ individuals did not use prosodic phrasing to encode the contrastive status of discourse referents in French. We used a semi-spontaneous task to elicit noun-adjective pairs in which the noun in the second noun-adjective fragment was identical to the noun in the first fragment (e.g., BONBONS marron "brown candies" vs. BONBONS violets "purple candies") or could contrast with it (e.g., BOUGIES violettes "purple candles" vs. BONBONS violets "purple candies"). We found that healthy controls parsed the target noun in the second noun-adjective fragment separately from the color adjective, to warn their interlocutor that this noun constituted a contrastive entity (e.g., BOUGIES violettes followed by [BONBONS] [violets]) compared to when it referred to the same object as in the first fragment (e.g., BONBONS marron followed by [BONBONS violets]). On the contrary, SZ individuals did not use prosodic phrasing to encode contrastive status of target nouns. In addition, SZ's difficulties to use prosody of contrast were correlated to their score in a classical ToM task (i.e., the hinting task). Taken together, our data provide evidence that SZ patients exhibit difficulties to prosodically encode discourse statuses and sketch a potential relationship between ToM and the use of linguistic prosody.
C1 [Michelas, Amandine; Portes, Cristel; Lienhart, Anne-Sophie; Champagne-Lavau, Maud] Aix Marseille Univ, CNRS, UMR 7309, LPL, Aix En Provence, France.
[Faget, Catherine; Boyer, Laurent; Lancon, Christophe] Aix Marseille Univ, EA Publ Hlth 3279, Chron Dis & Qual Life Res Unit, Marseille, France.
[Faget, Catherine; Boyer, Laurent; Lancon, Christophe] St Marguerite Univ Hosp, Dept Psychiat, Marseille, France.
RP Michelas, A (reprint author), Lab Parole & Langage, 5 Ave Pasteur,BP 80975, F-13100 Aix En Provence, France.
EM michelas@lpl-aix.fr
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NR 66
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 JUL 18
PY 2014
VL 5
AR 755
DI 10.3389/fpsyg.2014.00755
PG 13
WC Psychology, Multidisciplinary
SC Psychology
GA AL4QY
UT WOS:000339118800001
PM 25101025
ER
PT J
AU Bernier, R
Golzio, C
Xiong, B
Stessman, HA
Coe, BP
Penn, O
Witherspoon, K
Gerdts, J
Baker, C
Vulto-van Silfhout, AT
Schuurs-Hoeijmakers, JH
Fichera, M
Bosco, P
Buono, S
Alberti, A
Failla, P
Peeters, H
Steyaert, J
Vissers, LELM
Francescatto, L
Mefford, HC
Rosenfeld, JA
Bakken, T
O'Roak, BJ
Pawlus, M
Moon, R
Shendure, J
Amaral, DG
Lein, E
Rankin, J
Romano, C
de Vries, BBA
Katsanis, N
Eichler, EE
AF Bernier, Raphael
Golzio, Christelle
Xiong, Bo
Stessman, Holly A.
Coe, Bradley P.
Penn, Osnat
Witherspoon, Kali
Gerdts, Jennifer
Baker, Carl
Vulto-van Silfhout, Anneke T.
Schuurs-Hoeijmakers, Janneke H.
Fichera, Marco
Bosco, Paolo
Buono, Serafino
Alberti, Antonino
Failla, Pinella
Peeters, Hilde
Steyaert, Jean
Vissers, Lisenka E. L. M.
Francescatto, Ludmila
Mefford, Heather C.
Rosenfeld, Jill A.
Bakken, Trygve
O'Roak, Brian J.
Pawlus, Matthew
Moon, Randall
Shendure, Jay
Amaral, David G.
Lein, Ed
Rankin, Julia
Romano, Corrado
de Vries, Bert B. A.
Katsanis, Nicholas
Eichler, Evan E.
TI Disruptive CHD8 Mutations Define a Subtype of Autism Early in
Development
SO CELL
LA English
DT Article
ID DE-NOVO MUTATIONS; SPECTRUM DISORDERS; CHARGE-SYNDROME; HEART-DISEASE;
GENE; ZEBRAFISH; ABNORMALITIES; ASSOCIATION; EXPRESSION; CHILDREN
AB Autism spectrum disorder (ASD) is a heterogeneous disease in which efforts to define subtypes behaviorally have met with limited success. Hypothesizing that genetically based subtype identification may prove more productive, we resequenced the ASD-associated gene CHD8 in 3,730 children with developmental delay or ASD. We identified a total of 15 independent mutations; no truncating events were identified in 8,792 controls, including 2,289 unaffected siblings. In addition to a high likelihood of an ASD diagnosis among patients bearing CHD8 mutations, characteristics enriched in this group included macrocephaly, distinct faces, and gastrointestinal complaints. chd8 disruption in zebrafish recapitulates features of the human phenotype, including increased head size as a result of expansion of the forebrain/midbrain and impairment of gastrointestinal motility due to a reduction in postmitotic enteric neurons. Our findings indicate that CHD8 disruptions define a distinct ASD subtype and reveal unexpected comorbidities between brain development and enteric innervation.
C1 [Bernier, Raphael; Gerdts, Jennifer] Univ Washington, Dept Psychiat, Seattle, WA 98195 USA.
[Golzio, Christelle; Francescatto, Ludmila; Katsanis, Nicholas] Duke Univ, Med Ctr, Ctr Human Dis Modeling, Durham, NC 27710 USA.
[Xiong, Bo; Coe, Bradley P.; Penn, Osnat; Witherspoon, Kali; Baker, Carl; Shendure, Jay; Eichler, Evan E.] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA.
[Vulto-van Silfhout, Anneke T.; Schuurs-Hoeijmakers, Janneke H.; de Vries, Bert B. A.] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands.
[Fichera, Marco; Bosco, Paolo; Buono, Serafino; Alberti, Antonino; Failla, Pinella; Romano, Corrado] IRCCS Associaz Oasi Maria Santissima, I-94018 Troina, Italy.
[Fichera, Marco] Univ Catania, I-95123 Catania, Italy.
[Peeters, Hilde] Katholieke Univ Leuven, Univ Hosp Leuven, Ctr Human Genet, B-3000 Leuven, Belgium.
[Peeters, Hilde; Steyaert, Jean] Leuven Autism Res LAuRes, B-3000 Leuven, Belgium.
[Steyaert, Jean] Katholieke Univ Leuven, Dept Child & Adolescent Psychiat, B-3000 Leuven, Belgium.
[Steyaert, Jean] Maastricht Univ, Acad Hosp Maastricht, Dept Clin Genet, NL-6200 MD Maastricht, Netherlands.
[Steyaert, Jean] Maastricht Univ, Res Inst Growth & Dev GROW, NL-6200 MD Maastricht, Netherlands.
[Mefford, Heather C.] Univ Washington, Dept Pediat, Seattle, WA 98195 USA.
[Rosenfeld, Jill A.] PerkinElmer Inc, Signature Genom Labs, Spokane, WA 99207 USA.
[Bakken, Trygve] Allen Inst Brain Sci, Seattle, WA 98103 USA.
[O'Roak, Brian J.] OHSU, Portland, OR 97208 USA.
[Pawlus, Matthew; Moon, Randall] Univ Washington, Dept Pharmacol, Seattle, WA 98109 USA.
[Amaral, David G.] Univ Calif Davis, MIND Inst, Autism Phenome Project, Sacramento, CA 95817 USA.
[Rankin, Julia] Peninsula Clin Genet Serv, Exeter EX1 2ED, Devon, England.
[Eichler, Evan E.] Howard Hughes Med Inst, Seattle, WA 98195 USA.
RP Eichler, EE (reprint author), Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA.
EM eee@gs.washington.edu
RI Romano, Corrado/B-9695-2008; Xiong, Bo/M-3605-2014; Vissers,
Lisenka/A-2598-2015
OI Romano, Corrado/0000-0003-1049-0683;
FU Simons Foundation Autism Research Initiative (SFARI) [303241]; NIH/NIMH
[R01MH101221]; SFARI [239983]; NIH [P50MH094268]; NARSAD Young
Investigator Grant from BBRF; European Commission; GENCODYS [241995];
Dutch Organisation for Health Research and Development (ZON-MW)
[917-86-319, 912-12-109]
FX This work was supported by the Simons Foundation Autism Research
Initiative (SFARI) 303241 and NIH/NIMH R01MH101221 to E.E.E.; by SFARI
239983 and NIH P50MH094268 to N.K.; by a NARSAD Young Investigator Grant
from BBRF to C.G.; and by the European Commission: GENCODYS grant 241995
under FP7 and the Dutch Organisation for Health Research and Development
(ZON-MW grants 917-86-319 and 912-12-109) to B.B.A.d.V. E.E.E. is an
Investigator of the Howard Hughes Medical Institute and is on the
scientific advisory board for DNAnexus, Inc. N.K. is a Distinguished
Brumley Professor. We thank all of the families at the participating
Simons Simplex Collection (SSC) sites, as well as the principal
investigators (A. Beaudet, R. Bernier, J. Constantino, E. Cook, E.
Fombonne, D. Geschwind, E. Hanson, D. Grice, A. Klin, R. Kochel, 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, and E. Wijsman). We are grateful to D.
Raible and H. S. Zimmermann for providing zebrafish resources and for
helpful discussions, to T. Brown for help with manuscript preparation,
and to J. Huddleston and M. Malig for sequencing support.
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NR 43
TC 21
Z9 21
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0092-8674
EI 1097-4172
J9 CELL
JI Cell
PD JUL 17
PY 2014
VL 158
IS 2
BP 263
EP 276
DI 10.1016/j.cell.2014.06.017
PG 14
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA AN9QU
UT WOS:000340943600008
PM 24998929
ER
PT J
AU Gilissen, C
Hehir-Kwa, JY
Thung, DT
van de Vorst, M
van Bon, BWM
Willemsen, MH
Kwint, M
Janssen, IM
Hoischen, A
Schenck, A
Leach, R
Klein, R
Tearle, R
Bo, T
Pfundt, R
Yntema, HG
de Vries, BBA
Kleefstra, T
Brunner, HG
Vissers, LELM
Veltman, JA
AF Gilissen, Christian
Hehir-Kwa, Jayne Y.
Thung, Djie Tjwan
van de Vorst, Maartje
van Bon, Bregje W. M.
Willemsen, Marjolein H.
Kwint, Michael
Janssen, Irene M.
Hoischen, Alexander
Schenck, Annette
Leach, Richard
Klein, Robert
Tearle, Rick
Bo, Tan
Pfundt, Rolph
Yntema, Helger G.
de Vries, Bert B. A.
Kleefstra, Tjitske
Brunner, Han G.
Vissers, Lisenka E. L. M.
Veltman, Joris A.
TI Genome sequencing identifies major causes of severe intellectual
disability
SO NATURE
LA English
DT Article
ID DE-NOVO MUTATIONS; COPY-NUMBER VARIATION; MENTAL-RETARDATION; AUTISM;
SCHIZOPHRENIA; VARIANTS; SPECTRUM; PROTEIN; PARADIGM; NETWORK
AB Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely genetic in origin(1,2). The extensive genetic heterogeneity of this disorder requires a genome-wide detection of all types of genetic variation. Microarray studies and, more recently, exome sequencing have demonstrated the importance of de novo copy number variations (CNVs) and single-nucleotide variations (SNVs) in ID, but the majority of cases remain undiagnosed(3-6). Here we applied whole-genome sequencing to 50 patients with severe ID and their unaffected parents. All patients included had not received a molecular diagnosis after extensive genetic prescreening, including microarray-based CNV studies and exome sequencing. Notwithstanding this prescreening, 84 de novo SNVs affecting the coding region were identified, which showed a statistically significant enrichment of loss-of-function mutations as well as an enrichment for genes previously implicated in ID-related disorders. In addition, we identified eight de novo CNVs, including single-exon and intra-exonic deletions, as well as interchromosomal duplications. These CNVs affected known ID genes more frequently than expected. On the basis of diagnostic interpretation of all de novo variants, a conclusive genetic diagnosis was reached in 20 patients. Together with one compound heterozygous CNV causing disease in a recessive mode, this results in a diagnostic yield of 42% in this extensively studied cohort, and 62% as a cumulative estimate in an unselected cohort. These results suggest that de novo SNVs and CNVs affecting the coding region are a major cause of severe ID. Genome sequencing can be applied as a single genetic test to reliably identify and characterize the comprehensive spectrum of genetic variation, providing a genetic diagnosis in the majority of patients with severe ID.
C1 [Gilissen, Christian; Hehir-Kwa, Jayne Y.; Thung, Djie Tjwan; van de Vorst, Maartje; van Bon, Bregje W. M.; Willemsen, Marjolein H.; Kwint, Michael; Janssen, Irene M.; Hoischen, Alexander; Schenck, Annette; Bo, Tan; Pfundt, Rolph; Yntema, Helger G.; de Vries, Bert B. A.; Kleefstra, Tjitske; Brunner, Han G.; Vissers, Lisenka E. L. M.; Veltman, Joris A.] Radboud Univ Nijmegen, Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands.
[Gilissen, Christian; Hehir-Kwa, Jayne Y.; Thung, Djie Tjwan; van de Vorst, Maartje; van Bon, Bregje W. M.; Willemsen, Marjolein H.; Kwint, Michael; Janssen, Irene M.; Hoischen, Alexander; Schenck, Annette; Bo, Tan; Pfundt, Rolph; Yntema, Helger G.; de Vries, Bert B. A.; Kleefstra, Tjitske; Brunner, Han G.; Vissers, Lisenka E. L. M.; Veltman, Joris A.] Radboud Univ Nijmegen, Med Ctr, Donders Ctr Neurosci, NL-6525 GA Nijmegen, Netherlands.
[Leach, Richard; Klein, Robert; Tearle, Rick] Complete Genom Inc, Mountain View, CA 94043 USA.
[Bo, Tan] Cent S Univ, State Key Lab Med Genet, Changsha 410078, Hunan, Peoples R China.
[Gilissen, Christian; Brunner, Han G.; Veltman, Joris A.] Maastricht Univ, Med Ctr, Dept Clin Genet, NL-6229 ER Maastricht, Netherlands.
RP Veltman, JA (reprint author), Radboud Univ Nijmegen, Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Geert Grootepl 10, NL-6525 GA Nijmegen, Netherlands.
EM joris.veltman@radboudumc.nl
RI Kleefstra, Tjitske/G-2619-2012; Brunner, Han/C-9928-2013; Vissers,
Lisenka/A-2598-2015; Veltman, Joris/F-5128-2010
FU Netherlands Organization for Scientific Research [912-12-109,
916-14-043, 916-12-095, 907-00-365, SH-271-13]; European Research
Council (ERC) [DENOVO 281964]
FX We thank R. Drmanac, K. Albers, J. Goeman, D. Lugtenberg and P. N.
Robinson for useful discussions, and M. Steehouwer, P. de Vries and W.
Nillesen for technical support. This work was in part financially
supported by grants from the Netherlands Organization for Scientific
Research (912-12-109 to J. A. V., A. S. and B.B.A.d.V., 916-14-043 to C.
G., 916-12-095 to A. H., 907-00-365 to T. K. and SH-271-13 to C. G. and
J. A. V.) and the European Research Council (ERC Starting grant DENOVO
281964 to J.A.V.).
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NR 30
TC 35
Z9 36
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 JUL 17
PY 2014
VL 511
IS 7509
BP 344
EP +
DI 10.1038/nature13394
PG 14
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AL2YR
UT WOS:000338992200035
PM 24896178
ER
PT J
AU Baron-Cohen, S
Cassidy, S
Auyeung, B
Allison, C
Achoukhi, M
Robertson, S
Pohl, A
Lai, MC
AF Baron-Cohen, Simon
Cassidy, Sarah
Auyeung, Bonnie
Allison, Carrie
Achoukhi, Maryam
Robertson, Sarah
Pohl, Alexa
Lai, Meng-Chuan
TI Attenuation of Typical Sex Differences in 800 Adults with Autism vs.
3,900 Controls
SO PLOS ONE
LA English
DT Article
ID HIGH-FUNCTIONING AUTISM; SPECTRUM QUOTIENT AQ; SYSTEMATIZING QUOTIENT;
ASPERGER-SYNDROME; CHILDHOOD AUTISM; EMPATHY QUOTIENT; DISORDERS;
GENDER; FEMALES; BRAIN
AB Sex differences have been reported in autistic traits and systemizing (male advantage), and empathizing (female advantage) among typically developing individuals. In individuals with autism, these cognitive-behavioural profiles correspond to predictions from the "extreme male brain" (EMB) theory of autism (extreme scores on autistic traits and systemizing, below average on empathizing). Sex differences within autism, however, have been under-investigated. Here we show in 811 adults (454 females) with autism and 3,906 age-matched typical control adults (2,562 females) who completed the Empathy Quotient (EQ), the Systemizing Quotient-Revised (SQ-R), and the Autism Spectrum Quotient (AQ), that typical females on average scored higher on the EQ, typical males scored higher on the SQ-R and AQ, and both males and females with autism showed a shift toward the extreme of the "male profile" on these measures and in the distribution of "brain types" (the discrepancy between standardized EQ and SQ-R scores). Further, normative sex differences are attenuated but not abolished in adults with autism. The findings provide strong support for the EMB theory of autism, and highlight differences between males and females with autism.
C1 [Baron-Cohen, Simon; Cassidy, Sarah; Auyeung, Bonnie; Allison, Carrie; Achoukhi, Maryam; Robertson, Sarah; Pohl, Alexa; Lai, Meng-Chuan] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England.
[Baron-Cohen, Simon; Lai, Meng-Chuan] Cambridgeshire & Peterborough Natl Hlth Serv Fdn, Cambridge Lifespan Asperger Syndrome Serv CLASS C, Cambridge, England.
[Auyeung, Bonnie] Univ Edinburgh, Dept Psychol, Edinburgh, Midlothian, Scotland.
[Lai, Meng-Chuan] Natl Taiwan Univ Hosp & Coll Med, Dept Psychiat, Taipei, Taiwan.
RP Baron-Cohen, S (reprint author), Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England.
EM sb205@cam.ac.uk; mcl45@cam.ac.uk
FU UK Medical Research Council; Wellcome Trust; Autism Research Trust;
William Binks Autism Neuroscience Fellowship; European Autism
Interventions - A Multicentre Study for Developing New Medications
(EU-AIMS); Wolfson College, Cambridge
FX This study received funding from the UK Medical Research Council, the
Wellcome Trust, and the Autism Research Trust. Meng-Chuan Lai was
supported by the William Binks Autism Neuroscience Fellowship, the
European Autism Interventions - A Multicentre Study for Developing New
Medications (EU-AIMS), and Wolfson College, Cambridge. 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 58
TC 4
Z9 4
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 JUL 16
PY 2014
VL 9
IS 7
AR e102251
DI 10.1371/journal.pone.0102251
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO4KM
UT WOS:000341306600051
PM 25029203
ER
PT J
AU Bombin-Gonzalez, I
Cifuentes-Rodriguez, A
Climent-Martinez, G
Luna-Lario, P
Cardas-Ibanez, J
Tirapu-Ustarroz, J
Diaz-Orueta, U
AF Bombin-Gonzalez, Igor
Cifuentes-Rodriguez, Alicia
Climent-Martinez, Gema
Luna-Lario, Pilar
Cardas-Ibanez, Jaione
Tirapu-Ustarroz, Javier
Diaz-Orueta, Unai
TI Ecological validity and multitasking environments in the evaluation of
the executive functions
SO REVISTA DE NEUROLOGIA
LA Spanish
DT Article
DE Daily life activities; Ecological validity; Executive functions;
Multitask tests; Neuropsychological assessment; Predictive validity
ID ACQUIRED BRAIN-INJURY; FRONTAL-LOBE DAMAGE; SELF-REGULATION; SAMPLE;
REHABILITATION; INTEGRATION; DISORDER; DEFICITS; AUTISM; TESTS
AB Evaluation of executive functions is a major issue of neuropsychological assessment, due to the role displayed by these on a cognitive, behavioural and emotional level, and the implication of these functions in daily life functioning. In order to perform a reliable assessment, the strategy traditionally followed for the evaluation of executive functions has been their atomization in different cognitive subprocesses, which is useful in a clinical or a research context. However, in clinical practice it is frequently artificial to disintegrate a global and complex cognitive process, such as executive functions, in a variety of related components; thus, tests designed according to these theoretical processes have low value in clinical procedures (diagnosis, rehabilitation design) due to their poor correspondence with the subject's or patient's clinical reality. The aims of the present work are to revise the concept of ecological validity applied to the evaluation of executive functions, and to perform a critical review of executive functions assessment by means of multitask paradigms as a way to increase the ecological validity and predictive value of the subject's functional performance. After a historical journey around the (low) ecological validity of single-task tests, and the bet in favour of a multitask paradigm for the evaluation of executive functions, up-to-date existing multitask tests are presented meticulously (with their respective advantages and disadvantages). Finally, concrete recommendations about how to develop multitask tests in the future are presented, attending to concrete parameters related to the context, tasks, objectives, rules and scoring.
C1 [Bombin-Gonzalez, Igor; Cifuentes-Rodriguez, Alicia] Fdn Reintegra, Oviedo, Asturias, Spain.
[Luna-Lario, Pilar; Tirapu-Ustarroz, Javier] Fdn Argibide, Navarra, Spain.
[Cardas-Ibanez, Jaione] Univ Publ Navarra, Pamplona, Spain.
[Climent-Martinez, Gema; Diaz-Orueta, Unai] Nesplora Technol & Behav, Donostia San Sebastian, Gipuzkoa, Spain.
RP Diaz-Orueta, U (reprint author), Dept I D Nesplora SL, 54,Planta 0,Of 13, E-20009 San Sebastian, Spain.
EM undiaz@gmail.com
RI Cardas, Jaione/C-9985-2012; Bombin, Igor/F-3473-2012
OI Cardas, Jaione/0000-0001-7995-9027; Bombin, Igor/0000-0002-9496-2942
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NR 39
TC 1
Z9 1
PU REVISTA DE NEUROLOGIA
PI BARCELONA
PA C/O CESAR VIGUERA, EDITOR, APDO 94121, 08080 BARCELONA, SPAIN
SN 0210-0010
EI 1576-6578
J9 REV NEUROLOGIA
JI Rev. Neurologia
PD JUL 16
PY 2014
VL 59
IS 2
BP 77
EP 87
PG 11
WC Clinical Neurology
SC Neurosciences & Neurology
GA AM5JJ
UT WOS:000339893300005
PM 25005319
ER
PT J
AU Allsop, SA
Vander Weele, CM
Wichmann, R
Tye, KM
AF Allsop, Stephen A.
Vander Weele, Caitlin M.
Wichmann, Romy
Tye, Kay M.
TI Optogenetic insights on the relationship between anxiety-related
behaviors and social deficits
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Review
DE social deficits; optogenetics; basolateral maygdala; ventral
hippocampus; mouse models of affective disorders; social interaction;
autism
ID AUTISM SPECTRUM DISORDERS; MONKEYS MACACA-MULATTA; ELEVATED PLUS-MAZE;
PARTNER-PREFERENCE FORMATION; NUCLEUS-ACCUMBENS DOPAMINE; MALE PRAIRIE
VOLES; ANIMAL-MODELS; VENTRAL HIPPOCAMPUS; WILLIAMS-SYNDROME;
CONDITIONED FEAR
AB Many psychiatric illnesses are characterized by deficits in the social domain. For example, there is a high rate of co-morbidity between autism spectrum disorders and anxiety disorders. However, the common neural circuit mechanisms by which social deficits and other psychiatric disease states, such as anxiety, are co-expressed remains unclear. Here, we review optogenetic investigations of neural circuits in animal models of anxiety-related behaviors and social behaviors and discuss the important role of the amygdala in mediating aspects of these behaviors. In particular, we focus on recent evidence that projections from the basolateral amygdala (BLA) to the ventral hippocampus (vHPC) modulate anxiety-related behaviors and also alter social interaction. Understanding how this circuit influences both social behavior and anxiety may provide a mechanistic explanation for the pathogenesis of social anxiety disorder, as well as the prevalence of patients co-diagnosed with autism spectrum disorders and anxiety disorders. Furthermore, elucidating how circuits that modulate social behavior also mediate other complex emotional states will lead to a better understanding of the underlying mechanisms by which social deficits are expressed in psychiatric disease.
C1 [Allsop, Stephen A.; Vander Weele, Caitlin M.; Wichmann, Romy; Tye, Kay M.] MIT, Dept Brain & Cognit Sci, Picower Inst Learning & Memory, Cambridge, MA 02139 USA.
[Allsop, Stephen A.] Harvard Univ, Sch Med, Boston, MA USA.
RP Tye, KM (reprint author), MIT, Dept Brain & Cognit Sci, Picower Inst Learning & Memory, 77 Massachusetts Ave,Bldg Room 46-6263, Cambridge, MA 02139 USA.
EM kaytye@mit.edu
FU BCS department; Picower Institute; PIIF Funds from the JPB Foundation;
Whitehall Foundation; Klingenstein Foundation; Whitehead Career
Development Professorship; NARSAD; Alfred P. Sloan Foundation; NIH
[DP2-DK-102256-01]; NIMH [R01-MH102441-01]; Henry E Singleton Fund;
NIGMS [T32(GM007484)]; NWO Rubicon Program; Simons Center for the Social
Brain
FX We thank Ada C. Felix-Ortiz for thoughtful comments on this manuscript
as well as for the use of illustrations. We thank the BCS department and
the Picower Institute for support, as well as funding to Kay M. Tye from
the PIIF Funds from the JPB Foundation, Whitehall Foundation,
Klingenstein Foundation, Whitehead Career Development Professorship,
NARSAD Young Investigator Award, Alfred P. Sloan Foundation, NIH New
Innovator Award (DP2-DK-102256-01), and NIMH (R01-MH102441-01). We would
also like to thank the BCS department for funding support through the
Jeffrey ('76) And Nancy Halis Fellowship and the Henry E Singleton
(1940) Fund (Stephen A. Allsop) in addition to the NIGMS T32(GM007484)
(Caitlin M. Vander Weele). Lastly, we would also like to thank the NWO
Rubicon Program and Simons Center for the Social Brain for funding
support (Romy Wichmann).
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NR 241
TC 3
Z9 3
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
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JI Front. Behav. Neurosci.
PD JUL 16
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GA AL3JL
UT WOS:000339023300001
PM 25076878
ER
PT J
AU Plon, M
AF Plon, Michel
TI GENESIS OF AUTISM
SO QUINZAINE LITTERAIRE
LA French
DT Book Review
CR THOMAS MC, GENESES AUTISME
NR 1
TC 0
Z9 0
PU QUINZAINE LITTERAIRE
PI PARIS
PA 135 RUE SAINT-MARTIN, 75194 PARIS, FRANCE
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PD JUL 15
PY 2014
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EP 28
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SC Literature
GA CB2ZU
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PT J
AU Gebauer, L
Skewes, J
Westphael, G
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Skewes, Joshua
Westphael, Gitte
Heaton, Pamela
Vuust, Peter
TI Intact brain processing of musical emotions in autism spectrum disorder,
but more cognitive load and arousal in happy vs. sad music
SO FRONTIERS IN NEUROSCIENCE
LA English
DT Article
DE autism spectrum disorder; music; emotion; fMRI
ID SUPERIOR TEMPORAL SULCUS; ASPERGERS-SYNDROME; FACIAL EXPRESSIONS;
PERCEPTION; RESPONSES; CHILDREN; FACE; ALEXITHYMIA; RECOGNITION;
EXPERIENCE
AB Music is a potent source for eliciting emotions, but not everybody experience emotions in the same way. Individuals with autism spectrum disorder (ASD) show difficulties with social and emotional cognition. Impairments in emotion recognition are widely studied in ASD, and have been associated with atypical brain activation in response to emotional expressions in faces and speech. Whether these impairments and atypical brain responses generalize to other domains, such as emotional processing of music, is less clear. Using functional magnetic resonance imaging, we investigated neural correlates of emotion recognition in music in high-functioning adults with ASD and neurotypical adults. Both groups engaged similar neural networks during processing of emotional music, and individuals with ASD rated emotional music comparable to the group of neurotypical individuals. However, in the ASD group, increased activity in response to happy compared to sad music was observed in dorsolateral prefrontal regions and in the rolandic operculum/insula, and we propose that this reflects increased cognitive processing and physiological arousal in response to emotional musical stimuli in this group.
C1 [Gebauer, Line; Skewes, Joshua; Westphael, Gitte; Vuust, Peter] Aarhus Univ, Ctr Functionally Integrat Neurosci, Dept Clin Med, DK-8000 Aarhus, Denmark.
[Gebauer, Line] Aarhus Univ, Interacting Minds Ctr, DK-8000 Aarhus, Denmark.
[Heaton, Pamela] Goldsmiths Univ London, Dept Psychol, London, England.
[Vuust, Peter] Royal Acad Mus, Aarhus, Denmark.
RP Gebauer, L (reprint author), Aarhus Univ, Ctr Functionally Integrat Neurosci, Dept Clin Med, Noerrebrogade 44,Build 10G,5th Floor, DK-8000 Aarhus, Denmark.
EM gebauer@pet.auh.dk
FU Lundbeck Foundation [R32-A2846]
FX This work was supported by the Lundbeck Foundation (R32-A2846 to Line
Gebauer).
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NR 105
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PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-453X
J9 FRONT NEUROSCI-SWITZ
JI Front. Neurosci.
PD JUL 15
PY 2014
VL 8
AR 192
DI 10.3389/fnins.2014.00192
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SC Neurosciences & Neurology
GA AW8GK
UT WOS:000346499100001
PM 25076869
ER
PT J
AU Vogan, VM
Morgan, BR
Lee, W
Powell, TL
Smith, ML
Taylor, MJ
AF Vogan, Vanessa M.
Morgan, Benjamin R.
Lee, Wayne
Powell, Tamara L.
Smith, Mary Lou
Taylor, Margot J.
TI The neural correlates of visuo-spatial working memory in children with
autism spectrum disorder: effects of cognitive load
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Working memory; Autism spectrum disorder; Functional magnetic resonance
imaging; Executive function; Cognitive load; Frontal lobe; Parietal lobe
ID HIGH-FUNCTIONING AUTISM; DORSAL VISUAL PATHWAY; EXECUTIVE FUNCTION;
LEARNING-DIFFICULTIES; CORTICAL ACTIVATION; FRONTAL-CORTEX; GREY-MATTER;
BRAIN; DEFICITS; FMRI
AB Background: Research on the neural bases of cognitive deficits in autism spectrum disorder (ASD) has shown that working memory (WM) difficulties are associated with abnormalities in the prefrontal cortex. However, cognitive load impacts these findings, and no studies have examined the relation between WM load and neural underpinnings in children with ASD. Thus, the current study determined the effects of cognitive load on WM, using a visuo-spatial WM capacity task in children with and without ASD with functional magnetic resonance imaging (fMRI).
Methods: We used fMRI and a 1-back colour matching task (CMT) task with four levels of difficulty to compare the cortical activation patterns associated with WM in children (7-13 years old) with high functioning autism (N = 19) and matched controls (N = 17) across cognitive load.
Results: Performance on CMT was comparable between groups, with the exception of one difficulty level. Using linear trend analyses, the control group showed increasing activation as a function of difficulty level in frontal and parietal lobes, particularly between the highest difficulty levels, and decreasing activation as a function of difficulty level in the posterior cingulate and medial frontal gyri. In contrast, children with ASD showed increasing activation only in posterior brain regions and decreasing activation in the posterior cingulate and medial frontal gyri, as a function of difficulty level. Significant differences were found in the precuneus, dorsolateral prefrontal cortex and medial premotor cortex, where control children showed greater positive linear relations between cortical activity and task difficulty level, particularly at the highest difficulty levels, but children with ASD did not show these trends.
Conclusions: Children with ASD showed differences in activation in the frontal and parietal lobes-both critical substrates for visuo-spatial WM. Our data suggest that children with ASD rely mainly on posterior brain regions associated with visual and lower level processing, whereas controls showed activity in frontal lobes related to the classic WM network. Findings will help guide future work by localizing areas of vulnerability to developmental disturbances.
C1 [Vogan, Vanessa M.; Morgan, Benjamin R.; Lee, Wayne; Powell, Tamara L.; Smith, Mary Lou; Taylor, Margot J.] Hosp Sick Children, Diagnost Imaging & Res Inst, Toronto, ON M5G 1X8, Canada.
[Vogan, Vanessa M.; Taylor, Margot J.] Univ Toronto, Ontario Inst Studies Educ, Dept Appl Psychol & Human Dev, Toronto, ON M5S 1V6, Canada.
[Smith, Mary Lou; Taylor, Margot J.] Univ Toronto, Dept Psychol, Toronto, ON M5S 1V6, Canada.
RP Vogan, VM (reprint author), Hosp Sick Children, Diagnost Imaging & Res Inst, 555 Univ Ave, Toronto, ON M5G 1X8, Canada.
EM vanessa.vogan@sickkids.ca
FU Crescent School in Toronto; Canadian Institutes of Health Research
[MOP-106582]
FX The authors would like to thank all of the families and children for
their support and participation. We would also like to thank Rina Goukon
for her assistance with participant recruitment and data collection.
Many thanks to Rachel Leung and Becky Baatjes for administering the
ADOS-R and ADOS-2 and Dr. Jessica Brian for reviewing all assessments.
Sincere thanks to our MRI technicians, Ruth Weiss and Tammy Rayner, for
all their support in data acquisition. The authors would also like to
thank Marie Arsalidou for developing the CMT task and allowing us to use
it. Lastly, thanks to Crescent School in Toronto for their support and
participation in this project. This research was funded by Canadian
Institutes of Health Research (MOP-106582) and preliminary analyses of
these data were presented as a poster at the International Meeting for
Autism Research (IMFAR) 2013.
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SC Neurosciences & Neurology
GA AL6ZU
UT WOS:000339283400001
PM 25057329
ER
PT J
AU Alessi, DR
Zhang, JW
Khanna, A
Hochdorfer, T
Shang, YZ
Kahle, KT
AF Alessi, Dario R.
Zhang, Jinwei
Khanna, Arjun
Hochdoerfer, Thomas
Shang, Yuze
Kahle, Kristopher T.
TI The WNK-SPAK/OSR1 pathway: Master regulator of cation-chloride
cotransporters
SO SCIENCE SIGNALING
LA English
DT Review
ID K-CL COTRANSPORT; TEMPORAL-LOBE EPILEPSY; FAMILIAL HYPERKALEMIC
HYPERTENSION; PSEUDOHYPOALDOSTERONISM TYPE-II; BLOOD-PRESSURE
REGULATION; DISEASE-CAUSING MUTATIONS; KELCH-LIKE 3; SHEEP ERYTHROCYTES;
STRUCTURAL INSIGHTS; PROTEIN-KINASES
AB The WNK-SPAK/OSR1 kinase complex is composed of the kinases WNK (with no lysine) and SPAK (SPS1-related proline/alanine-rich kinase) or the SPAK homolog OSR1 (oxidative stress-responsive kinase 1). The WNK family senses changes in intracellular Cl-concentration, extracellular osmolarity, and cell volume and transduces this information to sodium (Na+), potassium (K+), and chloride (Cl-) cotransporters [collectively referred to as CCCs (cation-chloride cotransporters)] and ion channels to maintain cellular and organismal homeostasis and affect cellular morphology and behavior. Several genes encoding proteins in this pathway are mutated in human disease, and the cotransporters are targets of commonly used drugs. WNKs stimulate the kinases SPAK and OSR1, which directly phosphorylate and stimulate Cl--importing, Na+-driven CCCs or inhibit the Cl--extruding, K+-driven CCCs. These coordinated and reciprocal actions on the CCCs are triggered by an interaction between RFXV/I motifs within the WNKs and CCCs and a conserved carboxyl-terminal docking domain in SPAK and OSR1. This interaction site represents a potentially druggable node that could be more effective than targeting the cotransporters directly. In the kidney, WNK-SPAK/OSR1 inhibition decreases epithelial NaCl reabsorption and K+ secretion to lower blood pressure while maintaining serum K+. In neurons, WNK-SPAK/OSR1 inhibition could facilitate Cl-extrusion and promote gamma-aminobutyric acidergic (GABAergic) inhibition. Such drugs could have efficacy as K+-sparing blood pressure-lowering agents in essential hypertension, nonaddictive analgesics in neuropathic pain, and promoters of GABAergic inhibition in diseases associated with neuronal hyperactivity, such as epilepsy, spasticity, neuropathic pain, schizophrenia, and autism.
C1 [Alessi, Dario R.; Zhang, Jinwei; Hochdoerfer, Thomas] Univ Dundee, Coll Life Sci, MRC Prot Phosphorylat & Ubiquitylat Unit, Dundee DD1 5EH, Scotland.
[Khanna, Arjun; Kahle, Kristopher T.] Massachusetts Gen Hosp, Dept Neurosurg, Boston, MA 02115 USA.
[Khanna, Arjun; Kahle, Kristopher T.] Harvard Univ, Sch Med, Boston, MA 02115 USA.
[Shang, Yuze; Kahle, Kristopher T.] Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA.
RP Kahle, KT (reprint author), Massachusetts Gen Hosp, Dept Neurosurg, Boston, MA 02115 USA.
EM kkahle@enders.tch.harvard.edu
FU Medical Research Council; Wellcome Trust [091415]; Manton Center for
Orphan Diseases at Boston Children's Hospital at Harvard Medical School;
Harvard/MIT Joint Research Grants Program in Basic Neuroscience
FX D.R.A. research in this area is supported by the Medical Research
Council and the Wellcome Trust (grant number 091415) and the
pharmaceutical companies supporting the Division of Signal Transduction
Therapy Unit (AstraZeneca, Boehringer Ingelheim, GlaxoSmithKline, Merck
KGaA, Janssen Pharmaceutica, and Pfizer). K.T.K. is supported by the
Manton Center for Orphan Diseases at Boston Children's Hospital at
Harvard Medical School, and the Harvard/MIT Joint Research Grants
Program in Basic Neuroscience.
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NR 115
TC 6
Z9 6
PU AMER ASSOC ADVANCEMENT SCIENCE
PI WASHINGTON
PA 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA
SN 1945-0877
EI 1937-9145
J9 SCI SIGNAL
JI Sci. Signal.
PD JUL 15
PY 2014
VL 7
IS 334
AR re3
DI 10.1126/scisignal.2005365
PG 10
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA AL5JG
UT WOS:000339169200003
PM 25028718
ER
PT J
AU Mostafa, GA
El-Sherif, DF
Ai-Ayadhi, LY
AF Mostafa, Gehan A.
El-Sherif, Dalia F.
Ai-Ayadhi, Laila Y.
TI Systemic auto-antibodies in children with autism
SO JOURNAL OF NEUROIMMUNOLOGY
LA English
DT Article
DE Anti-ds-DNA antibodies; ANA, autism; Autoimmunity; Family history of
autoimmunity
ID ELEVATED SERUM-LEVELS; LUPUS-ERYTHEMATOSUS; ANTINUCLEAR ANTIBODIES;
AUTOIMMUNE-DISEASES; INCREASED FREQUENCY; FAMILY-HISTORY; ASSOCIATION;
DISORDERS; PROTEIN; BRAIN
AB Autoimmunity to central nervous system may have a role in the pathogenesis of autism. A subset of anti-ds-DNA antibodies has been recently proved to be pathogenic to the brain as well as to the kidney. Due to the paucity of studies investigating the frequency of systemic auto-antibodies in autism, we are the first to investigate the frequency of anti-ds-DNA antibodies in a group of autistic children. The seropositivity of anti-nuclear antibodies (ANA) was also investigated. Serum anti-ds-DNA antibodies and ANA were measured in 100 autistic children, aged between 4 and 11 years, in comparison to 100 healthy-matched children. The seropositivity of anti-ds-DNA antibodies and ANA in autistic children was 34% and 25%, respectively. In addition, 42% of autistic children were seropositive for anti-ds-DNA antibodies and/or ANA. The frequencies of anti-ds-DNA antibodies and ANA in autistic children were significantly higher than that in healthy children (4% and 2%, respectively), (P < 0.001 and P < 0.001, respectively). Autistic children with a family history of autoimmunity (45%) had significantly higher frequency of serum anti-ds-DNA antibodies (48.9%) than patients without such a history (21.8%), P = 0.008. There was a significant positive association between the seropositivity of anti-ds-DNA antibodies and ANA (P < 0.001). In conclusion, anti-ds-DNA antibodies and ANA were found in the sera of a subgroup of autistic children. However, replication studies of larger samples are warranted to validate whether these antibodies are a mere association or have a pathogenic role in some autistic children. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Mostafa, Gehan A.; El-Sherif, Dalia F.] Ain Shams Univ, Fac Med, Dept Pediat, Cairo, Egypt.
[Mostafa, Gehan A.; Ai-Ayadhi, Laila Y.] King Saud Univ, Fac Med, Autism Res & Treatment Ctr, Dept Physiol,Al Amodi Autism Res Chair, Riyadh, Saudi Arabia.
RP Mostafa, GA (reprint author), 9 Ahmed El Samman St Makram Ebaid, Cairo 11511, Egypt.
EM gehan.mostafa2000@yahoo.com
FU King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia;
NPST, Health Research and Studies Program at Kind Saud University
FX This work was financially supported by the King Abdulaziz City for
Science and Technology, Riyadh, Saudi Arabia. It was also supported by
NPST, Health Research and Studies Program at Kind Saud University.
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NR 38
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-5728
EI 1872-8421
J9 J NEUROIMMUNOL
JI J. Neuroimmunol.
PD JUL 15
PY 2014
VL 272
IS 1-2
BP 94
EP 98
DI 10.1016/j.jneuroim.2014.04.011
PG 5
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA AK7MX
UT WOS:000338613500014
PM 24837704
ER
PT J
AU Di Nardo, A
Wertz, MH
Kwiatkowski, E
Tsai, PT
Leech, JD
Greene-Colozzi, E
Goto, J
Dilsiz, P
Talos, DM
Clish, CB
Kwiatkowski, DJ
Sahin, M
AF Di Nardo, Alessia
Wertz, Mary H.
Kwiatkowski, Erica
Tsai, Peter T.
Leech, Jarrett D.
Greene-Colozzi, Emily
Goto, June
Dilsiz, Pelin
Talos, Delia M.
Clish, Clary B.
Kwiatkowski, David J.
Sahin, Mustafa
TI Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent
regulation of ULK1
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID TUBEROUS SCLEROSIS COMPLEX; ACTIVATED PROTEIN-KINASE; NEURODEGENERATIVE
DISEASES; SERINE/THREONINE KINASE; CAENORHABDITIS-ELEGANS;
HUNTINGTONS-DISEASE; ENHANCE AUTOPHAGY; PHOSPHORYLATION; DYSFUNCTION;
CELLS
AB Tuberous sclerosis complex (TSC) is a disorder arising from mutation in the TSC1 or TSC2 gene, characterized by the development of hamartomas in various organs and neurological manifestations including epilepsy, intellectual disability and autism. TSC1/2 protein complex negatively regulates the mammalian target of rapamycin complex 1 (mTORC1) a master regulator of protein synthesis, cell growth and autophagy. Autophagy is a cellular quality-control process that sequesters cytosolic material in double membrane vesicles called autophagosomes and degrades it in autolysosomes. Previous studies in dividing cells have shown that mTORC1 blocks autophagy through inhibition of Unc-51-like-kinase1/2 (ULK1/2). Despite the fact that autophagy plays critical roles in neuronal homeostasis, little is known on the regulation of autophagy in neurons. Here we show that unlike in non-neuronal cells, Tsc2-deficient neurons have increased autolysosome accumulation and autophagic flux despite mTORC1-dependent inhibition of ULK1. Our data demonstrate that loss of Tsc2 results in autophagic activity via AMPK-dependent activation of ULK1. Thus, in Tsc2-knockdown neurons AMPK activation is the dominant regulator of autophagy. Notably, increased AMPK activity and autophagy activation are also found in the brains of Tsc1-conditional mouse models and in cortical tubers resected from TSC patients. Together, our findings indicate that neuronal Tsc1/2 complex activity is required for the coordinated regulation of autophagy by AMPK. By uncovering the autophagy dysfunction associated with Tsc2 loss in neurons, our work sheds light on a previously uncharacterized cellular mechanism that contributes to altered neuronal homeostasis in TSC disease.
C1 [Di Nardo, Alessia; Wertz, Mary H.; Kwiatkowski, Erica; Tsai, Peter T.; Leech, Jarrett D.; Greene-Colozzi, Emily; Sahin, Mustafa] Harvard Univ, Sch Med, Childrens Hosp Boston, FM Kirby Neurobiol Ctr,Dept Neurol, Boston, MA 02115 USA.
[Goto, June; Kwiatkowski, David J.] Harvard Univ, Sch Med, Brigham & Womens Hosp, Div Translat Med,Dept Med, Boston, MA 02115 USA.
[Dilsiz, Pelin; Talos, Delia M.] NYU, Sch Med, Dept Neurol, New York, NY 10016 USA.
[Clish, Clary B.] Broad Inst Massachusetts Inst Technol & Harvard U, Cambridge, MA 02142 USA.
RP Sahin, M (reprint author), Childrens Hosp, Dept Neurol, 300 Longwood Ave,CLSB 13074, Boston, MA 02115 USA.
EM mustafa.sahin@childrens.harvard.edu
FU Nancy Lurie Marks Family Foundation; Autism Speaks; Boston Children's
Hospital Translational Research Program; National Institute of Health
[P01 NS024279, K08 NS083733]; Tuberous Sclerosis Alliance; FACES
[Finding a Cure for Epilepsy and Seizures]; National Institute of Child
Health and Human Development-Brain and Tissue Bank for Developmental
Disorders at the University of Maryland, Baltimore, MD, USA
[HHSN275200900011C, N01-HD-9-0011]
FX This work was supported by Nancy Lurie Marks Family Foundation, Autism
Speaks and Boston Children's Hospital Translational Research Program (to
M. S.), National Institute of Health [P01 NS024279 (to D.J.K.) and K08
NS083733 (to P. T. T.)], the Tuberous Sclerosis Alliance (to A.D.N.),
FACES [Finding a Cure for Epilepsy and Seizures (to D. M. T.)]. Control
human tissue was obtained from the National Institute of Child Health
and Human Development-Brain and Tissue Bank for Developmental Disorders
at the University of Maryland, Baltimore, MD, USA, contract
HHSN275200900011C, Ref. No. N01-HD-9-0011.
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NR 46
TC 6
Z9 6
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 JUL 15
PY 2014
VL 23
IS 14
BP 3865
EP 3874
DI 10.1093/hmg/ddu101
PG 10
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AK7TJ
UT WOS:000338630300021
PM 24599401
ER
PT J
AU Hiroi, N
AF Hiroi, Noboru
TI Small Cracks in the Dam: Rare Genetic Variants Provide Opportunities to
Delve into Mechanisms of Neuropsychiatric Disorders
SO BIOLOGICAL PSYCHIATRY
LA English
DT Editorial Material
ID COPY-NUMBER VARIATION; AUTISM; PHENOTYPES; BEHAVIOR; DELETION; 22Q11.2
C1 [Hiroi, Noboru] Albert Einstein Coll Med, Dept Psychiat & Behav Sci, Dominick P Purpura Dept Neurosci, Bronx, NY 10461 USA.
[Hiroi, Noboru] Albert Einstein Coll Med, Dept Genet, Bronx, NY 10461 USA.
RP Hiroi, N (reprint author), Albert Einstein Coll Med, Dept Psychiat & Behav Sci, 1300 Morris Pk Ave,Golding 104, Bronx, NY 10461 USA.
EM noboru.hiroi@einstein.yu.edu
CR Fejgin K, 2014, BIOL PSYCHIAT, V76, P128, DOI 10.1016/j.biopsych.2013.08.014
Girirajan S, 2012, NEW ENGL J MED, V367, P1321, DOI 10.1056/NEJMoa1200395
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Hiroi N, 2013, MOL PSYCHIATR, V18, P1153, DOI 10.1038/mp.2013.92
Horev G, 2011, P NATL ACAD SCI USA, V108, P17076, DOI 10.1073/pnas.1114042108
Li HH, 2009, EMBO MOL MED, V1, P50, DOI 10.1002/emmm.200900003
Malhotra D, 2012, CELL, V148, P1223, DOI 10.1016/j.cell.2012.02.039
Nakatani J, 2009, CELL, V137, P1235, DOI 10.1016/j.cell.2009.04.024
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Shinawi M, 2009, NAT GENET, V41, P1269, DOI 10.1038/ng.481
NR 10
TC 1
Z9 1
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 JUL 15
PY 2014
VL 76
IS 2
BP 91
EP 92
DI 10.1016/j.biopsych.2014.05.002
PG 2
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AK5FU
UT WOS:000338450900003
PM 24948383
ER
PT J
AU Forrester, GS
Pegler, R
Thomas, MSC
Mareschal, D
AF Forrester, Gillian S.
Pegler, Ruth
Thomas, Michael S. C.
Mareschal, Denis
TI Handedness as a marker of cerebral lateralization in children with and
without autism
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Cerebral lateralization; Handedness; Autism; Self-directed behavior
ID CHIMPANZEES PAN-TROGLODYTES; HAND PREFERENCE; SPECTRUM DISORDERS;
NONHUMAN-PRIMATES; DEVELOPMENTAL INSTABILITY; EMOTIONAL VALENCE;
YOUNG-CHILDREN; BRAIN; ASYMMETRIES; LANGUAGE
AB We employed a multiple case studies approach to investigate lateralization of hand actions in typically and atypically developing children between 4 and 5 years of age. We report on a detailed set of over 1200 hand actions made by four typically developing boys and four boys with autism. Participants were assessed for unimanual hand actions to both objects and the self (self-directed behaviors). Individual and group analyses suggest that typically developing children have a right hand dominance for hand actions to objects and a left hand dominance for hand actions for self-directed behaviors, revealing a possible dissociation for functional specialization of the left and right hemispheres respectively. Children with autism demonstrated mixed-handedness for both target conditions, consistent with the hypothesis that there is reduced cerebral specialization in these children. The findings are consistent with the view that observed lateralized motor action can serve as an indirect behavioral marker for evidence of cerebral lateralization. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Forrester, Gillian S.; Pegler, Ruth] Univ Westminster, Dept Psychol, London W1B 2HW, England.
[Thomas, Michael S. C.; Mareschal, Denis] Birkbeck Univ London, Dept Psychol Sci, Ctr Brain & Cognit Dev, London WC1E 7HX, England.
RP Forrester, GS (reprint author), Univ Westminster, Dept Psychol, 309 Regent St, London W1B 2HW, England.
EM g.forrester@westminster.ac.uk
FU European (ANALOGY) [FP6-NEST-029088]; European (ACT)
[FP7-MC-ITN-289404]; ESRC [RES-062-23-2721]; University of Westminster's
Psychology Publication Stimulus Scheme
FX We are grateful to the parents, teachers and children of Livingstone
Primary School for their participation and to Dr. Kristelle Hudry for
conducting diagnostic testing. We gratefully acknowledge funding support
provided in part by European Grants: FP6-NEST-029088(ANALOGY),
FP7-MC-ITN-289404(ACT), ESRC grant RES-062-23-2721 and the University of
Westminster's Psychology Publication Stimulus Scheme.
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NR 101
TC 0
Z9 0
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 JUL 15
PY 2014
VL 268
BP 14
EP 21
DI 10.1016/j.bbr.2014.03.040
PG 8
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AJ4MQ
UT WOS:000337650900003
PM 24704491
ER
PT J
AU Weidner, KL
Buenaventura, DF
Chadman, KK
AF Weidner, Kate L.
Buenaventura, Diego F.
Chadman, Kathryn K.
TI Mice over-expressing BDNF in forebrain neurons develop an altered
behavioral phenotype with age
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Brain derived neurotrophic factor; Transgenic mice; Autism; Social
approach; Behavioral phenotype
ID MARBLE-BURYING BEHAVIOR; NEUROTROPHIC FACTOR; EPILEPTIFORM ACTIVITY;
OVEREXPRESSING MICE; SPECTRUM DISORDERS; MENTAL-RETARDATION; INBRED
STRAINS; PROTEIN-LEVELS; AUTISM; MOUSE
AB Evidence from clinical studies suggests that abnormal activity of brain derived neurotrophic factor (BDNF) contributes to the pathogenesis of autism spectrum disorders (ASDs). A genetically modified line of mice over-expressing a BDNF transgene in forebrain neurons was used to investigate if this mutation leads to changes in behavior consistent with ASD. The mice used in these experiments were behaviorally tested past 5 months of age when spontaneous seizures were evident. These seizures were not observed in age-matched wildtype (WT) mice or younger mice from this transgenic line. The BDNF mice in these experiments weighed less than their WT littermates. The BDNF transgenic (BDNF-tg) mice demonstrated similar levels of sociability in the social approach test. Conversely, the BDNF-tg mice demonstrated less obsessive compulsive-like behavior in the marble burying test, less anxiety-like behavior in the elevated plus maze test, and less depressive-like behavior in the forced swim test. Changes in behavior were found in these older mice that have not been observed in younger mice from this transgenic line, which may be due to the development of seizures as the mice age. These mice do not have an ASD phenotype but may be useful to study adult onset epilepsy. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Weidner, Kate L.; Buenaventura, Diego F.] CUNY Coll Staten Isl, Staten Isl, NY 10314 USA.
[Weidner, Kate L.; Buenaventura, Diego F.; Chadman, Kathryn K.] New York State Inst Basic Res Dev Disabil, Staten Isl, NY 10314 USA.
RP Chadman, KK (reprint author), New York State Inst Basic Res Dev Disabil, Dept Dev Neurobiol, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA.
EM klw7fu@virginia.edu; kathryn.chadman@opwdd.ny.gov
FU New York State Office for People with Developmental Disabilities; Center
for Developmental Neuroscience at the College of Staten Island, City
University of New York
FX This work was supported by the New York State Office for People with
Developmental Disabilities and was done in conjunction with the Center
for Developmental Neuroscience at the College of Staten Island, City
University of New York. We thank Dr. G.Y. Wen for PCR equipment and Dr.
J.N. Crawley for the gift of the original BDNF-tg breeding pairs. We
also thank Drs. G.Y. Wen and S.R. Guariglia, for critical reading of the
manuscript.
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NR 44
TC 3
Z9 3
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 JUL 15
PY 2014
VL 268
BP 222
EP 228
DI 10.1016/j.bbr.2014.04.025
PG 7
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AJ4MQ
UT WOS:000337650900026
PM 24768643
ER
PT J
AU Park, MTM
Pipitone, J
Baer, LH
Winterburn, JL
Shah, Y
Chavez, S
Schira, MM
Lobaugh, NJ
Lerch, JP
Voineskos, AN
Chakravarty, MM
AF Park, Min Tae M.
Pipitone, Jon
Baer, Lawrence H.
Winterburn, Julie L.
Shah, Yashvi
Chavez, Sofia
Schira, Mark M.
Lobaugh, Nancy J.
Lerch, Jason P.
Voineskos, Aristotle N.
Chakravarty, M. Mallar
TI Derivation of high-resolution MRI atlases of the human cerebellum at 3 T
and segmentation using multiple automatically generated templates
SO NEUROIMAGE
LA English
DT Article
DE MRI; High resolution; Atlas; Cerebellum; Lobule; Automatic
ID INTRINSIC FUNCTIONAL CONNECTIVITY; COGNITIVE-AFFECTIVE SYNDROME;
MAGNETIC-RESONANCE; ALZHEIMERS-DISEASE; ONSET SCHIZOPHRENIA; WARPING
TECHNIQUES; BRAIN; REGISTRATION; AUTISM; VERMIS
AB The cerebellum has classically been linked to motor learning and coordination. However, there is renewed interest in the role of the cerebellum in non-motor functions such as cognition and in the context of different neuropsychiatric disorders. The contribution of neuroimaging studies to advancing understanding of cerebellar structure and function has been limited, partly due to the cerebellum being understudied as a result of contrast and resolution limitations of standard structural magnetic resonance images (MRI). These limitations inhibit proper visualization of the highly compact and detailed cerebellar foliations. In addition, there is a lack of robust algorithms that automatically and reliably identify the cerebellum and its subregions, further complicating the design of large-scale studies of the cerebellum. As such, automated segmentation of the cerebellar lobules would allow detailed population studies of the cerebellum and its subregions. In this manuscript, we describe a novel set of high-resolution in vivo atlases of the cerebellum developed by pairing MR imaging with a carefully validated manual segmentation protocol. Using these cerebellar atlases as inputs, we validate a novel automated segmentation algorithm that takes advantage of the neuroanatomical variability that exists in a given population under study in order to automatically identify the cerebellum, and its lobules. Our automatic segmentation results demonstrate good accuracy in the identification of all lobules (mean Kappa [kappa] = 0.731; range 0.40-0.89), and the entire cerebellum (means kappa = 0.925; range 0.90-0.94) when compared to "gold-standard" manual segmentations. These results compare favorably in comparison to other publically available methods for automatic segmentation of the cerebellum. The completed cerebellar atlases are available freely online (http://imaging-genetics.camh.ca/cerebellum) and can be customized to the unique neuroanatomy of different subjects using the proposed segmentation pipeline (https://github.com/pipitone/MAGeTbrain). (C) 2014 Elsevier Inc. All rights reserved.
C1 [Park, Min Tae M.; Pipitone, Jon; Winterburn, Julie L.; Shah, Yashvi; Voineskos, Aristotle N.; Chakravarty, M. Mallar] Ctr Addict & Mental Hlth, Res Imaging Ctr, Kimel Family Translat Imaging Genet Res Lab, Toronto, ON M5T 1R8, Canada.
[Baer, Lawrence H.] Concordia Univ, Dept Psychol, Montreal, PQ H3G 1M8, Canada.
[Chavez, Sofia; Lobaugh, Nancy J.] Ctr Addict & Mental Hlth, Res Imaging Ctr, MRI Unit, Toronto, ON M5T 1R8, Canada.
[Chavez, Sofia; Voineskos, Aristotle N.; Chakravarty, M. Mallar] Univ Toronto, Dept Psychiat, Toronto, ON, Canada.
[Schira, Mark M.] Univ Wollongong, Sch Psychol, Wollongong, NSW, Australia.
[Schira, Mark M.] Neurosci Res Australia, Sydney, NSW, Australia.
[Lobaugh, Nancy J.] Univ Toronto, Dept Med, Div Neurol, Toronto, ON, Canada.
[Lerch, Jason P.] Hosp Sick Children, Program Neurosci & Mental Hlth, Toronto, ON M5G 1X8, Canada.
[Lerch, Jason P.] Univ Toronto, Dept Med Biophys, Toronto, ON, Canada.
[Chakravarty, M. Mallar] Univ Toronto, Inst Biomat & Biomed Engn, Toronto, ON, Canada.
RP Park, MTM (reprint author), Ctr Addict & Mental Hlth, Res Imaging Ctr, Kimel Family Translat Imaging Genet Res Lab, 250 Coll St, Toronto, ON M5T 1R8, Canada.
EM mtpark89@gmail.com; mallar.chakravarty@camh.ca
FU CAMH Foundation; W. Garfield Weston Foundation; Canadian Institutes of
Health Research; Ontario Mental Health Foundation; NARSAD; National
Institute of Mental Health [R01MH099167]; Canada Foundation for
Innovation under the Compute Canada; Government of Ontario; Ontario
Research Fund - Research Excellence; University of Toronto
FX We wish to thank Anusha Ravichandran for help with image acquisition,
and we acknowledge support from the CAMH Foundation, thanks to Michael
and Sonja Koerner, the Kimel Family, and the Paul E. Garfinkel New
Investigator Catalyst Award. MMC is funded by the W. Garfield Weston
Foundation and ANV is funded by the Canadian Institutes of Health
Research, Ontario Mental Health Foundation, NARSAD, and the National
Institute of Mental Health (R01MH099167). Computations were performed on
the GPC supercomputer at the SciNet HPC Consortium. SciNet is funded by:
the Canada Foundation for Innovation under the auspices of Compute
Canada; the Government of Ontario; Ontario Research Fund - Research
Excellence; and the University of Toronto.
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NR 79
TC 6
Z9 6
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 JUL 15
PY 2014
VL 95
BP 217
EP 231
DI 10.1016/j.neuroimage.2014.03.037
PG 15
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AI9QN
UT WOS:000337267900021
PM 24657354
ER
PT J
AU Faust, M
Kenett, YN
AF Faust, Miriam
Kenett, Yoed N.
TI Rigidity, chaos and integration: hemispheric interaction and individual
differences in metaphor comprehension
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE metaphors; creative language; cerebral hemispheres; network science;
chaos; rigidity; integration
ID HIGH-FUNCTIONING AUTISM; SMALL-WORLD NETWORKS; SEMANTIC NETWORKS;
CEREBRAL HEMISPHERES; ASPERGERS SYNDROME; BRAIN; LANGUAGE;
SCHIZOPHRENIA; CREATIVITY; DYNAMICS
AB Neurotypical individuals cope flexibly with the full range of semantic relations expressed in human language, including metaphoric relations. This impressive semantic ability may be associated with distinct and flexible patterns of hemispheric interaction, including higher right hemisphere (RH) involvement for processing novel metaphors. However this ability may be impaired in specific clinical conditions, such as Asperger syndrome (AS) and schizophrenia. The impaired semantic processing is accompanied by different patterns of hemispheric interaction during semantic processing, showing either reduced (in Asperger syndrome) or excessive (in schizophrenia) RH involvement. This paper interprets these individual differences using the terms Rigidity Chaos and Integration, which describe patterns of semantic memory network states that either lead to semantic well-being or are disruptive of it. We argue that these semantic network states lie on a rigidity-chaos semantic continuum. We define these terms via network science terminology and provide network, cognitive and neural evidence to support our claim. This continuum includes left hemisphere (LH) hyper rigid semantic memory state on one end (e g., in persons with AS), and RH chaotic and over-flexible semantic memory state on the other end (e.g., in persons with schizophrenia). In between these two extremes lie different states of semantic memory structure which are related to individual differences in semantic creativity. We suggest that efficient semantic processing is achieved by semantic integration, a balance between semantic rigidity and semantic chaos. Such integration is achieved via intra-hemispheric communication. However, impairments to this well-balanced and integrated pattern of hemispheric interaction, e.g., when one hemisphere dominates the other, may lead to either semantic rigidity or semantic chaos, moving away from semantic integration and thus impairing the processing of metaphoric language.
C1 [Faust, Miriam; Kenett, Yoed N.] Bar Ilan Univ, Leslie & Susan Gonda Goldschmied Multidisciplinar, IL-52900 Ramat Gan, Israel.
[Faust, Miriam] Bar Ilan Univ, Dept Psychol, IL-52900 Ramat Gan, Israel.
RP Faust, M (reprint author), Bar Ilan Univ, Leslie & Susan Gonda Goldschmied Multidisciplinar, Bldg 901, IL-52900 Ramat Gan, Israel.
EM faustm@mail.biu.ac.il
FU Israel Science Foundation (ISF) [724/09]; I-CORE Program of the Planning
and Budgeting Committee
FX We thank Dror Kenett for his helpful remarks on this manuscript. This
research was supported by the Israel Science Foundation (ISF) grant
(number 724/09) to Miriam Faust and partially supported by the I-CORE
Program of the Planning and Budgeting Committee.
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NR 100
TC 2
Z9 2
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 JUL 14
PY 2014
VL 8
AR 511
DI 10.3389/fnhum.2014.00511
PG 10
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AM7QQ
UT WOS:000340063100001
PM 25071534
ER
PT J
AU Marnetto, D
Molineris, I
Grassi, E
Provero, P
AF Marnetto, Davide
Molineris, Ivan
Grassi, Elena
Provero, Paolo
TI Genome-wide Identification and Characterization of Fixed Human-Specific
Regulatory Regions
SO AMERICAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
ID SEMANTIC SIMILARITY; GO TERMS; EVOLUTION; EXPRESSION; ELEMENTS; DNA;
STICKLEBACKS; HYPOTHESIS; DISORDERS; FOREBRAIN
AB Changes in gene regulatory networks are believed to have played an important role in the development of human-specific anatomy and behavior. We identified the human genome regions that show the typical chromatin marks of regulatory regions but cannot be aligned to other mammalian genomes. Most of these regions have become fixed in the human genome. Their regulatory targets are enriched in genes involved in neural processes, CNS development, and diseases such as autism, depression, and schizophrenia. Specific transposable elements contributing to the rewiring of the human regulatory network can be identified by the creation of human-specific regulatory regions. Our results confirm the relevance of regulatory evolution in the emergence of human traits and cognitive abilities and the importance of newly acquired genomic elements for such evolution.
C1 [Marnetto, Davide; Molineris, Ivan; Grassi, Elena; Provero, Paolo] Univ Turin, Dept Mol Biotechnol & Hlth Sci, I-10126 Turin, Italy.
[Provero, Paolo] Ist Sci San Raffaele, Ctr Translat Genom & Bioinformat, I-20132 Milan, Italy.
RP Provero, P (reprint author), Univ Turin, Dept Mol Biotechnol & Hlth Sci, I-10126 Turin, Italy.
EM paolo.provero@unito.it
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NR 43
TC 1
Z9 1
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0002-9297
EI 1537-6605
J9 AM J HUM GENET
JI Am. J. Hum. Genet.
PD JUL 13
PY 2014
VL 95
IS 1
BP 39
EP 48
DI 10.1016/j.ajhg.2014.05.011
PG 10
WC Genetics & Heredity
SC Genetics & Heredity
GA AL1RP
UT WOS:000338904100003
PM 24995867
ER
PT J
AU Liang, MK
Zhong, J
Liu, HX
Lopatina, O
Nakada, R
Yamauchi, AM
Higashida, H
AF Liang, Mingkun
Zhong, Jing
Liu, Hong-Xiang
Lopatina, Olga
Nakada, Ryusuke
Yamauchi, Agnes-Mikiko
Higashida, Haruhiro
TI Pairmate-dependent pup retrieval as parental behavior in male mice
SO FRONTIERS IN NEUROSCIENCE
LA English
DT Article
DE parental behavior; paternal care; pup retrieval behavior; paternity;
mouse
ID MEDIAL PREOPTIC AREA; AUTISM SPECTRUM DISORDER; BRAIN OXYTOCIN
SECRETION; PATERNAL BEHAVIOR; MATERNAL-BEHAVIOR;
PEROMYSCUS-CALIFORNICUS; NUCLEUS-ACCUMBENS; VENTRAL PALLIDUM; BIPARENTAL
CARE; SOCIAL-BEHAVIOR
AB Appropriate parental care by fathers can greatly facilitate healthy human family life. However, much less is known about paternal behavior in animals compared to those regarding maternal behavior. Previously, we reported that male ICR strain laboratory mice, although not spontaneously parental, can be induced to display maternal-like parental care (pup retrieval) when separated from their pups by signals from the pairmate dam (Liu et al., 2013). This parental behavior by the ICR sires, which are not genetically biparental, is novel and has been designated as pairmate-dependent paternal behavior. However, the factors critical for this paternal behavior are unclear. Here, we report that the pairmate-dependent paternal retrieval behavior is observed especially in the ICR strain and not in C57BL/6 or BALB/c mice. An ICR sire displays retrieval behavior only toward his biological pups. A sire co-housed with an unrelated non-pairing dam in a new environment, under which 38-kHz ultrasonic vocalizations are not detected, does not show parenting behavior. It is important for sires to establish their own home territory (cage) by continuous housing and testing to display retrieval behavior. These results indicated that the ICR sires display distinct paternity, including father-child social interaction, and shed light on parental behavior, although further analyses of paternal care at the neuroendocrinological and neurocircuitry levels are required.
C1 [Liang, Mingkun; Zhong, Jing; Liu, Hong-Xiang; Lopatina, Olga; Higashida, Haruhiro] Kanazawa Univ, Res Ctr Child Mental Dev, Dept Basic Res Social Recognit & Memory, Kanazawa, Ishikawa 9208640, Japan.
[Liang, Mingkun; Zhong, Jing; Nakada, Ryusuke; Yamauchi, Agnes-Mikiko] Kanazawa Univ, Grad Sch Med Sci, Dept Biophys Genet, Kanazawa, Ishikawa 9208640, Japan.
RP Higashida, H (reprint author), Kanazawa Univ, Res Ctr Child Mental Dev, Dept Basic Res Social Recognit & Memory, 13-1 Takara Machi, Kanazawa, Ishikawa 9208640, Japan.
EM haruhiro@med.kanazawa-u.ac.jp
FU Core Research for Evolutional Science and Technology (CREST) from the
Japan Science and Technology Agency; Strategic Research Program for
Brain Sciences from Ministry of Education, Culture, Sports, Science, and
Technology, Japan
FX This work was supported in part by the Core Research for Evolutional
Science and Technology (CREST) from the Japan Science and Technology
Agency and by the Strategic Research Program for Brain Sciences from
Ministry of Education, Culture, Sports, Science, and Technology, Japan.
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NR 65
TC 0
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-453X
J9 FRONT NEUROSCI-SWITZ
JI Front. Neurosci.
PD JUL 11
PY 2014
VL 8
AR 186
DI 10.3389/fnins.2014.00186
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AW8GE
UT WOS:000346498400001
PM 25071431
ER
PT J
AU Bacchelli, E
Ceroni, F
Pinto, D
Lomartire, S
Giannandrea, M
D'Adamo, P
Bonora, E
Parchi, P
Tancredi, R
Battaglia, A
Maestrini, E
AF Bacchelli, Elena
Ceroni, Fabiola
Pinto, Dalila
Lomartire, Silvia
Giannandrea, Maila
D'Adamo, Patrizia
Bonora, Elena
Parchi, Piero
Tancredi, Raffaella
Battaglia, Agatino
Maestrini, Elena
TI A CTNNA3 compound heterozygous deletion implicates a role for alpha
T-catenin in susceptibility to autism spectrum disorder
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder (ASD); CTNNA3; alpha T-catenin; Alpha
T-catenin; Cell adhesion; DNA copy number variants
ID ONSET ALZHEIMERS-DISEASE; REPEAT TRANSMEMBRANE PROTEINS; GENOME-WIDE
ASSOCIATION; COPY NUMBER VARIATIONS; COMMON FRAGILE SITES; RARE DE-NOVO;
CELL-ADHESION; GENES; EXPRESSION; VARIANTS
AB Background: Autism spectrum disorder (ASD) is a highly heritable, neurodevelopmental condition showing extreme genetic heterogeneity. While it is well established that rare genetic variation, both de novo and inherited, plays an important role in ASD risk, recent studies also support a rare recessive contribution.
Methods: We identified a compound heterozygous deletion intersecting the CTNNA3 gene, encoding alpha T-catenin, in a proband with ASD and moderate intellectual disability. The deletion breakpoints were mapped at base-pair resolution, and segregation analysis was performed. We compared the frequency of CTNNA3 exonic deletions in 2,147 ASD cases from the Autism Genome Project (AGP) study versus the frequency in 6,639 controls. Western blot analysis was performed to get a quantitative characterisation of Ctnna3 expression during early brain development in mouse.
Results: The CTNNA3 compound heterozygous deletion includes a coding exon, leading to a putative frameshift and premature stop codon. Segregation analysis in the family showed that the unaffected sister is heterozygote for the deletion, having only inherited the paternal deletion. While the frequency of CTNNA3 exonic deletions is not significantly different between ASD cases and controls, no homozygous or compound heterozygous exonic deletions were found in a sample of over 6,000 controls. Expression analysis of Ctnna3 in the mouse cortex and hippocampus (P0-P90) provided support for its role in the early stage of brain development.
Conclusion: The finding of a rare compound heterozygous CTNNA3 exonic deletion segregating with ASD, the absence of CTNNA3 homozygous exonic deletions in controls and the high expression of Ctnna3 in both brain areas analysed implicate CTNNA3 in ASD susceptibility.
C1 [Bacchelli, Elena; Ceroni, Fabiola; Lomartire, Silvia; Maestrini, Elena] Univ Bologna, Dept Pharm & Biotechnol, I-40126 Bologna, Italy.
[Pinto, Dalila] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA.
[Pinto, Dalila] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA.
[Pinto, Dalila] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA.
[Pinto, Dalila] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA.
[Giannandrea, Maila; D'Adamo, Patrizia] Ist Sci San Raffaele, Div Neurosci, Dulbecco Telethon Inst, I-20132 Milan, Italy.
[D'Adamo, Patrizia] Univ Vita Salute San Raffaele, I-20132 Milan, Italy.
[Bonora, Elena] Univ Bologna, S Orsola Malpighi Hosp, Dept Med & Surg Sci, Unit Med Genet, I-40138 Bologna, Italy.
[Parchi, Piero] IRCCS Inst Neurol Sci, I-40139 Bologna, Italy.
[Parchi, Piero] Univ Bologna, Dept Biomed & Neuromotor Sci, I-40139 Bologna, Italy.
[Tancredi, Raffaella; Battaglia, Agatino] Stella Maris Clin Res Inst Child & Adolescent Neu, I-56128 Pisa, Italy.
RP Maestrini, E (reprint author), Univ Bologna, Dept Pharm & Biotechnol, Via Selmi 3, I-40126 Bologna, Italy.
EM elena.maestrini@unibo.it
FU University of Bologna (RFO)
FX We gratefully acknowledge all the families who have participated in the
study, the professionals who made this study possible and the
international Autism Genome Project (AGP) Consortium for sharing
pre-publication CTNNA3 CNV data and controls and for advice. We wish to
thank Jolanda van Hengel for providing the anti-alpha T-catenin
polyclonal antibody. Funding for this work comes from the University of
Bologna (RFO).
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NR 55
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 JUL 10
PY 2014
VL 6
AR 17
DI 10.1186/1866-1955-6-17
PG 11
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AL6CG
UT WOS:000339219200001
PM 25050139
ER
PT J
AU Poliakov, E
Koonin, EV
Rogozin, IB
AF Poliakov, Eugenia
Koonin, Eugene V.
Rogozin, Igor B.
TI Impairment of translation in neurons as a putative causative factor for
autism
SO BIOLOGY DIRECT
LA English
DT Article
DE Synonymous mutations; Single nucleotide polymorphism; Codon usage;
Splicing enhancer; Splicing silencer; mRNA secondary structure;
Transcription factor binding; Neurotoxin
ID EXONIC SPLICING ENHANCERS; SYNONYMOUS CODON USAGE; HAZARDOUS
AIR-POLLUTANTS; RNA SECONDARY STRUCTURE; DE-NOVO MUTATIONS; SPECTRUM
DISORDERS; MOLECULAR CHAPERONES; PURIFYING SELECTION;
HUNTINGTONS-DISEASE; POSITIVE SELECTION
AB Background: A dramatic increase in the prevalence of autism and Autistic Spectrum Disorders (ASD) has been observed over the last two decades in USA, Europe and Asia. Given the accumulating data on the possible role of translation in the etiology of ASD, we analyzed potential effects of rare synonymous substitutions associated with ASD on mRNA stability, splicing enhancers and silencers, and codon usage.
Presentation of the hypothesis: We hypothesize that subtle impairment of translation, resulting in dosage imbalance of neuron-specific proteins, contributes to the etiology of ASD synergistically with environmental neurotoxins.
Testing the hypothesis: A statistically significant shift from optimal to suboptimal codons caused by rare synonymous substitutions associated with ASD was detected whereas no effect on other analyzed characteristics of transcripts was identified. This result suggests that the impact of rare codons on the translation of genes involved in neuron development, even if slight in magnitude, could contribute to the pathogenesis of ASD in the presence of an aggressive chemical background. This hypothesis could be tested by further analysis of ASD-associated mutations, direct biochemical characterization of their effects, and assessment of in vivo effects on animal models.
C1 [Poliakov, Eugenia] NEI, Retinal Cell & Mol Biol Lab, NIH, Bethesda, MD 20892 USA.
[Koonin, Eugene V.; Rogozin, Igor B.] NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20892 USA.
RP Koonin, EV (reprint author), NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bldg 10, Bethesda, MD 20892 USA.
EM koonin@ncbi.nlm.nih.gov; rogozin@ncbi.nlm.nih.gov
FU Intramural Research Program of the National Eye Institute; Intramural
Research Program of the National Library of Medicine at the National
Institutes of Health (US Department Health and Human Services)
FX This work was supported by the by the Intramural Research Program of the
National Eye Institute and the Intramural Research Program of the
National Library of Medicine at the National Institutes of Health (US
Department Health and Human Services).
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NR 124
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1745-6150
J9 BIOL DIRECT
JI Biol. Direct
PD JUL 10
PY 2014
VL 9
AR 16
DI 10.1186/1745-6150-9-16
PG 13
WC Biology
SC Life Sciences & Biomedicine - Other Topics
GA AL3GX
UT WOS:000339016000001
PM 25011470
ER
PT J
AU Agam, Y
Vangel, M
Roffman, JL
Gallagher, PJ
Chaponis, J
Haddad, S
Goff, DC
Greenberg, JL
Wilhelm, S
Smoller, JW
Manoach, DS
AF Agam, Yigal
Vangel, Mark
Roffman, Joshua L.
Gallagher, Patience J.
Chaponis, Jonathan
Haddad, Stephen
Goff, Donald C.
Greenberg, Jennifer L.
Wilhelm, Sabine
Smoller, Jordan W.
Manoach, Dara S.
TI Dissociable Genetic Contributions to Error Processing: A Multimodal
Neuroimaging Study
SO PLOS ONE
LA English
DT Article
ID EVENT-RELATED FMRI; OBSESSIVE COMPULSIVE SCALE; DOPAMINE-D4 RECEPTOR
GENE; SURFACE-BASED ANALYSIS; HUMAN CEREBRAL-CORTEX;
METHYLENETETRAHYDROFOLATE REDUCTASE; ANTERIOR CINGULATE;
PARKINSONS-DISEASE; HEALTHY-VOLUNTEERS; PREFRONTAL CORTEX
AB Background: Neuroimaging studies reliably identify two markers of error commission: the error-related negativity (ERN), an event-related potential, and functional MRI activation of the dorsal anterior cingulate cortex (dACC). While theorized to reflect the same neural process, recent evidence suggests that the ERN arises from the posterior cingulate cortex not the dACC. Here, we tested the hypothesis that these two error markers also have different genetic mediation.
Methods: We measured both error markers in a sample of 92 comprised of healthy individuals and those with diagnoses of schizophrenia, obsessive-compulsive disorder or autism spectrum disorder. Participants performed the same task during functional MRI and simultaneously acquired magnetoencephalography and electroencephalography. We examined the mediation of the error markers by two single nucleotide polymorphisms: dopamine D4 receptor (DRD4) C-521T (rs1800955), which has been associated with the ERN and methylenetetrahydrofolate reductase (MTHFR) C677T (rs1801133), which has been associated with error-related dACC activation. We then compared the effects of each polymorphism on the two error markers modeled as a bivariate response.
Results: We replicated our previous report of a posterior cingulate source of the ERN in healthy participants in the schizophrenia and obsessive-compulsive disorder groups. The effect of genotype on error markers did not differ significantly by diagnostic group. DRD4 C-521T allele load had a significant linear effect on ERN amplitude, but not on dACC activation, and this difference was significant. MTHFR C677T allele load had a significant linear effect on dACC activation but not ERN amplitude, but the difference in effects on the two error markers was not significant.
Conclusions: DRD4 C-521T, but not MTHFR C677T, had a significant differential effect on two canonical error markers. Together with the anatomical dissociation between the ERN and error-related dACC activation, these findings suggest that these error markers have different neural and genetic mediation.
C1 [Agam, Yigal; Roffman, Joshua L.; Goff, Donald C.; Greenberg, Jennifer L.; Wilhelm, Sabine; Smoller, Jordan W.; Manoach, Dara S.] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Dept Psychiat, Boston, MA 02115 USA.
[Agam, Yigal; Vangel, Mark; Manoach, Dara S.] Harvard Univ, Sch Med, Athinoula A Martinos Ctr Biomed Imaging, Charlestown, MA USA.
[Gallagher, Patience J.; Chaponis, Jonathan; Haddad, Stephen; Smoller, Jordan W.] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Ctr Human Genet Res, Boston, MA USA.
RP Manoach, DS (reprint author), Harvard Univ, Massachusetts Gen Hosp, Sch Med, Dept Psychiat, Boston, MA 02115 USA.
EM dara@nmr.mgh.harvard.edu
FU NIH [F32 MH088081, K24MH094614, R01 MH67720]
FX This work was supported in part by NIH grants F32 MH088081 (YA);
K24MH094614 (JWS); and R01 MH67720 (DSM). 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 74
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 JUL 10
PY 2014
VL 9
IS 7
AR e101784
DI 10.1371/journal.pone.0101784
PG 11
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AK9RG
UT WOS:000338763800038
PM 25010186
ER
PT J
AU Budday, S
Raybaud, C
Kuhl, E
AF Budday, Silvia
Raybaud, Charles
Kuhl, Ellen
TI A mechanical model predicts morphological abnormalities in the
developing human brain
SO SCIENTIFIC REPORTS
LA English
DT Article
DE MECHANICAL ENGINEERING; COMPUTATIONAL BIOPHYSICS
ID SURFACE-BASED MORPHOMETRY; CEREBRAL-CORTEX; AXONAL ELONGATION; ADJOINING
SULCI; GROWTH; SCHIZOPHRENIA; GYRIFICATION; TISSUES; GYRUS; MRI
AB The developing human brain remains one of the few unsolved mysteries of science. Advancements in developmental biology, neuroscience, and medical imaging have brought us closer than ever to understand brain development in health and disease. However, the precise role of mechanics throughout this process remains underestimated and poorly understood. Here we show that mechanical stretch plays a crucial role in brain development. Using the nonlinear field theories of mechanics supplemented by the theory of finite growth, we model the human brain as a living system with a morphogenetically growing outer surface and a stretch-driven growing inner core. This approach seamlessly integrates the two popular but competing hypotheses for cortical folding: axonal tension and differential growth. We calibrate our model using magnetic resonance images from very preterm neonates. Our model predicts that deviations in cortical growth and thickness induce morphological abnormalities. Using the gyrification index, the ratio between the total and exposed surface area, we demonstrate that these abnormalities agree with the classical pathologies of lissencephaly and polymicrogyria. Understanding the mechanisms of cortical folding in the developing human brain has direct implications in the diagnostics and treatment of neurological disorders, including epilepsy, schizophrenia, and autism.
C1 [Budday, Silvia; Kuhl, Ellen] Stanford Univ, Dept Mech Engn, Stanford, CA 94305 USA.
[Raybaud, Charles] Hosp Sick Children, Div Neuroradiol, Toronto, ON M5G 1X8, Canada.
[Kuhl, Ellen] Stanford Univ, Dept Bioengn, Stanford, CA 94305 USA.
RP Kuhl, E (reprint author), Stanford Univ, Dept Mech Engn, Stanford, CA 94305 USA.
EM ekuhl@stanford.edu
RI Kuhl, Ellen/G-4444-2011
OI Kuhl, Ellen/0000-0002-6283-935X
FU National Science Foundation CAREER Award [CMMI 0952021]; National
Science Foundation INSPIRE Grant [1233054]; National Institutes of
Health [U54 GM072970]
FX This work was supported by the National Science Foundation CAREER Award
CMMI 0952021 and the INSPIRE Grant 1233054 and by the National
Institutes of Health Grant U54 GM072970 to E.K.
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NR 54
TC 4
Z9 4
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 JUL 10
PY 2014
VL 4
AR 5644
DI 10.1038/srep05644
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AK9RF
UT WOS:000338763700006
PM 25008163
ER
PT J
AU Karayannis, T
Au, E
Patel, JC
Kruglikov, I
Markx, S
Delorme, R
Heron, D
Salomon, D
Glessner, J
Restituito, S
Gordon, A
Rodriguez-Murillo, L
Roy, NC
Gogos, JA
Rudy, B
Rice, ME
Karayiorgou, M
Hakonarson, H
Keren, B
Huguet, G
Bourgeron, T
Hoeffer, C
Tsien, RW
Peles, E
Fishell, G
AF Karayannis, T.
Au, E.
Patel, J. C.
Kruglikov, I.
Markx, S.
Delorme, R.
Heron, D.
Salomon, D.
Glessner, J.
Restituito, S.
Gordon, A.
Rodriguez-Murillo, L.
Roy, N. C.
Gogos, J. A.
Rudy, B.
Rice, M. E.
Karayiorgou, M.
Hakonarson, H.
Keren, B.
Huguet, G.
Bourgeron, T.
Hoeffer, C.
Tsien, R. W.
Peles, E.
Fishell, G.
TI Cntnap4 differentially contributes to GABAergic and dopaminergic
synaptic transmission
SO NATURE
LA English
DT Article
ID CORTICAL INTERNEURONS; GABA(A) RECEPTORS; PREPULSE INHIBITION;
TOURETTES-SYNDROME; SCHIZOPHRENIA; SYNAPSES; NUMBER; ASSOCIATION;
LINKAGE; RELEASE
AB Although considerable evidence suggests that the chemical synapse is a lynchpin underlying affective disorders, how molecular insults differentially affect specific synaptic connections remains poorly understood. For instance, Neurexin 1a and 2 (NRXN1 and NRXN2) and CNTNAP2 (also known as CASPR2), all members of the neurexin superfamily of transmembrane molecules, have been implicated in neuropsychiatric disorders. However, their loss leads to deficits that have been best characterized with regard to their effect on excitatory cells(1,2). Notably, other disease-associated genes such as BDNF and ERBB4 implicate specific interneuron synapses in psychiatric disorders(3,4). Consistent with this, cortical interneuron dysfunction has been linked to epilepsy, schizophrenia and autism(5,6). Using a microarray screen that focused upon synapse-associated molecules, we identified Cntnap4 (contactin associated protein-like 4, also known as Caspr4) as highly enriched in developing murine interneurons. In this study we show that Cntnap4 is localized presynaptically and its loss leads to a reduction in the output of cortical parvalbumin (PV)-positive GABAergic (gamma-aminobutyric acid producing) basket cells. Paradoxically, the loss of Cntnap4 augments midbrain dopaminergic release in the nucleus accumbens. In Cntnap4 mutant mice, synaptic defects in these disease-relevant neuronal populations are mirrored by sensory-motor gating and grooming endophenotypes; these symptoms could be pharmacologically reversed, providing promise for therapeutic intervention in psychiatric disorders.
C1 [Karayannis, T.; Au, E.; Kruglikov, I.; Restituito, S.; Roy, N. C.; Rudy, B.; Hoeffer, C.; Tsien, R. W.; Fishell, G.] NYU, Dept Neurosci & Physiol, Neurosci Inst, New York, NY 10016 USA.
[Patel, J. C.; Rice, M. E.] NYU, Dept Neurosurg Neurosci & Physiol, Langone Med Ctr, New York, NY 10016 USA.
[Markx, S.; Rodriguez-Murillo, L.; Karayiorgou, M.] Columbia Univ Coll Phys & Surg, Dept Psychiat, New York, NY 10032 USA.
[Delorme, R.; Hakonarson, H.; Huguet, G.; Bourgeron, T.] Inst Pasteur, Human Genet & Cognit Funct Unit, F-75724 Paris, France.
[Delorme, R.; Huguet, G.; Bourgeron, T.] Inst Pasteur, URA Genes Synapses & Cognit 2182, CNRS, F-75724 Paris, France.
[Delorme, R.] Hop Robert Debre, AP HP, Dept Child & Adolescent Psychiat, F-75019 Paris, France.
[Heron, D.] Grp Hosp Pitie Salpetriere, AP HP, Unite Fonct Genet Med, Dept Genet & Cytogenet,Ctr Reference,CRicm,UMR S9, F-75013 Paris, France.
[Salomon, D.; Gordon, A.] Weizmann Inst Sci, Dept Mol Cell Biol, IL-76100 Rehovot, Israel.
[Glessner, J.] Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA.
[Roy, N. C.] Natl Inst Deafness & Other Commun Disorders, Sect Synapt Transmiss, NIH, Bethesda, MD 20892 USA.
[Gogos, J. A.] Columbia Univ, Med Ctr, Dept Physiol, New York, NY 10032 USA.
[Gogos, J. A.] Columbia Univ, Med Ctr, Dept Cellular Biophys & Neurosci, New York, NY 10032 USA.
[Keren, B.] Grp Hosp Pitie Salpetriere, AP HP, Unite Fonct Genet Chromosom, Dept Genet & Cytogenet,CRicm,UMR S975, F-75013 Paris, France.
[Huguet, G.; Bourgeron, T.] Univ Paris Diderot, Sorbonne Paris Cite, F-75005 Paris, France.
[Bourgeron, T.] FondaMental Fdn, F-94000 Creteil, France.
RP Fishell, G (reprint author), NYU, Dept Neurosci & Physiol, Neurosci Inst, New York, NY 10016 USA.
EM gordon.fishell@med.nyu.edu
RI Karayannis, Theofanis/O-5194-2014
FU NIH [R01 NS081297, R01 MH071679, R01 NS074972, P01 NS074972, R01
NS036362, R01 DA033811, NS30989, NS50220]; Simons Foundation [94534];
Attilio and Olympia Ricciardi Research Fund; Israel Science Foundation;
Patterson Trust; Roche; New York State through its NYSTEM initiative
[C024326]; Canadian Institutes of Health Research; NYU COE Addiction
Seed Grant; Institut Pasteur; INSERM; AP-HP; University Paris Diderot;
Bettencourt-Schueller foundation; Orange foundation; FondaMental
foundation; Conny-Maeva foundation; Cognacq-Jay foundation
FX The authors are grateful to R. Froemke for critically reading the
manuscript, to B. Benedetti, M. McKenzie Chang, L. Cobbs, B. A. Heller,
T. Petros and N. Yumoto (all NYU) for help with experiments and analysis
and to Charles Nicholson (NYU) for providing specialized software to
analyse Vmax. Research in the Fishell laboratory is supported by the NIH
(grants R01 NS081297, R01 MH071679, R01 NS074972, P01 NS074972 to B. R.
and G. F.) and the Simons Foundation (94534). The Rice laboratory is
supported by the NIH (grants R01 NS036362 and R01 DA033811) and the
Attilio and Olympia Ricciardi Research Fund. The Rudy laboratory is
supported by the NIH (NS30989). The Peles laboratory is supported by the
NIH (grant NS50220) and the Israel Science Foundation. T. K. support was
provided through postdoctoral fellowships from the Patterson Trust and
Roche. E. A. support was provided by New York State through its NYSTEM
initiative (C024326) and fellowship from Canadian Institutes of Health
Research. J.C.P support was provided by NYU COE Addiction Seed Grant.
This work was funded by the Institut Pasteur, INSERM, AP-HP, University
Paris Diderot and the Bettencourt-Schueller, Orange, FondaMental,
Conny-Maeva, Cognacq-Jay foundations.
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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 0028-0836
EI 1476-4687
J9 NATURE
JI Nature
PD JUL 10
PY 2014
VL 511
IS 7508
BP 236
EP +
DI 10.1038/nature13248
PG 19
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AK8AP
UT WOS:000338649800047
PM 24870235
ER
PT J
AU Gallagher, S
AF Gallagher, Shaun
TI In your face: transcendence in embodied interaction
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE interaction; face; ethics; transcendence; Levinas
ID MOBIUS SEQUENCE; IMITATION; RECOGNITION; PERCEPTION; INFANTS; NEWBORNS;
MEMORY
AB In cognitive psychology, studies concerning the face tend to focus on questions about face recognition, theory of mind (ToM) and empathy. Questions about the face, however, also fit into a very different set of issues that are central to ethics. Based especially on the work of Levinas, philosophers have come to see that reference to the face of another person can anchor conceptions of moral responsibility and ethical demand. Levinas points to a certain irreducibility and transcendence implicit in the face of the other. In this paper I argue that the notion of transcendence involved in this kind of analysis can be given a naturalistic interpretation by drawing on recent interactive approaches to social cognition found in developmental psychology, phenomenology, and the study of autism.
C1 [Gallagher, Shaun] Memphis State Univ, Dept Philosophy, Memphis, TN 38152 USA.
[Gallagher, Shaun] Univ Hertfordshire, Sch Humanities, Dept Philosophy, Hatfield AL10 9AB, Herts, England.
[Gallagher, Shaun] Univ Wollongong, Fac Law Humanities & Arts, Dept Philosophy, Wollongong, NSW, Australia.
RP Gallagher, S (reprint author), Memphis State Univ, Dept Philosophy, 331 Clement Hall, Memphis, TN 38152 USA.
EM s.gallagher@memphis.edu
FU Marie-Curie Initial Training Network, TESIS: toward an Embodied Science
of Inter Subjectivity [PEOPLE-2010-ITN, 264828]; Humboldt Foundation,
Anneliese Maier Research Award
FX This work is supported the Marie-Curie Initial Training Network," TESIS:
toward an Embodied Science of Inter Subjectivity" (FP7-PEOPLE-2010-ITN,
264828), and the Humboldt Foundation, Anneliese Maier Research Award. An
earlier version of this paper was presented at the Workshop on Other
Minds. St. Hilda's College, Oxford University (12 March 2013).
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NR 66
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD JUL 9
PY 2014
VL 8
AR 495
DI 10.3389/fnhum.2014.00495
PG 6
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AM7OO
UT WOS:000340057400001
PM 25071523
ER
PT J
AU Sansone, SM
Schneider, A
Bickel, E
Berry-Kravis, E
Prescott, C
Hessl, D
AF Sansone, Stephanie M.
Schneider, Andrea
Bickel, Erika
Berry-Kravis, Elizabeth
Prescott, Christina
Hessl, David
TI Improving IQ measurement in intellectual disabilities using true
deviation from population norms
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE IQ; Intellectual disability; Autism spectrum disorder; Fragile X
syndrome; Cognitive assessment
ID FRAGILE-X-SYNDROME; PERVASIVE DEVELOPMENTAL DISORDERS;
COGNITIVE-ABILITIES; MENTAL-RETARDATION; AUTISM; INTELLIGENCE; CHILDREN;
INDIVIDUALS; CARRIERS
AB Background: Intellectual disability (ID) is characterized by global cognitive deficits, yet the very IQ tests used to assess ID have limited range and precision in this population, especially for more impaired individuals.
Methods: We describe the development and validation of a method of raw z-score transformation (based on general population norms) that ameliorates floor effects and improves the precision of IQ measurement in ID using the Stanford Binet 5 (SB5) in fragile X syndrome (FXS; n = 106), the leading inherited cause of ID, and in individuals with idiopathic autism spectrum disorder (ASD; n = 205). We compared the distributional characteristics and Q-Q plots from the standardized scores with the deviation z-scores. Additionally, we examined the relationship between both scoring methods and multiple criterion measures.
Results: We found evidence that substantial and meaningful variation in cognitive ability on standardized IQ tests among individuals with ID is lost when converting raw scores to standardized scaled, index and IQ scores. Use of the deviation z-score method rectifies this problem, and accounts for significant additional variance in criterion validation measures, above and beyond the usual IQ scores. Additionally, individual and group-level cognitive strengths and weaknesses are recovered using deviation scores.
Conclusion: Traditional methods for generating IQ scores in lower functioning individuals with ID are inaccurate and inadequate, leading to erroneously flat profiles. However assessment of cognitive abilities is substantially improved by measuring true deviation in performance from standardization sample norms. This work has important implications for standardized test development, clinical assessment, and research for which IQ is an important measure of interest in individuals with neurodevelopmental disorders and other forms of cognitive impairment.
C1 [Sansone, Stephanie M.; Schneider, Andrea; Bickel, Erika; Hessl, David] Univ Calif Davis, Med Ctr, Med Invest Neurodev Disorders MIND Inst, Sacramento, CA 95817 USA.
[Berry-Kravis, Elizabeth; Prescott, Christina] Rush Univ, Med Ctr, Dept Pediat, Chicago, IL 60612 USA.
[Berry-Kravis, Elizabeth; Prescott, Christina] Rush Univ, Med Ctr, Dept Neurol Sci, Chicago, IL 60612 USA.
[Berry-Kravis, Elizabeth; Prescott, Christina] Rush Univ, Med Ctr, Dept Biochem, Chicago, IL 60612 USA.
[Hessl, David] Univ Calif Davis, Sch Med, Dept Psychiat & Behav Sci, Sacramento, CA 95817 USA.
[Schneider, Andrea] Univ Calif Davis, Sch Med, Dept Pediat, Sacramento, CA 95817 USA.
RP Hessl, D (reprint author), Univ Calif Davis, Med Ctr, Med Invest Neurodev Disorders MIND Inst, 2825 50th St, Sacramento, CA 95817 USA.
EM david.hessl@ucdmc.ucdavis.edu
FU National Institute of Mental Health [1U24MH081810]; UC Davis School of
Medicine Office; National Fragile X Foundation
FX We gratefully acknowledge the resources provided by the Autism Genetic
Resource Exchange (AGRE) Consortium and the participating AGRE families.
The Autism Genetic Resource Exchange 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 (PI). We thank Gale Roid (lead
author of the SB5), Elizabeth Allen (Director of Research and
Development at PRO-ED, Inc.), Ryan Butler and Tiffany Torigoe (AGRE),
and Shrikant Pandya (data entry at Rush). The UC Davis School of
Medicine Office of the Dean and a philanthropic donation from the
Fragile X LINKS Group of Greater Chicago in conjunction with the
National Fragile X Foundation supported this work.
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 30
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 JUL 8
PY 2014
VL 6
AR 16
DI 10.1186/1866-1955-6-16
PG 14
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA CC5ZL
UT WOS:000350444000001
ER
PT J
AU Schreiber, JM
Lanham, DC
Trescher, WH
Sparks, SE
Wassif, CA
Caffo, BS
Porter, FD
Tierney, E
Gropman, AL
Ewen, JB
AF Schreiber, John M.
Lanham, Diane C.
Trescher, William H.
Sparks, Susan E.
Wassif, Christopher A.
Caffo, Brian S.
Porter, Forbes D.
Tierney, Elaine
Gropman, Andrea L.
Ewen, Joshua B.
TI Variations in EEG discharges predict ADHD severity within individual
Smith-Lemli-Opitz patients
SO NEUROLOGY
LA English
DT Article
ID INTERICTAL EEG; EPILEPSY; CHILDREN; ABNORMALITIES; DIAGNOSIS
AB Objective: We sought to examine the prevalence of EEG abnormalities in Smith-Lemli-Opitz syndrome (SLOS) as well as the relationship between interictal epileptiform discharges (IEDs) and within-subject variations in attentional symptom severity.
Methods: In the context of a clinical trial for SLOS, we performed cross-sectional and repeated-measure observational studies of the relationship between EEG findings and cognitive/behavioral factors on 23 children (aged 4-17 years). EEGs were reviewed for clinical abnormalities, including IEDs, by readers blinded to participants' behavioral symptoms. Between-group differences in baseline characteristics of participants with and without IEDs were analyzed. Within-subject analyses examined the association between the presence of IEDs and changes in attention-deficit/hyperactivity disorder (ADHD) symptoms.
Results: Of 85 EEGs, 43 (51%) were abnormal, predominantly because of IEDs. Only one subject had documented clinical seizures. IEDs clustered in 13 subjects (57%), whereas 9 subjects (39%) had EEGs consistently free of IEDs. While there were no significant group differences in sex, age, intellectual disability, language level, or baseline ADHD symptoms, autistic symptoms tended to be more prevalent in the "IED" group (according to Autism Diagnostic Observation Schedule-2 criteria). Within individuals, the presence of IEDs on a particular EEG predicted, on average, a 27% increase in ADHD symptom severity.
Conclusions: Epileptiform discharges are common in SLOS, despite a relatively low prevalence of epilepsy. Fluctuations in the presence of epileptiform discharges within individual children with a developmental disability syndrome may be associated with fluctuations in ADHD symptomatology, even in the absence of clinical seizures.
C1 [Schreiber, John M.] NINDS, EEG Sect, NIH, Bethesda, MD 20892 USA.
[Sparks, Susan E.; Gropman, Andrea L.] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA.
[Wassif, Christopher A.] NICHD, Program Dev Endocrinol & Genet, NIH, Bethesda, MD USA.
[Lanham, Diane C.; Tierney, Elaine] Kennedy Krieger Inst, Dept Child & Adolescent Psychiat, Baltimore, MD USA.
[Trescher, William H.; Ewen, Joshua B.] Kennedy Krieger Inst, Dept Neurol & Dev Med, Baltimore, MD 21205 USA.
[Trescher, William H.; Ewen, Joshua B.] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA.
[Tierney, Elaine] Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA.
[Trescher, William H.; Porter, Forbes D.] Penn State Hershey Childrens Hosp, Dept Pediat Neurol, Hershey, PA USA.
[Caffo, Brian S.] Johns Hopkins Univ, Sch Publ Hlth, Dept Biostat, Baltimore, MD USA.
[Gropman, Andrea L.] Childrens Natl Med Ctr, Dept Neurol, Washington, DC 20010 USA.
[Gropman, Andrea L.] George Washington Univ Hlth Sci, Washington, DC USA.
RP Ewen, JB (reprint author), Kennedy Krieger Inst, Dept Neurol & Dev Med, Baltimore, MD 21205 USA.
EM Ewen@kennedykrieger.org
FU Autism Speaks; Eunice Kennedy Shriver National Institute of Child Health
and Human Development (NICHD); Kennedy Krieger/Johns Hopkins NICHD
Intellectual and Developmental Disabilities Research Center core grant
[P30 HD024061]; National Center for Advancing Translational Sciences
(NCATS), a component of the NIH [UL1 TR 000424-06]; NIH Roadmap for
Medical Research; Bench to Bedside award from the Office of Rare
Diseases; NIH Clinical Center; NICHD; National Institute of Neurological
Disorders and Stroke/NIH [K23 NS073626]
FX This research was supported by Autism Speaks, the intramural research
program of the Eunice Kennedy Shriver National Institute of Child Health
and Human Development (NICHD), and by the Kennedy Krieger/Johns Hopkins
NICHD Intellectual and Developmental Disabilities Research Center core
grant P30 HD024061. This publication was made possible by the Johns
Hopkins Institute for Clinical and Translational Research (ICTR), which
is funded in part by grant UL1 TR 000424-06 from the National Center for
Advancing Translational Sciences (NCATS), a component of the NIH, and
NIH Roadmap for Medical Research. Its contents are solely the
responsibility of the authors and do not necessarily represent the
official view of the Johns Hopkins ICTR, NCATS, or NIH. This project was
also supported by a Bench to Bedside award to F. D. P. from the Office
of Rare Diseases, NIH Clinical Center, and NICHD; and by National
Institute of Neurological Disorders and Stroke/NIH grant K23 NS073626
awarded to J.B.E.
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NR 30
TC 1
Z9 1
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0028-3878
EI 1526-632X
J9 NEUROLOGY
JI Neurology
PD JUL 8
PY 2014
VL 83
IS 2
BP 151
EP 159
PG 9
WC Clinical Neurology
SC Neurosciences & Neurology
GA AM8EI
UT WOS:000340103400041
PM 24920862
ER
PT J
AU Jeste, SS
Wu, JY
Senturk, D
Varcin, K
Ko, J
McCarthy, B
Shimizu, C
Dies, K
Vogel-Farley, V
Sahin, M
Nelson, CA
AF Jeste, Shafali Spurling
Wu, Joyce Y.
Senturk, Damla
Varcin, Kandice
Ko, Jordan
McCarthy, Brigid
Shimizu, Christina
Dies, Kira
Vogel-Farley, Vanessa
Sahin, Mustafa
Nelson, Charles A., III
TI Early developmental trajectories associated with ASD in infants with
tuberous sclerosis complex
SO NEUROLOGY
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; DIAGNOSTIC OBSERVATION SCHEDULE; SEIZURE
ONSET; BABY SIBLINGS; CHILDREN; EPILEPSY; RISK
AB Objective: We performed a longitudinal cohort study of infants with tuberous sclerosis complex (TSC), with the overarching goal of defining early clinical, behavioral, and biological markers of autism spectrum disorder (ASD) in this high-risk population.
Methods: Infants with TSC and typically developing controls were recruited as early as 3 months of age and followed longitudinally until 36 months of age. Data gathered at each time point included detailed seizure history, developmental testing using the Mullen Scales of Early Learning, and social-communication assessments using the Autism Observation Scale for Infants. At 18 to 36 months, a diagnostic evaluation for ASD was performed using the Autism Diagnostic Observation Schedule.
Results: Infants with TSC demonstrated delays confined to nonverbal abilities, particularly in the visual domain, which then generalized to more global delays by age 9 months. Twenty-two of 40 infants with TSC were diagnosed with ASD. Both 12-month cognitive ability and developmental trajectories over the second and third years of life differentiated the groups. By 12 months of age, the ASD group demonstrated significantly greater cognitive delays and a significant decline in nonverbal IQ from 12 to 36 months.
Conclusions: This prospective study characterizes early developmental markers of ASD in infants with TSC. The early delay in visual reception and fine motor ability in the TSC group as a whole, coupled with the decline in nonverbal ability in infants diagnosed with ASD, suggests a domain-specific pathway to ASD that can inform more targeted interventions for these high-risk infants.
C1 [Jeste, Shafali Spurling; Ko, Jordan; McCarthy, Brigid; Shimizu, Christina] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Dept Psychiat, Los Angeles, CA 90024 USA.
[Jeste, Shafali Spurling] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Dept Neurol, Los Angeles, CA 90024 USA.
[Wu, Joyce Y.] Univ Calif Los Angeles, Mattel Childrens Hosp, Div Pediat Neurol, Los Angeles, CA USA.
[Senturk, Damla] Univ Calif Los Angeles, Sch Publ Hlth, Dept Biostat, Los Angeles, CA 90024 USA.
[Varcin, Kandice; Vogel-Farley, Vanessa; Nelson, Charles A., III] Harvard Univ, Sch Med, Boston Childrens Hosp, Labs Cognit Neurosci, Boston, MA USA.
[Dies, Kira] Harvard Univ, Sch Med, Dept Neurol, Div Dev Med,Boston Childrens Hosp, Boston, MA 02115 USA.
[Sahin, Mustafa] Harvard Univ, Sch Med, Boston Childrens Hosp, FM Kirby Neurobiol Ctr, Boston, MA USA.
Harvard Univ, Sch Med, Dept Neurol, Boston Childrens Hosp, Boston, MA 02115 USA.
RP Jeste, SS (reprint author), Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Dept Psychiat, Los Angeles, CA 90024 USA.
EM Sjeste@mednet.ucla.edu
FU Department of Defense (DOD CDMRP TSCRP); UCLA CTSI [UL1RR033176]
FX Supported by the Department of Defense (DOD CDMRP TSCRP: 2011-2014) and
UCLA CTSI (UL1RR033176).
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NR 34
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0028-3878
EI 1526-632X
J9 NEUROLOGY
JI Neurology
PD JUL 8
PY 2014
VL 83
IS 2
BP 160
EP 168
PG 9
WC Clinical Neurology
SC Neurosciences & Neurology
GA AM8EI
UT WOS:000340103400042
ER
PT J
AU Castro, J
Garcia, RI
Kwok, S
Banerjee, A
Petravicz, J
Woodson, J
Mellios, N
Tropea, D
Sur, M
AF Castro, Jorge
Garcia, Rodrigo I.
Kwok, Showming
Banerjee, Abhishek
Petravicz, Jeremy
Woodson, Jonathan
Mellios, Nikolaos
Tropea, Daniela
Sur, Mriganka
TI Functional recovery with recombinant human IGF1 treatment in a mouse
model of Rett Syndrome
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
DE molecular therapeutic; respiration; synaptic function; male mice; female
mice
ID GROWTH-FACTOR-I; AUTISM SPECTRUM DISORDERS; MECP2 MUTANT MICE;
RESPIRATORY-FUNCTION; SYNDROME PHENOTYPES; BRAIN; NEURONS; PLASTICITY;
DEFICITS; INACTIVATION
AB Rett Syndrome is a neurodevelopmental disorder that arises from mutations in the X-linked gene methyl-CpG binding protein 2 (MeCP2). MeCP2 has a large number of targets and a wide range of functions, suggesting the hypothesis that functional signaling mechanisms upstream of synaptic and circuit maturation may contribute to our understanding of the disorder and provide insight into potential treatment. Here, we show that insulin-like growth factor-1 (IGF1) levels are reduced in young male Mecp2-null (Mecp2(-/y)) mice, and systemic treatment with recombinant human IGF1 (rhIGF1) improves lifespan, locomotor activity, heart rate, respiration patterns, and social and anxiety behavior. Furthermore, Mecp2-null mice treated with rhIGF1 show increased synaptic and activated signaling pathway proteins, enhanced cortical excitatory synaptic transmission, and restored dendritic spine densities. IGF1 levels are also reduced in older, fully symptomatic heterozygous (Mecp2(-/+)) female mice, and short-term treatment with rhIGF1 in these animals improves respiratory patterns, reduces anxiety levels, and increases exploratory behavior. In addition, rhIGF1 treatment normalizes abnormally prolonged plasticity in visual cortex circuits of adult Mecp2(-/+) female mice. Our results provide characterization of the phenotypic development of Rett Syndrome in a mouse model at the molecular, circuit, and organismal levels and demonstrate a mechanism-based therapeutic role for rhIGF1 in treating Rett Syndrome.
C1 [Castro, Jorge; Garcia, Rodrigo I.; Kwok, Showming; Banerjee, Abhishek; Petravicz, Jeremy; Woodson, Jonathan; Mellios, Nikolaos; Sur, Mriganka] MIT, Dept Brain & Cognit Sci, Picower Inst Learning & Memory, Cambridge, MA 02139 USA.
[Tropea, Daniela] St James Hosp, Trinity Ctr Hlth Sci, Neuropsychiat Genet Dept, Dublin D8, Ireland.
RP Sur, M (reprint author), MIT, Dept Brain & Cognit Sci, Picower Inst Learning & Memory, E25-618, Cambridge, MA 02139 USA.
EM msur@mit.edu
FU National Science Foundation [2388357]; Simons Center for the Social
Brain; National Institutes of Health; Simons Foundation
FX We thank Alexandra Clemente and Jitendra Sharma, along with members of
the M. S. laboratory, for technical assistance. This work was supported
by National Science Foundation Graduate Research Fellowship 2388357 (to
R. I. G.), a postdoctoral fellowship from the Simons Center for the
Social Brain (to S. K. and A. B.), and grants from the National
Institutes of Health and the Simons Foundation (to M.S.).
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NR 56
TC 5
Z9 7
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 JUL 8
PY 2014
VL 111
IS 27
BP 9941
EP 9946
DI 10.1073/pnas.1311685111
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AK6CH
UT WOS:000338514800056
PM 24958891
ER
PT J
AU Wesseling, H
Guest, PC
Lee, CM
Wong, EHF
Rahmoune, H
Bahn, S
AF Wesseling, Hendrik
Guest, Paul C.
Lee, Chi-Ming
Wong, Erik H. F.
Rahmoune, Hassan
Bahn, Sabine
TI Integrative proteomic analysis of the NMDA NR1 knockdown mouse model
reveals effects on central and peripheral pathways associated with
schizophrenia and autism spectrum disorders
SO MOLECULAR AUTISM
LA English
DT Article
DE ApoA1; Glutamate; Leptin; Major depressive disorder; Oligodendrocytes;
Proteomics; Serum biomarkers; SRMstats
ID GROWTH-FACTOR-I; HIPPOCAMPAL SYNAPTIC PLASTICITY; KINASE SUBSTRATE
MARCKS; PHENCYCLIDINE RAT MODEL; APOLIPOPROTEIN-A-I;
CEREBROSPINAL-FLUID; RECEPTOR FUNCTION; ANTIPSYCHOTIC-DRUGS; BRAIN
ABNORMALITIES; PREFRONTAL CORTEX
AB Background: Over the last decade, the transgenic N-methyl-D-aspartate receptor (NMDAR) NR1-knockdown mouse (NR1(neo-/-)) has been investigated as a glutamate hypofunction model for schizophrenia. Recent research has now revealed that the model also recapitulates cognitive and negative symptoms in the continuum of other psychiatric diseases, particularly autism spectrum disorders (ASD). As previous studies have mostly focussed on behavioural readouts, a molecular characterisation of this model will help to identify novel biomarkers or potential drug targets.
Methods: Here, we have used multiplex immunoassay analyses to investigate peripheral analyte alterations in serum of NR1(neo-/-) mice, as well as a combination of shotgun label-free liquid chromatography mass spectrometry, bioinformatic pathway analyses, and a shotgun-based 40-plex selected reaction monitoring (SRM) assay to investigate altered molecular pathways in the frontal cortex and hippocampus. All findings were cross compared to identify translatable findings between the brain and periphery.
Results: Multiplex immunoassay profiling led to identification of 29 analytes that were significantly altered in sera of NR1(neo-/-) mice. The highest magnitude changes were found for neurotrophic factors (VEGFA, EGF, IGF-1), apolipoprotein A1, and fibrinogen. We also found decreased levels of several chemokines. Following this, LC-MSE profiling led to identification of 48 significantly changed proteins in the frontal cortex and 41 in the hippocampus. In particular, MARCS, the mitochondrial pyruvate kinase, and CamKII-alpha were affected. Based on the combination of protein set enrichment and bioinformatic pathway analysis, we designed orthogonal SRM-assays which validated the abnormalities of proteins involved in synaptic long-term potentiation, myelination, and the ERK-signalling pathway in both brain regions. In contrast, increased levels of proteins involved in neurotransmitter metabolism and release were found only in the frontal cortex and abnormalities of proteins involved in the purinergic system were found exclusively in the hippocampus.
Conclusions: Taken together, this multi-platform profiling study has identified peripheral changes which are potentially linked to central alterations in synaptic plasticity and neuronal function associated with NMDAR-NR1 hypofunction. Therefore, the reported proteomic changes may be useful as translational biomarkers in human and rodent model drug discovery efforts.
C1 [Wesseling, Hendrik; Guest, Paul C.; Rahmoune, Hassan; Bahn, Sabine] Univ Cambridge, Dept Chem Engn & Biotechnol, Cambridge CB2 1QT, England.
[Lee, Chi-Ming; Wong, Erik H. F.] AstraZeneca, Wilmington, DE 19850 USA.
[Bahn, Sabine] Erasmus MC, Dept Neurosci, NL-3000 CA Rotterdam, Netherlands.
RP Bahn, S (reprint author), Univ Cambridge, Dept Chem Engn & Biotechnol, Tennis Court Rd, Cambridge CB2 1QT, England.
EM sb209@cam.ac.uk
FU Stanley Medical Research Institute (SMRI); Innovative Medicines
Initiative for Novel Methods leading to New Medications in Depression
and Schizophrenia (IMI NEWMEDS); Dutch Fund for Economic Structure
Reinforcement [0908]; Autism Speaks grant [6009]
FX This research was kindly supported by the Stanley Medical Research
Institute (SMRI), the Innovative Medicines Initiative for Novel Methods
leading to New Medications in Depression and Schizophrenia (IMI
NEWMEDS), the Dutch Fund for Economic Structure Reinforcement ((#0908)
the NeuroBasic PharmaPhenomics project), and the Autism Speaks grant
(#6009). Additional information is available at Molecular Autism's
website.
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NR 119
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 JUL 4
PY 2014
VL 5
AR 38
DI 10.1186/2040-2392-5-38
PG 17
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AM0YX
UT WOS:000339574700001
PM 25061506
ER
PT J
AU Kushki, A
Brian, J
Dupuis, A
Anagnostou, E
AF Kushki, Azadeh
Brian, Jessica
Dupuis, Annie
Anagnostou, Evdokia
TI Functional autonomic nervous system profile in children with autism
spectrum disorder
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism spectrum disorder; Autonomic nervous system; Heart rate;
Respiratory sinus arrhythmia
ID RESPIRATORY SINUS ARRHYTHMIA; HEART-RATE-VARIABILITY;
ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; ASPERGER-SYNDROME; SUSTAINED
ATTENTION; ANXIETY DISORDERS; RESPONSE-INHIBITION; REVISED VERSION;
SOCIAL ANXIETY; AMYGDALA
AB Background: Autonomic dysregulation has been recently reported as a feature of autism spectrum disorder (ASD). However, the nature of autonomic atypicalities in ASD remain largely unknown. The goal of this study was to characterize the cardiac autonomic profile of children with ASD across four domains affected in ASD (anxiety, attention, response inhibition, and social cognition), and suggested to be affected by autonomic dysregulation.
Methods: We compared measures of autonomic cardiac regulation in typically developing children (n = 34) and those with ASD (n = 40) as the children performed tasks eliciting anxiety, attention, response inhibition, and social cognition. Heart rate was used to quantify overall autonomic arousal, and respiratory sinus arrhythmia (RSA) was used as an index of vagal influences. Associations between atypical autonomic findings and intellectual functioning (Weschler scale), ASD symptomatology (Social Communication Questionnaire score), and co-morbid anxiety (Revised Children's Anxiety and Depression Scale) were also investigated.
Results: The ASD group had marginally elevated basal heart rate, and showed decreased heart rate reactivity to social anxiety and increased RSA reactivity to the social cognition task. In this group, heart rate reactivity to the social anxiety task was positively correlated with IQ and task performance, and negatively correlated with generalized anxiety. RSA reactivity in the social cognition task was positively correlated with IQ.
Conclusions: Our data suggest overall autonomic hyperarousal in ASD and selective atypical reactivity to social tasks.
C1 [Kushki, Azadeh; Brian, Jessica; Anagnostou, Evdokia] Bloorview Res Inst, Toronto, ON M4G 1R8, Canada.
[Kushki, Azadeh] Univ Toronto, Inst Biomat & Biomed Engn, Toronto, ON M5S 3G9, Canada.
[Dupuis, Annie] Hosp Sick Children, Toronto, ON M5G 1X8, Canada.
RP Kushki, A (reprint author), Bloorview Res Inst, 150 Kilgour Rd, Toronto, ON M4G 1R8, Canada.
EM akushki@hollandbloorview.ca
FU Ontario government
FX This research was conducted with the support of the Ontario Brain
Institute, an independent non-profit corporation, funded partially by
the Ontario government. The opinions, results, and conclusions are those
of the authors, and no endorsement by the Ontario Brain Institute is
intended or should be inferred. We would like to thank Krissy
Doyle-Thomas, Seth Sobel, Danielle D'Alessandro, Tom Nantis, Susan Day
Fragiadakis, Naomi Sklar, and Johnny Au for their contributions to the
study.
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NR 73
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 JUL 4
PY 2014
VL 5
AR 39
DI 10.1186/2040-2392-5-39
PG 10
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AL4AS
UT WOS:000339075800001
PM 25031832
ER
PT J
AU Keita, L
Guy, J
Berthiaume, C
Mottron, L
Bertone, A
AF Keita, Luc
Guy, Jacalyn
Berthiaume, Claude
Mottron, Laurent
Bertone, Armando
TI An early origin for detailed perception in Autism Spectrum Disorder:
biased sensitivity for high-spatial frequency information.
SO SCIENTIFIC REPORTS
LA English
DT Article
ID HIGH-FUNCTIONING INDIVIDUALS; VISUAL-ACUITY; CONTRAST SENSITIVITY; GABA
CONCENTRATION; ASPERGER-SYNDROME; DISCRIMINATION; CORTEX; BRAIN;
PERFORMANCE; MECHANISMS
AB Autistics demonstrate superior performances on several visuo-spatial tasks where local or detailed information processing is advantageous. Altered spatial filtering properties at an early level of visuo-spatial analysis may be a plausible perceptual origin for such detailed perception in Autism Spectrum Disorder. In this study, contrast sensitivity for both luminance and texture-defined vertically-oriented sine-wave gratings were measured across a range of spatial frequencies (0.5, 1, 2, 4 & 8 cpd) for autistics and non-autistic participants. Contrast sensitivity functions and peak frequency ratios were plotted and compared across groups. Results demonstrated that autistic participants were more sensitivity to luminance-defined, high spatial frequency gratings (8 cpd). A group difference in peak distribution was also observed as 35% of autistic participants manifested peak sensitivity for luminance-defined gratings of 4 cpd, compared to only 7% for the comparison group. These findings support that locally-biased perception in Autism Spectrum Disorder originates, at least in part, from differences in response properties of early spatial mechanisms favouring detailed spatial information processing.
C1 [Keita, Luc] Univ Montreal, Ctr Rech Neuropsychol & Cognit CERNEC, Montreal, PQ H3C 3J7, Canada.
[Guy, Jacalyn; Bertone, Armando] McGill Univ, Perceptual Neurosci Lab Autism & Dev, Montreal, PQ H3A 2T5, Canada.
[Guy, Jacalyn] McGill Univ, Integrated Program Neurosci, Montreal, PQ H3A 2T5, Canada.
[Berthiaume, Claude; Mottron, Laurent; Bertone, Armando] Univ Montreal, Ctr Excellence Pervas Dev Disorders CETEDUM, Montreal, PQ H3C 3J7, Canada.
[Berthiaume, Claude; Mottron, Laurent; Bertone, Armando] Univ Montreal, Dept Psychiat, Montreal, PQ H3C 3J7, Canada.
[Bertone, Armando] McGill Univ, Sch Appl Child Psychol, Dept Educ & Counselling Psychol, Montreal, PQ H3A 2T5, Canada.
RP Bertone, A (reprint author), McGill Univ, Perceptual Neurosci Lab Autism & Dev, Montreal, PQ H3A 2T5, Canada.
EM armando.bertone@mcgill.ca
FU Autism Speaks mentor-based fellowship; Canadian Institute for Health
Research operating Grant
FX This study was supported by funding from an Autism Speaks mentor-based
(L.M. and A.B.) fellowship to L.K. and a Canadian Institute for Health
Research operating Grant to L.M. and A.B. We thank all the participants
for their involvement in this project.
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NR 50
TC 1
Z9 1
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 JUL 4
PY 2014
VL 4
AR 5475
DI 10.1038/srep05475
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AK5ZL
UT WOS:000338506000001
PM 24993026
ER
PT J
AU Troyb, E
Rosenthal, M
Eigsti, IM
Kelley, E
Tyson, K
Orinstein, A
Barton, M
Fein, D
AF Troyb, Eva
Rosenthal, Michael
Eigsti, Inge-Marie
Kelley, Elizabeth
Tyson, Katherine
Orinstein, Alyssa
Barton, Marianne
Fein, Deborah
TI Executive functioning in individuals with a history of ASDs who have
achieved optimal outcomes
SO CHILD NEUROPSYCHOLOGY
LA English
DT Article
DE Outcome; Executive functioning; Optimal outcome; High-functioning
autism; Autism
ID AUTISTIC-CHILDREN; FOLLOW-UP; BEHAVIORAL TREATMENT; SPECTRUM DISORDERS;
ABOVE-AVERAGE; INTELLIGENCE; AGE; COMMUNICATION; INTERVENTION;
PERFORMANCE
AB Executive functioning (EF) is examined among children and adolescents once diagnosed with an autism spectrum disorder (ASD), but who no longer meet diagnostic criteria. These individuals have average social and language skills, receive minimal school support and are considered to have achieved "optimal outcomes" (OOs). Since residual impairments in these individuals might be expected in deficits central to autism, and in developmentally advanced skills, EF was examined in 34 individuals who achieved OOs, 43 individuals with high-functioning autism (HFA), and 34 typically developing (TD) peers. Groups were matched on age (M = 13.49), gender, and nonverbal IQ (NVIQ) but differed on verbal IQ (VIQ; HFA < TD, OO). On direct assessment, all three groups demonstrated average EF; however, the OO and HFA groups exhibited more impulsivity and less efficient planning and problem-solving than the TD group, and more HFA participants exhibited below average inhibition than did OO and TD participants. Parent-report measures revealed average EF among the OO and TD groups; however, the OO group exhibited more difficulty than the TD group on set-shifting and working memory. HFA participants demonstrated more difficulty on all parent-reported EF domains, with a clinical impairment in attention-shifting. Results suggest that EF in OO appears to be within the average range, even for functions that were impaired among individuals with HFA. Despite their average performance, however, the OO and TD groups differed on measures of impulsivity, set-shifting, problem-solving, working memory, and planning, suggesting that the OO group does not have the above-average EF scores of the TD group despite their high-average IQs.
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[Rosenthal, Michael] Child Mind Inst, New York, NY USA.
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[Fein, Deborah] Univ Connecticut, Dept Pediat, Farmington, CT USA.
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PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
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J9 CHILD NEUROPSYCHOL
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BP 378
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DI 10.1080/09297049.2013.799644
PG 20
WC Clinical Neurology
SC Neurosciences & Neurology
GA AF8VA
UT WOS:000334992500001
PM 23731181
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PT J
AU Hyman, SE
AF Hyman, Steven E.
TI How Far Can Mice Carry Autism Research?
SO CELL
LA English
DT Editorial Material
ID SYSTEMS; MOUSE
AB In the face of growing controversy about the utility of genetic mouse models of human disease, Rothwell et al. report on a shared mechanism by which two different neuroligin-3 mutations, associated with autism spectrum disorders in humans, produce an enhancement in motor learning. The open question is how much we can learn about human ills from such models.
C1 Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.
RP Hyman, SE (reprint author), Broad Inst MIT & Harvard, 75 Ames St, Cambridge, MA 02142 USA.
EM seh@harvard.edu
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NR 8
TC 2
Z9 2
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0092-8674
EI 1097-4172
J9 CELL
JI Cell
PD JUL 3
PY 2014
VL 158
IS 1
BP 13
EP 14
DI 10.1016/j.cell.2014.06.032
PG 2
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA AN9QQ
UT WOS:000340943100003
PM 24995974
ER
PT J
AU Rothwell, PE
Fuccillo, MV
Maxeiner, S
Hayton, SJ
Gokce, O
Lim, BK
Fowler, SC
Malenka, RC
Sudhof, TC
AF Rothwell, Patrick E.
Fuccillo, Marc V.
Maxeiner, Stephan
Hayton, Scott J.
Gokce, Ozgun
Lim, Byung Kook
Fowler, Stephen C.
Malenka, Robert C.
Suedhof, Thomas C.
TI Autism-Associated Neuroligin-3 Mutations Commonly Impair Striatal
Circuits to Boost Repetitive Behaviors
SO CELL
LA English
DT Article
ID NUCLEUS-ACCUMBENS; SYNAPTIC PATHOPHYSIOLOGY; BASAL GANGLIA; SOCIAL
REWARD; MOUSE MODEL; DE-NOVO; MICE; PLASTICITY; SKILL; ACQUISITION
AB In humans, neuroligin-3 mutations are associated with autism, whereas in mice, the corresponding mutations produce robust synaptic and behavioral changes. However, different neuroligin-3 mutations cause largely distinct phenotypes in mice, and no causal relationship links a specific synaptic dysfunction to a behavioral change. Using rotarod motor learning as a proxy for acquired repetitive behaviors in mice, we found that different neuroligin-3 mutations uniformly enhanced formation of repetitive motor routines. Surprisingly, neuroligin-3 mutations caused this phenotype not via changes in the cerebellum or dorsal striatum but via a selective synaptic impairment in the nucleus accumbens/ventral striatum. Here, neuroligin-3 mutations increased rotarod learning by specifically impeding synaptic inhibition onto D1-dopamine receptor-expressing but not D2-dopamine receptor-expressing medium spiny neurons. Our data thus suggest that different autism-associated neuroligin-3 mutations cause a common increase in acquired repetitive behaviors by impairing a specific striatal synapse and thereby provide a plausible circuit substrate for autism pathophysiology.
C1 [Rothwell, Patrick E.; Fuccillo, Marc V.; Maxeiner, Stephan; Gokce, Ozgun; Suedhof, Thomas C.] Stanford Univ, Sch Med, Dept Mol & Cellular Physiol, Stanford, CA 94305 USA.
[Rothwell, Patrick E.; Fuccillo, Marc V.; Hayton, Scott J.; Lim, Byung Kook; Malenka, Robert C.] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Nancy Pritzker Lab, Stanford, CA 94305 USA.
[Suedhof, Thomas C.] Stanford Univ, Sch Med, Howard Hughes Med Inst, Stanford, CA 94305 USA.
[Fowler, Stephen C.] Univ Kansas, Dept Pharmacol & Toxicol, Lawrence, KS 66045 USA.
RP Malenka, RC (reprint author), Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Nancy Pritzker Lab, Stanford, CA 94305 USA.
EM malenka@stanford.edu; tcs1@stanford.edu
FU NIMH [P50 MH086403, K99 MH099243, F32 MH096491]; Simons Foundation
FX We thank A. Darvishzadeh, A. Afjei, G. Sun, S. Ghosh, and N. Huang for
technical assistance, C. Foldy for advice, and all Malenka and Sudhof
lab members for helpful discussions. This work was supported by grants
from the NIMH (P50 MH086403 to R.C.M. and T.C.S., K99 MH099243 to
M.V.F., and F32 MH096491 to P.E.R.); initial stages were also supported
by the Simons Foundation (to R.C.M. and T.C.S.).
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TC 14
Z9 14
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0092-8674
EI 1097-4172
J9 CELL
JI Cell
PD JUL 3
PY 2014
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BP 198
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PG 15
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SC Biochemistry & Molecular Biology; Cell Biology
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TI Modeling a Genetic Risk for Schizophrenia in iPSCs and Mice Reveals
Neural Stem Cell Deficits Associated with Adherens Junctions and
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SO CELL STEM CELL
LA English
DT Article
ID COPY NUMBER VARIANTS; RECURRENT MICRODELETIONS; NEURONAL MIGRATION;
CEREBRAL-CORTEX; PROTEIN; AUTISM; DROSOPHILA; 15Q11.2; WAVE2;
PATHOGENESIS
AB Defects in brain development are believed to contribute toward the onset of neuropsychiatric disorders, but identifying specific underlying mechanisms has proven difficult. Here, we took a multifaceted approach to investigate why 15q11.2 copy number variants are prominent risk factors for schizophrenia and autism. First, we show that human iPSC-derived neural progenitors carrying 15q11.2 microdeletion exhibit deficits in adherens junctions and apical polarity. This results from haploinsufficiency of CYFIP1, a gene within 15q11.2 that encodes a subunit of the WAVE complex, which regulates cytoskeletal dynamics. In developing mouse cortex, deficiency in CYFIP1 and WAVE signaling similarly affects radial glial cells, leading to their ectopic localization outside of the ventricular zone. Finally, targeted human genetic association analyses revealed an epistatic interaction between CYFIP1 and WAVE signaling mediator ACTR2 and risk for schizophrenia. Our findings provide insight into how CYFIP1 regulates neural stem cell function and may contribute to the susceptibility of neuropsychiatric disorders.
C1 [Yoon, Ki-Jun; Ha Nam Nguyen; Kim, Nam-Shik; Wen, Zhexing; Makri, Georgia; Nauen, David; Park, Youngbin; Chung, Raeeun; Pekle, Eva; Zhang, Ce; Towe, Maxwell; Mohammed, Syed; Christian, Kimberly M.; Song, Hongjun; Ming, Guo-li] Johns Hopkins Univ, Sch Med, Inst Cell Engn, Baltimore, MD 21205 USA.
[Yoon, Ki-Jun; Kim, Nam-Shik; Wen, Zhexing; Makri, Georgia; Zhang, Ce; Krauss, Gregory; Christian, Kimberly M.; Weinberger, Daniel R.; Song, Hongjun; Ming, Guo-li] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA.
[Ha Nam Nguyen; Song, Hongjun; Ming, Guo-li] Johns Hopkins Univ, Sch Med, Grad Program Cellular & Mol Med, Baltimore, MD 21205 USA.
[Ursini, Gianluca; Zhang, Fengyu; Shin, Joo Heon; Kleinman, Joel E.; Hyde, Thomas M.; Weinberger, Daniel R.] Johns Hopkins Univ, Sch Med, Lieber Inst Brain Dev, Baltimore, MD 21205 USA.
[Nauen, David] Johns Hopkins Univ, Sch Med, Dept Pathol, Baltimore, MD 21205 USA.
[Lee, Yohan; Rapoport, Judith L.] NIMH, Child Psychiat Branch, Bethesda, MD 20892 USA.
[Rujescu, Dan] Univ Munich, Dept Psychiat, D-80336 Munich, Germany.
[St Clair, David] Univ Aberdeen, Royal Cornhill Hosp, Aberdeen AB25 2ZD, Scotland.
[Weinberger, Daniel R.; Song, Hongjun; Ming, Guo-li] Johns Hopkins Univ, Sch Med, Solomon H Snyder Dept Neurosci, Baltimore, MD 21205 USA.
RP Ming, GL (reprint author), Johns Hopkins Univ, Sch Med, Inst Cell Engn, Baltimore, MD 21205 USA.
EM shongju1@jhmi.edu; gming1@jhmi.edu
RI Wen, Zhexing/B-9313-2014
FU NIH [NS048271, HD069184, NS047344, MH087874, F31MH102978]; Brain and
Behavior Research Foundation (NARSAD); Maryland Stem Cell Research Fund
(MSCRF); Simons Foundation Autism Research Initiative (SFARI);
International Mental Health Research Organization (IMHRO); Lieber
Institute for Brain Development; NARSAD; MSCRF; HFSP
FX We would like to thank members of G.-l.M. and H.S. laboratories for
discussion, ICE stem cell core and H. Kim for generating some iPSC
lines, K. Ahn, T. Andersen, V. Villagomez, L. Liu, and Y. Cai for
technical support and help. This work was supported by NIH (NS048271,
HD069184), the Brain and Behavior Research Foundation (NARSAD), and the
Maryland Stem Cell Research Fund (MSCRF) (to G.-l. M.), the Simons
Foundation Autism Research Initiative (SFARI), NIH (NS047344, MH087874),
and the International Mental Health Research Organization (IMHRO) to H.
S., the Lieber Institute for Brain Development to D.R.W., J.E.K., and
T.M.H., NARSAD and MSCRF to K.M.C., by fellowships from HFSP to K-j.Y.
and MSCRF to G.M., N.-S.K., and Z.W., and from NIH (F31MH102978) to
H.N.N.
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NR 53
TC 6
Z9 6
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 1934-5909
EI 1875-9777
J9 CELL STEM CELL
JI Cell Stem Cell
PD JUL 3
PY 2014
VL 15
IS 1
BP 79
EP 91
DI 10.1016/j.stem.2014.05.003
PG 13
WC Cell & Tissue Engineering; Cell Biology
SC Cell Biology
GA AN8TX
UT WOS:000340878600013
PM 24996170
ER
PT J
AU Maskey, M
Lowry, J
Rodgers, J
McConachie, H
Parr, JR
AF Maskey, Morag
Lowry, Jessica
Rodgers, Jacqui
McConachie, Helen
Parr, Jeremy R.
TI Reducing Specific Phobia/Fear in Young People with Autism Spectrum
Disorders (ASDs) through a Virtual Reality Environment Intervention
SO PLOS ONE
LA English
DT Article
ID HIGH-FUNCTIONING AUTISM; COMORBID PSYCHIATRIC-DISORDERS; ANXIETY
DISORDERS; CONTROLLED-TRIAL; CHILDREN; ADOLESCENTS; SYMPTOMS; YOUTH;
POPULATION; RESPONSES
AB Anxiety is common in children with autism spectrum disorders (ASD), with specific fears and phobias one of the most frequent subtypes. Specific fears and phobias can have a serious impact on young people with ASD and their families. In this study we developed and evaluated a unique treatment combining cognitive behaviour therapy (CBT) with graduated exposure in a virtual reality environment (VRE). Nine verbally fluent boys with an ASD diagnosis and no reported learning disability, aged 7 to 13 years old, were recruited. Each had anxiety around a specific situation (e. g. crowded buses) or stimulus (e. g. pigeons). An individualised scene was recreated in our 'wrap-around' VRE. In the VRE participants were coached by a psychologist in cognitive and behavioural techniques (e.g. relaxation and breathing exercises) while the exposure to the phobia/fear stimulus was gradually increased as the child felt ready. Each child received four 20-30 minute sessions. After participating in the study, eight of the nine children were able to tackle their phobia situation. Four of the participants completely overcame their phobia. Treatment effects were maintained at 12 months. These results provide evidence that CBT with VRE can be a highly effective treatment for specific phobia/fear for some young people with ASD.
C1 [Maskey, Morag; Rodgers, Jacqui; Parr, Jeremy R.] Newcastle Univ, Inst Neurosci, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
[Lowry, Jessica; McConachie, Helen] Newcastle Univ, Inst Hlth & Soc, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
RP Maskey, M (reprint author), Newcastle Univ, Inst Neurosci, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
EM morag.maskey@ncl.ac.uk; Jeremy.parr@ncl.ac.uk
FU Newcastle University
FX Dr Morag Maskey has a Daphne Jackson Fellowship sponsored by Newcastle
University (http://www.daphnejackson.org/). 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 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 JUL 2
PY 2014
VL 9
IS 7
AR e100374
DI 10.1371/journal.pone.0100374
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO5BA
UT WOS:000341354100029
PM 24987957
ER
PT J
AU Ross, KA
AF Ross, Kenneth Andrew
TI Coherent Somatic Mutation in Autoimmune Disease
SO PLOS ONE
LA English
DT Article
ID SYSTEMIC-LUPUS-ERYTHEMATOSUS; AUTISM SPECTRUM DISORDERS; JUVENILE
IDIOPATHIC ARTHRITIS; INFLAMMATORY-BOWEL-DISEASE;
CORONARY-ARTERY-DISEASE; PRIMARY BILIARY-CIRRHOSIS;
NATURAL-KILLER-CELLS; MYELIN-ASSOCIATED GLYCOPROTEIN; ANTI-PITUITARY
ANTIBODIES; OF-FUNCTION MUTATIONS
AB Background: Many aspects of autoimmune disease are not well understood, including the specificities of autoimmune targets, and patterns of co-morbidity and cross-heritability across diseases. Prior work has provided evidence that somatic mutation caused by gene conversion and deletion at segmentally duplicated loci is relevant to several diseases. Simple tandem repeat (STR) sequence is highly mutable, both somatically and in the germ-line, and somatic STR mutations are observed under inflammation.
Results: Protein-coding genes spanning STRs having markers of mutability, including germ-line variability, high total length, repeat count and/or repeat similarity, are evaluated in the context of autoimmunity. For the initiation of autoimmune disease, antigens whose autoantibodies are the first observed in a disease, termed primary autoantigens, are informative. Three primary autoantigens, thyroid peroxidase (TPO), phogrin (PTPRN2) and filaggrin (FLG), include STRs that are among the eleven longest STRs spanned by protein-coding genes. This association of primary autoantigens with long STR sequence is highly significant (p<3.0 x 10(-7)). Long STRs occur within twenty genes that are associated with sixteen common autoimmune diseases and atherosclerosis. The repeat within the TTC34 gene is an outlier in terms of length and a link with systemic lupus erythematosus is proposed.
Conclusions: The results support the hypothesis that many autoimmune diseases are triggered by immune responses to proteins whose DNA sequence mutates somatically in a coherent, consistent fashion. Other autoimmune diseases may be caused by coherent somatic mutations in immune cells. The coherent somatic mutation hypothesis has the potential to be a comprehensive explanation for the initiation of many autoimmune diseases.
C1 Columbia Univ, Dept Comp Sci, New York, NY 10027 USA.
RP Ross, KA (reprint author), Columbia Univ, Dept Comp Sci, New York, NY 10027 USA.
EM kar@cs.columbia.edu
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NR 462
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 JUL 2
PY 2014
VL 9
IS 7
AR e101093
DI 10.1371/journal.pone.0101093
PG 24
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO5BA
UT WOS:000341354100059
PM 24988487
ER
PT J
AU van de Leemput, J
Boles, NC
Kiehl, TR
Corneo, B
Lederman, P
Menon, V
Lee, C
Martinez, RA
Levi, BP
Thompson, CL
Yao, SY
Kaykas, A
Temple, S
Fasano, CA
AF van de Leemput, Joyce
Boles, Nathan C.
Kiehl, Thomas R.
Corneo, Barbara
Lederman, Patty
Menon, Vilas
Lee, Changkyu
Martinez, Refugio A.
Levi, Boaz P.
Thompson, Carol L.
Yao, Shuyuan
Kaykas, Ajamete
Temple, Sally
Fasano, Christopher A.
TI CORTECON: A Temporal Transcriptome Analysis of In Vitro Human Cerebral
Cortex Development from Human Embryonic Stem Cells
SO NEURON
LA English
DT Article
ID MESSENGER-RNA EXPRESSION; CENTRAL-NERVOUS-SYSTEM; CORTICAL DEVELOPMENT;
HUMAN BRAIN; NEOCORTICAL NEURONOGENESIS; SIGNALING PATHWAY; AUTISM;
DIFFERENTIATION; NEURONS; GENE
AB Many neurological and psychiatric disorders affect the cerebral cortex, and a clearer understanding of the molecular processes underlying human corticogenesis will provide greater insight into such pathologies. To date, knowledge of gene expression changes accompanying corticogenesis is largely based on murine data. Here we present a searchable, comprehensive, temporal gene expression data set encompassing cerebral cortical development from human embryonic stem cells (hESCs). Using a modified differentiation protocol that yields neurons suggestive of prefrontal cortex, we identified sets of genes and long noncoding RNAs that significantly change during corticogenesis and those enriched for disease-associations. Numerous alternatively spliced genes with varying temporal patterns of expression are revealed, including TGIF1, involved in holoprosencephaly, and MARK1, involved in autism. We have created a database (http://cortecon.neuralsci.org/) that provides online, query-based access to changes in RNA expression and alternatively spliced transcripts during human cortical development.
C1 [van de Leemput, Joyce; Boles, Nathan C.; Kiehl, Thomas R.; Corneo, Barbara; Lederman, Patty; Temple, Sally; Fasano, Christopher A.] Neural Stem Cell Inst, Rensselaer, NY 12144 USA.
[Kiehl, Thomas R.] SUNY Albany, Coll Comp & Informat, Dept Comp Sci, Albany, NY 12144 USA.
[Menon, Vilas; Lee, Changkyu; Martinez, Refugio A.; Levi, Boaz P.; Thompson, Carol L.; Yao, Shuyuan; Kaykas, Ajamete] Allen Inst Brain Sci, Seattle, WA 98103 USA.
RP Temple, S (reprint author), Neural Stem Cell Inst, Rensselaer, NY 12144 USA.
EM sallytemple@neuralsci.org; chrisfasano@neuralsci.org
FU NINDS [NS072434-01A1]; Regenerative Research Foundation; Allen Institute
for Brain Science
FX This work was supported by grants from NINDS (NS072434-01A1 to C. A. F.)
and the Regenerative Research Foundation. This collaborative work was
supported in part by the Allen Institute for Brain Science. Its authors
wish to thank the Allen Institute founders, Paul G. Allen and Jody
Allen, for their vision, encouragement, and support.
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Z9 6
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PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0896-6273
EI 1097-4199
J9 NEURON
JI Neuron
PD JUL 2
PY 2014
VL 83
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BP 51
EP 68
DI 10.1016/j.neuron.2014.05.013
PG 18
WC Neurosciences
SC Neurosciences & Neurology
GA AN3HJ
UT WOS:000340476800007
PM 24991954
ER
PT J
AU Yamada, T
Yang, Y
Hemberg, M
Yoshida, T
Cho, HY
Murphy, JP
Fioravante, D
Regehr, WG
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Georgopoulos, K
Bonni, A
AF Yamada, Tomoko
Yang, Yue
Hemberg, Martin
Yoshida, Toshimi
Cho, Ha Young
Murphy, J. Patrick
Fioravante, Diasynou
Regehr, Wade G.
Gygi, Steven P.
Georgopoulos, Katia
Bonni, Azad
TI Promoter Decommissioning by the NuRD Chromatin Remodeling Complex
Triggers Synaptic Connectivity in the Mammalian Brain
SO NEURON
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; DE-NOVO MUTATIONS; HISTONE DEACETYLASE;
NEURAL DEVELOPMENT; MI-2/NURD COMPLEX; BREAST-CANCER; GRANULE CELL;
HUMAN GENOME; STEM-CELLS; DIFFERENTIATION
AB Precise control of gene expression plays fundamental roles in brain development, but the roles of chromatin regulators in neuronal connectivity have remained poorly understood. We report that depletion of the NuRD complex by in vivo RNAi and conditional knockout of the core NuRD subunit Chd4 profoundly impairs the establishment of granule neuron parallel fiber/Purkinje cell synapses in the rodent cerebellar cortex in vivo. By interfacing genome-wide sequencing of transcripts and ChIP-seq analyses, we uncover a network of repressed genes and distinct histone modifications at target gene promoters that are developmentally regulated by the NuRD complex in the cerebellum in vivo. Finally, in a targeted in vivo RNAi screen of NuRD target genes, we identify a program of NuRD-repressed genes that operate as critical regulators of presynaptic differentiation in the cerebellar cortex. Our findings define NuRD-dependent promoter decommissioning as a developmentally regulated programming mechanism that drives synaptic connectivity in the mammalian brain.
C1 [Yamada, Tomoko; Yang, Yue; Cho, Ha Young; Bonni, Azad] Washington Univ, Sch Med, Dept Anat & Neurobiol, St Louis, MO 63110 USA.
[Yamada, Tomoko; Yang, Yue; Cho, Ha Young; Fioravante, Diasynou; Regehr, Wade G.; Bonni, Azad] Harvard Univ, Sch Med, Dept Neurobiol, Boston, MA 02115 USA.
[Hemberg, Martin] Childrens Hosp Boston, Dept Ophthalmol, Boston, MA 02115 USA.
[Yoshida, Toshimi; Georgopoulos, Katia] Harvard Univ, Sch Med, Massachusetts Gen Hosp, Cutaneous Biol Res Ctr, Charlestown, MA 02129 USA.
[Gygi, Steven P.] Harvard Univ, Sch Med, Dept Cell Biol, Boston, MA 02115 USA.
RP Bonni, A (reprint author), Washington Univ, Sch Med, Dept Anat & Neurobiol, St Louis, MO 63110 USA.
EM bonni@wustl.edu
FU NIH [NS041021, AG000222, NS032405, NS007484]; Mathers Foundation; Japan
Society for the Promotion of Science; NCI [P30 CA91842]; ICTS/CTSA
[UL1TR000448]
FX We thank members of the Bonni laboratory for helpful discussions and
critical reading of the manuscript. Supported by NIH grant NS041021 (to
A. B.), the Mathers Foundation (to A. B.), the Japan Society for the
Promotion of Science (to T. Yamada), NIH training grant AG000222 (to
Y.Y.), NIH grant NS032405 (to W. G. R.), and NIH training grant NS007484
(to D. F.). We thank the Genome Technology Access Center at Washington
University, which is supported by NCI P30 CA91842 to the Siteman Cancer
Center and by ICTS/CTSA UL1TR000448.
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NR 45
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 JUL 2
PY 2014
VL 83
IS 1
BP 122
EP 134
DI 10.1016/j.neuron.2014.05.039
PG 13
WC Neurosciences
SC Neurosciences & Neurology
GA AN3HJ
UT WOS:000340476800012
PM 24991957
ER
PT J
AU Antzoulatos, EG
Miller, EK
AF Antzoulatos, Evan G.
Miller, Earl K.
TI Increases in Functional Connectivity between Prefrontal Cortex and
Striatum during Category Learning
SO NEURON
LA English
DT Article
ID BETA-BAND OSCILLATIONS; BASAL GANGLIA; GRANGER CAUSALITY; CORTICAL
NETWORK; BRAIN NETWORKS; TOP-DOWN; SYNCHRONIZATION; CATEGORIZATION;
ATTENTION; MEMORY
AB Functional connectivity between the prefrontal cortex (PFC) and striatum (STR) is thought critical for cognition and has been linked to conditions like autism and schizophrenia. We recorded from multiple electrodes in PFC and STR while monkeys acquired new categories. Category learning was accompanied by an increase in beta band synchronization of LFPs between, but not within, the PFC and STR. After learning, different pairs of PFC-STR electrodes showed stronger synchrony for one or the other category, suggesting category-specific functional circuits. This category-specific synchrony was also seen between PFC spikes and STR LFPs, but not the reverse, reflecting the direct monosynaptic connections from the PFC to STR. However, causal connectivity analyses suggested that the polysynaptic connections from STR to the PFC exerted a stronger overall influence. This supports models positing that the basal ganglia "train'' the PFC. Category learning may depend on the formation of functional circuits between the PFC and STR.
C1 [Antzoulatos, Evan G.; Miller, Earl K.] MIT, Dept Brain & Cognit Sci, Picower Inst Learning & Memory, Cambridge, MA 02139 USA.
[Antzoulatos, Evan G.] Univ Calif Davis, Dept Neurobiol Physiol & Behav, Ctr Neurosci, Davis, CA 95618 USA.
RP Antzoulatos, EG (reprint author), MIT, Dept Brain & Cognit Sci, Picower Inst Learning & Memory, E25-618, Cambridge, MA 02139 USA.
EM eantzoulatos@ucdavis.edu; ekmiller@mit.edu
RI Antzoulatos, Evan/D-3204-2012
OI Antzoulatos, Evan/0000-0002-7366-2078
FU National Institute of Mental Health [5R01MH065252-12]; Picower
Foundation
FX The authors thank B. Gray, S. Koopman, and D. Ouellette for technical
assistance; S. Brincat, J. Donoghue, S. Kornblith, R. Loonis, M.
Lundqvist, M. Moazami, V. Puig, J. Rose, J. Roy, and M. Silver for
helpful discussions; and M. Wicherski for comments on the manuscript.
This work was funded by the National Institute of Mental Health
(5R01MH065252-12) and the Picower Foundation.
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NR 50
TC 8
Z9 8
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 JUL 2
PY 2014
VL 83
IS 1
BP 216
EP 225
DI 10.1016/j.neuron.2014.05.005
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AN3HJ
UT WOS:000340476800019
PM 24930701
ER
PT J
AU Ichikawa, H
Kitazono, J
Nagata, K
Manda, A
Shimamura, K
Sakuta, R
Okada, M
Yamaguchi, MK
Kanazawa, S
Kakigi, R
AF Ichikawa, Hiroko
Kitazono, Jun
Nagata, Kenji
Manda, Akira
Shimamura, Keiichi
Sakuta, Ryoichi
Okada, Masato
Yamaguchi, Masami K.
Kanazawa, So
Kakigi, Ryusuke
TI Novel method to classify hemodynamic response obtained using
multi-channel fNIRS measurements into two groups: exploring the
combinations of channels
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE hemodynamic data; near-infrared spectroscopy (NIRS); support vector
machine (SVM); sparse modeling; attention-deficit/hyperactivity disorder
(ADHD); autism spectrum disorders (ASD)
ID NEAR-INFRARED SPECTROSCOPY; AUTISM SPECTRUM DISORDER; NEURAL
REPRESENTATION; FEATURE-SELECTION; INFANT BRAIN; FACE; CHILDREN;
RECOGNITION; SYMPTOMS; CLASSIFICATION
AB Near-infrared spectroscopy (NIRS) in psychiatric studies has widely demonstrated that cerebral hemodynamics differs among psychiatric patients. Recently we found that children with attention-deficit/hyperactivity disorder (ADHD) and children with autism spectrum disorders (ASD) showed different hemodynamic responses to their own mother's face. Based on this finding, we may be able to classify the hemodynamic data into two those groups and predict to which diagnostic group an unknown participant belongs. In the present study, we proposed a novel statistical method for classifying the hemodynamic data of these two groups. By applying a support vector machine (SVM), we searched the combination of measurement channels at which the hemodynamic response differed between the ADHD and the ASD children. The SVM found the optimal subset of channels in each data set and successfully classified the ADHD data from the ASD data. For the 24-dimensional hemodynamic data, two optimal subsets classified the hemodynamic data with 84% classification accuracy, while the subset contained all 24 channels classified with 62% classification accuracy. These results indicate the potential application of our novel method for classifying the hemodynamic data into two groups and revealing the combinations of channels that efficiently differentiate the two groups.
C1 [Ichikawa, Hiroko; Yamaguchi, Masami K.] Chuo Univ, Dept Psychol, Tokyo 1920393, Japan.
[Ichikawa, Hiroko; Yamaguchi, Masami K.] Chuo Univ, Res Dev Initiat, Tokyo 1920393, Japan.
[Ichikawa, Hiroko] Japan Soc Promot Sci, Tokyo, Japan.
[Kitazono, Jun; Nagata, Kenji; Manda, Akira; Okada, Masato] Univ Tokyo, Dept Complex Sci & Engn, Kashiwa, Chiba, Japan.
[Shimamura, Keiichi; Sakuta, Ryoichi] Dokkyo Med Univ, Koshigaya Hosp, Dept Pediat, Koshigaya, Japan.
[Shimamura, Keiichi; Sakuta, Ryoichi] Dokkyo Med Univ, Koshigaya Hosp, Ctr Child Dev & Psychosomat Med, Koshigaya, Japan.
[Okada, Masato] RIKEN, Brain Sci Inst, Wako, Saitama, Japan.
[Kanazawa, So] Japan Womens Univ, Dept Psychol, Kawasaki, Kanagawa, Japan.
[Kakigi, Ryusuke] Natl Inst Physiol Sci, Dept Integrat Physiol, Okazaki, Aichi 444, Japan.
RP Ichikawa, H (reprint author), Chuo Univ, Dept Psychol, 742-1 Higashi Nakano, Tokyo 1920393, Japan.
EM ichihiro@tamacc.chuo-u.ac.jp
FU MEXT KAKENHI [20119002, 23119708]; JSPS KAKENHI [25120009, 26120529,
25106506, 22700230, 10J06155, 24 7809]
FX This study was supported by Grant-in-Aid for Scientific Research on
Innovative Areas, "Face perception and recognition" from MEXT KAKENHI
(20119002 to Masami K. Yamaguchi, 23119708 to Masato Okada);
Grant-in-Aid for Scientific Research on Innovative Areas, "Sparse
Modeling" from JSPS KAKENHI (25120009 to Masato Okada and Kenji Nagata,
26120529 to Hiroko Ichikawa); Grant-in-Aid for Scientific Research on
Innovative Areas, "Exploring the Limits of Computation (ELC)" from JSPS
KAKENHI (25106506 to Kenji Nagata); Grant-in-Aid for Scientific Research
(A) from JSPS KAKENHI (20240020 to Masato Okada); Grant-in-Aid for Young
Scientists (B) from JSPS KAKENHI (22700230 to Kenji Nagata) and a
Grant-in-Aid for JSPS Fellows from JSPS KAKENHI (10J06155 to Jun
Kitazono, 24 7809 to Hiroko Ichikawa).
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NR 51
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 JUL 2
PY 2014
VL 8
AR 480
DI 10.3389/fnhum.2014.00480
PG 10
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AM7MZ
UT WOS:000340053100001
PM 25071510
ER
PT J
AU Dekker, V
Nauta, MH
Mulder, EJ
Timmerman, ME
de Bildt, A
AF Dekker, Vera
Nauta, Maaike H.
Mulder, Erik J.
Timmerman, Marieke E.
de Bildt, Annelies
TI A randomized controlled study of a social skills training for
preadolescent children with autism spectrum disorders: generalization of
skills by training parents and teachers?
SO BMC PSYCHIATRY
LA English
DT Article
DE Social skills training; Autism spectrum disorder; RCT; Primary school;
Treatment efficacy
ID HIGH-FUNCTIONING AUTISM; ASPERGERS-SYNDROME; INTERVENTION; PROGRAM;
EFFICACY
AB Background: Social skills training (SST) is a common intervention for children with autism spectrum disorders (ASDs) to improve their social and communication skills. Despite the fact that SSTs are often applied in clinical practice, the evidence for the effectiveness of these trainings for children with ASD is inconclusive. Moreover, long term outcome and generalization of learned skills are little evaluated. Additionally, there is no research on the influence of involvement of parents and teachers on effectiveness of SST and on the generalization of learned social skills to daily life. We expect parent and teacher involvement in SST to enhance treatment efficacy and to facilitate generalization of learned skills to daily life.
Method/Design: In a randomized controlled trial (RCT) with three conditions, 120 participants with ASD at the end of primary school (10-12 years of calendar age) have been randomized to SST, SST-PTI SST with Parent & Teacher Involvement), or care-as-usual. The SST consists of 18 group sessions of 1.5 hours for the children. In the SST-PTI condition, parents additionally participate in 8 parent sessions and parents and teachers are actively involved in homework assignments. Assessment takes place at three moments: before and immediately after the intervention period and at 6 months follow-up. Primary outcome is socialization, as an aspect of adaptive functioning. Secondary outcomes focus on specific social skills children learn during SST and on more general social skills pertaining to home and community settings from a multi informant perspective. Additionally, possible predictors of treatment outcome will be assessed.
Discussion: The current study is an RCT study evaluating SST in a large sample of Dutch children with ASD in a specific age range (10-12 years). Strengths of the study are the use of one manualized protocol, application of standardized and internationally used rating instruments, use of multiple raters, investigation of generalization of learned skills to daily life, and the evaluation of efficacy in the longer term by follow-up measures at 6 months after the end of training.
C1 [Dekker, Vera; Nauta, Maaike H.; Mulder, Erik J.; de Bildt, Annelies] Univ Groningen, Univ Med Ctr Groningen, Accare Groningen, Dept Child & Adolescent Psychiat, NL-9700 RB Groningen, Netherlands.
[Nauta, Maaike H.; Timmerman, Marieke E.] Univ Groningen, Dept Clin Psychol, NL-9712 TS Groningen, Netherlands.
RP Dekker, V (reprint author), Univ Groningen, Univ Med Ctr Groningen, Accare Groningen, Dept Child & Adolescent Psychiat, Hanzepl 1, NL-9700 RB Groningen, Netherlands.
EM v.dekker@accare.nl
FU Netherlands Organization for Health Research and Development (ZonMw)
[157003005]
FX This study has been funded by the Netherlands Organization for Health
Research and Development (ZonMw, nr 157003005). Barbara van den
Hoofdakker, Lianne van der Veen, Sjoukje van Warners, and Leonieke Vet
have developed the intervention protocols used in the study.
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American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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White SW, 2007, J AUTISM DEV DISORD, V37, P1858, DOI 10.1007/s10803-006-0320-x
Yoo HJ, AUTISM RES
NR 34
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-244X
J9 BMC PSYCHIATRY
JI BMC Psychiatry
PD JUL 2
PY 2014
VL 14
AR 189
DI 10.1186/1471-244X-14-189
PG 13
WC Psychiatry
SC Psychiatry
GA AL4PT
UT WOS:000339115600001
PM 24989854
ER
PT J
AU Smith, JD
Rho, JM
Masino, SA
Mychasiuk, R
AF Smith, Jacklyn D.
Rho, Jong M.
Masino, Susan A.
Mychasiuk, Richelle
TI Inchworming: A Novel Motor Stereotypy in the BTBR T+ Itpr3(tf/)J Mouse
Model of Autism
SO JOVE-JOURNAL OF VISUALIZED EXPERIMENTS
LA English
DT Article
DE Behavior; Issue 89; mice; inbred C57BL; social behavior; animal models;
autism; BTBR; motor stereotypy; repetitive
ID BEHAVIORS; MICE; ANXIETY
AB Autism Spectrum Disorder (ASD) is a behaviorally defined neurodevelopmental disorder characterized by decreased reciprocal social interaction, abnormal communication, and repetitive behaviors with restricted interest. As diagnosis is based on clinical criteria, any potentially relevant rodent models of this heterogeneous disorder should ideally recapitulate these diverse behavioral traits. The BTBR T+ Itpr(3tf)/J (BTBR) mouse is an established animal model of ASD, displaying repetitive behaviors such as increased grooming, as well as cognitive inflexibility. With respect to social interaction and interest, the juvenile play test has been employed in multiple rodent models of ASD. Here, we show that when BTBR mice are tested in a juvenile social interaction enclosure containing sawdust bedding, they display a repetitive synchronous digging motion. This repetitive motor behavior, referred to as "inchworming," was named because of the stereotypic nature of the movements exhibited by the mice while moving horizontally across the floor. Inchworming mice must use their fore- and hind-limbs in synchrony to displace the bedding, performing a minimum of one inward and one outward motion. Although both BTBR and C56BL/6J (B6) mice exhibit this behavior, BTBR mice demonstrate a significantly higher duration and frequency of inchworming and a decreased latency to initiate inchworming when placed in a bedded enclosure. We conclude that this newly described behavior provides a measure of a repetitive motor stereotypy that can be easily measured in animal models of ASD.
C1 [Smith, Jacklyn D.; Rho, Jong M.; Mychasiuk, Richelle] Univ Calgary, Fac Med, Alberta Childrens Hosp, Res Inst,Dept Paediat & Clin Neurosci, Calgary, AB T2N 1N4, Canada.
[Masino, Susan A.] Trin Coll, Dept Psychol, Neurosci Program, Cambridge, England.
RP Mychasiuk, R (reprint author), Univ Calgary, Fac Med, Alberta Childrens Hosp, Res Inst,Dept Paediat & Clin Neurosci, Calgary, AB T2N 1N4, Canada.
EM rmmychas@ucalgary.ca
FU Alberta Children's Hospital Foundation; Alberta Children's Hospital
Research Institute
FX The authors are grateful for the technical and logistical assistance and
expertise provided by Rose Tobias, Younghee Ahn, and David N. Ruskin.
The work described here was funded by the Alberta Children's Hospital
Foundation and the Alberta Children's Hospital Research Institute.
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NR 12
TC 0
Z9 0
PU JOURNAL OF VISUALIZED EXPERIMENTS
PI CAMBRIDGE
PA 1 ALEWIFE CENTER, STE 200, CAMBRIDGE, MA 02140 USA
SN 1940-087X
J9 JOVE-J VIS EXP
JI J. Vis. Exp.
PD JUL
PY 2014
IS 89
AR e50791
DI 10.3791/50791
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA CB0DR
UT WOS:000349296100005
ER
PT J
AU Banda, DR
Griffin-Shirley, N
Okungu, PA
Ogot, OP
Meeks, MK
AF Banda, Devender R.
Griffin-Shirley, Nora
Okungu, Phoebe A.
Ogot, Orpa P.
Meeks, Melanie K.
TI A Review of Intervention Studies Conducted with Individuals with Autism
and Sensory Impairments
SO JOURNAL OF VISUAL IMPAIRMENT & BLINDNESS
LA English
DT Review
ID EXCHANGE COMMUNICATION-SYSTEM; CONGENITALLY BLIND-CHILDREN; APPLIED
BEHAVIOR ANALYSIS; SINGLE-SUBJECT RESEARCH; SPECTRUM DISORDER; VISUAL
IMPAIRMENT; DISABILITIES; PREFERENCES; ACQUISITION; DIAGNOSIS
AB Introduction: Recently, there has been heightened interest in individuals with autism and sensory impairments, and interventions that affect this population. To date, no reviews have analyzed intervention studies, and the present study adds to intervention research literature. Methods: Based on an electronic search, eight studies were included in the review. Results: The results indicated that four of the studies focused on communication skills, while the other four targeted problem behaviors. All participants made progress in communication and showed improvements in their behaviors. Discussion: Although positive results were seen in all participants, the studies suffer from methodological limitations. Thus, future research is needed to replicate studies as well as provide maintenance and generalization data. Implications for practitioners: Some suggestions are to include preference assessments prior to the development of intervention studies to create a modified picture exchange communication system with tangible objects or symbols.
C1 [Banda, Devender R.] Texas Tech Univ, Coll Educ, Dept Educ Psychol & Leadership, Lubbock, TX 79409 USA.
[Griffin-Shirley, Nora; Okungu, Phoebe A.; Ogot, Orpa P.] Texas Tech Univ, Coll Educ, Lubbock, TX 79409 USA.
RP Banda, DR (reprint author), Texas Tech Univ, Coll Educ, Dept Educ Psychol & Leadership, POB 41071, Lubbock, TX 79409 USA.
EM devender.banda@ttu.edu; n.griffin-shirley@ttu.edu;
phoebe.okungu@ttu.edu; orpatieno@yahoo.com; melaniekmeeks@yahoo.com
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NR 45
TC 0
Z9 0
PU AMER FOUNDATION BLIND
PI NEW YORK
PA J VISUAL IMPAIRMENT BLINDNESS 2 PENN PLAZA, SUITE 1102, NEW YORK, NY
10121 USA
SN 0145-482X
EI 1559-1476
J9 J VISUAL IMPAIR BLIN
JI J. Vis. Impair. Blind.
PD JUL-AUG
PY 2014
VL 108
IS 4
BP 299
EP 309
PG 11
WC Rehabilitation
SC Rehabilitation
GA CA8RW
UT WOS:000349189600005
ER
PT J
AU Farah, R
Schmithorst, VJ
Keith, RW
Holland, SK
AF Farah, Rola
Schmithorst, Vincent J.
Keith, Robert W.
Holland, Scott K.
TI Altered white matter microstructure underlies listening difficulties in
children suspected of auditory processing disorders: a DTI study
SO BRAIN AND BEHAVIOR
LA English
DT Article
DE Attention; auditory processing disorder; dichotic listening; diffusion
tensor imaging; listening difficulties
ID DEFICIT-HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDER;
CORPUS-CALLOSUM; LANGUAGE LATERALIZATION; HUMAN BRAIN; SPEECH
LATERALIZATION; COGNITIVE CONTROL; SPINAL-CORD; DIFFUSION; ATTENTION
AB Introduction: The purpose of the present study was to identify biomarkers of listening difficulties by investigating white matter microstructure in children suspected of auditory processing disorder (APD) using diffusion tensor imaging (DTI). Behavioral studies have suggested that impaired cognitive and/or attention abilities rather than a pure sensory processing deficit underlie listening difficulties and auditory processing disorder (APD) in children. However, the neural signature of listening difficulties has not been investigated. Methods: Twelve children with listening difficulties and atypical left ear advantage (LEA) in dichotic listening and twelve age- and gender-matched typically developing children with typical right ear advantage (REA) were tested. Using voxel-based analysis, fractional anisotropy (FA), and mean, axial and radial diffusivity (MD, AD, RD) maps were computed and contrasted between the groups. Results: Listening difficulties were associated with altered white matter microstructure, reflected by decreased FA in frontal multifocal white matter regions centered in prefrontal cortex bilaterally and left anterior cingulate. Increased RD and decreased AD accounted for the decreased FA, suggesting delayed myelination in frontal white matter tracts and disrupted fiber organization in the LEA group. Furthermore, listening difficulties were associated with increased MD (with increase in both RD and AD) in the posterior limb of the internal capsule (sublenticular part) at the auditory radiations where auditory input is transmitted between the thalamus and the auditory cortex. Conclusions: Our results provide direct evidence that listening difficulties in children are associated with altered white matter microstructure and that both sensory and supramodal deficits underlie the differences between the groups.
C1 [Farah, Rola] Cincinnati Childrens Hosp Med Ctr, Commun Sci Res Ctr, Cincinnati, OH 45229 USA.
[Farah, Rola; Keith, Robert W.] Univ Cincinnati, Coll Allied Hlth Sci, Dept Commun Sci & Disorders, Cincinnati, OH USA.
[Schmithorst, Vincent J.] UPMC, Childrens Hosp Pittsburgh, Dept Radiol, Pittsburgh, PA USA.
[Holland, Scott K.] Cincinnati Childrens Hosp Med Ctr, Dept Radiol, Pediat Neuroimaging Res Consortium, Cincinnati, OH 45229 USA.
RP Farah, R (reprint author), Cincinnati Childrens Hosp Med Ctr, Commun Sci Res Ctr, 3333 Burnet Ave, Cincinnati, OH 45229 USA.
EM Rola.farrah@cchmc.org
FU University of Cincinnati Research Council grant; Imaging Research Center
at Cincinnati Children's Hospital Medical Center
FX This work was supported in part by a University of Cincinnati Research
Council grant and by the Imaging Research Center at Cincinnati
Children's Hospital Medical Center.
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NR 82
TC 0
Z9 0
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 JUL
PY 2014
VL 4
IS 4
BP 531
EP 543
DI 10.1002/brb3.237
PG 13
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AX5NQ
UT WOS:000346973900008
PM 25161820
ER
PT J
AU Keselman, A
Smith, CA
Hundal, S
AF Keselman, Alla
Smith, Catherine Arnott
Hundal, Savreen
TI Library workers' personal beliefs about childhood vaccination and
vaccination information provision
SO JOURNAL OF THE MEDICAL LIBRARY ASSOCIATION
LA English
DT Article
ID CHILDREN; PARENTS
AB This is a report on the impact of library workers' personal beliefs on provision of vaccination information. Nine public librarians were interviewed about a hypothetical scenario involving a patron who is concerned about possible vaccination-autism connections. The analysis employed thematic coding. Results suggested that while most participants supported childhood vaccination, tension between their personal views and neutrality impacted their ability to conduct the interaction. The neutrality stance, though consonant with professional guidelines, curtails librarians' ability to provide accurate health information. Outreach and communication between public and health sciences libraries can help librarians provide resources to address health controversies.
C1 [Keselman, Alla] US Natl Lib Med, Div Specialized Informat Serv, Bethesda, MD 20892 USA.
[Smith, Catherine Arnott] Univ Wisconsin, Sch Lib & Informat Studies, Madison, WI 53706 USA.
[Hundal, Savreen] Ctr Publ Serv Commun, Claiborne, MD 21624 USA.
RP Keselman, A (reprint author), US Natl Lib Med, Div Specialized Informat Serv, 6707 Democracy Blvd,Suite 510, Bethesda, MD 20892 USA.
EM keselmana@mail.nih.gov; casmith24@wisc.edu; savreenhundal@gmail.com
CR Anderson AJ, 1990, LIB J, P115
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NR 16
TC 0
Z9 0
PU MEDICAL LIBRARY ASSOC
PI CHICAGO
PA 65 EAST WACKER PLACE, STE 1900, CHICAGO, IL 60601-7298 USA
SN 1536-5050
J9 J MED LIBR ASSOC
JI J. Med. Libr. Assoc.
PD JUL
PY 2014
VL 102
IS 3
BP 205
EP U73
DI 10.3163/1536-5050.102.3.012
PG 6
WC Information Science & Library Science
SC Information Science & Library Science
GA AW2UW
UT WOS:000346145700012
PM 25031563
ER
PT J
AU Sen, F
Oksar, RE
Golkarian, M
Yaldiz, S
AF Sen, Fatih
Oksar, Rustu Efe
Golkarian, Mina
Yaldiz, Sevde
TI Quality Changes of Different Sweet Cherry Cultivars at Various Stages of
the Supply Chain
SO NOTULAE BOTANICAE HORTI AGROBOTANICI CLUJ-NAPOCA
LA English
DT Article
DE antioxidants; firmness; marketing pitting; Prunus autism L;
transportation
ID PRUNUS-AVIUM L.; ANTIOXIDANT ACTIVITY; SHELF-LIFE; BING CHERRIES;
COLD-STORAGE; ATMOSPHERES; FRAP
AB Transportation of sweet cherry fruits to distant markets and further marketing processes often takes approximately 2-3 weeks. The present study investigates the quality changes during this time period at three stages for three sweet cherry cultivars: 'Early Burlat', 'Napoleon', and '0900 Ziraat'. Following pre-cooling, the sweet cherries were placed in modified atmosphere packages and exposed to the following stages for the indicated durations: transportation (T) [8 days at 2 C and 85% relative humidity (RH)]; distribution center (DC) (4 days at 6.5 C and 80% RH), and shelf-life (SL) (2 days at 19 C and 70% RH). Weight losses at the end of the SL stage were 3.11, 3.18, and 2.74%, respectively in 'Early Burlat', 'Napoleon' and '0900 Ziraai. Fruit firmness decreased after SL as compared CO that at other stages and was more remarkable in '0900 Ziraat'. Decreased Chroma values which indicates, the intensity or color saturation were observed in all cultivars, whereas decreased hue angle values colours expressed in degrees were observed in the 'Early Burlat' and '0900 Ziraat'. In addition, a decrease was noted in the titratable acidity of all cultivars at the end of SL. The total soluble solids, total phenolic content, and antioxidant activities were similar for all cultivars at all stages. The visual appearance scores of 'Early Burlat' cherries decreased at the end of SL, because of development of pitting on the fruit surface. The fruit quality changes were limited at T and DC stages; however, these changes became more distinctive during the SL period. It was thus concluded that the SL duration and conditions were of the highest significance with regard to maintenance of the sweet cherry fruit quality.
C1 [Sen, Fatih; Oksar, Rustu Efe; Golkarian, Mina; Yaldiz, Sevde] Ege Univ, Fac Agr, Dept Hort, TR-35100 Izmir, Turkey.
RP Sen, F (reprint author), Ege Univ, Fac Agr, Dept Hort, TR-35100 Izmir, Turkey.
EM fsenmacar@gmail.com
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Wani A. A., 2014, FOOD PACKAGING SHELF, V1, P86
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NR 34
TC 0
Z9 0
PU UNIV AGR SCI & VETERINARY MED CLUJ-NAPOCA
PI CLUJ-NAPOCA
PA 3-5 MANASTUR ST, CLUJ-NAPOCA, 400372, ROMANIA
SN 0255-965X
J9 NOT BOT HORTI AGROBO
JI Not. Bot. Horti Agrobot. Cluj-Na.
PD JUL-DEC
PY 2014
VL 42
IS 2
BP 501
EP 506
DI 10.1583/nbha4229596
PG 6
WC Plant Sciences
SC Plant Sciences
GA AW5PM
UT WOS:000346326700029
ER
PT J
AU Courgeon, M
Rautureau, G
Martin, JC
Grynszpan, O
AF Courgeon, Matthieu
Rautureau, Gilles
Martin, Jean-Claude
Grynszpan, Ouriel
TI Joint Attention Simulation Using Eye-Tracking and Virtual Humans
SO IEEE TRANSACTIONS ON AFFECTIVE COMPUTING
LA English
DT Article
DE Interaction techniques; virtual reality; evaluation/methodology;
handicapped persons/special needs
ID AUTISM SPECTRUM DISORDER; SOCIAL COGNITION; GAZE DIRECTION;
VISUAL-ATTENTION; CHILDREN; PERCEPTION; FIXATION; LOOKING; ADULTS;
PERFORMANCE
AB This article analyses the issues pertaining to the simulation of joint attention with virtual humans. Gaze represents a powerful communication channel illustrated by the pivotal role of joint attention in social interactions. To our knowledge, there have been only few attempts to simulate gazing patterns associated with joint attention as a mean for developing empathic virtual agents. Eye-tracking technologies now enable creating non-invasive gaze-contingent systems that empower the user with the ability to lead a virtual human's focus of attention in real-time. Although gaze control can be deliberate, most of our visual behaviors in everyday life are not. This article reports empirical data suggesting that users only have partial awareness of controlling gaze-contingent displays. The technical challenges induced by detecting the user's focus of attention in virtual reality are reviewed and several solutions are compared. We designed and tested a platform for creating virtual humans endowed with the ability to follow the user's attention. The article discusses the advantages of simulating joint attention for improving interpersonal skills and user engagement. Joint attention plays a major role in the development of autism. The platform we designed is intended for research and treatment of autism and tests included participants with this disorder.
C1 [Courgeon, Matthieu] Univ Bretagne Sud, Lab STICC, F-29238 Brest 3, France.
[Rautureau, Gilles] Hop La Pitie Salpetriere, Emot Ctr, CNRS, USR 3246, F-75651 Paris, France.
[Martin, Jean-Claude] Univ Paris 11, CNRS, LIMSI, F-91403 Orsay, France.
[Grynszpan, Ouriel] Univ Paris 06, Hop La Pitie Salpetriere, Emot Ctr, CNRS USR 3246, F-75651 Paris, France.
RP Courgeon, M (reprint author), Univ Bretagne Sud, Lab STICC, F-29238 Brest 3, France.
EM courgeon@gmail.com; gilles.rautureau@upmc.fr; martin@limsi.fr;
ouriel.grynszpan@upmc.fr
FU La Fondation Orange [71/2012]; La Fondation de France et La Fondation
Adrienne et Pierre Sommer [2007 005874]; L'Agence Nationale de la
Recherche [ANR 12 SAMA 011 01]
FX The authors wish to thank Rachel Dupuis and Aliye Karasu for
experimental assistance. We are very grateful to Jacqueline Nadel for
her advices in experimental design. This work was supported by grants
from La Fondation Orange (project #71/2012, coordinator: O. Grynszpan),
La Fondation de France et La Fondation Adrienne et Pierre Sommer
(project #2007 005874, coordinator: O. Grynszpan) and L'Agence Nationale
de la Recherche (project #ANR 12 SAMA 011 01, coordinator: P. Fossati).
The corresponding author is Ouriel Grynszpan (ouriel.grynszpan@upmc.fr).
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NR 69
TC 1
Z9 1
PU IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC
PI PISCATAWAY
PA 445 HOES LANE, PISCATAWAY, NJ 08855-4141 USA
SN 1949-3045
J9 IEEE T AFFECT COMPUT
JI IEEE Trans. Affect. Comput.
PD JUL-SEP
PY 2014
VL 5
IS 3
BP 238
EP 250
DI 10.1109/TAFFC.2014.2335740
PG 13
WC Computer Science, Artificial Intelligence; Computer Science, Cybernetics
SC Computer Science
GA AS9WP
UT WOS:000344589600005
ER
PT J
AU Wolter, JA
Timler, GR
AF Wolter, Julie A.
Timler, Geralyn R.
TI Issue Editor Foreword Focus on Meta Skills: Part 1. Morphological
Awareness and Assessment; Part 2. Autism and Concepts of Self
SO TOPICS IN LANGUAGE DISORDERS
LA English
DT Editorial Material
ID KNOWLEDGE; CHILDREN; INSTRUCTION; WORDS; READ
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 26
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0271-8294
EI 1550-3259
J9 TOP LANG DISORD
JI Top. Lang. Disord.
PD JUL-SEP
PY 2014
VL 34
IS 3
BP 191
EP 196
DI 10.1097/TLD.0000000000000024
PG 6
WC Linguistics; Rehabilitation
SC Linguistics; Rehabilitation
GA AT6CX
UT WOS:000345027700002
ER
PT J
AU Shopen, R
AF Shopen, Roey
TI The Case for Private Speech As a Mode of Self-Formation What Its Absence
Contributes to Understanding Autism
SO TOPICS IN LANGUAGE DISORDERS
LA English
DT Article
DE autism; private speech; self
ID THEORY-OF-MIND; SPECTRUM DISORDER; INNER SPEECH; CHILDREN; MEMORY;
RECOGNITION; ADULTS; ADOLESCENTS; DIFFICULTY; TASK
AB Private speech is common among 3- to 7-year-olds but rare among children with autism spectrum disorders (ASDs). Thus far, this phenomenon has only been studied in narrow cognitive contexts. This article presents a case for why the phenomenon of private speech is essential for the development of self and subjectivity and for why an analysis of private speech from this standpoint will enable a better and broader understanding of difficulties in the experience of self among individuals with ASD. The article discusses the importance of the concept of the self for development and presents evidence of limited concepts of self in autism. Furthermore, it surveys theories on the development of components essential to the development of the self (e.g., self-dialogue, inner speech). Finally, the article lays out a model for how to think about private speech in a broader framework related to individuals with ASD.
C1 Schneider Childrens Hosp, Psychol Med Mental Hlth Clin, IL-645321 Petah Tiqwa, Israel.
RP Shopen, R (reprint author), Schneider Childrens Hosp, Psychol Med Mental Hlth Clin, IL-645321 Petah Tiqwa, Israel.
EM roshpen@gmail.com
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NR 66
TC 2
Z9 2
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0271-8294
EI 1550-3259
J9 TOP LANG DISORD
JI Top. Lang. Disord.
PD JUL-SEP
PY 2014
VL 34
IS 3
BP 240
EP 251
DI 10.1097/TLD.0000000000000023
PG 12
WC Linguistics; Rehabilitation
SC Linguistics; Rehabilitation
GA AT6CX
UT WOS:000345027700006
ER
PT J
AU Timler, GR
Boone, WJ
Bergmann, AA
AF Timler, Geralyn R.
Boone, William J.
Bergmann, Amelia A.
TI Development of the Conversation Participation Rating Scale Intervention
Planning Implications for Two School-Age Children With Autism Spectrum
Disorders
SO TOPICS IN LANGUAGE DISORDERS
LA English
DT Article
DE autism spectrum disorders; conversation participation; school-age
children; social (pragmatic) communication disorders; WHO-ICF
ID SPEECH-LANGUAGE PATHOLOGY; HIGH-FUNCTIONING AUTISM; PRAGMATIC LANGUAGE;
SOCIAL-SKILLS; CONTROLLED-TRIAL; SELF; ADOLESCENTS; PERCEPTIONS;
QUALITY; ANXIETY
AB Purpose: School-age children with autism spectrum disorders (ASDs) have pervasive challenges in social interactions with peers. This study examined the feasibility of eliciting children's perceptions of their conversation participation with peers for the purposes of assessment and intervention planning. Methods: Two school-age children with ASD completed a newly developed self-report measure, the Conversation Participation Rating Scale (CPRS), designed for children and adolescents between the ages of 7 and 16 years, with social communication and peer interaction difficulties. Descriptive analyses examined agreement and discrepancy among child self-report, parent report, and standardized social language tests. Results: Both children provided a range of responses on the CPRS, revealing participation strengths as well as awareness of specific activity limitations and participation restrictions. Both children scored within the normal range on a social language test, even though parent report measures revealed significant concerns with pragmatic language and social skills. Discussion: The CPRS results contributed unique information to the assessment process. These results provide preliminary support for the feasibility of using a self-report conversation participation measure as a method for obtaining children's unique perspective of social communication activities and challenges in school settings.
C1 [Timler, Geralyn R.; Bergmann, Amelia A.] Miami Univ, Dept Speech Pathol & Audiol, Oxford, OH 45056 USA.
[Boone, William J.] Miami Univ, Dept Educ Psychol, Oxford, OH 45056 USA.
RP Timler, GR (reprint author), Miami Univ, Dept Speech Pathol & Audiol, 2 Bachelor Hall, Oxford, OH 45056 USA.
EM timlergr@miamioh.edu
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NR 48
TC 2
Z9 2
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0271-8294
EI 1550-3259
J9 TOP LANG DISORD
JI Top. Lang. Disord.
PD JUL-SEP
PY 2014
VL 34
IS 3
BP 252
EP 267
DI 10.1097/TLD.0000000000000021
PG 16
WC Linguistics; Rehabilitation
SC Linguistics; Rehabilitation
GA AT6CX
UT WOS:000345027700007
ER
PT J
AU Lotta, LT
Conrad, K
Cory-Slechta, D
Schor, NF
AF Lotta, L. T.
Conrad, K.
Cory-Slechta, D.
Schor, N. F.
TI Cerebellar Purkinje cell p75 neurotrophin receptor and autistic behavior
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID NERVE GROWTH-FACTOR; INTRACELLULAR DOMAIN; MICE; EXPRESSION; CHILDREN;
STRESS; DEPENDENCE; APOPTOSIS; NEURONS; SYSTEM
AB The p75 neurotrophin receptor (p75NTR) is normally expressed in cerebellar Purkinje cells throughout the lifespan. Children with autism spectrum behavior exhibit apparent cerebellar Purkinje cell loss. Cerebellar transcriptome changes seen in the murine prenatal valproate exposure model of autism include all of the proteins known to constitute the p75NTR interactome. p75NTR is a modulator of cytoplasmic and mitochondrial redox potential, and others have suggested that aberrant response to oxidant stress has a major role in the pathogenesis of autism. We have created Purkinje cell-selective p75NTR knockout mice that are the progeny of hemizygous Cre-Purkinje cell protein 2 C57Bl mice and p75NTR floxed C57Bl mice. These Cre-loxP mice exhibit complete knockout of p75NTR in similar to 50% of the cerebellar Purkinje cells. Relative to Cre-only mice and wild-type C57Bl mice, this results in a behavioral phenotype characterized by less allogrooming of (P < 0.05; one-way analysis of variance) and socialization or fighting with (each P < 0.05) other mice; less (1.2-fold) non-ambulatory exploration of their environment than wild-type (P < 0.01) or Cre only (P < 0.01) mice; and almost twofold more stereotyped jumping behavior than wild-type (P < 0.05) or Cre (P < 0.02) mice of the same strain. Wild-type mice have more complex dendritic arborization than Cre-loxP mice, with more neurites per unit area (P < 0.025, Student's t-test), more perpendicular branches per unit area (P < 0.025) and more short branches/long neurite (P < 0.0005). Aberrant developmental regulation of expression of p75NTR in cerebellar Purkinje cells may contribute to the pathogenesis of autism.
C1 [Lotta, L. T.; Conrad, K.; Cory-Slechta, D.; Schor, N. F.] Univ Rochester, Sch Med & Dent, Dept Pediat, Rochester, NY 14642 USA.
RP Schor, NF (reprint author), Univ Rochester, Med Ctr, 601 Elmwood Ave,POB 777, Rochester, NY 14642 USA.
EM Nina_Schor@urmc.rochester.edu
FU William H. Eilinger Endowment of the Golisano Children's Hospital at the
University of Rochester Medical Center; Strong Children's Research
Center Pilot Grant; NIH
FX We are grateful to Vesa Kaartinen for providing the p75NTR-floxed
founder mice for these studies and to Robert H Schor and Simeng Wang for
assistance with preparation of the figures. We also thank Christopher
Stodgell for pointing out the relationship between the p75NTR
interactome and the valproate model transcriptome. These studies were
funded by the William H. Eilinger Endowment of the Golisano Children's
Hospital at the University of Rochester Medical Center and by a Strong
Children's Research Center Pilot Grant. NFS and DC-S have been funded by
the NIH.
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NR 38
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 JUL
PY 2014
VL 4
AR e416
DI 10.1038/tp.2014.55
PG 6
WC Psychiatry
SC Psychiatry
GA AT3HP
UT WOS:000344826700013
PM 25072321
ER
PT J
AU Ritvo, ER
AF Ritvo, E. R.
TI Autism treatments proposed by clinical studies and human genetics are
complementary
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Letter
ID CHILDREN
C1 Univ Calif Los Angeles, Sch Med, Los Angeles, CA 90095 USA.
RP Ritvo, ER (reprint author), Univ Calif Los Angeles, Sch Med, Los Angeles, CA 90095 USA.
EM eritvo@aol.com
CR Crais ER, 2014, INT J SPEECH-LANG PA, V16, P23, DOI 10.3109/17549507.2013.862860
Lee H, 2014, HUM MOL GENET, V23, P3481, DOI 10.1093/hmg/ddu056
Lemonnier E, 2012, TRANSL PSYCHIAT, V2, DOI 10.1038/tp.2012.124
Wittkowski KM, 2014, TRANSL PSYCHIAT, V4, DOI 10.1038/tp.2013.124
NR 4
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 JUL
PY 2014
VL 4
AR e415
DI 10.1038/tp.2014.32
PG 1
WC Psychiatry
SC Psychiatry
GA AT3HP
UT WOS:000344826700012
PM 25072320
ER
PT J
AU Luke, S
Vail, CO
Ayres, KM
AF Luke, Sara
Vail, Cynthia O.
Ayres, Kevin M.
TI Using Antecedent Physical Activity to Increase On-Task Behavior in Young
Children
SO EXCEPTIONAL CHILDREN
LA English
DT Article
ID SELF-STIMULATORY BEHAVIOR; PRESCHOOL-CHILDREN; INAPPROPRIATE BEHAVIORS;
ACADEMIC-ACHIEVEMENT; EXERCISE; AUTISM; CLASSROOM; COGNITION; RECESS
AB A withdrawal design was used to investigate how physical activity affects on-task behavior of young children with significant developmental delays in a special education preschool classroom. Five preschool age children with significant developmental delays engaged in either physical activity or seated center activities for 20 min prior to a 15-min teacher-directed group activity. Momentary time sampling was used to calculate the percentage of intervals the participants were on-task using 15-s intervals. Results indicated all of the participants' on-task behavior was higher during the physical activity condition. These findings suggest physical activity may be used as a proactive behavioral intervention to improve the on-task behavior of young children with significant developmental delays during teacher-directed group activities.
C1 [Luke, Sara; Vail, Cynthia O.; Ayres, Kevin M.] Univ Georgia, Loganville, GA 30052 USA.
RP Luke, S (reprint author), Univ Georgia, POB 1447, Loganville, GA 30052 USA.
EM slukee@uga.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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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 0014-4029
EI 2163-5560
J9 EXCEPT CHILDREN
JI Except. Child.
PD JUL
PY 2014
VL 80
IS 4
BP 489
EP 503
DI 10.1177/0014402914527241
PG 15
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AR9YZ
UT WOS:000343934900008
ER
PT J
AU Davidson, C
AF Davidson, Colette
TI Management of autism in France: "a huge job to be done"
SO LANCET PSYCHIATRY
LA English
DT News Item
NR 0
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 2215-0374
J9 LANCET PSYCHIAT
JI Lancet Psychiatry
PD JUL
PY 2014
VL 1
IS 2
BP 113
EP 114
PG 2
WC Psychiatry
SC Psychiatry
GA AR6OP
UT WOS:000343703200017
ER
PT J
AU Cassidy, S
Bradley, P
Robinson, J
Allison, C
McHugh, M
Baron-Cohen, S
AF Cassidy, Sarah
Bradley, Paul
Robinson, Janine
Allison, Carrie
McHugh, Meghan
Baron-Cohen, Simon
TI Suicidal ideation and suicide plans or attempts in adults with
Asperger's syndrome attending a specialist diagnostic clinic: a clinical
cohort study
SO LANCET PSYCHIATRY
LA English
DT Article
ID FUNCTIONING AUTISM; DISORDERS; SPECTRUM; INDIVIDUALS; QUOTIENT; CHILDREN
AB Background Asperger's syndrome in adulthood is frequently associated with depression, but few studies have explored the lifetime experience of self-reported suicidal ideation and suicide plans or attempts in this clinical group. We aimed to assess this prevalence in a clinical cohort of patients in the UK.
Method In a clinical cohort study, we undertook a retrospective analysis of clinical survey data from adults newly diagnosed with Asperger's syndrome at a specialist diagnostic clinic between Jan 23, 2004, and July 8, 2013, in England. Patients completed a self-report questionnaire before clinical assessment, recording lifetime experience of depression, suicidal ideation, and suicide plans or attempts, along with self-reported measures of autistic traits and empathy. We compared the rate of suicidal ideation in the sample with published rates of suicidal ideation in the general population and other clinical groups. We also assessed associations between depression, autistic traits, empathy, and likelihood of suicidal ideation and suicide plans or attempts.
Findings 374 adults (256 men and 118 women) were diagnosed with Asperger's syndrome in the study period. 243 (66%) of 367 respondents self-reported suicidal ideation, 127 (35%) of 365 respondents self-reported plans or attempts at suicide, and 116 (31%) of 368 respondents self-reported depression. Adults with Asperger's syndrome were significantly more likely to report lifetime experience of suicidal ideation than were individuals from a general UK population sample (odds ratio 9.6 [95% CI 7.6-11.9], p < 0.0001), people with one, two, or more medical illnesses (p < 0. 0001), or people with psychotic illness (p = 0.019). Compared with people diagnosed with Asperger's syndrome without depression, people with Asperger's syndrome and depression were more likely to report suicidal ideation (p < 0.0001) and suicide plans or attempts (p < 0.0001).
Interpretation Our findings lend support to anecdotal reports of increased rates of suicidal ideation in adults with Asperger's syndrome, and depression as an important potential risk factor for suicidality in adults with this condition. Because adults with Asperger's syndrome often have many risk factors for secondary depression (eg, social isolation or exclusion, and unemployment), our findings emphasise the need for appropriate service planning and support to reduce risk in this clinical group. Copyright (C) Cassidy et al.
C1 [Cassidy, Sarah; Allison, Carrie; Baron-Cohen, Simon] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England.
[Bradley, Paul; Robinson, Janine; McHugh, Meghan; Baron-Cohen, Simon] Cambridgeshire & Peterborough NHS Fdn Trust, CLASS Clin, Cambridge, England.
RP Cassidy, S (reprint author), Coventry Univ, Ctr Res Psychol Behav & Achievement, Coventry CV1 5FB, W Midlands, England.
EM sarah.cassidy@coventry.ac.uk
FU Three Guineas Trust; Baily Thomas Foundation; Medical Research Council;
NIHR-CLAHRC-EoE; Cambridgeshire and Peterborough NHS Foundation Trust
(CPFT); Autism Research Trust
FX The Three Guineas Trust, the Baily Thomas Foundation, the Medical
Research Council, NIHR-CLAHRC-EoE, Cambridgeshire and Peterborough NHS
Foundation Trust (CPFT), and the Autism Research Trust.
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NR 33
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 2215-0374
J9 LANCET PSYCHIAT
JI Lancet Psychiatry
PD JUL
PY 2014
VL 1
IS 2
BP 142
EP 147
DI 10.1016/S2215-0366(14)70248-2
PG 6
WC Psychiatry
SC Psychiatry
GA AR6OP
UT WOS:000343703200026
ER
PT J
AU Friston, KJ
Stephan, KE
Montague, R
Dolan, RJ
AF Friston, Karl J.
Stephan, Klaas Enno
Montague, Read
Dolan, Raymond J.
TI Computational psychiatry: the brain as a phantastic organ
SO LANCET PSYCHIATRY
LA English
DT Review
ID AUTISM SPECTRUM DISORDER; DECISION-MAKING; ACTIVE INFERENCE;
FREE-ENERGY; SENSORY PREDICTION; BEHAVIORAL-CONTROL; COGNITIVE SCIENCE;
ACTION SELECTION; SITUATED AGENTS; VISUAL-CORTEX
AB In this Review, we discuss advances in computational neuroscience that relate to psychiatry. We review computational psychiatry in terms of the ambitions of investigators, emerging domains of application, and future work. Our focus is on theoretical formulations of brain function that put subjective beliefs and behaviour within formal (computational) frameworks-frameworks that can be grounded in neurophysiology down to the level of synaptic mechanisms. Understanding the principles that underlie the brain's functional architecture might be essential for an informed phenotyping of psychopathology in terms of its pathophysiological underpinnings. We focus on active (Bayesian) inference and predictive coding. Specifically, we show how basic principles of neuronal computation can be used to explain psychopathology, ranging from impoverished theory of mind in autism to abnormalities of smooth pursuit eye movements in schizophrenia.
C1 [Friston, Karl J.; Stephan, Klaas Enno; Montague, Read; Dolan, Raymond J.] UCL, Inst Neurol, Wellcome Trust Ctr Neuroimaging, London WC1N 3BG, England.
[Stephan, Klaas Enno] Univ Zurich, Inst Biomed Engn, Translat Neuromodeling Unit, Zurich, Switzerland.
[Montague, Read] Virginia Tech Caril Res Inst, Computat Psychiat Unit, Roanoke, VA USA.
RP Friston, KJ (reprint author), UCL, Inst Neurol, Wellcome Trust Ctr Neuroimaging, London WC1N 3BG, England.
EM k.friston@ucl.ac.uk
FU Wellcome Trust; Rene and Susanne Braginsky Foundation
FX KJF, RM, and RJD are funded by the Wellcome Trust. KES is funded by the
Rene and Susanne Braginsky Foundation. The funding sources had no role
in the writing of the manuscript or the decision to submit it for
publication.
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NR 100
TC 6
Z9 6
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 2215-0374
J9 LANCET PSYCHIAT
JI Lancet Psychiatry
PD JUL
PY 2014
VL 1
IS 2
BP 148
EP 158
PG 11
WC Psychiatry
SC Psychiatry
GA AR6OP
UT WOS:000343703200027
ER
PT J
AU Riedmann, EM
AF Riedmann, Eva M.
TI Conclusive proof: immunizations do not cause autism
SO HUMAN VACCINES & IMMUNOTHERAPEUTICS
LA English
DT News Item
CR Taylor LE, 2014, VACCINE, V32, P3623, DOI 10.1016/j.vaccine.2014.04.085
NR 1
TC 0
Z9 0
PU LANDES BIOSCIENCE
PI AUSTIN
PA 1806 RIO GRANDE ST, AUSTIN, TX 78702 USA
SN 2164-5515
EI 2164-554X
J9 HUM VACC IMMUNOTHER
JI Human Vaccines Immunother.
PD JUL
PY 2014
VL 10
IS 7
BP 1777
EP 1777
PG 1
WC Biotechnology & Applied Microbiology; Immunology
SC Biotechnology & Applied Microbiology; Immunology
GA AQ6ED
UT WOS:000342901200009
ER
PT J
AU Reynolds, BM
Gast, DL
Luscre, D
AF Reynolds, Brooke M.
Gast, David L.
Luscre, Deanna
TI Self-Management of Social Initiations by Kindergarten Students With
Disabilities in the General Education Classroom
SO JOURNAL OF POSITIVE BEHAVIOR INTERVENTIONS
LA English
DT Article
DE self-management; social initiations; social interactions
ID AUTISM; CHILDREN; INTERVENTION; ADOLESCENTS; BEHAVIOR; PRESCHOOLERS;
ATTENTION; ASKING; SKILLS
AB The effectiveness of a self-management intervention on social interaction behaviors was evaluated for students with disabilities and social deficits. Four students enrolled in a general education kindergarten classroom were taught to self-monitor social initiations during nonstructured social time via a digital wrist counter. The number of social initiations and concurrent engagement in social interactions were recorded in 10-min observation sessions, within the context of a multiple baseline design across participants. Generalization was assessed in novel social situations through pre- and postintervention sessions. The number of social initiations and mean percentage of intervals participants were interacting increased for all participants. Topics for future research and implications for special education professionals are discussed.
C1 [Reynolds, Brooke M.; Gast, David L.; Luscre, Deanna] Univ Georgia, Athens, GA 30602 USA.
RP Reynolds, BM (reprint author), Univ Georgia, 516 Aderhold Hall, Athens, GA 30602 USA.
EM brookemreynolds@gmail.com
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NR 34
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1098-3007
EI 1538-4772
J9 J POSIT BEHAV INTERV
JI J. Posit. Behav. Interv.
PD JUL
PY 2014
VL 16
IS 3
BP 137
EP 148
DI 10.1177/1098300713483176
PG 12
WC Psychology, Clinical; Education, Special
SC Psychology; Education & Educational Research
GA AQ5DB
UT WOS:000342824100003
ER
PT J
AU Axelrod, MI
Bellini, S
Markoff, K
AF Axelrod, Michael I.
Bellini, Scott
Markoff, Kimberly
TI Video Self-Modeling: A Promising Strategy for Noncompliant Children
SO BEHAVIOR MODIFICATION
LA English
DT Article
DE behavior; noncompliant children; intervention; video self-modeling
ID PEER INTERACTIONS; CLASSROOM-BEHAVIOR; FEEDBACK; STUDENTS;
INTERVENTIONS; DISORDERS; AUTISM
AB The current study investigated the effects of a Video Self-Modeling (VSM) intervention on the compliance and aggressive behavior of three children placed in a psychiatric hospital. Each participant viewed brief video clips of himself following simple adult instructions just prior to the school's morning session and the unit's afternoon free period. A multiple baseline design across settings was used to evaluate the effects of the VSM intervention on compliance with staff instructions and aggressive behavior on the hospital unit and in the hospital-based classroom. All three participants exhibited higher levels of compliance and fewer aggressive episodes during the intervention condition, and the effects were generally maintained when the intervention was withdrawn. Hospital staff reported at the conclusion of the study that the VSM intervention was easy to implement and beneficial for all participants. Taken altogether, the results suggest VSM is a promising, socially acceptable, and proactive intervention approach for improving the behavior of noncompliant children.
C1 [Axelrod, Michael I.] Univ Wisconsin, Ctr Human Dev, Eau Claire, WI 54702 USA.
[Axelrod, Michael I.] Univ Wisconsin, Dept Psychol, Eau Claire, WI 54702 USA.
[Bellini, Scott] Indiana Univ, Sch Psychol, Bloomington, IN 47405 USA.
[Bellini, Scott] Indiana Univ, Social Skill Res Clin, Bloomington, IN 47405 USA.
[Markoff, Kimberly] Indiana Univ, Sch Psychol Program, Bloomington, IN 47405 USA.
RP Axelrod, MI (reprint author), Univ Wisconsin, Dept Psychol, HSS 160A, Eau Claire, WI 54702 USA.
EM axelromi@uwec.edu
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National Autism Center, 2009, NAT STAND REP
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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 0145-4455
EI 1552-4167
J9 BEHAV MODIF
JI Behav. Modificat.
PD JUL
PY 2014
VL 38
IS 4
BP 567
EP 586
DI 10.1177/0145445514521232
PG 20
WC Psychology, Clinical
SC Psychology
GA AQ3HB
UT WOS:000342681000006
ER
PT J
AU Kearney, JA
AF Kearney, Jennifer A.
TI Epi4K Phase I: Gene Discovery in Epileptic Encephalopathies by Exome
Sequencing
SO EPILEPSY CURRENTS
LA English
DT Editorial Material
ID DE-NOVO MUTATIONS; INTELLECTUAL DISABILITY; AUTISM
CR Abou-Khalil B, 2013, CLIN TRIALS, V10, P568
Berkovic S, 2012, EPILEPSIA, V53, P1457, DOI 10.1111/j.1528-1167.2012.03511.x
de Ligt J, 2012, NEW ENGL J MED, V367, P1921, DOI 10.1056/NEJMoa1206524
Kong A, 2012, NATURE, V488, P471, DOI 10.1038/nature11396
Macdonald RL, 2012, JASPERS BASIC MECH E, pXXX
O'Roak BJ, 2012, NATURE, V485, P246, DOI 10.1038/nature10989
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Sanders SJ, 2012, NATURE, V485, P237, DOI 10.1038/nature10945
Timal S, 2012, HUM MOL GENET, V21, P4151, DOI 10.1093/hmg/dds123
NR 9
TC 0
Z9 0
PU AMER EPILEPSY SOCIETY
PI WEST HARTFORD
PA 342 NORTH MAIN STREET, WEST HARTFORD, CT 06117-2507 USA
SN 1535-7597
EI 1535-7511
J9 EPILEPSY CURR
JI Epilepsy Curr.
PD JUL-AUG
PY 2014
VL 14
IS 4
BP 208
EP 210
PG 3
WC Clinical Neurology
SC Neurosciences & Neurology
GA AQ0KQ
UT WOS:000342472600012
PM 25170321
ER
PT J
AU Bronson, SL
Bale, TL
AF Bronson, Stefanie L.
Bale, Tracy L.
TI Prenatal Stress-Induced Increases in Placental Inflammation and
Offspring Hyperactivity Are Male-Specific and Ameliorated by Maternal
Antiinflammatory Treatment
SO ENDOCRINOLOGY
LA English
DT Article
ID PITUITARY-ADRENAL AXIS; IMMUNE ACTIVATION; BRAIN-DEVELOPMENT;
NUCLEUS-ACCUMBENS; DOPAMINERGIC SYSTEM; PREFRONTAL CORTEX;
SEXUAL-DIMORPHISM; RECEPTOR-BINDING; GENE-EXPRESSION; FETAL-BRAIN
AB Adverse experiences during gestation such as maternal stress and infection are known risk factors for neurodevelopmental disorders, including schizophrenia, autism, and attention deficit/hyperactivity disorder. The mechanisms by which these distinct exposures may confer similar psychiatric vulnerability remain unclear, although likely involve pathways common to both stress and immune responses at the maternal-fetal interface. We hypothesized that maternal stress-induced activation of immune pathways within the placenta, the sex-specific maternal-fetal intermediary, may contribute to prenatal stress programming effects on the offspring. Therefore, we assessed for markers indicative of stress-induced placental inflammation, and examined the ability of maternal nonsteroidal antiinflammatory drug (NSAID) treatment to ameliorate placental effects and thereby rescue the stress-dysregulation phenotype observed in our established mouse model of early prenatal stress (EPS). As expected, placental gene expression analyses revealed increased levels of immune response genes, including the proinflammatory cytokines IL-6 and IL-1 beta, specifically in male placentas. NSAID treatment partially ameliorated these EPS effects. Similarly, in adult offspring, males displayed stress-induced locomotor hyperactivity, a hallmark of dopaminergic dysregulation, which was ameliorated by maternal NSAID treatment. Fitting with these outcomes and supportive of dopamine pathway involvement, expression of dopamine D1 and D2 receptors was altered by EPS in males. These studies support an important interaction between maternal stress and a proinflammatory state in the long-term programming effects of maternal stress.
C1 [Bronson, Stefanie L.; Bale, Tracy L.] Univ Penn, Sch Vet Med, Dept Anim Biol, Philadelphia, PA 19104 USA.
RP Bale, TL (reprint author), Univ Penn, Sch Vet Med, Dept Anim Biol, Philadelphia, PA 19104 USA.
EM tbale@vet.upenn.edu
FU National Institutes of Health [MH087597, MH091258]
FX This work was supported by National Institutes of Health Grants MH087597
and MH091258.
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NR 97
TC 6
Z9 6
PU ENDOCRINE SOC
PI WASHINGTON
PA 2055 L ST NW, SUITE 600, WASHINGTON, DC 20036 USA
SN 0013-7227
EI 1945-7170
J9 ENDOCRINOLOGY
JI Endocrinology
PD JUL
PY 2014
VL 155
IS 7
BP 2635
EP 2646
DI 10.1210/en.2014-1040
PG 12
WC Endocrinology & Metabolism
SC Endocrinology & Metabolism
GA AP8QI
UT WOS:000342343400030
PM 24797632
ER
PT J
AU Chi, DL
AF Chi, Donald L.
TI Caregivers Who Refuse Preventive Care for Their Children: The
Relationship Between Immunization and Topical Fluoride Refusal
SO AMERICAN JOURNAL OF PUBLIC HEALTH
LA English
DT Article
ID COMMUNITY WATER FLUORIDATION; PERSONAL-BELIEF EXEMPTIONS; AUTISM
SPECTRUM DISORDERS; HEALTH SUPERVISION VISITS; LOW-INCOME CHILDREN;
CHILDHOOD IMMUNIZATION; ELEMENTARY-SCHOOL; DECISION-MAKING;
UNITED-STATES; ORAL-HEALTH
AB Objectives. The aim of this study was to examine caregivers' refusal of preventive medical and dental care for children.
Methods. Prevalence rates of topical fluoride refusal based on dental records and caregiver self-reports were estimated for children treated in 3 dental clinics in Washington State. A 60-item survey was administered to 1024 caregivers to evaluate the association between immunization and topical fluoride refusal. Modified Poisson regression models were used to estimate prevalence rate ratios (PRRs).
Results. The prevalence of topical fluoride refusal was 4.9% according to dental records and 12.7% according to caregiver self-reports. The rate of immunization refusal was 27.4%. In the regression models, immunization refusalwas significantly associated with topical fluoride refusal (dental record PRR = 1.61; 95% confidence interval [CI] = 1.32, 1.96; P < .001; caregiver self-report PRR = 6.20; 95% CI = 3.21, 11.98; P < .001). Caregivers younger than 35 years were significantly more likely than older caregivers to refuse both immunizations and topical fluoride (P < .05).
Conclusions. Caregiver refusal of immunizations is associated with topical fluoride refusal. Future research should identify the behavioral and social factors related to caregiver refusal of preventive care with the goal of developing multidisciplinary strategies to help caregivers make optimal preventive care decisions for children.
C1 Univ Washington, Sch Dent, Dept Oral Hlth Sci, Seattle, WA 98195 USA.
RP Chi, DL (reprint author), Univ Washington, Sch Dent, Dept Oral Hlth Sci, Box 357475, Seattle, WA 98195 USA.
EM dchi@uw.edu
FU National Institute of Dental and Craniofacial Research of the National
Institutes of Health [K08DE020856, L60MD003921, R03DE021439,
U54DE019346]; University of Washington Institute for Translational
Health Sciences [UL1RR025014]; William T. Grant Foundation Scholars
Program
FX This study was supported by the National Institute of Dental and
Craniofacial Research of the National Institutes of Health (grants
K08DE020856, L60MD003921, R03DE021439, and U54DE019346), the University
of Washington Institute for Translational Health Sciences (grant
UL1RR025014), and the William T. Grant Foundation Scholars Program.
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NR 99
TC 1
Z9 1
PU AMER PUBLIC HEALTH ASSOC INC
PI WASHINGTON
PA 800 I STREET, NW, WASHINGTON, DC 20001-3710 USA
SN 0090-0036
EI 1541-0048
J9 AM J PUBLIC HEALTH
JI Am. J. Public Health
PD JUL
PY 2014
VL 104
IS 7
BP 1327
EP 1333
DI 10.2105/AJPH.2014.301927
PG 7
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AP1EM
UT WOS:000341809500051
PM 24832428
ER
PT J
AU Williams, KE
Hendy, HM
AF Williams, Keith E.
Hendy, Helen M.
TI Variables Associated With the Use of Complete Oral Calorie Supplements
in Children With Feeding Problems
SO JOURNAL OF NUTRITION EDUCATION AND BEHAVIOR
LA English
DT Article
DE supplements; child; developmental disability; feeding problems;
underweight; overweight; parent; meal
ID MEALTIME ACTION SCALE; DISABILITIES; BEHAVIOR
AB Objective: To examine child and parent variables associated with complete oral calorie supplement use among children with feeding problems.
Design: Correlational examination of data from patient intake surveys.
Setting: Hospital-based feeding program.
Participants: Participants included 281 parents of children referred to a hospital-based feeding clinic, including 114 who received supplements (70.2% boys; mean age, 60.1 months) and 167 who did not receive (79.6% boys; mean age, 67.5 months).
Variables Measured: Children's age, gender, weight status, diagnostic category (no special needs, autism, or other special needs), supplement intake, oral motor problems, child mealtime behavior (using the Child Eating Behavior Questionnaire), parent feeding practices (using the Parent Mealtime Action Scale), and diet variety for child and parent.
Analysis: Chi-square analyses compared children who did and did not receive supplements for their percentage of gender, diagnostic, and weight status categories; t tests or Mann-Whitney U tests compared children who did and did not receive supplements, for age, oral motor problems, children's mealtime behavior, parent feeding practices, and diet variety.
Results: Compared with children who did not receive nutritional supplements, those who did were younger (P < .01) and more underweight (P < .001), and showed less Food Responsiveness (P < .001), less Food Enjoyment (P < .001), more Food Satiety (P < .001, and more Slow Eating (P < .001), and their parents were more likely to use Insistence on Eating (P < .001).
Conclusions: Whereas supplement use was related to underweight, 78.2% of children receiving them were normal weight or overweight, which suggests that supplements are being used to address mealtime selective eating. The use of supplements should be considered carefully because they do not appear to increase diet variety and may increase the chance of overweight over time.
C1 [Williams, Keith E.] Penn State Hershey Med Ctr, Feeding Program, Hershey, PA 17033 USA.
[Hendy, Helen M.] Penn State Univ, Psychol Program, Schuylkill Haven, PA USA.
RP Williams, KE (reprint author), Penn State Hershey Med Ctr, Feeding Program, Hershey, PA 17033 USA.
EM kwilliams2@hmc.psu.edu
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NR 19
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1499-4046
EI 1878-2620
J9 J NUTR EDUC BEHAV
JI J. Nutr. Educ. Behav.
PD JUL-AUG
PY 2014
VL 46
IS 4
BP 236
EP 240
DI 10.1016/j.jneb.2014.01.003
PG 5
WC Education, Scientific Disciplines; Nutrition & Dietetics
SC Education & Educational Research; Nutrition & Dietetics
GA AP5RB
UT WOS:000342135300004
PM 24629907
ER
PT J
AU Kanemura, H
Sano, F
Ohyama, T
Sugita, K
Aihara, M
AF Kanemura, Hideaki
Sano, Fumikazu
Ohyama, Tetsuo
Sugita, Kanji
Aihara, Masao
TI Effect of levetiracetam on behavioral problems in pervasive
developmental disorder children with epilepsy
SO EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
LA English
DT Article
DE Levetiracetam; Pervasive developmental disorder (PDD); Refractory
epilepsy; EEG paroxysmal abnormalities; Behavior; Frontal
ID INTERICTAL EPILEPTIFORM DISCHARGES; AUTISM SPECTRUM DISORDERS; CHILDHOOD
EPILEPSY; REFRACTORY EPILEPSY; EEG ABNORMALITIES; FOLLOW-UP; EFFICACY;
SPIKES; FREQUENCY; SEIZURES
AB Aims: We investigated the relationship between behavioral problems, location of electroencephalogram (EEG) paroxysmal abnormalities (PA), and treatment with levetiracetam in children with pervasive developmental disorder (PDD) and epilepsy.
Methods: Twelve PDD children with epilepsy were included in the study. All patients had EEG PA (frontal spikes, 8; rolandic, 3; generalized, 1). After a 3-month baseline period, patients were given levetiracetam with an initial dose of 10 mg/kg/day for the first week, followed by increments of 5 mg/kg/day every week. Levetiracetam dosage was then adjusted up to a maximum of 60 mg/kg/day. EEG recordings were performed every 3 months, focusing on PA frequency. We counted the frequency of seizures and EEG PA, and scored instances of panic/aggressive behaviors.
Results: Eight (66.7%) of the 12 patients were considered to be responders to clinical seizures and EEG findings (>= 50% reduction in both seizures and PA frequency). Six (75%) of these eight patients were considered to be responders for behavioral problems (>= 50% reduction in panic/aggressive behavior). These six patients had frontal EEG paroxysms, whereas the remaining two patients without behavioral responses had rolandic EEG paroxysms. Patients with frontal PA showed a significantly higher correlation between EEG/clinical seizures and behavioral improvements (p < 0.05).
Conclusion: The present data indicated the usefulness of LEV in reducing behavioral problems related to the reduction of seizures and frontal spikes in PDD for some but not all of the patients. Thus, levetiracetam represents an important addition to treatment for PDD children with epilepsy presenting with frontal EEG paroxysms. (C) 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
C1 [Kanemura, Hideaki; Sano, Fumikazu; Ohyama, Tetsuo; Sugita, Kanji] Univ Yamanashi, Fac Med, Dept Paediat, Kofu, Yamanashi 4093898, Japan.
[Aihara, Masao] Univ Yamanashi, Interdisciplinary Grad Sch Med & Engn, Kofu, Yamanashi 4093898, Japan.
RP Kanemura, H (reprint author), Univ Yamanashi, Fac Med, Dept Paediat, Chuo Ku, Kofu, Yamanashi 4093898, Japan.
EM ykimu@yamanashi.ac.jp
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NR 31
TC 0
Z9 0
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 JUL
PY 2014
VL 18
IS 4
BP 482
EP 488
DI 10.1016/j.ejpn.2014.03.007
PG 7
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AL0OA
UT WOS:000338825000005
PM 24703761
ER
PT J
AU Banji, D
Banji, OJF
Ragini, M
Annamalai, AR
AF Banji, David
Banji, Otilia J. F.
Ragini, M.
Annamalai, A. R.
TI Carbosulfan exposure during embryonic period can cause developmental
disability in rats
SO ENVIRONMENTAL TOXICOLOGY AND PHARMACOLOGY
LA English
DT Article
DE Carbosulfan; Embryonic period; Behavior; Acetylcholinesterase; Oxidative
stress
ID ACETYLCHOLINESTERASE ACTIVITY; PESTICIDES; ECOTOXICITY; GLUTATHIONE;
CEREBELLUM; CARBOFURAN; REDUCTASE; SYSTEM; AUTISM; BRAIN
AB Carbosulfan, a wide spectrum pesticide is used to improve crop productivity. During their application, they disperse in the environment exerting harmful consequences on human health. We speculated that exposure to carbosulfan, a carbamate insecticide during early development can affect neurogenesis and synaptic development. In order to test this, pregnant dams were exposed to carbosulfan in four doses (0.5, 1, 2, and 4 mg/kg) during the embryonic period (ED 1-15). Offspring were evaluated for neurobehavioral changes, oxidative markers, acetylcholinesterase levels, and formation of carbonylated proteins. Histopathology of the cerebellum was carried out. Carbosulfan exposure produced alteration in sensorimotor tasks, motor function and elevated anxiety in pups. Carbosulfan affected growth rate of pups in a dose dependent manner. A significant increase in melondialdehyde, a lipid peroxide marker, carbonylated proteins and a dose dependent decrease in the levels of glutathione and glutathione peroxidase were observed. Carbosulfan produced a decline in acetylcholinesterase levels which might contribute to poor exploratory behavior. Distinct changes in the Purkinje cells were observed as the dose of carbosulfan increased. Largely, alteration in behavior can be due to oxidative damage, thereby, affecting neurogenesis, synaptogenesis and myelination. Therefore the propensity of carbosulfan to induce developmental disability is high and should be cautiously avoided during embryonic development. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Banji, David; Banji, Otilia J. F.; Ragini, M.] Nalanda Coll Pharm, Dept Pharmacol & Toxicol, Nalgonda 508001, Andhra Pradesh, India.
[Annamalai, A. R.] Annamalai Univ, Rajah Muthiah Med Coll, Dept Pharmacol, Chidambaram, Tamil Nadu, India.
RP Banji, D (reprint author), Nalanda Coll Pharm, Dept Pharmacol & Toxicol, Hyderabad Rd, Nalgonda 508001, Andhra Pradesh, India.
EM davidbanji@gmail.com
FU Nalanda Educational Society, Nalgonda, Andhra Pradesh, India
[NES/55/RG/2012]
FX The authors express their gratitude to Nalanda Educational Society,
grant number is NES/55/RG/2012 dated 15-11-2012, Nalgonda 508001, Andhra
Pradesh, India for providing financial support and facilities for
carrying out this work.
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NR 52
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 1382-6689
EI 1872-7077
J9 ENVIRON TOXICOL PHAR
JI Environ. Toxicol. Pharmacol.
PD JUL
PY 2014
VL 38
IS 1
BP 230
EP 238
DI 10.1016/j.etap.2014.05.009
PG 9
WC Environmental Sciences; Pharmacology & Pharmacy; Toxicology
SC Environmental Sciences & Ecology; Pharmacology & Pharmacy; Toxicology
GA AO6NN
UT WOS:000341468900025
PM 24973665
ER
PT J
AU Daunhauer, LA
Fidler, DJ
Hahn, L
Will, E
Lee, NR
Hepburn, S
AF Daunhauer, Lisa A.
Fidler, Deborah J.
Hahn, Laura
Will, Elizabeth
Lee, Nancy Raitano
Hepburn, Susan
TI Profiles of Everyday Executive Functioning in Young Children With Down
Syndrome
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE executive function; cognition; Down syndrome; trisomy 21
ID BEHAVIOR RATING INVENTORY; CONFIRMATORY FACTOR-ANALYSIS; PREFRONTAL
CORTEX; PRESCHOOL-CHILDREN; EFFORTFUL CONTROL; UNITED-STATES; FRAGILE-X;
MEMORY; DISORDERS; AUTISM
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[Hahn, Laura] Univ Kansas, Lawrence, KS 66045 USA.
[Lee, Nancy Raitano] NIMH, Bethesda, MD USA.
[Hepburn, Susan] Univ Colorado, Sch Med, Boulder, CO 80309 USA.
RP Daunhauer, LA (reprint author), Colorado State Univ, Room 447,Behav Sci Bldg, Ft Collins, CO 80523 USA.
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NR 67
TC 2
Z9 2
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 JUL
PY 2014
VL 119
IS 4
BP 303
EP 318
DI 10.1352/1944-7558-119.4.303
PG 16
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO3XP
UT WOS:000341270900002
PM 25007296
ER
PT J
AU Turkstra, LS
Abbeduto, L
Meulenbroek, P
AF Turkstra, Lyn S.
Abbeduto, Leonard
Meulenbroek, Peter
TI Social Cognition in Adolescent Girls With Fragile X Syndrome
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE social cognition; fragile X syndrome; executive function; social
outcome; adolescent
ID TRAUMATIC BRAIN-INJURY; HIGH-FUNCTIONING AUTISM; THEORY-OF-MIND;
EXECUTIVE FUNCTION; ASPERGER-SYNDROME; FRONTOTEMPORAL DEMENTIA; LANGUAGE
IMPAIRMENT; TURNER-SYNDROME; SELF-CONCEPT; EYES TEST
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C1 [Turkstra, Lyn S.] Univ Wisconsin, Dept Commun Sci & Disorders, Madison, WI 53706 USA.
[Abbeduto, Leonard] Univ Calif Davis, MIND Inst, Davis, CA 95616 USA.
[Abbeduto, Leonard] Univ Calif Davis, Dept Psychiat & Behav Sci, Davis, CA 95616 USA.
[Meulenbroek, Peter] Univ Wisconsin, Madison, WI 53706 USA.
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NR 99
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 JUL
PY 2014
VL 119
IS 4
BP 319
EP 339
DI 10.1352/1944-7558-119.4.319
PG 21
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO3XP
UT WOS:000341270900003
PM 25007297
ER
PT J
AU Schroeder, SR
Marquis, JG
Reese, RM
Richman, DM
Mayo-Ortega, L
Oyama-Ganiko, R
LeBlanc, J
Brady, N
Butler, MG
Johnson, T
Lawrence, L
AF Schroeder, Stephen R.
Marquis, Janet G.
Reese, R. Matthew
Richman, David M.
Mayo-Ortega, Liliana
Oyama-Ganiko, Rosa
LeBlanc, Judith
Brady, Nancy
Butler, Merlin G.
Johnson, Tiffany
Lawrence, Linda
TI Risk Factors for Self-Injury, Aggression, and Stereotyped Behavior Among
Young Children At Risk for Intellectual and Developmental Disabilities
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE aggression; self-injurious behavior; stereotyped behavior; infants;
toddlers; intellectual and developmental disabilities
ID AUTISM SPECTRUM DISORDER; LONG-TERM TREATMENT; CHALLENGING BEHAVIORS;
PROBLEMS-INVENTORY; INFANT SCREEN; REPETITIVE-BEHAVIOR;
MENTAL-RETARDATION; ANIMAL-MODELS; TODDLERS; INDIVIDUALS
AB Before the 1990s, research on the early identification and prevention of severe behavior disorders (SBDs), such as aggression, self-injury, and stereotyped behavior, among young children with intellectual and developmental disabilities (IDD), was mostly done with children 3 years or older. More recent work suggests that signs of SBDs may occur as early as 6 months in some infants. The present study combined a cross-sectional and longitudinal approach to examine SBDs in 180 young children aged 4-48 months recruited through mass screening, then receiving an interdisciplinary evaluation and sixmonth follow-ups for one year. Twelve potential risk factors related to SBDs were examined. Eight of these risk factors, including age, gender, diagnosis, intellectual and communication levels, visual impairment, parent education, family income, were differentially related to scores for Aggression, SIB, and Stereotyped Behavior subscales on the Behavior Problems Inventory (BPI-01) at initial interdisciplinary evaluation. BPI-01 scores decreased over the year for 57% of the children and increased for 43%. The amount of decrease on each BPI-01 subscale varied with age, gender, and diagnosis.
C1 [Schroeder, Stephen R.; LeBlanc, Judith] Univ Kansas, Life Span Inst, Lawrence, KS 66045 USA.
[Marquis, Janet G.; Reese, R. Matthew; Brady, Nancy] Univ Kansas, Lawrence, KS 66045 USA.
[Richman, David M.] Texas Tech Univ, Lubbock, TX 79409 USA.
[Mayo-Ortega, Liliana; Oyama-Ganiko, Rosa] Ctr Ann Sullivan Peru, Lima, Peru.
[Butler, Merlin G.; Johnson, Tiffany; Lawrence, Linda] Univ Kansas, Med Ctr, Lawrence, KS 66045 USA.
RP Schroeder, SR (reprint author), Univ Kansas, Life Span Inst, 1000 Sunnyside Ave, Lawrence, KS 66045 USA.
EM srs@ku.edu
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NR 73
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 JUL
PY 2014
VL 119
IS 4
BP 351
EP 370
DI 10.1352/1944-7558-119.4.351
PG 20
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO3XP
UT WOS:000341270900005
PM 25007299
ER
PT J
AU Conill, E
Stilgenbauer, JL
Mouren, MC
Gousse, V
AF Conill, Elodie
Stilgenbauer, Jean-Louis
Mouren, Marie-Christine
Gousse, Veronique
TI Role of cognitive flexibility in the recognition of emotional
expressions in individuals with Autism Spectrum Disorders
SO ANNALES MEDICO-PSYCHOLOGIQUES
LA French
DT Article
DE Autism; Cognitive function; Emotion; Expression of emotion; Flexibility
ID CHILDREN; MIND; FACES
AB The present research tested whether young children with Autism Spectrum Disorders (ASDs) shows impaired recognition of basic-emotion expressions (anger, fear, happiness, sadness, disgust) and the same emotions embedded in a social background (i.e. simple versus complex facial emotion recognition), compared with typically developing (TD) children. Moreover, we investigated whether cognitive flexibility could be linked with these faces processing skills. Our results showed that performance in ASD children was similar to the group of TD children for simple emotion recognition whereas TD children outperformed ASDs children in the complex task. In the second part, our study tends to confirm a link between cognitive flexibility and faces processing skills in children with ASD, especially when different contextual cues are present to extract facial emotion. We confirm previous findings demonstrating that individuals with ASDs use an effortful "systematizing" process to recognize emotion expressions, whereas TD individuals use a more holistic process. These results are discussed within the context of current neuropsychological studies on "weak central coherence", hyper-systemizing theory, and lack of cognitive flexibility in ASD. (C) 2014 Elsevier Masson SAS. All rights reserved.
C1 [Conill, Elodie] Univ Paris 08, Inst Enseignement Distance, F-93526 St Denis, France.
[Gousse, Veronique] Univ Nimes, LPS EA 849, F-13621 Aix En Provence, France.
[Stilgenbauer, Jean-Louis] Univ Paris 08, Lab Chart, EA 4004, F-75014 Paris, France.
[Stilgenbauer, Jean-Louis] EPHE, F-75014 Paris, France.
[Mouren, Marie-Christine] Hop Robert Debre, Serv Psychopathol Enfant & Adolescent, F-75019 Paris, France.
RP Conill, E (reprint author), Univ Paris 08, Inst Enseignement Distance, F-93526 St Denis, France.
EM elodie.conill@gmail.com
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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 JUL
PY 2014
VL 172
IS 5
BP 392
EP 395
DI 10.1016/j.amp.2014.05.005
PG 4
WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology,
Multidisciplinary
SC Pharmacology & Pharmacy; Psychiatry; Psychology
GA AO2DF
UT WOS:000341125000014
ER
PT J
AU McCullough, E
Stedmon, J
Dallos, R
AF McCullough, Elaine
Stedmon, Jacqui
Dallos, Rudi
TI Narrative responses as an aid to understanding the presentation of
maltreated children who meet criteria for autistic spectrum disorder and
reactive attachment disorder: A case series study
SO CLINICAL CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Autistic spectrum disorder; qualitative research; mentalisation; Story
Stems; attachment; theory of mind
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; FALSE-BELIEF; DIFFICULTIES
QUESTIONNAIRE; MENTAL-HEALTH; NORMAL ADULTS; RIGHT BRAIN; MIND; EMOTION;
LANGUAGE
AB This paper offers research case studies of four severely maltreated children who had received a diagnosis of autistic spectrum disorder. A range of measures were employed to explore the children's psychological and emotional functioning, including Theory of Mind assessment (Sally-Anne Test), attachment measures (Story Stems Assessment Profile and Relationship Problems Questionnaire), along with measures to assess general psychological and emotional well-being. Contrary to the diagnosis, the children did not reveal a theory of mind deficit. However, they did indicate a profile of difficulties in mentalisation on the Story Stems. The findings are discussed in terms of the extent to which mentalisation and theory of mind are influenced by situational factors, especially the anxiety evoked by the Story Stem attachment scenarios. Clinical implications regarding mentalisation as a state vs. trait phenomenon are discussed.
C1 [McCullough, Elaine; Stedmon, Jacqui; Dallos, Rudi] Univ Plymouth, Plymouth PL4 8AA, Devon, England.
RP McCullough, E (reprint author), Family Futures, 3 & 4 Floral Pl,7-9 Northampton Grove, London N1 2PL, England.
EM Elaine_McCullough@hotmail.co.uk
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NR 53
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1359-1045
EI 1461-7021
J9 CLIN CHILD PSYCHOL P
JI Clin. Child Psychol. Psychiatry
PD JUL
PY 2014
VL 19
IS 3
BP 392
EP 411
DI 10.1177/1359104513503353
PG 20
WC Psychology, Clinical; Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AO0BS
UT WOS:000340974700006
PM 24121230
ER
PT J
AU Gomez, R
Corr, PJ
AF Gomez, Rapson
Corr, Philip J.
TI ADHD and personality: A meta-analytic review
SO CLINICAL PSYCHOLOGY REVIEW
LA English
DT Article
DE Meta-analysis; ADHD; Inattention; Hyperactivity; Personality;
Five-Factor Model
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY
DISORDER; AUTISM SPECTRUM DISORDERS; LATENT STRUCTURE; KOREAN CHILDREN;
5-FACTOR MODEL; PATHWAY MODEL; EFFECT SIZE; TEMPERAMENT; CHARACTER
AB We report a meta-analysis of up to 40 data sets that examined the personality dimensions in the Five-Factor Model (FFM) and the integrated Five-Factor Model (IFFM) in relation to ADHD symptom domains of inattention (IA) and hyperactivity/impulsivity (HI). The IFFM incorporated the dimensions of other personality models (in particular, those of Eysenck, Tellegen, and Cloninger, as well as the FFM). Major findings were: (1) IA and HI were both associated with low conscientious inhibition/conscientiousness, and low agreeable inhibition/agreeableness, and with high negative emotionality/neurotidsm; (2) conscientious inhibition and conscientiousness were more strongly related to IA than HI; (3) agreeable inhibition and agreeableness were more strongly related to HI than IA; and (4) the association of conscientious inhibition and conscientiousness with HI was moderated by age group and source from where participants were recruited (associations were stronger in children than adults, and clinical samples than community samples). These findings are discussed in relation to single and multiple pathway theories, underlying factors and processes for the personality-ADHD link, and clinical implications. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Gomez, Rapson] Federat Univ, Ballarat, Vic 3353, Australia.
[Corr, Philip J.] City Univ London, London, England.
RP Gomez, R (reprint author), Federat Univ, Sch Hlth Sci, POB 663, Ballarat, Vic 3353, Australia.
EM rapson.gomez@federation.edu.au
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NR 94
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0272-7358
EI 1873-7811
J9 CLIN PSYCHOL REV
JI Clin. Psychol. Rev.
PD JUL
PY 2014
VL 34
IS 5
BP 376
EP 388
DI 10.1016/j.cpr.2014.05.002
PG 13
WC Psychology, Clinical
SC Psychology
GA AO1JD
UT WOS:000341067500002
PM 24929793
ER
PT J
AU Batu, ES
Aksoy, FB
Oncul, N
AF Batu, E. Sema
Aksoy, Funda Bozkurt
Oncul, Nuray
TI Effectiveness of Mother Delivered Simultaneous Prompting Taught by
Visual Support on Teaching Chained Skills to Their Children with Autism
SO EGITIM VE BILIM-EDUCATION AND SCIENCE
LA Turkish
DT Article
ID CONSTANT-TIME DELAY; MENTAL-RETARDATION; DEVELOPMENTAL-DISABILITIES;
INSTRUCTIVE FEEDBACK; YOUNG-ADULTS; INDIVIDUALS; TEACHERS; ACQUISITION;
ADOLESCENTS; CAREGIVERS
C1 [Batu, E. Sema] Anadolu Univ, Engelliler Arastirma Enstitusu, Tepebasi, Turkey.
[Aksoy, Funda Bozkurt; Oncul, Nuray] Anadolu Univ, Egitim Fak, Ozel Egitim Bolumu, Tepebasi, Turkey.
RP Batu, ES (reprint author), Anadolu Univ, Engelliler Arastirma Enstitusu, Tepebasi, Turkey.
EM esbatu@anadolu.edu.tr; fbozkurt@anadolu.edu.tr; noncul@anadolu.edu.tr
CR Akmanoglu N, 2004, EDUC TRAIN DEV DISAB, V39, P326
Akmanoglu-Uludag N, 2005, EDUC TRAIN DEV DISAB, V40, P401
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Dere-Ciftci H., 2010, SOC BEHAV PERSONAL, V38, P479
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NR 30
TC 0
Z9 0
PU TURKISH EDUCATION ASSOC
PI KOCATEPE
PA KIZILIRMAK CADDESI NO 8, KOCATEPE, ANKARA 00000, TURKEY
SN 1300-1337
J9 EGIT BILIM
JI Egit. Bilim
PD JUL
PY 2014
VL 39
IS 174
BP 91
EP 104
PG 14
WC Education & Educational Research
SC Education & Educational Research
GA AO1GA
UT WOS:000341059400008
ER
PT J
AU Kothare, SV
Singh, K
Hochman, T
Chalifoux, JR
Staley, BA
Weiner, HL
Menzer, K
Devinsky, O
AF Kothare, Sanjeev V.
Singh, Kanwaljit
Hochman, Tsivia
Chalifoux, Jason R.
Staley, Brigid A.
Weiner, Howard L.
Menzer, Kimberly
Devinsky, Orrin
TI Genotype/phenotype in tuberous sclerosis complex: Associations with
clinical and radiologic manifestations
SO EPILEPSIA
LA English
DT Article
DE Tuberous sclerosis complex; Epilepsy; Autism spectrum disorders
ID AUTISM SPECTRUM DISORDERS; GIANT-CELL TUMORS; CHILDREN; EPILEPSY
AB Objectives: Patients with tuberous sclerosis complex (TSC) frequently have autism spectrum disorders and neuropsychiatric disorders. Subependymal giant cell astrocytomas (SEGAs) have been reported to occur in 5-20% of patients with TSC; however, the relationship between SEGAs and neuropsychiatric disorders in TSC remains unknown. We utilized a large multicenter database to study associations between SEGAs and neuropsychiatric disorders in patients with TSC.
Methods: Associations between the presence of SEGAs and neuropsychiatric disorders were examined in a retrospective review of 916 patients enrolled in the TSC Natural History Database Project (Tuberous Sclerosis Alliance).
Results: Among the 916 TSC patients, 226 had SEGAs (25%) and 155 had autism spectrum disorder (ASD) (17%). Compared to patients without SEGAs, patients with SEGAs were 1.83 (95% confidence interval [CI] 1.26-2.66) times more likely to have ASD. No significant relationship was found between SEGAs and intellectual disability, attention-deficit/hyperactive disorder, or major depressive disorder.
Significance: The clinical presentation of TSC is highly variable and not well understood. These data show that SEGAs are associated with ASD in patients with TSC, suggesting that the pathologic changes leading to SEGA formation may also predispose patients to ASD.
C1 [Kothare, Sanjeev V.; Chalifoux, Jason R.; Weiner, Howard L.; Menzer, Kimberly; Devinsky, Orrin] NYU, Dept Neurol, Langone Med Ctr, Comprehens Epilepsy Ctr, New York, NY 10016 USA.
[Singh, Kanwaljit] Harvard Univ, Childrens Hosp, Sch Med, Div Clin Neurophysiol,Dept Neurol, Boston, MA 02115 USA.
[Singh, Kanwaljit] Harvard Univ, Sch Med, Massachusetts Gen Hosp Children, Lurie Ctr, Boston, MA USA.
[Hochman, Tsivia] NYU, Langone Med Ctr, Div Biostat, New York, NY USA.
[Staley, Brigid A.; Weiner, Howard L.] NYU, Dept Neurosurg, Langone Med Ctr, New York, NY 10016 USA.
RP Kothare, SV (reprint author), NYU, Dept Neurol, Langone Med Ctr, Comprehens Epilepsy Ctr, New York, NY 10016 USA.
EM sanjeev.kothare@nyumc.org
CR Adriaensen MEAPM, 2009, EUR J NEUROL, V16, P691, DOI 10.1111/j.1468-1331.2009.02567.x
Asano E, 2001, NEUROLOGY, V57, P1269
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NR 21
TC 0
Z9 1
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 JUL
PY 2014
VL 55
IS 7
BP 1020
EP 1024
DI 10.1111/epi.12627
PG 5
WC Clinical Neurology
SC Neurosciences & Neurology
GA AN4YI
UT WOS:000340595500015
PM 24754401
ER
PT J
AU Kothare, SV
Singh, K
Chalifoux, JR
Staley, BA
Weiner, HL
Menzer, K
Devinsky, O
AF Kothare, Sanjeev V.
Singh, Kanwaljit
Chalifoux, Jason R.
Staley, Brigid A.
Weiner, Howard L.
Menzer, Kimberly
Devinsky, Orrin
TI Severity of manifestations in tuberous sclerosis complex in relation to
genotype
SO EPILEPSIA
LA English
DT Article
DE Tuberous sclerosis complex; Epilepsy; TSC mutations
ID AUTISM SPECTRUM DISORDERS; GENE-PRODUCTS; TSC2 GENE; EPILEPSY; HAMARTIN;
MUTATIONS
AB Objective: Patients with tuberous sclerosis complex (TSC) commonly present with significant neurologic deficits, including seizures, autism, and intellectual disability. Previous evidence suggests that the TSC2 mutation genotype may be associated with a more severe disease phenotype. This study evaluates the association of the TSC1 and TSC2 genotype with patient and disease characteristics in a retrospective review of a large TSC Natural History Database consisting of 919 patients with TSC.
Methods: Univariate logistic regression was conducted to evaluate the association of the TSC1 and TSC2 gene mutations with patient and disease characteristics.
Results: As compared to patients with the TSC1 mutation, patients with the TSC2 mutation were younger (p = 0.02), more likely to have partial epilepsy (odds ratio (OR) 1.74, p = 0.0015), complex partial seizures (OR 2.03, p = 0.02), infantile spasms (IS) (OR 1.67, p = 0.01), subependymal giant-cell astrocytomas (SEGAs) (OR 1.64, p = 0.01), and intellectual disability (OR 2.90, p = 0.0002).
Significance: The clinical presentation of TSC is highly variable and not well understood. Our findings confirm and supplement existing literature that TSC2 mutation is likely to be associated with a more severe, earlier presenting TSC phenotype, including infantile spasms.
C1 [Kothare, Sanjeev V.; Singh, Kanwaljit; Chalifoux, Jason R.; Weiner, Howard L.; Menzer, Kimberly; Devinsky, Orrin] NYU, Dept Neurol, Langone Med Ctr, Comprehens Epilepsy Ctr, New York, NY 10016 USA.
[Singh, Kanwaljit] Univ Massachusetts, Sch Med, Dept Pediat Neurol, Worcester, MA USA.
[Staley, Brigid A.; Weiner, Howard L.] NYU, Dept Neurosurg, Langone Med Ctr, New York, NY 10016 USA.
RP Kothare, SV (reprint author), NYU, Dept Neurol, Langone Med Ctr, Comprehens Epilepsy Ctr, New York, NY 10016 USA.
EM Sanjeev.Kothare@nyumc.org
CR Au Kit Sing, 2007, Genet Med, V9, P88, DOI 10.1097/GIM.0b013e31803068c7
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NR 20
TC 1
Z9 2
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 JUL
PY 2014
VL 55
IS 7
BP 1025
EP 1029
DI 10.1111/epi.12680
PG 5
WC Clinical Neurology
SC Neurosciences & Neurology
GA AN4YI
UT WOS:000340595500016
PM 24917535
ER
PT J
AU Beillard-Robert, L
AF Beillard-Robert, Ludivine
TI A distinction between the influencing machine and the autistic object
SO EVOLUTION PSYCHIATRIQUE
LA French
DT Article
DE Psychoanalysis; Autism; Psychosis; Psychic structure; Delirium;
Mechanism of defense; Theoretical study; Comparative study; Delirium
with influence
AB While research on autism continues to progress, it is interesting to return to a particular point of view on the conception of Mahler and Elkisch's pathology, including the controversial assumption which was to consider some autistic constructions as preliminary to the development of the 'Influencing Machine'. Consideration of the cas princeps of Tausk, in association with the more detailed Haslam, Porter and Williams, allows a demonstration of the function of these machines within the mental processes of the subjects presented. This subjective work engages the subjects to find the cause of bodily manifestations and hallucinations while delirious. The response is to blame 'Influencing Machines' considered by the subject as driven by an autonomous dynamic system linked to a participating elementary phenomena of psychosis. Gradually the conclusion is reached that there is a machine and this signifies the systematization of psychotic delirium as a result of mental automatism. Different to this, the autistic machine is the result of knowledge that comes from an elaboration trying to compensate for the absence of the symbolic function. While the friends of the psychotic are subject to the same punishment as him, the autistic person is the only one driven by the machines he imagines. Their functioning in connections come to affect the enigma of the body, libidinal function and distinction with the Other. It is a question of created machines, controlled by the autistic person, unlike the delusions of machines by the psychotic subject, where the initiation and execution come from the Other, and which therefore exert an influence on the subject. (C) 2012 Published by Elsevier Masson SAS.
C1 [Beillard-Robert, Ludivine] Univ Rennes 2, Lab Psychopathol & Clin Psychanalyt EA 40 50, F-35043 Rennes, France.
RP Beillard-Robert, L (reprint author), 9Bis, F-35190 Longaulnay, France.
EM ludivine.beillard-robert@orange.fr
CR Bettelheim B, 1967, FORTERESSE VIDE
Grandin T, 1994, MA VIE AUTISTE
Haslam J, 1996, POLITIQUEMENT FOU J
Hulak F, 2003, PENSEE PSYCHOTIQUE C, P13
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NR 14
TC 0
Z9 0
PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
PI PARIS
PA 23 RUE LINOIS, 75724 PARIS, FRANCE
SN 0014-3855
EI 1769-6674
J9 EVOL PSYCHIATR
JI Evol. Psychiatr.
PD JUL-SEP
PY 2014
VL 79
IS 3
BP 527
EP 539
DI 10.1016/j.evopsy.2012.09.003
PG 13
WC Psychiatry
SC Psychiatry
GA AO0EB
UT WOS:000340980800012
ER
PT J
AU Reilly, S
Bishop, DVM
Tomblin, B
AF Reilly, Sheena
Bishop, Dorothy V. M.
Tomblin, Bruce
TI Terminological debate over language impairment in children: forward
movement and sticking points
SO INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS
LA English
DT Editorial Material
DE diagnosis; DSM-5; labels; terminology; specific language impairment
ID NONWORD REPETITION; AUTISM; LITERACY; AGE
AB Background: There is no agreed terminology for describing childhood language problems. In this special issue Reilly et al. and Bishop review the history of the most widely used label, 'specific language impairment' (SLI), and discuss the pros and cons of various terms. Commentators from a range of backgrounds, in terms of both discipline and geographical background, were then invited to respond to each lead article.
Aims: To summarize the main points made by the commentators and identify (1) points of consensus and disagreement, (2) issues for debate including the drivers for change and diagnostic criteria, and (3) the way forward.
Conclusions & Implications: There was some common ground, namely that the current situation is not tenable because it impedes clinical and research progress and impacts on access to services. There were also wide-ranging disagreements about which term should be adopted. However, before debating the broad diagnostic label it is essential to consider the diagnostic criteria and the systems used to classify childhood language problems. This is critical in order to facilitate communication between and among clinicians and researchers, across sectors (in particular health and education), with the media and policy-makers and with families and individuals who have language problems. We suggest four criteria be taken into account when establishing diagnostic criteria, including: (1) the features of language, (2) the impact on functioning and participation, (3) the presence/absence of other impairments, and (4) the language trajectory or pathway and age of onset. In future, these criteria may expand to include the genetic and neural markers for language problems. Finally, there was overarching agreement about the need for an international and multidisciplinary forum to move this debate forward. The purpose would be to develop consensus regarding the diagnostic criteria and diagnostic label for children with language problems. This process should include canvassing the views of families and people with language problems as well as the views of policy-makers.
C1 [Reilly, Sheena] Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia.
[Reilly, Sheena] Univ Melbourne, Dept Paediat, Parkville, Vic 3052, Australia.
[Bishop, Dorothy V. M.] Univ Oxford, Dept Expt Psychol, Oxford OX1 3UD, England.
[Tomblin, Bruce] Univ Iowa, Iowa City, IA USA.
RP Reilly, S (reprint author), Royal Childrens Hosp, Murdoch Childrens Res Inst, Flemington Rd, Parkville, Vic 3052, Australia.
CR American Speech-Language-Hearing Association, 2007, CHILDH APR SPEECH
American Speech-Language-Hearing Association, 2007, TECHNICAL REPORT
AUSTRALIAN INSTITUTE OF HEALTH AND WELFARE (AIHW), 2003, AUSTR I HLTH WELF AI
BAIRD G., 2014, INT J LANG COMM DIS, V49, P381, DOI [10.1111/1460-6984.12101, DOI 10.1111/1460-6984.12101]
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Bercow J., 2008, BERCOW REPORT REV SE
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Bishop DVM, 2014, INT J LANG COMM DIS, V49, P381, DOI 10.1111/1460-6984.12101
BISHOP DVM, 1994, PHILOS T ROY SOC B, V346, P105, DOI 10.1098/rstb.1994.0134
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Fletcher JM, 2009, J INT NEUROPSYCH SOC, V15, P501, DOI 10.1017/S1355617709090900
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GRIST M., 2014, INT J LANG COMM DIS, V49, P416, DOI [10.1111/1460-6984.12102, DOI 10.1111/1460-6984.12102]
HANSSON K., 2014, INT J LANG COMM DIS, V49, P381, DOI [10.1111/1460-6984.12101, DOI 10.1111/1460-6984.12101]
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Nicholson J. M., 2014, INT J LANG COMM DIS, V49, P416, DOI [10.1111/1460-6984.12102, DOI 10.1111/1460-6984.12102]
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SNOWLING M. J., 2014, INT J LANG COMM DIS, V49, P416, DOI [10.1111/1460-6984.12102, DOI 10.1111/1460-6984.12102]
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TAYLOR C. L., 2014, INT J LANG COMM DIS, V49, P381, DOI [10.1111/1460-6984.12101, DOI 10.1111/1460-6984.12101]
Tomblin J. B., 2008, UNDERSTANDING DEV LA, P93
Tomblin J. B., 1999, NEURODEVELOPMENTAL D, P361
TOMBLIN J. B., 2014, UNDERSTANDING INDIVI, P79
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WRIGHT E., 2014, INT J LANG COMM DIS, V49, P416, DOI [10.1111/1460-6984.12102, DOI 10.1111/1460-6984.12102]
Zambrana IM, 2014, INT J LANG COMM DIS, V49, P304, DOI 10.1111/1460-6984.12073
NR 50
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1368-2822
EI 1460-6984
J9 INT J LANG COMM DIS
JI Int. J. Lang. Commun. Disord.
PD JUL-AUG
PY 2014
VL 49
IS 4
BP 452
EP 462
DI 10.1111/1460-6984.12111
PG 11
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AN4ZW
UT WOS:000340599700004
PM 25142092
ER
PT J
AU Greenslade, KJ
Coggins, TE
AF Greenslade, Kathryn J.
Coggins, Truman E.
TI Assessing young children's intention-reading in authentic communicative
contexts: preliminary evidence and clinical utility
SO INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS
LA English
DT Article
DE assessment; children; intention-reading; social communication
ID JOINT ATTENTION; AUTISM; RELIABILITY; MIND; AGE; INVENTORY; LANGUAGE;
INFANCY
AB Background: Identifying what a communication partner is looking at (referential intention) and why (social intention) is essential to successful social communication, and may be challenging for children with social communication deficits. This study explores a clinical task that assesses these intention-reading abilities within an authentic context.
Aims: To gather evidence of the task's reliability and validity, and to discuss its clinical utility.
Methods & Procedures: The intention-reading task was administered to twenty 4-7-year-olds with typical development (TD) and ten with autism spectrum disorder (ASD). Task items were embedded in an authentic activity, and they targeted the child's ability to identify the examiner's referential and social intentions, which were communicated through joint attention behaviours. Reliability and construct validity evidence were addressed using established psychometric methods.
Outcomes & Results: Reliability and validity evidence supported the use of task scores for identifying children whose intention-reading warranted concern. Evidence supported the reliability of task administration and coding, and item-level codes were highly consistent with overall task performance. Supporting task validity, group differences aligned with predictions, with children with ASD exhibiting poorer and more variable task scores than children with TD. Also, as predicted, task scores correlated significantly with verbal mental age and ratings of parental concerns regarding social communication abilities.
Conclusions & Implications: The evidence provides preliminary support for the reliability and validity of the clinical task's scores in assessing young children's real-time intention-reading abilities, which are essential for successful interactions in school and beyond.
C1 [Greenslade, Kathryn J.; Coggins, Truman E.] Univ Washington, Dept Speech & Hearing Sci, Seattle, WA 98105 USA.
RP Greenslade, KJ (reprint author), Univ Washington, Dept Speech & Hearing Sci, Eagleson Hall,1417 NE 42nd St,Box 354875, Seattle, WA 98105 USA.
EM greenskj@uw.edu
FU National Institutes of Health [T32DC000033]
FX The first author was supported by a National Institutes of Health
training grant (Research Training Program in Speech and Hearing
Sciences: T32DC000033) while conducting the present research. The
authors thank the reviewers for their thoughtful contributions to
revisions of this paper. They also acknowledge their colleagues, Lesley
B. Olswang, PamelaCrooke, Julie Feuerstein and Amy Rodda, for cogent
comments. Declaration of interest: The authors report no conflicts of
interest. The authors alone are responsible for the content and writing
of the paper.
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American Psychiatric Association, 2013, DIAGN STAT MAN, V5th
American Speech-Language-Hearing Association, 2006, GUID SPEECH LANG PAT
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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 1368-2822
EI 1460-6984
J9 INT J LANG COMM DIS
JI Int. J. Lang. Commun. Disord.
PD JUL-AUG
PY 2014
VL 49
IS 4
BP 463
EP 477
DI 10.1111/1460-6984.12076
PG 15
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AN4ZW
UT WOS:000340599700005
PM 24684559
ER
PT J
AU Lerna, A
Esposito, D
Conson, M
Massagli, A
AF Lerna, Anna
Esposito, Dalila
Conson, Massimiliano
Massagli, Angelo
TI Long-term effects of PECS on social-communicative skills of children
with autism spectrum disorders: a follow-up study
SO INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS
LA English
DT Article
DE Picture Exchange Communication System (PECS); autism spectrum disorders;
long-term effects; social and communicative skills
ID RANDOMIZED CONTROLLED-TRIAL; JOINT ATTENTION; SYSTEM PECS;
YOUNG-CHILDREN; INTERVENTION; PREDICTORS; PRESCHOOLERS; INDIVIDUALS;
ACQUISITION; IMITATION
AB Background: The Picture Exchange Communication System (PECS) is a popular augmentative communication system frequently used with 'nonverbal' children with autism. Several studies suggested that PECS could represent an effective tool for promoting improvement of several social-communicative skills. Only sparse evidence is instead available on the long-term effectiveness of this treatment system.
Aims: To test the long-term effects of PECS, for which a follow-up study was conducted by assessing social-communicative skills in nonverbal preschool children with autism after 12 months from treatment completion.
Methods & Procedures: Two groups of children (N = 14) were assessed; one group had completed the PECS training and the other conventional language therapy (CLT). At follow-up all children received the same pre- and post-treatment assessment. Outcome measures were the following: Communication and Social domains of Autism Diagnostic Observation Schedule (ADOS); Language and Personal-Social subscales of the Griffiths' Mental Developmental Scales (GMDS); Communication and Social Abilities domains of the Vineland Adaptive Behavior Scales (VABS); and several social-communicative variables coded in an unstructured setting.
Outcomes & Results: The PECS group showed significant improvements compared with the CLT group on ADOS severity scores (Communication, Social and Total), on GMDS Social domain and on VABS Communication and Social domains. PECS-related gains on the VABS Social domain and on specific social-communicative measures coded during free-play, i.e. frequency of joint attention and initiation, and duration of cooperative play, were stable after 1-year follow-up. Cooperative play continued to improve on follow-up with respect to both post-and pre-treatment assessment.
Conclusions & Implications: These findings demonstrated that PECS training can promote long-term enhancement of specific socio-communicative skills in children with autism.
C1 [Lerna, Anna; Esposito, Dalila; Massagli, Angelo] IRCCS Eugenio Medea, Child Psychopathol Unit, Inst Sci, Ostuni, Brindisi, Italy.
[Conson, Massimiliano] Univ Naples 2, Dept Psychol, Neuropsychol Lab, Caserta, Italy.
RP Massagli, A (reprint author), IRCCS Eugenio Medea, Child Psychopathol Unit, Dept Neurorehabil 2, Inst Sci, Ostuni, Brindisi, Italy.
EM angelo.massagli@irccs.os.lnf.it
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Szatmari P, 2003, J CHILD PSYCHOL PSYC, V44, P520, DOI 10.1111/1469-7610.00141
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NR 39
TC 0
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1368-2822
EI 1460-6984
J9 INT J LANG COMM DIS
JI Int. J. Lang. Commun. Disord.
PD JUL-AUG
PY 2014
VL 49
IS 4
BP 478
EP 485
DI 10.1111/1460-6984.12079
PG 8
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AN4ZW
UT WOS:000340599700006
PM 24655345
ER
PT J
AU Loukusa, S
Makinen, L
Kuusikko-Gauffin, S
Ebeling, H
Moilanen, I
AF Loukusa, Soile
Makinen, Leena
Kuusikko-Gauffin, Sanna
Ebeling, Hanna
Moilanen, Irma
TI Theory of mind and emotion recognition skills in children with specific
language impairment, autism spectrum disorder and typical development:
group differences and connection to knowledge of grammatical morphology,
word-finding abilities and verbal working memory
SO INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS
LA English
DT Article
DE specific language impairment; autism spectrum disorder; theory of mind;
emotion recognition
ID UNDERSTANDING EMOTIONS; ASPERGER-SYNDROME; COMPREHENSION; INDIVIDUALS;
CONTEXT; AGE
AB Background: Social perception skills, such as understanding the mind and emotions of others, affect children's communication abilities in real-life situations. In addition to autism spectrum disorder (ASD), there is increasing knowledge that children with specific language impairment (SLI) also demonstrate difficulties in their social perception abilities.
Aims: To compare the performance of children with SLI, ASD and typical development (TD) in social perception tasks measuring Theory of Mind (ToM) and emotion recognition. In addition, to evaluate the association between social perception tasks and language tests measuring word-finding abilities, knowledge of grammatical morphology and verbal working memory.
Method & Procedures: Children with SLI (n = 18), ASD (n = 14) and TD (n = 25) completed two NEPSY-II subtests measuring social perception abilities: (1) Affect Recognition and (2) ToM (includes Verbal and non-verbal Contextual tasks). In addition, children's word-finding abilities were measured with the TWF-2, grammatical morphology by using the Grammatical Closure subtest of ITPA, and verbal working memory by using subtests of Sentence Repetition or Word List Interference (chosen according the child's age) of the NEPSY-II.
Outcomes & Results: Children with ASD scored significantly lower than children with SLI or TD on the NEPSY-II Affect Recognition subtest. Both SLI and ASD groups scored significantly lower than TD children on Verbal tasks of the ToM subtest of NEPSY-II. However, there were no significant group differences on non-verbal Contextual tasks of the ToM subtest of the NEPSY-II. Verbal tasks of the ToM subtest were correlated with the Grammatical Closure subtest and TWF-2 in children with SLI. In children with ASD correlation between TWF-2 and ToM: Verbal tasks was moderate, almost achieving statistical significance, but no other correlations were found.
Conclusions & Implications: Both SLI and ASD groups showed difficulties in tasks measuring verbal ToM but differences were not found in tasks measuring non-verbal Contextual ToM. The association between Verbal ToM tasks and language tests was stronger in children with SLI than in children with ASD. There is a need for further studies in order to understand interaction between different areas of language and cognitive development.
C1 [Loukusa, Soile; Makinen, Leena] Univ Oulu, Fac Humanities, Child Language Res Ctr, FIN-90014 Oulu, Finland.
[Kuusikko-Gauffin, Sanna; Ebeling, Hanna; Moilanen, Irma] Univ Oulu, Fac Med, Inst Clin Med, Dept Child Psychiat, FIN-90014 Oulu, Finland.
[Kuusikko-Gauffin, Sanna; Ebeling, Hanna; Moilanen, Irma] Univ Hosp Oulu, Oulu, Finland.
RP Loukusa, S (reprint author), Univ Oulu, Fac Humanities, Child Language Res Ctr, POB 1000, FIN-90014 Oulu, Finland.
EM soile.loukusa@oulu.fi
FU Academy of Finland; Alma and K. A. Snellman Foundation, Oulu, Finland
FX The authors are grateful to the children and their parents who
participated in this study. This research was financially supported by
the Academy of Finland and the Alma and K. A. Snellman Foundation, Oulu,
Finland. Declaration of interest: The authors report no conflicts of
interest. The authors alone are responsible for the content and writing
of the paper.
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World Health Organization, 1993, INT CLASS MENT BEH D
NR 31
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1368-2822
EI 1460-6984
J9 INT J LANG COMM DIS
JI Int. J. Lang. Commun. Disord.
PD JUL-AUG
PY 2014
VL 49
IS 4
BP 498
EP 507
DI 10.1111/1460-6984.12091
PG 10
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AN4ZW
UT WOS:000340599700008
PM 24888967
ER
PT J
AU Yu, TW
Berry-Kravis, E
AF Yu, Timothy W.
Berry-Kravis, Elizabeth
TI Autism and Fragile X Syndrome
SO SEMINARS IN NEUROLOGY
LA English
DT Article
DE fragile X syndrome; autism spectrum disorder; fragile X mental
retardation protein; fragile X mental retardation 1 geneintellectual
disability
ID DE-NOVO MUTATIONS; COPY-NUMBER VARIATION; SPECTRUM DISORDERS; SYNAPTIC
PLASTICITY; MENTAL-RETARDATION; FUNCTIONAL IMPACT; MOUSE MODEL; CGG
REPEAT; OPEN-LABEL; FMR1 GENE
AB Autistic spectrum disorders (ASDs) are characterized by impairments in language, social skills, and repetitive behaviors, often accompanied by intellectual disability. Advances in the genetics of ASDs are providing new glimpses into the underlying neurobiological mechanisms disrupted in these conditions. These glimpses on one hand reinforce the idea that synapse development and plasticity are one of the major pathways disrupted in autism, but beyond that are providing fresh molecular support to the idea of mechanistic parallels between idiopathic ASD and specific syndromic neurodevelopmental disorders like fragile X syndrome (FXS). Fragile X syndrome is already recognized as the most common identifiable genetic cause of intellectual disability and ASDs, with many overlapping phenotypic features. Fragile X syndrome is associated with a variety of cognitive, behavioral, physical, and medical problems, which are managed through supportive treatment. Recent major advances in the understanding of the underlying neurobiology in FXS have led to the discovery of agents that rescue phenotypes in the FXS mouse model, and early clinical trials of targeted treatments in humans with FXS. Thus translational strategies in FXS may be poised to serve as models for ASD and other cognitive disorders.
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[Yu, Timothy W.] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA.
[Berry-Kravis, Elizabeth] Rush Univ, Med Ctr, Dept Pediat, Chicago, IL 60612 USA.
[Berry-Kravis, Elizabeth] Rush Univ, Med Ctr, Dept Neurol Sci, Chicago, IL 60612 USA.
[Berry-Kravis, Elizabeth] Rush Univ, Med Ctr, Dept Biochem, Chicago, IL 60612 USA.
RP Yu, TW (reprint author), Harvard Univ, Sch Med, Div Genet & Genom, Boston Childrens Hosp, 300 Longwood Ave, Boston, MA 02115 USA.
EM timothy.yu@childrens.harvard.edu; Elizabeth_m_berry-kravis@rush.edu
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NR 96
TC 0
Z9 0
PU THIEME MEDICAL PUBL INC
PI NEW YORK
PA 333 SEVENTH AVE, NEW YORK, NY 10001 USA
SN 0271-8235
EI 1098-9021
J9 SEMIN NEUROL
JI Semin. Neurol.
PD JUL
PY 2014
VL 34
IS 3
BP 258
EP 265
DI 10.1055/s-0034-1386764
PG 8
WC Clinical Neurology
SC Neurosciences & Neurology
GA AO4AQ
UT WOS:000341279000005
PM 25192504
ER
PT J
AU Stockler-Ipsiroglu, S
van Karnebeek, CDM
AF Stockler-Ipsiroglu, Sylvia
van Karnebeek, Clara D. M.
TI Cerebral Creatine Deficiencies: A Group of Treatable Intellectual
Developmental Disorders
SO SEMINARS IN NEUROLOGY
LA English
DT Article
DE GATM; guanidinoacetate methyltransferase; SLC6A8; magnetic resonance
spectroscopy; treatment; intellectual disability; developmental delay;
autism
ID AMIDINOTRANSFERASE AGAT DEFICIENCY; METHYLTRANSFERASE GAMT DEFICIENCY;
TRANSPORTER DEFICIENCY; INBORN ERROR; BRAIN; METABOLISM; ARGININE;
DEFECT; SLC6A8; SPECTRUM
AB Currently there are 91 treatable inborn errors of metabolism that cause intellectual developmental disorders. Cerebral creatine deficiencies (CDD) comprise three of these: arginine: glycine amidinotransferase [AGAT], guanidinoacetate methyltransferase [GAMT], and X-linked creatine transporter deficiency [SLC6A8]. Intellectual developmental disorder and cerebral creatine deficiency are the hallmarks of CDD. Additional clinical features include prominent speech delay, autism, epilepsy, extrapyramidal movement disorders, and signal changes in the globus pallidus. Patients with GAMT deficiency exhibit the most severe clinical spectrum. Myopathy is a distinct feature in AGAT deficiency. Guanidinoacetate (GAA) is the immediate product in the creatine biosynthetic pathway. Low GAA concentrations in urine, plasma, and cerebrospinal fluid are characteristic diagnostic markers for AGAT deficiency, while high GAA concentrations are characteristic markers for GAMT deficiency. An elevated ratio of urinary creatine /creatinine excretion serves as a diagnostic marker in males with SLC6A8 deficiency. Treatment strategies include oral supplementation of high-dose creatine-monohydrate for all three CDD. Guanidinoacetate-reducing strategies (high-dose ornithine, arginine-restricted diet) are additionally employed in GAMT deficiency. Supplementation of substrates for intracerebral creatine synthesis (arginine, glycine) has been used additionally to treat SLC6A8 deficiency. Early recognition and treatment improves outcomes. Normal outcomes in neonatally ascertained siblings from index families with AGAT and GAMT deficiency suggest a potential benefit of newborn screening for these disorders.
C1 [Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara D. M.] Univ British Columbia, Div Biochem Dis, Dept Pediat, BC Childrens Hosp, Vancouver, BC V6H 3V4, Canada.
[Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara D. M.] Univ British Columbia, Treatable Intellectual Disabil Endeavor British C, Vancouver, BC V6H 3V4, Canada.
[Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara D. M.] Univ British Columbia, Child & Family Res Inst, Vancouver, BC V6H 3V4, Canada.
[van Karnebeek, Clara D. M.] Univ British Columbia, Ctr Mol Med & Therapeut, Vancouver, BC V6H 3V4, Canada.
RP Stockler-Ipsiroglu, S (reprint author), Univ British Columbia, Dept Pediat, Child & Family Res Inst, K3-204-4480 Oak St, Vancouver, BC V6H 3V4, Canada.
EM sstockler@cw.bc.ca
FU B.C. Children's Hospital Foundation for TIDE-BC
FX This work was supported by funding from the B.C. Children's Hospital
Foundation for TIDE-BC as the "1st Collaborative Area of Innovation."
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Yu H, 2013, MOL GENET METAB, V110, P465, DOI 10.1016/j.ymgme.2013.09.018
NR 41
TC 0
Z9 0
PU THIEME MEDICAL PUBL INC
PI NEW YORK
PA 333 SEVENTH AVE, NEW YORK, NY 10001 USA
SN 0271-8235
EI 1098-9021
J9 SEMIN NEUROL
JI Semin. Neurol.
PD JUL
PY 2014
VL 34
IS 3
BP 350
EP 356
DI 10.1055/s-0034-1386772
PG 7
WC Clinical Neurology
SC Neurosciences & Neurology
GA AO4AQ
UT WOS:000341279000013
PM 25192512
ER
PT J
AU Hardstaff, S
AF Hardstaff, Sarah
TI "Maybe he's on the toy train": empathising and systemising in an
encounter with David Macaulay's Black and White
SO LITERACY
LA English
DT Article
DE children's literature; autism; fiction; narrative; picture books; reader
response; empathy; perspective-taking
AB This study explores the responses of Abby, a young person with autism, to David Macaulay's 1990 picturebook Black and White. Although both picturebook researchers and autism practitioners focus on the importance of encouraging empathetic responses to fictional characters, I build on Louise Collins' argument that Macaulay's work offers an opportunity to develop a different kind of "moral literacy" (2002, p.31). Different ways of practising and understanding perspective-taking in relation to fiction are considered in light of Abby's responses to Black and White and to fiction more generally. This study, in considering its own weaknesses, also offers a critique of the typical approaches to picturebook research whereby taking the perspective of fictional characters is sometimes seen as indicative of reading competence.
C1 Univ Cambridge, Fac Educ, Cambridge CB2 8PQ, England.
RP Hardstaff, S (reprint author), Univ Cambridge, Fac Educ, Hills Rd, Cambridge CB2 8PQ, England.
EM sarahlayzellhardstaff@gmail.com
CR Arizpe E., 2003, CHILDREN READING PIC
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Keen Suzanne, 2007, EMPATHY NOVEL
Kubrick Stanley, 1980, SHINING
Lewis David, 2001, READING CONT PICTURE
Macaulay D., 1990, BLACK WHITE
MACKEY M., 2003, ART NARRATIVE CHILDH, P101
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Scott Carole, 2006, PICTUREBOOKS WORK
Shyamalan M. Night, 1999, 6 SENSE
NR 20
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1741-4350
EI 1741-4369
J9 LITERACY
JI Literacy
PD JUL
PY 2014
VL 48
IS 2
BP 80
EP 85
DI 10.1111/lit.12033
PG 6
WC Education & Educational Research; Linguistics; Language & Linguistics
SC Education & Educational Research; Linguistics
GA AN4ZB
UT WOS:000340597500005
ER
PT J
AU Jantzie, LL
Getsy, PM
Firl, DJ
Wilson, CG
Miller, RH
Robinson, S
AF Jantzie, L. L.
Getsy, P. M.
Firl, D. J.
Wilson, C. G.
Miller, R. H.
Robinson, S.
TI Erythropoietin attenuates loss of potassium chloride co-transporters
following prenatal brain injury
SO MOLECULAR AND CELLULAR NEUROSCIENCE
LA English
DT Article
DE Calpain; Erythropoietin; Hypoxia-ischemia; KCC2; Perinatal brain injury
ID HYPOXIC-ISCHEMIC ENCEPHALOPATHY; CL-COTRANSPORTER KCC2; RECOMBINANT
ERYTHROPOIETIN; NEUROTROPHIC FACTOR; DOWN-REGULATION; NEUROPATHIC PAIN;
PRETERM INFANTS; CALPAIN; EXPRESSION; PHARMACOKINETICS
AB Therapeutic agents that restore the inhibitory actions of gamma-amino butyric acid (GABA) by modulating intracellular chloride concentrations will provide novel avenues to treat stroke, chronic pain, epilepsy, autism, and neurodegenerative and cognitive disorders. During development, upregulation of the potassium-chloride co-transporter KCC2, and the resultant switch from excitatory to inhibitory responses to GABA guide the formation of essential inhibitory circuits. Importantly, maturation of inhibitory mechanisms is also central to the development of excitatory circuits and proper balance between excitatory and inhibitory networks in the developing brain. Loss of KCC2 expression occurs in postmortem samples from human preterm infant brains with white matter lesions. Here we show that late gestation brain injury in a rat model of extreme prematurity impairs the developmental upregulation of potassium chloride co-transporters during a critical postnatal period of circuit maturation in CA3 hippocampus by inducing a sustained loss of oligomeric KCC2 via a calpain-dependent mechanism. Further, administration of erythropoietin (EPO) in a clinically relevant postnatal dosing regimen following the prenatal injury protects the developing brain by reducing calpain activity, restoring oligomeric KCC2 expression and attenuating KCC2 fragmentation, thus providing the first report of a safe therapy to address deficits in KCC2 expression. Together, these data indicate it is possible to reverse abnormalities in KCC2 expression during the postnatal period, and potentially reverse deficits in inhibitory circuit formation central to cognitive impairment and epileptogenesis. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Jantzie, L. L.; Firl, D. J.; Robinson, S.] Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.
[Jantzie, L. L.; Firl, D. J.; Robinson, S.] Harvard Med Sch, Boston, MA 02115 USA.
[Jantzie, L. L.; Firl, D. J.; Robinson, S.] Boston Childrens Hosp, Dept Neurosurg, Boston, MA 02115 USA.
[Jantzie, L. L.; Firl, D. J.; Robinson, S.] Harvard Med Sch, Boston, MA 02115 USA.
[Getsy, P. M.; Wilson, C. G.] Case Western Reserve Univ, Sch Med, Dept Pediat, Cleveland, OH 44106 USA.
[Miller, R. H.] Case Western Reserve Univ, Sch Med, Dept Neurosci, Cleveland, OH 44106 USA.
RP Robinson, S (reprint author), Boston Childrens Hosp, Dept Neurosurg, Hunnewell 2,300 Longwood Ave, Boston, MA 02115 USA.
EM Shenandoah.Robinson@childrens.harvard.edu
FU National Institute of Neurological Diseases and Stroke at the National
Institutes of Health [RO1 NS060765]
FX This work was supported by the National Institute of Neurological
Diseases and Stroke at the National Institutes of Health (RO1 NS060765
to S.R.). We thank Cecil Yeung, James Messegee, Elizabeth Schick, Mark
Eden, and Qing Li for their exceptional technical assistance. We are
very appreciative of the Boston Children's Hospital Intellectual and
Developmental Disabilities Research Center (BCH IDDRC) Cellular Imaging
Core (P30 HD18655).
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NR 64
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 1044-7431
EI 1095-9327
J9 MOL CELL NEUROSCI
JI Mol. Cell. Neurosci.
PD JUL
PY 2014
VL 61
BP 152
EP 162
DI 10.1016/j.mcn.2014.06.009
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AN6FN
UT WOS:000340690400015
PM 24983520
ER
PT J
AU Warlaumont, AS
Richards, JA
Gilkerson, J
Oller, DK
AF Warlaumont, Anne S.
Richards, Jeffrey A.
Gilkerson, Jill
Oller, D. Kimbrough
TI A Social Feedback Loop for Speech Development and Its Reduction in
Autism
SO PSYCHOLOGICAL SCIENCE
LA English
DT Article
DE social interaction; speech development; autism; socioeconomic status;
rewards
ID AUTOMATED VOCAL ANALYSIS; JOINT ATTENTION; SPECTRUM DISORDER; BRAIN
OVERGROWTH; CHILDREN; LANGUAGE; COMMUNICATION; INTERVENTION; ABILITIES;
INFANTS
AB We analyzed the microstructure of child-adult interaction during naturalistic, daylong, automatically labeled audio recordings (13,836 hr total) of children (8- to 48-month-olds) with and without autism. We found that an adult was more likely to respond when the child's vocalization was speech related rather than not speech related. In turn, a child's vocalization was more likely to be speech related if the child's previous speech-related vocalization had received an immediate adult response rather than no response. Taken together, these results are consistent with the idea that there is a social feedback loop between child and caregiver that promotes speech development. Although this feedback loop applies in both typical development and autism, children with autism produced proportionally fewer speech-related vocalizations, and the responses they received were less contingent on whether their vocalizations were speech related. We argue that such differences will diminish the strength of the social feedback loop and have cascading effects on speech development over time. Differences related to socioeconomic status are also reported.
C1 [Warlaumont, Anne S.] Univ Calif Merced, Merced, CA 95343 USA.
[Richards, Jeffrey A.; Gilkerson, Jill] LENA Res Fdn, Boulder, CO USA.
[Gilkerson, Jill] Univ Colorado, Dept Speech Language & Hearing Sci, Boulder, CO 80309 USA.
[Oller, D. Kimbrough] Univ Memphis, Sch Commun Sci & Disorders, Memphis, TN 38152 USA.
[Oller, D. Kimbrough] Konrad Lorenz Inst Evolut & Cognit Res, Klosterneuburg, Austria.
RP Warlaumont, AS (reprint author), Univ Calif Merced, Sch Social Sci Humanities & Arts, 5200 North Lake Rd, Merced, CA 95343 USA.
EM awarlaumont2@ucmerced.edu
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NR 41
TC 2
Z9 2
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0956-7976
EI 1467-9280
J9 PSYCHOL SCI
JI Psychol. Sci.
PD JUL
PY 2014
VL 25
IS 7
BP 1314
EP 1324
DI 10.1177/0956797614531023
PG 11
WC Psychology, Multidisciplinary
SC Psychology
GA AM8NA
UT WOS:000340131300003
PM 24840717
ER
PT J
AU Oller, JW
AF Oller, John W., Jr.
TI Biosemiotic Entropy: Concluding the Series
SO ENTROPY
LA English
DT Editorial Material
DE agreement condensation; biological signaling systems; biocontrol
systems; biosemiotic entropy; Bose-Einstein condensation; cancers;
encephalopathies; fit-get-rich network theory; information theory;
pathogens; pragmatic information; synergistic effects; true narrative
representations (TNRs)
ID BOSE-EINSTEIN CONDENSATION; CLOZE PROCEDURE; STATISTICAL-MECHANICS;
INFORMATION-THEORY; COMPLEX NETWORKS; SCRAPIE PRIONS; DISEASES; SULFATE;
AUTISM; COMMUNICATION
AB This article concludes the special issue on Biosemiotic Entropy looking toward the future on the basis of current and prior results. It highlights certain aspects of the series, concerning factors that damage and degenerate biosignaling systems. As in ordinary linguistic discourse, well-formedness (coherence) in biological signaling systems depends on valid representations correctly construed: a series of proofs are presented and generalized to all meaningful sign systems. The proofs show why infants must (as empirical evidence shows they do) proceed through a strict sequence of formal steps in acquiring any language. Classical and contemporary conceptions of entropy and information are deployed showing why factors that interfere with coherence in biological signaling systems are necessary and sufficient causes of disorders, diseases, and mortality. Known sources of such formal degeneracy in living organisms (here termed, biosemiotic entropy) include: (a) toxicants, (b) pathogens; (c) excessive exposures to radiant energy and/or sufficiently powerful electromagnetic fields; (d) traumatic injuries; and (e) interactions between the foregoing factors. Just as Jaynes proved that irreversible changes invariably increase entropy, the theory of true narrative representations (TNR theory) demonstrates that factors disrupting the well-formedness (coherence) of valid representations, all else being held equal, must increase biosemiotic entropy-the kind impacting biosignaling systems.
C1 Univ Louisiana Lafayette, Dept Commun Disorders, Lafayette, LA 70504 USA.
RP Oller, JW (reprint author), Univ Louisiana Lafayette, Dept Commun Disorders, Lafayette, LA 70504 USA.
EM joller@louisiana.edu
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NR 93
TC 0
Z9 0
PU MDPI AG
PI BASEL
PA POSTFACH, CH-4005 BASEL, SWITZERLAND
SN 1099-4300
J9 ENTROPY-SWITZ
JI Entropy
PD JUL
PY 2014
VL 16
IS 7
BP 4060
EP 4087
DI 10.3390/e16074060
PG 28
WC Physics, Multidisciplinary
SC Physics
GA AM6QX
UT WOS:000339990800027
ER
PT J
AU Wagner, DV
Borduin, CM
Kanne, SM
Mazurek, MO
Farmer, JE
Brown, RMA
AF Wagner, David V.
Borduin, Charles M.
Kanne, Stephen M.
Mazurek, Micah O.
Farmer, Janet E.
Brown, Rachel M. A.
TI MULTISYSTEMIC THERAPY FOR DISRUPTIVE BEHAVIOR PROBLEMS IN YOUTHS WITH
AUTISM SPECTRUM DISORDERS: A PROGRESS REPORT
SO JOURNAL OF MARITAL AND FAMILY THERAPY
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; INTELLECTUAL DISABILITY; FAMILY
THERAPISTS; COPING STRATEGIES; PARENTING STRESS; PRESCHOOL-CHILDREN;
SOCIAL SUPPORT; YOUNG-ADULTS; ADOLESCENTS; ADJUSTMENT
AB Youths with autism spectrum disorders (ASD) often engage in serious disruptive behaviors that interfere with their ability to successfully manage day-to-day responsibilities and contribute to relationship problems with caregivers, peers, and teachers. Effective treatments are needed to address the factors linked with disruptive behavior problems in this population of youths. Multisystemic therapy (MST) is a comprehensive family-and community-based treatment approach that has been effective with other difficult-to-treat populations of youths and holds promise for youths with ASD. In this article, we review the broad range of factors associated with disruptive behaviors among youths with ASD and discuss how MST interventions can be adapted to address those factors. We also present a framework for our adaptation of the MST model for youths with ASD. This framework includes a recently completed pilot study as well as an ongoing efficacy trial that together have served to identify key interventions for our adaptation of the MST model.
C1 [Wagner, David V.; Borduin, Charles M.; Kanne, Stephen M.; Mazurek, Micah O.; Farmer, Janet E.; Brown, Rachel M. A.] Univ Missouri, Columbia, MO 65211 USA.
RP Borduin, CM (reprint author), Univ Missouri, 108A McAlester Hall,S 6th St, Columbia, MO 65211 USA.
EM borduinc@missouri.edu
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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 0194-472X
EI 1752-0606
J9 J MARITAL FAM THER
JI J. Marital Fam. Ther.
PD JUL
PY 2014
VL 40
IS 3
BP 319
EP 331
DI 10.1111/jmft.12012
PG 13
WC Psychology, Clinical; Family Studies
SC Psychology; Family Studies
GA AM6HF
UT WOS:000339964100005
PM 24749815
ER
PT J
AU Bourne, Y
Marchot, P
AF Bourne, Yves
Marchot, Pascale
TI The Neuroligins and Their Ligands: from Structure to Function at the
Synapse
SO JOURNAL OF MOLECULAR NEUROSCIENCE
LA English
DT Article; Proceedings Paper
CT 14th International Symposium on Cholinergic Mechanisms (ISCM)
CY MAY, 2013
CL Hangzhou, PEOPLES R CHINA
DE Acetylcholinesterase; Adhesion; alpha/beta-hydrolase; Autism; Complex;
Ectodomain; Enzyme; Model; Neurexin; Neuroligin; Partnership; Structure;
Synapse
ID CELL-ADHESION MOLECULES; CRYSTAL-STRUCTURE; BETA-NEUREXINS;
EXTRACELLULAR DOMAIN; INHIBITORY SYNAPSES; ALPHA-NEUREXINS; NMDA
RECEPTORS; PROTEIN; BINDING; ACETYLCHOLINESTERASE
AB The neuroligins are cell adhesion proteins whose extracellular domain belongs to the alpha/beta-hydrolase fold family of proteins, mainly containing enzymes and exemplified by acetylcholinesterase. The ectodomain of postsynaptic neuroligins interacts through a calcium ion with the ectodomain of presynaptic neurexins to form flexible trans-synaptic associations characterized by selectivity for neuroligin or neurexin subtypes. This heterophilic interaction, essential for synaptic differentiation, maturation, and maintenance, is regulated by gene selection, alternative mRNA splicing, and posttranslational modifications. Mutations leading to deficiencies in the expression, folding, maturation, and binding properties of either partner are associated with autism spectrum disorders. The currently available structural and functional data illustrate how these two families of cell adhesion molecules bridge the synaptic cleft to participate in synapse plasticity and support its dynamic nature. Neuroligin partners distinct from the neurexins, and which may undergo either trans or cis interaction, have also been described, and tridimensional structures of some of them are available. Our study emphasizes the partnership versatility of the neuroligin ectodomain associated with molecular flexibility and alternative binding sites, proposes homology models of the structurally non-characterized neuroligin partners, and exemplifies the large structural variability at the surface of the alpha/beta-hydrolase fold subunit. This study also provides new insights into possible surface binding sites associated with non-catalytic properties of the acetylcholinesterase subunit.
C1 [Bourne, Yves; Marchot, Pascale] Aix Marseille Univ, CNRS, F-13288 Marseille 09, France.
RP Bourne, Y (reprint author), Aix Marseille Univ, CNRS, Campus Luminy Case 932, F-13288 Marseille 09, France.
EM yves.bourne@afmb.univ-mrs.fr; pascale.marchot@univ-amu.fr
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NR 75
TC 1
Z9 1
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 JUL
PY 2014
VL 53
IS 3
BP 387
EP 396
DI 10.1007/s12031-014-0234-6
PG 10
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AM6ES
UT WOS:000339956700015
PM 24497299
ER
PT J
AU Nakai, T
Nagai, T
Wang, R
Yamada, S
Kuroda, K
Kaibuchi, K
Yamada, K
AF Nakai, Tsuyoshi
Nagai, Taku
Wang, Rui
Yamada, Shinnosuke
Kuroda, Keisuke
Kaibuchi, Kozo
Yamada, Kiyofumi
TI Alterations of GABAergic and dopaminergic systems in mutant mice with
disruption of exons 2 and 3 of the Disc1 gene
SO NEUROCHEMISTRY INTERNATIONAL
LA English
DT Article
DE Disc1; Dopamine release; Methamphetamine; Parvalbumin-positive
interneuron; Schizophrenia
ID CONDITIONED PLACE PREFERENCE; VENTRAL TEGMENTAL AREA; IN-VIVO
MICRODIALYSIS; PREFRONTAL CORTEX; WORKING-MEMORY; ANIMAL-MODELS;
HIPPOCAMPAL INTERNEURONS; BEHAVIORAL DEFICITS; NEUROTROPHIC FACTOR;
INHIBITORY NEURONS
AB Disrupted-in-schizophrenia-1 (DISC1) has been widely associated with several psychiatric disorders, including schizophrenia, mood disorders and autism. We previously reported that a deficiency of DISCI may induce low anxiety and/or high impulsivity in mice with disruption of exons 2 and 3 of the Disc) gene (Disc1(Delta 2-3/Delta 2-3)). It remains unclear, however, if deficiency of DISCI leads to specific alterations in distinct neuronal systems. In the present study, to understand the role of DISCI in gamma-aminobutyric acid (GABA) interneurons and mesocorticolimbic dopaminergic (DAergic) neurons, we investigated the number of parvalbumin (PV)-positive interneurons, methamphetamine (METH)-induced DA release and the expression levels of GABA(A), DA transporter (DAT) and DA receptors in wild-type (Disc1(+/+)) and Disc1(Delta 2-3/Delta 2-3) mice. Female Disc1(Delta 2-3/Delta 2-3) mice showed a significant reduction of PV-positive interneurons in the hippocampus, while no apparent changes were observed in mRNA expression levels of GABA(A) receptor subunits. METH-induced DA release was significantly potentiated in the nucleus accumbens (NAc) of female Disc1(Delta 2-3/Delta 2-3) mice, although there were no significant differences in the expression levels of DAT. Furthermore, the expression levels of DA receptor mRNA were upregulated in the NAc of female Disc1(Delta 2-3/Delta 2-3) mice. Male Disc1(Delta 2-3/Delta 2-3) mice showed no apparent differences in all experiments. DISCI may play a critical role in gender-specific developmental alteration in GABAergic inhibitory interneurons and DAergic neurons. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Nakai, Tsuyoshi; Nagai, Taku; Wang, Rui; Yamada, Shinnosuke; Yamada, Kiyofumi] Nagoya Univ, Grad Sch Med, Dept Neuropsychopharmacol, Showa Ku, Nagoya, Aichi 4668560, Japan.
[Nakai, Tsuyoshi; Nagai, Taku; Wang, Rui; Yamada, Shinnosuke; Yamada, Kiyofumi] Nagoya Univ, Grad Sch Med, Hosp Pharm, Showa Ku, Nagoya, Aichi 4668560, Japan.
[Kuroda, Keisuke; Kaibuchi, Kozo] Nagoya Univ, Grad Sch Med, Dept Cell Pharmacol, Showa Ku, Nagoya, Aichi 4668560, Japan.
RP Yamada, K (reprint author), Nagoya Univ, Grad Sch Med, Dept Neuropsychopharmacol, Showa Ku, 65 Tsuruma Cho, Nagoya, Aichi 4668560, Japan.
EM kyamada@med.nagoya-u.ac.jp
RI Kuroda, Keisuke/K-5255-2013
OI Kuroda, Keisuke/0000-0002-6715-5125
FU JSPS KAKENHI from JST [243493]; JSPS; SRPBS from MEXT, CREST; MEXT
[24111518, 25116515, 25460093, 26670121, 26293053]; MHLW
[H25-Iyaku-Ippan-020]; Intramural Research Grant for Neurological and
Psychiatric Disorders of NCNP [24-12]; SRF Grant for Biomedical Research
FX We thank the Division for Research of Laboratory Animals, Center for
Research of Laboratory Animals and Medical Research Engineering
(Technical Staff, Yasutaka Ohya and Kumiko Yano) for animal care and
use. This work was supported by the following funding sources: JSPS
KAKENHI (243493) from JST, Exploratory Research from JSPS, "Integrated
Research on Neuropsychiatric Disorders" and "Bioinformatics for Brain
Sciences" carried out under the SRPBS from MEXT, CREST, Grants-in-Aid
for Scientific Research (24111518, 25116515, 25460093, 26670121,
26293053) from the MEXT, Health and Labour Sciences Research Grant
(H25-Iyaku-Ippan-020) from MHLW, Intramural Research Grant (24-12) for
Neurological and Psychiatric Disorders of NCNP and SRF Grant for
Biomedical Research.
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NR 101
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0197-0186
EI 1872-9754
J9 NEUROCHEM INT
JI Neurochem. Int.
PD JUL
PY 2014
VL 74
BP 74
EP 83
DI 10.1016/j.neuint.2014.06.009
PG 10
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AN0YJ
UT WOS:000340309600010
PM 24973713
ER
PT J
AU Jenkins, TG
Aston, KI
Pflueger, C
Cairns, BR
Carrell, DT
AF Jenkins, Timothy G.
Aston, Kenneth I.
Pflueger, Christian
Cairns, Bradley R.
Carrell, Douglas T.
TI Age-Associated Sperm DNA Methylation Alterations: Possible Implications
in Offspring Disease Susceptibility
SO PLOS GENETICS
LA English
DT Article
ID PARENTAL AGE; PATERNAL AGE; HUNTINGTONS-DISEASE; CHILDHOOD LEUKEMIA;
BIPOLAR DISORDER; TELOMERE LENGTH; TNXB LOCUS; GENE; SCHIZOPHRENIA; SEX
AB Recent evidence demonstrates a role for paternal aging on offspring disease susceptibility. It is well established that various neuropsychiatric disorders (schizophrenia, autism, etc.), trinucleotide expansion associated diseases (myotonic dystrophy, Huntington's, etc.) and even some forms of cancer have increased incidence in the offspring of older fathers. Despite strong epidemiological evidence that these alterations are more common in offspring sired by older fathers, in most cases the mechanisms that drive these processes are unclear. However, it is commonly believed that epigenetics, and specifically DNA methylation alterations, likely play a role. In this study we have investigated the impact of aging on DNA methylation in mature human sperm. Using a methylation array approach we evaluated changes to sperm DNA methylation patterns in 17 fertile donors by comparing the sperm methylome of 2 samples collected from each individual 9-19 years apart. With this design we have identified 139 regions that are significantly and consistently hypomethylated with age and 8 regions that are significantly hypermethylated with age. A representative subset of these alterations have been confirmed in an independent cohort. A total of 117 genes are associated with these regions of methylation alterations (promoter or gene body). Intriguingly, a portion of the age-related changes in sperm DNA methylation are located at genes previously associated with schizophrenia and bipolar disorder. While our data does not establish a causative relationship, it does raise the possibility that the age-associated methylation of the candidate genes that we observe in sperm might contribute to the increased incidence of neuropsychiatric and other disorders in the offspring of older males. However, further study is required to determine whether, and to what extent, a causative relationship exists.
C1 [Jenkins, Timothy G.; Aston, Kenneth I.; Carrell, Douglas T.] Univ Utah, Sch Med, Dept Surg, Androl & IVF Labs, Salt Lake City, UT 84112 USA.
[Pflueger, Christian; Cairns, Bradley R.] Univ Utah, Sch Med, Huntsman Canc Inst, Dept Oncol Sci, Salt Lake City, UT USA.
[Cairns, Bradley R.] Howard Hughes Med Inst, Chevy Chase, MD USA.
[Carrell, Douglas T.] Univ Utah, Sch Med, Dept Genet, Salt Lake City, UT USA.
[Carrell, Douglas T.] Univ Utah, Sch Med, Dept Obstet & Gynecol, Salt Lake City, UT 84132 USA.
RP Jenkins, TG (reprint author), Univ Utah, Sch Med, Dept Surg, Androl & IVF Labs, Salt Lake City, UT 84112 USA.
EM Brad.Cairns@hci.utah.edu; douglas.carrell@hsc.utah.edu
FU University of Utah Center on Aging
FX An internal University of Utah small grant from the "University of Utah
Center on Aging" was used for this study. Additionally, clinical funds
were used for this study. No outside grant agency funds were applied.
The funders had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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PY 2014
VL 10
IS 7
AR e1004458
DI 10.1371/journal.pgen.1004458
PG 13
WC Genetics & Heredity
SC Genetics & Heredity
GA AM5ME
UT WOS:000339902600016
PM 25010591
ER
PT J
AU Tulgren, ED
Turgeon, SM
Opperman, KJ
Grill, B
AF Tulgren, Erik D.
Turgeon, Shane M.
Opperman, Karla J.
Grill, Brock
TI The Nesprin Family Member ANC-1 Regulates Synapse Formation and Axon
Termination by Functioning in a Pathway with RPM-1 and beta-Catenin
SO PLOS GENETICS
LA English
DT Article
ID UBIQUITIN LIGASE RPM-1; MAP KINASE PATHWAY; C-ELEGANS RPM-1;
CAENORHABDITIS-ELEGANS; NUCLEAR-ENVELOPE; WNT PATHWAY;
NEUROMUSCULAR-JUNCTION; GLUTAMATE RECEPTORS; NEURONAL MIGRATION; NEURITE
OUTGROWTH
AB Mutations in Nesprin-1 and 2 (also called Syne-1 and 2) are associated with numerous diseases including autism, cerebellar ataxia, cancer, and Emery-Dreifuss muscular dystrophy. Nesprin-1 and 2 have conserved orthologs in flies and worms called MSP-300 and abnormal nuclear Anchorage 1 (ANC-1), respectively. The Nesprin protein family mediates nuclear and organelle anchorage and positioning. In the nervous system, the only known function of Nesprin-1 and 2 is in regulation of neurogenesis and neural migration. It remains unclear if Nesprin-1 and 2 regulate other functions in neurons. Using a proteomic approach in C. elegans, we have found that ANC-1 binds to the Regulator of Presynaptic Morphology 1 (RPM-1). RPM-1 is part of a conserved family of signaling molecules called Pam/Highwire/RPM-1 (PHR) proteins that are important regulators of neuronal development. We have found that ANC-1, like RPM-1, regulates axon termination and synapse formation. Our genetic analysis indicates that ANC-1 functions via the beta-catenin BAR-1, and the ANC-1/BAR-1 pathway functions cell autonomously, downstream of RPM-1 to regulate neuronal development. Further, ANC-1 binding to the nucleus is required for its function in axon termination and synapse formation. We identify variable roles for four different Wnts (LIN-44, EGL-20, CWN-1 and CWN-2) that function through BAR-1 to regulate axon termination. Our study highlights an emerging, broad role for ANC-1 in neuronal development, and unveils a new and unexpected mechanism by which RPM-1 functions.
C1 [Tulgren, Erik D.] Univ Minnesota, Dept Pharmacol, Minneapolis, MN 55455 USA.
[Turgeon, Shane M.; Opperman, Karla J.; Grill, Brock] Scripps Res Inst Florida, Dept Neurosci, Jupiter, FL USA.
RP Tulgren, ED (reprint author), Univ Minnesota, Dept Pharmacol, 3-249 Millard Hall, Minneapolis, MN 55455 USA.
EM bgrill@scripps.edu
FU NIH [R01 NS072129]; NSF [IOS-1121095]
FX BG was supported by the NIH (R01 NS072129) and the NSF (IOS-1121095).
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 90
TC 6
Z9 6
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 JUL
PY 2014
VL 10
IS 7
AR e1004481
DI 10.1371/journal.pgen.1004481
PG 16
WC Genetics & Heredity
SC Genetics & Heredity
GA AM5ME
UT WOS:000339902600033
PM 25010424
ER
PT J
AU St Peter, CC
Brunson, LY
Cook, JE
Subramaniam, S
Larson, NA
Clingan, M
Poe, SG
AF St Peter, Claire C.
Brunson, Lashanna Y.
Cook, James E.
Subramaniam, Shrinidhi
Larson, Nicholas A.
Clingan, Mark
Poe, Susannah G.
TI ADHERENCE TO DISCRETE-TRIAL INSTRUCTION PROCEDURES BY RURAL PARENTS OF
CHILDREN WITH AUTISM
SO BEHAVIORAL INTERVENTIONS
LA English
DT Article
ID TEACHING SKILLS; DRUG-THERAPY; STAFF; IMPLEMENTATION; INTERVENTION;
ASSESSMENTS; ACQUISITION; PERFORMANCE; PREFERENCE; BEHAVIOR
AB Parents of children with autism spectrum disorders may not attempt treatment, even when effective treatment options are available. Little is known about how to improve frequency of attempts to implement treatment ('treatment adherence'). We provided 32 rural parents of young children with autism spectrum disorders with either written or video training materials about how to implement discrete-trial instruction and compared parental adherence between the written (control) and video (experimental) groups. Parents who received video instructions adhered to the training procedures to a significantly greater extent than did parents who received written instructions, suggesting that instruction format is a predictor of training success. Copyright (C) 2014 John Wiley & Sons, Ltd.
C1 [St Peter, Claire C.; Cook, James E.; Subramaniam, Shrinidhi] W Virginia Univ, Dept Psychol, Morgantown, WV 26506 USA.
[Brunson, Lashanna Y.; Larson, Nicholas A.; Clingan, Mark; Poe, Susannah G.] W Virginia Univ, Ctr Excellence Disabil, Morgantown, WV 26505 USA.
RP St Peter, CC (reprint author), W Virginia Univ, Dept Psychol, POB 6040, Morgantown, WV 26506 USA.
EM Claire.StPeter@mail.wvu.edu
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NR 36
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1072-0847
EI 1099-078X
J9 BEHAV INTERVENT
JI Behav. Intervent.
PD JUL
PY 2014
VL 29
IS 3
BP 200
EP 212
DI 10.1002/bin.1386
PG 13
WC Psychology, Clinical
SC Psychology
GA AM6EG
UT WOS:000339955100003
ER
PT J
AU Guercio, JM
Murray, WJ
AF Guercio, John M.
Murray, William J.
TI LICENSURE FOR BEHAVIOR ANALYSTS: THE PATH TO RESPONSIBLE AND COOPERATIVE
ACTION
SO BEHAVIORAL INTERVENTIONS
LA English
DT Article
ID CHILDREN; AUTISM; DISORDER
AB The increase in the prevalence of autism spectrum disorders in the last decade has contributed to growth in the field of applied behavior analysis (ABA). This growth has been spurred by consumer demand for access to this evidence-based treatment for those with an autism spectrum disorder. Presently, there are at least 34 states that have laws or regulations in place that mandate insurance coverage for autism spectrum disorders. There are also 14 states that have passed licensure or a similar regulatory mechanism for identifying competent providers of ABA. The following paper documents the process of insuring consumer advocacy and protection in the states of Missouri and Wisconsin through the passage of legislation that established licensure for practitioners of ABA. The evolution of this process in both of these states will be detailed as well as a number of lessons learned that should prove to be helpful as additional states move toward licensure for practitioners of ABA. Copyright (C) 2014 John Wiley & Sons, Ltd.
C1 [Guercio, John M.] Missouri Assoc Behav Anal, St Louis, MO USA.
[Murray, William J.] Wisconsin Assoc Behav Anal, Madison, WI USA.
RP Guercio, JM (reprint author), AWS, 1215 Fern Ridge Pkwy Ste 204, St Louis, MO 63141 USA.
EM jguercio@gtec.com
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NR 18
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1072-0847
EI 1099-078X
J9 BEHAV INTERVENT
JI Behav. Intervent.
PD JUL
PY 2014
VL 29
IS 3
BP 225
EP 240
DI 10.1002/bin.1388
PG 16
WC Psychology, Clinical
SC Psychology
GA AM6EG
UT WOS:000339955100005
ER
PT J
AU Wetie, AGN
Wormwood, K
Thome, J
Dudley, E
Taurines, R
Gerlach, M
Woods, AG
Darie, CC
AF Wetie, Armand G. Ngounou
Wormwood, Kelly
Thome, Johannes
Dudley, Edward
Taurines, Regina
Gerlach, Manfred
Woods, Alisa G.
Darie, Costel C.
TI A pilot proteomic study of protein markers in autism spectrum disorder
SO ELECTROPHORESIS
LA English
DT Article
DE Apolipoprotein; ASD; Autism; Biomarkers; Cholesterol; Oxidative stress
ID APOLIPOPROTEIN-A-IV; INTENSIVE BEHAVIORAL INTERVENTION; EXPANDED FMR1
ALLELES; LEMLI-OPITZ-SYNDROME; INTRON 1 METHYLATION; DE-NOVO MUTATIONS;
MASS-SPECTROMETRY; CEREBROSPINAL-FLUID; MENTAL-RETARDATION; FEMALE
CARRIERS
AB Autism spectrum disorder (ASD) diagnosis is increasing, with 1/88 children believed to be affected by the disorder, with a most recent survey suggesting numbers as high as 1/50. Treatment and understanding of ASD causes is a pressing health concern. ASD protein biomarkers may provide clues about ASD cause. Protein biomarkers for ASDs could be used for ASD diagnosis, subtyping, treatment monitoring, and identifying therapeutic targets. Here, we analyzed the sera from seven children with ASD and seven matched controls using Tricine gel electrophoresis (Tricine-PAGE) and LC-MS/MS. Overall, we found increased levels of apolipoproteins ApoA1 and ApoA4, involved in cholesterol metabolism and of serum paraoxanase/arylesterase 1, involved in preventing oxidative damage, in the sera of children with ASD, compared with their matched controls. All three proteins are predicted to interact with each other and are parts of high-density lipoproteins. Further studies are needed to validate these findings in larger subject numbers.
C1 [Wetie, Armand G. Ngounou; Wormwood, Kelly; Woods, Alisa G.; Darie, Costel C.] Clarkson Univ, Dept Chem & Biomol Sci, Biochem & Prote Grp, Potsdam, NY 13699 USA.
[Thome, Johannes] Univ Rostock, Dept Psychiat, D-18055 Rostock, Germany.
[Thome, Johannes; Dudley, Edward] Swansea Univ, Coll Med, Swansea, W Glam, Wales.
[Taurines, Regina; Gerlach, Manfred] Univ Wurzburg, Dept Child & Adolescent Psychiat, Wurzburg, Germany.
RP Darie, CC (reprint author), Clarkson Univ, Dept Chem & Biomol Sci, Biochem & Prote Grp, 8 Clarkson Ave, Potsdam, NY 13699 USA.
EM cdarie@clarkson.edu
FU U.S./Army Research Office (DURIP) [W911NF-11-1-0304]; David A. Walsh '67
Fellowship
FX We thank Mr. Tobias Ternent (PRIDE Team) for support in submission of
the mass spectrometry data to the ProteomeX-change Consortium via the
PRIDE repository. This work was supported partially by the U.S./Army
Research Office (DURIP grant #W911NF-11-1-0304 to C.C.D.), private
donations, the Alexander von Humboldt Foundation (A.G.W.) and the
generosity of SciFund Challenge-3 donors. KLW and CCD were supported
during the Summer 2013 by the David A. Walsh '67 Fellowship.
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NR 70
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0173-0835
EI 1522-2683
J9 ELECTROPHORESIS
JI Electrophoresis
PD JUL
PY 2014
VL 35
IS 14
BP 2046
EP 2054
DI 10.1002/elps.201300370
PG 9
WC Biochemical Research Methods; Chemistry, Analytical
SC Biochemistry & Molecular Biology; Chemistry
GA AM2EG
UT WOS:000339661300016
ER
PT J
AU Fujiwara, T
Kawachi, I
AF Fujiwara, Takeo
Kawachi, Ichiro
TI Are Maternal Social Networks and Perceptions of Trust Associated with
Suspected Autism Spectrum Disorder in Offspring? A Population-Based
Study in Japan
SO PLOS ONE
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; QUALITY-OF-LIFE; ZINC-DEFICIENCY;
PARENTAL AGE; CHILDREN; RISK; HEALTH; COPPER; LEVEL
AB Objective: To investigate the associations of maternal social networks and perceptions of trust with the prevalence of suspected autism spectrum disorders in 18-month-old offspring in Japan.
Methods: Questionnaires included measurements of maternal social networks (number of relatives or friends they could call upon for assistance), maternal perceptions of trust, mutual assistance (i.e. individual measures of "cognitive social capital"), and social participation (i.e. individual measures of "structural social capital") as well as the Modified Checklist for Autism in Toddlers to detect suspected autism spectrum disorder (ASD). These tools were mailed to all families with 18-month-old toddlers in Chiba, a city near Tokyo (N = 6061; response rate: 64%). The association between social capital or social network indicators and suspected ASD were analyzed, adjusted for covariates by logistic regression analysis.
Results: Low maternal social trust was found to be significantly positively associated with suspected ASD in toddlers compared with high maternal social trust (adjusted odds ratio [OR]: 1.82, 95% confidence interval [CI]: 1.38 to 2.40); mutual aid was also significantly positively related (low vs. high: OR, 1.82, 95% CI: 1.38 to 2.40). However, maternal community participation showed U-shape association with suspected ASD of offspring. Maternal social network showed consistent inverse associations with suspected ASD of offspring, regardless of the type of social connection (e. g., relatives, neighbors, or friends living outside of their neighborhood).
Conclusions: Mothers' cognitive social capital and social networks, but not structural social capital, might be associated with suspected ASD in offspring.
C1 [Fujiwara, Takeo] Natl Res Inst Child Hlth & Dev, Dept Social Med, Setagaya Ku, Tokyo, Japan.
[Kawachi, Ichiro] Harvard Univ, Sch Publ Hlth, Dept Soc & Behav Sci, Boston, MA 02115 USA.
RP Fujiwara, T (reprint author), Natl Res Inst Child Hlth & Dev, Dept Social Med, Setagaya Ku, Tokyo, Japan.
EM fujiwara-tk@ncchd.go.jp
FU Ministry of Education, Culture, Sports, Science and Technology KAKENHI
[21119003]
FX This study was supported by grants from a Grant-in-aid for Scientific
Research on Innovative Areas, Ministry of Education, Culture, Sports,
Science and Technology KAKENHI (21119003). 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 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 JUL 1
PY 2014
VL 9
IS 7
AR e101359
DI 10.1371/journal.pone.0101359
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AM1UX
UT WOS:000339635000096
PM 24983630
ER
PT J
AU Cheng, H
Chang, CC
Chang, YC
Lee, WK
Tzang, RF
AF Cheng, Helen
Chang, Cheng-Chen
Chang, Yue-Cune
Lee, Wen-Kuei
Tzang, Ruu-Fen
TI A Pilot Study: Association between Minor Physical Anomalies in Childhood
and Future Mental Problems
SO PSYCHIATRY INVESTIGATION
LA English
DT Article
DE Minor physical anomalies; Psychiatric symptom
ID NORMAL-CHILDREN; BEHAVIOR; SCHIZOPHRENIA; FAMILIES; AUTISM
AB Objective This study aims to investigate association between early recognizable minor physical abnormality (MPA) during childhood is associated with mental health problems in young adults.
Methods In 1984, 169 preschool children in central Taiwan underwent a detailed physical examination for subtle abnormalities (MPA). Fourteen years later, the Brief Symptom Rating Scale (BSRS) and Chinese Health Questionnaire (CHQ) were used to measure specific psychiatric symptoms.
Results There is an association between MPA during childhood and adult characterized with interpersonal, sensitivity, anxiety, depression and paranoid mental health symptoms.
Conclusion The signs of childhood MPA can be easily identified and should be regarded as risk factors when predicting mental disorder. Mental health professionals should consider MPAs as important signs for possible development of emotional problems.
C1 [Cheng, Helen; Chang, Cheng-Chen] Changhua Christian Hosp, Dept Psychiat, Changhua, Taiwan.
[Chang, Cheng-Chen] Chung Shan Med Univ, Inst Med, Taichung, Taiwan.
[Chang, Yue-Cune] Tamkang Univ, Dept Math, Taipei, Taiwan.
[Lee, Wen-Kuei] Triserv Gen Hosp, Beitou Branch, Dept Psychiat, Taipei, Taiwan.
[Tzang, Ruu-Fen] Mackay Mem Hosp, Dept Psychiat, Taipei 104, Taiwan.
[Tzang, Ruu-Fen] Natl Taipei Univ Nursing & Hlth Sci, Dept Hlth Care Management, Taipei, Taiwan.
RP Tzang, RF (reprint author), Mackay Mem Hosp, Dept Psychiat, 92,Sec 2,Chung Shan N Rd, Taipei 104, Taiwan.
EM rf.tzang@msa.hinet.net
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NR 22
TC 0
Z9 0
PU KOREAN NEUROPSYCHIATRIC ASSOC
PI SEOUL
PA RN 522, G-FIVE CENTRAL PLAZA 1685-8 SEOCHO 4-DONG, SEOCHO-GU, SEOUL,
137-882, SOUTH KOREA
SN 1738-3684
EI 1976-3026
J9 PSYCHIAT INVEST
JI Psychiatry Investig.
PD JUL
PY 2014
VL 11
IS 3
BP 228
EP 231
DI 10.4306/pi.2014.11.3.228
PG 4
WC Psychiatry
SC Psychiatry
GA AM3SV
UT WOS:000339774000003
PM 25110493
ER
PT J
AU Say, GN
Sahin, B
Aslan, K
Akbas, S
Incesu, L
Ceyhan, M
AF Say, Gokce Nur
Sahin, Bunyamin
Aslan, Kerim
Akbas, Seher
Incesu, Lutfi
Ceyhan, Meltem
TI Increased Laterality of the Thalamus in Children and Adolescents with
Asperger's Disorder: An MRI and Proton Spectroscopy Study
SO PSYCHIATRY INVESTIGATION
LA English
DT Article
DE Asperger; Autism; Thalamus; Laterality; Language; Children
ID AUTISM SPECTRUM DISORDERS; BRAIN SIZE; VOLUME; IMAGES
AB Objective Thalamic abnormalities have been reported in people with pervasive developmental disorders (PDD) including Asperger's Disorder (ASP). The aim of the present study was to compare the volume and volume fraction of the thalamus and the metabolite concentrations in children and adolescents with ASP using the magnetic resonance imaging and proton magnetic resonance spectroscopy. Additionally, the relationships between thalamic abnormalities and clinical features were examined.
Methods Volume and volume fractional and metabolic measurements of bilateral thalamus were collected from 15 boys with ASP with a total IQ over 70 (age range 7-18 years, mean age 11.6 +/- 3.79 years), and 15 healthy controls matching age, sex and IQ. The thalamic volumes, hemisphere volumes and total brain volumes (TBV) were estimated using the stereological methods on magnetic resonance images. Chemical metabolites of thalamus were evaluated by H-1 spectroscopy.
Results No differences in thalamic volumes, volume fractions and metabolites were observed between the groups. There were significant correlation between thalamic volume and total brain volume in both groups. The ASP group showed a significant left-minus-right thalamus difference as well as a significantly greater laterality index. In addition, a significant correlation between the laterality index and Autism Behavior Checklist language scores was observed.
Conclusion Findings from this investigation point to a significant increase in laterality of the thalamus and a relationship with language problems in individuals with ASP. Our findings suggest that thalamic abnormalities may be related to mild language problems observed in ASP.
C1 [Say, Gokce Nur; Akbas, Seher] Ondokuz Mayis Univ, Fac Med, Dept Child & Adolescent Psychiat, TR-55139 Kurupelit, Samsun, Turkey.
[Sahin, Bunyamin] Ondokuz Mayis Univ, Fac Med, Dept Anat, TR-55139 Kurupelit, Samsun, Turkey.
[Aslan, Kerim; Incesu, Lutfi; Ceyhan, Meltem] Ondokuz Mayis Univ, Fac Med, Dept Radiol, TR-55139 Kurupelit, Samsun, Turkey.
RP Say, GN (reprint author), Ondokuz Mayis Univ, Tip Fak Hastanesi, Cocuk & Ergen Psikiyatrisi Anabilim Dali, TR-55139 Kurupelit, Samsun, Turkey.
EM gokcenurtasdemir@yahoo.com.tr
RI Sahin, Bunyamin/L-5414-2014
OI Sahin, Bunyamin/0000-0001-8538-8443
FU Ondokuz Mayis University Scientific Research
FX This study was supported by Ondokuz Mayis University Scientific Research
Funding.
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 20
TC 0
Z9 0
PU KOREAN NEUROPSYCHIATRIC ASSOC
PI SEOUL
PA RN 522, G-FIVE CENTRAL PLAZA 1685-8 SEOCHO 4-DONG, SEOCHO-GU, SEOUL,
137-882, SOUTH KOREA
SN 1738-3684
EI 1976-3026
J9 PSYCHIAT INVEST
JI Psychiatry Investig.
PD JUL
PY 2014
VL 11
IS 3
BP 237
EP 242
DI 10.4306/pi.2014.11.3.237
PG 6
WC Psychiatry
SC Psychiatry
GA AM3SV
UT WOS:000339774000005
PM 25110495
ER
PT J
AU Yoo, HJ
Yang, SY
Cho, IH
Park, M
Kim, SA
AF Yoo, Hee Jeong
Yang, So Young
Cho, In Hee
Park, Mira
Kim, Soon Ae
TI Polymorphisms of BDNF Gene and Autism Spectrum Disorders: Family Based
Association Study with Korean Trios
SO PSYCHIATRY INVESTIGATION
LA English
DT Article
DE Autism spectrum disorders; Brain derived neurotropic factor;
Quantitative transmission disequilibrium test; Family based association
study
ID NEUROTROPHIC FACTOR; MENTAL-RETARDATION; SYNAPSES; SERUM
AB Objective Autism spectrum disorders (ASPS) are a group of early childhood-onset neurodevelopmental disorders characterized by deficits in social interaction and language skills, and repetitive behaviors. Brain-derived neurotrophic factor (BDNF) plays a critical role in the differentiation of normal neuronal cells during embryonic and postnatal neuronal development through its neurotrophic effects.
Methods In this study, we performed a family-based association test (FBAT) between single nucleotide polymorphisms (SNPs; rs6265, rs11030101, rs7103411, and rs7103873) or haplotypes in the BDNF gene and affection status Or several quantitative traits characterized by ADI-R with 151 Korean trios, including a child diagnosed as ASDs.
Results While no significant association was found between SNPs or haplotypes and the ASDs disease status, a quantitative transmission disequilibrium test (QTDT) by using quantitative traits identified associations of the SNPs (rs6265 and rs11030101) with a domain score for "Restricted, Repetitive and Stereotyped patterns of behavior" (C domain), especially at the subdomain scores for "encompassing preoccupation or circumscribed pattern of interest" (C1) (rs6265A allele, dominant model, p-value=0.019; rs11030101 A allele, additive model, p-value=0.015) and "preoccupations with part of objects or non-functional elements of material" (C4) (rs11030101 A allele, additive Model, p-value=0.015) within the ADI-R diagnostic algorithm. In addition, significant associations were also identified between the haplotypes and these quantitative traits (C1, p-value=0.016; C4, p-Value=0.012).
Conclusion We conclude that BDNF gene polymorphisms have a possible role in the pathogenesis of ASDs.
C1 [Yoo, Hee Jeong] Seoul Natl Univ, Bundang Hosp, Dept Neuropsychiat, Songnam, South Korea.
[Yang, So Young] Chungnam Natl Univ, Coll Pharm, Dept Pharmacol, Taejon, South Korea.
[Cho, In Hee] Gachon Univ Med & Sci, Dept Psychiat, Inchon, South Korea.
[Park, Mira] Eulji Univ, Sch Med, Dept Prevent Med, Taejon 301768, South Korea.
[Kim, Soon Ae] Eulji Univ, Sch Med, Dept Pharmacol, Taejon 301768, South Korea.
RP Kim, SA (reprint author), Eulji Univ, Sch Med, Dept Pharmacol, 77 Gyeryong Ro, Taejon 301768, South Korea.
EM sakim@eulji.ac.kr
FU National Research Foundation of Korea (NRF) - Korea government (MEST)
[2010-0007583]; Korea Healthcare Technology R&D Project from the
Ministry of Health and Welfare, Republic of Korea [A120029]; Basic
Science Research Program through the National Research Foundation of
Korea (NRF) - Ministry of Education, Science and Technology
[20100012133]
FX This work was supported by the National Research Foundation of Korea
(NRF) grant funded by the Korea government (MEST) (2010-0007583). This
work was also supported by a research grant from Korea Healthcare
Technology R&D Project (A120029) from the Ministry of Health and
Welfare, Republic of Korea. Mira Park was was supported by the Basic
Science Research Program through the National Research Foundation of
Korea (NRF) funded by the Ministry of Education, Science and Technology
(20100012133).
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Z9 0
PU KOREAN NEUROPSYCHIATRIC ASSOC
PI SEOUL
PA RN 522, G-FIVE CENTRAL PLAZA 1685-8 SEOCHO 4-DONG, SEOCHO-GU, SEOUL,
137-882, SOUTH KOREA
SN 1738-3684
EI 1976-3026
J9 PSYCHIAT INVEST
JI Psychiatry Investig.
PD JUL
PY 2014
VL 11
IS 3
BP 319
EP 324
DI 10.4306/pi.2014.11.3.319
PG 6
WC Psychiatry
SC Psychiatry
GA AM3SV
UT WOS:000339774000016
PM 25110506
ER
PT J
AU Perkins, MR
AF Perkins, Michael R.
TI Linguistic recycling in typical and atypical interaction
SO CLINICAL LINGUISTICS & PHONETICS
LA English
DT Article
DE Alignment; interaction; linguistic recycling; memory; priming
ID LANGUAGE; AUTISM; COMMUNICATION; CONVERSATION; PSYCHOLOGY; REPETITION;
ECHOLALIA; ALIGNMENT
AB I present evidence that linguistic "recycling" - i.e., the redeployment of linguistic material from prior utterances during conversation - is a striking and prevalent feature not only of interaction between typical speakers, but also, and notably, of interaction involving the communication impaired. In the latter case, recycling may sometimes be used as a compensatory communicative resource when linguistic ability is compromised. Despite its prevalence, however, recycling has largely been ignored by clinical linguists. In addition to providing illustrations of linguistic recycling across a range of communication disorders, I also examine how it is subserved by phenomena such as priming, short-term memory and alignment. I subsequently argue for a shift in perspective that puts recycling at the heart of our perception of how typical and atypical interaction works, and suggest a number of potential benefits for clinical linguistics, ranging from the way we understand and analyse communication disorders to how we assess and treat them.
C1 Univ Sheffield, Dept Human Commun Sci, Sheffield S10 2TS, S Yorkshire, England.
RP Perkins, MR (reprint author), Univ Sheffield, Dept Human Commun Sci, 362 Mushroom Lane, Sheffield S10 2TS, S Yorkshire, England.
EM m.perkins@sheffield.ac.uk
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NR 36
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 0269-9206
EI 1464-5076
J9 CLIN LINGUIST PHONET
JI Clin. Linguist. Phon.
PD JUL-AUG
PY 2014
VL 28
IS 7-8
BP 590
EP 601
DI 10.3109/02699206.2014.926995
PG 12
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AL9UJ
UT WOS:000339487100011
PM 25000380
ER
PT J
AU Weiss, AL
Rohland, P
AF Weiss, Amy L.
Rohland, Pamela
TI "Measuring up" to ethical standards in service delivery to college
students on the Autism Spectrum: A practical application of Powell's
model for ethical practices in clinical phonetics and linguistics
SO CLINICAL LINGUISTICS & PHONETICS
LA English
DT Article
DE Autism; ethical standards; intervention
AB This paper examined an interdisciplinary college-based support programme, the Communication Coaching Program (CCP), designed for students diagnosed on the autism spectrum in light of six ethical constructs described by Powell. Collecting data to monitor the successes and ongoing needs of individual participants in the programme is of vital importance, of course, but only addresses a portion of the efficacy question. In addition, the authors, who co-direct the programme and represent different professional expertise and perspectives, recognize the importance of determining whether their evolving intervention model has also been successful in meeting the ethical standards of their respective professions. Careful review of the 4 years of the CCP's operation in terms of ethical constructs has yielded evidence that the CCP, although based on sound principles of theory and scholarship, should be further individualized to meet the particular needs of participants diagnosed with deficits in social communication and executive functioning skills.
C1 [Weiss, Amy L.] Univ Rhode Isl, Dept Commun Disorders, Kingston, RI 02881 USA.
[Rohland, Pamela] Univ Rhode Isl, Off Student Life, Disabil Serv Students, Kingston, RI 02881 USA.
RP Weiss, AL (reprint author), Univ Rhode Isl, Dept Commun Disorders, Kingston, RI 02881 USA.
EM weissa@mail.uri.edu
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AHEAD-Association of Higher Education and Disability, 2004, COD ETH
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
American Speech-Language-Hearing Association, 2010, COD ETH ETH
American Speech-Language-Hearing Association, 2006, ROL RESP SPEECH LANG
Brown J., 2009, STUDENTS ASPERGER SY
Council for Clinical Certification in Audiology and Speech-Language Pathology of the American Speech-Language-Hearing Association, 2012, 2014 STAND CERT CLIN
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NR 14
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 0269-9206
EI 1464-5076
J9 CLIN LINGUIST PHONET
JI Clin. Linguist. Phon.
PD JUL-AUG
PY 2014
VL 28
IS 7-8
BP 627
EP 638
DI 10.3109/02699206.2014.927002
PG 12
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AL9UJ
UT WOS:000339487100014
PM 25000383
ER
PT J
AU Baxter, P
AF Baxter, Peter
TI Valproate and folic acid in pregnancy: associations with autism
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Editorial Material
ID SPECTRUM DISORDERS; CHILDHOOD AUTISM; RISK
CR Christensen J, 2013, JAMA-J AM MED ASSOC, V309, P1696, DOI 10.1001/jama.2013.2270
Schmidt RJ, 2012, AM J CLIN NUTR, V96, P80, DOI 10.3945/ajcn.110.004416
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NR 3
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0012-1622
EI 1469-8749
J9 DEV MED CHILD NEUROL
JI Dev. Med. Child Neurol.
PD JUL
PY 2014
VL 56
IS 7
BP 604
EP 604
DI 10.1111/dmcn.12498
PG 1
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AL9UT
UT WOS:000339488500001
PM 24924417
ER
PT J
AU Sahun, I
Marechal, D
Pereira, PL
Nalesso, V
Gruart, A
Garcia, JMD
Antonarakis, SE
Dierssen, M
Herault, Y
AF Sahun, Ignasi
Marechal, Damien
Pereira, Patricia Lopes
Nalesso, Valerie
Gruart, Agnes
Delgado Garcia, Jose Maria
Antonarakis, Stylianos E.
Dierssen, Mara
Herault, Yann
TI Cognition and Hippocampal Plasticity in the Mouse Is Altered by Monosomy
of a Genomic Region Implicated in Down Syndrome
SO GENETICS
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; COPY-NUMBER VARIATION; LONG-TERM DEPRESSION;
RARE DE-NOVO; FUNCTIONAL IMPACT; MICE; GENE; BEHAVIOR; DELPHILIN;
REVEALS
AB Down syndrome (DS) is due to increased copy number of human chromosome 21. The contribution of different genetic regions has been tested using mouse models. As shown previously, the Abcg1-U2af1 genetic region contributes to cognitive defects in working and short-term recognition memory in Down syndrome mouse models. Here we analyzed the impact of monosomy of the same genetic interval, using a new mouse model, named Ms2Yah. We used several cognitive paradigms and did not detect defects in the object recognition or the Morris water maze tests. However, surprisingly, Ms2Yah mice displayed increased associative memory in a pure contextual fear-conditioning test and decreased social novelty interaction along with a larger long-term potentiation recorded in the CA1 area following stimulation of Schaffer collaterals. Whole-genome expression studies carried out on hippocampus showed that the transcription of only a small number of genes is affected, mainly from the genetic interval (Cbs, Rsph1, Wdr4), with a few additional ones, including the postsynaptic Gabrr2, Gabbr1, Grid2p, Park2, and Dlg1 and the components of the Ubiquitin-mediated proteolysis (Anapc1, Rnf7, Huwe1, Park2). The Abcgl-U2af1 region is undeniably encompassing dosage-sensitive genes or elements whose change in copy number directly affects learning and memory, synaptic function, and autistic related behavior.
C1 [Sahun, Ignasi; Dierssen, Mara] Univ Pompeu Fabra, Ctr Genom Regulat, Syst Biol Programme, E-08003 Barcelona, Spain.
[Sahun, Ignasi; Dierssen, Mara] Ctr Invest Biomed Red Enfermedades Raras, E-08003 Barcelona, Spain.
[Sahun, Ignasi; Marechal, Damien; Pereira, Patricia Lopes; Nalesso, Valerie; Herault, Yann] Inst Genet & Biol Mol & Cellulaire, F-67404 Illkirch Graffenstaden, France.
[Marechal, Damien; Nalesso, Valerie; Herault, Yann] Ctr Natl Rech Sci, UMR7104, F-67404 Illkirch Graffenstaden, France.
[Marechal, Damien; Nalesso, Valerie; Herault, Yann] Inst Natl Sante & Rech Med, U964, Illkirch Graffenstaden, France.
[Marechal, Damien; Nalesso, Valerie; Herault, Yann] Univ Strasbourg, F-67400 Illkirch Graffenstaden, France.
[Gruart, Agnes; Delgado Garcia, Jose Maria] Univ Pablo Olavide, Div Neurociencias, Seville 41013, Spain.
[Antonarakis, Stylianos E.] Univ Geneva, Sch Med, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland.
[Herault, Yann] Groupement lnteret Econ Ctr Europeen Rech Biol Mo, PHENOMIN, Inst Clin Souris, F-67404 Illkirch Graffenstaden, France.
RP Herault, Y (reprint author), Ctr Natl Rech Sci, Inst Genet & Biol Mol & Cellulaire, 1 Rue Laurent Fries,BP 10142,Parc Innovat, F-67404 Illkirch Graffenstaden, France.
EM herault@igbmc.fr
RI Antonarakis, Stylianos/N-8866-2014
OI Antonarakis, Stylianos/0000-0001-8907-5823
FU French CNRS; French Institut National de la Sante et de la Recherche
Medicale; University of Strasbourg; "Centre Europeen de Recherche en
Biomedecine"; "Fondation Jerome Lejeune"; Koplowitz Foundation; Fragile
X Research Foundation (FRAXA); Association Francaise contre les
Myopathies (AFM) Foundation; Spanish Ministry of Economy [SAF2010-16427,
SAF2007-31093-E, FIS-PI 082038]; Marato TV3; European Commission
(AnEUploidy project) [LSHG-CT-2006-037627]; DURSI [Grups consolidats 09
2009SGR1313]
FX We thank members of the research group, of the Institut de Genetique de
Biologie Moleculaire et Cellulaire (IGBM), of the Institut Clinique de
la Souris (ICS), and of the AnEUploidy consortium for their helpful
comments (www.aneuploidy.org). We are grateful to the animal caretakers
of the Centre National de la Recherche Scientifique (CNRS) UPS44 TAAM
unit and of the ICS. The funders had no role in study design, data
collection and analysis, decision to publish, or preparation of the
manuscript. This project was supported by the French CNRS; the French
Institut National de la Sante et de la Recherche Medicale; the
University of Strasbourg and the "Centre Europeen de Recherche en
Biomedecine"; the "Fondation Jerome Lejeune"; Koplowitz, Fragile X
Research Foundation (FRAXA), and Association Francaise contre les
Myopathies (AFM) Foundations; the Spanish Ministry of Economy
(SAF2010-16427, SAF2007-31093-E, and FIS-PI 082038); Marato TV3; and the
European Commission (AnEUploidy project LSHG-CT-2006-037627 to Y.H. and
M.D.) The laboratory of M.D. is supported by DURSI (Grups consolidats 09
2009SGR1313).
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NR 58
TC 1
Z9 1
PU GENETICS SOCIETY AMERICA
PI BETHESDA
PA 9650 ROCKVILLE AVE, BETHESDA, MD 20814 USA
SN 0016-6731
EI 1943-2631
J9 GENETICS
JI Genetics
PD JUL
PY 2014
VL 197
IS 3
BP 899
EP 912
DI 10.1534/genetics.114.165241
PG 14
WC Genetics & Heredity
SC Genetics & Heredity
GA AL8MA
UT WOS:000339391900009
PM 24752061
ER
PT J
AU Halepoto, DM
AL-Ayadhi, LY
Salam, AAA
AF Halepoto, Dost Muhammad
AL-Ayadhi, Laila Y.
Salam, Ahmed Attia A.
TI Therapeutic Use of Hyperbaric Oxygen Therapy for Children with Autism
Spectrum Disorder
SO JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN
LA English
DT Review
DE Autism spectrum disorder; Hyperbaric oxygen therapy
ID REGRESSIVE AUTISM; INFANTILE-AUTISM; BRAIN; DISEASE; NEUROINFLAMMATION;
INFLAMMATION; PERFUSION; IMPROVE; TRAUMA; MODEL
AB Autism spectrum disorder (ASD) is neurodevelopment disorder, characterized by impairment in social interaction, verbal and non-verbal communication and the presence of restricted and repetitive stereotyped behaviors. The condition manifests within the first 3 years of life and persists till adulthood. At present, the etiology of ASD is largely unknown, but genetic, environmental, immunological, and neurological factors are thought to play a role in the development of ASD. The prevalence of ASD has increased dramatically in the past few decades. According to current estimates from the United States Centers for Disease Control-and Prevention (CDC) as many as 1 in 91 children have ASD in USA. Studies from the Middle East on this topic are limited. Autism in Saudi Arabia is slightly higher than reported in the developed countries. Hyperbaric oxygen therapy (HBOT) has been growing in popularity for the treatment of ASD over recent years. However, few studies of its effectiveness have been reported. This article reviews important publications regarding the physiologic and clinical influence of HBO on ASD. Several case series and randomized trials have all proposed that low pressure/low oxygen concentration hyperbaric treatment can improve the clinical manifestations of autism.
C1 [Halepoto, Dost Muhammad; AL-Ayadhi, Laila Y.; Salam, Ahmed Attia A.] King Saud Univ, Autism Res & Treatment Ctr, Riyadh 11461, Saudi Arabia.
RP Halepoto, DM (reprint author), King Saud Univ, Autism Res & Treatment Ctr, Shaik AL Amodi Autism Res Chair, Dept Physiol,Fac Med, Riyadh 11461, Saudi Arabia.
EM dr_m_halepota@yahoo.com
FU Autism Research and Treatment Centre, Al-Amodi Autism Research Chair,
King Abdul Aziz City for Science and Technology (KACST), at King Saud
University; Health Research and Studies program at (NPST), at King Saud
University
FX We thank Autism Research and Treatment Centre, Al-Amodi Autism Research
Chair, King Abdul Aziz City for Science and Technology (KACST), and
Health Research and Studies program at (NPST), at King Saud University
for financial support.
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NR 51
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 JUL
PY 2014
VL 24
IS 7
BP 508
EP 514
PG 7
WC Medicine, General & Internal
SC General & Internal Medicine
GA AM0MS
UT WOS:000339540300014
PM 25052976
ER
PT J
AU Kato, F
Iwanaga, R
Chono, M
Fujihara, S
Tokunaga, A
Murata, J
Tanaka, K
Nakane, H
Tanaka, G
AF Kato, Fumi
Iwanaga, Ryoichiro
Chono, Mami
Fujihara, Saori
Tokunaga, Akiko
Murata, Jun
Tanaka, Koji
Nakane, Hideyuki
Tanaka, Goro
TI Relationship between Sympathetic Skin Responses and Auditory
Hypersensitivity to Different Auditory Stimuli
SO JOURNAL OF PHYSICAL THERAPY SCIENCE
LA English
DT Article
DE Auditory hypersensitivity; Sympathetic nervous system; Auditory stimuli
ID MENTAL SWEATING RESPONSE; AUTISTIC SPECTRUM; SENSORY PROFILE; CHILDREN;
ABNORMALITIES; DISORDER; HUMANS
AB [Purpose] Auditory hypersensitivity has been widely reported in patients with autism spectrum disorders. However, the neurological background of auditory hypersensitivity is currently not clear. The present study examined the relationship between sympathetic nervous system responses and auditory hypersensitivity induced by different types of auditory stimuli. [Methods] We exposed 20 healthy young adults to six different types of auditory stimuli. The amounts of palmar sweating resulting from the auditory stimuli were compared between groups with (hypersensitive) and without (non-hypersensitive) auditory hypersensitivity. [Results] Although no group x type of stimulus x first stimulus interaction was observed for the extent of reaction, significant type of stimulus x first stimulus interaction was noted for the extent of reaction. For an 80 dB-6,000 Hz stimulus, the trends for palmar sweating differed between the groups. For the first stimulus, the variance became larger in the hypersensitive group than in the non-hypersensitive group. [Conclusion] Subjects who regularly felt excessive reactions to auditory stimuli tended to have excessive sympathetic responses to repeated loud noises compared with subjects who did not feel excessive reactions. People with auditory hypersensitivity may be classified into several subtypes depending on their reaction patterns to auditory stimuli.
C1 [Kato, Fumi; Iwanaga, Ryoichiro; Tokunaga, Akiko; Murata, Jun; Tanaka, Koji; Nakane, Hideyuki; Tanaka, Goro] Nagasaki Univ, Grad Sch Biomed Sci, Dept Psychiat Rehabil Sci, Nagasaki 8528520, Japan.
[Chono, Mami] Hirado City Hlth & Welf Ctr Children Disabil, Hirado, Japan.
[Fujihara, Saori] NPO Peaacas, Gifu, Japan.
RP Kato, F (reprint author), Nagasaki Univ, Grad Sch Biomed Sci, Dept Psychiat Rehabil Sci, 1-7-1 Sakamoto, Nagasaki 8528520, Japan.
EM fumik_de@hotmail.com
CR Ashburner J, 2008, AM J OCCUP THER, V62, P564
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NR 19
TC 0
Z9 0
PU SOC PHYSICAL THERAPY SCIENCE
PI TOKYO
PA C/O PUBLICATION CENTER, 1-24-12 SUGAMO, TOSHIMA-KU, TOKYO, 170-0002,
JAPAN
SN 0915-5287
EI 2187-5626
J9 J PHYS THER SCI
JI J. Phys. Ther. Sci.
PD JUL
PY 2014
VL 26
IS 7
BP 1087
EP 1091
PG 5
WC Rehabilitation
SC Rehabilitation
GA AM1RU
UT WOS:000339626700031
PM 25140103
ER
PT J
AU Koelkebeck, K
Riedel, A
Ohrmann, P
Biscaldi, M
van Elst, LT
AF Koelkebeck, K.
Riedel, A.
Ohrmann, P.
Biscaldi, M.
van Elst, L. Tebartz
TI High-functioning autism spectrum disorders in adulthood
SO NERVENARZT
LA German
DT Article
DE Autism spectrum disorders; Adults; Diagnostic procedures; Therapy;
Differential diagnosis
ID CHILDREN; BRAIN
AB The prevalence of autism spectrum disorders in the general population is approximately 1 %. Some individuals with high-functioning autism graduate from regular schools without autism having been diagnosed and problems only occur when the demands for social competence increase. Then patients often present with secondary psychiatric symptoms, such as depression, anxiety or interpersonal problems. At this time, typical autistic features, such as social interaction deficits, restricted interests and stereotypic behavior can be camouflaged by high compensatory skills, particularly in highly intelligent patients. Therefore, missed or wrong diagnoses are frequent. Interviews, questionnaires and neuropsychological tests might be used to support the diagnosis. In cases where there is evidence for a secondary cause of autistic symptoms, somatic disorders should be excluded. Pharmacological treatment should be symptom-oriented. Individualized psychotherapeutic approaches are becoming increasingly more available; however, pragmatic solutions often need to be deployed.
C1 [Koelkebeck, K.; Ohrmann, P.] Univ Klinikum Munster, Klin Psychiat & Psychotherapie, D-48149 Munster, Germany.
[Riedel, A.; van Elst, L. Tebartz] Univ Freiburg Klinikum, Klin Psychiat & Psychotherapie, Freiburg, Germany.
[Biscaldi, M.] Univ Freiburg Klinikum, Klin Psychiat Psychotherapie & Psychosomat Kindes, Freiburg, Germany.
RP Koelkebeck, K (reprint author), Univ Klinikum Munster, Klin Psychiat & Psychotherapie, Albert Schweitzer Campus 1,Gebaude A9, D-48149 Munster, Germany.
EM katja.koelkebeck@ukmuenster.de
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NR 41
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0028-2804
EI 1433-0407
J9 NERVENARZT
JI Nervenarzt
PD JUL
PY 2014
VL 85
IS 7
BP 891
EP 900
DI 10.1007/s00115-014-4050-6
PG 10
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AL7TJ
UT WOS:000339338100016
PM 24969950
ER
PT J
AU Swettenham, J
Remington, A
Murphy, P
Feuerstein, M
Grim, K
Lavie, N
AF Swettenham, John
Remington, Anna
Murphy, Patrick
Feuerstein, Maike
Grim, Kelly
Lavie, Nilli
TI Seeing the Unseen: Autism Involves Reduced Susceptibility to
Inattentional Blindness
SO NEUROPSYCHOLOGY
LA English
DT Article
DE autism spectrum disorder; inattentional blindness; attention; perceptual
load; development
ID SUPERIOR VISUAL-SEARCH; SELECTIVE ATTENTION; PERCEPTUAL LOAD; SPECTRUM
DISORDER; COGNITIVE CONTROL; CHILDREN; TASK; CORTEX; INDIVIDUALS;
RESPONSES
AB Objective: Attention research in individuals with autism spectrum disorder (ASD) has produced conflicting results. Some findings demonstrate greater distractibility while others suggest superior focused attention. Applying Lavie's load theory of attention to account for this discrepancy led us to hypothesize increased perceptual capacity in ASD. Preliminary support for our hypothesis has so far been found for adults with ASD with reaction time (RT) and signal detection sensitivity measures. Here we test the novel prediction we derived from this hypothesis that children with ASD should have lower rates of inattentional blindness than controls. Method: Twenty-four children with ASD (mean age = 10 years 10 months) and 39 typically developing children (age and IQ matched) took part in the study. We assessed the effects of perceptual load on the rates of inattentional blindness in each group. Participants performing a line discrimination task in either a high load or low load condition were presented with an unexpected extra stimulus on a critical trial. Performance on the line judgment task and rates of detection and stimulus identification were recorded. Results: Overall rates of detection and identification were higher in the ASD group than in the controls. Moreover, whereas both detection and identification rates were significantly lower in the high (compared with low) load conditions for the controls, these were unaffected by load in the ASD group. Conclusion: Reduced inattentional blindness rates under load in ASD suggests higher perceptual capacity is a core feature, present from childhood and leading to superior performance in various measures of perception and attention.
C1 [Swettenham, John; Murphy, Patrick; Feuerstein, Maike; Grim, Kelly; Lavie, Nilli] UCL, London WC1N 1PF, England.
[Remington, Anna; Murphy, Patrick; Feuerstein, Maike; Grim, Kelly; Lavie, Nilli] UCL, Inst Cognit Neurosci, London WC1N 1PF, England.
[Remington, Anna] Univ Oxford, Dept Expt Psychol, Oxford OX1 2JD, England.
RP Swettenham, J (reprint author), UCL, Chandler House,2 Wakefield St, London WC1N 1PF, England.
EM j.swettenham@ucl.ac.uk
FU Department of Developmental Science; Scott Family Junior Research
Fellowship
FX We thank Dr Eleni Matechou for her advice regarding statistical
analyses. Preparation of this article was supported by the Department of
Developmental Science (JS) and the Scott Family Junior Research
Fellowship (AR). We gratefully acknowledge the efforts of staff and
pupils at schools in London who participated in the research, the
National Autistic Society (United Kingdom) and the charity Resources for
Autism.
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NR 49
TC 0
Z9 0
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0894-4105
EI 1931-1559
J9 NEUROPSYCHOLOGY
JI Neuropsychology
PD JUL
PY 2014
VL 28
IS 4
BP 563
EP 570
DI 10.1037/neu0000042
PG 8
WC Psychology, Clinical; Neurosciences; Psychology
SC Psychology; Neurosciences & Neurology
GA AL8OF
UT WOS:000339398000009
PM 24417193
ER
PT J
AU Gumpricht, E
Rockway, S
AF Gumpricht, Eric
Rockway, Susie
TI Can omega-3 fatty acids and tocotrienol-rich vitamin E reduce symptoms
of neurodevelopmental disorders?
SO NUTRITION
LA English
DT Review
DE omega-3 fatty acids; Vitamin E; Tocotrienols; Autism; Apraxia;
Attention-deficit hyperactivity disorder; Neurodevelopmental disorders;
Children
ID POLYUNSATURATED FATTY-ACIDS; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
DEFICIT HYPERACTIVITY DISORDER; INCREASED LIPID-PEROXIDATION; AUTISM
SPECTRUM DISORDERS; ELEVATED SERUM-LEVELS; E ALPHA-TOCOTRIENOL;
OXIDATIVE STRESS; E SUPPLEMENTATION; DOUBLE-BLIND
AB The incidence of childhood neurodevelopmental disorders, which include autism, attention-deficit hyperactivity disorders, and apraxia, are increasing worldwide and have a profound effect on the behaviors, cognitive skills, mood, and self-esteem of these children. Although the etiologies of these disorders are unclear, they often accompany genetic and biochemical abnormalities resulting in cognitive and communication difficulties. Because cognitive and neural development require essential fatty acids (particularly long-chain omega-3 fatty acids often lacking in mother's and children's diets) during critical growth periods, the potential behavior-modifying effects of these fatty acids as "brain nutrients" has attracted considerable attention. Additionally, there is compelling evidence for increased oxidative stress, altered antioxidant defenses, and neuroinflammation in these children. The purpose of this review is to provide a scientific rationale based on cellular, experimental animal model, observational, and clinical intervention studies for incorporating the combination of omega-3 fatty acids and tocotrienol-rich vitamin E as complementary nutritional therapies in children with neurodevelopmental disorders. Should this nutritional combination correct key clinical or biochemical outcomes and/or improve behavioral patterns, it would provide a safe, complementary option for these children. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Gumpricht, Eric] Isagenix Int LLC, Chandler, AZ 85286 USA.
RP Gumpricht, E (reprint author), Isagenix Int LLC, Chandler, AZ 85286 USA.
EM Eric.gumpricht@isagenixcorp.com
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NR 78
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0899-9007
EI 1873-1244
J9 NUTRITION
JI Nutrition
PD JUL-AUG
PY 2014
VL 30
IS 7-8
BP 733
EP 738
DI 10.1016/j.nut.2013.11.001
PG 6
WC Nutrition & Dietetics
SC Nutrition & Dietetics
GA AL7IB
UT WOS:000339306300001
PM 24631384
ER
PT J
AU Crepel, A
De Wolf, V
Brison, N
Ceulemans, B
Walleghem, D
Peuteman, G
Lambrechts, D
Steyaert, J
Noens, I
Devriendt, K
Peeters, H
AF Crepel, An
De Wolf, Veerle
Brison, Nathalie
Ceulemans, Berten
Walleghem, Didier
Peuteman, Gilian
Lambrechts, Diether
Steyaert, Jean
Noens, Ilse
Devriendt, Koen
Peeters, Hilde
TI Association of CDH11 With Non-Syndromic ASD
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
LA English
DT Article
DE cadherin; autism; chromosomal rearrangement; de novo
ID AUTISM SPECTRUM DISORDERS; CRYPTIC GENOMIC IMBALANCES; COPY-NUMBER
VARIATION; DE-NOVO; CHROMOSOMAL REARRANGEMENTS; STRUCTURAL VARIATION;
ARRAY CGH; TRANSLOCATIONS; COMMON; CADHERINS
AB We report a sporadic patient with Autism Spectrum Disorder (ASD), mild intellectual disability and attention deficit hyperactivity disorder (ADHD) with a de novo partial deletion of CADHERIN 11 (CDH11). The deletion is associated with one of the breakpoints of a de novo complex chromosomal rearrangement 46, XY,t(3;16;5)(q29;q22;q15)inv4(p14;q21) ins(4;5)(q21;q14.3q15). Cadherins are cell adhesion molecules involved in synaptic plasticity. Since genetic evidence points towards a role for cadherins in ASD, we studied the possible contribution of CDH11 to ASD. A case-control association study for 14 SNP variants in 519 ASD cases and 1,192 controls showed significant overrepresentation of rs7187376C/C genotypes in the patient group [P = 0.0049 (Chi-square = 7.90 1 df) and O.R. 3.88 C.I. = 1.403-10.733]. There was no association for C/T versus T/T [P = 0.6772 (Chi-square = 0.17 1 df)] nor was there association at the allelic level [P = 0.4373 (Chi-square = 0.6 1 df)]. In addition to the association of common variants in CDH11 with ASD, we studied the possible contribution of rare variants by sequencing CDH11 in 247 patients, and found three novel variants in the coding region of CDH1, of which two variants were unlikely to be causal. Targeted CNV screening in these 247 patients did not reveal copy number variation in CDH11. In conclusion, the data provide evidence for the involvement of CDH11 in ASD which is consistent with the association of other cadherins with ASD and neuropsychiatric diseases. (C) 2014 Wiley Periodicals, Inc.
C1 [Crepel, An; De Wolf, Veerle; Brison, Nathalie; Devriendt, Koen; Peeters, Hilde] Katholieke Univ Leuven, Univ Hosp Leuven, Ctr Human Genet, Leuven, Belgium.
[Crepel, An; De Wolf, Veerle; Brison, Nathalie; Steyaert, Jean; Noens, Ilse; Devriendt, Koen; Peeters, Hilde] Leuven Autism Res LAuRes, Leuven, Belgium.
[Ceulemans, Berten] Univ Antwerp, Antwerp Univ Hosp UZA, Dept Neurol Pediat Neurol, Edegem, Belgium.
[Walleghem, Didier] Univ Child & Adolescent Psychiat, Antwerp Hosp Network ZNA, Antwerp, Belgium.
[Peuteman, Gilian; Lambrechts, Diether] VIB, Vesalius Res Ctr, Leuven, Belgium.
[Peuteman, Gilian; Lambrechts, Diether] Univ Leuven, Dept Oncol, Lab Translat Genet, Leuven, Belgium.
[Steyaert, Jean] Katholieke Univ Leuven, Dept Child & Adolescent Psychiat, Leuven, Belgium.
[Steyaert, Jean] Maastricht Univ, Acad Hosp Maastricht, Dept Clin Genet, Maastricht, Netherlands.
[Steyaert, Jean] Maastricht Univ, Res Inst Growth & Dev GROW, Maastricht, Netherlands.
[Noens, Ilse] Univ Leuven, Parenting & Special Educ Res Unit, Leuven, Belgium.
[Noens, Ilse] Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
RP Peeters, H (reprint author), Univ Leuven, Ctr Human Genet, Herestr 49, B-3000 Leuven, Belgium.
EM hilde.peeters@med.kuleuven.be
RI Steyaert, Jean/B-5326-2015
OI Steyaert, Jean/0000-0003-2512-4694
FU Research Actions KULeuven [GOA/12/015]; Belgian Science Policy Office
Interuniversity Attraction Poles (BELSPO-IAP) IAP [P7/43-BeMGI];
Clinical Research Foundation of UZLeuven
FX Grant sponsor: Research Actions KULeuven GOA/12/015; Grant sponsor:
Belgian Science Policy Office Interuniversity Attraction Poles
(BELSPO-IAP) IAP; Grant number: P7/43-BeMGI. K.D.; Grant sponsor:
Clinical Research Foundation of UZLeuven.
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NR 46
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 JUL
PY 2014
VL 165
IS 5
BP 391
EP 398
DI 10.1002/ajmg.b.32243
PG 8
WC Genetics & Heredity; Psychiatry
SC Genetics & Heredity; Psychiatry
GA AL4IU
UT WOS:000339097200001
PM 24839052
ER
PT J
AU Pineda, M
AF Pineda, M.
TI Autism spectrum disorders
SO ANALES DE PEDIATRIA
LA Spanish
DT Editorial Material
C1 Fdn Hosp St Joan de Deu, Barcelona, Spain.
RP Pineda, M (reprint author), Fdn Hosp St Joan de Deu, Barcelona, Spain.
EM pineda@hsjdbcn.org
CR Primo PG, 2014, AN PEDIATR, V80, P285, DOI 10.1016/j.anpedi.2013.06.030
NR 1
TC 0
Z9 0
PU EDICIONES DOYMA S A
PI BARCELONA
PA TRAV DE GRACIA 17-21, 08021 BARCELONA, SPAIN
SN 1695-4033
EI 1696-4608
J9 AN PEDIATR
JI An. Pediatr.
PD JUL
PY 2014
VL 81
IS 1
BP 1
EP 2
DI 10.1016/j.anpedi.2014.04.018
PG 2
WC Pediatrics
SC Pediatrics
GA AL1UK
UT WOS:000338911600001
PM 24893757
ER
PT J
AU Cozzolino, R
De Magistris, L
Saggese, P
Stocchero, M
Martignetti, A
Di Stasio, M
Malorni, A
Marotta, R
Boscaino, F
Malorni, L
AF Cozzolino, Rosaria
De Magistris, Laura
Saggese, Paola
Stocchero, Matteo
Martignetti, Antonella
Di Stasio, Michele
Malorni, Antonio
Marotta, Rosa
Boscaino, Floriana
Malorni, Livia
TI Use of solid-phase microextraction coupled to gas chromatography-mass
spectrometry for determination of urinary volatile organic compounds in
autistic children compared with healthy controls
SO ANALYTICAL AND BIOANALYTICAL CHEMISTRY
LA English
DT Article
DE Autism; Urine samples; Solid-phase microextraction; Volatile organic
compounds; Orthogonal projections to latent structures discriminant
analysis
ID SPECTRUM DISORDERS; CANCER BIOMARKERS; OXIDATIVE STRESS; METABOLOMICS;
METABONOMICS; DIAGNOSIS; TRIMETHYLAMINE; IDENTIFICATION; CHEMOMETRICS;
SEROTONIN
AB Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders which have a severe life-long effect on behavior and social functioning, and which are associated with metabolic abnormalities. Their diagnosis is on the basis of behavioral and developmental signs usually detected before three years of age, and there is no reliable biological marker. The objective of this study was to establish the volatile urinary metabolomic profiles of 24 autistic children and 21 healthy children (control group) to investigate volatile organic compounds (VOCs) as potential biomarkers for ASDs. Solid-phase microextraction (SPME) using DVB/CAR/PDMS sorbent coupled with gas chromatography-mass spectrometry was used to obtain the metabolomic information patterns. Urine samples were analyzed under both acid and alkaline pH, to profile a range of urinary components with different physicochemical properties. Multivariate statistics techniques were applied to bioanalytical data to visualize clusters of cases and to detect the VOCs able to differentiate autistic patients from healthy children. In particular, orthogonal projections to latent structures discriminant analysis (OPLS-DA) achieved very good separation between autistic and control groups under both acidic and alkaline pH, identifying discriminating metabolites. Among these, 3-methyl-cyclopentanone, 3-methyl-butanal, 2-methyl-butanal, and hexane under acid conditions, and 2-methyl-pyrazine, 2,3-dimethyl-pyrazine, and isoxazolo under alkaline pH had statistically higher levels in urine samples from autistic children than from the control group. Further investigation with a higher number of patients should be performed to outline the metabolic origins of these variables, define a possible association with ASDs, and verify the usefulness of these variables for early-stage diagnosis.
C1 [Cozzolino, Rosaria; Saggese, Paola; Martignetti, Antonella; Di Stasio, Michele; Boscaino, Floriana] CNR, Inst Food Sci, I-83100 Avellino, Italy.
[De Magistris, Laura] Univ Naples 2, CIRANAD, I-80131 Naples, Italy.
[Stocchero, Matteo] S IN Soluzioni Informat Srl, I-36100 Vicenza, Italy.
[Malorni, Antonio] Univ Naples 2, Dept Environm Biol & Pharmaceut Sci & Technol, I-81100 Caserta, Italy.
[Marotta, Rosa] Magna Graecia Univ Catanzaro, Dept Psychiat, I-88100 Catanzaro, Italy.
[Malorni, Livia] Univ Naples 2, Dept Expt Med, Sect Hyg Occupat Med & Forens Med,Sch Med, I-80138 Naples, Italy.
RP Cozzolino, R (reprint author), CNR, Inst Food Sci, Via Roma 64, I-83100 Avellino, Italy.
EM rcozzolino@isa.cnr.it
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NR 62
TC 0
Z9 0
PU SPRINGER HEIDELBERG
PI HEIDELBERG
PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY
SN 1618-2642
EI 1618-2650
J9 ANAL BIOANAL CHEM
JI Anal. Bioanal. Chem.
PD JUL
PY 2014
VL 406
IS 19
BP 4649
EP 4662
DI 10.1007/s00216-014-7855-z
PG 14
WC Biochemical Research Methods; Chemistry, Analytical
SC Biochemistry & Molecular Biology; Chemistry
GA AL5EE
UT WOS:000339155500009
PM 24828982
ER
PT J
AU Liu, YZ
Li, BS
Tan, RJ
Zhu, XL
Wang, YD
AF Liu, Yongzhuang
Li, Bingshan
Tan, Renjie
Zhu, Xiaolin
Wang, Yadong
TI A gradient-boosting approach for filtering de novo mutations in
parent-offspring trios
SO BIOINFORMATICS
LA English
DT Article
ID GENERATION SEQUENCING DATA; INTELLECTUAL DISABILITY; SOMATIC MUTATION;
DISCOVERY; AUTISM; SCHIZOPHRENIA; IDENTIFICATION; PATTERNS; MACHINE;
RATES
AB Motivation: Whole-genome and -exome sequencing on parent-offspring trios is a powerful approach to identifying disease-associated genes by detecting de novo mutations in patients. Accurate detection of de novo mutations from sequencing data is a critical step in triobased genetic studies. Existing bioinformatic approaches usually yield high error rates due to sequencing artifacts and alignment issues, which may either miss true de novo mutations or call too many false ones, making downstream validation and analysis difficult. In particular, current approaches have much worse specificity than sensitivity, and developing effective filters to discriminate genuine from spurious de novo mutations remains an unsolved challenge. Results: In this article, we curated 59 sequence features in whole genome and exome alignment context which are considered to be relevant to discriminating true de novo mutations from artifacts, and then employed a machine-learning approach to classify candidates as true or false de novo mutations. Specifically, we built a classifier, named De Novo Mutation Filter (DNMFilter), using gradient boosting as the classification algorithm. We built the training set using experimentally validated true and false de novo mutations as well as collected false de novo mutations from an in-house large-scale exomesequencing project. We evaluated DNMFilter's theoretical performance and investigated relative importance of different sequence features on the classification accuracy. Finally, we applied DNMFilter on our in-house whole exome trios and one CEU trio from the 1000 Genomes Project and found that DNMFilter could be coupled with commonly used de novo mutation detection approaches as an effective filtering approach to significantly reduce false discovery rate without sacrificing sensitivity. Availability: The software DNMFilter implemented using a combination of Java and R is freely available from the website at http:// humangenome. duke. edu/software.
C1 [Liu, Yongzhuang; Tan, Renjie; Wang, Yadong] Harbin Inst Technol, Sch Comp Sci & Technol, Harbin 150001, Peoples R China.
[Liu, Yongzhuang; Tan, Renjie; Zhu, Xiaolin] Duke Univ, Ctr Human Genome Variat, Durham, NC 27708 USA.
[Li, Bingshan] Vanderbilt Univ, Dept Mol Physiol & Biophys, Ctr Human Genet Res, Nashville, TN 37235 USA.
RP Wang, YD (reprint author), Harbin Inst Technol, Sch Comp Sci & Technol, Harbin 150001, Peoples R China.
FU Epilepsy Phenome/Genome Project NIH [U01-NS053998]; Epi4K Project
1-Epileptic Encephalopathies NIH [U01-NS077364]; Epi4K-Sequencing,
Biostatistics and Bioinformatics Core NIH [U01-NS077303];
Epi4K-Phenotyping and Clinical Informatics Core NIH [U01-NS077276];
Natural Science Foundation of China [61173085, 61102149]; Governmental
scholarship from China Scholarship Council (CSC)
FX The Epilepsy Phenome/Genome Project NIH grant U01-NS053998; Epi4K
Project 1-Epileptic Encephalopathies NIH grant U01-NS077364;
Epi4K-Sequencing, Biostatistics and Bioinformatics Core NIH grant
U01-NS077303; Epi4K-Phenotyping and Clinical Informatics Core NIH grant
U01-NS077276; Natural Science Foundation of China [grant numbers:
61173085, 61102149]; Governmental scholarship from China Scholarship
Council (CSC) (to Y.L. and R.T.).
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NR 31
TC 1
Z9 2
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1367-4803
EI 1460-2059
J9 BIOINFORMATICS
JI Bioinformatics
PD JUL 1
PY 2014
VL 30
IS 13
BP 1830
EP 1836
DI 10.1093/bioinformatics/btu141
PG 7
WC Biochemical Research Methods; Biotechnology & Applied Microbiology;
Computer Science, Interdisciplinary Applications; Mathematical &
Computational Biology; Statistics & Probability
SC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology;
Computer Science; Mathematical & Computational Biology; Mathematics
GA AL4SB
UT WOS:000339121900006
PM 24618463
ER
PT J
AU Tao, YL
Wu, Q
Guo, X
Zhang, ZZ
Shen, YY
Wang, FD
AF Tao, Yunlong
Wu, Qian
Guo, Xin
Zhang, Zhuzhen
Shen, Yuanyuan
Wang, Fudi
TI MBD5 regulates iron metabolism via methylation-independent genomic
targeting of Fth1 through KAT2A in mice
SO BRITISH JOURNAL OF HAEMATOLOGY
LA English
DT Article
DE haemochromatosis; iron overload; epigenetic; histone acetylation; DNA
methylation
ID HISTONE DEACETYLASE COMPLEX; AUTISM SPECTRUM DISORDER; BINDING-PROTEIN
MBD1; H-FERRITIN GENE; TRANSCRIPTIONAL REPRESSION; DEVELOPMENTAL DELAY;
2Q23.1 MICRODELETION; CELLS; MOUSE; HOMEOSTASIS
AB Ferritin plays important roles in iron metabolism and controls iron absorption in the intestine. The ferritin subunits ferritin heavy chain (Fth1) and ferritin light chain (Ftl1) are tightly regulated at both the transcriptional and post-transcriptional levels. However, mechanisms of maintaining stable, basal expression of Fth1 are poorly understood. Here, we show that global deletion of Mbd5 in mice induces an iron overload phenotype. Liver and serum iron levels in Mbd5(-/-) mice were 3.2-fold and 1.5-fold higher respectively, than wild-type littermates; moreover, serum ferritin was increased >5-fold in the Mbd5(-/-) mice. Mbd5 encodes a member of the methyl-CpG binding domain family; however, the precise function of this gene is poorly understood. Here, we found that intestinal Fth1 mRNA levels were decreased in Mbd5(-/-) mice. Loss of Fth1 expression in the intestine could lead to iron over-absorption. Furthermore, deleting Mbd5 specifically in the intestine resulted in a phenotype similar to that of conditional deletion of Fth1 mice. An Fth1 promoter-report luciferase assay indicated that overexpression of Mbd5 enhanced Fth1 transcription in a dose-dependent manner. Histone H4 acetylation of the Fth1 promoter was reduced in the intestine of Mbd5(-/-) mice and further analysis showed that histone acetyltransferase KAT2A was essential for MBD5-induced Fth1 transcription.
C1 [Tao, Yunlong; Wu, Qian; Guo, Xin; Zhang, Zhuzhen; Shen, Yuanyuan] Chinese Acad Sci, Key Lab Nutr & Metab, Shanghai Inst Biol Sci, Inst Nutr Sci,Grad Sch, Shanghai, Peoples R China.
[Tao, Yunlong; Wu, Qian; Guo, Xin; Zhang, Zhuzhen; Wang, Fudi] Zhejiang Univ, Sch Publ Hlth, Dept Nutr, Inst Nutr & Food Safety,Collaborat Innovat Ctr Di, Hangzhou 310058, Zhejiang, Peoples R China.
RP Wang, FD (reprint author), Zhejiang Univ, Sch Publ Hlth, Dept Nutr, 866 Yuhangtang Rd, Hangzhou 310058, Zhejiang, Peoples R China.
EM fwang@zju.edu.cn
FU Ministry of Science and Technology of China [2011CB966200,
2012BAD33B05]; National Natural Science Foundation of China [31030039,
31225013, 31330036]; Distinguished Professorship Programme of Zhejiang
University
FX The authors would like to thank Dr. Guoliang Xu (Institute of
Biochemistry and Cell Biology, SIBS, CAS) for sharing his
Mbd5-/- mice and Mbd5 expression plasmids, Dr. Yoshiaki Tsuji
(North Carolina State University) for providing the Fth1-promoter 4.8 kb
pGL3 plasmids, and Pere Puigserver (Harvard Medical School) for
providing KAT2A expression plasmid. This study was supported by research
grants from the Ministry of Science and Technology of China
(2011CB966200, and 2012BAD33B05) and the National Natural Science
Foundation of China (31030039, 31225013 and 31330036). This study was
also supported by the Distinguished Professorship Programme of Zhejiang
University (to FW).
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NR 49
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0007-1048
EI 1365-2141
J9 BRIT J HAEMATOL
JI Br. J. Haematol.
PD JUL
PY 2014
VL 166
IS 2
BP 279
EP 291
DI 10.1111/bjh.12863
PG 13
WC Hematology
SC Hematology
GA AL7VO
UT WOS:000339344700017
PM 24750026
ER
PT J
AU Hurt, E
Arnold, LE
Lofthouse, N
AF Hurt, Elizabeth
Arnold, L. Eugene
Lofthouse, Nicholas
TI Quantitative EEG Neurofeedback for the Treatment of Pediatric
Attention-Deficit/Hyperactivity Disorder, Autism Spectrum Disorders,
Learning Disorders, and Epilepsy
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Neurofeedback; Neurotherapy; EEG biofeedback; Quantitative EEG; ADHD;
Autism spectrum disorders; Learning disorders; Epilepsy
ID RANDOMIZED CONTROLLED-TRIAL; DISABLED CHILDREN; CLINICAL-TRIAL; ADHD;
BIOFEEDBACK; IMPULSIVITY; METAANALYSIS; POTENTIALS
AB Neurofeedback (NF) using surface electroencephalographic signals has been used to treat various child psychiatric disorders by providing patients with video/audio information about their brain's electrical activity in real-time. Research data are reviewed and clinical recommendations are made regarding NF treatment of youth with attention deficit/hyperactivity disorder, autism, learning disorders, and epilepsy. Most NF studies are limited by methodological issues, such as failure to use or test the validity of a full-blind or sham NF. The safety of NF treatment has not been thoroughly investigated in youth or adults, although clinical experience suggests reasonable safety.
C1 [Hurt, Elizabeth] Wright State Univ, Sch Profess Psychol, Dayton, OH 45435 USA.
[Arnold, L. Eugene] Ohio State Univ, Nisonger Ctr, Dept Psychiat, Columbus, OH 43210 USA.
[Lofthouse, Nicholas] Sch Profess Psychol, Columbus, OH 43235 USA.
RP Hurt, E (reprint author), Wright State Univ, Sch Profess Psychol, 053 Student Union, Dayton, OH 45435 USA.
EM Beth.Hurt@wright.edu
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NR 67
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 1056-4993
EI 1558-0490
J9 CHILD ADOL PSYCH CL
JI Child Adolesc. Psychiatr. N. Am.
PD JUL
PY 2014
VL 23
IS 3
BP 465
EP +
DI 10.1016/j.chc.2014.02.001
PG 23
WC Psychiatry
SC Psychiatry
GA AL8TH
UT WOS:000339411900003
PM 24975622
ER
PT J
AU Yinger, OS
Gooding, L
AF Yinger, Olivia Swedberg
Gooding, Lori
TI Music Therapy and Music Medicine for Children and Adolescents
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Music therapy; Music medicine; Child and adolescent psychiatry; Mental
health; Research
ID GROUP-PSYCHOTHERAPY; SELF-ESTEEM; AUTISM; PROGRAM; SKILLS; BEHAVIOR;
INTERVENTIONS; METAANALYSIS; PREDICTORS; DISORDERS
AB This article summarizes the research on music therapy and music medicine for children and adolescents with diagnoses commonly treated by psychiatrists. Music therapy and music medicine are defined, effects of music on the brain are described, and music therapy research in psychiatric treatment is discussed. Music therapy research with specific child/adolescent populations is summarized, including disorders usually diagnosed in childhood, substance abuse, mood/anxiety disorders, and eating disorders. Clinical implications are listed, including suggestions for health care professionals seeking to use music medicine techniques. Strengths and weaknesses of music therapy treatment are discussed, as well as areas for future research.
C1 [Yinger, Olivia Swedberg; Gooding, Lori] Univ Kentucky, Coll Fine Arts, Sch Mus, Lexington, KY 40506 USA.
RP Yinger, OS (reprint author), Univ Kentucky, Coll Fine Arts, Sch Mus, 105 Fine Arts, Lexington, KY 40506 USA.
EM olivia.yinger@uky.edu
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American Music Therapy Association, 2011, PROF REQ MUS THER
American Music Therapy Association, 2011, WHAT IS MUS THER
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NR 86
TC 0
Z9 0
PU W B SAUNDERS CO-ELSEVIER INC
PI PHILADELPHIA
PA 1600 JOHN F KENNEDY BOULEVARD, STE 1800, PHILADELPHIA, PA 19103-2899 USA
SN 1056-4993
EI 1558-0490
J9 CHILD ADOL PSYCH CL
JI Child Adolesc. Psychiatr. N. Am.
PD JUL
PY 2014
VL 23
IS 3
BP 535
EP +
DI 10.1016/j.chc.2013.03.003
PG 20
WC Psychiatry
SC Psychiatry
GA AL8TH
UT WOS:000339411900005
PM 24975624
ER
PT J
AU Silverman, JL
Crawley, JN
AF Silverman, Jill L.
Crawley, Jacqueline N.
TI The promising trajectory of autism therapeutics discovery
SO DRUG DISCOVERY TODAY
LA English
DT Review
ID FRAGILE-X-SYNDROME; BTBR MOUSE MODEL; PLACEBO-CONTROLLED TRIAL; MGLUR5
ANTAGONIST MPEP; SPECTRUM DISORDERS; TUBEROUS-SCLEROSIS;
SOCIAL-BEHAVIOR; NEURODEVELOPMENTAL DISORDERS; DOUBLE-BLIND; MICE
AB Pharmacological interventions for neurodevelopmental disorders are increasingly tractable. Autism is a neurodevelopmental disorder that affects approximately 1% of the population. Currently, the standard of care is early behavioral therapy. No approved medical treatments for the diagnostic symptoms are available. Strong evidence for genetic causes of autism implicates proteins that mediate synaptic transmission and structure. Mouse models with targeted mutations in these synaptic genes display behavioral symptoms relevant to the social communication abnormalities and repetitive behaviors that define autism spectrum disorder (ASD), along with biological abnormalities in synaptic physiology and morphology. As we discuss here, promising pharmacological targets, emerging from the mouse model studies, are now being pursued in early clinical trials. Thus, a high-prevalence disorder that was previously considered to be medically untreatable is now moving into the therapeutic arena.
C1 [Silverman, Jill L.; Crawley, Jacqueline N.] Univ Calif Davis, MIND Inst, Dept Psychiat & Behav Sci, Sch Med, Sacramento, CA 95817 USA.
RP Silverman, JL (reprint author), Univ Calif Davis, MIND Inst, Dept Psychiat & Behav Sci, Sch Med, Sacramento, CA 95817 USA.
EM jacqueline.crawley@ucdmc.ucdavis.edu
FU Autism Speaks Targeted Award [8703]; MIND Institute, University of
California Davis School of Medicine
FX Supported by Autism Speaks Targeted Award #8703 and the MIND Institute,
University of California Davis School of Medicine.
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NR 60
TC 2
Z9 2
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1359-6446
EI 1878-5832
J9 DRUG DISCOV TODAY
JI Drug Discov. Today
PD JUL
PY 2014
VL 19
IS 7
BP 838
EP 844
DI 10.1016/j.drudis.2013.12.007
PG 7
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AL5BO
UT WOS:000339148700007
PM 24362109
ER
PT J
AU Terzian, ALB
Micale, V
Wotjak, CT
AF Terzian, Ana Luisa B.
Micale, Vincenzo
Wotjak, Carsten T.
TI Cannabinoid receptor type 1 receptors on GABAergic vs. glutamatergic
neurons differentially gate sex-dependent social interest in mice
SO EUROPEAN JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE CB1; depression; GABA; glutamate; sexual interest; social behavior
ID ENDOCANNABINOID SYSTEM; ANXIETY RESPONSES; BIMODAL CONTROL; KNOCKOUT
MICE; ANIMAL-MODELS; CB1; BEHAVIOR; DEPRESSION; FEAR; AROUSAL
AB Abnormalities in social behavior are found in almost all psychiatric disorders, such as anxiety, depression, autism, and schizophrenia. Thus, comprehension of the neurobiological basis of social interaction is important for a better understanding of numerous pathologies and improved treatments. Several findings have suggested that an alteration of cannabinoid receptor type 1 (CB1) receptor function could be involved in the pathophysiology of such disorders. However, the role of CB1 receptors is still unclear, and their localisation on different neuronal subpopulations may produce distinct outcomes. To dissect the role of CB1 receptors in different neuronal populations, we used male knockout mice and their respective control littermates [total deletion (CB1(-/-)); specific deletion on cortical glutamatergic neurons (Glu-CB1(-/-)) or on GABAergic interneurons (GABA-CB1(-/-)), and wild-type (WT) mice treated with the CB1 antagonist/inverse agonist SR141716A (3 mg/kg). Mice were required to perform different social tasks - direct social interaction and social investigation. Direct interaction of two male mice was not modified in any group; however, when they were paired with females, Glu-CB1(-/-) mice showed reduced interaction. Also, exploration of the male stimulus subject in the three-chamber social investigation test was almost unaffected. The situation was completely different when a female was used as the stimulus subject. In this case, Glu-CB1(-/-) mice showed reduced interest in the social stimulus, mimicking the phenotype of CB1(-/-) or WT mice treated with SR141716A. GABA-CB1(-/-) mice showed the opposite phenotype, by spending more time investigating the social stimulus. In conclusion, we provide evidence that CB1 receptors specifically modulate the social investigation of female mice in a neuronal subtype-specific manner.
C1 [Terzian, Ana Luisa B.; Micale, Vincenzo; Wotjak, Carsten T.] Max Planck Inst Psychiat, Res Grp Neural Plast, D-80804 Munich, Germany.
[Terzian, Ana Luisa B.] Univ Munich, Grad Sch Syst Neurosci, Munich, Germany.
[Micale, Vincenzo] Masaryk Univ, Cent European Inst Technol CEITEC, Brno, Czech Republic.
RP Wotjak, CT (reprint author), Max Planck Inst Psychiat, Res Grp Neural Plast, Kraepelinstr 2-10, D-80804 Munich, Germany.
EM wotjak@mpipsykl.mpg.de
FU CNPq [290008/2009-3]; ECNP Research Grant for Young Scientists; project
'CEITEC - Central European Institute of Technology' from the European
Regional Development Fund [CZ.1.05/1.1.00/02.0068]
FX A. L. Terzian is supported by a CNPq scholarship (process
290008/2009-3), and V. Micale was supported by an ECNP Research Grant
for Young Scientists 2010 and by the project 'CEITEC - Central European
Institute of Technology' (CZ.1.05/1.1.00/02.0068) from the European
Regional Development Fund.
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NR 43
TC 0
Z9 0
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 JUL
PY 2014
VL 40
IS 1
BP 2293
EP 2298
DI 10.1111/ejn.12561
PG 6
WC Neurosciences
SC Neurosciences & Neurology
GA AL6QJ
UT WOS:000339257400013
PM 24698342
ER
PT J
AU Houssa, M
Mazzone, S
Nader-Grosbois, N
AF Houssa, M.
Mazzone, S.
Nader-Grosbois, N.
TI Validation of a French version of the Theory of Mind Inventory (ToMI-vf)
SO EUROPEAN REVIEW OF APPLIED PSYCHOLOGY-REVUE EUROPEENNE DE PSYCHOLOGIE
APPLIQUEE
LA French
DT Article
DE ToMI-vf validation; Theory of mind
ID THEORY-OF-MIND; TYPICALLY DEVELOPING-CHILDREN; INTELLECTUAL
DISABILITIES; AUTISM SPECTRUM; FALSE BELIEF; DEVELOPMENTAL
CHARACTERISTICS; PSYCHOMETRIC EVALUATION; SOCIAL-ADJUSTMENT; EMOTION;
KNOWLEDGE
AB Introduction and objective. This article presents the translation method, in French, of the 'Theory of Mind Inventory' questionnaire (ToMI, Hutchins, Prelock, & Bonazinga, 2012) assessing adults' perception about children' abilities in Theory of Mind.
Method. It reports results of three validation studies of the French-version of ToMI (ToMI-vf) filled by parents of preschoolers.
Results. The study 1 (n = 107) shows a very high internal consistency and a structure in three factors. The study 2 (n = 54) confirms criterion-related validity. The study 3 (n = 45) shows a good temporal stability of parental answers.
Conclusion. The three studies indicate that the ToMI-vf has psychometric properties comparable with those reported by authors about the initial ToMI. (C) 2014 Elsevier Masson SAS. All rights reserved.
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RP Houssa, M (reprint author), Catholic Univ Louvain, Inst Rech Sci Psychol, Chaire Baron Frere Orthopedag, 10 Pl Cardinal Mercier, Louvain La Neuve, Belgium.
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Wordreference, 2012, LIGNE
NR 64
TC 0
Z9 0
PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
PI PARIS
PA 23 RUE LINOIS, 75724 PARIS, FRANCE
SN 1162-9088
EI 1365-3121
J9 EUR REV APPL PSYCHOL
JI Eur. Rev. Appl. Psychol.-Rev. Eur. Psychol. Appl.
PD JUL
PY 2014
VL 64
IS 4
BP 169
EP 179
DI 10.1016/j.erap.2014.02.002
PG 11
WC Psychology, Applied
SC Psychology
GA AL5BS
UT WOS:000339149100002
ER
PT J
AU Yangngam, S
Plong-On, O
Sripo, T
Roongpraiwan, R
Hansakunachai, T
Wirojanan, J
Sombuntham, T
Ruangdaraganon, N
Limprasert, P
AF Yangngam, Supaporn
Plong-On, Oradawan
Sripo, Thanya
Roongpraiwan, Rawiwan
Hansakunachai, Tippawan
Wirojanan, Juthamas
Sombuntham, Tasnawat
Ruangdaraganon, Nichara
Limprasert, Pornprot
TI Mutation Screening of the Neurexin 1 Gene in Thai Patients with
Intellectual Disability and Autism Spectrum Disorder
SO GENETIC TESTING AND MOLECULAR BIOMARKERS
LA English
DT Article
ID STRUCTURAL VARIANTS; MENTAL-RETARDATION; INDIVIDUALS; DELETIONS; NRXN1;
ADHESION; NLGN3
AB Aim: Neurexin 1 has two major protein isoforms using alternative promoters, coding for the alpha-neurexin 1 (alpha-NRXN1) and beta-neurexin 1 (beta-NRXN1) genes. This study is to explore the possibility that variants of the NRXN1 gene predispose to intellectual disability (ID) and autism spectrum disorder (ASD). Methods: The coding regions in 24 exons and exon-intron boundaries of the NRXN1 gene were investigated in 115 Thai patients with ID and ASD by direct DNA sequencing. Results: Nine novel variants of the NRXN1 gene were identified. Four novel variants were found in the beta-NRXN1 gene, one variant of six GGC repeats in exon 1, and three variants at the 5'UTR. Five novel variants were identified in the alpha-NRXN1 gene, four intronic variants and one missense variant in exon 14 (c.2713T > A or p.F905I). Conclusion: Mutation screening of the NRXN1gene in patients with ID and ASD may be useful to identify potential variants predisposing to ID and ASD. However, further studies utilizing protein functional analysis of the novel variants are required for a more definite conclusion.
C1 [Yangngam, Supaporn] Prince Songkla Univ, Fac Med, Grad Program Biomed Sci, Hat Yai 90110, Songkhla, Thailand.
[Yangngam, Supaporn] Prince Songkla Univ, Fac Med Technol, Hat Yai 90110, Songkhla, Thailand.
[Plong-On, Oradawan; Sripo, Thanya; Limprasert, Pornprot] Prince Songkla Univ, Fac Med, Div Human Genet, Dept Pathol, Hat Yai 90110, Songkhla, Thailand.
[Roongpraiwan, Rawiwan; Sombuntham, Tasnawat; Ruangdaraganon, Nichara] Mahidol Univ, Ramathibodi Hosp, Fac Med, Dept Pediat, Bangkok 10400, Thailand.
[Hansakunachai, Tippawan] Thammasat Univ, Dept Pediat, Fac Med, Pathum Thani, Thailand.
[Wirojanan, Juthamas] Prince Songkla Univ, Fac Med, Dept Pediat, Hat Yai 90110, Songkhla, Thailand.
RP Limprasert, P (reprint author), Prince Songkla Univ, Fac Med, Div Human Genet, Dept Pathol, Hat Yai 90110, Songkhla, Thailand.
EM lpornpro@yahoo.com
FU National Center for Genetic Engineering and Biotechnology (BIOTEC)
[BT-B-01-MG-18-4814]; Faculty of Medicine [48/364-006, 48/364-006-1,
48/364-006-2]; Prince of Songkla University [MED5202355, MED5406475]
FX This study was supported by the National Center for Genetic Engineering
and Biotechnology (BIOTEC) grant no. BT-B-01-MG-18-4814, and co-research
funding between the Faculty of Medicine (48/364-006, 48/364-006-1 and
48/364-006-2) and Prince of Songkla University (MED5202355 and
MED5406475).
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NR 22
TC 0
Z9 0
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1945-0265
EI 1945-0257
J9 GENET TEST MOL BIOMA
JI Genet. Test. Mol. Biomark.
PD JUL
PY 2014
VL 18
IS 7
BP 510
EP 515
DI 10.1089/gtmb.2014.0003
PG 6
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AL8MG
UT WOS:000339392600010
PM 24832020
ER
PT J
AU Chan, DFY
Chan, SHY
So, HK
Li, AM
Ng, RCM
Tsang, N
AF Chan, D. F. Y.
Chan, S. H. Y.
So, H. K.
Li, A. M.
Ng, R. C. M.
Tsang, N.
TI Dental Health of Preschool Children with Autism Spectrum Disorder in
Hong Kong
SO HONG KONG JOURNAL OF PAEDIATRICS
LA English
DT Article
DE Austism spectrum disorder; Dental health; Preschool children
ID CARIES EXPERIENCE; CARE NEEDS; PROGRAM
AB Children with autism spectrum disorder (ASD) were reported to have higher rates of unmet dental needs and behavioural problems that leading to dental care or oral hygiene problems. With the lack of dental services for preschool children in Hong Kong, the severity of dental problems in this group of children has not been documented locally. The aim of this study is to evaluate how well the preschool aged children with autism spectrum disorder comply with the recommendations from the dental profession, namely of tooth brushing habits, dental visits and rate of dental caries. Seventy percent of the 196 recruited children diagnosed with ASD with a mean age of 5.36 years from thirteen rehabilitation centres had established a twice daily tooth brushing habit at a mean age of 2.5 years. Eight-three of the children reported to have behavioural problems during toothbrushing. Thirty-six percent of these behavioural problems were unrelated to the toothbrushing procedure, including crying, screaming and other aggressive behaviour. Twenty-six percent suffered from dental caries of which 60% were reported as severe. Only 48% of them had visited dental services, the majority of these attending for dental checkups. Dental caries was significant higher in mother with low educational level and low-income families with children of ASD. Dental problems in this group of children are not a minor issue. A primary screening dental checkup service for preschool children with ASD especially in low-income families should be deeply considered in Hong Kong.
C1 [Chan, D. F. Y.; Chan, S. H. Y.; So, H. K.; Li, A. M.] Chinese Univ Hong Kong, Fac Med, Dept Paediat, Shatin, Hong Kong, Peoples R China.
[Ng, R. C. M.; Tsang, N.] Heep Hong Soc, Hong Kong, Hong Kong, Peoples R China.
RP Chan, DFY (reprint author), Chinese Univ Hong Kong, Fac Med, Dept Paediat, Shatin, Hong Kong, Peoples R China.
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Woo EKF, 2007, 3 CASER
NR 20
TC 0
Z9 0
PU MEDCOM LTD
PI CHAI WAN
PA ROOM 504-5, CHEUNG TAT CENTRE, 18 CHEUNG LEE ST, CHAI WAN, HONG KONG
00000, PEOPLES R CHINA
SN 1013-9923
J9 HONG KONG J PAEDIATR
JI Hong Kong J. Paediatr.
PD JUL
PY 2014
VL 19
IS 3
BP 161
EP 168
PG 8
WC Pediatrics
SC Pediatrics
GA AL8UJ
UT WOS:000339414900004
ER
PT J
AU Yang, WZ
Zhao, YJ
AF Yang, W. Z.
Zhao, Y. J.
TI Clinical Report: A Female with Down Syndrome and Autism
SO HONG KONG JOURNAL OF PAEDIATRICS
LA English
DT Article
DE Autism; Comorbidity; Down syndrome
ID DISORDERS
AB Objective: The association of autism and Down syndrome (DS) is comparatively uncommon, especially in females. We report a female patient with both DS and autism with detailed clinical information. Methods: The diagnosis of DS based on a particular set of facial characteristics, delayed growth and chromosomal analysis. Autism Behavior Checklist and the DSM-IV criteria of autism were used for the diagnosis of autism. Case presentation: A five-year-old girl was sent to our department due to unusual social development, language delay and restricted behaviour. At 8 months, she was diagnosed to have DS with the karyotype of 47, XX, +21. Autism was diagnosed based on the behaviour and the DSM-IV criteria. On the modified ABC, the score given by her mother was 90, which further supported the diagnosis. Conclusion: With low index of suspicion, autism/autism spectrum disorders can easily be missed in patients with DS. Increase in awareness that the 2 conditions can coexist in the same patient is important to paediatricians.
C1 [Yang, W. Z.; Zhao, Y. J.] China Med Univ, Shengjing Hosp, Dept Dev Pediat, Shenyang 110004, Peoples R China.
RP Zhao, YJ (reprint author), China Med Univ, Shengjing Hosp, Dept Dev Pediat, 36 Sanhao St, Shenyang 110004, Peoples R China.
FU National Natural Science Foundation of China [81101019]
FX This study was supported by a grant from the National Natural Science
Foundation of China (no. 81101019). Special thanks to the patient and
her guardian for their support and participation.
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NR 8
TC 0
Z9 0
PU MEDCOM LTD
PI CHAI WAN
PA ROOM 504-5, CHEUNG TAT CENTRE, 18 CHEUNG LEE ST, CHAI WAN, HONG KONG
00000, PEOPLES R CHINA
SN 1013-9923
J9 HONG KONG J PAEDIATR
JI Hong Kong J. Paediatr.
PD JUL
PY 2014
VL 19
IS 3
BP 185
EP 187
PG 3
WC Pediatrics
SC Pediatrics
GA AL8UJ
UT WOS:000339414900008
ER
PT J
AU Fishman, I
Keown, CL
Lincoln, AJ
Pineda, JA
Muller, RA
AF Fishman, Irina
Keown, Christopher L.
Lincoln, Alan J.
Pineda, Jaime A.
Mueller, Ralph-Axel
TI Atypical Cross Talk Between Mentalizing and Mirror Neuron Networks in
Autism Spectrum Disorder
SO JAMA PSYCHIATRY
LA English
DT Article
ID INTRINSIC FUNCTIONAL CONNECTIVITY; RESTING HUMAN BRAIN; STRUCTURAL
CONNECTIVITY; ASPERGER-SYNDROME; MIND; IMITATION; CHILDREN; ACTIVATION;
MECHANISMS; DEFICITS
AB IMPORTANCE Converging evidence indicates that brain abnormalities in autism spectrum disorder (ASD) involve atypical network connectivity, but it is unclear whether altered connectivity is especially prominent in brain networks that participate in social cognition.
OBJECTIVE To investigate whether adolescents with ASD show altered functional connectivity in 2 brain networks putatively impaired in ASD and involved in social processing, theory of mind (ToM) and mirror neuron system (MNS).
DESIGN, SETTING, AND PARTICIPANTS Cross-sectional study using resting-state functional magnetic resonance imaging involving 25 adolescents with ASD between the ages of 11 and 18 years and 25 typically developing adolescents matched for age, handedness, and nonverbal IQ.
MAIN OUTCOMES AND MEASURES Statistical parametric maps testing the degree of whole-brain functional connectivity and social functioning measures.
RESULTS Relative to typically developing controls, participants with ASD showed a mixed pattern of both over- and underconnectivity in the ToM network, which was associated with greater social impairment. Increased connectivity in the ASD group was detected primarily between the regions of the MNS and ToM, and was correlated with sociocommunicative measures, suggesting that excessive ToM-MNS cross talk might be associated with social impairment. In a secondary analysis comparing a subset of the 15 participants with ASD with the most severe symptomology and a tightly matched subset of 15 typically developing controls, participants with ASD showed exclusive overconnectivity effects in both ToM and MNS networks, which were also associated with greater social dysfunction.
CONCLUSIONS AND RELEVANCE Adolescents with ASD showed atypically increased functional connectivity involving the mentalizing and mirror neuron systems, largely reflecting greater cross talk between the 2. This finding is consistent with emerging evidence of reduced network segregation in ASD and challenges the prevailing theory of general long-distance underconnectivity in ASD. This excess ToM-MNS connectivity may reflect immature or aberrant developmental processes in 2 brain networks involved in understanding of others, a domain of impairment in ASD. Further, robust links with sociocommunicative symptoms of ASD implicate atypically increased ToM-MNS connectivity in social deficits observed in ASD.
C1 [Fishman, Irina; Keown, Christopher L.; Mueller, Ralph-Axel] San Diego State Univ, San Diego, CA 92120 USA.
[Lincoln, Alan J.] Alliant Int Univ, San Diego, CA USA.
[Pineda, Jaime A.] Univ Calif San Diego, La Jolla, CA 92093 USA.
RP Fishman, I (reprint author), San Diego State Univ, Brain Dev Imaging Lab, Dept Psychol, 6363 Alvarado Ct,Ste 200, San Diego, CA 92120 USA.
EM ifishman@mail.sdsu.edu
FU National Institutes of Health [R01 MH081023, K01 MH097972]; Autism
Science Foundation [12-1001]; Congressionally Directed Medical Research
Programs grant [AR093335]
FX This work was supported by grants from the National Institutes of Health
(grants R01 MH081023 to Dr Muller and K01 MH097972 to Dr Fishman) and
the Autism Science Foundation (grant 12-1001 to Dr Fishman). Data
acquisition in 7 participants was funded by a Congressionally Directed
Medical Research Programs grant (grant AR093335 to Dr Pineda).
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NR 72
TC 3
Z9 4
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 JUL
PY 2014
VL 71
IS 7
BP 751
EP 760
DI 10.1001/jamapsychiatry.2014.83
PG 10
WC Psychiatry
SC Psychiatry
GA AL5HU
UT WOS:000339165200005
PM 24740586
ER
PT J
AU Dong, ZC
AF Dong, Zhengchao
TI Mitochondrial Dysfunction as a Neurobiological Subtype of Autism
Spectrum Disorder (vol 71, pg 665, 2014)
SO JAMA PSYCHIATRY
LA English
DT Correction
C1 [Dong, Zhengchao] Columbia Univ, Dept Psychiat, Med Ctr, New York, NY 10027 USA.
[Dong, Zhengchao] New York State Psychiat Inst & Hosp, New York, NY 10032 USA.
RP Dong, ZC (reprint author), Columbia Univ, Dept Psychiat, Med Ctr, New York, NY 10027 USA.
CR Goh S, 2014, JAMA PSYCHIAT, V71, P665, DOI 10.1001/jamapsychiatry.2014.179
NR 1
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 JUL
PY 2014
VL 71
IS 7
BP 840
EP 840
PG 1
WC Psychiatry
SC Psychiatry
GA AL5HU
UT WOS:000339165200020
ER
PT J
AU Molteni, P
d'Alonzo, L
Colombo, M
AF Molteni, P.
d'Alonzo, L.
Colombo, M.
TI The importance of explaining autism to peers for promoting social
inclusion and interaction in mainstream school classrooms
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Molteni, P.; d'Alonzo, L.; Colombo, M.] Univ Cattolica Sacro Cuore, I-20123 Milan, Italy.
EM paola.molteni@unicatt.it
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 296
EP 296
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800038
ER
PT J
AU Hock, R
Kim, I
Kinsman, A
AF Hock, R.
Kim, I.
Kinsman, A.
TI Family management ability among parents of children with autism spectrum
disorder
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Hock, R.; Kim, I.; Kinsman, A.] Univ S Carolina, Coll Social Work, Columbia, SC 29208 USA.
EM roberth@sc.edu
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 298
EP 299
PG 2
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800053
ER
PT J
AU Sinzig, J
Vinzelberg, I
Evers, D
Lehmkuhl, G
AF Sinzig, J.
Vinzelberg, I.
Evers, D.
Lehmkuhl, G.
TI Executive function and attention profiles in preschool and elementary
school children with autism spectrum disorder and attention deficit
hyperactivity disorder
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
EM judith.sinzig@lvr.de
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 298
EP 298
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800048
ER
PT J
AU Bergmann, T
Sappok, T
Ziegler, M
Dames, S
Diefenbacher, A
Dziobek, I
AF Bergmann, T.
Sappok, T.
Ziegler, M.
Dames, S.
Diefenbacher, A.
Dziobek, I.
TI Music-based autism diagnostics (MUSAD): a newly developed diagnostic
measure for adults with intellectual developmental disabilities
suspected of autism
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Bergmann, T.; Sappok, T.; Ziegler, M.; Dames, S.; Diefenbacher, A.; Dziobek, I.] Evangel Krankenhaus Konigin Elisabeth Herzberge g, Dept Psychiat, Berlin, Germany.
EM bergmann.t@t-online.de
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 303
EP 303
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800078
ER
PT J
AU Sappok, T
Gaul, I
Diefenbacher, A
Bergmann, T
Dziobek, I
Bolte, S
Heinrich, M
AF Sappok, T.
Gaul, I.
Diefenbacher, A.
Bergmann, T.
Dziobek, I.
Boelte, S.
Heinrich, M.
TI The diagnostic behavioral assessment for autism spectrum disorder -
revised: a screening instrument for adults with intellectual disability
suspected of autism spectrum disorder
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Sappok, T.; Gaul, I.; Diefenbacher, A.; Bergmann, T.; Dziobek, I.; Boelte, S.; Heinrich, M.] Konigin Elisabeth Herzberge gGmbH, Evangel Krankenhaus, Dept Psychiat, Berlin, Germany.
EM tanja.sappok@t-online.de
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 303
EP 303
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800079
ER
PT J
AU Sappok, T
Diefenbacher, A
Gaul, I
Bolte, S
AF Sappok, T.
Diefenbacher, A.
Gaul, I.
Boelte, S.
TI Validity of the social communication questionnaire in adults with
intellectual disabilities and suspected autism spectrum disorder
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Sappok, T.; Diefenbacher, A.; Gaul, I.; Boelte, S.] Konigin Elisabeth Herzberge gGmbH, Evangel Krankenhaus, Dept Psychiat, Berlin, Germany.
EM tanja.sappok@t-online.de
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 303
EP 303
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800080
ER
PT J
AU Underwood, L
McCarthy, J
Chaplin, E
AF Underwood, L.
McCarthy, J.
Chaplin, E.
TI Screening for autism spectrum disorder in specialist mental health and
forensic settings
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Underwood, L.; McCarthy, J.; Chaplin, E.] Kings Coll London, Inst Psychiat, London WC2R 2LS, England.
EM lisa.underwood@kcl.ac.uk
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 303
EP 303
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800081
ER
PT J
AU Baker, B
Blacher, J
AF Baker, B.
Blacher, J.
TI Behavior problems and mental disorders in adolescents with autism
spectrum diorder, intellectual disability, or typical cognitive
development I: group comparisons
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Baker, B.; Blacher, J.] Univ Calif Los Angeles, Los Angeles, CA USA.
EM baker@psych.ucla.edu
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 304
EP 304
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800086
ER
PT J
AU Blacher, J
Baker, BL
AF Blacher, J.
Baker, B. L.
TI Behavior problems and mental disorders in adolescents with autism
spectrum diorder, intellectual disability, or typical cognitive
development II: collateral effects on parents
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Blacher, J.; Baker, B. L.] Univ Calif Los Angeles, Los Angeles, CA USA.
EM jan.blacher@ucr.edu
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 304
EP 304
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800087
ER
PT J
AU Chester, V
Esan, F
Chester, V
Gunaratna, IJ
Hoare, S
Alexander, RT
AF Chester, V.
Esan, F.
Chester, V.
Gunaratna, I. J.
Hoare, S.
Alexander, R. T.
TI The clinical, forensic, and treatment outcome factors of people with
autism spectrum disorder treated in a forensic intellectual disability
setting
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Chester, V.; Esan, F.; Chester, V.; Gunaratna, I. J.; Hoare, S.; Alexander, R. T.] Partnerships Care Learning Disabil Serv, Diss, Norfolk, England.
EM verity.chester@partnershipsincare.co.uk
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 308
EP 308
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800114
ER
PT J
AU Benson, PR
AF Benson, P. R.
TI The impact of educational involvement on psychological adjustment among
mothers of children with autism spectrum disorder: a longitudinal study
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Benson, P. R.] Univ Massachusetts, Boston, MA 02125 USA.
EM paul.benson@umb.edu
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 311
EP 311
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800132
ER
PT J
AU Bergmann, T
Heinrich, M
Diefenbacher, A
Sappok, T
AF Bergmann, T.
Heinrich, M.
Diefenbacher, A.
Sappok, T.
TI Inclusion in diagnostics/health care: a multiprofessional approach for
diagnosing autism in adults with intellectual disabilities
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Bergmann, T.; Heinrich, M.; Diefenbacher, A.; Sappok, T.] Evangel Krankenhaus Konigin Elisabeth Herzberge g, Dept Psychiat, Berlin, Germany.
EM bergmann.t@t-online.de
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 325
EP 325
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800220
ER
PT J
AU de Vaan, G
Vervloed, MPJ
Knoors, H
Verhoeven, L
AF de Vaan, G.
Vervloed, M. P. J.
Knoors, H.
Verhoeven, L.
TI Diagnosing autism in people with multiple disabilities: introducing a
new instrument
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [de Vaan, G.; Vervloed, M. P. J.; Knoors, H.; Verhoeven, L.] Radboud Univ Nijmegen, NL-6525 ED Nijmegen, Netherlands.
EM g.devaan@pwo.ru.nl
RI Vervloed, Mathijs/D-6094-2012
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 325
EP 326
PG 2
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800221
ER
PT J
AU Ratcliffe, B
AF Ratcliffe, B.
TI Emotion-based social skills training for children with autism spectrum
disorder and mild intellectual disability: a controlled intervention
study of 75 children in Australian primary schools
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Ratcliffe, B.] Univ Sydney, Childrens Hosp Westmead, Sydney, NSW 2006, Australia.
EM belinda.jones@gmail.com
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 325
EP 325
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800219
ER
PT J
AU Lundqvist, LO
AF Lundqvist, L. O.
TI Factors predicting social dysfunction in people with autism: a multiple
mediation model approach
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Lundqvist, L. O.] Univ Orebro, Rehabil Res Ctr, SE-70182 Orebro, Sweden.
EM lars-olov.lundqvist@orebroll.se
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 326
EP 326
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800222
ER
PT J
AU Underwood, L
McCarthy, J
Tsakanikos, E
Craig, T
Howlin, P
Bouras, N
AF Underwood, L.
McCarthy, J.
Tsakanikos, E.
Craig, T.
Howlin, P.
Bouras, N.
TI Predictors of challenging behaviour among specialist mental health
service users with intellectual disability and autism
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Underwood, L.; McCarthy, J.; Tsakanikos, E.; Craig, T.; Howlin, P.; Bouras, N.] Kings Coll London, Inst Psychiat, London WC2R 2LS, England.
EM lisa.underwood@kcl.ac.uk
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 326
EP 326
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800223
ER
PT J
AU Baines, S
Christie, A
Hatton, C
AF Baines, S.
Christie, A.
Hatton, C.
TI People with autism and the criminal justice system in England: data from
the autism self assessment framework
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Baines, S.; Christie, A.; Hatton, C.] Univ Lancaster, Publ Hlth England Learning Disabil Publ Hlth Obse, Lancaster LA1 4YW, England.
EM chris.hatton@lancaster.ac.uk
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 333
EP 334
PG 2
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800263
ER
PT J
AU Richardson, L
Beadle-Brown, J
Leigh, J
Whelton, R
Bradshaw, J
AF Richardson, L.
Beadle-Brown, J.
Leigh, J.
Whelton, R.
Bradshaw, J.
TI Quality of life and quality of support for people with severe
Intellectual disabilities and autism
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Richardson, L.; Beadle-Brown, J.; Leigh, J.; Whelton, R.; Bradshaw, J.] Univ Kent, Tizard Ctr, Canterbury, Kent, England.
EM l.j.richardson-29@kent.ac.uk
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 341
EP 341
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800311
ER
PT J
AU Beadle-Brown, J
Richardson, L
Wilkinson, D
Shaughnessy, N
Trimingham, M
Leigh, J
Whelton, B
Himmerich, J
AF Beadle-Brown, J.
Richardson, L.
Wilkinson, D.
Shaughnessy, N.
Trimingham, M.
Leigh, J.
Whelton, B.
Himmerich, J.
TI Imagining Autism: impact of a drama based intervention on the social
communicative and imaginative behaviour of children with autism
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Beadle-Brown, J.; Richardson, L.; Wilkinson, D.; Shaughnessy, N.; Trimingham, M.; Leigh, J.; Whelton, B.; Himmerich, J.] Univ Kent, Tizard Ctr, Canterbury, Kent, England.
EM j.d.beadle-brown@kent.ac.uk
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 343
EP 343
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800321
ER
PT J
AU Richardson, L
Beadle-Brown, J
Wilkinson, D
Shaughnessy, N
Trimingham, M
Leigh, J
Whelton, R
Himmerich, J
AF Richardson, L.
Beadle-Brown, J.
Wilkinson, D.
Shaughnessy, N.
Trimingham, M.
Leigh, J.
Whelton, R.
Himmerich, J.
TI Imagining Autism: evaluation of a drama based intervention for children
with autism - the views of teachers and parents
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Richardson, L.; Beadle-Brown, J.; Wilkinson, D.; Shaughnessy, N.; Trimingham, M.; Leigh, J.; Whelton, R.; Himmerich, J.] Univ Kent, Tizard Ctr, Canterbury, Kent, England.
EM l.j.richardson-29@kent.ac.uk
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 343
EP 344
PG 2
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800324
ER
PT J
AU Guest, C
Marno, R
Finn, A
Richardson, L
Malovic, A
Beadle-Brown, J
Pritchard, A
AF Guest, C.
Marno, R.
Finn, A.
Richardson, L.
Malovic, A.
Beadle-Brown, J.
Pritchard, A.
TI Promoting participation of people with autism and learning disabilities
in research: lessons and experiences from the Living in Fear Project
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Guest, C.; Marno, R.; Finn, A.; Richardson, L.; Malovic, A.; Beadle-Brown, J.; Pritchard, A.] Mcch Soc Ltd, Maidstone, Kent, England.
EM enableuk@btinternet.com
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 345
EP 345
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800334
ER
PT J
AU Hodgetts, S
McConnell, D
Zwaigenbaum, L
Nicholas, D
AF Hodgetts, S.
McConnell, D.
Zwaigenbaum, L.
Nicholas, D.
TI The relationship between autism services and mothers' wellbeing
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Hodgetts, S.; McConnell, D.; Zwaigenbaum, L.; Nicholas, D.] Univ Alberta, Edmonton, AB, Canada.
EM sandra.hodgetts@ualberta.ca
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 353
EP 353
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800382
ER
PT J
AU Hastings, RP
Petalas, MA
AF Hastings, R. P.
Petalas, M. A.
TI Self-reported behaviour problems and sibling relationship quality by
siblings of children with autism spectrum disorder
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Hastings, R. P.; Petalas, M. A.] Univ Warwick, Coventry CV4 7AL, W Midlands, England.
EM r.hastings@warwick.ac.uk
RI Hastings, Richard/D-9657-2013
OI Hastings, Richard/0000-0002-0495-8270
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 363
EP 363
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800444
ER
PT J
AU Boonen, H
Lambrechts, G
Maljaars, J
Zink, I
Van Leeuwen, K
Noens, I
AF Boonen, H.
Lambrechts, G.
Maljaars, J.
Zink, I.
Van Leeuwen, K.
Noens, I.
TI Parenting in families of school-aged children with autism spectrum
disorder: an observational study
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Boonen, H.; Lambrechts, G.; Maljaars, J.; Zink, I.; Van Leeuwen, K.; Noens, I.] Katholieke Univ Leuven, Parenting & Special Educ Res Unit, Leuven, Belgium.
EM hannah.boonen@ppw.kuleuven.be
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 364
EP 364
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800454
ER
PT J
AU Maljaars, J
Lambrechts, G
Boonen, H
Van Leeuwen, K
Noens, I
AF Maljaars, J.
Lambrechts, G.
Boonen, H.
Van Leeuwen, K.
Noens, I.
TI Exploring parenting behaviour in families of children and adolescents
with autism spectrum disorder and/or intellectual disability
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Maljaars, J.; Lambrechts, G.; Boonen, H.; Van Leeuwen, K.; Noens, I.] Katholieke Univ Leuven, Parenting & Special Educ Res Unit, Leuven, Belgium.
EM jarymke.maljaars@ppw.kuleuven.be
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 365
EP 365
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800455
ER
PT J
AU Van Hees, V
Moyson, T
Roeyers, H
AF Van Hees, V.
Moyson, T.
Roeyers, H.
TI Enhancing the transition from secondary school to post-secondary
education for students with autism spectrum disorder
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Van Hees, V.; Moyson, T.; Roeyers, H.] Artevelde Univ Coll Ghent, Ghent, Belgium.
EM valerie.vanhees@arteveldehs.be
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 375
EP 375
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800513
ER
PT J
AU Kado, Y
Sanada, S
Ogino, T
Ohno, S
Watanabe, K
Nakano, K
Morooka, T
Oka, M
Kobayashi, K
AF Kado, Y.
Sanada, S.
Ogino, T.
Ohno, S.
Watanabe, K.
Nakano, K.
Morooka, T.
Oka, M.
Kobayashi, K.
TI Examining executive function in children with autism with comorbid ADHD
using the Wisconsin card sorting test
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Kado, Y.; Sanada, S.; Ogino, T.; Ohno, S.; Watanabe, K.; Nakano, K.; Morooka, T.; Oka, M.; Kobayashi, K.] Kansai Univ, Fac Letters, Dept Psychol, Suita, Osaka, Japan.
EM kado@kansai-u.ac.jp
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 383
EP 383
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800556
ER
PT J
AU Kwek, C
Lee, B
Teng, J
AF Kwek, C.
Lee, B.
Teng, J.
TI Understanding factors influencing challenging behaviours among children
with autism spectrum disorders and multiple disabilities
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Kwek, C.; Lee, B.; Teng, J.] AWWA Sch, AWWA, Singapore, Singapore.
EM christinekwek@gmail.com
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 383
EP 383
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800558
ER
PT J
AU Lee, W
Kwak, SC
Kim, HJ
Shi, M
AF Lee, W.
Kwak, S. C.
Kim, H. J.
Shi, M.
TI A study on experience of parents for the transition to middle school of
students with autism spectrum disorder
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Lee, W.; Kwak, S. C.; Kim, H. J.; Shi, M.] Kongju Natl Univ, Gongju, South Korea.
EM 2weonhee@hanmail.net
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 383
EP 383
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800559
ER
PT J
AU Molteni, P
d'Alonzo, L
Colombo, M
AF Molteni, P.
d'Alonzo, L.
Colombo, M.
TI The impact of sensory issues on children on the autism spectrum in
mainstream classrooms: teachers' perspectives and training needs
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Molteni, P.; d'Alonzo, L.; Colombo, M.] Univ Cattolica Sacro Cuore, Sch Educ, Res Ctr Disabil & Marginal, I-20123 Milan, Italy.
EM paola.molteni@unicatt.it
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 383
EP 383
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800560
ER
PT J
AU Poon, KK
Chew, I
Tan, A
Teh, J
AF Poon, K. K.
Chew, I.
Tan, A.
Teh, J.
TI The effectiveness of the T.Jacket for children with autism spectrum
disorders
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Poon, K. K.; Chew, I.; Tan, A.; Teh, J.] T Ware Private Ltd, Singapore, Singapore.
EM kenneth.poon@nie.edu.sg
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 384
EP 384
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800564
ER
PT J
AU Yamane, K
Fujii, Y
AF Yamane, K.
Fujii, Y.
TI Supports for children with autism who have unbalanced diets
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Yamane, K.; Fujii, Y.] Hiroshima City Seibu Ctr Childrens Treatment & Gu, Saeki Ku, Hiroshima, Japan.
EM holycow@jb3.so-net.ne.jp
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 385
EP 385
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800573
ER
PT J
AU Kosel, M
Peyruchaud, L
Fallevoz, B
Caharel, D
Traore, MC
Galli-Carminati, G
AF Kosel, M.
Peyruchaud, L.
Fallevoz, B.
Caharel, D.
Traore, M. -C.
Galli-Carminati, G.
TI Mixed socio-educative and psychiatric therapeutic living structure for
patients with autism spectrum disorders, intellectual disability and
challenging behaviour
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Kosel, M.; Peyruchaud, L.; Fallevoz, B.; Caharel, D.; Traore, M. -C.; Galli-Carminati, G.] Univ Hosp Geneva, Psychiat Unit Mental Dev, Geneva, Switzerland.
EM markus.kosel@hcuge.ch
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 388
EP 389
PG 2
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800594
ER
PT J
AU Kanfiszer, L
Collins, S
AF Kanfiszer, L.
Collins, S.
TI The lived experiences of women with an autism spectrum disorder: a
narrative inquiry
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Kanfiszer, L.; Collins, S.] Univ Essex, Colchester CO4 3SQ, Essex, England.
EM lkanfi@essex.ac.uk
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 393
EP 393
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800623
ER
PT J
AU Petropoulou, E
AF Petropoulou, E.
TI Playworkers' perceptions of friendships among adolescents with high
functioning autism/Asperger syndrome
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Meeting Abstract
C1 [Petropoulou, E.] Univ Edinburgh, Moray House Sch Educ, Edinburgh EH8 9YL, Midlothian, Scotland.
EM evangelia.petropoulou@cgu.ac.uk
NR 0
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 JUL
PY 2014
VL 27
IS 4
SI SI
BP 397
EP 397
PG 1
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AL2YW
UT WOS:000338992800651
ER
PT J
AU Klitzman, R
Abbate, KJ
Chung, WK
Ottman, R
Leu, CS
Appelbaum, PS
AF Klitzman, Robert
Abbate, Kristopher J.
Chung, Wendy K.
Ottman, Ruth
Leu, Cheng-Shiun
Appelbaum, Paul S.
TI Views of Preimplantation Genetic Diagnosis Among Psychiatrists and
Neurologists
SO JOURNAL OF REPRODUCTIVE MEDICINE
LA English
DT Article
DE assisted reproductive technology; doctor-patient communication; ethics;
eugenics; gender selection; obstetrics/gynecology; preimplantation
genetic diagnosis; prenatal genetic testing
ID ATTITUDES; PHYSICIANS; RATES; CHINA; PGD
AB OBJECTIVE: To examine key aspects of neurologists' and psychiatrists' views and approaches regarding prenatal genetic testing (GT) and preimplantation genetic diagnosis (PGD).
STUDY DESIGN: We surveyed attitudes and practices among 163 neurologists and 372 psychiatrists.
RESULTS: A total of 24.9% of neurologists and 31.9% of psychiatrists had discussed prenatal GT with patients, but 95.3% did not feel comfortable discussing PGD; only 2.9% discussed it, and only 1.8% had patients ask about PGD. Most would refer for PGD for Huntington's disease and Tay-Sachs disease, fewer for cystic fibrosis, and fewer still for autism, Alzheimer's disease, or gender selection for family balancing; in each of these cases, psychiatrists' percentages were higher than those of neurologists. Providers who would refer for PGD for Huntington's disease, cystic fibrosis, or gender selection differed from others in proportions of patients with insurance and were more likely to have undergone a GT themselves and be concerned about discrimination.
CONCLUSION: These data, the first to examine how neurologists and psychiatrists view PGD, suggest that they do not feel comfortable discussing PGD but have strong views about its use. Potential PGD use is associated with concerns about discrimination and less experience with GT. These data highlight the need for enhancing education about these technologies among various providers.
C1 Columbia Univ, Med Ctr, Dept Clin Psychiat, New York, NY 10032 USA.
Columbia Univ, Med Ctr, Dept Epidemiol, New York, NY 10032 USA.
Columbia Univ, Med Ctr, Dept Neurol, New York, NY 10032 USA.
Columbia Univ, Med Ctr, HIV Ctr Clin & Behav Studies, New York, NY 10032 USA.
New York State Psychiat Inst & Hosp, Gertrude H Sergievsky Ctr, New York, NY 10032 USA.
New York State Psychiat Inst & Hosp, Div Epidemiol, New York, NY 10032 USA.
RP Klitzman, R (reprint author), Columbia Univ, Dept Clin Psychiat, 1051 Riverside Dr,Unit 15, New York, NY 10032 USA.
EM rlk2@columbia.edu
RI Ottman, Ruth/O-2371-2013
FU National Human Genome Research Institute [1P20HG005535-01,
1P50HG007257-01]
FX This work was supported by National Human Genome Research Institute
grants #1P20HG005535-01 and #1P50HG007257-01 (Paul Appelbaum, Principal
Investigator).
CR ACOG Committee on Genetics, 2009, OBSTET GYNECOL, V113, P1194
Asch S, 2000, J GEN INTERN MED, V15, P591, DOI 10.1046/j.1525-1497.2000.02329.x
Baruch S, 2006, FERTIL STERIL, V89, P1
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Demko ZP, 2010, J C EMBRYOLOGY, V13, P6
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Kellerman SE, 2001, AM J PREV MED, V20, P61, DOI 10.1016/S0749-3797(00)00258-0
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Kokkali G, 2007, HUM REPROD, V22, P1443, DOI 10.1093/humrep/del506
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Traeger-Synodinos J, 2013, INT J LAB HEMATOL, V35, P571, DOI 10.1111/ijlh.12086
Traeger-Synodinos J, 2013, HUM REPROD, V28, P18
NR 21
TC 0
Z9 0
PU SCI PRINTERS & PUBL INC
PI ST LOUIS
PA PO DRAWER 12425 8342 OLIVE BLVD, ST LOUIS, MO 63132 USA
SN 0024-7758
EI 1943-3565
J9 J REPROD MED
JI J. Reprod. Med.
PD JUL-AUG
PY 2014
VL 59
IS 7-8
BP 385
EP 392
PG 8
WC Obstetrics & Gynecology
SC Obstetrics & Gynecology
GA AL8UG
UT WOS:000339414600008
PM 25098029
ER
PT J
AU Vinet, E
Scott, S
Pineau, C
Joseph, L
Clarke, A
Fombonne, E
Platt, R
Bernatsky, S
AF Vinet, Evelyne
Scott, Susan
Pineau, Christian
Joseph, Lawrence
Clarke, Ann
Fombonne, Eric
Platt, Robert
Bernatsky, Sasha
TI Increased Risk of Autism Spectrum Disorders in Children Born to Women
with SLE: Preliminary Data from the OSLER Cohort
SO JOURNAL OF RHEUMATOLOGY
LA English
DT Meeting Abstract
CT 69th Annual Meeting of the Canadian-Rheumatology-Association (CRA)
CY FEB 24-MAR 01, 2014
CL Whistler, CANADA
SP Canadian Rheumatol Assoc
C1 [Vinet, Evelyne; Pineau, Christian] McGill Univ, Ctr Hlth, Montreal, PQ, Canada.
[Joseph, Lawrence] McGill Univ, Res Inst, Ctr Hlth, Montreal, PQ, Canada.
[Clarke, Ann; Bernatsky, Sasha] McGill Univ, Montreal, PQ, Canada.
NR 0
TC 0
Z9 0
PU J RHEUMATOL PUBL CO
PI TORONTO
PA 365 BLOOR ST E, STE 901, TORONTO, ONTARIO M4W 3L4, CANADA
SN 0315-162X
EI 1499-2752
J9 J RHEUMATOL
JI J. Rheumatol.
PD JUL
PY 2014
VL 41
IS 7
MA 5
BP 1436
EP 1436
PG 1
WC Rheumatology
SC Rheumatology
GA AL1YU
UT WOS:000338923700034
ER
PT J
AU Wolff, ER
Madlon-Kay, DJ
AF Wolff, Emily R.
Madlon-Kay, Diane J.
TI Childhood Vaccine Beliefs Reported by Somali and Non-Somali Parents
SO JOURNAL OF THE AMERICAN BOARD OF FAMILY MEDICINE
LA English
DT Article
DE Autism; Measles; Somalia; Vaccination; Immunization
ID MEASLES
AB Background: In 2011, an outbreak of measles in Minnesota was traced back to an unvaccinated Somali child. The purpose of this project was to (1) ascertain whether Somali parents are more likely than non-Somalis to refuse childhood vaccinations, particularly the measles-mumps-rubella (MMR) vaccine and (2) determine what factors influence the decision not to vaccinate.
Methods: We explored parental perceptions and utilization of vaccines through a survey distributed to a convenience sample of Somali and non-Somali parents of children <= 5 years old in a family medicine clinic in Minneapolis, MN.
Results: A total of 99 surveys were completed, 28% (n = 27) by Somali parents. Somali parents were more likely than non-Somali parents to have refused the MMR vaccine for their child (odds ratio, 4.6; 95% confidence interval, 1.2-18.0). Most of them refused vaccines because they had heard of adverse effects associated with the vaccine or personally knew someone who suffered an adverse effect. Somali parents were significantly more likely to believe that autism is caused by vaccines (35% vs. 8% of non-Somali parents). Somalis were also more likely to be uncomfortable with administering multiple vaccines at one visit (odds ratio, 4.0; 95% confidence interval, 1.4-11.9) and more likely to believe that children receive too many vaccines.
Conclusions: Statistically significant differences in perceptions and use of vaccines were reported by Somali and non-Somali participants. Somali parents are more likely to believe that the MMR vaccine causes autism and more likely to refuse the MMR vaccine than non-Somali parents. These beliefs have contributed to an immunization gap between Somali and non-Somali children.
C1 [Madlon-Kay, Diane J.] Univ Minnesota, Dept Family Med & Community Hlth, Sch Med, Minneapolis, MN 55455 USA.
RP Wolff, ER (reprint author), Univ Minnesota, Med Sch Twin Cities, 420 Delaware St SE, Minneapolis, MN 55455 USA.
EM smit6761@umn.edu
FU David Mercy Summer Externship Program of the Minnesota Academy of Family
Physicians Foundation; Minnesota Academy of Family Physicians; American
Academy of Family Physicians
FX Funding: The study was funded by the David Mercy Summer Externship
Program of the Minnesota Academy of Family Physicians Foundation, The
Minnesota Academy of Family Physicians, and the American Academy of
Family Physicians.
CR Lynfield R., 2011, Morbidity and Mortality Weekly Report, V60, P421
McLean Huong, 2012, Morbidity and Mortality Weekly Report, V61, P253
Hewitt A, 2013, MINNEAPOLIS SOMALI A
Kennedy A, 2011, PEDIATRICS, V127, pS92, DOI 10.1542/peds.2010-1722N
Kulane A, 2007, SOMALI PARENTS ACCEP
Minnesota Department of Health, AUT SOM COMM REP STU
Poland GA, 2011, MAYO CLIN PROC, V86, P869, DOI 10.4065/mcp.2011.0467
Rubin R, 2011, WHATS LATEST MEASLES
Sabella C, 2010, CLEV CLIN J MED, V77, P207, DOI 10.3949/ccjm.77a.09123
Tomlinson N, 2013, DIVERS EQUAL HLTH CA, V10, P101
NR 10
TC 1
Z9 1
PU AMER BOARD FAMILY MEDICINE
PI LEXINGTON
PA 2228 YOUNG DR, LEXINGTON, KY 40505 USA
SN 1557-2625
EI 1558-7118
J9 J AM BOARD FAM MED
JI J. Am. Board Fam. Med.
PD JUL-AUG
PY 2014
VL 27
IS 4
BP 458
EP 464
DI 10.3122/jabfm.2014.04.130275
PG 7
WC Primary Health Care; Medicine, General & Internal
SC General & Internal Medicine
GA AL5IS
UT WOS:000339167800009
PM 25002000
ER
PT J
AU Varella, AAB
de Souza, DG
AF Varella, Andre A. B.
de Souza, Deisy G.
TI EMERGENCE OF AUDITORY-VISUAL RELATIONS FROM A VISUAL-VISUAL BASELINE
WITH AUDITORY-SPECIFIC CONSEQUENCES IN INDIVIDUALS WITH AUTISM
SO JOURNAL OF THE EXPERIMENTAL ANALYSIS OF BEHAVIOR
LA English
DT Article
DE equivalence relations; outcome specific reinforcement; conditional
discrimination; auditory-visual discrimination; autism
ID MATCHING-TO-SAMPLE; STIMULUS-REINFORCER RELATIONS;
EQUIVALENCE-RELATIONS; CONDITIONAL DISCRIMINATION; DIFFERENTIAL
OUTCOMES; TRAINING PROCEDURE; SYMBOLIC BEHAVIOR; CLASS MEMBERSHIP;
CHILDREN; ADULTS
AB Empirical studies have demonstrated that class-specific contingencies may engender stimulus-reinforcer relations. In these studies, crossmodal relations emerged when crossmodal relations comprised the baseline, and intramodal relations emerged when intramodal relations were taught during baseline. This study investigated whether auditory-visual relations (crossmodal) would emerge after participants learned a visual-visual baseline (intramodal) with auditory stimuli presented as specific consequences. Four individuals with autism learned AB and CD relations with class-specific reinforcers. When A1 and C1 were presented as samples, the selections of B1 and D1, respectively, were followed by an edible (R1) and a sound (S1). Selections of B2 and D2 under the control of A2 and C2, respectively, were followed by R2 and S2. Probe trials tested for visual-visual AC, CA, AD, DA, BC, CB, BD, and DB emergent relations and auditory-visual SA, SB, SC, and SD emergent relations. All of the participants demonstrated the emergence of all auditory-visual relations, and three of four participants showed emergence of all visual-visual relations. Thus, the emergence of auditory-visual relations from specific auditory consequences suggests that these relations do not depend on crossmodal baseline training. The procedure has great potential for applied technology to generate auditory-visual discriminations and stimulus classes in the context of behavior-analytic interventions for autism.
C1 [Varella, Andre A. B.; de Souza, Deisy G.] Univ Fed Sao Carlos, BR-13565905 Sao Carlos, SP, Brazil.
RP Varella, AAB (reprint author), Univ Fed Sao Carlos, Lab Estudos Comportamento Humano, Rodovia Washington Luis,Km 235, BR-13565905 Sao Carlos, SP, Brazil.
EM andreavarella@gmail.com; ddgs@ufscar.br
FU Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)
[2009/011-003]; CNPq [573972/2008-7]; FAPESP [08/57705-8]
FX This research was supported by Fundacao de Amparo a Pesquisa do Estado
de Sao Paulo (FAPESP; Doctoral scholarship #2009/011-003 to the first
author). This report is based on a doctoral dissertation submitted by
the first author to the Graduate Program in Psychology, Universidade
Federal de Sao Carlos. The study was part of the research program of
Instituto Nacional de Ciencia e Tecnologia sobre Comportamento, Cognicao
e Ensino, supported by grants from CNPq (Grant # 573972/2008-7) and
FAPESP (Grant # 08/57705-8).
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NR 48
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0022-5002
EI 1938-3711
J9 J EXP ANAL BEHAV
JI J. Exp. Anal. Behav.
PD JUL
PY 2014
VL 102
IS 1
BP 139
EP 149
DI 10.1002/jeab.93
PG 11
WC Psychology, Biological; Behavioral Sciences; Psychology, Experimental
SC Psychology; Behavioral Sciences
GA AL5GU
UT WOS:000339162500008
PM 24965883
ER
PT J
AU Chung, BHY
Tao, VQ
Tso, WWY
AF Chung, Brian Hon-Yin
Tao, Victoria Qinchen
Tso, Winnie Wan-Yee
TI Copy number variation and autism: New insights and clinical implications
SO JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
LA English
DT Review
DE autism spectrum disorder; chromosome microarray; copy number variation;
genetic counseling; genetic testing
ID DE-NOVO MUTATIONS; LINKED MENTAL-RETARDATION; FRAGILE-X-SYNDROME;
SPECTRUM DISORDERS; HUMAN GENOME; CHROMOSOMAL REARRANGEMENTS; RECURRENT
MICRODELETIONS; STRUCTURAL VARIATION; IDENTIFICATION; SCHIZOPHRENIA
AB Genomic research can lead to discoveries of copy number variations (CNVs) which can be a susceptibility factor for autism spectrum disorder (ASD). The clinical translation is that this can improve the care of children with ASD. Chromosome microarray is now the first-tiered genetic investigation for ASD, with a detection rate exceeding conventional cytogenetics and any single gene testing. However, interpretation of the results is challenging and there is no consensus on "what" and "how much" to disclose. In this article, we will review how CNV studies have improved our understanding of ASD, the clinical applications, and related counseling issues. Future direction of autism genetic research is also discussed. Copyright (C) 2013, Elsevier Taiwan LLC & Formosan Medical Association. All rights reserved.
C1 [Chung, Brian Hon-Yin; Tao, Victoria Qinchen; Tso, Winnie Wan-Yee] Univ Hong Kong, Li Ka Shing Fac Med, Queen Mary Hosp, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China.
[Chung, Brian Hon-Yin] Univ Hong Kong, Li Ka Shing Fac Med, Tsan Yuk Hosp, Dept Obstet & Gynaecol, Hong Kong, Hong Kong, Peoples R China.
[Chung, Brian Hon-Yin] Univ Hong Kong, Li Ka Shing Fac Med, Ctr Reprod Dev & Growth, Hong Kong, Hong Kong, Peoples R China.
RP Chung, BHY (reprint author), Queen Mary Hosp, Dept Paediat & Adolescent Med, 1-F,New Clin Bldg,102,Pokfulam Rd, Hong Kong, Hong Kong, Peoples R China.
EM bhychung@hku.hk
FU SK Yee Medical Research Fund & SK Yee Medical Foundation
FX The authors would like to thank the Prenatal Diagnostic and Counseling
Department, Tsan Yuk Hospital, Hong Kong Special Administrative Region,
China for providing diagnostic and technical support for our CNV studies
on children with autism. We would also like to thank Professor Y.L. Lau
for his invaluable comments in reviewing our manuscript. This work was
supported by grants from the SK Yee Medical Research Fund & SK Yee
Medical Foundation.
CR American Psychiatric Association (APA), 2011, A 05 AUT SPECTR DIS
Autism and Developmental Disabilities Monitoring Network, 2012, PREV AUT SPECTR DIS
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NR 84
TC 0
Z9 1
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
EI 1876-0821
J9 J FORMOS MED ASSOC
JI J. Formos. Med. Assoc.
PD JUL
PY 2014
VL 113
IS 7
BP 400
EP 408
DI 10.1016/j.jfma.2013.01.005
PG 9
WC Medicine, General & Internal
SC General & Internal Medicine
GA AL4FJ
UT WOS:000339088000002
PM 24961180
ER
PT J
AU Johnson, V
AF Johnson, Virginia
TI Solving Sleep Problems in Children with Autism Spectrum Disorders: A
Guide for Frazzled Families
SO LIBRARY JOURNAL
LA English
DT Book Review
C1 [Johnson, Virginia] Weymouth Publ Lib, Weymouth, MA 02189 USA.
RP Johnson, V (reprint author), Weymouth Publ Lib, Weymouth, MA 02189 USA.
CR KATZ T, 2014, SOLVING SLEEP PROBLE
NR 1
TC 0
Z9 0
PU REED BUSINESS INFORMATION
PI NEW YORK
PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010 USA
SN 0363-0277
J9 LIBR J
JI Libr. J.
PD JUL
PY 2014
VL 139
IS 12
BP 102
EP 103
PG 2
WC Information Science & Library Science
SC Information Science & Library Science
GA AL1VT
UT WOS:000338915100206
ER
PT J
AU Serret, S
Hun, S
Iakimova, G
Lozada, J
Anastassova, M
Santos, A
Vesperini, S
Askenazy, F
AF Serret, Sylvie
Hun, Stephanie
Iakimova, Galina
Lozada, Jose
Anastassova, Margarita
Santos, Andreia
Vesperini, Stephanie
Askenazy, Florence
TI Facing the challenge of teaching emotions to individuals with low- and
high-functioning autism using a new Serious game: a pilot study
SO MOLECULAR AUTISM
LA English
DT Article
DE Serious game; High-functioning Autism; Low-functioning Autism; Social
Skills Training; Emotion Recognition; Computer-based Intervention
ID SPECTRUM DISORDERS; ASPERGER-SYNDROME; VIRTUAL-REALITY; CHILDREN;
RECOGNITION; FACES; SKILLS; CHILDHOOD; INTERVENTION; EXPRESSIONS
AB Background: It is widely accepted that emotion processing difficulties are involved in Autism Spectrum Conditions (ASC). An increasing number of studies have focused on the development of training programs and have shown promising results. However, most of these programs are appropriate for individuals with high-functioning ASC (HFA) but exclude individuals with low-functioning ASC (LFA). We have developed a computer-based game called JeStiMulE based on logical skills to teach emotions to individuals with ASC, independently of their age, intellectual, verbal and academic level.
The aim of the present study was to verify the usability of JeStiMulE (which is its adaptability, effectiveness and efficiency) on a heterogeneous ASC group. We hypothesized that after JeStiMulE training, a performance improvement would be found in emotion recognition tasks.
Methods: A heterogeneous group of thirty-three children and adolescents with ASC received two one-hour JeStiMulE sessions per week over four weeks. In order to verify the usability of JeStiMulE, game data were collected for each participant. Furthermore, all participants were presented before and after training with five emotion recognition tasks, two including pictures of game avatars (faces and gestures) and three including pictures of real-life characters (faces, gestures and social scenes).
Results: Descriptive data showed suitable adaptability, effectiveness and efficiency of JeStiMulE. Results revealed a significant main effect of Session on avatars (ANOVA: F (1,32) = 98.48, P < .001) and on pictures of real-life characters (ANOVA: F (1,32) = 49.09, P < .001). A significant Session x Task x Emotion interaction was also found for avatars (ANOVA: F (6,192) = 2.84, P = .01). This triple interaction was close to significance for pictures of real-life characters (ANOVA: F (12,384) = 1.73, P = .057). Post-hoc analyses revealed that 30 out of 35 conditions found a significant increase after training.
Conclusions: JeStiMulE appears to be a promising tool to teach emotion recognition not only to individuals with HFA but also those with LFA. JeStiMulE is thus based on ASC-specific skills, offering a model of logical processing of social information to compensate for difficulties with intuitive social processing.
C1 [Serret, Sylvie; Hun, Stephanie; Santos, Andreia; Vesperini, Stephanie] Univ Hosp CHU Lenval, Child & Adolescent Psychiat Dept, Autism Resources Ctr, Nice, France.
[Iakimova, Galina] Univ Nice Sophia Antipolis, Anthropol & Cognit & Social Psychol Res Unit, LAPCOS, EA 7278, F-06189 Nice, France.
[Lozada, Jose; Anastassova, Margarita] CEA LIST DIASI, Sensory & Ambient Interfaces Lab, Fontenay Aux Roses, France.
[Askenazy, Florence] Univ Hosp CHU Lenval, Child & Adolescent Psychiat Dept, Nice, France.
RP Serret, S (reprint author), Univ Hosp CHU Lenval, Child & Adolescent Psychiat Dept, Autism Resources Ctr, Nice, France.
EM serret.s@pediatrie-chulenval-nice.fr
FU Monaco Against Autism (MONAA); ABA Apprendre Autrement; Collectif
Handicap 06; CoBteK (Cognitive Behaviour Technology); French Ministry of
Industry
FX We are grateful to all children, adolescents and their families for
their participation in this study. We also thank our partners (Idees3
com, HLP Technologies, Autism Resources Center Nice, Day-care Units for
children and adolescents with autism ('La Caravelle', 'Les Coteaux
d'Azur' and 'Les Noisetiers') for their participation in this study.
Written informed consent was obtained from all participants and their
families. The consent form is held by the corresponding author and is
available for review by the Editor-in-Chief. We also acknowledge the
following associations for their support: Monaco Against Autism (MONAA),
ABA Apprendre Autrement, Collectif Handicap 06. We acknowledge the
support provided by CoBteK (Cognitive Behaviour Technology). The study
promoter was the Nice University Hospital (CHUN). The project was funded
by the French Ministry of Industry. The funding body had no role in the
study design, data collection, analyses, and data
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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 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD JUL 1
PY 2014
VL 5
AR 37
DI 10.1186/2040-2392-5-37
PG 17
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AL4AQ
UT WOS:000339075500001
PM 25018866
ER
PT J
AU Becerra, TA
von Ehrenstein, OS
Heck, JE
Olsen, J
Arah, OA
Jeste, SS
Rodriguez, M
Ritz, B
AF Becerra, Tracy A.
von Ehrenstein, Ondine S.
Heck, Julia E.
Olsen, Jorn
Arah, Onyebuchi A.
Jeste, Shafali S.
Rodriguez, Michael
Ritz, Beate
TI Autism Spectrum Disorders and Race, Ethnicity, and Nativity: A
Population-Based Study
SO PEDIATRICS
LA English
DT Article
DE autistic disorder; emigration and immigration; epidemiology; continental
population groups
ID DIAGNOSTIC OBSERVATION SCHEDULE; FOLIC ACID SUPPLEMENTATION; AMBIENT
AIR-POLLUTION; NON-HISPANIC WHITE; COUNTRY-OF-ORIGIN; LOW-BIRTH-WEIGHT;
UNITED-STATES; RISK-FACTORS; VITAMIN-D; REPRODUCTIVE AGE
AB OBJECTIVE: Our understanding of the influence of maternal race/ethnicity and nativity and childhood autistic disorder (AD) in African Americans/blacks, Asians, and Hispanics in the United States is limited. Phenotypic differences in the presentation of childhood AD in minority groups may indicate etiologic heterogeneity or different thresholds for diagnosis. We investigated whether the risk of developing AD and AD phenotypes differed according to maternal race/ethnicity and nativity.
METHODS: Children born in Los Angeles County with a primary AD diagnosis at ages 3 to 5 years during 1998-2009 were identified and linked to 1995-2006 California birth certificates (7540 children with AD from a cohort of 1 626 354 births). We identified a subgroup of children with AD and a secondary diagnosis of mental retardation and investigated heterogeneity in language and behavior.
RESULTS: We found increased risks of being diagnosed with AD overall and specifically with comorbid mental retardation in children of foreign-born mothers who were black, Central/South American, Filipino, and Vietnamese, as well as among US-born Hispanic and African American/black mothers, compared with US-born whites. Children of US African American/black and foreign-born black, foreign-born Central/South American, and US-born Hispanic mothers were at higher risk of exhibiting an AD phenotype with both severe emotional outbursts and impaired expressive language than children of US-born whites.
CONCLUSIONS: Maternal race/ethnicity and nativity are associated with offspring's AD diagnosis and severity. Future studies need to examine factors related to nativity and migration that may play a role in the etiology as well as identification and diagnosis of AD in children.
C1 [Becerra, Tracy A.; Heck, Julia E.; Olsen, Jorn; Arah, Onyebuchi A.; Ritz, Beate] Univ Calif Los Angeles, Dept Epidemiol, Fielding Sch Publ Hlth, Los Angeles, CA USA.
[von Ehrenstein, Ondine S.] Univ Calif Los Angeles, Dept Community Hlth Sci, Fielding Sch Publ Hlth, Los Angeles, CA USA.
[Jeste, Shafali S.] Univ Calif Los Angeles, Dept Psychiat & Behav Sci, Los Angeles, CA USA.
[Rodriguez, Michael] Univ Calif Los Angeles, Dept Family Med, Los Angeles, CA USA.
RP Ritz, B (reprint author), Fielding Sch Publ Hlth, Dept Epidemiol, Box 951772,650 Charles E Young Dr, Los Angeles, CA 90095 USA.
EM britz@ucla.edu
RI Heck, Julia/B-5230-2009; Ritz, Beate/E-3043-2015
FU University of California Los Angeles (UCLA) Graduate Division;
California Center for Population Research, UCLA - Eunice Kennedy Shriver
National Institute of Child Health and Human Development [R24HD041022];
NIEHS of the National Institutes of Health [R21ES022389]; National
Institutes of Health (NIH)
FX FUNDING: This research was sponsored by the University of California Los
Angeles (UCLA) Graduate Division, the California Center for Population
Research, UCLA, supported by infrastructure grant R24HD041022 from the
Eunice Kennedy Shriver National Institute of Child Health and Human
Development and by NIEHS of the National Institutes of Health under
award number R21ES022389. Funded by the National Institutes of Health
(NIH).
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NR 74
TC 2
Z9 2
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 JUL
PY 2014
VL 134
IS 1
BP E63
EP E71
DI 10.1542/peds.2013-3928
PG 9
WC Pediatrics
SC Pediatrics
GA AK9UZ
UT WOS:000338774800009
PM 24958588
ER
PT J
AU Kasari, C
Lawton, K
Shih, W
Barker, TV
Landa, R
Lord, C
Orlich, F
King, B
Wetherby, A
Senturk, D
AF Kasari, Connie
Lawton, Kathy
Shih, Wendy
Barker, Tyson V.
Landa, Rebecca
Lord, Catherine
Orlich, Felice
King, Bryan
Wetherby, Amy
Senturk, Damla
TI Caregiver-Mediated Intervention for Low-Resourced Preschoolers With
Autism: An RCT
SO PEDIATRICS
LA English
DT Article
DE autism; early intervention; parent-child interactions; joint attention
ID RANDOMIZED CONTROLLED-TRIAL; JOINT ATTENTION; SPECTRUM DISORDER;
CHILDREN; PLAY; TODDLERS; ENGAGEMENT; DIAGNOSIS; MODEL
AB OBJECTIVES: To compare 2 short-term, community caregiver training interventions for preschool-aged children with Autism Spectrum Disorder who had low resources. Low resource was defined by the US Department of Housing and Urban Development low-income index or 1 "indicator," (eg, Medicaid eligibility). Child outcomes focused on joint engagement, joint attention, and play.
METHODS: Participants included 112 families of a child who had Autism Spectrum Disorder who met criteria for being low-resourced and who were randomly assigned to 1 of 2 3-month interventions, group caregiver education or individualized caregiver-mediated intervention (CMM). Children were assessed for social communication skills pre- and post-treatment, and followed up at 3 months.
RESULTS: All children improved in joint engagement and initiating joint attention, with significantly greater improvement by the CMM group. Outcomes on play skills were mixed, with improvement of symbolic play for the CMM group and no change in functional play skills. Joint engagement maintained over time for the CMM group, and initiating joint attention maintained for both groups over time.
CONCLUSIONS: This study is among the first randomized trials comparing 2 active interventions with a large sample of low-resourced families. Results suggest improvements in core autism deficits of joint engagement, joint attention, and symbolic play with relatively brief, caregiver-mediated interventions, but additional support is necessary to maintain and generalize these gains over time.
C1 [Kasari, Connie; Shih, Wendy; Senturk, Damla] Univ Calif Los Angeles, Los Angeles, CA 90024 USA.
[Kasari, Connie] Univ Calif Los Angeles, Ctr Autism Res & Treatment, Los Angeles, CA 90024 USA.
[Lawton, Kathy] Ohio State Univ, Nisonger Ctr, Columbus, OH 43210 USA.
[Lawton, Kathy] Ohio State Univ, Dept Special Educ, Columbus, OH 43210 USA.
[Barker, Tyson V.] Univ Maryland, Dept Human Dev & Quantitat Methodol, College Pk, MD 20742 USA.
[Landa, Rebecca] Kennedy Krieger Inst, Baltimore, MD USA.
[Lord, Catherine] Weill Cornell Med Ctr, New York, NY USA.
[Orlich, Felice; King, Bryan] Childrens Hosp Seattle, Seattle, WA USA.
[Wetherby, Amy] Florida State Univ, Dept Clin Sci, Tallahassee, FL 32306 USA.
RP Kasari, C (reprint author), Univ Calif Los Angeles, Semel Inst 68 268, Los Angeles, CA 90024 USA.
EM ckasari@mednet.ucla.edu
FU Maternal and Child Health Research Program, Maternal and Child Health
Bureau (Combating Autism Act Initiative), Health Resources and Services
Administration, Department of Health and Human Services [UA3 MC 11055
AIR-B]
FX All phases of this study were supported by grant UA3 MC 11055 AIR-B from
the Maternal and Child Health Research Program, Maternal and Child
Health Bureau (Combating Autism Act Initiative), Health Resources and
Services Administration, Department of Health and Human Services.
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NR 28
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 JUL
PY 2014
VL 134
IS 1
BP E72
EP E79
DI 10.1542/peds.2013-3229
PG 8
WC Pediatrics
SC Pediatrics
GA AK9UZ
UT WOS:000338774800010
PM 24958585
ER
PT J
AU Sorrell, J
Salvaggio, H
Garg, A
Guo, LL
Duck, SC
Paller, AS
AF Sorrell, Jennifer
Salvaggio, Heather
Garg, Abhimanyu
Guo, Lulu
Duck, Stephen C.
Paller, Amy S.
TI Eruptive Xanthomas Masquerading as Molluscum Contagiosum
SO PEDIATRICS
LA English
DT Article
DE behavior eating; BMI; dermatology; autism
ID HYPERTRIGLYCERIDEMIA SECONDARY; HYPOTHYROIDISM; INSULIN
AB Eruptive xanthomas are cutaneous manifestations of hyperlipidemias in which lipids accumulate in large foam cells within the skin. They classically present as crops of 1-to 4-mm yellow-orange papules and are often associated with extreme hypertriglyceridemia. We describe a 12-year-old boy with autism who was thought to have widespread molluscum contagiosum for a year before dermatologic consultation was obtained. Recognition of eruptive xanthomas led to the discovery of massive hypertriglyceridemia (serum triglycerides 6853 mg/dL) and diabetes mellitus. Through medical intervention, including insulin and fenofibrate therapy, and dietary modification with weight loss, the xanthomas cleared during the subsequent months, and his serum triglyceride levels nearly normalized.
C1 [Sorrell, Jennifer; Salvaggio, Heather; Guo, Lulu; Paller, Amy S.] Northwestern Univ, Feinberg Sch Med, Dept Dermatol, Chicago, IL 60611 USA.
[Sorrell, Jennifer; Salvaggio, Heather; Guo, Lulu; Paller, Amy S.] Northwestern Univ, Feinberg Sch Med, Dept Pediat, Chicago, IL 60611 USA.
[Garg, Abhimanyu] Univ Texas SW Med Ctr Dallas, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA.
[Duck, Stephen C.] Univ Chicago, Sch Med, Dept Pediat, Chicago, IL 60637 USA.
RP Paller, AS (reprint author), Northwestern Univ, Sch Med, Dept Dermatol, 676 North St Clair St,Suite 1600, Chicago, IL 60611 USA.
EM apaller@northwestern.edu
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NR 18
TC 0
Z9 0
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 JUL
PY 2014
VL 134
IS 1
BP E257
EP E260
DI 10.1542/peds.2013-2108
PG 4
WC Pediatrics
SC Pediatrics
GA AK9UZ
UT WOS:000338774800031
PM 24918225
ER
PT J
AU Bekhet, AK
AF Bekhet, Abir K.
TI Self-Assessed Health in Caregivers of Persons With Autism Spectrum
Disorder: Associations With Depressive Symptoms, Positive Cognitions,
Resourcefulness, and Well-Being
SO PERSPECTIVES IN PSYCHIATRIC CARE
LA English
DT Article
DE Depressive symptoms; positive cognitions; resourcefulness; self-assessed
health
ID RELOCATION ADJUSTMENT; STRESS PROLIFERATION; PARENTING STRESS; CHILDREN;
MOTHERS; ADOLESCENTS; ASD; TODDLERS; OPTIMISM; ELDERS
AB PURPOSE: Caregiving for children with autism spectrum disorder (ASD) can affect family caregivers' self-assessed health. The purpose of this study was to determine whether depressive symptoms, positive cognitions, resourcefulness, and well-being will differ significantly among those who rated their health as fair, good, or excellent.
DESIGN AND METHODS: This study is a secondary analysis of 109 ASD caregivers who were recruited from the Interactive ASD Network.
FINDINGS: Depression was significantly lower among those who rated their health as excellent than among those who rated their health as fair. Positive cognitions, resourcefulness, and well-being were significantly higher among those who rated their health as excellent than among those who rated their health as fair.
PRACTICE IMPLICATIONS: Interventions to enhance caregivers' positive cognitions, resourcefulness, and well-being are recommended.
C1 Marquette Univ, Coll Nursing, Milwaukee, WI 53233 USA.
RP Bekhet, AK (reprint author), Marquette Univ, Coll Nursing, Milwaukee, WI 53233 USA.
EM abir.bekhet@marquette.edu
FU Way Klinger Young Scholar Award
FX The parent study is funded by the Way Klinger Young Scholar Award
awarded to Dr. Abir Bekhet. The author acknowledges the editorial
assistance of Elizabeth M. Tornquist (University of North Carolina at
Chapel Hill).
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NR 51
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0031-5990
EI 1744-6163
J9 PERSPECT PSYCHIATR C
JI Perspect. Psychiatr. Care
PD JUL
PY 2014
VL 50
IS 3
BP 210
EP 217
DI 10.1111/ppc.12046
PG 8
WC Nursing; Psychiatry
SC Nursing; Psychiatry
GA AL6WT
UT WOS:000339274900009
PM 24206628
ER
PT J
AU Horiuchi, F
Oka, Y
Uno, H
Kawabe, K
Okada, F
Saito, I
Tanigawa, T
Ueno, S
AF Horiuchi, Fumie
Oka, Yasunori
Uno, Hiroyuki
Kawabe, Kentaro
Okada, Fumi
Saito, Isao
Tanigawa, Takeshi
Ueno, Shu-ichi
TI Age- and sex-related emotional and behavioral problems in children with
autism spectrum disorders: Comparison with control children
SO PSYCHIATRY AND CLINICAL NEUROSCIENCES
LA English
DT Article
DE autism spectrum disorders; emotional and behavioral problems; Strengths
and Difficulties Questionnaire
ID DIFFICULTIES QUESTIONNAIRE; MENTAL-HEALTH; PREVALENCE; ADOLESCENTS;
STRENGTHS; BRITAIN; RATES; RISK; SDQ
AB Aim: Children with autism spectrum disorders (ASD) often present with emotional and behavioral problems, which could change the clinical course, especially during childhood, and affect future quality of life. The aim of this study was to clarify the age- and sex-related differences of these problems in ASD.
Methods: The study subjects were 173 patients with ASD (age: 4-16 years) and 173 age-and sex-matched community children (control group). The parent version of the Strengths and Difficulties Questionnaire was used for comparison of the emotional and behavioral problems between the two groups.
Results: The Strengths and Difficulties Questionnaire scores were significantly higher in children with ASD than controls at all ages. The score of total difficulties was significantly higher in girls with ASD than in boys, while the score in male controls was significantly higher than in female controls. Age-related differences in emotional and behavioral problems were observed both in children with ASD and controls, but the characteristics were different: in children with ASD, emotional symptoms and peer problems in both sexes and conduct problems in girls increased significantly with age, while none of the problems in the controls changed with age except for a decrease in the score of hyperactivity/inattention developmentally in both sexes. Prosocial behaviors of children with ASD and controls showed small changes with age.
Conclusion: Emotional and behavioral problems are common in children with ASD and showed age-and sex-related differences. Our study emphasizes the importance of recognizing those differences among children with ASD for early intervention.
C1 [Horiuchi, Fumie; Kawabe, Kentaro; Okada, Fumi; Ueno, Shu-ichi] Ehime Univ, Grad Sch Med, Dept Neuropsychiat & Neurosci, Toon, Japan.
[Saito, Isao; Tanigawa, Takeshi] Ehime Univ, Grad Sch Med, Dept Publ Hlth, Toon City, Ehime 7910295, Japan.
[Saito, Isao] Ehime Univ, Grad Sch Med, Dept Basic Nursing & Hlth Sci, Toon City, Ehime 7910295, Japan.
[Oka, Yasunori] Ehime Univ, Grad Sch Med, Ctr Sleep Med, Toon City, Ehime 7910295, Japan.
[Uno, Hiroyuki] Hyogo Univ Teachers Educ, Dept Educ Disabled Children, Nagoya, Aichi, Japan.
[Okada, Fumi] Nagoya Univ, Ctr Dev Clin Psychol & Psychiat, Nagoya, Aichi 4648601, Japan.
RP Horiuchi, F (reprint author), Ehime Univ, Grad Sch Med, Dept Neuropsychiat & Neurosci, Toon City, Ehime 7910295, Japan.
EM matsufu@m.ehime-u.ac.jp
CR Allen CW, 2007, J AUTISM DEV DISORD, V37, P1272, DOI 10.1007/s10803-006-0279-7
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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de Bruin EI, 2007, J AUTISM DEV DISORD, V37, P877, DOI 10.1007/s10803-006-0215-x
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Holtmann M, 2007, DEV MED CHILD NEUROL, V49, P361
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Matsuishi T, 2008, BRAIN DEV-JPN, V30, P410, DOI 10.1016/j.braindev.2007.12.003
Mattila ML, 2010, J AUTISM DEV DISORD, V40, P1080, DOI 10.1007/s10803-010-0958-2
Mazzone L, 2012, ANN GEN PSYCHIATR, V11, P13
Oka Y, 2011, CHIRYO, V93, P198
Robins DL, 2001, J AUTISM DEV DISORD, V31, P131, DOI 10.1023/A:1010738829569
Skokauskas N, 2012, J INTELL DISABIL RES, V56, P248, DOI 10.1111/j.1365-2788.2011.01423.x
Steinhausen HC, 2004, EUR CHILD ADOLES PSY, V13, P214, DOI 10.1007/s00787-004-0400-4
Sturm H, 2004, DEV MED CHILD NEUROL, V46, P444, DOI 10.1017/S0012162204000738
youthinmind, 1997, SDQ INF RES PROF STR
NR 26
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1323-1316
EI 1440-1819
J9 PSYCHIAT CLIN NEUROS
JI Psychiatry Clin. Neurosci.
PD JUL
PY 2014
VL 68
IS 7
BP 542
EP 550
DI 10.1111/pcn.12164
PG 9
WC Clinical Neurology; Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AL4PB
UT WOS:000339113800007
PM 24447342
ER
PT J
AU Jain, A
Spencer, D
Yang, WY
Kelly, JP
Newschaffer, CJ
Johnson, J
Marshall, J
Azocar, F
Tabb, LP
Dennen, T
AF Jain, Anjali
Spencer, Donna
Yang, Wenya
Kelly, Jonathan P.
Newschaffer, Craig J.
Johnson, Jonathan
Marshall, Jaclyn
Azocar, Francisca
Tabb, Loni Philip
Dennen, Taylor
TI Injuries Among Children With Autism Spectrum Disorder
SO ACADEMIC PEDIATRICS
LA English
DT Article
DE administrative claims; autism spectrum disorder; child injury;
commercial insurance
ID DEVELOPMENTAL-DISABILITIES; UNINTENTIONAL INJURY; UNITED-STATES; US
CHILDREN; RISK; ADOLESCENTS; INTERVALS; RATES; AGE
AB OBJECTIVE: We compared risk of injury among children with autism spectrum. disorder (ASD) to those without ASD, adjusting for demographic and clinical characteristics.
METHODS: We used claims data from 2001 to 2009 from a commercial health plan in the United States. A validated ASD case identification algorithm identified 33,565 children (ages 0-20 years) with ASD and 138,876 children without. Counting process models tested the association between ASD status and injury episodes with separate regressions run for children during different age periods.
RESULTS: Unadjusted results demonstrated that children with ASD had a 12% greater injury risk than children without ASD (hazard ratio [HR] = 1.119; P < .001). After including demographic variables, the HR was 1.03 (P < .05); after controlling for co-occurring conditions, such as seizures, depression, etc, HR decreased to 0.889 (P < .001). For the age period analysis, HR values were as follows: for 0 to 2 years, HR 1.141; 3 to 5 years, HR 1.282; 6 to 10 years, HR not significant; and 11 to 20 years, HR 0.634 (P < .05 for all significant results).
CONCLUSIONS: Children with ASD have more injuries than children without ASD. After controlling for demographic factors and co-occurring conditions, children with ASD are at lower risk of injury, suggesting that co-occurring conditions or the ways these conditions interact with ASD is related to injuries. Clinicians should understand that injury risk in children with ASD may be driven by co-occurring conditions. Treating these conditions could thus decrease injury risk as well as have other benefits. Injury prevention interventions are especially warranted for younger children with ASD and those with seizures, depression, visual impairment, or attention-deficit disorders.
C1 [Jain, Anjali; Yang, Wenya; Kelly, Jonathan P.; Marshall, Jaclyn; Dennen, Taylor] Lewin Grp, Falls Church, VA 22042 USA.
[Spencer, Donna; Johnson, Jonathan] OptumInsight Life Sci, Eden Prairie, MN USA.
[Newschaffer, Craig J.; Tabb, Loni Philip] Drexel Univ, Sch Publ Hlth, Philadelphia, PA 19104 USA.
[Azocar, Francisca] OptumHlth Behav Solut, San Francisco, CA USA.
RP Jain, A (reprint author), Lewin Grp, 3130 Fairview Pk Dr,Suite 500, Falls Church, VA 22042 USA.
EM anjali.jain@lewin.com
FU National Institute of Mental Health (NIMH), National Institutes of
Health, Department of Health and Human Services [HHSN-271-2010-00033-C]
FX This project was funded by the National Institute of Mental Health
(NIMH), National Institutes of Health, Department of Health and Human
Services, under contract HHSN-271-2010-00033-C. The authors acknowledge
the following for their contributions: Brady Post and Corey Lipow of the
Lewin Group; James Burke, Jeffrey McPheeters, Thomas Horstman, and Felix
Cao of OptumInsight; and Lindsey Lawer of Drexel University.
CR Agran PF, 2001, PEDIATRICS, V108, part. no., DOI 10.1542/peds.108.3.e45
Agran PF, 2003, PEDIATRICS, V111, pE683, DOI 10.1542/peds.111.6.e683
Anderson C, 2012, PEDIATRICS, V130, P870, DOI 10.1542/peds.2012-0762
Brenner RA, 2013, INT J INJ CONTROL SA, V20, P259, DOI 10.1080/17457300.2012.696662
Burke JP, 2014, AUTISM, V18, P321, DOI 10.1177/1362361312467709
Centers for Disease Control and Prevention, PROT ON YOU LOV CHIL
Centers for Disease Control and Prevention, PATT UN INJ 0 19 YEA
Gilchrist Julie, 2012, Morbidity and Mortality Weekly Report, V61, P270
Duerden EG, 2012, J AUTISM DEV DISORD, V42, P2460, DOI 10.1007/s10803-012-1497-9
Guo Z, 2008, METHOD INFORM MED, V47, P107, DOI 10.3414/ME0478
Huang P, 2012, J DEV BEHAV PEDIATR, V33, P70, DOI 10.1097/DBP.0b013e31823a43b7
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Xiang HY, 2005, AM J PUBLIC HEALTH, V95, P1970, DOI 10.2105/AJPH.2004.057505
NR 21
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1876-2859
EI 1876-2867
J9 ACAD PEDIATR
JI Acad. Pediatr.
PD JUL-AUG
PY 2014
VL 14
IS 4
BP 390
EP 397
PG 8
WC Pediatrics
SC Pediatrics
GA AL0OC
UT WOS:000338825200012
PM 24976351
ER
PT J
AU Zuckerman, KE
Lindly, OJ
Bethell, CD
Kuhlthau, K
AF Zuckerman, Katharine E.
Lindly, Olivia J.
Bethell, Christina D.
Kuhlthau, Karen
TI Family Impacts Among Children With Autism Spectrum Disorder: The Role of
Health Care Quality
SO ACADEMIC PEDIATRICS
LA English
DT Article
DE autism spectrum disorder; children with special health care needs;
delivery of health care; integrated; disabled children; family burden;
family health; financial burden; quality of health care
ID FINANCIAL BURDEN; NATIONAL-SURVEY; AGED CHILDREN; UNITED-STATES; MEDICAL
HOME; NEEDS; EMPLOYMENT; INSURANCE; SERVICES; DISABILITIES
AB OBJECTIVE: To compare health care quality and family employment and financial impacts among children with special health care needs (CSHCN) with autism spectrum disorder (CSHCN + ASD), CSHCN with functional limitations (CSHCN + FL), and CSHCN lacking these conditions (other CSHCN); to test whether high health care quality was associated with reduced family impacts among CSHCN + ASD.
METHODS: Data from the 2009-2010 National Survey of CSHCN were used to compare 3025 CSHCN + ASD, 6505 CSHCN + FL, and 28,296 other CSHCN. Weighted multivariate logistic regression analyses examined 6 age-relevant, federally defined health care quality indicators and 5 family financial and employment impact indicators. Two composite measures were additionally used: I) receipt of care that met all age-relevant quality indicators; and 2) had of the 5 adverse family impacts.
RESULTS: Across all health care quality indicators, CSHCN + ASD fared poorly, with only 7.4% meeting all age-relevant indicators. CSHCN + ASD had worse health care quality than other CSHCN, including CSHCN + FL. CSHCN + ASD also had high rates of adverse family impact, with over half experiencing adverse impacts. Rates of adverse family impact were higher in CSHCN + ASD than other CSHCN, including CSHCN + FL. Among CSHCN + ASD, those whose health care that met federal quality standards were less likely to have multiple adverse family impacts than CSHCN + ASD whose health care did not meet federal quality standards.
CONCLUSIONS: CSHCN + ASD are more prone to experience poor health care quality and family impacts than other CSHCN, even CSHCN + FL. Receipt of care meeting federal quality standards may potentially lessen adverse family impacts for CSHCN + ASD.
C1 [Zuckerman, Katharine E.; Lindly, Olivia J.; Bethell, Christina D.] Oregon Hlth & Sci Univ, Child & Adolescent Hlth Measurement Initiat, Portland, OR 97239 USA.
[Zuckerman, Katharine E.] Oregon Hlth & Sci Univ, Div Gen Pediat, Portland, OR 97239 USA.
[Lindly, Olivia J.] Oregon State Univ, Dept Publ Hlth, Corvallis, OR 97331 USA.
[Kuhlthau, Karen] Massachusetts Gen Hosp Children, Ctr Child & Adolescent Hlth Res & Policy, Boston, MA USA.
[Kuhlthau, Karen] Harvard Univ, Sch Med, Dept Pediat, Div Gen Pediat, Cambridge, MA 02138 USA.
RP Zuckerman, KE (reprint author), Oregon Hlth & Sci Univ, Mail Code CDRC P 707 SW Gaines Rd, Portland, OR 97239 USA.
EM zuckerma@ohsu.edu
FU National Institute of Mental Health Mentored Career Development Award
[K23MH095828]; Nancy Lurie Marks Foundation; US Department of Health and
Human Services, Health Resources and Services Administration, Maternal
and Child Health Bureau [1-U59-MC06980-01]
FX Supported in part by National Institute of Mental Health Mentored Career
Development Award K23MH095828 (Dr Zuckerman), the Nancy Lurie Marks
Foundation (Dr Kuhlthau), and Cooperative Agreement 1-U59-MC06980-01
from the US Department of Health and Human Services, Health Resources
and Services Administration, Maternal and Child Health Bureau (Dr
Bethell). The authors thank Julie Robertson, MPH, MSW, for assistance
with data analysis.
CR Allik H, 2006, HEALTH QUAL LIFE OUT, V4, DOI 10.1186/1477-7525-4-1
Almansour MA, 2013, NEUROSCIENCES, V18, P58
[Anonymous], 2012, MMWR SURVEILLENCE SU, V61, P1
Association of Maternal and Child Health Programs, 2012, AFF CAR ACT CHILDR Y
Bethell CD, 2002, AMBUL PEDIATR, V2, P38, DOI 10.1367/1539-4409(2002)002<0038:ICWSHC>2.0.CO;2
Blumberg S.J., 2013, NATL HLTH STAT REPOR, V65, P1
Boulet SL, 2009, ARCH PEDIAT ADOL MED, V163, P19, DOI 10.1001/archpediatrics.2008.506
Brachlow AE, 2007, ARCH PEDIAT ADOL MED, V161, P399, DOI 10.1001/archpedi.161.4.399
Bramlett MD, 2009, MATERN CHILD HLTH J, V13, P151, DOI 10.1007/s10995-008-0339-z
Bromley J, 2004, AUTISM, V8, P409, DOI 10.1177/1362361304047224
Carbone PS, 2009, J AUTISM DEV DISORD, V40, P317, DOI DOI 10.1007/S10803-009-0874-5
Centers for Disease Control and Prevention; National Center for Health Statistics, 2011, STAT LOC AR INT TEL
Davidoff AJ, 2004, PEDIATRICS, V114, P394, DOI 10.1542/peds.114.2.394
Duarte CS, 2005, AUTISM, V9, P416, DOI 10.1177/1362361305056081
Gadow KD, 2008, J AUTISM DEV DISORD, V38, P1710, DOI 10.1007/s10803-008-0556-8
Galbraith AA, 2005, HEALTH SERV RES, V40, P1722, DOI 10.1111/j.1475-6773.2005.00421.x
Ghandour RM, 2014, ACAD PEDIATR, V14, P92, DOI 10.1016/j.acap.2013.10.001
Glasgow RE, 2012, HEALTH AFFAIR, V31, P497, DOI 10.1377/hlthaff.2010.1295
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Houtrow AJ, 2011, ACAD PEDIATR, V11, P508, DOI 10.1016/j.acap.2011.08.004
Knapp C, 2013, MATERN CHILD HLTH J, V17, P1658, DOI 10.1007/s10995-012-1179-4
Kogan MD, 2008, PEDIATRICS, V122, pE1149, DOI 10.1542/peds.2008-1057
Kuhlthau K, 2010, MATERN CHILD HLTH J, V14, P155, DOI 10.1007/s10995-008-0434-1
Kuhlthau K, 2005, MATERN CHILD HLTH J, V9, P207, DOI 10.1007/s10995-005-4870-x
Lollar JD, 2012, PEDIATRICS, V129, pe714
Maglione Margaret A, 2012, Pediatrics, V130 Suppl 2, pS169, DOI 10.1542/peds.2012-0900O
McPherson M, 1998, PEDIATRICS, V102, P137, DOI 10.1542/peds.102.1.137
Montes G, 2008, PEDIATRICS, V122, pE202, DOI 10.1542/peds.2007-3037
Shattuck PT, 2006, PEDIATRICS, V117, P1028, DOI 10.1542/peds.2005-1516
Sikora Darryn M, 2012, Pediatrics, V130 Suppl 2, pS91, DOI 10.1542/peds.2012-0900G
Taylor JL, 2011, J AUTISM DEV DISORD, V41, P566, DOI 10.1007/s10803-010-1070-3
Thomas KC, 2012, MATERN CHILD HLTH J, V16, P1636, DOI 10.1007/s10995-011-0862-1
US Department of Health and Human Services, HLTH PEOPL 2020 MAT
Wazana A, 2007, J AM ACAD CHILD PSY, V46, P721, DOI 10.1097/chi.0b013e31804a7f3b
Wegner LM, 2009, PEDIATR ANN, V38, P57
NR 38
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1876-2859
EI 1876-2867
J9 ACAD PEDIATR
JI Acad. Pediatr.
PD JUL-AUG
PY 2014
VL 14
IS 4
BP 398
EP 407
PG 10
WC Pediatrics
SC Pediatrics
GA AL0OC
UT WOS:000338825200013
PM 24976352
ER
PT J
AU Broder-Fingert, S
Brazauskas, K
Lindgren, K
Iannuzzi, D
Van Cleave, J
AF Broder-Fingert, Sarabeth
Brazauskas, Karissa
Lindgren, Kristen
Iannuzzi, Dorothea
Van Cleave, Jeanne
TI Prevalence of Overweight and Obesity in a Large Clinical Sample of
Children With Autism
SO ACADEMIC PEDIATRICS
LA English
DT Article
DE autism; obesity; overweight
ID SPECTRUM DISORDERS; CHILDHOOD OBESITY; PHYSICAL-ACTIVITY; UNITED-STATES;
WEIGHT-GAIN; HEALTH; ADOLESCENTS; DISABILITIES; MEDICATIONS
AB BACKGROUND: Overweight and obesity are major pediatric public health problems in the United States; however, limited data exist on the prevalence and correlates of overnutrition in children with autism.
METHODS: Through a large integrated health care system's patient database, we identified 6672 children ages 2 to 20 years with an assigned ICD-9 code of autism (299.0), Asperger syndrome (299.8), and control subjects from 2008 to 2011 who had at least 1 weight and height recorded in the same visit. We calculated age-adjusted, sex-adjusted body mass index and classified children as overweight (body mass index 85th to 95th percentile) or obese (>= 95th percentile). We used multinomial logistic regression to compare the odds of overweight and obesity between groups. We then used logistic regression to evaluate factors associated with overweight and obesity in children with autism, including demographic and clinical characteristics.
RESULTS: Compared to control subjects, children with autism and Asperger syndrome had significantly higher odds of over-weight (odds ratio, 95% confidence interval: autism 2.24, 1.74-2.88; Asperger syndrome 1.49, 1.12-1.97) and obesity (autism 4.83, 3.85-6.06; Asperger syndrome 5.69, 4.50-7.21). Among children with autism, we found a higher odds of obesity in older children (aged 12-15 years 1.87, 1.33-2.63; aged 16-20 years 1.94, 1.39-2.71) compared to children aged 6 to 11 years. We also found higher odds of overweight and obesity in those with public insurance (overweight 1.54, 1.25-1.89; obese 1.16, 1.02-1.40) and with co-occurring sleep disorder (obese 1.23, 1.00-1.53).
CONCLUSIONS: Children with autism and Asperger syndrome had significantly higher odds of overweight and obesity than control subjects. Older age, public insurance, and co-occurring sleep disorder were associated with overweight or obesity in this population.
C1 [Broder-Fingert, Sarabeth; Iannuzzi, Dorothea; Van Cleave, Jeanne] Ctr Child & Adolescent Hlth Res & Policy, Div Gen Pediat, Boston, MA USA.
[Brazauskas, Karissa; Lindgren, Kristen] MassGen Hosp Children, Boston, MA USA.
RP Broder-Fingert, S (reprint author), MassGen Hosp Children, Ctr Child & Adolescent Hlth Res & Policy, Div Gen Pediat, 100 Cambridge St,Room 1542, Boston, MA 02114 USA.
EM sbroder-finger@partners.org
FU APA Resident Investigator Award
FX Supported in part by the APA Resident Investigator Award.
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Barnard L, 2002, J PSYCHOPHARMACOL, V16, P93
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Blumberg S. J., 2013, 65 NAT CTR HLTH STAT
Curtin C, 2014, HARVARD REV PSYCHIAT, V22, P93, DOI 10.1097/HRP.0000000000000031
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Phillips KL, MATERN CHIL IN PRESS
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Zuckerman KE, J AUSTISM D IN PRESS
NR 31
TC 1
Z9 1
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1876-2859
EI 1876-2867
J9 ACAD PEDIATR
JI Acad. Pediatr.
PD JUL-AUG
PY 2014
VL 14
IS 4
BP 408
EP 414
PG 7
WC Pediatrics
SC Pediatrics
GA AL0OC
UT WOS:000338825200014
PM 24976353
ER
PT J
AU Gentile, I
Zappulo, E
Bonavolta, R
Maresca, R
Messana, T
Buonomo, AR
Portella, G
Sorrentino, R
Settimi, A
Pascotto, A
Borgia, G
Bravaccio, C
AF Gentile, Ivan
Zappulo, Emanuela
Bonavolta, Raffaele
Maresca, Roberta
Messana, Tullio
Buonomo, Antonio Riccardo
Portella, Giuseppe
Sorrentino, Rosanna
Settimi, Alessandro
Pascotto, Antonio
Borgia, Guglielmo
Bravaccio, Carmela
TI Prevalence and Titre of Antibodies to Cytomegalovirus and Epstein-Barr
Virus in Patients with Autism Spectrum Disorder
SO IN VIVO
LA English
DT Article
DE Autism spectrum disorder; CMV; EBV; antibody titre
ID HERPES-SIMPLEX ENCEPHALITIS; MULTIPLE-SCLEROSIS; MATERNAL INFECTION;
INFANTILE-AUTISM; FETAL-BRAIN; VITAMIN-D; CHILDREN; ASSOCIATION;
RUBELLA; ACTIVATION
AB Background/Aim: The etiology of autism spectrum disorders (ASD) is currently unknown. Few studies have explored the role of Cytomegalovirus (CMV) and Epstein Barr Virus (EBV) as potential etiological factors of ASD. The aim of the present study was to evaluate the seropositivity rate and antibody titre to CMV and EBV in children with ASD compared to same-aged healthy controls. Patients and Methods: We compared the seropositivity rate and titre of antibodies to CMV and EBV in 54 children with ASD (19 with autistic disorder and 35 with non-autistic disorder ASD) and in 46 controls. Results: Seropositivity rate and titre of the two antibodies were not dissimilar between cases and controls. However, considering only patients with ASD, those seropositive for CMV tended to test worse to the major severity scales than the seronegative ones. Conclusion: Titre and seropositivity rate of antibodies to CMV and EBV are similar between children with ASD and healthy controls.
C1 [Gentile, Ivan; Zappulo, Emanuela; Buonomo, Antonio Riccardo; Borgia, Guglielmo] Univ Naples Federico II, Dept Clin Med & Surg, Infect Dis Sect, I-80131 Naples, Italy.
[Bonavolta, Raffaele; Portella, Giuseppe; Sorrentino, Rosanna; Settimi, Alessandro; Bravaccio, Carmela] Univ Naples Federico II, Dept Med Translat Sci, I-80131 Naples, Italy.
[Maresca, Roberta; Messana, Tullio; Pascotto, Antonio] Univ Naples 2, Naples, Italy.
RP Gentile, I (reprint author), Univ Naples Federico II, Dept Clin Med & Surg, Infect Dis Sect, Via S Pansini 5, I-80131 Naples, Italy.
EM ivan.gentile@unina.it
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
[Anonymous], 2012, MMWR SURVEILL SUMM, V61, P1
Ascherio A, 2010, J NEUROIMMUNE PHARM, V5, P271, DOI 10.1007/s11481-010-9201-3
Becker KG, 2010, MED HYPOTHESES, V74, P7, DOI 10.1016/j.mehy.2009.08.033
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Cannell JJ, 2008, MED HYPOTHESES, V70, P750, DOI 10.1016/j.mehy.2007.08.016
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Engel SM, 2011, EPIDEMIOLOGY, V22, P486, DOI 10.1097/EDE.0b013e31821daf1c
Eyles DW, 2012, FRONT NEUROENDOCRIN, V11, P11
FOWLER KB, 1992, NEW ENGL J MED, V326, P663, DOI 10.1056/NEJM199203053261003
Garbett KA, 2012, TRANSL PSYCHIAT, V2, DOI 10.1038/tp.2012.24
Gentile I, 2013, IN VIVO, V27, P377
Gentile I, 2010, BMC INFECT DIS, V10, DOI 10.1186/1471-2334-10-49
Gentile I, 2012, PLATELETS, V6, P6
Gentile I, 2013, IN VIVO, V27, P843
Gentile I, 2013, MED HYPOTHESES, V81, P26, DOI 10.1016/j.mehy.2013.04.002
Gentile I, 2014, VIVO IN PRESS
Gentile I, 2013, OPEN J PSYCHIAT, V3, P18
GHAZIUDDIN M, 1992, J AUTISM DEV DISORD, V22, P107, DOI 10.1007/BF01046406
GILLBERG C, 1986, J AUTISM DEV DISORD, V16, P369, DOI 10.1007/BF01531665
Grant William B, 2009, Dermatoendocrinol, V1, P223
Griffiths R, 2006, GDMS GRIFFITHS MENTA
IVARSSON SA, 1990, NEUROPEDIATRICS, V21, P102, DOI 10.1055/s-2008-1071471
Jankosky C, 2012, VIRUS RES, V163, P424, DOI 10.1016/j.virusres.2011.11.010
JORGENSEN OS, 1982, ACTA PSYCHIAT SCAND, V66, P42, DOI 10.1111/j.1600-0447.1982.tb00913.x
Kawashti Maha I S, 2006, Egypt J Immunol, V13, P99
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King CR, 2011, MED HYPOTHESES, V76, P653, DOI 10.1016/j.mehy.2011.01.024
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Singh VK, 2002, J BIOMED SCI, V9, P359, DOI 10.1159/000065007
Sparrow S, 1984, VINELAND ADAPTIVE BE
STAGNO S, 1985, NEW ENGL J MED, V313, P1270, DOI 10.1056/NEJM198511143132006
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NR 57
TC 1
Z9 1
PU INT INST ANTICANCER RESEARCH
PI ATHENS
PA EDITORIAL OFFICE 1ST KM KAPANDRITIOU-KALAMOU RD KAPANDRITI, PO BOX 22,
ATHENS 19014, GREECE
SN 0258-851X
EI 1791-7549
J9 IN VIVO
JI In Vivo
PD JUL-AUG
PY 2014
VL 28
IS 4
BP 621
EP 626
PG 6
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AK9VU
UT WOS:000338777500028
PM 24982232
ER
PT J
AU Gentile, I
Zappulo, E
Bonavolta, R
Maresca, R
Riccio, MP
Buonomo, AR
Portella, G
Settimi, A
Pascotto, A
Borgia, G
Bravaccio, C
AF Gentile, Ivan
Zappulo, Emanuela
Bonavolta, Raffaele
Maresca, Roberta
Riccio, Maria Pia
Buonomo, Antonio Riccardo
Portella, Giuseppe
Settimi, Alessandro
Pascotto, Antonio
Borgia, Guglielmo
Bravaccio, Carmela
TI Exposure to Varicella Zoster Virus Is Higher in Children with Autism
Spectrum Disorder than in Healthy Controls. Results from a Case-control
Study
SO IN VIVO
LA English
DT Article
DE Autism spectrum disorder; etiopathogenesis; prevalence; titre; VZV
ID CONGENITAL CYTOMEGALOVIRUS-INFECTION; HERPES-SIMPLEX ENCEPHALITIS;
MATERNAL IMMUNE ACTIVATION; VITAMIN-D; RISK-FACTORS; FETAL-BRAIN;
ASSOCIATION; ANTIBODIES; EXPRESSION; SYMPTOMS
AB Background/Aim: Autism spectrum disorder (ASD) is a group of central nervous system disorders lacking a definite etiology. The aim of the present study was to compare the exposure rate and titer of antibodies to Varicella Zoster Virus (VZV) in children with ASD and in healthy controls. Patients and Methods: We enrolled 54 children with ASD and 46 control individuals. Results: The exposure rate and titer of anti-VZV antibodies were significantly higher in children with ASD compared to controls (59% vs. 39% and 694 mIU/ml vs. 94 mIU/ml, respectively). Conclusion: In the present case-control study, exposure to VZV was found to be independently associated with ASD.
C1 [Gentile, Ivan; Zappulo, Emanuela; Buonomo, Antonio Riccardo; Borgia, Guglielmo] Univ Naples Federico II, Infect Dis Sect, Dept Clin Med & Surg, I-80131 Naples, Italy.
[Bonavolta, Raffaele; Portella, Giuseppe; Settimi, Alessandro; Bravaccio, Carmela] Univ Naples Federico II, Dept Med Translat Sci, I-80131 Naples, Italy.
[Maresca, Roberta; Riccio, Maria Pia; Pascotto, Antonio] Univ Naples 2, Naples, Italy.
RP Gentile, I (reprint author), Univ Naples Federico II, Infect Dis Sect, Dept Clin Med & Surg, Via S Pansini 5, I-80131 Naples, Italy.
EM ivan.gentile@unina.it
CR American Psychiatric Association, 2000, DIAG STAT MAN MENT D
American Psychiatric Association, 2013, DIAG STAT MAN MENT D
ANLAR B, 1994, J CHILD NEUROL, V9, P104
Autism and Developmental Disabilities Monitoring Network Surveillance Principal Investigators, 2012, MMWR SURVEILL SUMM, V61, P1
Benvenuto A, 2009, WORLD J PEDIATR, V5, P169, DOI 10.1007/s12519-009-0033-2
Cannell JJ, 2008, MED HYPOTHESES, V70, P750, DOI 10.1016/j.mehy.2007.08.016
CHESS S, 1971, J AUTISM CHILD SCHIZ, V1, P33, DOI 10.1007/BF01537741
Comi AM, 1999, J CHILD NEUROL, V14, P388, DOI 10.1177/088307389901400608
DELONG GR, 1981, ARCH NEUROL-CHICAGO, V38, P191
Desmond MM, 1970, ADV TERATOL, V4, P39
DEYKIN EY, 1979, AM J EPIDEMIOL, V109, P628
Dogan Y, 2011, FETAL DIAGN THER, V30, P141, DOI 10.1159/000330636
Engel SM, 2011, EPIDEMIOLOGY, V22, P486, DOI 10.1097/EDE.0b013e31821daf1c
Eyles DW, 2012, FRONT NEUROENDOCRIN, V11, P11
FOWLER KB, 1992, NEW ENGL J MED, V326, P663, DOI 10.1056/NEJM199203053261003
Garbett KA, 2012, TRANSL PSYCHIAT, V2, DOI 10.1038/tp.2012.24
Gentile I, 2013, IN VIVO, V27, P377
Gentile I, 2010, BMC INFECT DIS, V10, DOI 10.1186/1471-2334-10-49
Gentile I, 2013, IN VIVO, V27, P843
Gentile I, 2013, PLATELETS, V24, P574, DOI 10.3109/09537104.2012.735721
Gentile I, 2013, J PSYCHIAT, V3, P18
Gentile I, 2013, MED HYPOTHESES, V81, P26, DOI 10.1016/j.mehy.2013.04.002
GHAZIUDDIN M, 1992, J AUTISM DEV DISORD, V22, P107, DOI 10.1007/BF01046406
GILLBERG C, 1986, J AUTISM DEV DISORD, V16, P369, DOI 10.1007/BF01531665
Grant William B, 2009, Dermatoendocrinol, V1, P223
Gregg NM, 1991, AUST NZ J OPHTHALMOL, V19, P267
Griffiths R, 2006, GDMS GRIFFITHS MENTA
IVARSSON SA, 1990, NEUROPEDIATRICS, V21, P102, DOI 10.1055/s-2008-1071471
Jankosky C, 2012, VIRUS RES, V163, P424, DOI 10.1016/j.virusres.2011.11.010
JORGENSEN OS, 1982, ACTA PSYCHIAT SCAND, V66, P42, DOI 10.1111/j.1600-0447.1982.tb00913.x
Jyonouchi H, 2001, J NEUROIMMUNOL, V120, P170, DOI 10.1016/S0165-5728(01)00421-0
Kawashti Maha I S, 2006, Egypt J Immunol, V13, P99
Kawatani M, 2010, PEDIATR INT, V52, P304, DOI 10.1111/j.1442-200X.2010.03027.x
Keil A, 2010, EPIDEMIOLOGY, V21, P805, DOI 10.1097/EDE.0b013e3181f26e3f
King CR, 2011, MED HYPOTHESES, V76, P653, DOI 10.1016/j.mehy.2011.01.024
Kitajima J, 2012, PEDIATR DEVEL PATHOL, V15, P151, DOI 10.2350/11-05-1034-CR.1
Kuhn M, 2012, MED HYPOTHESES, V78, P606, DOI 10.1016/j.mehy.2012.01.037
Libbey JE, 2005, J NEUROVIROL, V11, P1, DOI 10.1080/13550280590900553
LORD C, 1994, J AUTISM DEV DISORD, V24, P659, DOI 10.1007/BF02172145
Lord C, 2000, J AUTISM DEV DISORD, V30, P205, DOI 10.1023/A:1005592401947
Malkova NV, 2012, BRAIN BEHAV IMMUN, V26, P607, DOI 10.1016/j.bbi.2012.01.011
MARKOWITZ PI, 1983, J AUTISM DEV DISORD, V13, P249, DOI 10.1007/BF01531564
Meguid NA, 2010, J ALTERN COMPLEM MED, V16, P641, DOI 10.1089/acm.2009.0349
Molloy CA, 2010, DEV MED CHILD NEUROL, V52, P969, DOI 10.1111/j.1469-8749.2010.03704.x
Mora M, 2009, INVEST CLIN, V50, P315
Patterson PH, 2002, CURR OPIN NEUROBIOL, V12, P115, DOI 10.1016/S0959-4388(02)00299-4
Persico AM, 2010, J NEUROVIROL, V16, P332, DOI 10.3109/13550284.2010.504765
Persico AM, 2012, AUTISM RES TREAT, V2012, P2
Schopler E., 1988, CHILDHOOD AUTISM RAT
Singh VK, 2009, ANN CLIN PSYCHIATRY, V21, P148
Singh VK, 1998, CLIN IMMUNOL IMMUNOP, V89, P105, DOI 10.1006/clin.1998.4588
Siniscalco D, 2012, J AUTISM DEV DISORD, V42, P1403, DOI 10.1007/s10803-011-1373-z
Sparrow S, 1984, VINELAND ADAPTIVE BE
STAGNO S, 1985, NEW ENGL J MED, V313, P1270, DOI 10.1056/NEJM198511143132006
STUBBS EG, 1978, J AUTISM CHILD SCHIZ, V8, P37, DOI 10.1007/BF01550276
Sweeten TL, 2004, J AUTISM DEV DISORD, V34, P583, DOI 10.1007/s10803-004-2552-y
Taylor B, 2013, BMJ OPEN, V3, DOI 10.1136/bmjopen-2013-003219
Yamashita Y, 2003, J AUTISM DEV DISORD, V33, P455, DOI 10.1023/A:1025023131029
NR 58
TC 0
Z9 0
PU INT INST ANTICANCER RESEARCH
PI ATHENS
PA EDITORIAL OFFICE 1ST KM KAPANDRITIOU-KALAMOU RD KAPANDRITI, PO BOX 22,
ATHENS 19014, GREECE
SN 0258-851X
EI 1791-7549
J9 IN VIVO
JI In Vivo
PD JUL-AUG
PY 2014
VL 28
IS 4
BP 627
EP 631
PG 5
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AK9VU
UT WOS:000338777500029
PM 24982233
ER
PT J
AU Gentile, I
Zappulo, E
Bonavolta, R
Maresca, R
Riccio, MP
Buonomo, AR
Portella, G
Vallefuoco, L
Settimi, A
Pascotto, A
Borgia, G
Bravaccio, C
AF Gentile, Ivan
Zappulo, Emanuela
Bonavolta, Raffaele
Maresca, Roberta
Riccio, Maria Pia
Buonomo, Antonio Riccardo
Portella, Giuseppe
Vallefuoco, Luca
Settimi, Alessandro
Pascotto, Antonio
Borgia, Guglielmo
Bravaccio, Carmela
TI Prevalence of Herpes Simplex Virus 1 and 2 Antibodies in Patients with
Autism Spectrum Disorders
SO IN VIVO
LA English
DT Article
DE Autism spectrum disorder; etiopathogenesis; HSV1; HSV2
ID EPSTEIN-BARR-VIRUS; ENCEPHALITIS; INFECTION; CHILDREN; BRAIN;
ASSOCIATION; DEFICITS; GENES; ONSET
AB Background/Aim: The etiology of autism spectrum disorder (ASD) is unknown, even though it is hypothesized that a viral infection could trigger this disorder. The aim of this study was to evaluate the seropositivity rate and antibody level of Herpes Simplex Virus 1 (HSV1) and Herpes Simplex Virus 2 (HSV2) in children with ASD compared to same-aged healthy controls. Patients and Methods: We compared seropositivity rate and levels of antibodies to HSV1/2 in 54 children with ASD (19 with autistic disorder and 35 with non-autistic ASD) and in 46 controls. Results: Seropositivity rate and levels of anti-HSV1/2 were not dissimilar between cases and controls. Exposure to HSV2 was minimal. Conclusion: Rate of contact with HSV1 and HSV2 assessed by the mean of detection of specific antibodies was similar between children with ASD and healthy controls.
C1 [Gentile, Ivan; Zappulo, Emanuela; Buonomo, Antonio Riccardo; Borgia, Guglielmo] Univ Naples Federico II, Infect Dis Sect, Dept Clin Med & Surg, I-80131 Naples, Italy.
[Bonavolta, Raffaele; Portella, Giuseppe; Vallefuoco, Luca; Settimi, Alessandro; Bravaccio, Carmela] Univ Naples Federico II, Dept Med Translat Sci, I-80131 Naples, Italy.
[Maresca, Roberta; Riccio, Maria Pia; Pascotto, Antonio] Univ Naples 2, Naples, Italy.
RP Gentile, I (reprint author), Univ Naples Federico II, Infect Dis Sect, Dept Clin Med & Surg, Via S Pansini 5, I-80131 Naples, Italy.
EM ivan.gentile@unina.it
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Autism and Developmental Disabilities Monitoring Network Surveillance Year 2008 Principal Investigators Centers for Disease Control and Prevention, 2012, MMWR SURVEILL SUMM, V61, P1
Benvenuto A, 2009, WORLD J PEDIATR, V5, P169, DOI 10.1007/s12519-009-0033-2
Cannell JJ, 2008, MED HYPOTHESES, V70, P750, DOI 10.1016/j.mehy.2007.08.016
Carter CJ, 2013, PATHOG DIS, V69, P240, DOI 10.1111/2049-632X.12077
DELONG GR, 1981, ARCH NEUROL-CHICAGO, V38, P191
Engel SM, 2011, EPIDEMIOLOGY, V22, P486, DOI 10.1097/EDE.0b013e31821daf1c
Frustaci A, 2012, FREE RADICAL BIO MED, V52, P2128, DOI 10.1016/j.freeradbiomed.2012.03.011
Garbett KA, 2012, TRANSL PSYCHIAT, V2, DOI 10.1038/tp.2012.24
Gentile I, 2013, IN VIVO, V27, P377
Gentile I, 2010, BMC INFECT DIS, V10, DOI 10.1186/1471-2334-10-49
Gentile I, 2013, IN VIVO, V27, P843
Gentile I, 2013, PLATELETS, V24, P574, DOI 10.3109/09537104.2012.735721
Gentile I, 2013, MED HYPOTHESES, V81, P26, DOI 10.1016/j.mehy.2013.04.002
Gentile I, 2013, OPEN J PSYCHIAT, V3, P18
GHAZIUDDIN M, 1992, J AUTISM DEV DISORD, V22, P107, DOI 10.1007/BF01046406
GILLBERG C, 1986, J AUTISM DEV DISORD, V16, P369, DOI 10.1007/BF01531665
GILLBERG IC, 1991, DEV MED CHILD NEUROL, V33, P920
GREER MK, 1989, J AUTISM DEV DISORD, V19, P317, DOI 10.1007/BF02211849
Griffiths R, 2006, GDMS GRIFFITHS MENTA
JORGENSEN OS, 1982, ACTA PSYCHIAT SCAND, V66, P42, DOI 10.1111/j.1600-0447.1982.tb00913.x
Lintas C, 2010, J NEUROVIROL, V16, P141, DOI 10.3109/13550281003685839
LORD C, 1994, J AUTISM DEV DISORD, V24, P659, DOI 10.1007/BF02172145
Lord C, 2000, J AUTISM DEV DISORD, V30, P205, DOI 10.1023/A:1005592401947
Mora M, 2009, INVEST CLIN, V50, P315
Schopler E., 1988, CHILDHOOD AUTISM RAT
Shi LM, 2003, J NEUROSCI, V23, P297
Singh VK, 1998, CLIN IMMUNOL IMMUNOP, V89, P105, DOI 10.1006/clin.1998.4588
Singh VK, 2002, J BIOMED SCI, V9, P359, DOI 10.1159/000065007
Sparrow S, 1984, VINELAND ADAPTIVE BE
STAGNO S, 1985, NEW ENGL J MED, V313, P1270, DOI 10.1056/NEJM198511143132006
Sundstrom P, 2004, NEUROLOGY, V62, P2277
Taylor B, 2013, BMJ OPEN, V3, P2013
NR 34
TC 0
Z9 0
PU INT INST ANTICANCER RESEARCH
PI ATHENS
PA EDITORIAL OFFICE 1ST KM KAPANDRITIOU-KALAMOU RD KAPANDRITI, PO BOX 22,
ATHENS 19014, GREECE
SN 0258-851X
EI 1791-7549
J9 IN VIVO
JI In Vivo
PD JUL-AUG
PY 2014
VL 28
IS 4
BP 667
EP 671
PG 5
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AK9VU
UT WOS:000338777500035
PM 24982239
ER
PT J
AU Atkinson, MA
Simpson, A
Skarratt, PA
Cole, GG
AF Atkinson, Mark A.
Simpson, Andrew
Skarratt, Paul A.
Cole, Geoff G.
TI Is social inhibition of return due to action co-representation?
SO ACTA PSYCHOLOGICA
LA English
DT Article
DE Social IOR; Joint action; Social attention; Biological motion; Objects;
Co-representation
ID OBJECT-CENTERED INHIBITION; INFLUENCE FREDS ACTION; VISUAL-ATTENTION;
SELECTIVE ATTENTION; POINTING MOVEMENTS; OTHERS ACTIONS; REACTION-TIME;
MOTOR; AUTISM; GAZE
AB When two individuals alternate reaching responses to visual targets presented on a shared workspace, one individual is slower to respond to targets occupying the same position as their partner's previous response. This phenomenon is thought to be due to processes that inhibit the initiation of a movement to a location recently acted upon. However, two distinct forms of the inhibition account have been posited, one based on inhibition of an action, the other based on inhibition of an action and location. Furthermore, an additional recent explanation suggests the phenomenon is due to mechanisms that give rise to action congruency effects. Thus the three different theories differ in the degree to which action co-representation plays a role in the effect. The aim of the present work was to examine these competing accounts. Three experiments demonstrated that when identical actions are made, the effect is modulated by the configuration of the visual stimuli acted upon and the perceptual demands of the task. In addition, when the co-actors perform different actions to the same target, the effect is still observed. These findings support the hypothesis that this particular joint action phenomenon is generated via social cues that induce location-based inhibition of return rather than being due to shared motor co-representations. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Atkinson, Mark A.; Simpson, Andrew; Cole, Geoff G.] Univ Essex, Ctr Brain Sci, Colchester CO4 3SQ, Essex, England.
[Skarratt, Paul A.] Univ Hull, Dept Psychol, Kingston Upon Hull HU6 7RX, N Humberside, England.
RP Atkinson, MA (reprint author), Univ Essex, Ctr Brain Sci, Wivenhoe Pk, Colchester CO4 3SQ, Essex, England.
EM matkinb@essex.ac.uk; ggcole@essex.ac.uk
CR Atmaca S, 2008, SOC NEUROSCI, V3, P410, DOI 10.1080/17470910801900908
Atmaca S., 2011, EXPT BRAIN RES, P1
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NR 66
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0001-6918
EI 1873-6297
J9 ACTA PSYCHOL
JI Acta Psychol.
PD JUL
PY 2014
VL 150
BP 85
EP 93
DI 10.1016/j.actpsy.2014.04.003
PG 9
WC Psychology, Experimental
SC Psychology
GA AL0IU
UT WOS:000338811400011
PM 24859672
ER
PT J
AU Zhao, S
Uono, S
Yoshimura, S
Toichi, M
AF Zhao, Shuo
Uono, Shota
Yoshimura, Sayaka
Toichi, Motomi
TI Attention orienting by eye gaze and arrows reveals flexibility to
environmental changes
SO ACTA PSYCHOLOGICA
LA English
DT Article
DE Orienting attention; Gaze; Arrow; Environmental changes
ID HIGH-FUNCTIONING AUTISM; JOINT ATTENTION; CUES; CHILDREN; SPECTRUM;
PERCEPTION; DIRECTION; MOVEMENT; CONTEXT; SOUND
AB This study aimed to evaluate the difference in non-predictive cues between gaze and arrows in attention orienting. Attention orienting was investigated with gaze or arrows as separate cues in a simple condition (i.e., block design) in Experiment 1 and in an unpredictable condition (i.e., randomized design) in Experiment 2. Two kinds of sound (voice and tone) stimuli were used as targets. Results showed that gaze and arrow cues induced enhanced attention orienting to a voice versus tone target in the block condition. However, in the randomized condition, enhanced attention orienting to a voice versus tone target was found in gaze but not arrow cues. The congruency of the meaning between a social cue (i.e., gaze) and a social target (i.e., voice) was clear in the randomized but not blocked design, because social gaze and non-social arrow cues were implemented in the same block. Thus, attention orienting might be mediated by the associated relationship of cue-target in a randomized condition, as an enhanced orienting effect was found when the associated relationship of cue-target was strong (i.e., social cue and target). The present study suggests that the difference in attention orienting between gaze and arrows is apparent in a randomized design (the unpredictable condition), and people employ a flexibly strategy of orienting to better respond to environmental changes. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Zhao, Shuo; Uono, Shota; Toichi, Motomi] Kyoto Univ, Grad Sch Med, Sch Hlth Sci, Kyoto 6068507, Japan.
[Yoshimura, Sayaka] Kyoto Univ, Grad Sch Med, Dept Psychiat, Kyoto 6068507, Japan.
[Zhao, Shuo; Toichi, Motomi] Org Promoting Dev Disorder Res, Kyoto 6068507, Japan.
RP Zhao, S (reprint author), Kyoto Univ, Grad Sch Med, Sch Hlth Sci, Sakyo Ku, 53 Shogoin Kawahara Cho, Kyoto 6068507, Japan.
EM zhaoshuo09@gmail.com
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NR 31
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0001-6918
EI 1873-6297
J9 ACTA PSYCHOL
JI Acta Psychol.
PD JUL
PY 2014
VL 150
BP 100
EP 105
DI 10.1016/j.actpsy.2014.05.003
PG 6
WC Psychology, Experimental
SC Psychology
GA AL0IU
UT WOS:000338811400013
PM 24866453
ER
PT J
AU Opris, I
Casanova, MF
AF Opris, Ioan
Casanova, Manuel F.
TI Prefrontal cortical minicolumn: from executive control to disrupted
cognitive processing
SO BRAIN
LA English
DT Review
DE prefrontal cortex; interlaminar microcircuit; minicolumn; executive
function; autism
ID ANTERIOR CINGULATE CORTEX; AUTISM SPECTRUM DISORDERS; SOMATIC SENSORY
CORTEX; MEDIAL-FRONTAL-CORTEX; MONKEY STRIATE CORTEX; WORKING-MEMORY;
COLUMNAR ORGANIZATION; ORIENTATION COLUMNS; ALZHEIMERS-DISEASE;
NONHUMAN-PRIMATES
AB The emergence of higher cognitive functions stems from the modular architecture of cerebral cortex. Opris and Casanova review evidence from anatomical, electrophysiological and pathological perspectives on the role of cortical minicolumns in normal and disrupted cognitive processing. Inter-laminar microcircuits are required for the processing of executive control signals.The prefrontal cortex of the primate brain has a modular architecture based on the aggregation of neurons in minicolumnar arrangements having afferent and efferent connections distributed across many brain regions to represent, select and/or maintain behavioural goals and executive commands. Prefrontal cortical microcircuits are assumed to play a key role in the perception to action cycle that integrates relevant information about environment, and then selects and enacts behavioural responses. Thus, neurons within the interlaminar microcircuits participate in various functional states requiring the integration of signals across cortical layers and the selection of executive variables. Recent research suggests that executive abilities emerge from cortico-cortical interactions between interlaminar prefrontal cortical microcircuits, whereas their disruption is involved in a broad spectrum of neurologic and psychiatric disorders such as autism, schizophrenia, Alzheimer's and drug addiction. The focus of this review is on the structural, functional and pathological approaches involving cortical minicolumns. Based on recent technological progress it has been demonstrated that microstimulation of infragranular cortical layers with patterns of microcurrents derived from supragranular layers led to an increase in cognitive performance. This suggests that interlaminar prefrontal cortical microcircuits are playing a causal role in improving cognitive performance. An important reason for the new interest in cortical modularity comes from both the impressive progress in understanding anatomical, physiological and pathological facets of cortical microcircuits and the promise of neural prosthetics for patients with neurological and psychiatric disorders.
C1 [Opris, Ioan] Wake Forest Univ Hlth Sci, Dept Physiol & Pharmacol, Winston Salem, NC USA.
[Casanova, Manuel F.] Univ Louisville, Dept Psychiat & Behav Sci, Louisville, KY 40292 USA.
RP Opris, I (reprint author), Wake Forest Univ, Bowman Gray Sch Med, Dept Physiol & Pharmacol, Med Ctr Blvd, Winston Salem, NC 27157 USA.
EM ioopris@wfubmc.edu
FU NIH [R01 HD-65279]
FX Financial support for this work was derived from NIH grant R01 HD-65279
(MFC).
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NR 111
TC 5
Z9 5
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 JUL
PY 2014
VL 137
BP 1863
EP 1875
DI 10.1093/brain/awt359
PN 7
PG 13
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AK7ZL
UT WOS:000338646800014
PM 24531625
ER
PT J
AU Chandrasekaran, B
Skoe, E
Kraus, N
AF Chandrasekaran, Bharath
Skoe, Erika
Kraus, Nina
TI An Integrative Model of Subcortical Auditory Plasticity
SO BRAIN TOPOGRAPHY
LA English
DT Review
DE Predictive coding; ABR; Stimulus-specific adaptation; Auditory;
Plasticity
ID STIMULUS-SPECIFIC ADAPTATION; IN-NOISE PERCEPTION; FREQUENCY-FOLLOWING
RESPONSES; HUMAN BRAIN-STEM; HUMAN INFERIOR COLLICULUS; AUTISM SPECTRUM
DISORDERS; MISMATCH NEGATIVITY; CORTICOFUGAL MODULATION; NEURAL
REPRESENTATION; SELECTIVE ATTENTION
AB In direct conflict with the concept of auditory brainstem nuclei as passive relay stations for behaviorally-relevant signals, recent studies have demonstrated plasticity of the auditory signal in the brainstem. In this paper we provide an overview of the forms of plasticity evidenced in subcortical auditory regions. We posit an integrative model of auditory plasticity, which argues for a continuous, online modulation of bottom-up signals via corticofugal pathways, based on an algorithm that anticipates and updates incoming stimulus regularities. We discuss the negative implications of plasticity in clinical dysfunction and propose novel methods of eliciting brainstem responses that could specify the biological nature of auditory processing deficits.
C1 [Chandrasekaran, Bharath] Univ Texas Austin, Inst Neurosci, Ctr Perceptual Syst, Dept Commun Sci & Disorders, Austin, TX 78712 USA.
[Skoe, Erika] Univ Connecticut, Dept Psychol, Dept Speech Language & Hearing Sci, Storrs, CT USA.
[Skoe, Erika] Univ Connecticut, Cognit Sci Program, Storrs, CT USA.
[Kraus, Nina] Northwestern Univ, Dept Commun Sci, Auditory Neurosci Lab, Evanston, IL USA.
[Kraus, Nina] Northwestern Univ, Dept Neurobiol Physiol & Otolaryngol, Evanston, IL USA.
RP Chandrasekaran, B (reprint author), Univ Texas Austin, Inst Neurosci, Ctr Perceptual Syst, Dept Commun Sci & Disorders, Austin, TX 78712 USA.
EM bchandra@utexas.edu; erika.skoe@uconn.edu
FU National Institute on Deafness and Other Communication Disorders [R01
DC008333]
FX The authors would like to thank members of the SoundBrain Lab and the
Auditory Neuroscience Lab for their valuable comments on an earlier
version of the manuscript. This work was supported by National Institute
on Deafness and Other Communication Disorders Grant R01 DC008333.
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NR 135
TC 0
Z9 0
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0896-0267
EI 1573-6792
J9 BRAIN TOPOGR
JI Brain Topogr.
PD JUL
PY 2014
VL 27
IS 4
SI SI
BP 539
EP 552
DI 10.1007/s10548-013-0323-9
PG 14
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AK9BS
UT WOS:000338723100009
PM 24150692
ER
PT J
AU Biscaldi, M
Rauh, R
Irion, L
Jung, NH
Mall, V
Fleischhaker, C
Klein, C
AF Biscaldi, Monica
Rauh, Reinhold
Irion, Lisa
Jung, Nikolai H.
Mall, Volker
Fleischhaker, Christian
Klein, Christoph
TI Deficits in motor abilities and developmental fractionation of imitation
performance in high-functioning autism spectrum disorders
SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
LA English
DT Article
DE Autism spectrum disorders; Neuromotor deficit; Zurich Neuromotor
Assessment; Imitation; Non-meaningful gestures
ID MIRROR NEURON SYSTEM; ASPERGER-SYNDROME; NEUROMOTOR DEVELOPMENT;
DIAGNOSTIC INTERVIEW; GERMAN FORM; CHILDREN; RELIABILITY; DYSFUNCTION;
IMPAIRMENT; CEREBELLUM
AB The co-occurrence of motor and imitation disabilities often characterises the spectrum of deficits seen in patients with autism spectrum disorders (ASD). Whether these seemingly separate deficits are inter-related and whether, in particular, motor deficits contribute to the expression of imitation deficits is the topic of the present study and was investigated by comparing these deficits' cross-sectional developmental trajectories. To that end, different components of motor performance assessed in the Zurich Neuromotor Assessment and imitation abilities for facial movements and non-meaningful gestures were tested in 70 subjects (aged 6-29 years), including 36 patients with high-functioning ASD and 34 age-matched typically developed (TD) participants. The results show robust deficits in probands with ASD in timed motor performance and in the quality of movement, which are all independent of age, with one exception. Only diadochokinesis improves moderately with increasing age in ASD probands. Imitation of facial movements and of non-meaningful hand, finger, hand finger gestures not related to social context or tool use is also impaired in ASD subjects, but in contrast to motor performance this deficit overall improves with age. A general imitation factor, extracted from the highly inter-correlated imitation tests, is differentially correlated with components of neuromotor performance in ASD and TD participants. By developmentally fractionating developmentally stable motor deficits from developmentally dynamic imitation deficits, we infer that imitation deficits are primarily cognitive in nature.
C1 [Biscaldi, Monica; Rauh, Reinhold; Irion, Lisa; Fleischhaker, Christian; Klein, Christoph] Univ Freiburg, Dept Child & Adolescent Psychiat & Psychotherapy, D-79104 Freiburg, Germany.
[Jung, Nikolai H.; Mall, Volker] Tech Univ Munich, Dept Paediat, D-80290 Munich, Germany.
[Klein, Christoph] Bangor Univ, Sch Psychol, Bangor, Gwynedd, Wales.
RP Biscaldi, M (reprint author), Univ Freiburg, Dept Child & Adolescent Psychiat & Psychotherapy, Hauptstr 8, D-79104 Freiburg, Germany.
EM monica.biscaldi-schaefer@uniklinik-freiburg.de
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NR 67
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1018-8827
EI 1435-165X
J9 EUR CHILD ADOLES PSY
JI Eur. Child Adolesc. Psych.
PD JUL
PY 2014
VL 23
IS 7
BP 599
EP 610
DI 10.1007/s00787-013-0475-x
PG 12
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AK9QG
UT WOS:000338761100010
PM 24085467
ER
PT J
AU Mergy, MA
Gowrishankar, R
Davis, GL
Jessen, TN
Wright, J
Stanwood, GD
Hahn, MK
Blakely, RD
AF Mergy, Marc A.
Gowrishankar, Raajaram
Davis, Gwynne L.
Jessen, Tammy N.
Wright, Jane
Stanwood, Gregg D.
Hahn, Maureen K.
Blakely, Randy D.
TI Genetic targeting of the amphetamine and methylphenidate-sensitive
dopamine transporter: On the path to an animal model of
attention-deficit hyperactivity disorder
SO NEUROCHEMISTRY INTERNATIONAL
LA English
DT Review
DE ADHD; Dopamine; Transporter; Transgenic; Mouse; Animal model
ID AUTISM SPECTRUM DISORDER; SPONTANEOUSLY HYPERTENSIVE-RATS; COMORBIDITY
SURVEY REPLICATION; EMISSION COMPUTED-TOMOGRAPHY;
DEFICIT/HYPERACTIVITY-DISORDER; LOCOMOTOR-ACTIVITY; SUSTAINED ATTENTION;
PREPULSE INHIBITION; RESPONSE-INHIBITION; NUCLEUS-ACCUMBENS
AB Alterations in dopamine (DA) signaling underlie the most widely held theories of molecular and circuit level perturbations that lead to risk for attention-deficit hyperactivity disorder (ADHD). The DA transporter (DAT), a presynaptic reuptake protein whose activity provides critical support for DA signaling by limiting DA action at pre- and postsynaptic receptors, has been consistently associated with ADHD through pharmacological, behavioral, brain imaging and genetic studies. Currently, the animal models of ADHD exhibit significant limitations, stemming in large part from their lack of construct validity. To remedy this situation, we have pursued the creation of a mouse model derived from a functional nonsynonymous variant in the DAT gene (SLC6A3) of ADHD probands. We trace our path from the identification of these variants to in vitro biochemical and physiological studies to the production of the DAT Val559 mouse model. We discuss our initial findings with these animals and their promise in the context of existing rodent models of ADHD. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Mergy, Marc A.; Gowrishankar, Raajaram; Davis, Gwynne L.; Jessen, Tammy N.; Wright, Jane; Stanwood, Gregg D.; Blakely, Randy D.] Vanderbilt Univ, Sch Med, Dept Pharmacol, Nashville, TN 37232 USA.
[Hahn, Maureen K.] Vanderbilt Univ, Sch Med, Dept Med, Nashville, TN 37232 USA.
[Blakely, Randy D.] Vanderbilt Univ, Sch Med, Dept Psychiat, Nashville, TN 37232 USA.
RP Blakely, RD (reprint author), Vanderbilt Univ, Sch Med, Vanderbilt Brain Inst, Suite 7140 MRB3, Nashville, TN 37232 USA.
EM randy.blakely@vanderbilt.edu
FU NIH [MH090738, DA07390, MH073159]
FX This work was supported by NIH Awards MH090738 (M.A.M.), DA07390
(R.D.B.) and MH073159 (R.D.B.). We thank the outstanding laboratory
support of Chris Svitek, Qiao Han, Sarah Whitaker, Tracy Moore-Jarrett
and Angela Steele.
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TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
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J9 NEUROCHEM INT
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PD JUL
PY 2014
VL 73
SI SI
BP 56
EP 70
DI 10.1016/j.neuint.2013.11.009
PG 15
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AL0FW
UT WOS:000338803800008
PM 24332984
ER
PT J
AU Saunders, C
Siuta, M
Robertson, SD
Davis, AR
Sauer, J
Matthies, HJG
Gresch, PJ
Airey, DC
Lindsley, CW
Schetz, JA
Niswender, KD
Veenstra-Vanderweele, JM
Galli, A
AF Saunders, Christine
Siuta, Michael
Robertson, Sabrina D.
Davis, Adeola R.
Sauer, Jennifer
Matthies, Heinrich J. G.
Gresch, Paul J.
Airey, David C.
Lindsley, Craig W.
Schetz, John A.
Niswender, Kevin D.
Veenstra-Vanderweele, Jeremy M.
Galli, Aurelio
TI Neuronal ablation of p-Akt at Ser473 leads to altered 5-HT1A/2A receptor
function
SO NEUROCHEMISTRY INTERNATIONAL
LA English
DT Article
DE Serotonin; Akt; Cortex; 5HT(1A) receptor; 5HT(2A) receptor
ID SEROTONIN 2A RECEPTOR; NOREPINEPHRINE TRANSPORTER TRAFFICKING;
POSITRON-EMISSION-TOMOGRAPHY; HEAD-TWITCH RESPONSE; DOPAMINE
TRANSPORTER; IN-VIVO; RAT-BRAIN; BINDING; 5-HT2A; MICE
AB The serotonergic system regulates a wide range of behavior, including mood and impulsivity, and its dysregulation has been associated with mood disorders, autism spectrum disorder, and addiction. Diabetes is a risk factor for these conditions. Insulin resistance in the brain is specifically associated with susceptibility to psychostimulant abuse. Here, we examined whether phosphorylation of Akt, a key regulator of the insulin signaling pathway, controls serotonin (5-HT) signaling. To explore how impairment in Akt function regulates 5-HT homeostasis, we used a brain-specific rictor knockout (KO) mouse model of impaired neuronal phosphorylation of Akt at Ser473. Cortical 5-HT1A and 5-HT2A receptor binding was significantly elevated in rictor KO mice. Concomitant with this elevated receptor expression, the 5-HT1A receptor agonist 8-Hydroxy-2-(di-n-propylamino)tetralin (8-OH-DPAT) led to an increased hypothermic response in rictor KO mice. The increased cortical 5-HT1A receptor density was associated with higher 5-HT1A receptor levels on the cortical cell surface. In contrast, rictor KO mice displayed significantly reduced head-twitch response (HTR) to the 5-HT2A/C agonist 2,5-dimethoxy-4-iodamphetamine (DOI), with evidence of impaired 5-HT2A/C receptor signaling. In vitro, pharmacological inhibition of Akt significantly increased 5-HT1A receptor expression and attenuated DOI-induced 5-HT2A receptor signaling, thereby lending credence to the observed in vivo cross-talk between neuronal Akt signaling and 5-HT receptor regulation. These data reveal that defective central Akt function alters 5-HT signaling as well as 5-HT-associated behaviors, demonstrating a novel role for Akt in maintaining neuronal 5-HT receptor function. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Saunders, Christine; Gresch, Paul J.; Airey, David C.; Lindsley, Craig W.; Veenstra-Vanderweele, Jeremy M.] Vanderbilt Univ, Med Ctr, Dept Pharmacol, Nashville, TN 37232 USA.
[Siuta, Michael; Robertson, Sabrina D.; Davis, Adeola R.; Matthies, Heinrich J. G.; Galli, Aurelio] Vanderbilt Univ, Med Ctr, Dept Mol Physiol & Biophys, Nashville, TN 37232 USA.
[Sauer, Jennifer; Veenstra-Vanderweele, Jeremy M.] Vanderbilt Univ, Med Ctr, Dept Psychiat, Nashville, TN 37232 USA.
[Niswender, Kevin D.] Vanderbilt Univ, Med Ctr, Dept Med, Nashville, TN 37232 USA.
[Galli, Aurelio] Vanderbilt Univ, Med Ctr, Dept Neurosci, Program Subst Abuse, Nashville, TN 37232 USA.
[Schetz, John A.] Univ N Texas, Hlth Sci Ctr, Dept Pharmacol & Neurosci, Ft Worth, TX USA.
RP Veenstra-Vanderweele, JM (reprint author), Vanderbilt Univ, Med Ctr, Dept Psychiat, 465 21st Ave South,MRB3,Room 7158C, Nashville, TN 37232 USA.
EM j.vvw@vanderbilt.edu; aurelio.-galli@vanderbilt.edu
FU National Institutes of Health [P50 MH078028, MH063162, MH081066,
DK085712]
FX This work was supported by National Institutes of Health Grants P50
MH078028-Pilot Project (C.S.), MH063162 (J.A.S.), MH081066 (J.V.), and
DK085712 (A.G. and K.D.N.). We thank Amanda Poe for assistance in
genotyping and maintaining the mouse colonies. We are very grateful to
the Conte Center Bioanalytical Core, specifically to Brett Begely, for
his technical skills with the 5-HT receptor and transporter binding
studies.
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NR 73
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0197-0186
EI 1872-9754
J9 NEUROCHEM INT
JI Neurochem. Int.
PD JUL
PY 2014
VL 73
SI SI
BP 113
EP 121
DI 10.1016/j.neuint.2013.09.015
PG 9
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AL0FW
UT WOS:000338803800013
PM 24090638
ER
PT J
AU Whyte, A
Jessen, T
Varney, S
Carneiro, AMD
AF Whyte, Alonzo
Jessen, Tammy
Varney, Seth
Carneiro, Ana M. D.
TI Serotonin transporter and integrin beta 3 genes interact to modulate
serotonin uptake in mouse brain
SO NEUROCHEMISTRY INTERNATIONAL
LA English
DT Article
DE Serotonin transporter; Integrin; Genetic interaction; Neuropsychiatric
disorders; Autism
ID MICE; DEPRESSION; RECEPTOR
AB Dysfunctions in serotonin (5-hydroxytryptamine, 5-HT) systems have been associated with several psychiatric illnesses, including anxiety, depression, obsessive-compulsive disorders and autism spectrum disorders. Convergent evidence from genetic analyses of human subjects has implicated the integrin beta 3 subunit gene (ITGB3) as a modulator of serotonergic systems via genetic interactions with the 5-HT transporter gene (SLC6A4, SERT). While genetic interactions may result from contributions of each gene at several levels, we hypothesize that ITGB3 modulates the 5-HT system at the level of the synapse, through the actions of integrin alpha v beta 3. Here we utilized a genetic approach in mouse models to examine Itgb3 contributions to SERT function both in the context of normal and reduced SERT expression. As integrin alpha v beta 3 is expressed in postsynaptic membranes, we isolated synaptoneurosomes, which maintain intact pre- and post-synaptic associations. Citalopram binding revealed significant Slc6a4-driven reductions in SERT expression in midbrain synapses, whereas no significant changes were observed in hippocampal or cortical projections. Expecting corresponding changes to SERT function, we also measured 5-HT uptake activity in synaptoneurosomal preparations. Itgb3 single heterozygous mice displayed significant reductions in 5-HT V-max, with no changes in K in midbrain preparations. However, in the presence of both Itgb3 and Slc6a4 heterozygozity, 5-HT uptake was similar to wild-type levels, revealing a significant Slc6a4 by Itgb3 genetic interaction in the midbrain. Similar findings were observed in cortical preparations, whereas in the hippocampus, most V-max changes were driven solely by Slc6a4. Our findings provide evidence that integrin alpha v beta 3 is involved in the regulation of serotonergic systems in some, but not all 5-HT synapses, revealing novel contributions to synaptic specificity within the central nervous system. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Whyte, Alonzo] Vanderbilt Brain Inst, Neurosci Grad Program, Nashville, TN 37232 USA.
[Jessen, Tammy; Varney, Seth; Carneiro, Ana M. D.] Vanderbilt Univ, Sch Med, Dept Pharmacol, Nashville, TN 37232 USA.
RP Carneiro, AMD (reprint author), Vanderbilt Univ, Med Ctr, 461 Preston Res Bldg,23rd Ave South Pierce, Nashville, TN 37232 USA.
EM ana.carneiro@vanderbilt.edu
FU NIMH [090256-01A1]
FX We thank Dennis Murphy and Richard Hynes for generating the Slc6a4 and
Itgb3 lines used in this paper. We thank Jeremy Veenstra-Vanderweele and
Randy D. Blakely for many helpful discussions. This work was supported
by NIMH Grant 090256-01A1.
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NR 15
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0197-0186
EI 1872-9754
J9 NEUROCHEM INT
JI Neurochem. Int.
PD JUL
PY 2014
VL 73
SI SI
BP 122
EP 126
DI 10.1016/j.neuint.2013.09.014
PG 5
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AL0FW
UT WOS:000338803800014
PM 24083985
ER
PT J
AU Ilie, A
Weinstein, E
Boucher, A
McKinney, RA
Orlowski, J
AF Ilie, Alina
Weinstein, Erica
Boucher, Annie
McKinney, R. Anne
Orlowski, John
TI Impaired posttranslational processing and trafficking of an endosomal
Na+/H+ exchanger NHE6 mutant (Delta(WST372)-W-370) associated with
X-linked intellectual disability and autism
SO NEUROCHEMISTRY INTERNATIONAL
LA English
DT Article
DE NHE6; Recycling endosomes; Vesicular trafficking; Neurodegeneration;
Intellectual disability
ID ENDOPLASMIC-RETICULUM STRESS; HIPPOCAMPAL PYRAMIDAL NEURONS;
GLYCOGEN-SYNTHASE KINASE-3; MENTAL-RETARDATION; DENDRITIC SPINES;
CHRISTIANSON SYNDROME; RECYCLING ENDOSOMES; ANGELMAN-SYNDROME; SLC9A6
MUTATIONS; AMPA RECEPTORS
AB Ne+/H+ exchanger NHE6/SLC9A6 is an X-linked gene that is widely expressed and especially abundant in brain, heart and skeletal muscle where it is implicated in endosomal pH homeostasis and trafficking as well as maintenance of cell polarity. Recent genetic studies have identified several mutations in the coding region of NHE6 that are linked with severe intellectual disability, autistic behavior, ataxia and other abnormalities. One such defect consists of an in-frame deletion of three amino acids ((370)Trp-Ser-Thr(372), Delta WST) that adjoin the predicted ninth transmembrane helix of the exchanger. To better understand the nature of this mutation, a NHE6 Delta WST construct was generated and assessed for its effects on the biochemical and cellular properties of the transporter. In transfected fibroblastic CHO and neuroblastoma SH-SY5Y cells, immunoblot analyses showed that the mutant protein was effectively synthesized, but its subsequent oligosaccharide maturation and overall half-life were dramatically reduced compared to wild-type. These changes correlated with significant accumulation of AWST in the endoplasmic reticulum, with only minor sorting to the plasma membrane and negligible trafficking to recycling endosomes. The diminished accumulation in recycling endosomes was associated with a significant decrease in the rate of endocytosis of cell surface AWST compared to wild-type. Furthermore, while ectopic expression of wild-type NHE6 enhanced the uptake of other vesicular cargo such as transferrin along the clathrin-mediated recycling endosomal pathway, this ability was lost in the AWST mutant. Similarly, in transfected primary mouse hippocampal neurons, wild-type NHE6 was localized in discrete puncta throughout the soma and neurites, whereas the AWST mutant displayed a diffuse reticular pattern. Remarkably, the extensive dendritic arborization observed in neurons expressing wild-type NHE6 was noticeably diminished in Delta WST-transfectants. These results suggest that deletion of (370)Trp-Ser-Thr(372) leads to endoplasmic reticulum retention and loss of NHE6 function which potentially impacts the trafficking of other membrane-bound cargo and cell polarity. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Ilie, Alina; Weinstein, Erica; Boucher, Annie; Orlowski, John] McGill Univ, Dept Physiol, Montreal, PQ H3G 0B1, Canada.
[McKinney, R. Anne] McGill Univ, Dept Pharmacol & Therapeut, Montreal, PQ H3G 0B1, Canada.
RP Orlowski, J (reprint author), McGill Univ, Dept Physiol, McIntyre Med Sci Bldg, Montreal, PQ H3G 0B1, Canada.
EM john.orlowski@mcgill.ca
FU Canadian Institutes of Health [MOP-86724, MOP-111191]
FX We thank Mica Das Gupta and Cassandra McEwan for technical assistance.
We also acknowledge the technical assistance provided by the McGill Life
Sciences Imaging Facility and Genome Quebec. This work was supported by
Canadian Institutes of Health Research funding held by R.A.M.
(MOP-86724) and J.O. (MOP-111191).
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NR 56
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0197-0186
EI 1872-9754
J9 NEUROCHEM INT
JI Neurochem. Int.
PD JUL
PY 2014
VL 73
SI SI
BP 192
EP 203
DI 10.1016/j.neuint.2013.09.020
PG 12
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AL0FW
UT WOS:000338803800024
PM 24090639
ER
PT J
AU Duerden, EG
Card, D
Roberts, SW
Mak-Fan, KM
Chakravarty, MM
Lerch, JP
Taylor, MJ
AF Duerden, Emma G.
Card, Dallas
Roberts, S. Wendy
Mak-Fan, Kathleen M.
Chakravarty, M. Mallar
Lerch, Jason P.
Taylor, Margot J.
TI Self-injurious behaviours are associated with alterations in the
somatosensory system in children with autism spectrum disorder
SO BRAIN STRUCTURE & FUNCTION
LA English
DT Article
DE Autism; Spectrum disorder; Injury; Grey matter; White matter; Pain
ID REDUCED THALAMIC VOLUME; CORTICAL THICKNESS; REPETITIVE BEHAVIOR;
WARPING TECHNIQUES; BRAIN OVERGROWTH; MATTER STRUCTURE; PARIETAL LOBE;
RISK-FACTORS; MRI DATA; DIFFUSION
AB Children with autism spectrum disorder (ASD) frequently engage in self-injurious behaviours, often in the absence of reporting pain. Previous research suggests that altered pain sensitivity and repeated exposure to noxious stimuli are associated with morphological changes in somatosensory and limbic cortices. Further evidence from postmortem studies with self-injurious adults has indicated alterations in the structure and organization of the temporal lobes; however, the effect of self-injurious behaviour on cortical development in children with ASD has not yet been determined. Thirty children and adolescents (mean age = 10.6 +/- A 2.5 years; range 7-15 years; 29 males) with a clinical diagnosis of ASD and 30 typically developing children (N = 30, mean age = 10.7 +/- A 2.5 years; range 7-15 years, 26 males) underwent T1-weighted magnetic resonance and diffusion tensor imaging. No between-group differences were seen in cerebral volume, surface area or cortical thickness. Within the ASD group, self-injury scores negatively correlated with thickness in the right superior parietal lobule t = 6.3, p < 0.0001, bilateral primary somatosensory cortices (SI) (right: t = 4.4, p = 0.02; left: t = 4.48, p = 0.004) and the volume of the left ventroposterior (VP) nucleus of the thalamus (r = -0.52, p = 0.008). Based on these findings, we performed an atlas-based region-of-interest diffusion tensor imaging analysis between SI and the VP nucleus and found that children who engaged in self-injury had significantly lower fractional anisotropy (r = -0.4, p = 0.04) and higher mean diffusivity (r = 0.5, p = 0.03) values in the territory of the left posterior limb of the internal capsule. Additionally, greater incidence of self-injury was associated with increased radial diffusivity values in bilateral posterior limbs of the internal capsule (left: r = 0.5, p = 0.02; right: r = 0.5, p = 0.009) and corona radiata (left: r = 0.6, p = 0.005; right: r = 0.5, p = 0.009). Results indicate that self-injury is related to alterations in somatosensory cortical and subcortical regions and their supporting white-matter pathways. Findings could reflect use-dependent plasticity in the somatosensory system or disrupted brain development that could serve as a risk marker for self-injury.
C1 [Duerden, Emma G.; Card, Dallas; Roberts, S. Wendy; Mak-Fan, Kathleen M.; Taylor, Margot J.] Hosp Sick Children, Dept Diagnost Imaging, Toronto, ON M5G 1X8, Canada.
[Duerden, Emma G.; Lerch, Jason P.; Taylor, Margot J.] Hosp Sick Children, Program Neurosci & Mental Hlth, Toronto, ON M5G 1X8, Canada.
[Mak-Fan, Kathleen M.; Taylor, Margot J.] Univ Toronto, Dept Psychol, Toronto, ON M5S 1A1, Canada.
[Chakravarty, M. Mallar] Ctr Addict & Mental Hlth, Kimel Family Translat Imaging Genet Res Lab, Res Imaging Ctr, Toronto, ON, Canada.
[Chakravarty, M. Mallar] Univ Toronto, Dept Psychiat, Toronto, ON, Canada.
[Chakravarty, M. Mallar] Univ Toronto, Inst Biomat & Biomed Engn, Toronto, ON, Canada.
[Lerch, Jason P.] Univ Toronto, Dept Med Biophys, Toronto, ON, Canada.
RP Duerden, EG (reprint author), Hosp Sick Children, Dept Diagnost Imaging, 555 Univ Ave, Toronto, ON M5G 1X8, Canada.
EM emma.duerden@sickkids.ca
FU Canadian Institutes of Health Research [MOP-81161]; Hospital for Sick
Children; Reva Gerstein Fellowship in Paediatric Psychology
FX The authors would like to thank Wayne Lee for MRI technical and Dr.
Annie Dupuis, Hospital for Sick Children, for statistical analysis
support. This research was funded by the Canadian Institutes of Health
Research [grant number MOP-81161 to MJT], Research Training Competition
Fellowship from the Hospital for Sick Children (EGD), and a Reva
Gerstein Fellowship in Paediatric Psychology (EGD). We also sincerely
thank the children and their families who participated in this study.
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NR 81
TC 1
Z9 1
PU SPRINGER HEIDELBERG
PI HEIDELBERG
PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY
SN 1863-2653
EI 1863-2661
J9 BRAIN STRUCT FUNCT
JI Brain Struct. Funct.
PD JUL
PY 2014
VL 219
IS 4
BP 1251
EP 1261
DI 10.1007/s00429-013-0562-2
PG 11
WC Anatomy & Morphology; Neurosciences
SC Anatomy & Morphology; Neurosciences & Neurology
GA AK6DD
UT WOS:000338517400007
PM 23644587
ER
PT J
AU Lee, SY
Ramirez, J
Franco, M
Lectez, B
Gonzalez, M
Barrio, R
Mayor, U
AF Lee, So Young
Ramirez, Juanma
Franco, Maribel
Lectez, Benoit
Gonzalez, Monika
Barrio, Rosa
Mayor, Ugo
TI Ube3a, the E3 ubiquitin ligase causing Angelman syndrome and linked to
autism, regulates protein homeostasis through the proteasomal shuttle
Rpn10
SO CELLULAR AND MOLECULAR LIFE SCIENCES
LA English
DT Article
DE Ube3a; Ubiquitin; Angelman syndrome; Autism; Proteasome; Rpn10
ID DENDRITIC SPINES; DROSOPHILA-MELANOGASTER; SYNAPSE DEVELOPMENT; GENE
UBE3A; DEGRADATION; RECRUITMENT; EXPRESSION; MUTATIONS; COMPLEXES;
REVEALS
AB Ubiquitination, the covalent attachment of ubiquitin to a target protein, regulates most cellular processes and is involved in several neurological disorders. In particular, Angelman syndrome and one of the most common genomic forms of autism, dup15q, are caused respectively by lack of or excess of UBE3A, a ubiquitin E3 ligase. Its Drosophila orthologue, Ube3a, is also active during brain development. We have now devised a protocol to screen for substrates of this particular ubiquitin ligase. In a neuronal cell system, we find direct ubiquitination by Ube3a of three proteasome-related proteins Rpn10, Uch-L5, and CG8209, as well as of the ribosomal protein Rps10b. Only one of these, Rpn10, is targeted for degradation upon ubiquitination by Ube3a, indicating that degradation might not be the only effect of Ube3a on its substrates. Furthermore, we report the genetic interaction in vivo between Ube3a and the C-terminal part of Rpn10. Overexpression of these proteins leads to an enhanced accumulation of ubiquitinated proteins, further supporting the biochemical evidence of interaction obtained in neuronal cells.
C1 [Lee, So Young; Ramirez, Juanma; Franco, Maribel; Lectez, Benoit; Gonzalez, Monika; Barrio, Rosa; Mayor, Ugo] CIC BioGUNE, Derio 48160, Basque Country, Spain.
[Mayor, Ugo] Basque Fdn Sci, Ikerbasque, Bilbao 48011, Spain.
RP Mayor, U (reprint author), CIC BioGUNE, Bizkaia Teknol Pk,Bldg 801-A, Derio 48160, Basque Country, Spain.
EM umayor@cicbiogune.com
RI Barrio, Rosa/F-8712-2011
OI Barrio, Rosa/0000-0002-9663-0669
FU CIC bioGUNE Gene Silencing Platform; Basque Government [PI2011-24,
PI2009-16, PI2012/42]; March of Dimes Basil O'Connor Starter Scholar
Research Award [5-FY12-16]; Spanish MICINN [BFU2008-01884,
BFU2011-25986]; Bizkaia County; [CSD2007-008-25120]
FX We would like to thank Janice Fischer, Fen-Biao Gao, Zoltan Lipinszki,
Bloomington Stock Center, the DRSC, and The Developmental Studies
Hybridoma Bank-DSHB (University of Iowa) for flies, cells, dsRNA
templates, and antibodies, and David Gubb for helpful advice and
support. We thank J. D. Sutherland for his suggestion to use the
anti-GFP beads. We would also like to thank Larry Reiter and Catherine
Lindon for critical reading and comments on the manuscript. We
acknowledge the CIC bioGUNE Gene Silencing Platform for support. This
work was supported by a Basque Government research grant (PI2011-24) and
a March of Dimes Basil O'Connor Starter Scholar Research Award
(5-FY12-16) to U. M. RB thanks the Spanish MICINN (grants BFU2008-01884,
BFU2011-25986) and the Consolider Program (CSD2007-008-25120), the
Basque Government (PI2009-16 and PI2012/42), and the Bizkaia County.
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NR 46
TC 1
Z9 1
PU SPRINGER BASEL AG
PI BASEL
PA PICASSOPLATZ 4, BASEL, 4052, SWITZERLAND
SN 1420-682X
EI 1420-9071
J9 CELL MOL LIFE SCI
JI Cell. Mol. Life Sci.
PD JUL
PY 2014
VL 71
IS 14
BP 2747
EP 2758
DI 10.1007/s00018-013-1526-7
PG 12
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA AK0SW
UT WOS:000338126600012
PM 24292889
ER
PT J
AU Tyszka, JM
Kennedy, DP
Paul, LK
Adolphs, R
AF Tyszka, J. Michael
Kennedy, Daniel P.
Paul, Lynn K.
Adolphs, Ralph
TI Largely Typical Patterns of Resting-State Functional Connectivity in
High-Functioning Adults with Autism
SO CEREBRAL CORTEX
LA English
DT Article
DE autism spectrum disorder; functional magnetic resonance imaging;
independent component analysis; resting-state networks; temporal
correlation
ID SPECTRUM DISORDERS; BRAIN CONNECTIVITY; PUBLICATION BIAS;
CORPUS-CALLOSUM; WORKING-MEMORY; NETWORKS; CORTEX; FMRI; MRI;
UNDERCONNECTIVITY
AB A leading hypothesis for the neural basis of autism postulates globally abnormal brain connectivity, yet the majority of studies report effects that are either very weak, inconsistent across studies, or explain results incompletely. Here we apply multiple analytical approaches to resting-state BOLD-fMRI data at the whole-brain level. Neurotypical and high-functioning adults with autism displayed very similar patterns and strengths of resting-state connectivity. We found only limited evidence in autism for abnormal resting-state connectivity at the regional level and no evidence for altered connectivity at the whole-brain level. Regional abnormalities in functional connectivity in autism spectrum disorder were primarily in the frontal and temporal cortices. Within these regions, functional connectivity with other brain regions was almost exclusively lower in the autism group. Further examination showed that even small amounts of head motion during scanning have large effects on functional connectivity measures and must be controlled carefully. Consequently, we suggest caution in the interpretation of apparent positive findings until all possible confounding effects can be ruled out. Additionally, we do not rule out the possibility that abnormal connectivity in autism is evident at the microstructural synaptic level, which may not be reflected sensitively in hemodynamic changes measured with BOLD-fMRI.
C1 [Tyszka, J. Michael; Adolphs, Ralph] CALTECH, Div Biol, Pasadena, CA 91125 USA.
[Kennedy, Daniel P.; Paul, Lynn K.; Adolphs, Ralph] CALTECH, Div Humanities & Social Sci, Pasadena, CA 91125 USA.
[Kennedy, Daniel P.] Indiana Univ, Dept Psychol & Brain Sci, Bloomington, IN USA.
RP Tyszka, JM (reprint author), CALTECH, 2A Broad 114-96,1200 E Calif Blvd, Pasadena, CA 91125 USA.
EM jmt@caltech.edu; dpk@indiana.edu
RI Tyszka, Julian/O-3498-2014
OI Tyszka, Julian/0000-0001-9342-9014
FU National Institutes of Health [P50MH094258, R01 MH080721,
K99MH094409/R00MH094409]; Simons Foundation [SFARI-07-01]; National
Alliance for Research on Schizophrenia and Depression (Young
Investigator Award)
FX This work was supported by a Conte Center grant from the National
Institutes of Health (P50MH094258 to R. A., J.M.T., L. K. P.) and grants
from the Simons Foundation (SFARI-07-01 to R. A.), the National
Institutes of Health (R01 MH080721 to R. A.; K99MH094409/R00MH094409 to
D. P. K.), and the National Alliance for Research on Schizophrenia and
Depression (2009 Young Investigator Award to L.K.P.).
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NR 70
TC 12
Z9 12
PU OXFORD UNIV PRESS INC
PI CARY
PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA
SN 1047-3211
EI 1460-2199
J9 CEREB CORTEX
JI Cereb. Cortex
PD JUL
PY 2014
VL 24
IS 7
BP 1894
EP 1905
DI 10.1093/cercor/bht040
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AK0NS
UT WOS:000338110900017
PM 23425893
ER
PT J
AU Travis, KE
Curran, MM
Torres, C
Leonard, MK
Brown, TT
Dale, AM
Elman, JL
Halgren, E
AF Travis, Katherine E.
Curran, Megan M.
Torres, Christina
Leonard, Matthew K.
Brown, Timothy T.
Dale, Anders M.
Elman, Jeffrey L.
Halgren, Eric
TI Age-related Changes in Tissue Signal Properties Within Cortical Areas
Important for Word Understanding in 12-to 19-Month-Old Infants
SO CEREBRAL CORTEX
LA English
DT Article
DE brain development; infants; language; structural MRI
ID HUMAN CEREBRAL-CORTEX; NERVOUS-SYSTEM MYELINATION; AUTISM SPECTRUM
DISORDERS; NORMAL BRAIN-DEVELOPMENT; SURFACE-BASED ANALYSIS;
HIGH-RESOLUTION MRI; GRAY-MATTER; MORPHOMETRIC-ANALYSIS; IRON
CONCENTRATION; T2-WEIGHTED MRI
AB Recently, our laboratory has shown that the neural mechanisms for encoding lexico-semantic information in adults operate functionally by 12-18 months of age within left frontotemporal cortices (Travis et al., 2011. Spatiotemporal neural dynamics of word understanding in 12- to 18-month-old-infants. Cereb Cortex. 8:1832-1839). However, there is minimal knowledge of the structural changes that occur within these and other cortical regions important for language development. To identify regional structural changes taking place during this important period in infant development, we examined age-related changes in tissue signal properties of gray matter (GM) and white matter (WM) intensity and contrast. T-1-weighted surface-based measures were acquired from 12- to 19-month-old infants and analyzed using a general linear model. Significant age effects were observed for GM and WM intensity and contrast within bilateral inferior lateral and anterovental temporal regions, dorsomedial frontal, and superior parietal cortices. Region of interest (ROI) analyses revealed that GM and WM intensity and contrast significantly increased with age within the same left lateral temporal regions shown to generate lexico-semantic activity in infants and adults. These findings suggest that neurophysiological processes supporting linguistic and cognitive behaviors may develop before cellular and structural maturation is complete within associative cortices. These results have important implications for understanding the neurobiological mechanisms relating structural to functional brain development.
C1 [Travis, Katherine E.; Curran, Megan M.; Torres, Christina; Leonard, Matthew K.; Dale, Anders M.; Halgren, Eric] Univ Calif San Diego, Dept Radiol, San Diego, CA 92103 USA.
[Travis, Katherine E.; Curran, Megan M.; Torres, Christina; Leonard, Matthew K.; Brown, Timothy T.; Dale, Anders M.; Halgren, Eric] Univ Calif San Diego, Multimodal Imaging Lab, San Diego, CA 92103 USA.
[Brown, Timothy T.; Dale, Anders M.] Univ Calif San Diego, Dept Neurosci, San Diego, CA 92103 USA.
[Elman, Jeffrey L.; Halgren, Eric] Univ Calif San Diego, Kavli Inst Brain & Mind, San Diego, CA 92103 USA.
[Elman, Jeffrey L.] Univ Calif San Diego, Dept Cognit Sci, San Diego, CA 92103 USA.
RP Travis, KE (reprint author), Stanford Univ, Dept Pediat, Sch Med, Grant Bldg S-224, Stanford, CA 94305 USA.
EM ktravis1@stanford.edu
FU Kavli Institute for Brain and Mind, UCSD; NIH/NINDA [R01 NS018741-23A1,
R21 HD066364]; NIH; Chancellor's Collaboratories Award, UCSD
FX Funding sources include Kavli Institute for Brain and Mind, UCSD
http://kibm.ucsd.edu/ and NIH/NINDA R01 NS018741-23A1, R21 HD066364
funding of E. H. K. E. T and M. K. L. have been supported by NIH
pre-doctoral training grants and the Chancellor's Collaboratories Award,
UCSD. 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 70
TC 0
Z9 0
PU OXFORD UNIV PRESS INC
PI CARY
PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA
SN 1047-3211
EI 1460-2199
J9 CEREB CORTEX
JI Cereb. Cortex
PD JUL
PY 2014
VL 24
IS 7
BP 1948
EP 1955
DI 10.1093/cercor/bht052
PG 8
WC Neurosciences
SC Neurosciences & Neurology
GA AK0NS
UT WOS:000338110900021
PM 23448869
ER
PT J
AU Williams, AL
DeSesso, JM
AF Williams, Amy Lavin
DeSesso, John M.
TI Gestational/ Perinatal chlorpyrifos exposure is not associated with
autistic-like behaviors in rodents
SO CRITICAL REVIEWS IN TOXICOLOGY
LA English
DT Review
DE Danimal behavioral models; autism spectrum disorder; mice; pesticide;
rats
ID SPECTRUM DISORDERS; ANIMAL-MODELS; DEVELOPMENTAL NEUROTOXICITY; NEONATAL
EXPOSURE; INBRED STRAINS; TASKS RELEVANT; FEMALE MICE; PREVALENCE; RATS;
ADULTHOOD
AB Although animal models cannot exactly replicate human psychiatric disorders, they may be useful to investigate whether the behaviors associated with certain exposures in animals parallel those observed in people. According to the most current version of the Diagnostic and Statistical Manual of Mental Disorders, autism is diagnosed based on (1) persistent deficits in social communication and social interaction; and (2) the presence of restricted, repetitive patterns of behavior, interests and activities. To address whether developmental chlorpyrifos (CPF) exposure was associated with the development of autistic behaviors, a literature search was conducted to identify studies in rats and mice involving gestational or early postnatal exposure to CPF or CPF oxon (CPO, the active metabolite of CPF) and subsequent behavioral testing to assess behaviors related to autism. A total of 13 studies conducted in six different laboratories were identified. Analysis of these studies found that perinatal CPF exposure was generally associated with (1) no effect or increased social communications; (2) no effect or increased social encounters; (3) no effect, reduced stereotypies, or conflicting findings on stereotypic behaviors; and (4) no effect or increased preference for novelty and reduced anxiety in novel environments. These behavioral findings are generally inconsistent with the types of behaviors that would be expected in children with clinical autism. Based on the results of this analysis of rodent model studies involving CPF/CPO exposure, it cannot be concluded that gestational and/or perinatal CPF exposure is likely to be associated with the development of autism-like behaviors in humans.
C1 [Williams, Amy Lavin; DeSesso, John M.] Exponent Inc, Alexandria, VA 22314 USA.
RP Williams, AL (reprint author), Exponent Inc, 1800 Diagonal Rd,Suite 500, Alexandria, VA 22314 USA.
EM awilliams@exponent.com
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NR 57
TC 2
Z9 2
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1040-8444
EI 1547-6898
J9 CRIT REV TOXICOL
JI Crit. Rev. Toxicol.
PD JUL
PY 2014
VL 44
IS 6
BP 523
EP 534
DI 10.3109/10408444.2014.907772
PG 12
WC Toxicology
SC Toxicology
GA AK6DM
UT WOS:000338518300003
PM 24861450
ER
PT J
AU de Klerk, CCJM
Gliga, T
Charman, T
Johnson, MH
AF de Klerk, Carina C. J. M.
Gliga, Teodora
Charman, Tony
Johnson, Mark H.
CA BASIS Team
TI Face engagement during infancy predicts later face recognition ability
in younger siblings of children with autism
SO DEVELOPMENTAL SCIENCE
LA English
DT Article
ID SPECTRUM DISORDERS; DEVELOPMENTAL DISORDERS; VISUAL-ATTENTION;
GAZE-FIXATION; HIGH-RISK; INDIVIDUALS; TODDLERS; PERCEPTION; DIAGNOSIS;
CIRCUITRY
AB Face recognition difficulties are frequently documented in children with autism spectrum disorders (ASD). It has been hypothesized that these difficulties result from a reduced interest in faces early in life, leading to decreased cortical specialization and atypical development of the neural circuitry for face processing. However, a recent study by our lab demonstrated that infants at increased familial risk for ASD, irrespective of their diagnostic status at 3 years, exhibit a clear orienting response to faces. The present study was conducted as a follow-up on the same cohort to investigate how measures of early engagement with faces relate to face-processing abilities later in life. We also investigated whether face recognition difficulties are specifically related to an ASD diagnosis, or whether they are present at a higher rate in all those at familial risk. At 3 years we found a reduced ability to recognize unfamiliar faces in the high-risk group that was not specific to those children who received an ASD diagnosis, consistent with face recognition difficulties being an endophenotype of the disorder. Furthermore, we found that longer looking at faces at 7 months was associated with poorer performance on the face recognition task at 3 years in the high-risk group. These findings suggest that longer looking at faces in infants at risk for ASD might reflect early face-processing difficulties and predicts difficulties with recognizing faces later in life.
C1 [de Klerk, Carina C. J. M.; Gliga, Teodora; Johnson, Mark H.] Univ London, Birbeck Coll, Ctr Brain & Cognit Dev, London WC1E 7HX, England.
[Charman, Tony] Kings Coll London, Inst Psychiat, London, England.
RP de Klerk, CCJM (reprint author), Univ London, Birbeck Coll, Ctr Brain & Cognit Dev, Henry Wellcome Bldg, London WC1E 7HX, England.
EM c.deklerk@bbk.ac.uk
RI Pickles, Andrew/A-9625-2011
OI Pickles, Andrew/0000-0003-1283-0346
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NR 64
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 JUL
PY 2014
VL 17
IS 4
BP 596
EP 611
DI 10.1111/desc.12141
PG 16
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA AK0OU
UT WOS:000338114300009
PM 24314028
ER
PT J
AU Bedford, R
Pickles, A
Gliga, T
Elsabbagh, M
Charman, T
Johnson, MH
AF Bedford, Rachael
Pickles, Andrew
Gliga, Teodora
Elsabbagh, Mayada
Charman, Tony
Johnson, Mark H.
CA BASIS Team
TI Additive effects of social and non-social attention during infancy
relate to later autism spectrum disorder
SO DEVELOPMENTAL SCIENCE
LA English
DT Article
ID JOINT VISUAL-ATTENTION; CHILDREN; COMMUNICATION; DISENGAGEMENT; BEHAVIOR
AB Emerging findings from studies with infants at familial high risk for autism spectrum disorder (ASD), owing to an older sibling with a diagnosis, suggest that those who go on to develop ASD show early impairments in the processing of stimuli with both social and non-social content. Although ASD is defined by social-communication impairments and restricted and repetitive behaviours, the majority of cognitive theories of ASD posit a single underlying factor, which over development has secondary effects across domains. This is the first high-risk study to statistically differentiate theoretical models of the development of ASD in high-risk siblings using multiple risk factors. We examined the prediction of ASD outcome by attention to social and non-social stimuli: gaze following and attentional disengagement assessed at 13 months in low-risk controls and high-risk ASD infants (who were subsequently diagnosed with ASD at 3 years). When included in the same regression model, these 13-month measures independently predicted ASD outcome at 3 years of age. The data were best described by an additive model, suggesting that non-social attention, disengagement, and social attention as evidenced by gaze following, have a cumulative impact on ASD risk. These data argue against cognitive theories of ASD which propose that a single underlying factor has cascading effects across early development leading to an ASD outcome, and support multiple impairment models of ASD that are more consistent with recent genetic and neurobiological evidence.
C1 [Bedford, Rachael; Pickles, Andrew; Charman, Tony] Kings Coll London, Inst Psychiat, Dept Biostat, London SE5 8AF, England.
[Gliga, Teodora; Johnson, Mark H.] Univ London, Ctr Brain & Cognit Dev, Birkbeck, London WC1E 7HU, England.
[Elsabbagh, Mayada] McGill Univ, Dept Psychiat, Montreal, PQ H3A 2T5, Canada.
RP Bedford, R (reprint author), Kings Coll London, Inst Psychiat, Dept Biostat, P020,Decrespigny Pk, London SE5 8AF, England.
EM rachael.bedford@kcl.ac.uk
RI Pickles, Andrew/A-9625-2011
OI Pickles, Andrew/0000-0003-1283-0346
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NR 34
TC 3
Z9 3
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 JUL
PY 2014
VL 17
IS 4
BP 612
EP 620
DI 10.1111/desc.12139
PG 9
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA AK0OU
UT WOS:000338114300010
PM 25089324
ER
PT J
AU Helbig, I
Swinkels, MEM
Aten, E
Caliebe, A
van 't Slot, R
Boor, R
von Spiczak, S
Muhle, H
Jahn, JA
van Binsbergen, E
van Nieuwenhuizen, O
Jansen, FE
Braun, KPJ
de Haan, GJ
Tommerup, N
Stephani, U
Hjalgrim, H
Poot, M
Lindhout, D
Brilstra, EH
Moller, RS
Koeleman, BPC
AF Helbig, Ingo
Swinkels, Marielle E. M.
Aten, Emmelien
Caliebe, Almuth
van 't Slot, Ruben
Boor, Rainer
von Spiczak, Sarah
Muhle, Hiltrud
Jaehn, Johanna A.
van Binsbergen, Ellen
van Nieuwenhuizen, Onno
Jansen, Floor E.
Braun, Kees P. J.
de Haan, Gerrit-Jan
Tommerup, Niels
Stephani, Ulrich
Hjalgrim, Helle
Poot, Martin
Lindhout, Dick
Brilstra, Eva H.
Moller, Rikke S.
Koeleman, Bobby P. C.
TI Structural genomic variation in childhood epilepsies with complex
phenotypes
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE CNV; structural genomic variation; childhood epilepsies; epileptic
encephalopathies
ID TERMINAL DELETION SYNDROME; MOLECULAR CHARACTERIZATION; 16P13.11
PREDISPOSE; CLASSIFICATION; MICRODELETIONS; AUTISM
AB A genetic contribution to a broad range of epilepsies has been postulated, and particularly copy number variations (CNVs) have emerged as significant genetic risk factors. However, the role of CNVs in patients with epilepsies with complex phenotypes is not known. Therefore, we investigated the role of CNVs in patients with unclassified epilepsies and complex phenotypes. A total of 222 patients from three European countries, including patients with structural lesions on magnetic resonance imaging (MRI), dysmorphic features, and multiple congenital anomalies, were clinically evaluated and screened for CNVs. MRI findings including acquired or developmental lesions and patient characteristics were subdivided and analyzed in subgroups. MRI data were available for 88.3% of patients, of whom 41.6% had abnormal MRI findings. Eighty-eight rare CNVs were discovered in 71 out of 222 patients (31.9%). Segregation of all identified variants could be assessed in 42 patients, 11 of which were de novo. The frequency of all structural variants and de novo variants was not statistically different between patients with or without MRI abnormalities or MRI subcategories. Patients with dysmorphic features were more likely to carry a rare CNV. Genome-wide screening methods for rare CNVs may provide clues for the genetic etiology in patients with a broader range of epilepsies than previously anticipated, including in patients with various brain anomalies detectable by MRI. Performing genome-wide screens for rare CNVs can be a valuable contribution to the routine diagnostic workup in patients with a broad range of childhood epilepsies.
C1 [Helbig, Ingo; Boor, Rainer; von Spiczak, Sarah; Muhle, Hiltrud; Jaehn, Johanna A.; Stephani, Ulrich] Univ Med Ctr Schleswig Holstein UKSH, Dept Neuropediat, D-24105 Kiel, Germany.
[Swinkels, Marielle E. M.; van 't Slot, Ruben; van Binsbergen, Ellen; Poot, Martin; Lindhout, Dick; Brilstra, Eva H.; Koeleman, Bobby P. C.] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands.
[Swinkels, Marielle E. M.; de Haan, Gerrit-Jan; Lindhout, Dick] SEIN Epilepsy Inst Netherlands Fdn, Hoofddorp, Netherlands.
[Aten, Emmelien] Leiden Univ, Med Ctr, Dept Med Genet, Leiden, Netherlands.
[Caliebe, Almuth] Univ Med Ctr Schleswig Holstein UKSH, Dept Human Genet, D-24105 Kiel, Germany.
[van Nieuwenhuizen, Onno; Jansen, Floor E.; Braun, Kees P. J.] Univ Med Ctr Utrecht, Rudolf Magnus Inst Neurosci, Dept Clin Neurol, Utrecht, Netherlands.
[Tommerup, Niels; Moller, Rikke S.] Wilhelm Johannsen Ctr Funct Genome Res, Copenhagen, Denmark.
[Hjalgrim, Helle; Moller, Rikke S.] Danish Epilepsy Ctr, Dianalund, Denmark.
[Hjalgrim, Helle; Moller, Rikke S.] Univ Southern Denmark, Inst Reg Hlth Serv Res, Odense, Denmark.
RP Helbig, I (reprint author), Univ Med Ctr Schleswig Holstein UKSH, Dept Neuropediat, Bldg 9,Arnold Heller St 3, D-24105 Kiel, Germany.
EM i.helbig@pedneuro.uni-kiel.de
RI Poot, Martin/F-9427-2010; Stephani, Ulrich/D-1004-2010
FU EuroEPINOMICS projects within the EUROCORES framework of the European
Science Foundation; German Research Foundation (DFG HE) [5413/3-1]
FX We thank the patients and their parents for participation in this study.
This project was supported by the EuroEPINOMICS projects within the
EUROCORES framework of the European Science Foundation and funds of the
German Research Foundation (DFG HE 5413/3-1).
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NR 21
TC 3
Z9 4
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 JUL
PY 2014
VL 22
IS 7
BP 896
EP 901
DI 10.1038/ejhg.2013.262
PG 6
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AK3RP
UT WOS:000338342700011
PM 24281369
ER
PT J
AU Lee, H
Lin, MCA
Kornblum, HI
Papazian, DM
Nelson, SF
AF Lee, Hane
Lin, Meng-chin A.
Kornblum, Harley I.
Papazian, Diane M.
Nelson, Stanley F.
TI Exome sequencing identifies de novo gain of function missense mutation
in KCND2 in identical twins with autism and seizures that slows
potassium channel inactivation
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID CLOSED-STATE INACTIVATION; SPECTRUM DISORDER; K+ CHANNELS; YOUNG-ADULTS;
ION CHANNELS; EPILEPSY; KV4.2; MODULATION; PROTEIN; INDIVIDUALS
AB Numerous studies and case reports show comorbidity of autism and epilepsy, suggesting some common molecular underpinnings of the two phenotypes. However, the relationship between the two, on the molecular level, remains unclear. Here, whole exome sequencing was performed on a family with identical twins affected with autism and severe, intractable seizures. A de novo variant was identified in the KCND2 gene, which encodes the Kv4.2 potassium channel. Kv4.2 is a major pore-forming subunit in somatodendritic subthreshold A-type potassium current (I-SA) channels. The de novo mutation p.Val404Met is novel and occurs at a highly conserved residue within the C-terminal end of the transmembrane helix S6 region of the ion permeation pathway. Functional analysis revealed the likely pathogenicity of the variant in that the p.Val404Met mutant construct showed significantly slowed inactivation, either by itself or after equimolar coexpression with the wild-type Kv4.2 channel construct consistent with a dominant effect. Further, the effect of the mutation on closed-state inactivation was evident in the presence of auxiliary subunits that associate with Kv4 subunits to form I-SA channels in vivo. Discovery of a functionally relevant novel de novo variant, coupled with physiological evidence that the mutant protein disrupts potassium current inactivation, strongly supports KCND2 as the causal gene for epilepsy in this family. Interaction of KCND2 with other genes implicated in autism and the role of KCND2 in synaptic plasticity provide suggestive evidence of an etiological role in autism.
C1 [Lee, Hane; Nelson, Stanley F.] Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA.
[Lin, Meng-chin A.; Papazian, Diane M.] Univ Calif Los Angeles, Dept Physiol, Los Angeles, CA 90095 USA.
[Kornblum, Harley I.] Univ Calif Los Angeles, Dept Psychiat, Los Angeles, CA 90095 USA.
[Kornblum, Harley I.] Univ Calif Los Angeles, Dept Mol & Med Pharmacol, Los Angeles, CA 90095 USA.
[Kornblum, Harley I.] Univ Calif Los Angeles, Dept Pediat, Los Angeles, CA 90095 USA.
[Nelson, Stanley F.] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90095 USA.
RP Nelson, SF (reprint author), Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA.
EM snelson@ucla.edu
FU P30 UCLA Muscular Dystrophy Core Center grant; National Institutes of
Health [5R01NS073871-03, 5R01GM043459-21]
FX The work was performed within the UCLA Clinical Genomics Center with
support from the P30 UCLA Muscular Dystrophy Core Center grant to S.N.,
National Institutes of Health grant 5R01NS073871-03 to S.N. and National
Institutes of Health grant 5R01GM043459-21 to D.M.P.
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 55
TC 5
Z9 6
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 JUL
PY 2014
VL 23
IS 13
BP 3481
EP 3489
DI 10.1093/hmg/ddu056
PG 9
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AK0ST
UT WOS:000338126300011
PM 24501278
ER
PT J
AU Clipperton-Allen, AE
Page, DT
AF Clipperton-Allen, Amy E.
Page, Damon T.
TI Pten haploinsufficient mice show broad brain overgrowth but selective
impairments in autism-relevant behavioral tests
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID TUMOR-SUPPRESSOR GENE; SPECTRUM DISORDERS; SYNAPTIC PLASTICITY; HEAD
CIRCUMFERENCE; TENSIN HOMOLOG; KNOCKOUT MICE; MOUSE MODEL;
NEURODEVELOPMENTAL DISORDERS; SOCIAL INFORMATION; DOPAMINE NEURONS
AB Accelerated head and brain growth (macrocephaly) during development is a replicated biological finding in a subset of individuals with autism spectrum disorder (ASD). However, the relationship between brain overgrowth and the behavioral and cognitive symptoms of ASD is poorly understood. The PI3K-Akt-mTOR pathway regulates cellular growth; several genes encoding negative regulators of this pathway are ASD risk factors, including PTEN. Mutations in PTEN have been reported in individuals with ASD and macrocephaly. We report that brain overgrowth is widespread in Pten germline haploinsufficient (Pten(+/-)) mice, reflecting Pten mRNA expression in the developing brain. We then ask if broad brain overgrowth translates into general or specific effects on the development of behavior and cognition by testing Pten(+/-) mice using assays relevant to ASD and comorbidities. Deficits in social behavior were observed in both sexes. Males also showed abnormalities related to repetitive behavior and mood/anxiety. Females exhibited circadian activity and emotional learning phenotypes. Widespread brain overgrowth together with selective behavioral impairments in Pten(+/-) mice raises the possibility that most brain areas and constituent cell types adapt to an altered trajectory of growth with minimal impact on the behaviors tested in our battery; however, select areas/cell types relevant to social behavior are more vulnerable or less adaptable, thus resulting in social deficits. Probing dopaminergic neurons as a candidate vulnerable cell type, we found social behavioral impairments in mice with Pten conditionally inactivated in dopaminergic neurons that are consistent with the possibility that desynchronized growth in key cell types may contribute to ASD endophenotypes.
C1 [Clipperton-Allen, Amy E.; Page, Damon T.] Scripps Res Inst, Dept Neurosci, Jupiter, FL 33458 USA.
RP Page, DT (reprint author), Scripps Res Inst, Dept Neurosci, 130 Scripps Way, Jupiter, FL 33458 USA.
EM paged@scripps.edu
FU Scripps Research Institute
FX We are grateful for gift funds from Mrs Nancy Lurie Marks and startup
funds from The Scripps Research Institute for support.
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NR 102
TC 5
Z9 5
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 JUL
PY 2014
VL 23
IS 13
BP 3490
EP 3505
DI 10.1093/hmg/ddu057
PG 16
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AK0ST
UT WOS:000338126300012
PM 24497577
ER
PT J
AU Sinzig, J
Vinzelberg, I
Evers, D
Lehmkuhl, G
AF Sinzig, Judith
Vinzelberg, Isabella
Evers, Dagmar
Lehmkuhl, Gerd
TI Executive function and attention profiles in preschool and elementary
school children with autism spectrum disorders or ADHD
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE ADHD; attention; autism; executive functions; neuropsychology; preschool
age
ID DEFICIT-HYPERACTIVITY DISORDER; PERVASIVE DEVELOPMENTAL DISORDER;
DEFICIT/HYPERACTIVITY DISORDER; SUSTAINED ATTENTION;
PSYCHIATRIC-DISORDERS; COMORBIDITY; PERFORMANCE; SYMPTOMS;
METHYLPHENIDATE; BEHAVIOR
AB Both autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD) show executive function and attention problems. By now, these are well described in school children and adolescents, but not in preschool or elementary school children. The goal of this study was to compare the neuropsychological profiles of executive and attention functions in an ADHD, an ASD, and a typically-developing group. Eighty-five children aged 4-9 years old with ADHD (n=30) or ASD (n=26) and healthy children (n=29) were included consecutively. Psychopathology was evaluated using the KIDDIE-SADS, the Child Behaviour Checklist (CBCL), and symptom checklists for ADHD according to DSM-IV. Assessment of neuropsychological functioning included tasks from the Amsterdam Neuropsychological Tasks (ANT), namely, inhibition (GoNoGo), flexibility (shifting attentional set visual), and sustained attention (sustained attention objects). A MANOVA with age and IQ as covariates revealed statistically significant group effects for the variable 'flexibility errors compatible'. Effect sizes showed clear deficits of children with ASD and ADHD in inhibition and, furthermore, impairments in sustained attention in ASD children. Pearson correlations revealed associations between social problems and aggressive behaviour with all three tasks in the ADHD group and between thought problems and sustained attention in the ASD group. Our hypothesis was partly confirmed as ADHD children showed more deficits in inhibition tasks than healthy children. However, there was no evidence that children with ASD have a specific profile in comparison to ADHD children.
C1 [Sinzig, Judith; Evers, Dagmar; Lehmkuhl, Gerd] Univ Cologne, Dept Child & Adolescent Psychiat, Cologne, Germany.
[Sinzig, Judith; Vinzelberg, Isabella] LVR Klin Bonn, Dept Child & Adolescent Psychiat, D-53111 Bonn, Germany.
[Evers, Dagmar] LVR Klin Viersen, Dept Child & Adolescent Psychiat, Viersen, Germany.
RP Sinzig, J (reprint author), LVR Klin Bonn, Dept Child & Adolescent Psychiat, Kaiser Karl Ring 10, D-53111 Bonn, Germany.
EM judith.sinzig@lvr.de
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 50
TC 0
Z9 0
PU MANEY PUBLISHING
PI LEEDS
PA STE 1C, JOSEPHS WELL, HANOVER WALK, LEEDS LS3 1AB, W YORKS, ENGLAND
SN 2047-3869
EI 2047-3877
J9 INT J DEV DISABIL
JI Int. J. Dev. Disabil.
PD JUL
PY 2014
VL 60
IS 3
BP 144
EP 154
DI 10.1179/2047387714Y.0000000040
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AK4YG
UT WOS:000338429900004
ER
PT J
AU Geurts, H
Sinzig, J
Booth, R
Happe, F
AF Geurts, Hilde
Sinzig, Judith
Booth, Rhonda
Happe, Francesca
TI Neuropsychological heterogeneity in executive functioning in autism
spectrum disorders
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE autism; heterogeneity; executive functions; ADHD
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; PERVASIVE DEVELOPMENTAL
DISORDERS; DEFICIT HYPERACTIVITY DISORDER; ASPERGER-SYNDROME; CENTRAL
COHERENCE; CHILDREN; ADHD; PSYCHOPATHOLOGY; INDIVIDUALS; IMPAIRMENTS
AB In most research it is common to report results on a group level. For example, various studies report that children and adults with autism show executive function deficits. However, studies often differ in the pattern of findings. We believe this might be partly due to the heterogeneity of the autism population. Put differently, some people with autism might indeed have executive dysfunctions, but this does not mean that everybody with autism has such a deficit. In the current study we re-analysed published data from children with autism, children with Attention Deficit/Hyperactivity Disorder (also associated with executive dysfunction) and children without a clinical diagnosis. A surprisingly small number of children did indeed have executive function deficits. However, children with a clinical diagnosis had executive function deficits more often than those without a diagnosis. These findings show us that besides reporting findings on a group level, researchers need to report findings on an individual level. Understanding the differences between individuals with autism might help us in pinpointing differences in etiology, prognosis, and treatment response.
Different subsets of autism symptoms might be genetically partly independent. With respect to cognition, this may imply that one cognitive theory is unlikely to explain all symptoms and that there will be large individual differences in cognitive deficits/assets between individuals with autism. However, most journal articles report only group differences, treating individual differences more or less as 'noise' in the data. In the current study, we reanalyzed data from three independent studies (totaling 93 children with autism spectrum disorders (ASDs), 104 children with attention deficit hyperactivity disorder (ADHD), and 93 typically developing children) to examine the degree of heterogeneity in executive function deficits. The three main findings were that (1) only a small percentage of children with ASD had a significant deficit in measured executive function; (2) there is not just heterogeneity within ASD groups, but also across studies, and (3) in line with Nigg and colleagues (2005), only a small number of children with ADHD showed a significant inhibitory control deficit. Executive (dys)function cannot be a marker for ASD as defined in the DSM, but might have potential as a specifier like IQ and language. This is in line with the idea that the executive function account cannot be a sole explanation for ASD. The findings do suggest that an individual differences approach might give us more information on potential subtypes within the autism spectrum. Future research is needed to define and test neuropsychological subtypes and their external correlates, including etiology, prognosis, and treatment response.
C1 [Geurts, Hilde] Univ Amsterdam, Dept Psychol, Dutch Autism & ADHD Res Ctr dArc, Amsterdam, Netherlands.
[Geurts, Hilde] Dr Leo Kannerhuis, Autism Clin, Amsterdam, Netherlands.
[Sinzig, Judith] LVR Klin, Dept Child & Adolescent Psychiat, Bonn, Germany.
[Booth, Rhonda] UCL, Inst Child Hlth, London WC1E 6BT, England.
[Happe, Francesca] Kings Coll London, Inst Psychiat, Med Res Council Social Genet & Dev Psychiat Ctr, London WC2R 2LS, England.
RP Geurts, H (reprint author), Univ Amsterdam, Dept Psychol, Dutch Autism & ADHD Res Ctr dArc, Amsterdam, Netherlands.
EM H.M.Geurts@uva.nl
CR Adamo N., 2013, EUROPEAN CHILD ADOLE, P1
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World Health Organization, 2008, ICD 10 INT STAT CLAS
NR 55
TC 0
Z9 0
PU MANEY PUBLISHING
PI LEEDS
PA STE 1C, JOSEPHS WELL, HANOVER WALK, LEEDS LS3 1AB, W YORKS, ENGLAND
SN 2047-3869
EI 2047-3877
J9 INT J DEV DISABIL
JI Int. J. Dev. Disabil.
PD JUL
PY 2014
VL 60
IS 3
BP 155
EP 162
DI 10.1179/2047387714Y.0000000047
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AK4YG
UT WOS:000338429900005
ER
PT J
AU Willfors, C
Poltrago, L
Berggren, S
Coco, C
Anckarsater, H
Lichtenstein, P
Ronald, A
Bolte, S
AF Willfors, Charlotte
Poltrago, Lina
Berggren, Steve
Coco, Christina
Anckarsater, Henrik
Lichtenstein, Paul
Ronald, Angelica
Bolte, Sven
TI On the role of non-shared environment for executive functioning in ADHD:
a twin-differences design study
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Neurodevelopmental disorders; NDD; attention deficit hyperactivity
disorder; neuropsychology; neuropsychiatry; discordant twin pair design;
autism spectrum disorders; impulsivity; inhibition; concordance;
discordance; monozygotic twin pairs
ID DEFICIT HYPERACTIVITY DISORDER; ATTENTION-DEFICIT/HYPERACTIVITY
DISORDER; CARD SORTING TEST; EARLY ADOLESCENCE; BIRTH-WEIGHT; CHILDREN;
INHIBITION; CHILDHOOD; METAANALYSIS; SPECIFICITY
AB Introduction: The study of differences between monozygotic (MZ) twin pairs with respect to ADHD may provide novel leads to disentangle the environmental contribution driving its phenotypes.
Objectives: To examine non-shared environmental influences on executive function in dimensionally defined ADHD.
Methods: This study included 27 MZ twin pairs (7 female) aged 11-20 years being moderately to substantially discordant for ADHD traits as assessed by the Attention Problem (AP) scale of the Child Behavior Checklist/Adult Behavior Checklist. The twins completed the Wisconsin Card Sorting Test (WCST) for cognitive flexibility and the Tower Test (TT) for foresighted planning. Two statistical approaches were used to analyze the data. First, correlations between ADHD trait intra-pair differences and WCST and TT scores were calculated. Second, the significance of those intra-pair differences on WCST and TT, using ADHD as categorical variable in clinically discordant pairs, was tested.
Results: Both analysing strategies revealed a link between ADHD on one hand, and foresighted planning and inhibitory control on the other hand mediated by non-shared environmental factors. The first statistical approach yielded positive correlations between intra-pairs differences on the AP scale and intra-pair differences on two subscales of the TT: total rule violation (r(s)=0.41) and rule-violation-per-item-ratio (r(s)=0.38). Findings in categorically discordant pairs were consistent, showing within-pair differences on the same subtests (z-1.63, P=0.05, one-tailed and z=-1.60, P=0.05, one-tailed).
Conclusions: Findings confirm previous research suggesting ADHD to be a quantitative extreme on a continuum with executive functions being a cognitive marker of ADHD traits. Non-shared environmental factors appear to influence planning skills and inhibitory control.
C1 [Willfors, Charlotte; Poltrago, Lina; Berggren, Steve; Bolte, Sven] Karolinska Inst, Ctr Neurodev Disorders, Pediat Neuropsychiat Unit, Dept Womens & Childrens Hlth, Stockholm, Sweden.
[Poltrago, Lina] Prima Barn & Vuxenpsykiatri AB, Stockholm, Sweden.
[Berggren, Steve; Coco, Christina; Bolte, Sven] Stockholm Cty Council, Div Child & Adolescent Psychiat, Stockholm, Sweden.
[Anckarsater, Henrik] Univ Gothenburg, Gothenburg, Sweden.
[Lichtenstein, Paul] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
[Ronald, Angelica] Birkbeck Univ London, Dept Psychol Sci, London, England.
RP Bolte, S (reprint author), Karolinska Inst, Ctr Neurodev Disorders, Neuropsychiat Unit, Stockholm, Sweden.
EM sven.bolte@ki.se
RI Ronald, Angelica/C-7812-2009
OI Ronald, Angelica/0000-0002-9576-2176
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NR 60
TC 0
Z9 0
PU MANEY PUBLISHING
PI LEEDS
PA STE 1C, JOSEPHS WELL, HANOVER WALK, LEEDS LS3 1AB, W YORKS, ENGLAND
SN 2047-3869
EI 2047-3877
J9 INT J DEV DISABIL
JI Int. J. Dev. Disabil.
PD JUL
PY 2014
VL 60
IS 3
BP 163
EP 173
DI 10.1179/2047387714Y.0000000041
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AK4YG
UT WOS:000338429900006
ER
PT J
AU Kretschmer, A
Lampmann, SA
Altgassen, M
AF Kretschmer, Anett
Lampmann, Sara-Ann
Altgassen, Mareike
TI Relations between moral reasoning, theory of mind and executive
functions in children with autism spectrum disorders
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE moral reasoning; executive functioning; autism spectrum disorders
ID PERVASIVE DEVELOPMENTAL DISORDERS; WORKING-MEMORY;
INDIVIDUAL-DIFFERENCES; INHIBITORY CONTROL; ASPERGER-SYNDROME;
SOCIAL-BEHAVIOR; EMPATHY; JUDGMENT; ADULTS; COGNITION
AB The aims of the present study were to investigate relations between moral reasoning, executive functioning and Theory of Mind in children with autism spectrum disorders (ASD) compared to typically developing children and to apply the dual aspect theory of Lind (1978, 2008) to moral reasoning in individuals with and without ASD. Overall, 21 children with ASD (age: M=10.22, SD=1.55) and 21 controls (age: M=9.83, SD=2.36) participated and completed the Moral Reasoning Test for children from Zierer (2006), which tests affective and cognitive aspects of moral reasoning. In addition, participants completed two Theory of Mind tasks, a working memory and an inhibition test. Correlational analyses revealed significant relations between cognitive moral reasoning and inhibitory control as well as between Theory of Mind and inhibition for the ASD group. Thus, inhibitory control, but not working memory and Theory of Mind, might be one key mechanism underlying moral reasoning, and possibly ToM development in children with ASD. Analyses of variance revealed no significant differences in cognitive and affective aspects of moral reasoning between individuals with ASD and typically developing children. Both groups did also not differ in Theory of Mind and executive functioning. Findings are discussed in light of the heterogeneous literature.
C1 [Kretschmer, Anett; Lampmann, Sara-Ann; Altgassen, Mareike] Tech Univ Dresden, Dresden, Germany.
[Altgassen, Mareike] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands.
RP Kretschmer, A (reprint author), Tech Univ Dresden, Dresden, Germany.
EM anett.kretschmer@tu-dresden.de
RI Altgassen, Mareike/J-3048-2012
CR American Psychiatric Association (APA), 2000, DIAGNOSTIC AND STATI
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Zimmermann P., 2007, TESTBATTERIE ZUR AUF
NR 55
TC 0
Z9 0
PU MANEY PUBLISHING
PI LEEDS
PA STE 1C, JOSEPHS WELL, HANOVER WALK, LEEDS LS3 1AB, W YORKS, ENGLAND
SN 2047-3869
EI 2047-3877
J9 INT J DEV DISABIL
JI Int. J. Dev. Disabil.
PD JUL
PY 2014
VL 60
IS 3
BP 174
EP 183
DI 10.1179/2047387714Y.0000000045
PG 10
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AK4YG
UT WOS:000338429900007
ER
PT J
AU Altgassen, M
Koch, A
AF Altgassen, Mareike
Koch, Andrea
TI Impact of inhibitory load on remembering delayed intentions in autism
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE autism; PDD; prospective memory; executive function; inhibition
ID PROSPECTIVE MEMORY; SPECTRUM DISORDER; EXECUTIVE FUNCTIONS;
RETROSPECTIVE-MEMORY; FUNCTIONING AUTISM; ASPERGERS-SYNDROME; ADULTS;
CHILDREN; RECOGNITION; RETRIEVAL
AB Objective: Research on prospective memory (PM) in autism spectrum disorders (ASD) is scarce and inconsistent. Differences in results have been attributed to differences in executive control demands of the respective PM tasks. However, so far no study has systematically and experimentally manipulated executive control load. The present study set out to explore the impact of varying inhibitory control demands on PM performance in ASD.
Method: Twenty-two adults with ASD and 22 age-, gender- and cognitive ability-matched controls were asked to work on a computerised word categorization task into which an event-based PM task was embedded. In addition, they were required to work on a task that put either low or high load on inhibitory resources.
Results: With regards to the event-based PM task, no significant effects emerged. Controls outperformed individuals with ASD on the ongoing task performance and ongoing task performance varied with inhibition load. Similarly, inhibition load affected performance on the inhibition task; here, no group effects were found.
Conclusion: Findings suggest spared event-based PM performance in ASD regardless of inhibition load. However, results might be limited by ceiling effects and future studies are needed to investigate to explore inhibition effects using more difficult tasks.
C1 [Altgassen, Mareike] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, NL-6500 HE Nijmegen, Netherlands.
[Altgassen, Mareike; Koch, Andrea] Tech Univ Dresden, Dept Psychol, Dresden, Germany.
RP Altgassen, M (reprint author), Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, POB 9104, NL-6500 HE Nijmegen, Netherlands.
EM a.altgassen@donders.ru.nl
RI Altgassen, Mareike/J-3048-2012
CR Altgassen M., J ATTENT DISOR
Altgassen M, 2012, J AUTISM DEV DISORD, V42, P2141, DOI 10.1007/s10803-012-1466-3
Altgassen M, 2010, J NEURODEV DISORD, V2, P2, DOI 10.1007/s11689-009-9030-y
Altgassen M, 2009, BRAIN IMPAIR, V10, P52
Altgassen M, 2008, J CLIN EXP NEUROPSYC, V30, P777, DOI 10.1080/13803390701779552
(APA) APA, 2000, DIAGN STAT MAN MENT
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NR 39
TC 0
Z9 0
PU MANEY PUBLISHING
PI LEEDS
PA STE 1C, JOSEPHS WELL, HANOVER WALK, LEEDS LS3 1AB, W YORKS, ENGLAND
SN 2047-3869
EI 2047-3877
J9 INT J DEV DISABIL
JI Int. J. Dev. Disabil.
PD JUL
PY 2014
VL 60
IS 3
BP 198
EP 204
DI 10.1179/2047387714Y.0000000042
PG 7
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AK4YG
UT WOS:000338429900009
ER
PT J
AU Martin, J
Cooper, M
Hamshere, ML
Pocklington, A
Scherer, SW
Kent, L
Gill, M
Owen, MJ
Williams, N
O'Donovan, MC
Thapar, A
Holmans, P
AF Martin, Joanna
Cooper, Miriam
Hamshere, Marian L.
Pocklington, Andrew
Scherer, Stephen W.
Kent, Lindsey
Gill, Michael
Owen, Michael J.
Williams, Nigel
O'Donovan, Michael C.
Thapar, Anita
Holmans, Peter
TI Biological Overlap of Attention-Deficit/Hyperactivity Disorder and
Autism Spectrum Disorder: Evidence From Copy Number Variants
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE ADHD; ASD; pathway analysis; CNVs; comorbidity
ID DEFICIT-HYPERACTIVITY-DISORDER; GENOME-WIDE ANALYSIS;
MENTAL-RETARDATION; TWIN SAMPLE; ADHD; DUPLICATIONS; ASSOCIATION;
RELIABILITY; INTERVIEW; DELETIONS
AB Objective: Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) often co-occur and share genetic risks. The aim of this analysis was to determine more broadly whether ADHD and ASD share biological underpinnings. Method: We compared copy number variant (CNV) data from 727 children with ADHD and 5,081 population controls to data from 996 individuals with ASD and an independent set of 1,287 controls. Using pathway analyses, we investigated whether CNVs observed in individuals with ADHD have an impact on genes in the same biological pathways as on those observed in individuals with ASD. Results: The results suggest that the biological pathways affected by CNVs in ADHD overlap with those affected by CNVs in ASD more than would be expected by chance. Moreover, this was true even when specific CNV regions common to both disorders were excluded from the analysis. After correction for multiple testing, genes involved in 3 biological processes (nicotinic acetylcholine receptor signalling pathway, cell division, and response to drug) showed significant enrichment for case CNV hits in the combined ADHD and ASD sample. Conclusion: The results of this study indicate the presence of significant overlap of shared biological processes disrupted by large rare CNVs in children with these 2 neurodevelopmental conditions.
C1 [Martin, Joanna; Cooper, Miriam; Hamshere, Marian L.; Pocklington, Andrew; Owen, Michael J.; Williams, Nigel; O'Donovan, Michael C.; Thapar, Anita; Holmans, Peter] Cardiff Univ, MRC, Ctr Neuropsychiat Genet & Genom, Inst Psychol Med & Clin Neurosci,Sch Med, Cardiff CF24 4HQ, S Glam, Wales.
[Scherer, Stephen W.] Hosp Sick Children, Toronto, ON M5G 1X8, Canada.
[Scherer, Stephen W.] Univ Toronto, Toronto, ON M5S 1A1, Canada.
[Kent, Lindsey] Univ St Andrews, Bute Med Sch, St Andrews KY16 9AJ, Fife, Scotland.
[Gill, Michael] Trinity Ctr Hlth Sci, Dublin, Ireland.
RP Martin, J (reprint author), Cardiff Univ, MRC, Ctr Neuropsychiat Genet & Genom, Inst Psychol Med & Clin Neurosci,Sch Med, Hadyn Ellis Bldg,Maindy Rd, Cardiff CF24 4HQ, S Glam, Wales.
RI Scherer, Stephen /B-3785-2013; Holmans, Peter/F-4518-2015
OI Scherer, Stephen /0000-0002-8326-1999; Holmans,
Peter/0000-0003-0870-9412
FU Medical Research Council (UK); Baily Thomas Charitable Trust; Wellcome
Trust and Action Research; University of Toronto McLaughlin Centre;
Canadian Institutes of Health Research; Genome Canada
FX This work has been supported by the Medical Research Council (UK), Baily
Thomas Charitable Trust, the Wellcome Trust and Action Research, the
University of Toronto McLaughlin Centre, the Canadian Institutes of
Health Research, and Genome Canada.
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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 0890-8567
EI 1527-5418
J9 J AM ACAD CHILD PSY
JI J. Am. Acad. Child Adolesc. Psychiatr.
PD JUL
PY 2014
VL 53
IS 7
BP 761
EP 770
DI 10.1016/j.jaac.2014.03.004
PG 10
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AK2SI
UT WOS:000338269400009
PM 24954825
ER
PT J
AU Szatkiewicz, JP
O'Dushlaine, C
Chen, G
Chambert, K
Moran, JL
Neale, BM
Fromer, M
Ruderfer, D
Akterin, S
Bergen, SE
Kahler, A
Magnusson, PKE
Kim, Y
Crowley, JJ
Rees, E
Kirov, G
O'Donovan, MC
Owen, MJ
Walters, J
Scolnick, E
Sklar, P
Purcell, S
Hultman, CM
McCarroll, SA
Sullivan, PF
AF Szatkiewicz, J. P.
O'Dushlaine, C.
Chen, G.
Chambert, K.
Moran, J. L.
Neale, B. M.
Fromer, M.
Ruderfer, D.
Akterin, S.
Bergen, S. E.
Kaehler, A.
Magnusson, P. K. E.
Kim, Y.
Crowley, J. J.
Rees, E.
Kirov, G.
O'Donovan, M. C.
Owen, M. J.
Walters, J.
Scolnick, E.
Sklar, P.
Purcell, S.
Hultman, C. M.
McCarroll, S. A.
Sullivan, P. F.
TI Copy number variation in schizophrenia in Sweden
SO MOLECULAR PSYCHIATRY
LA English
DT Article
ID GENOME-WIDE ASSOCIATION; DE-NOVO CNVS; BIPOLAR DISORDER;
PSYCHIATRIC-DISORDERS; GENES; GENETICS; RISK; VARIANTS; DISEASE;
PARTICIPATION
AB Schizophrenia (SCZ) is a highly heritable neuropsychiatric disorder of complex genetic etiology. Previous genome-wide surveys have revealed a greater burden of large, rare copy number variations (CNVs) in SCZ cases and identified multiple rare recurrent CNVs that increase risk of SCZ although with incomplete penetrance and pleiotropic effects. Identification of additional recurrent CNVs and biological pathways enriched for SCZ CNVs requires greater sample sizes. We conducted a genome-wide survey for CNVs associated with SCZ using a Swedish national sample (4719 cases and 5917 controls). High-confidence CNV calls were generated using genotyping array intensity data, and their effect on risk of SCZ was measured. Our data confirm increased burden of large, rare CNVs in SCZ cases as well as significant associations for recurrent 16p11.2 duplications, 22q11.2 deletions and 3q29 deletions. We report a novel association for 17q12 duplications (odds ratio = 4.16, P = 0.018), previously associated with autism and mental retardation but not SCZ. Intriguingly, gene set association analyses implicate biological pathways previously associated with SCZ through common variation and exome sequencing (calcium channel signaling and binding partners of the fragile X mental retardation protein). We found significantly increased burden of the largest CNVs (>500 kb) in genes present in the postsynaptic density, in genomic regions implicated via SCZ genome-wide association studies and in gene products localized to mitochondria and cytoplasm. Our findings suggest that multiple lines of genomic inquiry-genome-wide screens for CNVs, common variation and exonic variation-are converging on similar sets of pathways and/or genes.
C1 [Szatkiewicz, J. P.; Chen, G.; Kim, Y.; Crowley, J. J.; Sullivan, P. F.] Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA.
[O'Dushlaine, C.; Chambert, K.; Moran, J. L.; Neale, B. M.; Bergen, S. E.; Scolnick, E.; Purcell, S.; McCarroll, S. A.] Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA USA.
[Fromer, M.; Ruderfer, D.; Sklar, P.; Purcell, S.] Mt Sinai Sch Med, Dept Psychiat, New York, NY USA.
[Akterin, S.; Bergen, S. E.; Kaehler, A.; Magnusson, P. K. E.; Hultman, C. M.; Sullivan, P. F.] Karolinska Inst, Dept Med Epidemiol, Stockholm, Sweden.
[Rees, E.; Kirov, G.; O'Donovan, M. C.; Owen, M. J.; Walters, J.] Cardiff Univ, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, Wales.
[McCarroll, S. A.] Harvard Univ, Sch Med, Dept Genet, Boston, MA USA.
RP Sullivan, PF (reprint author), Univ N Carolina, Dept Genet, CB 7264,5097 Genom Med Bldg, Chapel Hill, NC 27599 USA.
EM pfsulliv@med.unc.edu
FU NIMH [R01 MH077139, R01 MH095034, K01 MH093517]; Stanley Center for
Psychiatric Research; Stanley Medical Research Institute; Sylvan Herman
Foundation; Karolinska Institutet; Karolinska University Hospital;
Swedish Research Council; Swedish County Council; Soderstrom Konigska
Foundation; Netherlands Scientific Organization [NWO 645-000-003];
Medical Research Council (MRC) Centre Grant [G0800509]; Medical Research
Council (MRC) Program Grant [G0801418]; European Community
[HEALTH-F2-2010-241909]; MRC; MRC/Welsh Assembly Government; British
Medical Association
FX We are deeply grateful for the participation of all subjects
contributing to this research and to the team that conducted the
fieldwork (Emma Flordal-Thelander, Ann-Britt Holmgren, Marie Hallin,
Marie Lundin, Ann-Kristin Sundberg, Christina Pettersson, Radja
Satgunanthan-Dawoud, Sonja Hassellund, Malin Radstrom, Birgitta
Ohlander, Leila Nyren and Isabelle Kizling). Funding support was
provided by NIMH R01 MH077139 (Sullivan), NIMH R01 MH095034 (Sklar),
NIMH K01 MH093517 Szatklewicz), the Stanley Center for Psychiatric
Research, the Stanley Medical Research Institute, the Sylvan Herman
Foundation, the Karolinska Institutet, Karolinska University Hospital,
the Swedish Research Council, the Swedish County Council, the Soderstrom
Konigska Foundation and the Netherlands Scientific Organization (NWO
645-000-003). The work at UK was funded by Medical Research Council
(MRC) Centre (G0800509) and Program Grants (G0801418), the European
Community's Seventh Framework Programme (HEALTH-F2-2010-241909 (Project
EU-GEI), an MRC PhD Studentship to ER, a clinical research fellowship to
JTRW from the MRC/Welsh Assembly Government and the Margaret Temple
Award from the British Medical Association. The UK samples were
genotyped at the Broad Institute, USA, funded by a philanthropic gift to
the Stanley Center for Psychiatric Research. The funders had no role in
study design, execution, analysis and manuscript preparation. We thank
two anonymous reviewers for their helpful comments. All authors reviewed
and approved the final version of the manuscript. The corresponding
authors had access to the full data set.
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NR 68
TC 11
Z9 11
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD JUL
PY 2014
VL 19
IS 7
BP 762
EP 773
DI 10.1038/mp.2014.40
PG 12
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AK1OV
UT WOS:000338185300005
PM 24776740
ER
PT J
AU Toma, C
Torrico, B
Hervas, A
Valdes-Mas, R
Tristan-Noguero, A
Padillo, V
Maristany, M
Salgado, M
Arenas, C
Puente, XS
Bayes, M
Cormand, B
AF Toma, C.
Torrico, B.
Hervas, A.
Valdes-Mas, R.
Tristan-Noguero, A.
Padillo, V.
Maristany, M.
Salgado, M.
Arenas, C.
Puente, X. S.
Bayes, M.
Cormand, B.
TI Exome sequencing in multiplex autism families suggests a major role for
heterozygous truncating mutations
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE autism spectrum disorder; exome sequencing; multiplex families; novel
candidate genes; rare genetic variants; truncating mutations
ID DE-NOVO MUTATIONS; SPECTRUM DISORDERS; DEVELOPMENTAL DELAY; GENES;
SCHIZOPHRENIA; IDENTIFICATION; PHENOTYPES; 17P13.3; RISK; BTK
AB Autism is a severe neurodevelopmental disorder, the aetiology of which remains mainly unknown. Family and twin studies provide strong evidence that genetic factors have a major role in the aetiology of this disease. Recently, whole exome sequencing (WES) efforts have focused mainly on rare de novo variants in singleton families. Although these studies have provided pioneering insights, de novo variants probably explain only a small proportion of the autism risk variance. In this study, we performed exome sequencing of 10 autism multiplex families with the aim of investigating the role of rare variants that are coinherited in the affected sibs. The pool of variants selected in our study is enriched with genes involved in neuronal functions or previously reported in psychiatric disorders, as shown by Gene Ontology analysis and by browsing the Neurocarta database. Our data suggest that rare truncating heterozygous variants have a predominant role in the aetiology of autism. Using a multiple linear regression model, we found that the burden of truncating mutations correlates with a lower non- verbal intelligence quotient (NVIQ). Also, the number of truncating mutations that were transmitted to the affected sibs was significantly higher (twofold) than those not transmitted. Protein-protein interaction analysis performed with our list of mutated genes revealed that the postsynaptic YWHAZ is the most interconnected node of the network. Among the genes found disrupted in our study, there is evidence suggesting that YWHAZ and also the X-linked DRP2 may be considered as novel autism candidate genes.
C1 [Toma, C.; Torrico, B.; Tristan-Noguero, A.; Cormand, B.] Univ Barcelona, Dept Genet, Barcelona 08028, Spain.
[Toma, C.; Torrico, B.; Cormand, B.] Biomed Network Res Ctr Rare Dis CIBERER, Barcelona, Spain.
[Hervas, A.] Hosp Univ Mutua Terrassa, Child & Adolescent Mental Hlth Unit, Barcelona, Spain.
[Valdes-Mas, R.; Puente, X. S.] Univ Oviedo IUOPA, Dept Biochem & Mol Biol, Barcelona, Spain.
[Padillo, V.; Maristany, M.] Hosp San Juan Dios, Dev Disorders Unit UETD, Barcelona, Spain.
[Arenas, C.] Univ Barcelona, Dept Stat, Barcelona 08028, Spain.
[Bayes, M.] Natl Ctr Genom Anal CNAG, Barcelona, Spain.
[Cormand, B.] Univ Barcelona, Inst Biomed, Barcelona 08028, Spain.
RP Cormand, B (reprint author), Univ Barcelona, Fac Biol, Dept Genet, Avinguda Diagonal 643,Edifici Prevosti,3a Planta, Barcelona 08028, Spain.
EM bcormand@ub.edu
RI Toma, Claudio/L-7853-2014
OI Toma, Claudio/0000-0003-3901-7507
FU European Union [PIEF-GA-2009-254930]; AGAUR [2009SGR00971]; Fundacio La
Marato de TV3 [092010]; Fundacion Alicia Koplowitz; Ministerio de
Economia y Competitividad, Spain [SAF2012-33484, SAF2010-21165]
FX We are grateful to all families for their participation in our study. We
thank Patricia Romaris (Hospital Universitari Mutua de Terrassa) for
contributing to clinical delineation of patients and Lara Nonell and
Eulalia Puigdecanet (Servei d'Analisi de Micorarrays, IMIM-Hospital del
Mar, Parc de Recerca Biomedica de Barcelona) for their contribution to
the CNV studies. Exome sequencing services were provided by the National
Centre for Genomic Analysis (CNAG). CT was supported by the European
Union (Marie Curie, PIEF-GA-2009-254930) and BT by AGAUR (FI grant).
Financial support was received from 'Fundacio La Marato de TV3'
(092010), 'Fundacion Alicia Koplowitz', AGAUR (2009SGR00971) and
'Ministerio de Economia y Competitividad, Spain' (SAF2012-33484,
SAF2010-21165).
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NR 45
TC 6
Z9 7
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD JUL
PY 2014
VL 19
IS 7
BP 784
EP 790
DI 10.1038/mp.2013.106
PG 7
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AK1OV
UT WOS:000338185300007
PM 23999528
ER
PT J
AU Zaits, MN
Rennert, OM
AF Zaits, M. N.
Rennert, O. M.
TI Identification of differentially expressed microRNAs across the
developing human brain
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE brain development; gene expression; microRNA; sex differences
ID SEX-DIFFERENCES; TRANSCRIPTION FACTORS; GENE-REGULATION; DISEASE;
NEUROSCIENCE; ANNOTATION; EVOLUTION; ROLES; RNA
AB We present a spatio-temporal assessment of microRNA (miRNA) expression throughout early human brain development. We assessed the prefrontal cortex, hippocampus and cerebellum of 18 normal human donor brains spanning infancy through adolescence by RNA-seq. We discovered differentially expressed miRNAs and broad miRNA patterns across both temporal and spatial dimensions, and between male and female prefrontal cortex. Putative target genes of the differentially expressed miRNAs were identified, which demonstrated functional enrichment for transcription regulation, synaptogenesis and other basic intracellular processes. Sex-biased miRNAs also targeted genes related to Wnt and transforming growth factor-beta pathways. The differentially expressed miRNA targets were highly enriched for gene sets related to autism, schizophrenia, bipolar disorder and depression, but not neurodegenerative diseases, epilepsy or other adult-onset psychiatric diseases. Our results suggest critical roles for the identified miRNAs in transcriptional networks of the developing human brain and neurodevelopmental disorders.
C1 [Zaits, M. N.; Rennert, O. M.] NICHHD, NIH, Bethesda, MD 20814 USA.
[Zaits, M. N.] Univ Cambridge, NIH, Biomed Scholars Program, Cambridge, England.
[Zaits, M. N.] Baylor Coll Med MSTP, Houston, TX USA.
RP Zaits, MN (reprint author), NICHHD, NIH, 49 Convent Dr,Bldg 49,Room 2C08, Bethesda, MD 20814 USA.
EM ziatsm@mail.nih.gov; rennerto@mail.nih.gov
FU National Institute of Child Health and Human Development, NIH; Baylor
College of Medicine Medical Scientist Training Program (MSTP);
NIH-Oxford/Cambridge Biomedical Scholars Program
FX We thank the Allen Institute for Brain Science. This work was supported
by the Intramural Research Program (IRP) of the National Institute of
Child Health and Human Development, NIH. MNZ was also supported by the
Baylor College of Medicine Medical Scientist Training Program (MSTP) and
the NIH-Oxford/Cambridge Biomedical Scholars Program. 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 23
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD JUL
PY 2014
VL 19
IS 7
BP 848
EP 852
DI 10.1038/mp.2013.93
PG 5
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AK1OV
UT WOS:000338185300014
ER
PT J
AU Lucas, R
Norbury, CF
AF Lucas, Rebecca
Norbury, Courtenay Frazier
TI Orthography facilitates vocabulary learning for children with autism
spectrum disorders (ASD)
SO QUARTERLY JOURNAL OF EXPERIMENTAL PSYCHOLOGY
LA English
DT Article
DE Orthography; Reading; Vocabulary; Word learning; Autism spectrum
disorder
ID PICTURE BOOKS; COMPREHENSION DIFFICULTIES; WORD-RECOGNITION; LANGUAGE;
CONSOLIDATION; SPEECH; SLEEP; INFORMATION; ACQUISITION; INTEGRATION
AB This study investigated the extent to which children with autism spectrum disorders (ASD) can use orthography to facilitate vocabulary learning, as is the case for typically developing (TD) children. Forty-one children aged 7-12 years, 20 with a formal diagnosis of ASD and 21 TD peers, were taught 16 low-frequency concrete science words, such as "breccia". Half of the stimuli had the written word presented alongside a picture of the target item (orthography present: OP) while the remaining items were taught with orthography absent (OA). During the learning phase, eye movements were recorded; there were no group differences in the time spent fixating the written form. Production, comprehension, and recognition of orthographic forms of new words were assessed immediately after learning and again after a 24-hour delay. The vocabulary learning of both groups was facilitated by the presence of orthography. Overall, the groups did not differ in comprehension of new words or recognition of new orthographic forms, although the children with ASD demonstrated superior phonological learning (as measured by a picture naming task) relative to TD peers. Additionally, both groups retained or increased new knowledge after 24 hours. The results suggest that presenting the written form during oral vocabulary teaching will enhance learning and provide a mechanism for children with ASD to increase word knowledge despite potential limitations in social learning.
C1 [Lucas, Rebecca; Norbury, Courtenay Frazier] Univ London, Dept Psychol, Egham TW20 0EX, Surrey, England.
RP Lucas, R (reprint author), Univ London, Dept Psychol, Egham TW20 0EX, Surrey, England.
EM rebecca.lucas.2010@rhul.ac.uk
FU Royal Holloway, University of London
FX This research was funded by a Reid Scholarship from Royal Holloway,
University of London.
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NR 65
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1747-0218
EI 1747-0226
J9 Q J EXP PSYCHOL
JI Q. J. Exp. Psychol.
PD JUL
PY 2014
VL 67
IS 7
BP 1317
EP 1334
DI 10.1080/17470218.2013.859714
PG 18
WC Psychology, Biological; Physiology; Psychology; Psychology, Experimental
SC Psychology; Physiology
GA AJ9FP
UT WOS:000338013400005
PM 24313313
ER
PT J
AU Birnbaum, R
Jaffe, AE
Hyde, TM
Kleinman, JE
Weinberger, DR
AF Birnbaum, Rebecca
Jaffe, Andrew E.
Hyde, Thomas M.
Kleinman, Joel E.
Weinberger, Daniel R.
TI Prenatal Expression Patterns of Genes Associated With Neuropsychiatric
Disorders
SO AMERICAN JOURNAL OF PSYCHIATRY
LA English
DT Article
ID OBSTETRIC COMPLICATIONS; HUMAN BRAIN; SCHIZOPHRENIA; RISK;
NEUROPATHOLOGY; TRANSCRIPTOME; METAANALYSIS; DISRUPTION; MUTATIONS;
ISOFORM
AB Objective: Neurodevelopmental disorders presumably involve events that occur during brain development. The authors hypothesized that neuropsychiatric disorders considered to be developmental in etiology are associated with susceptibility genes that are relatively upregulated during fetal life (i.e., differentially expressed).
Method: The authors investigated the presence of prenatal expression enrichment of susceptibility genes systematically, as composite gene sets associated with six neuropsychiatric disorders in the microarray-based "BrainCloud" dorsolateral prefrontal cortex transcriptome.
Results: Using a fetal/postnatal log2-fold change threshold of 0.5, genes associated with syndromic neurodevelopmental disorders (N=31 genes, p=3.37x10(-3)), intellectual disability (N=88 genes, p=5.53x10(-3)), and autism spectrum disorder (N=242 genes, p=3.45x10(-4)) were relatively, enriched in prenatal transcript abundance, compared with the overall transcriptome. Genes associated with schizophrenia by genome-wide association studies were not preferentially fetally expressed (N=106 genes, p=0.46), nor were genes associated with schizophrenia by exome sequencing (N=2.12 genes, p=0.21), but specific genes within copy-number variant regions associated with schizophrenia were relatively enriched in prenatal transcript abundance, and genes associated with schizophrenia by meta-analysis were functionally enriched for some neurodevelopmental processes. In contrast, genes associated with neurode-generative disorders were significantly underexpressed during fetal life (N=46 genes, p=1.67x10(-3)).
Conclusions: The authors found evidence for relative prenatal enrichment of putative susceptibility genes for syndromic neurodevelopmental disorders, intellectual disability, and autism spectrum disorder. Future transcriptome-level association studies should evaluate regions other than the dorsolateral prefrontal cortex, at other time points, and incorporate further RNA sequencing analyses.
C1 [Weinberger, Daniel R.] Lieber Inst Brain Dev, Baltimore, MD 21205 USA.
Johns Hopkins Sch Med, Dept Psychiat, Balitmore, MD USA.
Johns Hopkins Sch Med, Dept Neurol, Balitmore, MD USA.
Johns Hopkins Sch Med, Dept Neurosci, Balitmore, MD USA.
Johns Hopkins Sch Med, Inst Med Genet, Baltimore, MD 21205 USA.
RP Weinberger, DR (reprint author), Lieber Inst Brain Dev, Baltimore, MD 21205 USA.
EM drweinberger@libd.org
FU NIH [5T32MH015330-36]
FX Dr. Birnbaum receives support from an NIH T32, 5T32MH015330-36
CR Allen Institute for Brain Science, 2011, BRAINSP ATL DEV HUM
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NR 38
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 JUL
PY 2014
VL 171
IS 7
BP 758
EP 767
DI 10.1176/appi.ajp.2014.13111452
PG 10
WC Psychiatry
SC Psychiatry
GA AJ9AD
UT WOS:000337998300015
PM 24874100
ER
PT J
AU Skakkebk, A
Bojesen, A
Kristensen, MK
Cohen, A
Hougaard, DM
Hertz, JM
Fedder, J
Laurberg, P
Wallentin, M
Ostergaard, JR
Pedersen, AD
Gravholt, CH
AF Skakkebk, A.
Bojesen, A.
Kristensen, M. K.
Cohen, A.
Hougaard, D. M.
Hertz, J. M.
Fedder, J.
Laurberg, P.
Wallentin, M.
Ostergaard, J. R.
Pedersen, A. D.
Gravholt, C. H.
TI Neuropsychology and brain morphology in Klinefelter syndrome - the
impact of genetics
SO ANDROLOGY
LA English
DT Article
DE brain morphology; Epigenetics; Klinefelter syndrome; neuropsychology;
testosterone
ID ANDROGEN RECEPTOR GENE; X-CHROMOSOME INACTIVATION; CAG REPEAT
POLYMORPHISM; PERSONALITY-TRAITS; COGNITIVE FUNCTION; CANDIDATE GENES;
OLDER MEN; TESTOSTERONE; PHENOTYPE; ASSOCIATION
AB Klinefelter syndrome (KS, 47,XXY) is associated with increased psychiatric morbidity and cognitive disabilities, although the neuropsychological phenotype shows great variability. Androgen receptor polymorphism (CAG repeat length), skewed X-chromosome inactivation and parent-of-origin of the extra X-chromosome have been suggested to influence cognitive function and psychological traits. These issues have not been clarified for KS patients. We studied X-chromosome inactivation pattern, CAG repeat length and parent-of-origin in relation to educational and cohabitation status, personality and autism traits, psychological distress, cognitive function and brain volumes in 73 KS patients and 73 controls. Grey matter (GM) volume of left insula was significantly decreased in KS patients with skewed X-inactivation (z=5.78) and we observed a borderline significant difference in global brain matter volume where KS patients with skewed X-chromosome inactivation tended to have smaller brains. Skewed X-inactivation, CAG repeat length and parent-of-origin were not correlated with educational and marital status, personality traits, autism traits, and psychological distress, prevalence of depression and anxiety or cognitive function. Interestingly our results regarding brain volumes indicate that X-inactivation has an influence on GM volume in left insula and might also be related to global GM volume, indicating a possible effect of X-linked genes on the development of GM volume in KS patient. Skewed X-inactivation, CAG repeat length and parent-of-origin have no impact on the neuropsychological phenotype in KS (http://www.clinicaltrials.gov (Clinical trial NCT00999310)).
C1 [Skakkebk, A.; Gravholt, C. H.] Aarhus Univ Hosp, Dept Endocrinol & Internal Med MEA, DK-8000 Aarhus C, Denmark.
[Bojesen, A.] Sygehus Lillebaelt, Vejle Hosp, Dept Clin Genet, Vejle, Denmark.
[Kristensen, M. K.] Odense Univ Clin, Dept Mental Hlth, Odense, Denmark.
[Cohen, A.; Hougaard, D. M.] Statens Serum Inst, Dept Clin Biochem Immunol & Genet, Sect Neonatal Screening & Hormones, DK-2300 Copenhagen, Denmark.
[Hertz, J. M.] Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense, Denmark.
[Laurberg, P.] Odense Univ Hosp, Dept Gynecol & Obstet, Fertil Clin, DK-5000 Odense, Denmark.
[Laurberg, P.] Aalborg Univ Hosp, Dept Endocrinol, Aalborg, Denmark.
[Wallentin, M.] Aarhus Univ Hosp, Ctr Functionally Integrat Neurosci, DK-8000 Aarhus, Denmark.
[Wallentin, M.] Aarhus Univ, Ctr Semiot, Aarhus, Denmark.
[Ostergaard, J. R.] Aarhus Univ Hosp, Dept Pediat, Ctr Rare Dis, DK-8000 Aarhus, Denmark.
[Pedersen, A. D.] Vejleford Rehabil Ctr, Stouby, Denmark.
[Pedersen, A. D.] Aarhus Univ, Dept Psychol & Behav Sci, Aarhus, Denmark.
[Gravholt, C. H.] Aarhus Univ Hosp, Dept Mol Med, DK-8000 Aarhus, Denmark.
RP Skakkebk, A (reprint author), Aarhus Univ Hosp, Dept Endocrinol & Internal Med MEA, DK-8000 Aarhus C, Denmark.
EM asj@ki.au.dk
FU Lundbeck Foundation; Augustinus Foundation; Aase and Einar Danielsen
Foundation; University of Aarhus; Novo Nordisk Foundation
FX This study was supported by grants from the Lundbeck Foundation, the
Augustinus Foundation and Aase and Einar Danielsen Foundation. A. S.
received a research fellowship from the University of Aarhus. C. H. G.
was supported by a personal clinical research grant from the Novo
Nordisk Foundation. We would like to thank Eva Schriver, Merete Moller,
Dorte Wulff, Susanne Sorensen, Lone Kvist Dora Zeidler, Michael Geneser
and Kaja Skovgard Jensen for their technical assistance.
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Vermeersch H, 2010, EUR J ENDOCRINOL, V163, P319, DOI 10.1530/EJE-10-0090
Westberg L, 2009, J PSYCHIATR NEUROSCI, V34, P205
Wilkinson LS, 2007, NAT REV NEUROSCI, V8, P832, DOI 10.1038/nrn2235
Yaffe K, 2003, BIOL PSYCHIAT, V54, P943, DOI 10.1016/S0006-3223(03)00115-X
Zeger MPD, 2008, J PEDIATR, V152, P716, DOI 10.1016/j.jpeds.2007.10.019
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Zitzmann M, 2004, J CLIN ENDOCR METAB, V89, P6208, DOI 10.1210/jc.2004-1424
NR 55
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 2047-2919
EI 2047-2927
J9 ANDROLOGY-US
JI Andrology
PD JUL
PY 2014
VL 2
IS 4
BP 632
EP 640
DI 10.1111/j.2047-2927.2014.00229.x
PG 9
WC Andrology
SC Endocrinology & Metabolism
GA AJ9NM
UT WOS:000338038400018
PM 24865607
ER
PT J
AU Prasodjo, A
Pfeiffer, CM
Fazili, Z
Xu, YY
Liddy, S
Yolton, K
Savitz, DA
Lanphear, BP
Braun, JM
AF Prasodjo, Adila
Pfeiffer, Christine M.
Fazili, Zia
Xu, Yingying
Liddy, Stacey
Yolton, Kimberly
Savitz, David A.
Lanphear, Bruce P.
Braun, Joseph M.
TI Serum cotinine and whole blood folate concentrations in pregnancy
SO ANNALS OF EPIDEMIOLOGY
LA English
DT Article
DE Epidemiology; Folic acid; Pregnancy; Tobacco smoke pollution; Smoking
ID ENVIRONMENTAL TOBACCO-SMOKE; INFANT BIRTH-WEIGHT; PERICONCEPTIONAL
FOLIC-ACID; AUTISM SPECTRUM DISORDERS; TANDEM MASS-SPECTROMETRY;
DIETARY-SUPPLEMENT USE; UNITED-STATES; ELIMINATION KINETICS; TOTAL
HOMOCYSTEINE; MATERNAL SMOKING
AB Purpose: Prenatal tobacco smoke exposure may be associated with low maternal folate levels that increase the risk of adverse infant and child health outcomes by reducing folate availability during fetal development.
Methods: Using data from the Health Outcomes and Measures of the Environment Study, we examined the relationship between secondhand or active tobacco smoke exposure and whole blood folate concentrations in pregnant women from Cincinnati, Ohio (n = 362) at approximately 16-week gestation. We used multivariable linear regression to examine the association between continuous or categorical serum cotinine levels and whole blood folate levels, adjusting for sociodemographic, dietary, and perinatal variables.
Results: After adjustment for potential confounders, an interquartile range increases in serum cotinine concentration (0.012-0.224 ng/mL) was suggestively associated with decreased whole blood folate levels (beta, -23 nmol/L; 95% confidence interval (Cl), -49, 3; P value = .08). Compared with unexposed women, reductions in mean whole blood folate were observed among active smokers (beta, -94, 95% Cl, 195, 6 nmol/L; P value = .40); smaller reductions were observed among women with secondhand exposure (0, 26; Cl. 84, 32 nmol/L; P value = .07).
Conclusions: Consistent with prior studies, active smoking was associated with reduced whole blood folate levels among these pregnant women. Secondhand tobacco smoke exposures were associated with small and imprecise reductions in whole blood folate levels. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Prasodjo, Adila; Savitz, David A.; Braun, Joseph M.] Brown Univ, Sch Publ Hlth, Dept Epidemiol, Providence, RI 02912 USA.
[Pfeiffer, Christine M.; Fazili, Zia] Ctr Dis Control & Prevent, Div Sci Lab, Natl Ctr Environm Hlth, Nutr Biomarkers Branch, Atlanta, GA USA.
[Xu, Yingying; Liddy, Stacey; Yolton, Kimberly] Cincinnati Childrens Hosp Med Ctr, Dept Pediat, Cincinnati, OH 45229 USA.
[Lanphear, Bruce P.] Simon Fraser Univ, Fac Hlth & Sci, Burnaby, BC V5A 1S6, Canada.
[Lanphear, Bruce P.] BC Childrens & Womens Hosp, Child & Family Res Inst, Vancouver, BC, Canada.
RP Braun, JM (reprint author), Brown Univ, Sch Publ Hlth, Dept Epidemiol, Box G-S121-2, Providence, RI 02912 USA.
EM joseph_braun_1@brown.edu
FU National Institute of Environmental Health Sciences [R00 ES020346, PO1
ES11261, R01 ES020349]
FX This work was supported by National Institute of Environmental Health
Sciences grants R00 ES020346, PO1 ES11261, and R01 ES020349.
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NR 52
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 JUL
PY 2014
VL 24
IS 7
BP 498
EP 503
DI 10.1016/j.annepidem.2014.04.004
PG 6
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AJ7AW
UT WOS:000337850400002
PM 24854185
ER
PT J
AU Burnell, L
Verchere, C
Pugash, D
Loock, C
Robertson, S
Lehman, A
AF Burnell, Lindsay
Verchere, Cynthia
Pugash, Denise
Loock, Christine
Robertson, Sandra
Lehman, Anna
TI Additional post-natal diagnoses following antenatal diagnosis of
isolated cleft lip plus /- palate
SO ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION
LA English
DT Article
ID HARD PALATE; ULTRASOUND; ANOMALIES; ABNORMALITIES; FETUSES
AB Introduction Cleft lip with or without palate (CLP) can be diagnosed antenatally through ultrasound, and may be categorised as apparently isolated versus associated with other malformations. Limited data exist on the long-term outcomes following antenatal diagnosis of apparently isolated CLP.
Aim This study examined the long-term post-natal outcomes of CLP when found in isolation antenatally, in order to determine the rates of unexpected additional anomalies, developmental delay or genetic syndromes.
Patients and methods A retrospective chart review of antenatal and post-natal medical charts was completed for a ten-year period between January 2000 and December 2009. At least 2 years of available post-natal clinical information was required for inclusion in the study.
Results A total of 97 cases of antenatally isolated CLP were ascertained. Fifteen pregnancies were terminated. Follow-up data were available for 81 liveborns, though 4 were lost to follow-up prior to 2 years of age. Twelve of the 77 children meeting study criteria were identified to have other major malformations and/or developmental disability either later in the pregnancy or post-natally. Findings included familial clefting syndromes, trisomy 21, autism spectrum disorders, brain malformations, fetal alcohol syndrome and Kabuki syndrome, among other findings. Another 11 children had additional anomalies of minor impact. Examples of findings include a perimembranous ventricular septal defect, mild unilateral optic nerve hypoplasia, mild pulmonary artery stenosis with a small atrial septal defect, and transient delays in fine and gross motor skills. No children with clefting of the lip only had major additional diagnoses.
Conclusions The frequency of an associated complex developmental disorder following an otherwise reassuring fetal ultrasound is around 15%. A few diagnoses could be suspected at the antenatal assessment based on family history or exposures. Our study is lacking comprehensive assessment on the yield of genomic microarray testing for this population.
C1 [Burnell, Lindsay; Lehman, Anna] Univ British Columbia, Dept Med Genet, Vancouver, BC V6H3N1, Canada.
[Burnell, Lindsay; Verchere, Cynthia; Loock, Christine; Robertson, Sandra; Lehman, Anna] British Columbia Childrens Hosp, Vancouver, BC V6H3N1, Canada.
[Verchere, Cynthia; Robertson, Sandra] Univ British Columbia, Dept Surg, Vancouver, BC V6H3N1, Canada.
[Pugash, Denise] Univ British Columbia, Dept Radiol, Vancouver, BC V6H3N1, Canada.
[Pugash, Denise] British Columbia Womens Hosp, Vancouver, BC, Canada.
[Loock, Christine] Univ British Columbia, Dept Pediat, Vancouver, BC V6H3N1, Canada.
RP Lehman, A (reprint author), Univ British Columbia, Dept Med Genet, C234 4500 Oak St, Vancouver, BC V6H3N1, Canada.
EM alehman@cw.bc.ca
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NR 12
TC 0
Z9 0
PU BMJ PUBLISHING GROUP
PI LONDON
PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
SN 1359-2998
EI 1468-2052
J9 ARCH DIS CHILD-FETAL
JI Arch. Dis. Child.-Fetal Neonatal Ed.
PD JUL
PY 2014
VL 99
IS 4
BP F286
EP F290
DI 10.1136/archdischild-2013-305390
PG 5
WC Pediatrics
SC Pediatrics
GA AJ7XU
UT WOS:000337915600009
PM 24625434
ER
PT J
AU Hezel, DM
McNally, RJ
AF Hezel, Dianne M.
McNally, Richard J.
TI Theory of Mind Impairments in Social Anxiety Disorder
SO BEHAVIOR THERAPY
LA English
DT Article
DE social anxiety disorder; theory of mind; social cognition; anxiety
disorders
ID COMORBIDITY SURVEY REPLICATION; NEGATIVE SELF-IMAGERY; DSM-IV DISORDERS;
COGNITIVE REMEDIATION; MEMORY BIAS; PHOBIA; SCHIZOPHRENIA; EMOTION;
AUTISM; SCALE
AB Social anxiety disorder (SAD) is a common psychiatric disorder characterized by a persistent, excessive fear and avoidance of social and performance situations. Research on cognitive biases indicates individuals with SAD may lack an accurate view of how they are perceived by others, especially in social situations when they allocate important attentional resources to monitoring their own actions as well as external threat. In the present study, we explored whether socially anxious individuals also have impairments in theory of mind (ToM), or the ability to comprehend others' mental states, including emotions, beliefs, and intentions. Forty socially anxious and 40 non-socially-anxious comparison participants completed two ToM tasks: the Reading the Mind in the Eyes and the Movie for the Assessment of Social Cognition. Participants with SAD performed worse on ToM tasks than did non-socially-anxious participants. Relative to comparison participants, those with SAD were more likely to attribute more intense emotions and greater meaning to what others were thinking and feeling. These group differences were not due to interpretation bias. The ToM impairments in people with SAD are in the opposite direction of those in people with autism spectrum conditions whose inferences about the mental states of other people are absent or very limited. This association between SAD and ToM may have important implications for our understanding of both the maintenance and treatment of social anxiety disorder.
C1 [Hezel, Dianne M.; McNally, Richard J.] Harvard Univ, Cambridge, MA 02138 USA.
RP Hezel, DM (reprint author), Harvard Univ, Dept Psychol, 33 Kirkland St, Cambridge, MA 02138 USA.
EM dhezel@fas.harvard.edu
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NR 65
TC 1
Z9 1
PU ASSOC ADV BEHAVIOR THERAPY
PI NEW YORK
PA 305 7TH AVE #16A, NEW YORK, NY 10001-6008 USA
SN 0005-7894
EI 1878-1888
J9 BEHAV THER
JI Behav. Therapy
PD JUL
PY 2014
VL 45
IS 4
BP 530
EP 540
PG 11
WC Psychology, Clinical
SC Psychology
GA AJ7EQ
UT WOS:000337860400007
PM 24912465
ER
PT J
AU Parma, V
Bulgheroni, M
Tirindelli, R
Castiello, U
AF Parma, Valentina
Bulgheroni, Maria
Tirindelli, Roberto
Castiello, Umberto
TI Facilitation of action planning in children with autism: The
contribution of the maternal body odor
SO BRAIN AND COGNITION
LA English
DT Article
DE Action planning; Autism; Automatic imitation; Maternal odor; Visuomotor
priming
ID HIGH-FUNCTIONING AUTISM; MIRROR NEURON SYSTEM; SPECTRUM-DISORDERS;
DEVELOPMENTAL DISORDERS; COGNITIVE NEUROSCIENCE; MOTOR FACILITATION;
SOCIAL-BEHAVIOR; YOUNG-ADULTS; IMITATION; MOVEMENT
AB Imitation is a key socio-cognitive skill impaired in individuals with Autism Spectrum Conditions (ASC). It is known that the familiarity with an actor facilitates the appearance of imitative abilities. Here, we explore whether a highly familiar and socially relevant stimulus presented in the olfactory modality is able to improve spontaneous imitation as early as at the level of action planning. A group of 20 children with ASC and 20 controls observed their own mother or the mother of another child performing a reach-to-grasp action towards an object, under the exposure to their maternal odor, the odor of the mother of another child or no odor. Subsequently, children acted upon the same object with no specific instruction to imitate. Child's movement initiation time (MIT) served as an indicator of motor planning facilitation induced by action observation. Results suggest that for children with ASC (but not controls) MIT was significantly lower when exposed to the maternal odor both when interacting with a familiar or an unfamiliar model. In the former case, the performance is comparable to controls. The familiar model in the absence of any olfactory cue is able to induce a facilitation effect, but the maximal facilitation on MIT is evident when maternal odor and familiar model are paired. We hypothesize that for children with ASC the maternal odor provides relevant social motivation for taking advantage of others' actions when planning movements in an imitative context. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Parma, Valentina; Castiello, Umberto] Univ Padua, Dept Gen Psychol, I-35131 Padua, Italy.
[Bulgheroni, Maria] Ab Acus Srl, I-20155 Milan, Italy.
[Tirindelli, Roberto] Univ Parma, Dept Neurosci, I-43100 Parma, Italy.
RP Parma, V (reprint author), Monell Chem Senses Ctr, Philadelphia, PA 19146 USA.
EM valentina.parma@unipd.it
FU UC from the Ministero dell'Istruzione, dell'Universita e della Ricerca,
Italy
FX This research was supported by a Grant to UC from the Ministero
dell'Istruzione, dell'Universita e della Ricerca, Italy. The funding
source did not have any involvement in the study design, in data
collection, analysis and interpretation, in the writing and
dissemination process. We are especially grateful to the children that
participated in this research and their parents as well as the
colleagues and the students who helped with data gathering. The authors
report no conflict of interest.
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NR 97
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 0278-2626
EI 1090-2147
J9 BRAIN COGNITION
JI Brain Cogn.
PD JUL
PY 2014
VL 88
BP 73
EP 82
DI 10.1016/j.bandc.2014.05.002
PG 10
WC Neurosciences; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AJ6CQ
UT WOS:000337777700010
PM 24861501
ER
PT J
AU Kadak, MT
Demirel, OF
Yavuz, M
Demir, T
AF Kadak, Muhammed Tayyib
Demirel, Omer Faruk
Yavuz, Mesut
Demir, Turkay
TI Recognition of emotional facial expressions and broad autism phenotype
in parents of children diagnosed with autistic spectrum disorder
SO COMPREHENSIVE PSYCHIATRY
LA English
DT Article
ID QUOTIENT AQ; FUNCTIONING AUTISM; FACES; INDIVIDUALS; RELATIVES;
PERSONALITY; INFORMATION; SIBLINGS; FAMILIES
AB Objective: Research findings debate about features of broad autism phenotype. In this study, we tested whether parents of children with autism have problems recognizing emotional facial expression and the contribution of such an impairment to the broad phenotype of autism.
Method: Seventy-two parents of children with autistic spectrum disorder and 38 parents of control group participated in the study. Broad autism features was measured with Autism Quotient (AQ). Recognition of Emotional Face Expression Test was assessed with the Emotion Recognition Test, consisting a set of photographs from Ekman & Friesen's.
Results: In a two-tailed analysis of variance of AQ, there was a significant difference for social skills (F(1, 106) = 6.095; p < .05). Analyses of variance revealed significant difference in the recognition of happy, surprised and neutral expressions (F(1, 106) = 4.068, p = .046; F(1, 106) = 4.068, p = .046; F(1, 106) = 6.064, p = .016).
Conclusion: According to our findings, social impairment could be considered a characteristic feature of BAP. ASD parents had difficulty recognizing neutral expressions, suggesting that ASD parents may have impaired recognition of ambiguous expressions as do autistic children. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Kadak, Muhammed Tayyib; Demir, Turkay] Istanbul Univ, Cerrahpasa Med Sch, Dept Child & Adolescent Psychiat, TR-34100 Istanbul, Turkey.
[Demirel, Omer Faruk] Siverek State Hosp, Dept Psychiat, Sanliurfa, Turkey.
[Yavuz, Mesut] Kanuni State Hosp, Dept Child & Adolescent Psychiat, Istanbul, Turkey.
RP Kadak, MT (reprint author), Istanbul Univ, Cerrahpasa Med Sch, Dept Child & Adolescent Psychiat, TR-34100 Istanbul, Turkey.
EM tayyibkadak@gmail.com
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NR 38
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 0010-440X
EI 1532-8384
J9 COMPR PSYCHIAT
JI Compr. Psychiat.
PD JUL
PY 2014
VL 55
IS 5
BP 1146
EP 1151
DI 10.1016/j.comppsych.2014.03.004
PG 6
WC Psychiatry
SC Psychiatry
GA AJ7AV
UT WOS:000337850300013
PM 24742718
ER
PT J
AU Slane, MM
Lusk, LG
Boomer, KB
Hare, AE
King, MK
Evans, DW
AF Slane, Mylissa M.
Lusk, Laina G.
Boomer, K. B.
Hare, Abby E.
King, Margaret K.
Evans, David W.
TI Social cognition, face processing, and oxytocin receptor single
nucleotide polymorphisms in typically developing children
SO DEVELOPMENTAL COGNITIVE NEUROSCIENCE
LA English
DT Article
DE Social cognition; Oxytocin; Autism spectrum disorder; Typically
developing children; Event-related potential-N170
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; GENE OXTR; SPECTRUM
DISORDERS; MIND; ASSOCIATION; ATTRIBUTION; BEHAVIOR; ADULTS;
SCHIZOPHRENIA
AB Recent research has provided evidence of a link between behavioral measures of social cognition (SC) and neural and genetic correlates. Differences in face processing and variations in the oxytocin receptor (OXTR) gene have been associated with SC deficits and autism spectrum disorder (ASD) traits. Much work has examined the qualitative differences between those with ASD and typically developing (TD) individuals, but very little has been done to quantify the natural variation in ASD-like traits in the typical population. The present study examines this variation in TD children using a multidimensional perspective involving behavior assessment, neural electroencephalogram (EEG) testing, and OXTR genotyping. Children completed a series of neurocognitive assessments, provided saliva samples for sequencing, and completed a face processing task while connected to an EEG. No clear pattern emerged for EEG covariates or genotypes for individual OXTR single nucleotide polymorphisms (SNPs). However, SNPs rs2254298 and rs53576 consistently interacted such that the AG/GG allele combination of these SNPs was associated with poorer performance on neurocognitive measures. These results suggest that neither SNP in isolation is risk-conferring, but rather that the combination of rs2254298(A/G) and rs53576(G/G) confers a deleterious effect on SC across several neurocognitive measures. (C) 2014 Published by Elsevier Ltd.
C1 [Slane, Mylissa M.; Lusk, Laina G.; Evans, David W.] Bucknell Univ, Dept Psychol, Program Neurosci, Lewisburg, PA 17837 USA.
[Boomer, K. B.] Bucknell Univ, Dept Math, Lewisburg, PA 17837 USA.
[Hare, Abby E.; King, Margaret K.] Geisinger Bucknell Autism & Dev Med Ctr, Lewisburg, PA 17837 USA.
RP Evans, DW (reprint author), Geisinger Bucknell Autism & Dev Med Ctr, 120 Hamm Dr,Suite 2, Lewisburg, PA 17837 USA.
EM dwevans@bucknell.edu
FU Bucknell University Graduate Summer Research Stipend
FX This work was supported by a Bucknell University Graduate Summer
Research Stipend.
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NR 64
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1878-9293
EI 1878-9307
J9 DEV COGN NEUROS-NETH
JI Dev. Cogn. Neurosci.
PD JUL
PY 2014
VL 9
BP 160
EP 171
DI 10.1016/j.dcn.2014.04.001
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AJ8XB
UT WOS:000337990300014
PM 24814480
ER
PT J
AU O'Reilly, K
Peterson, CC
Wellman, HM
AF O'Reilly, Karin
Peterson, Candida C.
Wellman, Henry M.
TI Sarcasm and Advanced Theory of Mind Understanding in Children and Adults
With Prelingual Deafness
SO DEVELOPMENTAL PSYCHOLOGY
LA English
DT Article
DE deafness; theory of mind; sarcasm understanding; second-order false
belief; life span social cognition
ID FALSE-BELIEF; COCHLEAR IMPLANTS; ASPERGER SYNDROME; DISCOURSE IRONY;
NORMAL-HEARING; SIGN-LANGUAGE; AUTISM; COMMUNICATION; CHILDHOOD;
ABILITIES
AB Two studies addressed key theoretical debates in theory of mind (ToM) development by comparing (a) deaf native signers (n = 18), (b) deaf late signers (n = 59), and (c) age-matched hearing persons (n = 74) in childhood (Study 1: n = 81) and adulthood (Study 2: n = 70) on tests of first- and second-order false belief and conversational sarcasm. Results showed ToM development to be a life span phenomenon for deaf and hearing people alike. Native and late signers were outperformed by hearing peers on advanced ToM in childhood (M = 9 years), but in adulthood (M = 40 years), native signers had caught up, whereas late signers had not. Findings highlight the extended importance of conversational interaction for ToM growth.
C1 [O'Reilly, Karin; Peterson, Candida C.] Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
[Wellman, Henry M.] Univ Michigan, Dept Psychol, Ann Arbor, MI 48109 USA.
RP O'Reilly, K (reprint author), Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
EM candi@psy.uq.edu.au
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NR 53
TC 3
Z9 3
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0012-1649
EI 1939-0599
J9 DEV PSYCHOL
JI Dev. Psychol.
PD JUL
PY 2014
VL 50
IS 7
BP 1862
EP 1877
DI 10.1037/a0036654
PG 16
WC Psychology, Developmental
SC Psychology
GA AJ8HC
UT WOS:000337942900003
PM 24798505
ER
PT J
AU Chen, YW
Bundy, A
Cordier, R
Einfeld, S
AF Chen, Yu-Wei
Bundy, Anita
Cordier, Reinie
Einfeld, Stewart
TI Feasibility and usability of experience sampling methodology for
capturing everyday experiences of individuals with autism spectrum
disorders
SO DISABILITY AND HEALTH JOURNAL
LA English
DT Article
DE Asperger's syndrome; Ecological momentary assessment; Client-centered
practice; Social experience
ID ECOLOGICAL MOMENTARY ASSESSMENT; HIGH-FUNCTIONING CHILDREN; ASPERGER
SYNDROME; DAILY-LIFE; TIME-USE; ADOLESCENTS; VALIDITY; ADULTS;
SCHIZOPHRENIA; INTERVENTIONS
AB Background: Understanding experiences from the perspective of adults with autism spectrum disorders (ASD), in the myriad of circumstances in which they find themselves every day, is crucial for developing client-centered interventions. However, capturing these experiences can be difficult.
Objective: To investigate the feasibility and usability of experience sampling method (ESM), an ecological momentary assessment, for studying individuals with ASD.
Methods: Four participants (2 males) with Asperger's syndrome or high functioning autism aged 16-32 years carried an iPod touch or iPhone with a pre-installed ESM survey exploring the situation and their perceived internal experiences. Participants were asked to respond to the survey 7 times daily, at random times generated by the device, for 7 days.
Results: A high signal response rate (mean = 71%) and a short average time required for survey completion (mean = 1 min 42 s) supported feasibility of the ESM for use in research with individuals with ASD. Participants reported that the questions were straightforward and that survey completion interfered very little with everyday activities, supporting acceptability of the method. Results of a split-week analysis revealed consistency of experiences; correlations among experiences that are linked logically provided evidence of the internal logic of data gathered using the ESM. Through graphic analysis, we illustrated the usability of ESM for capturing the influence of everyday contexts on internal experiences/perceptions.
Conclusions: The ESM holds promise for examining the impact of social context on the everyday experiences of individuals with ASD. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Chen, Yu-Wei; Bundy, Anita; Einfeld, Stewart] Univ Sydney, Fac Hlth Sci, Lidcombe, NSW 2141, Australia.
[Cordier, Reinie] Curtin Univ, Sch Occupat Therapy & Social Work, Perth, WA 6845, Australia.
[Einfeld, Stewart] Univ Sydney, Brain & Mind Res Inst, Sydney, NSW 2006, Australia.
RP Chen, YW (reprint author), Univ Sydney, Fac Hlth Sci, Lidcombe, NSW 2141, Australia.
EM yu-wei.chen@sydney.edu.au
FU Faculty of Health Sciences, University of Sydney
FX The study was completed by the first author as part of the requirements
for the completion of PhD under supervision of the other authors. The
authors would like to acknowledge the Faculty of Health Sciences,
University of Sydney for the Mary Frances Stephens Scholarship and
Postgraduate Research Support Scheme. The authors also wish to express
their gratitude to the people who participated in the research, Autism
Spectrum Australia (Aspect) and other autism related associations in
Australia for assistance in research advertisement and recruitment.
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NR 44
TC 1
Z9 1
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1936-6574
EI 1876-7583
J9 DISABIL HEALTH J
JI Disabil. Health J.
PD JUL
PY 2014
VL 7
IS 3
BP 361
EP 366
DI 10.1016/j.dhjo.2014.04.004
PG 6
WC Health Care Sciences & Services; Health Policy & Services; Public,
Environmental & Occupational Health; Rehabilitation
SC Health Care Sciences & Services; Public, Environmental & Occupational
Health; Rehabilitation
GA AJ8UR
UT WOS:000337983800015
PM 24947579
ER
PT J
AU Kubota, T
Miyake, K
Hariya, N
Mochizuki, K
AF Kubota, Takeo
Miyake, Kunio
Hariya, Natsuyo
Mochizuki, Kazuki
TI Epigenetics as a basis for diagnosis of neurodevelopmental disorders:
challenges and opportunities
SO EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
LA English
DT Review
DE diagnosis; DNA methylation; epigenetics; epigenetics; epigenome; histone
modification; neurodevelopmental disorder; treatment
ID DIFFERENTIAL DNA METHYLATION; X-CHROMOSOME INACTIVATION; CPG-BINDING
PROTEIN-2; GENOME-WIDE ANALYSIS; LONG-TERM-MEMORY; RETT-SYNDROME; MOUSE
MODEL; AUTISM SPECTRUM; IMAGING EPIGENETICS; PRENATAL EXPOSURE
AB Neurodevelopmental disorders, such as autism, are complex entities that can be caused by biological and social factors. In a subset of patients with congenital neurodevelopmental disorders, clear diagnosis can be achieved using DNA sequence-based analysis to identify changes in the DNA sequence (genetic variation). However, it has recently become clear that changes to the secondary modifications of DNA and histone structures (epigenetic variation) can also cause neurodevelopmental disorders via alteration of neural gene function. Moreover, it has recently been demonstrated that epigenetic modifications are more susceptible to alterations induced by environmental factors than are DNA sequences, and that some drugs commonly used reverse mental-stress induced alterations to histone modifications in neural genes. Therefore, application of diagnostic assays to detect epigenetic alterations will provide new insight into the characterization and treatment of neurodevelopmental disorders.
C1 [Kubota, Takeo; Miyake, Kunio; Hariya, Natsuyo] Univ Yamanashi, Fac Med, Dept Epigenet Med, Kofu, Yamanashi, Japan.
[Mochizuki, Kazuki] Univ Yamanashi, Fac Life & Environm Sci, Dept Local Produce & Food Sci, Kofu, Yamanashi, Japan.
RP Kubota, T (reprint author), Univ Yamanashi, Fac Med, Dept Epigenet Med, Kofu, Yamanashi, Japan.
EM takeot@yamanashi.ac.jp
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NR 120
TC 0
Z9 0
PU EXPERT REVIEWS
PI LONDON
PA UNITEC HOUSE, 3RD FL, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON N3 1QB,
ENGLAND
SN 1473-7159
EI 1744-8352
J9 EXPERT REV MOL DIAGN
JI Expert Rev. Mol. Diagn.
PD JUL
PY 2014
VL 14
IS 6
BP 685
EP 697
DI 10.1586/14737159.2014.925805
PG 13
WC Pathology
SC Pathology
GA AJ8AW
UT WOS:000337925600007
PM 24902600
ER
PT J
AU Ruthsatz, J
Ruthsatz, K
Stephens, KR
AF Ruthsatz, Joanne
Ruthsatz, Kyle
Stephens, Kimberly Ruthsatz
TI Putting practice into perspective: Child prodigies as evidence of innate
talent
SO INTELLIGENCE
LA English
DT Article
DE Child prodigy; Intelligence; Working memory; Autism
ID FAMILY-HISTORY; AUTISM; MEMORY; INTELLIGENCE; PERFORMANCE; ABILITIES;
PHENOTYPE; EXPERT
AB The debate over whether exceptional abilities are primarily the product of nature or nurture began centuries ago - and continues to this day. Recently, much of this debate took place within the context of considering the abilities of exceptional musicians. Several of such studies suggested that general intelligence and domain specific skills, both of which fall on the nature side of the spectrum, play a significant role in the development of musical abilities. In this paper, the author demonstrates that those studies which attempted to argue for a purely nurture-driven account of such musical talent, moreover, merely showed that practice has some role to play in the development of talent; they failed to rule out the possibility that factors such as general intelligence and domain specific skills also contribute to the development of exceptional performance abilities. If the evidence generated by studies of exceptional musicians provides a strong basis for believing that nature is the primary driver of exceptional talent, that evidence receives a powerful boost from recent studies of child prodigies. Child prodigies provide a particularly fascinating view on the nature versus nurture debate because of the extremely young age at which the prodigies demonstrate their remarkable abilities, thus, limiting the extent to which their abilities can be solely the result of extreme dedication to practice. Despite this fact, some have still argued that child prodigies' abilities are nurture-driven. Recent research, however, demonstrates that child prodigies' skills are highly dependent on a few features of their cognitive profiles, including elevated general IQs, exceptional working memories, and elevated attention to detail. Other innate characteristics of the child prodigies predict the domain in which the prodigies will excel. Music prodigies, for example, tend to score better with respect to their general IQs, visual spatial abilities, and working memories, than art prodigies. This new research on a group of exceptional - and exceptionally young - performers strongly supports nature as the primary driver of extreme talent. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Ruthsatz, Joanne; Ruthsatz, Kyle] Ohio State Univ, Mansfield, OH 44906 USA.
[Stephens, Kimberly Ruthsatz] Brown Univ, Providence, RI 02912 USA.
RP Ruthsatz, J (reprint author), Ohio State Univ, Mansfield, OH 44906 USA.
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NR 29
TC 3
Z9 3
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0160-2896
EI 1873-7935
J9 INTELLIGENCE
JI Intelligence
PD JUL-AUG
PY 2014
VL 45
SI SI
BP 60
EP 65
DI 10.1016/j.intell.2013.08.003
PG 6
WC Psychology, Multidisciplinary
SC Psychology
GA AJ6BD
UT WOS:000337773800007
ER
PT J
AU Hallerback, MU
Lugnegard, T
Gillberg, C
AF Hallerback, Maria Unenge
Lugnegard, Tove
Gillberg, Christopher
TI ADHD and Nicotine Use in Schizophrenia or Asperger Syndrome: A
Controlled Study
SO JOURNAL OF ATTENTION DISORDERS
LA English
DT Article
DE ADHD; adult ADHD; comorbidity; Wender-Reimherr Adult Attention Deficit
Disorder Scale
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; EXTENDED-RELEASE
METHYLPHENIDATE; AUTISM SPECTRUM DISORDERS; LOW-PREVALENCE; SUBSTANCE
USE; SYMPTOMS; ADULTS; CHILDREN; SMOKING; DEPENDENCE
AB Objective: To examine ADHD prevalence, rating scales, and relationship to nicotine use in adults with schizophrenia or Asperger syndrome. Method: Ninety-five individuals, 41 with schizophrenia and 54 with Asperger syndrome, were included. Self-rating of adult ADHD symptoms with the Wender-Reimherr Adult Attention Deficit Diagnostic Rating Scale (WRAADDS), parent rating of proband's ADHD childhood and adult life symptoms using the Swanson, Nolan, and Pelham Questionnaire (SNAP), and report of clinical ADHD diagnosis were included as ADHD measures. Nicotine use data were compared with data from a population sample. Results: In all, 10% of the schizophrenia group and 30% of the Asperger syndrome group had a clinical ADHD diagnosis. Nicotine dependency in the whole sample was closely linked to ADHD. Conclusion: The prevalence of comorbid ADHD was high in schizophrenia and Asperger syndrome. The WRAADDS self-rating scale for ADHD can be one useful tool for assessing comorbid ADHD in these patient groups.
C1 [Hallerback, Maria Unenge; Lugnegard, Tove; Gillberg, Christopher] Cent Hosp Karlstad, S-65185 Karlstad, Sweden.
[Hallerback, Maria Unenge; Lugnegard, Tove] Univ Gothenburg, Gothenburg, Sweden.
RP Hallerback, MU (reprint author), Cent Hosp Karlstad, Dept Child & Adolescent Psychiat, S-65185 Karlstad, Sweden.
EM maria.hallerback@liv.se
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NR 45
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1087-0547
EI 1557-1246
J9 J ATTEN DISORD
JI J. Atten. Disord.
PD JUL
PY 2014
VL 18
IS 5
BP 425
EP 433
DI 10.1177/1087054712439099
PG 9
WC Psychology, Developmental; Psychiatry
SC Psychology; Psychiatry
GA AJ5GD
UT WOS:000337709800004
PM 22498753
ER
PT J
AU Adamo, N
Di Martino, A
Esu, L
Petkova, E
Johnson, K
Kelly, S
Castellanos, FX
Zuddas, A
AF Adamo, Nicoletta
Di Martino, Adriana
Esu, Lidia
Petkova, Eva
Johnson, Katherine
Kelly, Simon
Castellanos, Francisco Xavier
Zuddas, Alessandro
TI Increased Response-Time Variability Across Different Cognitive Tasks in
Children With ADHD
SO JOURNAL OF ATTENTION DISORDERS
LA English
DT Article
DE ADHD; childhood psychiatric symptoms; cognitive control; neurobiology
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
DEFICIT-HYPERACTIVITY-DISORDER; INTRA-SUBJECT VARIABILITY;
INTRAINDIVIDUAL VARIABILITY; SUSTAINED ATTENTION; ITALIAN CHILDREN;
FLUCTUATIONS; PERFORMANCE; SUBTYPES; AUTISM
AB Objective: Increased response-time (RT) fluctuations below 0.2 Hz have been reported as characteristic of ADHD in some but not all studies, possibly due to methodological differences. Accordingly, We contrasted two tasks and two analytical approaches in the same sample of children with ADHD. Method: Fifty-two children with ADHD and 49 typically developing children completed an Eriksen Flanker Task and a fixed-sequence version of the sustained attention to response task. RT fluctuations with two different frequency analyses were examined. Results: Robust ADHD-related increases of slow RT fluctuations within all frequencies were found in both tasks. Tasks were significantly correlated in both groups for frequencies above 0.07 Hz. RT fluctuations across all frequencies were greatest in children with ADHD with abnormally elevated omissions. Conclusion: We observed significantly increased fluctuations of RT in children with ADHD across two different tasks and methods supporting the hypothesis that slow frequency RT fluctuations reflect neurophysiological processes underlying ADHD.
C1 [Adamo, Nicoletta; Di Martino, Adriana; Castellanos, Francisco Xavier] NYU, Ctr Child Study, Inst Pediat Neurosci, New York, NY 10016 USA.
[Esu, Lidia] Univ Cagliari, Cagliari, Italy.
[Zuddas, Alessandro] Univ Cagliari, Dept Neurosci, Cagliari, Italy.
[Petkova, Eva] NYU, Ctr Child Study, Div Biostat, New York, NY 10016 USA.
[Johnson, Katherine] Univ Melbourne, Melbourne, Vic 3010, Australia.
[Kelly, Simon] CUNY City Coll, Dept Biomed Engn, New York, NY USA.
[Petkova, Eva; Castellanos, Francisco Xavier] Nathan S Kline Inst Psychiat Res, Orangeburg, NY USA.
RP Di Martino, A (reprint author), NYU, Ctr Child Study, Inst Pediat Neurosci, 215 Lexington Ave,14th Floor, New York, NY 10016 USA.
EM Adriana.Dimartino@nyumc.org
RI Di Martino, Adriana/L-2497-2014
FU Leon Levy Foundation; NIMH [K23MH087770]
FX The author(s) disclosed receipt of the following financial support for
the research, authorship, and/or publication of this article: This work
was supported in part by The Leon Levy Foundation and NIMH (K23MH087770)
awarded to Adriana Di Martino.
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Zuo XN, 2010, NEUROIMAGE, V49, P1432, DOI 10.1016/j.neuroimage.2009.09.037
NR 50
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1087-0547
EI 1557-1246
J9 J ATTEN DISORD
JI J. Atten. Disord.
PD JUL
PY 2014
VL 18
IS 5
BP 434
EP 446
DI 10.1177/1087054712439419
PG 13
WC Psychology, Developmental; Psychiatry
SC Psychology; Psychiatry
GA AJ5GD
UT WOS:000337709800005
PM 22508759
ER
PT J
AU Schaaf, RC
Benevides, T
Mailloux, Z
Faller, P
Hunt, J
van Hooydonk, E
Freeman, R
Leiby, B
Sendecki, J
Kelly, D
AF Schaaf, Roseann C.
Benevides, Teal
Mailloux, Zoe
Faller, Patricia
Hunt, Joanne
van Hooydonk, Elke
Freeman, Regina
Leiby, Benjamin
Sendecki, Jocelyn
Kelly, Donna
TI An Intervention for Sensory Difficulties in Children with Autism: A
Randomized Trial
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Intervention; Sensory functions
ID OCCUPATIONAL-THERAPY; SPECTRUM DISORDERS; MODULATION DISORDER;
YOUNG-CHILDREN; INTEGRATION; FIDELITY; BEHAVIOR; OUTCOMES;
RESPONSIVENESS; ASSOCIATION
AB This study evaluated a manualized intervention for sensory difficulties for children with autism, ages 4-8 years, using a randomized trial design. Diagnosis of autism was confirmed using gold standard measures. Results show that the children in the treatment group (n = 17) who received 30 sessions of the occupational therapy intervention scored significantly higher (p = 0.003, d = 1.2) on Goal Attainment Scales (primary outcome), and also scored significantly better on measures of caregiver assistance in self-care (p = 0.008 d = 0.9) and socialization (p = 0.04, d = 0.7) than the Usual Care control group (n = 15). The study shows high rigor in its measurement of treatment fidelity and use of a manualized protocol, and provides support for the use of this intervention for children with autism. Findings are discussed in terms of their implications for practice and future research.
C1 [Schaaf, Roseann C.] Thomas Jefferson Univ, Fac Farber Inst Neurosci, Dept Occupat Therapy, Philadelphia, PA 19107 USA.
[Benevides, Teal] Jefferson Sch Hlth Profess, Dept Occupat Therapy, Philadelphia, PA 19107 USA.
[Mailloux, Zoe] Pediat Therapy Network, Torrance, CA USA.
[Faller, Patricia; van Hooydonk, Elke; Freeman, Regina] Childrens Specialized Hosp, Toms River, NJ 08755 USA.
[Hunt, Joanne] Childrens Specialized Hosp, Mountainside, NJ 07092 USA.
[Leiby, Benjamin; Sendecki, Jocelyn] Thomas Jefferson Univ, Div Biostat, Philadelphia, PA 19107 USA.
[Kelly, Donna] Childrens Specialized Hosp, New Brunswick, NJ USA.
RP Schaaf, RC (reprint author), Thomas Jefferson Univ, Fac Farber Inst Neurosci, Dept Occupat Therapy, 901 Walnut St,Suite 605, Philadelphia, PA 19107 USA.
EM Roseann.schaaf@jefferson.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
[Anonymous], 2012, PSYCHIAT NEWS
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Schaaf RC, 2012, AM J OCCUP THER, V66, P503, DOI 10.5014/ajot.2012.006114
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Smith Roley S., AM J OCCUPATIONAL TH
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Stahmer AC, 2011, BRAIN RES, V1380, P229, DOI 10.1016/j.brainres.2010.09.043
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Watling R, 2011, OCCUPATIONAL THERAPY
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Wong VCN, 2010, ALTERN MED REV, V15, P136
NR 69
TC 6
Z9 6
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 JUL
PY 2014
VL 44
IS 7
BP 1493
EP 1506
DI 10.1007/s10803-013-1983-8
PG 14
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800001
PM 24214165
ER
PT J
AU Pierce, NP
O'Reilly, MF
Sorrells, AM
Fragale, CL
White, PJ
Aguilar, JM
Cole, HA
AF Pierce, Nigel P.
O'Reilly, Mark F.
Sorrells, Audrey M.
Fragale, Christina L.
White, Pamela J.
Aguilar, Jeannie M.
Cole, Heather A.
TI Ethnicity Reporting Practices for Empirical Research in Three
Autism-Related Journals
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Ethnicity; Race; Demographics; Autism spectrum disorder; Reporting
practices
ID SPECTRUM DISORDERS; SPECIAL-EDUCATION; YOUNG-CHILDREN; LANGUAGE
LEARNERS; MOTHERS; HEALTH; ADOLESCENTS; DIAGNOSIS; SERVICES; STRESS
AB This review examines ethnicity reporting in three autism-related journals (Autism, Focus on Autism and Other Developmental Disabilities, and Journal of Autism and Developmental Disorders) over a 6-year period. A comprehensive multistep search of articles is used to identify ethnicity as a demographic variable in these three journals. Articles that identified research participants' ethnicity were further analyzed to determine the impact of ethnicity as a demographic variable on findings of each study. The results indicate that ethnicity has not been adequately reported in these three autism related journals even though previous recommendations have been made to improve inadequacies of descriptive information of research participants in autism research (Kistner and Robbins in J Autism Dev Disord 16:77-82, 1986). Implications for the field of autism spectrum disorders are discussed in addition to further recommendations for future research.
C1 [Pierce, Nigel P.] Univ N Carolina, Chapel Hill, NC USA.
[Pierce, Nigel P.; O'Reilly, Mark F.; Sorrells, Audrey M.; Fragale, Christina L.; White, Pamela J.; Aguilar, Jeannie M.; Cole, Heather A.] Univ Texas Austin, Austin, TX 78712 USA.
[Pierce, Nigel P.] Frank Porter Graham Child Dev Inst, Carrboro, NC 27510 USA.
RP Pierce, NP (reprint author), Frank Porter Graham Child Dev Inst, 517 S Greensboro St, Carrboro, NC 27510 USA.
EM nigel.pierce@utexas.edu
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NR 81
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 JUL
PY 2014
VL 44
IS 7
BP 1507
EP 1519
DI 10.1007/s10803-014-2041-x
PG 13
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800002
PM 24488183
ER
PT J
AU Schroeder, JH
Cappadocia, MC
Bebko, JM
Pepler, DJ
Weiss, JA
AF Schroeder, Jessica H.
Cappadocia, M. Catherine
Bebko, James M.
Pepler, Debra J.
Weiss, Jonathan A.
TI Shedding Light on a Pervasive Problem: A Review of Research on Bullying
Experiences Among Children with Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Review
DE Autism; Bullying; Victimization; Review; Social skills
ID SPECIAL-EDUCATION; LEARNING-DIFFICULTIES; PEER VICTIMIZATION; SUICIDAL
IDEATION; SCHOOL STUDENTS; US YOUTH; VICTIMS; ADOLESCENTS; CHILDHOOD;
HEALTH
AB Autism spectrum disorders (ASD) are characterized by difficulties with social interaction, verbal and nonverbal communication, and the development and maintenance of interpersonal relationships. As a result, individuals with ASD are at an increased risk of bullying victimization, compared to typically developing peers. This paper reviews the literature that has emerged over the past decade regarding prevalence of bullying involvement in the ASD population, as well as associated psychosocial factors. Directions for future research are suggested, including areas of research that are currently unexplored or underdeveloped. Methodological issues such as defining and measuring bullying, as well as informant validity and reliability, are considered. Implications for intervention are discussed.
C1 [Schroeder, Jessica H.; Bebko, James M.; Weiss, Jonathan A.] York Univ, Dept Psychol, Toronto, ON M3J 1P3, Canada.
[Cappadocia, M. Catherine; Pepler, Debra J.] York Univ, LaMarsh Ctr Child & Youth Res, Toronto, ON M3J 1P3, Canada.
RP Schroeder, JH (reprint author), York Univ, Dept Psychol, 4700 Keele St, Toronto, ON M3J 1P3, Canada.
EM jessica4@yorku.ca
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NR 86
TC 4
Z9 4
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 JUL
PY 2014
VL 44
IS 7
BP 1520
EP 1534
DI 10.1007/s10803-013-2011-8
PG 15
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800003
PM 24464616
ER
PT J
AU Butterworth, TW
Hodge, MAR
Sofronoff, K
Beaumont, R
Gray, KM
Roberts, J
Horstead, SK
Clarke, KS
Howlin, P
Taffe, JR
Einfeld, SL
AF Butterworth, Thomas W.
Hodge, M. Antoinette Redoblado
Sofronoff, Kate
Beaumont, Renae
Gray, Kylie M.
Roberts, Jacqueline
Horstead, Sian K.
Clarke, Kristina S.
Howlin, Patricia
Taffe, John R.
Einfeld, Stewart L.
TI Validation of the Emotion Regulation and Social Skills Questionnaire for
Young People with Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE ERSSQ; Social skills; Autism Spectrum Disorders; ASD; Validation
ID PERVASIVE DEVELOPMENTAL DISORDERS; RANDOMIZED CONTROLLED-TRIAL;
ASPERGER-SYNDROME; RESPONSIVENESS SCALE; DIAGNOSTIC INTERVIEW; CHILDREN;
INTERVENTION; ADOLESCENTS; MANAGEMENT; BEHAVIOR
AB The current study aims to evaluate the psychometric properties of the Emotion Regulation and Social Skills Questionnaire (ERSSQ), a rating scale designed specifically to assess the social skills of young people with Autism Spectrum Disorder (ASD). The participants were 84 children and young adolescents with ASD, aged between 7.97 and 14.16 years with a mean IQ score of 90.21 (SD = 18.82). The results provide evidence for the concurrent and criterion validity of the ERSSQ Parent form, and the concurrent validity of the ERSSQ Teacher form. The clinical and theoretical implications are discussed, including the necessity of ratings across multiple contexts and the potential use of the ERSSQ in identifying individuals most in need of intervention and for planning and assessing the outcomes of social skills interventions.
C1 [Butterworth, Thomas W.] Univ New S Wales, Sch Psychol, Sydney, NSW, Australia.
[Hodge, M. Antoinette Redoblado] Childrens Hosp Westmead, Child Dev Unit, Westmead, NSW, Australia.
[Sofronoff, Kate; Beaumont, Renae] Univ Queensland, Sch Psychol, Brisbane, Qld, Australia.
[Gray, Kylie M.; Taffe, John R.] Monash Univ, Southern Clin Sch, Dept Psychiat, Ctr Dev Psychiat & Psychol, Clayton, Vic, Australia.
[Roberts, Jacqueline] Griffith Univ, Sch Educ & Profess Studies, Autism Ctr Excellence, Mt Gravatt, Qld 4122, Australia.
[Horstead, Sian K.; Clarke, Kristina S.; Howlin, Patricia; Einfeld, Stewart L.] Univ Sydney, Brain & Mind Res Inst, Camperdown, NSW 2050, Australia.
[Horstead, Sian K.; Clarke, Kristina S.; Howlin, Patricia; Einfeld, Stewart L.] Univ Sydney, Ctr Disabil Res & Policy, Lidcombe, NSW, Australia.
RP Einfeld, SL (reprint author), Univ Sydney, Brain & Mind Res Inst, 94 Mallett St, Camperdown, NSW 2050, Australia.
EM stewart.einfeld@sydney.edu.au
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(APA) APA, 2000, DIAGN STAT MAN MENT
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NR 30
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 JUL
PY 2014
VL 44
IS 7
BP 1535
EP 1545
DI 10.1007/s10803-013-2014-5
PG 11
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800004
PM 24337829
ER
PT J
AU Lyall, K
Ashwood, P
Van de Water, J
Hertz-Picciotto, I
AF Lyall, Kristen
Ashwood, Paul
Van de Water, Judy
Hertz-Picciotto, Irva
TI Maternal Immune-Mediated Conditions, Autism Spectrum Disorders, and
Developmental Delay
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autoimmune disease; Asthma; Allergy; Autism; Developmental delay;
Maternal risk factors
ID AUTOIMMUNE-DISEASES; CHILDREN; AUTOANTIBODIES; ANTIBODIES; PREGNANCY;
BEHAVIOR; FAMILY; RISK
AB The maternal immune system may play a role in offspring neurodevelopment. We examined whether maternal autoimmune disease, asthma, and allergy were associated with child autism spectrum disorder (ASD) and developmental delay without autism (DD) using 560 ASD cases, 391 typically developing controls, and 168 DD cases from the CHildhood Autism Risk from Genetics and the Environment (CHARGE) study. Results from conditional logistic regression demonstrated few significant associations overall. Maternal autoimmune disease was significantly associated with a modest increase in odds of developmental disorders (combined ASD + DD; OR = 1.46, 95 % CI 1.01, 2.09) but not of ASD alone. Associations with certain allergens and onset periods were also suggested. These findings suggest maternal autoimmune disease may modestly influence childhood developmental disorders (ASD + DD).
C1 [Lyall, Kristen; Hertz-Picciotto, Irva] Univ Calif Davis, Dept Publ Hlth Sci, Davis, CA 95616 USA.
[Ashwood, Paul; Van de Water, Judy; Hertz-Picciotto, Irva] Univ Calif Davis, MIND Inst, Sacramento, CA 95817 USA.
RP Lyall, K (reprint author), Univ Calif Davis, Dept Publ Hlth Sci, Med Sci 1C,One Shields Ave, Davis, CA 95616 USA.
EM kdodge@ucdavis.edu
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NR 34
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 JUL
PY 2014
VL 44
IS 7
BP 1546
EP 1555
DI 10.1007/s10803-013-2017-2
PG 10
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800005
PM 24337796
ER
PT J
AU Ronconi, L
Facoetti, A
Bulf, H
Franchin, L
Bettoni, R
Valenza, E
AF Ronconi, Luca
Facoetti, Andrea
Bulf, Hermann
Franchin, Laura
Bettoni, Roberta
Valenza, Eloisa
TI Paternal Autistic Traits are Predictive of Infants Visual Attention
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Broader autism phenotype; Spatial attention; Temporal attention;
Frontoparietal network; Right temporoparietal junction; Social brain
development
ID EVENT-RELATED POTENTIALS; SPECTRUM DISORDERS; GENERAL-POPULATION; HUMAN
BRAIN; CHILDREN; PERCEPTION; NETWORKS; MECHANISMS; PHENOTYPE; QUOTIENT
AB Since subthreshold autistic social impairments aggregate in family members, and since attentional dysfunctions appear to be one of the earliest cognitive markers of children with autism, we investigated in the general population the relationship between infants' attentional functioning and the autistic traits measured in their parents. Orienting and alerting attention systems were measured in 8-month-old infants using a spatial cueing paradigm. Results showed that only paternal autistic traits were linked to their children's: (1) attentional disengagement; (2) rapid attentional orienting and (3) alerting. Our findings suggest that an early dysfunction of orienting and alerting systems might alter the developmental trajectory of future ability in social cognition and communication.
C1 [Ronconi, Luca; Facoetti, Andrea; Bettoni, Roberta] Univ Padua, Dept Gen Psychol, Dev & Cognit Neurosci Lab, I-35131 Padua, Italy.
[Facoetti, Andrea] Sci Inst E Medea, Dev Neuropsychol Unit, Bosisio Parini, Italy.
[Bulf, Hermann] Univ Milano Bicocca, Dept Psychol, Milan, Italy.
[Franchin, Laura; Valenza, Eloisa] Univ Padua, Dept Dev & Socializat Psychol, Infant Cognit Lab, I-35131 Padua, Italy.
[Valenza, Eloisa] Univ Padua, Interdept Ctr Cognit Sci CISC, I-35131 Padua, Italy.
[Valenza, Eloisa] Univ Padua, Dipartimento Psicol Sviluppo & Socializzaz, I-35131 Padua, Italy.
RP Valenza, E (reprint author), Univ Padua, Dipartimento Psicol Sviluppo & Socializzaz, Via Venezia 8, I-35131 Padua, Italy.
EM eloisa.valenza@unipd.it
RI Facoetti, Andrea/C-2876-2009
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NR 72
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 JUL
PY 2014
VL 44
IS 7
BP 1556
EP 1564
DI 10.1007/s10803-013-2018-1
PG 9
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800006
PM 24356849
ER
PT J
AU Sun, X
Allison, C
Auyeung, B
Matthews, FE
Norton, S
Baron-Cohen, S
Brayne, C
AF Sun, Xiang
Allison, Carrie
Auyeung, Bonnie
Matthews, Fiona E.
Norton, Samuel
Baron-Cohen, Simon
Brayne, Carol
TI Psychometric Properties of the Mandarin Version of the Childhood Autism
Spectrum Test (CAST): An Exploratory Study
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum conditions; Categorical data factor analysis; Item
response theory; CAST; China
ID CONFIRMATORY FACTOR-ANALYSIS; ADULT ASPERGER ASSESSMENT; ITEM RESPONSE
THEORY; SCREENING QUESTIONNAIRE; GENERAL-POPULATION; RATING-SCALE;
TRAITS; CHILDREN; ASSOCIATION; VALIDITY
AB Limited studies have investigated the latent autistic traits in the mainland Chinese population for autism spectrum conditions (ASC). This study explored the psychometric properties of a Mandarin Chinese version of the CAST in a sample consisting of 737 children in mainstream schools and 50 autistic cases. A combination of categorical data factor analysis and item response theory suggested a good-fit model of a two-factor solution for 28 items on the Mandarin CAST including social and communication, and inflexible/stereotyped language and behaviours (Goodness-of-fit indices: RMSEA = 0.029, CFI = 0.957, TLI = 0.950, SRMR = 0.064). The correlation between the two factors was moderate (GFC = 0.425). This study provided evidence for the CAST as a multidimensional measure for ASC screening in a Chinese population and also showed that the symptom manifestation of ASC in Chinese children shares similarity with western populations.
C1 [Sun, Xiang; Brayne, Carol] Univ Cambridge, Inst Publ Hlth, Dept Publ Hlth & Primary Care, Cambridge CB2 0SR, England.
[Sun, Xiang; Allison, Carrie; Auyeung, Bonnie; Baron-Cohen, Simon] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge CB2 2AH, 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.] Cambridge Inst Publ Hlth, Biostat Unit, MRC, Cambridge CB2 0SR, England.
[Norton, Samuel] Kings Coll London, Inst Psychiat, Dept Psychol, London SE1 9RT, England.
RP Sun, X (reprint author), Univ Cambridge, Inst Publ Hlth, Dept Publ Hlth & Primary Care, Forvie Site,Robinson Way, Cambridge CB2 0SR, England.
EM xs227@medschl.cam.ac.uk
CR Allison C, 2008, J AUTISM DEV DISORD, V38, P1414, DOI 10.1007/s10803-007-0509-7
Allison C., 2009, QUANTITATIVE CHECKLI
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NR 64
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 JUL
PY 2014
VL 44
IS 7
BP 1565
EP 1576
DI 10.1007/s10803-013-2024-3
PG 12
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800007
PM 24522967
ER
PT J
AU Chiang, HM
Tsai, LY
Cheung, YK
Brown, A
Li, HC
AF Chiang, Hsu-Min
Tsai, Luke Y.
Cheung, Ying Kuen
Brown, Alice
Li, Huacheng
TI A Meta-Analysis of Differences in IQ Profiles Between Individuals with
Asperger's Disorder and High-Functioning Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Asperger syndrome; Asperger's disorder; High-functioning autism; IQ;
Cognitive profile; DSM; Meta-analysis; Autistic disorder
ID PERVASIVE DEVELOPMENTAL DISORDERS; COGNITIVE PROFILES; SPECTRUM
DISORDERS; SOCIAL ATTRIBUTION; WAIS-III; CHILDREN; ADULTS; MOTOR;
DISABILITIES; ADOLESCENTS
AB A meta-analysis was performed to examine differences in IQ profiles between individuals with Asperger's disorder (AspD) and high-functioning autism (HFA). Fifty-two studies were included for this study. The results showed that (a) individuals with AspD had significantly higher full-scale IQ, verbal IQ (VIQ), and performance IQ (PIQ) than did individuals with HFA; (b) individuals with AspD had significantly higher VIQ than PIQ; and (c) VIQ was similar to PIQ in individuals with HFA. These findings seem to suggest that AspD and HFA are two different subtypes of Autism. The implications of the present findings to DSM-5 Autism Spectrum Disorder are discussed.
C1 [Chiang, Hsu-Min; Brown, Alice] Columbia Univ, Dept Hlth & Behav Studies, Teachers Coll, New York, NY 10027 USA.
[Chiang, Hsu-Min] Columbia Univ, Intellectual Disabil Autism Program, Teachers Coll, New York, NY 10027 USA.
[Tsai, Luke Y.] Univ Michigan, Sch Med, Ann Arbor, MI USA.
[Cheung, Ying Kuen] Columbia Univ, Dept Biostat, Sch Publ Hlth, New York, NY 10027 USA.
[Li, Huacheng] Columbia Univ, Dept Human Dev, Teachers Coll, Measurement Evaluat & Stat Program, New York, NY 10027 USA.
RP Chiang, HM (reprint author), Columbia Univ, Intellectual Disabil Autism Program, Teachers Coll, 525 West 120th St,Box 223, New York, NY 10027 USA.
EM hchiang@tc.columbia.edu
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NR 70
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 JUL
PY 2014
VL 44
IS 7
BP 1577
EP 1596
DI 10.1007/s10803-013-2025-2
PG 20
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800008
PM 24362849
ER
PT J
AU Jimenez, L
Lorda, MJ
Mendez, C
AF Jimenez, Luis
Jose Lorda, Maria
Mendez, Castor
TI Emulation and Mimicry in School Students with Typical Development and
with High Functioning Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Imitation; Mimicry; Emulation; Automatic imitation; Overimitation
ID SPECTRUM DISORDER; IMITATION; CHILDREN; COMPATIBILITY; HYPOTHESIS;
RESPONSES; QUOTIENT; VERSION; MOTOR; TASK
AB Two samples of participants with typical development (TD) and high functioning autism performed an imitation task where the goal was of high or low salience, and where the modeled action complied with or was contrary to the end-state comfort (ESC) effect. Imitation was affected by the ESC effect in both groups, and participants with autism reproduced high salient goals as frequently as did participants with TD, but they reproduced less of the low salient goals. Participants with autism showed a reduced tendency to reproduce those actions which were relatively inefficient to reach the goals. The results are discussed in terms of either a relative imbalance between emulation and mimicry in autism, or a reduced tendency to overimitate.
C1 [Jimenez, Luis; Jose Lorda, Maria; Mendez, Castor] Univ Santiago de Compostela, Fac Psicol, Santiago De Compostela 15782, Spain.
[Jose Lorda, Maria] Adapta Consultores, Santiago De Compostela 15705, Spain.
RP Jimenez, L (reprint author), Univ Santiago de Compostela, Fac Psicol, Santiago De Compostela 15782, Spain.
EM luis.jimenez@usc.es; marialordasanchez@gmail.com; castor.mendez@usc.es
RI Jimenez, Luis/C-6050-2011
OI Jimenez, Luis/0000-0002-0763-4220
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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 JUL
PY 2014
VL 44
IS 7
BP 1597
EP 1608
DI 10.1007/s10803-013-2027-0
PG 12
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800009
PM 24362850
ER
PT J
AU Rivard, M
Terroux, A
Parent-Boursier, C
Mercier, C
AF Rivard, Melina
Terroux, Amelie
Parent-Boursier, Claudel
Mercier, Celine
TI Determinants of Stress in Parents of Children with Autism Spectrum
Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Preschoolers; Parental stress; Early intervention
ID PERVASIVE DEVELOPMENTAL DISORDERS; BEHAVIOR PROBLEMS;
INTELLECTUAL-DISABILITY; FAMILY STRESS; MENTAL-HEALTH; DOWN-SYNDROME;
CHILDHOOD AUTISM; SYMPTOM SEVERITY; MATERNAL STRESS; FATHERS
AB Parents of children with autism spectrum disorder are known to experience more stress than parents of children with any other conditions. The current study describes the parental stress of 118 fathers and 118 mothers at the onset of their children's Early Intensive Behavioral Intervention program. The objectives of the study were to compare and analyze each parent's stress and to identify factors that might predict their stress. Results indicated that fathers reported higher levels of stress than mothers. Correlations indicated that the stress levels of both parents were associated with their child's age, intellectual quotient, severity of autistic symptoms, and adaptive behaviors. Paternal stress, but not maternal stress, was predicted by severity of autistic symptoms and child's gender. Results are discussed in terms of their implications for services and early interventions.
C1 [Rivard, Melina; Parent-Boursier, Claudel] Univ Quebec, Dept Psychol, Montreal, PQ H3C 3P8, Canada.
[Terroux, Amelie] Ctr Readaptat Deficience Intellectuelle & Trouble, Quebec City, PQ, Canada.
[Mercier, Celine] Univ Montreal, Dept Med Sociale & Prevent, Montreal, PQ, Canada.
RP Rivard, M (reprint author), Univ Quebec, Dept Psychol, CP 8888 Succursale Ctr Ville, Montreal, PQ H3C 3P8, Canada.
EM rivard.melina@uqam.ca
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NR 58
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 JUL
PY 2014
VL 44
IS 7
BP 1609
EP 1620
DI 10.1007/s10803-013-2028-z
PG 12
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800010
PM 24384673
ER
PT J
AU Windham, GC
Smith, KS
Rosen, N
Anderson, MC
Grether, JK
Coolman, RB
Harris, S
AF Windham, Gayle C.
Smith, Karen S.
Rosen, Nila
Anderson, Meredith C.
Grether, Judith K.
Coolman, Richard B.
Harris, Stephen
TI Autism and Developmental Screening in a Public, Primary Care Setting
Primarily Serving Hispanics: Challenges and Results
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Developmental screening; M-CHAT; ASQ;
Hispanics; Children's health
ID SPECTRUM DISORDERS; MODIFIED CHECKLIST; YOUNG-CHILDREN; TODDLERS;
QUESTIONNAIRES; PREVALENCE; COMMUNITY; RISK
AB We implemented screening of children 16-30 months of age (n = 1,760) from a typically under-served, primarily Hispanic, population, at routine pediatric appointments using the modified checklist for autism in toddlers (M-CHAT) and Ages and Stages Questionnaire. Screen positive rates of 26 and 39 %, respectively, were higher than previous reports. Hispanics were more likely to score M-CHAT positive than non-Hispanics (adjusted OR 1.7, 95 % CI 1.2-2.4), as were those screened in Spanish. About 30 % of screen-positive children were referred for further assessment, but only half were seen. Thus screening in this population is feasible, but may require additional resources. Attention to the cultural applicability of screening instruments, as well as to explaining the results or need for additional services to parents, is critical to serve the growing Hispanic population.
C1 [Windham, Gayle C.; Grether, Judith K.] Calif Dept Publ Hlth, Div Environm & Occupat Dis Control, Richmond, CA 94804 USA.
[Smith, Karen S.; Rosen, Nila; Anderson, Meredith C.] Impact Assessment Inc, La Jolla, CA USA.
[Coolman, Richard B.; Harris, Stephen] Santa Clara Cty Hlth & Hosp Syst, San Jose, CA USA.
[Rosen, Nila] Univ Calif, Berkeley, CA USA.
RP Windham, GC (reprint author), Calif Dept Publ Hlth, Div Environm & Occupat Dis Control, 850 Marina Bay Pkwy,Bldg P, Richmond, CA 94804 USA.
EM gayle.windham@cdph.ca.gov
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NR 43
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 JUL
PY 2014
VL 44
IS 7
BP 1621
EP 1632
DI 10.1007/s10803-014-2032-y
PG 12
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800011
PM 24408091
ER
PT J
AU Xiao, Z
Qiu, T
Ke, XY
Xiao, X
Xiao, T
Liang, FJ
Zou, B
Huang, HQ
Fang, H
Chu, KK
Zhang, JP
Liu, YJ
AF Xiao, Zhou
Qiu, Ting
Ke, Xiaoyan
Xiao, Xiang
Xiao, Ting
Liang, Fengjing
Zou, Bing
Huang, Haiqing
Fang, Hui
Chu, Kangkang
Zhang, Jiuping
Liu, Yijun
TI Autism Spectrum Disorder as Early Neurodevelopmental Disorder: Evidence
from the Brain Imaging Abnormalities in 2-3 Years Old Toddlers
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Toddler; Magnetic resonance imaging; Voxel
based morphometry; Diffusion tensor imaging
ID CORPUS-CALLOSUM MICROSTRUCTURE; EMPATHY QUOTIENT EQ; WHITE-MATTER;
SEX-DIFFERENCES; REPETITIVE BEHAVIOR; FETAL TESTOSTERONE; HEAD
CIRCUMFERENCE; YOUNG-CHILDREN; GRAY-MATTER; GENDER
AB Autism spectrum disorder (ASD) is a complex neurodevelopmental condition that occurs within the first 3 years of life, which is marked by social skills and communication deficits along with stereotyped repetitive behavior. Although great efforts have been made to clarify the underlying neuroanatomical abnormalities and brain-behavior relationships in adolescents and adults with ASD, literature is still limited in information about the neurobiology of ASD in the early age of life. Brain images of 50 toddlers with ASD and 28 age, gender, and developmental quotient matched toddlers with developmental delay (DD) (control group) between ages 2 and 3 years were captured using combined magnetic resonance-based structural imaging and diffusion tensor imaging (DTI). Structural magnetic resonance imaging was applied to assess overall gray matter (GM) and white matter (WM) volumes, and regional alterations were assessed by voxel-based morphometry. DTI was used to investigate the white matter tract integrity. Compared with DD, significant increases were observed in ASD, primarily in global GM and WM volumes and in right superior temporal gyrus regional GM and WM volumes. Higher fractional anisotropy value was also observed in the corpus callosum, posterior cingulate cortex, and limbic lobes of ASD. The converging findings of structural and white matter abnormalities in ASD suggest that alterations in neural-anatomy of different brain regions may be involved in behavioral and cognitive deficits associated with ASD, especially in an early age of 2-3 years old toddlers.
C1 [Xiao, Zhou; Qiu, Ting; Ke, Xiaoyan; Xiao, Xiang; Xiao, Ting; Liang, Fengjing; Zou, Bing; Fang, Hui; Chu, Kangkang; Zhang, Jiuping] Nanjing Med Univ, Nanjing Brain Hosp, Child Mental Hlth Res Ctr, Nanjing 210029, Jiangsu, Peoples R China.
[Huang, Haiqing; Liu, Yijun] Univ Florida, McKnight Brain Inst, Dept Psychiat, Gainesville, FL 32601 USA.
RP Ke, XY (reprint author), Nanjing Med Univ, Nanjing Brain Hosp, Child Mental Hlth Res Ctr, Nanjing GuangZhou Rd 264, Nanjing 210029, Jiangsu, Peoples R China.
EM kexynj@hotmail.com
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NR 51
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 JUL
PY 2014
VL 44
IS 7
BP 1633
EP 1640
DI 10.1007/s10803-014-2033-x
PG 8
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800012
PM 24419870
ER
PT J
AU Bekele, E
Crittendon, J
Zheng, Z
Swanson, A
Weitlauf, A
Warren, Z
Sarkar, N
AF Bekele, Esubalew
Crittendon, Julie
Zheng, Zhi
Swanson, Amy
Weitlauf, Amy
Warren, Zachary
Sarkar, Nilanjan
TI Assessing the Utility of a Virtual Environment for Enhancing Facial
Affect Recognition in Adolescents with Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Virtual reality; Facial expressions; Adaptive
systems
ID SPECTRUM DISORDERS; REALITY ENVIRONMENTS; EMOTION RECOGNITION;
SOCIAL-INTERACTION; YOUNG-CHILDREN; EXPRESSIONS; DESIGN; FACES;
INTERVENTION; TECHNOLOGIES
AB Teenagers with autism spectrum disorder (ASD) and age-matched controls participated in a dynamic facial affect recognition task within a virtual reality (VR) environment. Participants identified the emotion of a facial expression displayed at varied levels of intensity by a computer generated avatar. The system assessed performance (i.e., accuracy, confidence ratings, response latency, and stimulus discrimination) as well as how participants used their gaze to process facial information using an eye tracker. Participants in both groups were similarly accurate at basic facial affect recognition at varied levels of intensity. Despite similar performance characteristics, ASD participants endorsed lower confidence in their responses and substantial variation in gaze patterns in absence of perceptual discrimination deficits. These results add support to the hypothesis that deficits in emotion and face recognition for individuals with ASD are related to fundamental differences in information processing. We discuss implications of this finding in a VR environment with regards to potential future applications and paradigms targeting not just enhanced performance, but enhanced social information processing within intelligent systems capable of adaptation to individual processing differences.
C1 [Bekele, Esubalew; Zheng, Zhi; Sarkar, Nilanjan] Vanderbilt Univ, Dept Elect Engn & Comp Sci, Nashville, TN 37212 USA.
[Crittendon, Julie; Weitlauf, Amy; Warren, Zachary] Vanderbilt Univ, Dept Pediat & Psychiat, Nashville, TN 37212 USA.
[Crittendon, Julie; Swanson, Amy; Weitlauf, Amy; Warren, Zachary] Vanderbilt Univ, Treatment & Res Inst Autism Spectrum Disorders, Vanderbilt Kennedy Ctr, Nashville, TN 37212 USA.
[Warren, Zachary] Vanderbilt Univ, Dept Special Educ, Nashville, TN 37212 USA.
[Sarkar, Nilanjan] Vanderbilt Univ, Dept Mech Engn, Nashville, TN 37212 USA.
RP Bekele, E (reprint author), Vanderbilt Univ, Dept Elect Engn & Comp Sci, 518 Olin Hall 2400 Highland Ave, Nashville, TN 37212 USA.
EM esubalew.bekele@vanderbilt.edu
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NR 42
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 JUL
PY 2014
VL 44
IS 7
BP 1641
EP 1650
DI 10.1007/s10803-014-2035-8
PG 10
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800013
PM 24419871
ER
PT J
AU Bockler, A
Timmermans, B
Sebanz, N
Vogeley, K
Schilbach, L
AF Bockler, Anne
Timmermans, Bert
Sebanz, Natalie
Vogeley, Kai
Schilbach, Leonhard
TI Effects of Observing Eye Contact on Gaze Following in High-Functioning
Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Gaze following; Joint attention; Social cognition; High-functioning
autism
ID JOINT ATTENTION; CHILDREN; CONSCIOUSNESS; COMPETENCE; PERCEPTION;
INFANTS; FACE; MIND
AB Observing eye contact between others enhances the tendency to subsequently follow their gaze and has been suggested to function as a social signal that adds meaning to an upcoming action or event. The present study investigated effects of observed eye contact in high-functioning autism (HFA). Two faces on a screen either looked at or away from each other before providing congruent or incongruent gaze cues to one of two target locations. In contrast to control participants, HFA participants did not depict enhanced gaze following after observing eye contact. Individuals with autism, hence, do not seem to process observed mutual gaze as a social signal indicating the relevance of upcoming (gaze) behaviour. This may be based on the reduced tendency of individuals with HFA to engage in social gaze behavior themselves, and might underlie some of the characteristic deficiencies in social communicative behaviour in autism.
C1 [Bockler, Anne; Sebanz, Natalie] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands.
[Timmermans, Bert; Vogeley, Kai; Schilbach, Leonhard] Univ Hosp Cologne, Cologne, Germany.
[Sebanz, Natalie] Cent European Univ, Dept Cognit Sci, Budapest, Hungary.
[Vogeley, Kai] Res Ctr Juelich, Inst Neurosci & Med Cognit Neurosci INM3, Julich, Germany.
RP Bockler, A (reprint author), Max Planck Inst Human Cognit & Brain Sci, Dept Social Neurosci, Stephanstr 1, D-04103 Leipzig, Germany.
EM aboeckler@cbs.mpg.de
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NR 58
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 JUL
PY 2014
VL 44
IS 7
BP 1651
EP 1658
DI 10.1007/s10803-014-2038-5
PG 8
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800014
PM 24442835
ER
PT J
AU Nijmeijer, JS
Arias-Vasquez, A
Rommelse, NNJ
Altink, ME
Buschgens, CJM
Fliers, EA
Franke, B
Minderaa, RB
Sergeant, JA
Buitelaar, JK
Hoekstra, PJ
Hartman, CA
AF Nijmeijer, Judith S.
Arias-Vasquez, Alejandro
Rommelse, Nanda N. J.
Altink, Marieke E.
Buschgens, Cathelijne J. M.
Fliers, Ellen A.
Franke, Barbara
Minderaa, Ruud B.
Sergeant, Joseph A.
Buitelaar, Jan K.
Hoekstra, Pieter J.
Hartman, Catharina A.
TI Quantitative Linkage for Autism Spectrum Disorders Symptoms in
Attention-Deficit/Hyperactivity Disorder: Significant Locus on
Chromosome 7q11
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE ASD; ADHD; Comorbidity; Genetics
ID DEFICIT HYPERACTIVITY DISORDER; WILLIAMS-BEUREN-SYNDROME;
GENERAL-POPULATION; GENETIC INFLUENCES; SOCIAL-BEHAVIOR; TWIN SAMPLE;
SIB PAIRS; GENOME; TRAITS; SCAN
AB We studied 261 ADHD probands and 354 of their siblings to assess quantitative trait loci associated with autism spectrum disorder symptoms (as measured by the Children's Social Behavior Questionnaire (CSBQ)) using a genome-wide linkage approach, followed by locus-wide association analysis. A genome-wide significant locus for the CSBQ subscale addressing social interaction was found on chromosome 7q11, with suggestive signals supporting this locus on three other CSBQ subscales. We identified two other suggestive loci for the CSBQ total scale and individual subscales on chromosomes 4q35 and 7p12. Fine-mapping the significantly linked locus resulted in interesting candidate genes, although their association was not significant after permutation testing.
C1 [Minderaa, Ruud B.; Hoekstra, Pieter J.; Hartman, Catharina A.] Univ Groningen, Univ Med Ctr Groningen, Dept Psychiat, NL-9700 AR Groningen, Netherlands.
[Nijmeijer, Judith S.] Univ Groningen, Univ Med Ctr Groningen, Dept Child & Adolescent Psychiat, NL-9700 AR Groningen, Netherlands.
[Arias-Vasquez, Alejandro; Altink, Marieke E.; Fliers, Ellen A.; Franke, Barbara] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Psychiat, NL-6525 ED Nijmegen, Netherlands.
[Arias-Vasquez, Alejandro; Buschgens, Cathelijne J. M.; Fliers, Ellen A.; Franke, Barbara; Buitelaar, Jan K.] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.
[Rommelse, Nanda N. J.; Buschgens, Cathelijne J. M.; Buitelaar, Jan K.] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Cognit Neurosci, NL-6525 ED Nijmegen, Netherlands.
[Rommelse, Nanda N. J.; Altink, Marieke E.; Buitelaar, Jan K.] Karakter Child & Adolescent Psychiat Univ Med Ctr, Nijmegen, Netherlands.
[Rommelse, Nanda N. J.] Radboud Univ Nijmegen, Med Ctr, Dept Psychiat, NL-6525 ED Nijmegen, Netherlands.
[Fliers, Ellen A.] Parnassia BAVO Grp, Youth Dept, Rotterdam, Netherlands.
[Sergeant, Joseph A.] Vrije Univ Amsterdam, Dept Clin Neuropsychol, Amsterdam, Netherlands.
RP Nijmeijer, JS (reprint author), Univ Groningen, Dept Child & Adolescent Psychiat, Hanzepl 1,POB 660, NL-9700 AR Groningen, Netherlands.
EM j.nijmeijer@accare.nl
RI Hoekstra, Pieter/O-4396-2014; Franke, Barbara/D-4836-2009
OI Franke, Barbara/0000-0003-4375-6572
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NR 49
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 JUL
PY 2014
VL 44
IS 7
BP 1671
EP 1680
DI 10.1007/s10803-014-2039-4
PG 10
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800016
PM 24526336
ER
PT J
AU Suh, J
Eigsti, IM
Naigles, L
Barton, M
Kelley, E
Fein, D
AF Suh, Joyce
Eigsti, Inge-Marie
Naigles, Letitia
Barton, Marianne
Kelley, Elizabeth
Fein, Deborah
TI Narrative Performance of Optimal Outcome Children and Adolescents with a
History of an Autism Spectrum Disorder (ASD)
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Outcome; Optimal; Narrative; Language; Pragmatics; Dysfluency
ID HIGH-FUNCTIONING AUTISM; LANGUAGE DISORDERS; ASPERGER-SYNDROME;
BEHAVIORAL TREATMENT; INDIVIDUALS; IMPAIRMENTS; ADULTS; DISCOURSE;
ABILITY; AGE
AB Autism Spectrum Disorders (ASDs) have traditionally been considered a lifelong condition; however, a subset of people makes such significant improvements that they no longer meet diagnostic criteria for an ASD. The current study examines whether these "optimal outcome" (OO) children and adolescents continue to have subtle pragmatic language deficits. The narratives of 15 OO individuals, 15 high-functioning individuals with an ASD (HFA), and 15 typically developing (TD) peers were evaluated. Despite average cognitive functioning, the ASD group produced narratives with fewer central "gist" descriptions, more ambiguous pronominal referents, idiosyncratic language, speech dysfluency (more repetitions and self-corrections), and were less likely to name story characters. The OO participants displayed only very subtle pragmatic and higher-level language deficits (idiosyncratic language and self-correction dysfluency).
C1 [Suh, Joyce; Eigsti, Inge-Marie; Naigles, Letitia; Barton, Marianne; Fein, Deborah] Univ Connecticut, Dept Psychol, Storrs, CT 06269 USA.
[Kelley, Elizabeth] Queens Univ, Dept Psychol, Kingston, ON K7L 3N6, Canada.
[Fein, Deborah] Univ Connecticut, Dept Pediat, Farmington, CT USA.
RP Suh, J (reprint author), Univ Connecticut, Dept Psychol, 406 Babbidge Rd,Unit 1020, Storrs, CT 06269 USA.
EM joyce.suh@uconn.edu
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NR 64
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 JUL
PY 2014
VL 44
IS 7
BP 1681
EP 1694
DI 10.1007/s10803-014-2042-9
PG 14
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800017
PM 24500659
ER
PT J
AU Moss, AHB
Gordon, JE
O'Connell, A
AF Moss, Alicia H. B.
Gordon, Jocelynne E.
O'Connell, Annie
TI Impact of Sleepwise: An Intervention for Youth with Developmental
Disabilities and Sleep Disturbance
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Children; Adolescents; Sleep problem; Treatment; Developmental
disabilities; Parent
ID AUTISM SPECTRUM DISORDERS; RANDOMIZED CONTROLLED-TRIAL;
PLACEBO-CONTROLLED TRIAL; INDEX-SHORT FORM; NEURODEVELOPMENTAL
DISORDERS; ASPERGER-SYNDROME; CONDUCT PROBLEMS; YOUNG-CHILDREN;
DOWN-SYNDROME; INTELLECTUAL DISABILITY
AB The prevalence of sleep disturbance among children with developmental disabilities is known to be considerably higher than the typical population. The current study examined the effectiveness of the Sleepwise intervention program (O'Connell and Vannan in Aust Occup Ther J 55:212-214, 2008): a parent-assisted group-based treatment for sleep disturbance which was recently adapted for older children and adolescents with DD. Twenty-six families with children aged 8-17 years participated. The study compared a treatment and a wait-list control group at baseline, post-treatment and 2 months post-treatment on measures of child and parent functioning. Results demonstrated that the Sleepwise approach was effective in reducing sleep disturbance and parent stress. Limitations and future research directions are discussed.
C1 [Moss, Alicia H. B.; Gordon, Jocelynne E.] Monash Univ, Fac Educ, Melbourne, Vic 3800, Australia.
[O'Connell, Annie] Govt South Australia, Dept Commun & Social Inclus, Disabil Serv, Adelaide, SA, Australia.
RP Gordon, JE (reprint author), Monash Univ, Fac Educ, Bldg 6, Melbourne, Vic 3800, Australia.
EM jocelynne.gordon@monash.edu
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NR 78
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 JUL
PY 2014
VL 44
IS 7
BP 1695
EP 1707
DI 10.1007/s10803-014-2040-y
PG 13
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800018
PM 24442795
ER
PT J
AU Zuckerman, KE
Hill, AP
Guion, K
Voltolina, L
Fombonne, E
AF Zuckerman, Katharine E.
Hill, Alison P.
Guion, Kimberly
Voltolina, Lisa
Fombonne, Eric
TI Overweight and Obesity: Prevalence and Correlates in a Large Clinical
Sample of Children with Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Obesity; Overweight; Children
ID BODY-MASS INDEX; SCHOOL-AGED CHILDREN; CHILDHOOD OBESITY; SLEEP
PROBLEMS; RISK-FACTORS; ADOLESCENTS; POPULATION; MORTALITY; DEPRESSION;
WEIGHT
AB Autism Spectrum Disorders (ASDs) and childhood obesity (OBY) are rising public health concerns. This study aimed to evaluate the prevalence of overweight (OWT) and OBY in a sample of 376 Oregon children with ASD, and to assess correlates of OWT and OBY in this sample. We used descriptive statistics, bivariate, and focused multivariate analyses to determine whether socio-demographic characteristics, ASD symptoms, ASD cognitive and adaptive functioning, behavioral problems, and treatments for ASD were associated with OWT and OBY in ASD. Overall 18.1 % of children met criteria for OWT and 17.0 % met criteria for OBY. OBY was associated with sleep difficulties, melatonin use, and affective problems. Interventions that consider unique needs of children with ASD may hold promise for improving weight status among children with ASD.
C1 [Zuckerman, Katharine E.] Oregon Hlth & Sci Univ, Div Gen Pediat, Portland, OR 97239 USA.
[Zuckerman, Katharine E.] Oregon Hlth & Sci Univ, Child & Adolescent Hlth Measurement Initiat, Dept Pediat, Portland, OR 97239 USA.
[Hill, Alison P.] Oregon Hlth & Sci Univ, Ctr Spoken Language Understanding, Portland, OR 97239 USA.
[Hill, Alison P.; Guion, Kimberly; Voltolina, Lisa; Fombonne, Eric] Oregon Hlth & Sci Univ, Inst Dev & Disabil, Portland, OR 97239 USA.
[Guion, Kimberly] Oregon Hlth & Sci Univ, Div Child Psychol, Portland, OR 97239 USA.
[Voltolina, Lisa] Oregon Hlth & Sci Univ, Dept Behav Neurosci, Portland, OR 97239 USA.
[Fombonne, Eric] Oregon Hlth & Sci Univ, Dept Psychiat, Portland, OR 97239 USA.
RP Zuckerman, KE (reprint author), Oregon Hlth & Sci Univ, Div Gen Pediat, 707 SW Gaines Rd,Mail Code CDRC P, Portland, OR 97239 USA.
EM zuckerma@ohsu.edu
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NR 57
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 JUL
PY 2014
VL 44
IS 7
BP 1708
EP 1719
DI 10.1007/s10803-014-2050-9
PG 12
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800019
PM 24488158
ER
PT J
AU Siller, M
Swanson, M
Gerber, A
Hutman, T
Sigman, M
AF Siller, Michael
Swanson, Meghan
Gerber, Alan
Hutman, Ted
Sigman, Marian
TI A Parent-Mediated Intervention That Targets Responsive Parental
Behaviors Increases Attachment Behaviors in Children with ASD: Results
from a Randomized Clinical Trial
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Randomized clinical trial; Parent child communication;
Attachment; Intervention
ID AUTISM SPECTRUM DISORDER; AT-RISK MOTHERS; JOINT ATTENTION;
DEVELOPMENTAL DISORDERS; IRRITABLE INFANTS; YOUNG-CHILDREN;
DOWN-SYNDROME; MISSING DATA; COMMUNICATION; LANGUAGE
AB The current study is a randomized clinical trial evaluating the efficacy of Focused Playtime Intervention (FPI) in a sample of 70 children with Autism Spectrum Disorder. This parent-mediated intervention has previously been shown to significantly increase responsive parental communication (Siller et al. in J Autism Dev Disord 43:540-555, 2013a). The current analyses focus on children's attachment related outcomes. Results revealed that children who were randomly assigned to FPI showed bigger increases in attachment-related behaviors, compared to children assigned to the control condition. Significant treatment effects of FPI were found for both an observational measure of attachment-related behaviors elicited during a brief separation-reunion episode and a questionnaire measure evaluating parental perceptions of child attachment. The theoretical and clinical implications of these findings are discussed.
C1 [Siller, Michael; Hutman, Ted; Sigman, Marian] Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90024 USA.
[Siller, Michael; Swanson, Meghan; Gerber, Alan] CUNY, Hunter Coll, Dept Psychol, New York, NY 10065 USA.
RP Siller, M (reprint author), CUNY, Hunter Coll, Dept Psychol, RM 611 HN,695 Pk Ave, New York, NY 10065 USA.
EM msiller@hunter.cuny.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 JUL
PY 2014
VL 44
IS 7
BP 1720
EP 1732
DI 10.1007/s10803-014-2049-2
PG 13
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800020
PM 24488157
ER
PT J
AU Bauminger-Zviely, N
Agam-Ben-Artzi, G
AF Bauminger-Zviely, Nirit
Agam-Ben-Artzi, Galit
TI Young Friendship in HFASD and Typical Development: Friend Versus
Non-friend Comparisons
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE High-functioning children with autism spectrum disorder (ASD);
Preschool; Friendship; Dyads; Peer relations; Peer interaction
ID HIGH-FUNCTIONING CHILDREN; AUTISM SPECTRUM DISORDER; ASPERGER-SYNDROME;
PEER INTERACTION; SCHOOL; ADOLESCENTS; BEHAVIOR; BOYS; LONELINESS;
ADJUSTMENT
AB This study conducted comparative assessment of friendship in preschoolers with high-functioning autism spectrum disorder (HFASD, n = 29) versus preschoolers with typical development (n = 30), focusing on interactions with friends versus acquaintances. Groups were matched on SES, verbal/nonverbal MA, IQ, and CA. Multidimensional assessments included: mothers' and teachers' reports about friends' and friendship characteristics and observed individual and dyadic behaviors throughout interactions with friends versus non-friends during construction, drawing, and free-play situations. Findings revealed group differences in peer interaction favoring the typical development group, thus supporting the neuropsychological profile of HFASD. However, both groups' interactions with friends surpassed interactions with acquaintances on several key socio-communicative and intersubjective capabilities, thus suggesting that friendship may contribute to enhancement and practice of social interaction in HFASD.
C1 [Bauminger-Zviely, Nirit; Agam-Ben-Artzi, Galit] Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel.
RP Bauminger-Zviely, N (reprint author), Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel.
EM nirit.bauminger@biu.ac.il
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NR 67
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 JUL
PY 2014
VL 44
IS 7
BP 1733
EP 1748
DI 10.1007/s10803-014-2052-7
PG 16
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800021
PM 24488120
ER
PT J
AU Deschamps, PKH
Been, M
Matthys, W
AF Deschamps, Peter K. H.
Been, Marieke
Matthys, Walter
TI Empathy and Empathy Induced Prosocial Behavior in 6-and 7-Year-Olds with
Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Children; Cognitive empathy; Affective
empathy; Empathy induced prosocial behavior
ID HIGH-FUNCTIONING AUTISM; EMOTION RECOGNITION; ASPERGER-SYNDROME; COMPLEX
EMOTION; FUTURE-RESEARCH; FILMS TASK; CHILDREN; INDIVIDUALS; ADULTS;
MIND
AB The present study aimed to assess empathy and prosocial behavior in 6-7 year old children with autism spectrum disorders (ASDs). Results showed, first, lower levels of parent- and teacher-rated cognitive empathy, and similar levels of affective empathy in children with ASD compared to typically developing (TD) children. Second, emotion recognition for basic emotions, one aspect of cognitive empathy, in a story task was adequate in ASD children, but ASD children with severe impairments in social responsiveness had difficulties in recognizing fear. Third, prosocial behavior in response to signals of distress of a peer in a computer task was similar in ASD as in TD children. In conclusion, early elementary school children with ASD show specific impairments in cognitive empathy.
C1 [Deschamps, Peter K. H.; Been, Marieke; Matthys, Walter] Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Dept Psychiat, NL-3508 GA Utrecht, Netherlands.
[Matthys, Walter] Univ Utrecht, Dept Child & Adolescent Studies, Utrecht, Netherlands.
RP Deschamps, PKH (reprint author), Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Dept Psychiat, HP A01-468,Postbus 85500, NL-3508 GA Utrecht, Netherlands.
EM p.k.h.deschamps@umcutrecht.nl
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NR 49
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 JUL
PY 2014
VL 44
IS 7
BP 1749
EP 1758
DI 10.1007/s10803-014-2048-3
PG 10
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800022
PM 24488118
ER
PT J
AU Schwartz, C
Dratsch, T
Vogeley, K
Bente, G
AF Schwartz, Caroline
Dratsch, Thomas
Vogeley, Kai
Bente, Gary
TI Brief Report: Impression Formation in High-Functioning Autism: Role of
Nonverbal Behavior and Stereotype Activating Information
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE High-functioning autism (HFA); Impression formation; Nonverbal behavior;
Stereotype; Virtual characters
ID ASPERGER-SYNDROME; PERCEPTION
AB Little is known about whether stereotypes influence social judgments of autistic individuals, in particular when they compete with tacit face-to-face cues. We compared impression formation of 17 subjects with high-functioning autism (HFA) and 17 age-, gender- and IQ-matched controls. Information about the profession of a job applicant served as stereotype activating information. The target person's nonverbal behavior was presented as a computer animation showing two virtual characters in interaction. Contrary to our hypothesis, HFA participants were as sensitive to nonverbal cues as controls. Moreover, HFA showed a tendency to evaluate persons more positively. This might indicate a routine HFA apply in impression formation in order to compensate for their deficit in intuitive understanding of nonverbal communication cues.
C1 [Schwartz, Caroline; Dratsch, Thomas; Bente, Gary] Univ Cologne, Dept Social Psychol, D-50931 Cologne, Germany.
[Schwartz, Caroline] Klinikum Univ Munchen, Klin Psychiat & Psychotherapie, D-80336 Munich, Germany.
[Vogeley, Kai] Univ Hosp Cologne, Dept Psychiat & Psychotherapy, Cologne, Germany.
[Vogeley, Kai] Res Ctr Juelich, Inst Neurosci & Med, Julich, Germany.
RP Schwartz, C (reprint author), Univ Hosp, Dept Psychiat & Psychotherapy, Munich, Germany.
EM caroline.schwartz@gmx.de
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NR 22
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 JUL
PY 2014
VL 44
IS 7
BP 1759
EP 1765
DI 10.1007/s10803-013-2021-6
PG 7
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800023
PM 24362848
ER
PT J
AU Samson, AC
Phillips, JM
Parker, KJ
Shah, S
Gross, JJ
Hardan, AY
AF Samson, Andrea C.
Phillips, Jennifer M.
Parker, Karen J.
Shah, Shweta
Gross, James J.
Hardan, Antonio Y.
TI Emotion Dysregulation and the Core Features of Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism Spectrum Disorder; Core features; Emotion regulation;
Restricted/repetitive behaviors; Social/communication deficits; Sensory
abnormalities
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC
INTERVIEW; REPETITIVE BEHAVIOR; ASPERGERS SYNDROME; SENSORY PROFILE;
YOUNG-PEOPLE; CHILDREN; COMMUNICATION; INDIVIDUALS
AB The aim of this study was to examine the relationship between emotion dysregulation and the core features of Autism Spectrum Disorder (ASD), which include social/communication deficits, restricted/repetitive behaviors, and sensory abnormalities. An 18-item Emotion Dysregulation Index was developed on the basis of expert ratings of the Child Behavior Checklist. Compared to typically developing controls, children and adolescents with ASD showed more emotion dysregulation and had significantly greater symptom severity on all scales. Within ASD participants, emotion dysregulation was related to all core features of the disorder, but the strongest association was with repetitive behaviors. These findings may facilitate the development of more effective therapeutic strategies targeting emotion dysregulation in order to optimize long-term outcomes for individuals with ASD.
C1 [Samson, Andrea C.; Shah, Shweta; Gross, James J.] Stanford Univ, Dept Psychol, Stanford, CA 94305 USA.
[Phillips, Jennifer M.; Parker, Karen J.; Hardan, Antonio Y.] Stanford Univ, Dept Psychiat & Behav Sci, Sch Med, Stanford, CA 94305 USA.
RP Samson, AC (reprint author), Stanford Univ, Dept Psychol, 450 Serra Mall,Bldg 420, Stanford, CA 94305 USA.
EM andrea.samson@stanford.edu
CR Achenbach T. M., 1991, INTEGRATIVE GUIDE 19
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 34
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 JUL
PY 2014
VL 44
IS 7
BP 1766
EP 1772
DI 10.1007/s10803-013-2022-5
PG 7
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800024
PM 24362795
ER
PT J
AU Choque Olsson, N
Bolte, S
AF Choque Olsson, Nora
Bolte, Sven
TI Brief Report: "Quick and (not so) Dirty" Assessment of Change in Autism:
Cross-Cultural Reliability of the Developmental Disabilities CGAS and
the OSU Autism CGI
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Intervention; Outcome; Longitudinal; Asperger syndrome; Psychometrics
ID GLOBAL ASSESSMENT SCALE; SOCIAL RESPONSIVENESS SCALE; STANDARDIZED ADOS
SCORES; SPECTRUM DISORDERS; SEVERITY; SRS; CHILDREN; ADULTS
AB There are few evaluated economic tools to assess change in autism. This study examined the inter-rater reliability of the Developmental Disabilities Children's Global Assessment Scale (DD-CGAS), and the OSU Autism Clinical Global Impression (OSU Autism CGI) in a European setting. Using these scales, 16 clinicians with multidisciplinary background and varying experience independently rated eight vignettes of autism spectrum disorder for severity and general psychosocial functioning at referral and discharge. Intraclass correlation coefficient (ICCs) for experienced clinicians were .75 for the DD-CGAS and .72 for the OSU Autism CGI. In inexperienced clinicians these ICCs were .58 and .59. Results confirm previous North American studies, and further extents the reliability of the instruments to untrained, less experienced clinicians with different professions.
C1 [Choque Olsson, Nora; Bolte, Sven] Karolinska Inst, Ctr Neurodev Disorders KIND, Pediat Neuropsychiat Unit, Dept Womens & Childrens Hlth,CAP Res Ctr, S-11330 Stockholm, Sweden.
[Choque Olsson, Nora; Bolte, Sven] Stockholm Cty Council, Div Child & Adolescent Psychiat, Stockholm, Sweden.
RP Bolte, S (reprint author), Karolinska Inst, Ctr Neurodev Disorders KIND, Pediat Neuropsychiat Unit, Dept Womens & Childrens Hlth,CAP Res Ctr, Gavlegatan 22, S-11330 Stockholm, Sweden.
EM nora.choque-olsson@ki.se; sven.bolte@ki.se
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World Health Organisation, 1992, ICD 10 CLASS MENT BE
NR 30
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 JUL
PY 2014
VL 44
IS 7
BP 1773
EP 1778
DI 10.1007/s10803-013-2029-y
PG 6
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800025
PM 24379174
ER
PT J
AU Evers, K
de-Wit, L
Van der Hallen, R
Haesen, B
Steyaert, J
Noens, I
Wagemans, J
AF Evers, Kris
de-Wit, Lee
Van der Hallen, Ruth
Haesen, Birgitt
Steyaert, Jean
Noens, Ilse
Wagemans, Johan
TI Brief Report: Reduced Grouping Interference in Children with ASD:
Evidence from a Multiple Object Tracking Task
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Attention; Autism spectrum disorder (ASD); Global interference;
Grouping; Multiple object tracking; Weak central coherence
ID AUTISM SPECTRUM DISORDERS; PERCEPTUAL ORGANIZATION; VISUAL-PERCEPTION;
SPATIAL PROXIMITY; WEAK COHERENCE; MOTION; ATTENTION; INDIVIDUALS;
INTEGRATION; COLLINEARITY
AB This study was inspired by the more locally oriented processing style in autism spectrum disorders (ASD). A modified multiple object tracking (MOT) task was administered to a group of children with and without ASD. Participants not only had to distinguish moving targets from distracters, but they also had to track targets when they were visually grouped to distracters, a manipulation which has a detrimental effect on tracking performance in adults. MOT performance in the ASD group was also affected by grouping, but this effect was significantly reduced. This result highlights how the reduced bias towards more global processing in ASD could influence further stages of cognition by altering the way in which attention selects information for further processing.
C1 [Evers, Kris; de-Wit, Lee; Van der Hallen, Ruth; Haesen, Birgitt; Wagemans, Johan] Katholieke Univ Leuven, Expt Psychol Lab, B-3000 Leuven, Belgium.
[Evers, Kris; Steyaert, Jean] UPC KU Leuven, Dept Child Psychiat, Leuven, Belgium.
[Evers, Kris; Van der Hallen, Ruth; Haesen, Birgitt; Steyaert, Jean; Noens, Ilse; Wagemans, Johan] Katholieke Univ Leuven, Leuven Autism Res LAuRes, B-3000 Leuven, Belgium.
[Steyaert, Jean] Univ Hosp Maastricht, Dept Clin Genet, Maastricht, Netherlands.
[Noens, Ilse] Katholieke Univ Leuven, Parenting & Special Educ Res Unit, B-3000 Leuven, Belgium.
[Noens, Ilse] Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
RP Evers, K (reprint author), Katholieke Univ Leuven, Expt Psychol Lab, Tiensestr 102,Box 3711, B-3000 Leuven, Belgium.
EM kris.evers@psy.kuleuven.be
RI Steyaert, Jean/B-5326-2015
OI Steyaert, Jean/0000-0003-2512-4694
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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White SJ, 2011, J AUTISM DEV DISORD, V41, P1565, DOI 10.1007/s10803-011-1182-4
NR 56
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 JUL
PY 2014
VL 44
IS 7
BP 1779
EP 1787
DI 10.1007/s10803-013-2031-4
PG 9
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800026
PM 24398878
ER
PT J
AU Waterhouse, L
Gillberg, C
AF Waterhouse, Lynn
Gillberg, Christopher
TI Why Autism Must be Taken Apart
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; ASD; Brain dysfunction; DSM-5; Pathophysiology; RDoC
ID TUBEROUS SCLEROSIS COMPLEX; SPECTRUM DISORDERS; CLASSIFICATION;
METAANALYSIS; CEREBELLUM; HYPOPLASIA; CHILDREN; INFANTS; FUTURE; CORTEX
AB Although accumulated evidence has demonstrated that autism is found with many varied brain dysfunctions, researchers have tried to find a single brain dysfunction that would provide neurobiological validity for autism. However, unitary models of autism brain dysfunction have not adequately addressed conflicting evidence, and efforts to find a single unifying brain dysfunction have led the field away from research to explore individual variation and micro-subgroups. Autism must be taken apart in order to find neurobiological treatment targets. Three research changes are needed. The belief that there is a single defining autism spectrum disorder brain dysfunction must be relinquished. The noise caused by the thorny brain-symptom inference problem must be reduced. Researchers must explore individual variation in brain measures within autism.
C1 [Waterhouse, Lynn] Coll New Jersey, Global Grad Programs, Child Behav Study, Ewing, NJ 08628 USA.
[Gillberg, Christopher] Gothenburg Univ, Gillberg Neuropsychiat Ctr, Gothenburg, Sweden.
RP Waterhouse, L (reprint author), Coll New Jersey, Global Grad Programs, Child Behav Study, Ewing, NJ 08628 USA.
EM lynwater@tcnj.edu; christopher.gillberg@pediat.gu.se
CR Allely C. S., 2013, BEHAV NEUROL, DOI [10.3233/BEN-130350, DOI 10.3233/BEN-130350]
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Aoki Y, 2013, MOL AUTISM, V4, DOI 10.1186/2040-2392-4-25
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NR 52
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 JUL
PY 2014
VL 44
IS 7
BP 1788
EP 1792
DI 10.1007/s10803-013-2030-5
PG 5
WC Psychology, Developmental
SC Psychology
GA AJ5TY
UT WOS:000337752800027
PM 24390538
ER
PT J
AU O'Nions, E
Christie, P
Gould, J
Viding, E
Happe, F
AF O'Nions, Elizabeth
Christie, Phil
Gould, Judith
Viding, Essi
Happe, Francesca
TI Development of the "Extreme Demand Avoidance Questionnaire' (EDA-Q):
preliminary observations on a trait measure for Pathological Demand
Avoidance
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Autism spectrum disorder; ASD; pathological demand avoidance; PDA;
pervasive developmental disorder; conduct problems; oppositional defiant
disorder; ODD; disruptive behaviour
ID DIFFICULTIES QUESTIONNAIRE; DISORDERS; STRENGTHS
AB Background Pathological Demand Avoidance (PDA) is a term increasingly used in the United Kingdom to describe children who obsessively resist everyday demands, going to extreme lengths to avoid these. There is debate about its relationship with both autism spectrum disorder (ASD) and oppositional defiant disorder (ODD). Unlike ASD, children with PDA are said to use socially manipulative avoidance strategies; and unlike ODD, they resort to extreme, embarrassing or age-inappropriate behaviour. To date, there has been little research into PDA, and it remains contentious. Currently, there are no questionnaire instruments available to aid consistency in description. This study reports the development and preliminary validation of the Extreme Demand Avoidance Questionnaire' (EDA-Q), designed to quantify PDA traits based on parent-reported information. Methods The validation study involved data from 326 parents of children aged 5-17 allocated to six groups based on information reported by parents about received diagnoses and behavioural difficulties: (a) typically developing children (N=102), (b) children with ASD without disruptive behaviour (N=36), (c) children with ASD with disruptive behaviour (N=48), (d) children for whom PDA was suspected by parents (irrespective of other diagnoses) (N=67), (e) children who had, according to parents, been identified as having PDA by a health professional, irrespective of other diagnoses (N=50), and (6) disruptive behaviour or behavioural problems without suspected/identified ASD or PDA (N=23). Results Although the Strengths and Difficulties Questionnaire (SDQ) did not differentiate PDA from those with ASD plus disruptive behaviour; score on the EDA-Q was significantly higher in PDA than all comparison groups. ROC analysis indicated good sensitivity (.80) and specificity (.85). Across all case groups, females scored higher than males on the EDA-Q. Separate cut-off scores were identified for older and younger age-groups. Conclusions Our findings highlight the potential utility of the EDA-Q to assist the identification of this unusual profile for future research.
C1 [O'Nions, Elizabeth; Happe, Francesca] Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London SE5 8AF, England.
[Christie, Phil] Sutherland House Childrens Serv NORSACA, Elizabeth Newson Ctr, Southwold, Notts, England.
[Gould, Judith] NAS Lorna Wing Ctr Autism, Bromley, Kent, England.
[Viding, Essi] UCL, Dev Risk & Resilience Unit, Div Psychol & Language Sci, Clin Educ & Hlth Psychol Res Dept, London, England.
RP O'Nions, E (reprint author), Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat, Denmark Hill, London SE5 8AF, England.
EM elizabeth.onions@kcl.ac.uk
FU ESRC
FX E. O'N is supported by an ESRC PhD studentship. P. C. receives payment
for consultancy and training from voluntary and statutory bodies. The
authors have declared that they have no competing or potential conflicts
of interest. The authors are very grateful to the clinicians who
assisted in developing the measure. They are also very grateful to the
parents who took part in this study; and to the schools, parent groups
and web groups who assisted with recruitment and supported this
research.
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NR 10
TC 1
Z9 1
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 JUL
PY 2014
VL 55
IS 7
BP 758
EP 768
DI 10.1111/jcpp.12149
PG 11
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AJ9DW
UT WOS:000338008300003
PM 24117718
ER
PT J
AU Musser, ED
Hawkey, E
Kachan-Liu, SS
Lees, P
Roullet, JB
Goddard, K
Steiner, RD
Nigg, JT
AF Musser, Erica D.
Hawkey, Elizabeth
Kachan-Liu, Svetlana S.
Lees, Paul
Roullet, Jean-Baptiste
Goddard, Katrina
Steiner, Robert D.
Nigg, Joel T.
TI Shared familial transmission of autism spectrum and
attention-deficit/hyperactivity disorders
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Attention-deficit; hyperactivity disorder; autism spectrum disorder;
shared familial transmission
ID DEFICIT-HYPERACTIVITY DISORDER; PSYCHIATRIC-DISORDERS; GENETIC
INFLUENCES; TWIN SAMPLE; CHILDREN; SYMPTOMS; ADHD; ADOLESCENTS;
PREVALENCE; PSYCHOPATHOLOGY
AB Background To determine whether familial transmission is shared between autism spectrum disorders and attention-deficit/hyperactivity disorder, we assessed the prevalence, rates of comorbidity, and familial transmission of both disorders in a large population-based sample of children during a recent 7 year period. Methods Study participants included all children born to parents with the Kaiser Permanente Northwest (KPNW) Health Plan between 1 January 1998 and 31 December 2004 (n=35,073). Children and mothers with physician-identified autism spectrum disorders (ASD) and/or attention-deficit/hyperactivity disorder (ADHD) were identified via electronic medical records maintained for all KPNW members. Results Among children aged 6-12years, prevalence was 2.0% for ADHD and 0.8% for ASD; within those groups, 0.2% of the full sample (19% of the ASD sample and 9.6% of the ADHD sample) had co-occurring ASD and ADHD, when all children were included. When mothers had a diagnosis of ADHD, first born offspring were at 6-fold risk of ADHD alone (OR=5.02, p<.0001) and at 2.5-fold risk of ASD alone (OR=2.52, p<.01). Results were not accounted for by maternal age, child gestational age, child gender, and child race. Conclusions Autism spectrum disorders shares familial transmission with ADHD. ADHD and ASD have a partially overlapping diathesis.
C1 [Musser, Erica D.; Hawkey, Elizabeth; Roullet, Jean-Baptiste; Nigg, Joel T.] Oregon Hlth & Sci Univ, Portland, OR 97201 USA.
[Musser, Erica D.] Univ Oregon, Eugene, OR 97403 USA.
[Kachan-Liu, Svetlana S.] Johns Hopkins Sch Med, Baltimore, MD USA.
[Lees, Paul; Goddard, Katrina] Kaiser Permanente Northwest, Portland, OR USA.
[Steiner, Robert D.] Univ Wisconsin, Marshfield Clin Res Fdn, Marshfield, WI USA.
RP Musser, ED (reprint author), Coll Arts & Sci, Dept Psychol, 11200 SW 8th St,AHC4-455, Miami, FL 33199 USA.
EM mussere@ohsu.edu
FU NIMH [R01-MH59105]
FX This research was supported in part by NIMH R01-MH59105, awarded to
J.T.N. E.D.M co-conceptualized the study, carried out the analyses,
drafted the initial manuscript; E. H assisted with data assembly and
data set preparation; S. S. K assisted in analysis, reviewed the
manuscript; P. L assisted with the retrieval and organization of the
data; J-B.R assisted in conceptualization of the study; K. G assisted
with the retrieval and organization of the data; R. D. S assisted in
conceptualization of the study, helped obtain the data; J.T.N
co-conceptualized the study, oversaw the analyses, critically reviewed
and helped draft the manuscript. The authors thank Jennifer Stubbs and
Oregon Clinical & Translational Research for regulatory assistance, as
well as Kaiser Permanente Northwest for their support and access to the
data. All the authors critically reviewed and approved the final
manuscript. All authors declare that they have no potential or competing
conflicts of interest.
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NR 40
TC 4
Z9 4
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 JUL
PY 2014
VL 55
IS 7
BP 819
EP 827
DI 10.1111/jcpp.12201
PG 9
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AJ9DW
UT WOS:000338008300011
PM 24444366
ER
PT J
AU Belling, R
McLaren, S
Paul, M
Ford, T
Kramer, T
Weaver, T
Hovish, K
Islam, Z
White, S
Singh, SP
AF Belling, Ruth
McLaren, Susan
Paul, Moli
Ford, Tamsin
Kramer, Tami
Weaver, Tim
Hovish, Kimberly
Islam, Zoebia
White, Sarah
Singh, Swaran P.
TI The effect of organisational resources and eligibility issues on
transition from child and adolescent to adult mental health services
SO JOURNAL OF HEALTH SERVICES RESEARCH & POLICY
LA English
DT Article
DE resources; transition from child/adolescent to adult mental health
services
ID CARE
AB Objectives: To investigate the organisational factors that impede or facilitate transition of young people from child and adolescent (CAMHS) to adult mental health services (AMHS).
Methods: Thirty-four semi-structured interviews were conducted with health and social care professionals working in child and adult services in four English NHS Mental Health Trusts and voluntary organisations. Data were analysed thematically using a structured framework.
Results: Findings revealed a lack of clarity on service availability and the operation of different eligibility criteria between child and adult mental health services, with variable service provision for young people with attention deficit hyperactivity disorder, autism spectrum disorders and learning disabilities. High workloads and staff shortages were perceived to influence service thresholds and eligibility criteria.
Conclusions: A mutual lack of understanding of services and structures together with restrictive eligibility criteria exacerbated by perceived lack of resources can impact negatively on the transition between CAMHS and AMHS, disrupting continuity of care for young people.
C1 [Belling, Ruth] Evaluat Works, Bedford, England.
[McLaren, Susan] London S Bank Univ, Fac Hlth & Social Care, London SE1 0AA, England.
[Paul, Moli; Singh, Swaran P.] Univ Warwick, Warwick Med Sch, Div Mental Hlth & Well Being, Coventry CV4 7AL, W Midlands, England.
[Ford, Tamsin] Univ Exeter, Sch Med, Exeter EX4 4QJ, Devon, England.
[Kramer, Tami; Weaver, Tim] Imperial Coll London, Fac Med, London, England.
[Hovish, Kimberly] Univ London, Inst Educ, Dept Childhood Families & Hlth, London WC1E 7HU, England.
[Islam, Zoebia] Leicestershire & Rutland & Birmingham & Solihull, LOROS Hosp Care Leicester, Birmingham, W Midlands, England.
[White, Sarah] Univ London, Sect Mental Hlth, Div Populat Hlth Sci & Educ, London WC1E 7HU, England.
RP McLaren, S (reprint author), London S Bank Univ, Fac Hlth & Social Care, London SE1 0AA, England.
EM mclaresm@lsbu.ac.uk
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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 1355-8196
EI 1758-1060
J9 J HEALTH SERV RES PO
JI J. Health Serv. Res. Policy
PD JUL
PY 2014
VL 19
IS 3
BP 169
EP 176
DI 10.1177/1355819614527439
PG 8
WC Health Policy & Services
SC Health Care Sciences & Services
GA AJ8MK
UT WOS:000337958800007
ER
PT J
AU Casanova, MF
AF Casanova, Manuel F.
TI Autism as a sequence: From heterochronic germinal cell divisions to
abnormalities of cell migration and cortical dysplasias
SO MEDICAL HYPOTHESES
LA English
DT Article
ID LEMLI-OPITZ-SYNDROME; PERIVENTRICULAR NODULAR HETEROTOPIA; TUBEROUS
SCLEROSIS COMPLEX; PRENATAL COCAINE EXPOSURE; EHLERS-DANLOS-SYNDROME;
FINAL COMMON PATHWAY; SPECTRUM DISORDERS; NEURONAL MIGRATION; PREFRONTAL
CORTEX; BRAIN
AB The considerable heterogeneity in the number and severity of symptoms observed in autism spectrum disorders (ASD) has been regarded as an obstacle to any future research. Some authors believe that clinical heterogeneity results from the complex interplay of the many genetic and environmental factors that themselves define a condition as multifactorial. However, it is important to note that neuropathological findings in both idiopathic and syndromic autism suggests a single pathophysiological mechanism acting during brain development: the heterochronic division of germinal cells and subsequent migrational abnormalities of daughter cells to their target fields. Multiple exogenous (e.g., viruses, drugs) and endogenous (e.g., genetic mutations) factors are known to disrupt the division of germinal cells and provide for an autism phenotype. The variety of endogenous and exogenous factors, their timing of action during brain development, and the genetic susceptibility of affected individuals (a Triple Hit hypothesis) may all account for the clinical heterogeneity of ASD. Published by Elsevier Ltd.
C1 Univ Louisville, Dept Psychiat, Louisville, KY 40202 USA.
RP Casanova, MF (reprint author), Univ Louisville, Dept Psychiat, 500 South Preston St,Bldg A,Room 217, Louisville, KY 40202 USA.
EM m0casa02@louisville.edu
FU National Institutes of Health [R01 MH-86784]
FX The author received funding from National Institutes of Health grant R01
MH-86784 "Building a selective inhibitory control tone in autism: an
rTMS study".
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NR 82
TC 1
Z9 1
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 JUL
PY 2014
VL 83
IS 1
BP 32
EP 38
DI 10.1016/j.mehy.2014.04.014
PG 7
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AJ7NW
UT WOS:000337884400007
PM 24780284
ER
PT J
AU Uddin, M
Tammimies, K
Pellecchia, G
Alipanahi, B
Hui, PZ
Wang, ZZ
Pinto, D
Lau, L
Nalpathamkalam, T
Marshall, CR
Blencowe, BJ
Frey, BJ
Merico, D
Yuen, RKC
Scherer, SW
AF Uddin, Mohammed
Tammimies, Kristiina
Pellecchia, Giovanna
Alipanahi, Babak
Hui, Pingzhao
Wang, Zhuozhi
Pinto, Dalila
Lau, Lynette
Nalpathamkalam, Thomas
Marshall, Christian R.
Blencowe, Benjamin J.
Frey, Brendan J.
Merico, Daniele
Yuen, Ryan K. C.
Scherer, Stephen W.
TI Brain-expressed exons under purifying selection are enriched for de novo
mutations in autism spectrum disorder
SO NATURE GENETICS
LA English
DT Article
ID COPY-NUMBER VARIATION; INTELLECTUAL DISABILITY; FUNCTIONAL IMPACT;
VARIANTS; EXOMES; SCHIZOPHRENIA; EVOLUTION; DELETIONS; PATHWAYS;
PARADIGM
AB A universal challenge in genetic studies of autism spectrum disorders (ASDs) is determining whether a given DNA sequence alteration will manifest as disease. Among different population controls, we observed, for specific exons, an inverse correlation between exon expression level in brain and burden of rare missense mutations. For genes that harbor de novo mutations predicted to be deleterious, we found that specific critical exons were significantly enriched in individuals with ASD relative to their siblings without ASD (P < 1.13 x 10(-38); odds ratio (OR) = 2.40). Furthermore, our analysis of genes with high exonic expression in brain and low burden of rare mutations demonstrated enrichment for known ASD-associated genes (P < 3.40 x 10(-11); OR = 6.08) and ASD-relevant fragile-X protein targets (P < 2.91 x 10(-157); OR = 9.52). Our results suggest that brain-expressed exons under purifying selection should be prioritized in genotype-phenotype studies for ASD and related neurodevelopmental conditions.
C1 [Uddin, Mohammed; Tammimies, Kristiina; Pellecchia, Giovanna; Hui, Pingzhao; Wang, Zhuozhi; Lau, Lynette; Nalpathamkalam, Thomas; Marshall, Christian R.; Merico, Daniele; Yuen, Ryan K. C.; Scherer, Stephen W.] Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1X8, Canada.
[Tammimies, Kristiina] Karolinska Inst, Dept Womens & Childrens Hlth, Neuropsychiat Unit, Ctr Neurodev Disorders KIND, Stockholm, Sweden.
[Alipanahi, Babak; Frey, Brendan J.] Univ Toronto, Dept Elect & Comp Engn, Toronto, ON, Canada.
[Pinto, Dalila] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA.
[Pinto, Dalila] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA.
[Pinto, Dalila] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA.
[Marshall, Christian R.; Scherer, Stephen W.] Univ Toronto, McLaughlin Ctr, Toronto, ON, Canada.
[Blencowe, Benjamin J.; Frey, Brendan J.] Univ Toronto, Donnelly Ctr, Toronto, ON, Canada.
[Blencowe, Benjamin J.; Scherer, Stephen W.] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.
RP Scherer, SW (reprint author), Hosp Sick Children, Ctr Appl Genom, 555 Univ Ave, Toronto, ON M5G 1X8, Canada.
EM stephen.scherer@sickkids.ca
RI Scherer, Stephen /B-3785-2013; Yuen, Ryan/J-4876-2012
OI Scherer, Stephen /0000-0002-8326-1999;
FU University of Toronto McLaughlin Centre, NeuroDevNet, Genome Canada;
Ontario Genomics Institute [4445]; Canadian Institutes for Health
Research (CIHR) [FEN 74527, FRNXGG818]; Canadian Institute for Advanced
Research; Canada Foundation for Innovation; government of Ontario
[GL2-01-013]; Ontario Brain Institute; Autism Speaks Meixner; Swedish
Research Council
FX We thank the Centre for Applied Genomics for informatics support, the
Allen Institute of Brain Science, the National Heart, Lung, and Blood
Institute (NHLBI) and the Autism Genome Project for sharing data. We
thank J. Buchanan for critical review and editing of the manuscript.
This work 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) (FEN 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.
R.K.C.Y. holds an Autism Speaks Meixner Fellowship in Translational
Research. K.T. holds a fellowship from the Swedish Research Council.
S.W.S. holds the GlaxoSmithKline-CIHR Chair in Genome Sciences at the
University of Toronto and the Hospital for Sick Children.
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NR 35
TC 17
Z9 18
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 JUL
PY 2014
VL 46
IS 7
BP 742
EP 747
DI 10.1038/ng.2980
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA AK0HP
UT WOS:000338093800017
PM 24859339
ER
PT J
AU Murphy, SK
AF Murphy, Susan K.
TI Paternal obesity-a risk factor for autism?
SO NATURE REVIEWS ENDOCRINOLOGY
LA English
DT Editorial Material
ID TWIN PAIRS; DISORDERS
AB The aetiology of autism-spectrum disorders is partly explained by genetic factors, but a substantial component is attributed to environmental exposures. New evidence suggests that paternal obesity increases the risk of having a child with autism, which raises the possibility that obesity-driven, autism-related shifts in epigenetic reprogramming occur during spermatogenesis.
C1 Duke Univ, Med Ctr, Dept Obstet & Gynecol, Durham, NC 27708 USA.
RP Murphy, SK (reprint author), Duke Univ, Med Ctr, Dept Obstet & Gynecol, B226 LSRC Box 91012,Res Dr, Durham, NC 27708 USA.
EM susan.murphy@duke.edu
CR BARTON SC, 1984, NATURE, V311, P374, DOI 10.1038/311374a0
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Suren P, 2014, PEDIATRICS, V133, pE1128, DOI 10.1542/peds.2013-3664
NR 9
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1759-5029
EI 1759-5037
J9 NAT REV ENDOCRINOL
JI Nat. Rev. Endocrinol.
PD JUL
PY 2014
VL 10
IS 7
BP 389
EP 390
DI 10.1038/nrendo.2014.81
PG 2
WC Endocrinology & Metabolism
SC Endocrinology & Metabolism
GA AK0IT
UT WOS:000338096800006
PM 24889901
ER
PT J
AU Ezegwui, IR
Lawrence, L
Aghaji, AE
Okoye, OI
Okoye, O
Onwasigwe, EN
Ebigbo, PO
AF Ezegwui, I. R.
Lawrence, L.
Aghaji, A. E.
Okoye, O. I.
Okoye, O.
Onwasigwe, E. N.
Ebigbo, P. O.
TI Refractive errors in children with autism in a developing country
SO NIGERIAN JOURNAL OF CLINICAL PRACTICE
LA English
DT Article
DE Autism; developing country; refractive error
ID DISORDERS; NEEDS
AB Background: In a resource-limited country visual problems of mentally challenged individuals are often neglected. Aim: The present study aims to study refractive errors in children diagnosed with autism in a developing country.
Materials and Methods: Ophthalmic examination was carried out on children diagnosed with autism attending a school for the mentally challenged in Enugu, Nigeria between December 2009 and May 2010. Visual acuity was assessed using Lea symbols. Anterior and posterior segments were examined. Cycloplegic refraction was performed. Data was entered on the protocol prepared for the study and analyzed using Statistical Package for the Social Sciences version 17 (Chicago IL, USA).
Results: A total of 21 children with autism were enrolled in the school; 18 of whom were examined giving coverage of 85.7%. The age range was 5-15 years, with a mean of 10.28 years (standard deviation +/- 3.20). There were 13 boys and 5 girls. One child had bilateral temporal pallor of the disc and one had bilateral maculopathy with diffuse chorioretinal atrophy. Refraction revealed 4 children (22.2%) had astigmatism and 2 children (11.1%) had hypermetropia.
Conclusion: Significant refractive error mainly astigmatism was noted in the children with autism. Identifying refractive errors in these children early and providing appropriate corrective lenses may help optimize their visual functioning and impact their activities of daily life in a positive way.
C1 [Ezegwui, I. R.; Aghaji, A. E.; Okoye, O. I.; Okoye, O.; Onwasigwe, E. N.] Univ Nigeria, Teaching Hosp, Dept Ophthalmol, Enugu, Nigeria.
[Ebigbo, P. O.] Univ Nigeria, Teaching Hosp, Dept Psychol Med, Enugu, Nigeria.
RP Ezegwui, IR (reprint author), Univ Nigeria, Teaching Hosp, Dept Ophthalmol, Enugu, Nigeria.
EM ifeoma.ezegwui@unn.edu.ng
CR Aghaji AE, 2013, EUR J OPHTHALMOL, V23, P394, DOI 10.5301/ejo.5000222
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NR 20
TC 0
Z9 0
PU MEDKNOW PUBLICATIONS & MEDIA PVT LTD
PI MUMBAI
PA B-9, KANARA BUSINESS CENTRE, OFF LINK RD, GHAKTOPAR-E, MUMBAI, 400075,
INDIA
SN 1119-3077
J9 NIGER J CLIN PRACT
JI Niger. J. Clin. Pract.
PD JUL-AUG
PY 2014
VL 17
IS 4
BP 467
EP 470
DI 10.4103/1119-3077.134042
PG 4
WC Medicine, General & Internal
SC General & Internal Medicine
GA AJ7YW
UT WOS:000337919200013
PM 24909471
ER
PT J
AU Elmose, M
Trillingsgaard, A
Jorgensen, M
Nielsen, A
Bruhn, SS
Sorensen, EU
AF Elmose, Mette
Trillingsgaard, Anegen
Jorgensen, Meta
Nielsen, Asta
Bruhn, Susanne S.
Sorensen, Ester U.
TI Follow-up at mid-school age (9-13 years) of children assessed for autism
spectrum disorder before the age of four
SO NORDIC JOURNAL OF PSYCHIATRY
LA English
DT Article
DE Autism spectrum disorder; Diagnostic stability; Follow-up; Outcome;
Prediction
ID DIAGNOSTIC-OBSERVATION-SCHEDULE; PERVASIVE DEVELOPMENTAL DISORDERS;
BEHAVIORAL INTERVENTION; REVISED ALGORITHMS; YOUNG-CHILDREN; PRESCHOOL;
PREDICTORS; STABILITY; VALIDITY; TIME
AB Background : Studies of diagnosis and outcome in mid-school age children (9-13 years) referred early in life for a suspected autism spectrum disorder (ASD) are scarce.
Aims : This study aimed to describe outcome, developmental change and the stability of the early diagnosis in mid-school age.
Methods : Children consecutively referred to a specialized autism unit at a regional psychiatric diagnostic centre in Denmark before the age of 4 were contacted in mid-school age (9-13 years). 14 children with ASD and 9 children diagnosed outside the spectrum were included. Current clinical diagnosis, autism characteristics, intellectual abilities and adaptive functioning were assessed at follow-up, and investigated in relation to early measures of intellectual abilities and difficulties in social and communicative situations.
Results : The stability of an early ASD diagnosis was confirmed. However, a high degree of change into the autism spectrum was found for children who were initially diagnosed with another developmental disorder. A positive change with regard to IQ level was evident at the individual level. At group level, there was a tendency for lower functioning in the children diagnosed early with ASD. Early measures of intellectual abilities, and of social and communicative difficulties, predicted between 16% and 50% of the variance in intellectual abilities and adaptive functioning.
Conclusions: The findings are in line with follow-up studies in preschool and early school age but highlight the need to monitor early diagnostic decisions, and the need for more nuanced baseline and outcome measures that may help increase our prognostic understanding.
C1 [Elmose, Mette] Univ Southern Denmark, Dept Psychol, DK-5230 Odense M, Denmark.
[Elmose, Mette; Trillingsgaard, Anegen] Univ Aarhus, Dept Psychol, Aarhus C, Denmark.
[Trillingsgaard, Anegen; Jorgensen, Meta; Nielsen, Asta; Bruhn, Susanne S.; Sorensen, Ester U.] Aarhus Univ Hosp, Reg Ctr Child & Adolescent Psychiat, Risskov, Denmark.
RP Elmose, M (reprint author), Univ Southern Denmark, Dept Psychol, Campusvej 55, DK-5230 Odense M, Denmark.
EM melandersen@health.sdu.dk
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Wechsler D., 2004, WECHSLER INTELLIGENC
Wechsler D, 1999, WECHSLER PRESCHOOL P
NR 38
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 0803-9488
EI 1502-4725
J9 NORD J PSYCHIAT
JI Nord. J. Psychiatr.
PD JUL
PY 2014
VL 68
IS 5
BP 362
EP 368
DI 10.3109/08039488.2013.846411
PG 7
WC Psychiatry
SC Psychiatry
GA AJ5WN
UT WOS:000337761100012
PM 24199947
ER
PT J
AU Li, Y
Zhao, XY
AF Li, Yue
Zhao, Xinyu
TI Concise Review: Fragile X Proteins in Stem Cell Maintenance and
Differentiation
SO STEM CELLS
LA English
DT Review
DE Adult stem cells; Nervous system; Neural stem cell; Pluripotent stem
cells; Developmental biology; Neural differentiation; Stem cell
plasticity; Fragile X syndrome; FMRP
ID MENTAL-RETARDATION PROTEIN; RNA-BINDING PROTEIN; ADULT HIPPOCAMPAL
NEUROGENESIS; GROUP-I MGLUR; MOUSE MODEL; MESSENGER-RNA; NEURAL STEM;
PROGENITOR CELLS; FMRP PHOSPHORYLATION; SPINE MORPHOGENESIS
AB Fragile X syndrome (FXS), the most common genetic form of autism spectrum disorder, is caused by deficiency of the fragile X mental retardation protein (FMRP). Despite extensive research and scientific progress, understanding how FMRP regulates brain development and function remains a major challenge. FMRP is a neuronal RNA-binding protein that binds about a third of messenger RNAs in the brain and controls their translation, stability, and cellular localization. The absence of FMRP results in increased protein synthesis, leading to enhanced signaling in a number of intracellular pathways, including the mTOR, mGLuR5, ERK, Gsk3 beta, PI3K, and insulin pathways. Until recently, FXS was largely considered a deficit of mature neurons; however, a number of new studies have shown that FMRP may also play important roles in stem cells, among them neural stem cells, germline stem cells, and pluripotent stem cells. In this review, we will cover these newly discovered functions of FMRP, as well as the other two fragile X-related proteins, in stem cells. We will also discuss the literature on the use of stem cells, particularly neural stem cells and induced pluripotent stem cells, as model systems for studying the functions of FMRP in neuronal development.
C1 [Zhao, Xinyu] Univ Wisconsin, Waisman Ctr, Sch Med & Publ Hlth, Madison, WI 53705 USA.
[Zhao, Xinyu] Univ Wisconsin, Dept Neurosci, Sch Med & Publ Hlth, Madison, WI 53705 USA.
RP Zhao, XY (reprint author), Univ Wisconsin, Waisman Ctr, Sch Med & Publ Hlth, Madison, WI 53705 USA.
EM xzhao69@wisc.edu
FU NIH [R01MH080434, R01MH078972, P30HD03352]
FX We thank Cheryl T. Strauss for editing. This work was supported by
grants from the NIH (R01MH080434 and R01MH078972 to X.Z.), FRAXA (to
X.Z.), and a Center Grant from the NIH to the Waisman Center
(P30HD03352).
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NR 97
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1066-5099
EI 1549-4918
J9 STEM CELLS
JI Stem Cells
PD JUL
PY 2014
VL 32
IS 7
BP 1724
EP 1733
DI 10.1002/stem.1698
PG 10
WC Cell & Tissue Engineering; Biotechnology & Applied Microbiology;
Oncology; Cell Biology; Hematology
SC Cell Biology; Biotechnology & Applied Microbiology; Oncology; Hematology
GA AJ6FI
UT WOS:000337785200004
PM 24648324
ER
PT J
AU Kim, TG
Yao, RQ
Monnell, T
Cho, JH
Vasudevan, A
Koh, A
Kumar, TP
Moon, MH
Datta, D
Bolshakov, VY
Kim, KS
Chung, SM
AF Kim, Tae-Gon
Yao, Ruiqin
Monnell, Travis
Cho, Jun-Hyeong
Vasudevan, Anju
Koh, Alice
Kumar, Peeyush T.
Moon, Minho
Datta, Debkanya
Bolshakov, Vadim Y.
Kim, Kwang-Soo
Chung, Sangmi
TI Efficient Specification of Interneurons from Human Pluripotent Stem
Cells by Dorsoventral and Rostrocaudal Modulation
SO STEM CELLS
LA English
DT Article
DE Pluripotent stem cells; Medial ganglionic eminence; Interneurons;
Differentiation
ID SONIC HEDGEHOG; FUNCTIONAL MATURATION; CORTICAL INTERNEURONS; NEURAL
DEVELOPMENT; GENE-FUNCTION; MOUSE MODEL; HUMAN ES; DIFFERENTIATION;
SCHIZOPHRENIA; EXPRESSION
AB GABAergic interneurons regulate cortical neural networks by providing inhibitory inputs, and their malfunction, resulting in failure to intricately regulate neural circuit balance, is implicated in brain diseases such as Schizophrenia, Autism, and Epilepsy. During early development, GABAergic interneuron progenitors arise from the ventral telencephalic area such as medial ganglionic eminence (MGE) and caudal ganglionic eminence (CGE) by the actions of secreted signaling molecules from nearby organizers, and migrate to their target sites where they form local synaptic connections. In this study, using combinatorial and temporal modulation of developmentally relevant dorsoventral and rostrocaudal signaling pathways (SHH, Wnt, and FGF8), we efficiently generated MGE cells from multiple human pluripotent stem cells. Most importantly, modulation of FGF8/FGF19 signaling efficiently directed MGE versus CGE differentiation. Human MGE cells spontaneously differentiated into Lhx6-expressing GABAergic interneurons and showed migratory properties. These human MGE-derived neurons generated GABA, fired action potentials, and displayed robust GABAergic postsynaptic activity. Transplantation into rodent brains results in well-contained neural grafts enriched with GABAergic interneurons that migrate in the host and mature to express somatostatin or parvalbumin. Thus, we propose that signaling modulation recapitulating normal developmental patterns efficiently generate human GABAergic interneurons. This strategy represents a novel tool in regenerative medicine, developmental studies, disease modeling, bioassay, and drug screening.
C1 [Kim, Tae-Gon; Yao, Ruiqin; Monnell, Travis; Koh, Alice; Moon, Minho; Datta, Debkanya; Kim, Kwang-Soo; Chung, Sangmi] Harvard Univ, Sch Med, McLean Hosp, Mol Neurobiol Lab,Dept Psychiat, Belmont, MA 02178 USA.
[Kim, Tae-Gon; Yao, Ruiqin; Monnell, Travis; Koh, Alice; Moon, Minho; Datta, Debkanya; Kim, Kwang-Soo; Chung, Sangmi] Harvard Univ, Sch Med, McLean Hosp, Program Neurosci, Belmont, MA 02178 USA.
[Kim, Tae-Gon; Yao, Ruiqin; Monnell, Travis; Koh, Alice; Moon, Minho; Datta, Debkanya; Kim, Kwang-Soo; Chung, Sangmi] Harvard Univ, Sch Med, McLean Hosp, Harvard Stem Cell Inst, Belmont, MA 02178 USA.
[Cho, Jun-Hyeong; Bolshakov, Vadim Y.] Harvard Univ, Sch Med, McLean Hosp, Cellular Neurobiol Lab,Dept Psychiat, Belmont, MA 02178 USA.
[Vasudevan, Anju; Kumar, Peeyush T.] Harvard Univ, Sch Med, McLean Hosp, Angiogenesis & Brain Dev Lab,Dept Psychiat, Belmont, MA 02178 USA.
RP Kim, KS (reprint author), Harvard Univ, Sch Med, McLean Hosp, 115 Mill St, Belmont, MA 02178 USA.
EM kskim@mclean.harvard.edu; schung@mclean.harvard.edu
FU NIH [NS079977, MH048866, MH087903, NS070577]; Harvard Stem Cell
Institute
FX We thank Dr. Pachnis for kindly providing us with anti-Lhx6 antibodies.
This study was supported by NIH grants (NS079977, MH048866, MH087903,
and NS070577) and Harvard Stem Cell Institute Seed Grant.
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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 1066-5099
EI 1549-4918
J9 STEM CELLS
JI Stem Cells
PD JUL
PY 2014
VL 32
IS 7
BP 1789
EP 1804
DI 10.1002/stem.1704
PG 16
WC Cell & Tissue Engineering; Biotechnology & Applied Microbiology;
Oncology; Cell Biology; Hematology
SC Cell Biology; Biotechnology & Applied Microbiology; Oncology; Hematology
GA AJ6FI
UT WOS:000337785200009
PM 24648391
ER
PT J
AU Levenson, D
AF Levenson, Deborah
TI NF1 PATIENTS' AUTISTIC TRAITS FALL SHORT OF AUTISM SPECTRUM DISORDERS
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
NR 0
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 JUL
PY 2014
VL 164
IS 7
DI 10.1002/ajmg.a.36645
PG 1
WC Genetics & Heredity
SC Genetics & Heredity
GA AJ4HB
UT WOS:000337633300003
ER
PT J
AU Guilherme, RS
Soares, KC
Simioni, M
Vieira, TP
Gil-da-Silva-Lopes, VL
Kim, CA
Brunoni, D
Spinner, NB
Conlin, LK
Christofolini, DM
Kulikowski, LD
Steiner, CE
Melaragno, MI
AF Guilherme, Roberta Santos
Soares, Karina Cunha
Simioni, Milena
Vieira, Tarsis Paiva
Gil-da-Silva-Lopes, Vera Lucia
Kim, Chong Ae
Brunoni, Decio
Spinner, Nancy Bettina
Conlin, Laura Kathleen
Christofolini, Denise Maria
Kulikowski, Leslie Domenici
Steiner, Carlos Eduardo
Melaragno, Maria Isabel
TI Clinical, cytogenetic, and molecular characterization of six patients
with ring chromosomes 22, including one with concomitant 22q11.2
deletion
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE ring chromosome 22; 22q11; 2 deletion; 22q13 deletion; speech delay and
SNP array
ID SUBTELOMERIC SEQUENCES; AUTISTIC SYNDROME; 22Q13.3; FISH; DISORDERS
AB We report here on six patients with a ring chromosome 22 and the range of cytogenetic and phenotypic features presented by them. Genomic analysis was carried out using classical and molecular cytogenetics, MLPA (Multiplex Ligation-dependent Probe Amplification) and genome-wide SNP-array analysis. The ring was found in all patients, but Patient 6 displayed constitutional mosaicism with a normal cell line. Five patients had deletions in the ring chromosome 22, and in four of them the breakpointsunique for each patientcould be identified by genome-wide SNP-array analysis. One patient presented with a 22q11.2 deletion concomitant with the deletion caused by the ring formation. Common phenotypic features included autism, speech delay and seizures, as previously reported for individuals with r(22) and/or 22q13.3 deletions. Investigation of the genes within the deletions revealed multiple genes related to development of the central nervous system, psychomotor delay, severe language impairment, hypotonia, and autistic symptoms. There was no clear correlation between the severity of clinical features and the size of the deleted segment. This study underscores the variability in ring structure and clinical presentation of the r(22) and adds information to the limited literature on this rare disorder. (c) 2014 Wiley Periodicals, Inc.
C1 [Guilherme, Roberta Santos; Brunoni, Decio; Melaragno, Maria Isabel] Univ Fed Sao Paulo, Div Genet, Dept Morphol & Genet, BR-04023900 Sao Paulo, Brazil.
[Soares, Karina Cunha; Simioni, Milena; Vieira, Tarsis Paiva; Gil-da-Silva-Lopes, Vera Lucia; Steiner, Carlos Eduardo] Univ Estadual Campinas UNICAMP, Dept Med Genet, Campinas, SP, Brazil.
[Kim, Chong Ae] Univ Sao Paulo, Dept Pediat, Inst Crianca HC FMUSP, Sao Paulo, Brazil.
[Spinner, Nancy Bettina; Conlin, Laura Kathleen] Univ Penn, Childrens Hosp Philadelphia, Dept Pathol, Philadelphia, PA 19104 USA.
[Spinner, Nancy Bettina; Conlin, Laura Kathleen] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA.
[Christofolini, Denise Maria] ABC, Fac Med, Div Obstet & Gynecol, Sao Paulo, Brazil.
[Kulikowski, Leslie Domenici] Univ Sao Paulo, Dept Pathol, Lab Citogenom, Sao Paulo, Brazil.
RP Guilherme, RS (reprint author), Univ Fed Sao Paulo, Dept Morphol & Genet, Rua Botucatu 740, BR-04023900 Sao Paulo, Brazil.
EM robertaguilherme@hotmail.com
RI Kulikowski, Leslie/F-4524-2012; Vieira, Tarsis/A-2551-2015
OI Kulikowski, Leslie/0000-0003-2236-3956;
FU FAPESP, Brazil [2012/51150-0, 2012/15572-7]
FX Grant sponsor: FAPESP, Brazil; Grant numbers: 2012/51150-0,
2012/15572-7.
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NR 33
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 JUL
PY 2014
VL 164
IS 7
BP 1659
EP 1665
DI 10.1002/ajmg.a.36512
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AJ4HB
UT WOS:000337633300010
PM 24700634
ER
PT J
AU Tinker, J
Carbone, PS
Viskochil, D
Mathiesen, A
Ma, KN
Stevenson, DA
AF Tinker, Jade
Carbone, Paul S.
Viskochil, David
Mathiesen, Amber
Ma, Khe-Ni
Stevenson, David A.
TI Screening children with neurofibromatosis type 1 for autism spectrum
disorder
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE neurofibromatosis type 1; autism spectrum disorders; Modified Checklist
for Autism in Toddlers; Childhood Autism Spectrum Test
ID CAST CHILDHOOD ASPERGER; MODIFIED CHECKLIST; BEHAVIORAL-PHENOTYPE;
TODDLERS; ADOLESCENTS; POPULATION; DIAGNOSIS
AB Autism spectrum disorder (ASD) is reported to be increased in neurofibromatosis type 1 (NF1), but it's unknown if ASD screening tools are sensitive and specific for NF1. This study compared the rate at which children with NF1 screen-positive for two ASD screening tools [Modified Checklist for Autism in Toddlers (M-CHAT) and Childhood Autism Spectrum Test (CAST)] to the screen-positive rate of the general population. A retrospective cross-sectional observational design to investigate the association between children with NF1 and at risk status for ASD was used. Medical records of children between 16 months and 11 years of age seen in an NF Clinic were reviewed for an ASD screening questionnaire. There were no statistically significant differences in the screen-positive rate for ASD in NF1 compared to published controls, but mean CAST scores were higher in NF1. (c) 2014 Wiley Periodicals, Inc.
C1 [Tinker, Jade; Carbone, Paul S.; Viskochil, David; Mathiesen, Amber; Ma, Khe-Ni; Stevenson, David A.] Univ Utah, Dept Pediat, Salt Lake City, UT 84132 USA.
RP Stevenson, DA (reprint author), Univ Utah, Div Med Genet, 2C412 SOM, Salt Lake City, UT 84132 USA.
EM david.stevenson@hsc.utah.edu
FU University of Utah Genetic Counseling Master's Program; Thrasher
Research Fund; Department of Defense [W81XWH-11-1-0250]
FX Grant sponsor: University of Utah Genetic Counseling Master's Program;
Grant sponsor: Thrasher Research Fund; Grant sponsor: Department of
Defense; Grant number: DOD Award W81XWH-11-1-0250.
CR Adviento B, 2013, J MED GENET, DOI [10.1136/jmedgeneti-2013-101951, DOI 10.1136/JMEDGENETI-2013-101951]
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 33
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 JUL
PY 2014
VL 164
IS 7
BP 1706
EP 1712
DI 10.1002/ajmg.a.36549
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AJ4HB
UT WOS:000337633300016
PM 24715629
ER
PT J
AU Andersen, EF
Baldwin, EE
Ellingwood, S
Smith, R
Lamb, AN
AF Andersen, Erica F.
Baldwin, Erin E.
Ellingwood, Sara
Smith, Rosemarie
Lamb, Allen N.
TI Xq28 duplication overlapping the int22h-1/int22h-2 region and including
RAB39B and CLIC2 in a family with intellectual and developmental
disability
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE Xq28 duplication; Xp22.33 deletion; int22h; RAB39B; CLIC2
ID COPY NUMBER VARIANTS; MENTAL-RETARDATION; AUTISM; GENE; MUTATIONS;
PHENOTYPE; DELETION; GTPASES; EXOME; TMLHE
AB Duplications involving terminal Xq28 are a known cause of intellectual disability (ID) in males and in females with unfavorable X-inactivation patterns. Within Xq28, functional disomy of MECP2 causes a severe ID syndrome, however the dosage sensitivity of other Xq28 duplicated genes is less certain. Duplications involving the int22h-1/int22h-2 LCR-flanked region in distal Xq28 have recently been linked to a novel ID-associated phenotype. While evidence for the dosage sensitivity of this region is emerging, the phenotypic contribution of individual genes within the int22h-1/int22h-2-flanked region has yet to be determined. We report a familial case of a novel 774kb Xq28-qter duplication, detected by cytogenomic microarray analysis, that partially overlaps the int22h-1/int22h-2-flanked region. This duplication and a 570kb Xpter-p22.33 loss within the pseudoautosomal region were identified in three siblings, one female and two males, who presented with developmental delays/intellectual disability, mild dysmorphic features and short stature. Although unconfirmed, these results are suggestive of maternal inheritance of a recombinant X. We compare our clinical findings to patients with int22h-1/int22h-2-mediated duplications and discuss the potential pathogenicity of genes within the duplicated region, including those within the shared region of overlap, RAB39B and CLIC2. (c) 2014 Wiley Periodicals, Inc.
C1 [Andersen, Erica F.; Baldwin, Erin E.; Lamb, Allen N.] ARUP Labs, Salt Lake City, UT 84108 USA.
[Andersen, Erica F.; Lamb, Allen N.] Univ Utah, Dept Pathol, Salt Lake City, UT USA.
[Ellingwood, Sara; Smith, Rosemarie] Maine Med Ctr, Div Genet, Dept Pediat, Portland, ME 04102 USA.
RP Andersen, EF (reprint author), ARUP Labs, 500 Chipeta Way, Salt Lake City, UT 84108 USA.
EM erica.f.andersen@aruplab.com
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NR 21
TC 1
Z9 2
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 JUL
PY 2014
VL 164
IS 7
BP 1795
EP 1801
DI 10.1002/ajmg.a.36524
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AJ4HB
UT WOS:000337633300028
PM 24700761
ER
PT J
AU Schwartzberg, ET
Silverman, MJ
AF Schwartzberg, Edward T.
Silverman, Michael J.
TI Music therapy song repertoire for children with autism spectrum
disorder: A descriptive analysis by treatment areas, song types, and
presentation styles
SO ARTS IN PSYCHOTHERAPY
LA English
DT Article
DE Autism; Music therapy; Music; Songs; Repertoire
ID SCERTS MODEL; RESPONSIVENESS; INTERVENTIONS; BEHAVIORS
AB The purpose of this descriptive study was to identify the song types, presentation styles, and song repertoire utilized within specific treatment areas with children with autism spectrum disorder (ASD). The researchers sent surveys to 257 music therapists who worked with children between the ages of birth through 19 years diagnosed with ASD. Ninety-one music therapists participated in the survey, resulting in a 35% return rate. The number of participants responding to each question ranged from 72 to 91. Overall, the majority of respondents indicated they utilized more pre-existing songs, followed by original compositions and lyric replacement (piggyback) songs. However, when asked questions about song types used to address specific treatment areas, respondents indicated they utilized live original compositions across all treatment domains more frequently than live pre-existing and live lyric replacement songs. Developing protocols to choose song types may be helpful for the acceptance of music therapy as an evidence-based treatment modality for children with ASD. Future research is warranted to determine the type of songs most conducive to facilitating improvement in specific treatment areas. Implications for clinical practice, educational preparation, and limitations of this study are provided. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Schwartzberg, Edward T.; Silverman, Michael J.] Univ Minnesota, Minneapolis, MN 55455 USA.
RP Schwartzberg, ET (reprint author), Univ Minnesota, Sch Mus, 100 Ferguson Hall,2106 Fourth St South, Minneapolis, MN 55455 USA.
EM schwa155@umn.edu
CR American Music Therapy Association, 2013, WORKF AN
Autism Society, 2013, AUT DIAGN
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NR 33
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0197-4556
EI 1873-5878
J9 ART PSYCHOTHER
JI Arts Psychother.
PD JUL
PY 2014
VL 41
IS 3
BP 240
EP 249
DI 10.1016/j.aip.2014.03.007
PG 10
WC Psychology, Clinical; Rehabilitation
SC Psychology; Rehabilitation
GA AJ4QB
UT WOS:000337659800002
ER
PT J
AU Mandell, D
Lecavalier, L
AF Mandell, David
Lecavalier, Luc
TI Should we believe the Centers for Disease Control and Prevention's
autism spectrum disorder prevalence estimates?
SO AUTISM
LA English
DT Editorial Material
ID IDENTIFICATION; SURVEILLANCE; POPULATION; STATES
RI Mandell, David/H-2730-2012
OI Mandell, David/0000-0001-8240-820X
CR Bertrand J, 2001, PEDIATRICS, V108, P1155, DOI 10.1542/peds.108.5.1155
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CDC, 2012, MMWR SURVEILL SUMM, V61, P1
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Parks SE, 2014, MMWR SURVEILL SUMM, V63, P1
Rodier P, 2011, AUTISM SPECTRUM DISO, P863
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Yeargin-Allsopp M, 2003, JAMA-J AM MED ASSOC, V289, P49, DOI 10.1001/jama.289.1.49
NR 16
TC 3
Z9 3
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 JUL
PY 2014
VL 18
IS 5
BP 482
EP 484
DI 10.1177/1362361314538131
PG 3
WC Psychology, Developmental
SC Psychology
GA AJ3JP
UT WOS:000337562700001
PM 26005737
ER
PT J
AU Chandler, F
Dissanayake, C
AF Chandler, Felicity
Dissanayake, Cheryl
TI An investigation of the security of caregiver attachment during middle
childhood in children with high-unctioning autistic disorder
SO AUTISM
LA English
DT Article
DE attachment; high-functioning autism; security
ID PERVASIVE DEVELOPMENTAL DISORDERS; PEER ATTACHMENT; YOUNG-CHILDREN;
MOTHER; PARENT; ASSOCIATIONS; METAANALYSIS; ADOLESCENCE; PERCEPTIONS;
BEHAVIORS
AB Previous research has investigated caregiver attachment relationships in children with autism during early childhood, with few differences found from matched control groups. However, little is known of this relationship during middle childhood (ages 8-12 years). In this study, the aim was to establish whether there are differences in the security of attachment in children with high-functioning autism compared to typically developing children. A secondary aim was to establish whether caregivers' perceptions of their child's attachment to them accorded with the children's own reports. Twenty-one children with high-functioning autism and 17 typically developing children were administered the Kerns Security Scale and the Inventory of Parent and Peer Attachment-Revised, and caregivers completed the same questionnaires from the viewpoint of their child. There were no differences between the groups in the children's and parents' reports of attachment security. Parents' and children's reports were moderately correlated on the Kerns Security Scale but were not correlated on the Inventory of Parent and Peer Attachment-Revised. The results indicate that levels of attachment security in children with high-functioning autism are not different from those in typically developing children.
C1 [Chandler, Felicity; Dissanayake, Cheryl] La Trobe Univ, Melbourne, Vic 3086, Australia.
RP Dissanayake, C (reprint author), La Trobe Univ, Sch Psychol Sci, Olga Tennison Autism Res Ctr, Melbourne, Vic 3086, Australia.
EM c.dissanayake@latrobe.edu.au
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NR 53
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 JUL
PY 2014
VL 18
IS 5
BP 485
EP 492
DI 10.1177/1362361313486205
PG 8
WC Psychology, Developmental
SC Psychology
GA AJ3JP
UT WOS:000337562700002
PM 24072664
ER
PT J
AU Mazefsky, CA
Schreiber, DR
Olino, TM
Minshew, NJ
AF Mazefsky, Carla A.
Schreiber, Dana R.
Olino, Thomas M.
Minshew, Nancy J.
TI The association between emotional and behavioral problems and
gastrointestinal symptoms among children with high-functioning autism
SO AUTISM
LA English
DT Article
DE abdominal pain; autism spectrum disorder; behavior; Child Behavior
Checklist; gastrointestinal
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; YOUNG-PEOPLE;
PREVALENCE; INDIVIDUALS; ADOLESCENTS; ASDS
AB This study investigated the association between gastrointestinal symptoms and a broad set of emotional and behavioral concerns in 95 children with high-functioning autism and IQ scores >= 80. Gastrointestinal symptoms were assessed via the Autism Treatment Network's Gastrointestinal Symptom Inventory, and data were gathered on autism symptom severity, adaptive behavior, and multiple internalizing and externalizing problems. The majority (61%) of children had at least one reported gastrointestinal symptom. Emotional and behavioral problems were also common but with a high degree of variability. Children with and without gastrointestinal problems did not differ in autism symptom severity, adaptive behavior, or total internalizing or externalizing problem scores. However, participants with gastrointestinal problems had significantly higher levels of affective problems. This finding is consistent with a small body of research noting a relationship between gastrointestinal problems, irritability, and mood problems in autism spectrum disorder. More research to identify the mechanisms underlying this relationship in autism spectrum disorder is warranted. Future research should include a medical assessment of gastrointestinal concerns, longitudinal design, and participants with a range of autism spectrum disorder severity in order to clarify the directionality of this relationship and to identify factors that may impact heterogeneity in the behavioral manifestation of gastrointestinal concerns.
C1 [Mazefsky, Carla A.; Schreiber, Dana R.; Olino, Thomas M.; Minshew, Nancy J.] Univ Pittsburgh, Pittsburgh, PA 15213 USA.
RP Mazefsky, CA (reprint author), Univ Pittsburgh, Dept Psychiat, 3811 OHara St,Webster Hall,Suite 300, Pittsburgh, PA 15213 USA.
EM mazefskyca@upmc.edu
CR Achenbach TM, 2001, MANUAL ASEBA SCH AGE
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NR 28
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 JUL
PY 2014
VL 18
IS 5
BP 493
EP 501
DI 10.1177/1362361313485164
PG 9
WC Psychology, Developmental
SC Psychology
GA AJ3JP
UT WOS:000337562700003
PM 24104507
ER
PT J
AU McStay, RL
Dissanayake, C
Scheeren, A
Koot, HM
Begeer, S
AF McStay, Rebecca L.
Dissanayake, Cheryl
Scheeren, Anke
Koot, Hans M.
Begeer, Sander
TI Parenting stress and autism: The role of age, autism severity, quality
of life and problem behaviour of children and adolescents with autism
SO AUTISM
LA English
DT Article
DE age; autism; autism severity; parenting stress; problem behaviour;
quality of life
ID DOUBLE ABCX MODEL; SPECTRUM DISORDERS; INTELLECTUAL DISABILITY;
PRESCHOOL-CHILDREN; SYMPTOM SEVERITY; MENTAL-HEALTH; CHALLENGING
BEHAVIORS; SOCIAL SUPPORT; RISK MARKERS; MOTHERS
AB While stress is a common experience for parents caring for a child with a developmental disability, current measures fail to distinguish between general stress in parents and the demands of parenting and perceptions of parenting skills (parenting stress). This study examined differences in 'parenting stress' reported by parents of children with autism and typically developing children. This study examined the role of child characteristics (age, autism severity, child quality of life and problem behaviour) on parenting stress in 150 parents of cognitively able children and adolescents with autism. The results revealed that child hyperactivity was the only factor significantly related to parenting stress in parents of children with autism, overruling measures of autism severity and child quality of life. This finding indicates the significant influence of problematic behaviours on parenting demands and perceptions of parenting skills in parents of children with autism, over other child characteristics conceived as within the parent's control. Study implications for future research are discussed.
C1 [McStay, Rebecca L.; Dissanayake, Cheryl] La Trobe Univ, Bundoora, Vic 3086, Australia.
[Scheeren, Anke; Koot, Hans M.; Begeer, Sander] Vrije Univ Amsterdam, Amsterdam, Netherlands.
[Begeer, Sander] Univ Sydney, Sydney, NSW 2006, Australia.
RP Begeer, S (reprint author), Univ Sydney, Sch Psychol, Sydney, NSW 2006, Australia.
EM sander.begeer@sydney.edu.au
CR Abidin R. R., 1983, PARENTING STRESS IND
Abidin RR, 1995, PARENTING STRESS IND
American Psychiatric Association, 2013, DIAGN STAT MAN MENT, P461
American Psychiatric Association (APA), 1994, DIAGN STAT MAN MENT, V4th
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NR 59
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 JUL
PY 2014
VL 18
IS 5
BP 502
EP 510
DI 10.1177/1362361313485163
PG 9
WC Psychology, Developmental
SC Psychology
GA AJ3JP
UT WOS:000337562700004
PM 24104515
ER
PT J
AU Patterson, SY
Elder, L
Gulsrud, A
Kasari, C
AF Patterson, Stephanie Y.
Elder, Lauren
Gulsrud, Amanda
Kasari, Connie
TI The association between parental interaction style and children's joint
engagement in families with toddlers with autism
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; joint engagement; parental directiveness;
parental responsivity; social initiations; toddlers
ID ATTENTION
AB Purpose: This study examines the relationship between parental interaction style (responsive vs directive) and child-initiated joint engagement within caregiver-child interactions with toddlers diagnosed with autism spectrum disorders.
Method: Videotaped interactions of 85 toddler-caregiver dyads were coded for child engagement and both parental responsiveness and directiveness.
Results: Altogether, children spent less than one-third of the interaction jointly engaged. After controlling for child characteristics, parental style was associated with the initiator (child or parent) of joint engagement. Specifically, responsiveness predicted total time in child-initiated joint engagement, while directiveness predicted total time in parent-initiated joint engagement. Children's social behaviours were associated with child-initiated joint engagement.
Discussion: Social initiations are a key target for children with autism spectrum disorders. Results demonstrate that child initiations and global social behaviour ratings are associated with parental responsivity. Responsivity may be a critical factor to facilitate children's initiations.
C1 [Patterson, Stephanie Y.] Univ Calif Los Angeles, Los Angeles, CA 90095 USA.
[Elder, Lauren] Autism Speaks, New York, NY USA.
[Gulsrud, Amanda; Kasari, Connie] Univ Calif Los Angeles, Ctr Autism Res & Treatment, Los Angeles, CA 90095 USA.
RP Patterson, SY (reprint author), Univ Calif Los Angeles, Grad Sch Educ & Informat Studies, Moore Hall,2027,Box 951521, Los Angeles, CA 90095 USA.
EM sypatterson@ucla.edu
CR Adamson LB, 2004, CHILD DEV, V75, P1171, DOI 10.1111/j.1467-8624.2004.00732.x
Adamson LB, 2001, J APPL DEV PSYCHOL, V22, P439, DOI 10.1016/S0193-3973(01)00089-2
Adamson LB, 2009, J AUTISM DEV DISORD, V39, P84, DOI 10.1007/s10803-008-0601-7
Fey ME, 2006, J SPEECH LANG HEAR R, V49, P526, DOI 10.1044/1092-4388(2006/039)
Kasari C, 2012, J AM ACAD CHILD PSY, V51, P487, DOI 10.1016/j.jaac.2012.02.019
Kasari C, 2010, J AUTISM DEV DISORD, V40, P1045, DOI 10.1007/s10803-010-0955-5
Lord C., 1999, AUTISM DIAGNOSTIC OB
Mahoney G, 2003, TOPICS EARLY CHILD S, V23, P74, DOI DOI 10.1177/02711214030230020301
Mullen E, 1995, MULLEN SCALES EARLY
Ruble LA, 2007, J AUTISM DEV DISORD, V37, P1457, DOI 10.1007/s10803-006-0222-y
Tomasello M., 2001, LANG ACQUIS, P133
Warren SF, 2007, MENT RETARD DEV D R, V13, P330, DOI 10.1002/mrdd.20177
NR 12
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 JUL
PY 2014
VL 18
IS 5
BP 511
EP 518
DI 10.1177/1362361313483595
PG 8
WC Psychology, Developmental
SC Psychology
GA AJ3JP
UT WOS:000337562700005
PM 24104518
ER
PT J
AU Freuler, AC
Baranek, GT
Tashjian, C
Watson, LR
Crais, ER
Turner-Brown, LM
AF Freuler, Ashley C.
Baranek, Grace T.
Tashjian, Christene
Watson, Linda R.
Crais, Elizabeth R.
Turner-Brown, Lauren M.
TI Parent reflections of experiences of participating in a randomized
controlled trial of a behavioral intervention for infants at risk of
autism spectrum disorders
SO AUTISM
LA English
DT Article
DE autism; early intervention; parent experience; qualitative
ID CHILDREN; STRESS; DIAGNOSIS; MOTHERS
AB Background: Despite the mounting evidence of efficacy of early intervention for children with autism spectrum disorders, there is little research that considers the various perceptions and resources with which parents respond to the pressures and opportunities associated with participation in early intervention. Research is particularly lacking surrounding experiences of parents with infants who are at risk of autism spectrum disorders but do not (yet) have a diagnosed condition.
Objectives: This qualitative study aimed to explore the experiences of caregivers following their participation in a randomized controlled trial of Adapted Responsive Teaching, a parent-infant relationship-focused intervention for infants at risk of autism spectrum disorders in a community sample. Parents were randomized into either the treatment group, in which they participated in the Adapted Responsive Teaching intervention, or the community services group, in which they were provided with information regarding local early intervention services and were encouraged, but not required to, seek community services as part of their inclusion in the randomized controlled trial.
Methods: Semistructured interviews were conducted with families following the completion of the randomized controlled trial. Participants consisted of 13 mothers and 4 fathers. Five dyads were interviewed together for a total of 14 families. Child ages ranged from 39 to 46 months at the time of interview. Analysis was conducted on 14 interviews from 10 families who were randomized into the treatment group and 4 families randomized into the community services group. Analysis was informed by a thematic analysis approach, which involved a systematic process of coding and theme identification both across and within groups.
Results: Themes that emerged across groups included Working against all odds, Value of the personal relationship, Getting the ball rolling, and Getting dad on board. One broad theme represented the data within the groups: Win-win (Adapted Responsive Teaching group) and Navigating amidst ambiguity (community services group).
Conclusions: This study illuminates the personal experiences and contextual influences affecting families who are participating in the randomized controlled trial through early identification of "risk" status for autism spectrum disorders in their infants. Insights gained from these interviews may serve to refine and enhance intervention models and to enhance early intervention services for families.
C1 [Freuler, Ashley C.; Baranek, Grace T.; Tashjian, Christene; Watson, Linda R.; Crais, Elizabeth R.; Turner-Brown, Lauren M.] Univ N Carolina, Chapel Hill, NC 27599 USA.
RP Freuler, AC (reprint author), Univ N Carolina, Div Occupat Sci & Occupat Therapy, Dept Allied Hlth Sci, Bondurant Hall,CB 7122, Chapel Hill, NC 27599 USA.
EM afreuler@med.unc.edu
CR Baker-Ericzen MJ, 2005, RES PRACT PERS SEV D, V30, P194, DOI 10.2511/rpsd.30.4.194
Baranek GT, 2003, 1 YEAR INVENTORY FYI
Bishop SL, 2007, AM J MENT RETARD, V112, P450, DOI 10.1352/0895-8017(2007)112[450:POPNII]2.0.CO;2
Braun V., 2006, QUALITATIVE RES PSYC, V3, P77, DOI DOI 10.1191/1478088706QP063OA
Dawson G, 2010, PEDIATRICS, V125, pE17, DOI 10.1542/peds.2009-0958
DeGrace BW, 2004, AM J OCCUP THER, V58, P543
Dumville JC, 2006, CONTEMP CLIN TRIALS, V27, P1, DOI 10.1016/j.cct.2005.08.003
Dunn ME, 2001, COMMUNITY MENT HLT J, V37, P39, DOI 10.1023/A:1026592305436
Estes A, 2009, AUTISM, V13, P375, DOI 10.1177/1362361309105658
Hsieh HF, 2005, QUAL HEALTH RES, V15, P1277, DOI 10.1177/1049732305276687
Hutton A. M., 2005, FOCUS AUTISM OTHER D, V20, P180, DOI [10.1177/10883576050200030601, DOI 10.1177/10883576050200030601]
Johnson CP, 2007, PEDIATRICS, V120, P1183, DOI 10.1542/peds.2007-2361
Liptak Gregory S, 2006, J Pediatr Health Care, V20, P245, DOI 10.1016/j.pedhc.2005.12.008
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Mansell W, 2004, AUTISM, V8, P387, DOI 10.1177/1362361304045213
Morse J. M., 1995, QUALITATIVE RES METH, V2nd
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Osborne LA, 2009, EXCEPT CHILDREN, V76, P54
Pierce K, 2011, J PEDIATR-US, V159, P458, DOI 10.1016/j.jpeds.2011.02.036
Reznick JS, 2007, J AUTISM DEV DISORD, V37, P1691, DOI 10.1007/s10803-006-0303-y
Turner-Brown LM, 2013, AUTISM, V17, P527, DOI 10.1177/1362361312439633
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Woodgate RL, 2008, QUAL HEALTH RES, V18, P1075, DOI 10.1177/1049732308320112
Zhang Y., 2009, APPL SOCIAL RES METH
NR 25
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 JUL
PY 2014
VL 18
IS 5
BP 519
EP 528
DI 10.1177/1362361313483928
PG 10
WC Psychology, Developmental
SC Psychology
GA AJ3JP
UT WOS:000337562700006
PM 24104508
ER
PT J
AU Engelhardt, CR
Mazurek, MO
AF Engelhardt, Christopher R.
Mazurek, Micah O.
TI Video game access, parental rules, and problem behavior: A study of boys
with autism spectrum disorder
SO AUTISM
LA English
DT Article
DE autism; in-room media; oppositional behavior; video game rules; video
games
ID MEDIA USE; CHILDREN; TELEVISION; ADOLESCENTS; BEDROOM; OVERWEIGHT;
HABITS; RISK; TIME; AGE
AB Environmental correlates of problem behavior among individuals with autism spectrum disorder remain relatively understudied. The current study examined the contribution of in-room (i.e. bedroom) access to a video game console as one potential correlate of problem behavior among a sample of 169 boys with autism spectrum disorder (ranging from 8 to 18 years of age). Parents of these children reported on (1) whether they had specific rules regulating their child's video game use, (2) whether their child had in-room access to a variety of screen-based media devices (television, computer, and video game console), and (3) their child's oppositional behaviors. Multivariate regression models showed that in-room access to a video game console predicted oppositional behavior while controlling for in-room access to other media devices (computer and television) and relevant variables (e. g. average number of video game hours played per day). Additionally, the association between in-room access to a video game console and oppositional behavior was particularly large when parents reported no rules on their child's video game use. The current findings indicate that both access and parental rules regarding video games warrant future experimental and longitudinal research as they relate to problem behavior in boys with autism spectrum disorder.
C1 [Engelhardt, Christopher R.; Mazurek, Micah O.] Univ Missouri, Columbia, MO 65203 USA.
RP Engelhardt, CR (reprint author), Univ Missouri, Dept Psychol Sci, 210 McAlester Hall, Columbia, MO 65203 USA.
EM cre8f9@mail.missouri.edu
CR Adachi-Mejia AM, 2007, INT J OBESITY, V31, P644, DOI 10.1038/sj.ijo.0803455
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American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th
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Gadow KD, 2005, AUTISM, V9, P392, DOI 10.1177/1362361305056079
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Gentile DA, 2004, J ADOLESCENCE, V27, P5, DOI 10.1016/j.adolescence.2003.10.002
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Roberts D., 2005, GENERATION M MEDIA L
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NR 40
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 JUL
PY 2014
VL 18
IS 5
BP 529
EP 537
DI 10.1177/1362361313482053
PG 9
WC Psychology, Developmental
SC Psychology
GA AJ3JP
UT WOS:000337562700007
PM 24104510
ER
PT J
AU O'Nions, E
Viding, E
Greven, CU
Ronald, A
Happe, F
AF O'Nions, Elizabeth
Viding, Essi
Greven, Corina U.
Ronald, Angelica
Happe, Francesca
TI Pathological demand avoidance: Exploring the behavioural profile
SO AUTISM
LA English
DT Article
DE atypical autism; autism spectrum disorder; conduct problems and
callous-unemotional traits; pathological demand avoidance; phenotype
ID CONDUCT PROBLEMS; CHILDREN; DISORDERS; CHILDHOOD; AUTISM;
PSYCHOPATHOLOGY; ADHD; TWIN
AB 'Pathological Demand Avoidance' is a term increasingly used by practitioners in the United Kingdom. It was coined to describe a profile of obsessive resistance to everyday demands and requests, with a tendency to resort to 'socially manipulative' behaviour, including outrageous or embarrassing acts. Pathological demand avoidance is thought to share aspects of social impairment with autism spectrum disorders, but autism spectrum disorder-appropriate strategies, such as routine and repetition, are described as unhelpful. Outrageous acts and lack of concern for their effects draw parallels with conduct problems and callous-unemotional traits. However, reward-based techniques, effective with conduct problems and callous-unemotional traits, seem not to work in pathological demand avoidance. Despite increasing interest and controversy over the pathological demand avoidance label, there is only one published study to date. We present the first systematic comparison of the behavioural profile of children receiving the term pathological demand avoidance (N = 25) to children with autism spectrum disorders (N = 39) or conduct problems and callous-unemotional traits (N = 28), using parent-report indices of psychopathology. The pathological demand avoidance group displayed comparable levels of autistic traits and peer problems to the autism spectrum disorders group and anti-social traits approaching those seen in the conduct problems and callous-unemotional traits group. Emotional symptoms in pathological demand avoidance exceeded both comparison groups. Findings highlight the extreme behavioural impairment associated with pathological demand avoidance and the need to explore whether behavioural overlap reflects a similar neurocognitive basis to existing groups.
C1 [O'Nions, Elizabeth; Viding, Essi; Greven, Corina U.; Happe, Francesca] Kings Coll London, London SE5 8AF, England.
[Viding, Essi] UCL, London WC1E 6BT, England.
[Greven, Corina U.] Radboud Univ Nijmegen, Med Ctr, NL-6525 ED Nijmegen, Netherlands.
[Ronald, Angelica] Birkbeck, London, England.
RP O'Nions, E (reprint author), Kings Coll London, MRC Social Genet & Dev Psychiat Ctr, Inst Psychiat, Denmark Hill, London SE5 8AF, England.
EM elizabeth.onions@kcl.ac.uk
RI Ronald, Angelica/C-7812-2009
OI Ronald, Angelica/0000-0002-9576-2176
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
American Psychiatric Association, 1980, DIAGN STAT MAN MENT
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World Health Organization, 1992, INT CLASS DIS
NR 29
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 JUL
PY 2014
VL 18
IS 5
BP 538
EP 544
DI 10.1177/1362361313481861
PG 7
WC Psychology, Developmental
SC Psychology
GA AJ3JP
UT WOS:000337562700008
PM 24104509
ER
PT J
AU Parr, AD
Hunter, ST
AF Parr, Alissa D.
Hunter, Samuel T.
TI Enhancing work outcomes of employees with autism spectrum disorder
through leadership: Leadership for employees with autism spectrum
disorder
SO AUTISM
LA English
DT Article
DE autism; job attitudes; leadership; performance
ID TRANSFORMATIONAL LEADERSHIP; CHARISMATIC LEADERSHIP; TRANSACTIONAL
LEADERSHIP; TASK PREFERENCES; ADULTS; EMPLOYMENT; CONSEQUENCES;
ORGANIZATION; METAANALYSIS; ANTECEDENTS
AB The focus of this study was to identify leader behaviors that elicit successful engagement of employees with autism spectrum disorder, a population that is powerfully emerging into the workplace. The ultimate goal was to improve the quality of life of employees with autism spectrum disorder by facilitating an environment leading to their success. Through a series of interviews with 54 employees with autism spectrum disorder, results indicated that leadership has a great effect on employee attitudes and performance, and that the notion of leadership preferences is quite complex culminating in several important behaviors rather than one superior leadership theory. Implications and future research directions are discussed.
C1 [Parr, Alissa D.; Hunter, Samuel T.] Penn State Univ, University Pk, PA 16802 USA.
RP Parr, AD (reprint author), Penn State Univ, 506 Keller Bldg, University Pk, PA 16802 USA.
EM aparr@psu.edu
CR ALLEN NJ, 1990, J OCCUP PSYCHOL, V63, P1
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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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 JUL
PY 2014
VL 18
IS 5
BP 545
EP 554
DI 10.1177/1362361313483020
PG 10
WC Psychology, Developmental
SC Psychology
GA AJ3JP
UT WOS:000337562700009
PM 23886575
ER
PT J
AU Swanson, AR
Warren, ZE
Stone, WL
Vehorn, AC
Dohrmann, E
Humberd, Q
AF Swanson, Amy R.
Warren, Zachary E.
Stone, Wendy L.
Vehorn, Alison C.
Dohrmann, Elizabeth
Humberd, Quentin
TI The diagnosis of autism in community pediatric settings: Does advanced
training facilitate practice change?
SO AUTISM
LA English
DT Article
DE autism spectrum disorders; diagnosis; screening
ID SPECTRUM DISORDERS; MODIFIED CHECKLIST; CHILDREN; TODDLERS; STAT; AGE
AB The increased prevalence of autism spectrum disorder and documented benefits of early intensive intervention have created a need for flexible systems for determining eligibility for autism-specific services. This study evaluated the effectiveness of a training program designed to enhance autism spectrum disorder identification and assessment within community pediatric settings across the state. Twenty-seven pediatric providers participated in regional trainings across a 3.5-year period. Trainings provided clinicians with strategies for conducting relatively brief within-practice interactive assessments following positive autism spectrum disorder screenings. Program evaluation was measured approximately 1.5 years following training through (a) clinician self-reports of practice change and (b) blind diagnostic verification of a subset of children assessed. Pediatric providers participating in the training reported significant changes in screening and consultation practices following training, with a reported 85% increase in diagnostic identification of children with autism spectrum disorder within their own practice setting. In addition, substantial agreement (86%-93%) was found between pediatrician diagnostic judgments and independent, comprehensive blinded diagnostic evaluations. Collaborative training methods that allow autism spectrum disorder identification within broader community pediatric settings may help translate enhanced screening initiatives into more effective and efficient diagnosis and treatment.
C1 [Swanson, Amy R.; Warren, Zachary E.; Vehorn, Alison C.; Dohrmann, Elizabeth] Vanderbilt Univ, Nashville, TN 37203 USA.
[Stone, Wendy L.] Univ Washington, Seattle, WA 98195 USA.
[Humberd, Quentin] Blanchfield Army Community Hosp, Fort Campbell, KY 42223 USA.
RP Warren, ZE (reprint author), Vanderbilt Univ, Dept Pediat Psychiat & Special Educ, PMB 74,230 Appleton Pl, Nashville, TN 37203 USA.
EM zachary.warren@vanderbilt.edu
CR Al-Qabandi M, 2011, PEDIATRICS, V128, P211
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Bailey K, 2008, AUTISM SPECTRUM DISO, P300
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Young Margaret B., 2012, Morbidity and Mortality Weekly Report, V61, P1
Turner LM, 2007, J CHILD PSYCHOL PSYC, V48, P793, DOI 10.1111/j.1469-7610.2007.01744.x
Warren Z, 2009, J DEV BEHAV PEDIATR, V30, P442, DOI 10.1097/DBP.0b013e3181ba0e4e
Warren ZE, 2011, PEDIATRICS, V127, P1303
Warren ZE, 2011, AUTISM SPECTRUM DISO, P1271
Zwaigenbaum L, 2006, SOCIAL COMMUNICATION, P88
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 JUL
PY 2014
VL 18
IS 5
BP 555
EP 561
DI 10.1177/1362361313481507
PG 7
WC Psychology, Developmental
SC Psychology
GA AJ3JP
UT WOS:000337562700010
PM 23847130
ER
PT J
AU Anderson, KA
Shattuck, PT
Cooper, BP
Roux, AM
Wagner, M
AF Anderson, Kristy A.
Shattuck, Paul T.
Cooper, Benjamin P.
Roux, Anne M.
Wagner, Mary
TI Prevalence and correlates of postsecondary residential status among
young adults with an autism spectrum disorder
SO AUTISM
LA English
DT Article
DE adult; autism; residence; transition
ID EMERGING ADULTHOOD; UNITED-STATES; TRANSITION; CHILDREN; HOME;
POPULATION; PATTERNS; SCHOOL; YOUTH; LIFE
AB This study examined the prevalence and correlates of three living arrangements (with a parent or guardian, independently or with a roommate, or in a supervised setting) among a nationally representative sample of postsecondary young adults with an autism spectrum disorder. We assessed living arrangements since leaving high school. Compared with young adults with other disability types (learning disabilities, intellectual disabilities, or emotional disturbances), those with an autism spectrum disorder were more likely to have lived with a parent or guardian and least likely ever to have lived independently since leaving high school. Members of the autism spectrum disorder group were less likely to have ever lived elsewhere and more likely to live under supervision since leaving high school compared to persons with emotional disturbances and learning disabilities. Group differences persisted after controlling for functional ability and demographic characteristics. Correlates of residential independence included being White, having better conversation ability and functional skills, and having a higher household income. Further research is needed to investigate how these residential trends relate to the quality of life among families and young adults.
C1 [Anderson, Kristy A.] Univ Wisconsin, Madison, WI 53705 USA.
[Anderson, Kristy A.; Shattuck, Paul T.; Cooper, Benjamin P.; Roux, Anne M.] Washington Univ, St Louis, MO USA.
[Wagner, Mary] SRI Int, Menlo Pk, CA USA.
RP Anderson, KA (reprint author), Univ Wisconsin, IDDRC Waisman Ctr, 1500 Highland Ave, Madison, WI 53705 USA.
EM kaanderson8@wisc.edu
CR Abbeduto L, 2004, AM J MENT RETARD, V109, P237, DOI 10.1352/0895-8017(2004)109<237:PWACIM>2.0.CO;2
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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Autism and Developmental Disabilities Monitoring Network (ADDM), 2012, MMWR SURVEILL SUMM, V61, P1
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Centers for Disease Control and Prevention (CDC), 2012, COMM REP AUT DEV DIS
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Yeargin-Allsopp M, 2003, JAMA-J AM MED ASSOC, V289, P49, DOI 10.1001/jama.289.1.49
NR 40
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 JUL
PY 2014
VL 18
IS 5
BP 562
EP 570
DI 10.1177/1362361313481860
PG 9
WC Psychology, Developmental
SC Psychology
GA AJ3JP
UT WOS:000337562700011
PM 23996904
ER
PT J
AU Frazier, TW
Youngstrom, EA
Embacher, R
Hardan, AY
Constantino, JN
Law, P
Findling, RL
Eng, C
AF Frazier, Thomas W.
Youngstrom, Eric A.
Embacher, Rebecca
Hardan, Antonio Y.
Constantino, John N.
Law, Paul
Findling, Robert L.
Eng, Charis
TI Demographic and clinical correlates of autism symptom domains and autism
spectrum diagnosis
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; autism symptoms; diagnosis; prediction
ID SOCIAL RESPONSIVENESS SCALE; GENERAL-POPULATION; CHILDREN; TRAITS;
DISORDERS; VALIDATION; VALIDITY; CRITERIA; TWIN; AGE
AB Demographic and clinical factors may influence assessment of autism symptoms. This study evaluated these correlates and also examined whether social communication and interaction and restricted/repetitive behavior provided unique prediction of autism spectrum disorder diagnosis. We analyzed data from 7352 siblings included in the Interactive Autism Network registry. Social communication and interaction and restricted/repetitive behavior symptoms were obtained using caregiver-reports on the Social Responsiveness Scale. Demographic and clinical correlates were covariates in regression models predicting social communication and interaction and restricted/repetitive behavior symptoms. Logistic regression and receiver operating characteristic curve analyses evaluated the incremental validity of social communication and interaction and restricted/repetitive behavior domains over and above global autism symptoms. Autism spectrum disorder diagnosis was the strongest correlate of caregiver-reported social communication and interaction and restricted/repetitive behavior symptoms. The presence of comorbid diagnoses also increased symptom levels. Social communication and interaction and restricted/repetitive behavior symptoms provided significant, but modest, incremental validity in predicting diagnosis beyond global autism symptoms. These findings suggest that autism spectrum disorder diagnosis is by far the largest determinant of quantitatively measured autism symptoms. Externalizing (attention deficit hyperactivity disorder) and internalizing (anxiety) behavior, low cognitive ability, and demographic factors may confound caregiver-report of autism symptoms, potentially necessitating a continuous norming approach to the revision of symptom measures. Social communication and interaction and restricted/repetitive behavior symptoms may provide incremental validity in the diagnosis of autism spectrum disorder.
C1 [Frazier, Thomas W.; Embacher, Rebecca; Eng, Charis] Cleveland Clin, Cleveland, OH 44104 USA.
[Youngstrom, Eric A.] Univ N Carolina, Chapel Hill, NC USA.
[Hardan, Antonio Y.] Stanford Univ, Stanford, CA 94305 USA.
[Constantino, John N.] Washington Univ, St Louis, MO USA.
[Law, Paul] Kennedy Krieger Inst, Baltimore, MD 21205 USA.
[Findling, Robert L.] Univ Hosp Case Med Ctr, Cleveland, OH 44106 USA.
RP Frazier, TW (reprint author), Cleveland Clin, Ctr Autism CRS10, 2801 Martin Luther King Jr Dr, Cleveland, OH 44104 USA.
EM fraziet2@ccf.org
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2011, DSM 5 DEV 299 00 AUT
Bryk A. S., 1992, HIERARCHICAL LINEAR
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Constantino JN, 2005, SOCIAL RESPONSIVENES
Frazier TW, 2008, J AUTISM DEV DISORD, V38, P474, DOI 10.1007/s10803-007-0415-z
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Young Margaret B., 2012, Morbidity and Mortality Weekly Report, V61, P1
NR 36
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 JUL
PY 2014
VL 18
IS 5
BP 571
EP 582
DI 10.1177/1362361313481506
PG 12
WC Psychology, Developmental
SC Psychology
GA AJ3JP
UT WOS:000337562700012
PM 24104512
ER
PT J
AU Daniels, AM
Mandell, DS
AF Daniels, Amy M.
Mandell, David S.
TI Explaining differences in age at autism spectrum disorder diagnosis: A
critical review
SO AUTISM
LA English
DT Review
DE autism spectrum disorders; delayed diagnosis; early diagnosis
ID PERVASIVE DEVELOPMENTAL DISORDERS; PRESCHOOL-CHILDREN; PRIMARY-CARE;
PREVALENCE; PARENTS; POPULATION; HEALTH; COMMUNICATION; RECOGNITION;
MEDICAID
AB The diagnosis of autism is often delayed, which translates into a missed opportunity to provide treatment during a critical developmental period. This study reviews studies that assessed factors associated with age at autism spectrum disorder diagnosis and provides recommendations on future research, programs, and policies to improve early detection. A search for all peer-reviewed articles containing the words autism, age, and diagnosis in either the title or abstract was performed. A total of 42 studies published from January 1990 through March 2012 were identified. Mean age at diagnosis for all autism spectrum disorders ranged from 38 to 120 months and has decreased over time. Factors associated with earlier diagnosis included greater symptom severity, high socioeconomic status, and greater parental concern about initial symptoms. Family interactions with the health and education systems prior to diagnosis also influenced age at diagnosis. Geographic variation in age at autism spectrum disorder diagnosis was identified in a number of studies, suggesting that community resources and state policies play a role in early identification. Early detection efforts should include enhanced parental and provider education on the early recognition of developmental problems, interventions aimed at streamlining the process from first concern to eventual diagnosis, and strategies that target underserved populations.
C1 [Daniels, Amy M.] Autism Speaks, New York, NY 10016 USA.
[Mandell, David S.] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA.
RP Daniels, AM (reprint author), Autism Speaks, 1 East 33rd St,4th Floor, New York, NY 10016 USA.
EM amy.daniels@jhsph.edu
RI Mandell, David/H-2730-2012
OI Mandell, David/0000-0001-8240-820X
CR Adelman CR, 2010, THESIS U HOUSTON HOU
American Academy of Pediatrics, 2010, AUT A L A R M
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
[Anonymous], 2006, PREVALENCE AUTISM SP, V58, P1
[Anonymous], 2000, MMWR SURVEILL SUMM, V56, P1
[Anonymous], 2002, PREVALENCE AUTISM SP, V56, P12
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Chamak B, 2011, AUTISM, V15, P83, DOI 10.1177/1362361309354756
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Yeargin-Allsopp M, 2003, JAMA-J AM MED ASSOC, V289, P49, DOI 10.1001/jama.289.1.49
NR 61
TC 4
Z9 4
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 JUL
PY 2014
VL 18
IS 5
BP 583
EP 597
DI 10.1177/1362361313480277
PG 15
WC Psychology, Developmental
SC Psychology
GA AJ3JP
UT WOS:000337562700013
PM 23787411
ER
PT J
AU Bekele, E
Crittendon, JA
Swanson, A
Sarkar, N
Warren, ZE
AF Bekele, Esubalew
Crittendon, Julie A.
Swanson, Amy
Sarkar, Nilanjan
Warren, Zachary E.
TI Pilot clinical application of an adaptive robotic system for young
children with autism
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; joint attention; robotics; technology
ID SPECTRUM DISORDERS; JOINT ATTENTION; MOBILE ROBOT; INTERVENTIONS;
IMITATION
AB It has been argued that clinical applications of advanced technology may hold promise for addressing impairments associated with autism spectrum disorders. This pilot feasibility study evaluated the application of a novel adaptive robot-mediated system capable of both administering and automatically adjusting joint attention prompts to a small group of preschool children with autism spectrum disorders (n = 6) and a control group (n = 6). Children in both groups spent more time looking at the humanoid robot and were able to achieve a high level of accuracy across trials. However, across groups, children required higher levels of prompting to successfully orient within robot-administered trials. The results highlight both the potential benefits of closed-loop adaptive robotic systems as well as current limitations of existing humanoid-robotic platforms.
C1 [Bekele, Esubalew; Crittendon, Julie A.; Swanson, Amy; Sarkar, Nilanjan; Warren, Zachary E.] Vanderbilt Univ, Nashville, TN 37203 USA.
RP Warren, ZE (reprint author), Vanderbilt Univ, Vanderbilt Kennedy Ctr, Treatment & Res Inst Autism Spectrum Disorders TR, PMB 74,230 Appleton Pl, Nashville, TN 37203 USA.
EM zachary.e.warren@vanderbilt.edu
CR Annaz D, 2012, J AUTISM DEV DISORD, V42, P401, DOI 10.1007/s10803-011-1256-3
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NR 39
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 JUL
PY 2014
VL 18
IS 5
BP 598
EP 608
DI 10.1177/1362361313479454
PG 11
WC Psychology, Developmental
SC Psychology
GA AJ3JP
UT WOS:000337562700014
PM 24104517
ER
PT J
AU Rescigno, M
AF Rescigno, Maria
TI Intestinal microbiota and its effects on the immune system
SO CELLULAR MICROBIOLOGY
LA English
DT Review
ID INNATE LYMPHOID-CELLS; SEGMENTED FILAMENTOUS BACTERIA; CD103(+)
DENDRITIC CELLS; REGULATORY T-CELLS; DELTA INTRAEPITHELIAL LYMPHOCYTES;
ARYL-HYDROCARBON RECEPTOR; ROR-GAMMA-T; COMMENSAL BACTERIA; LAMINA
PROPRIA; ORAL TOLERANCE
AB The microbiota colonizes every surface exposed to the external world and in the gut, it plays important roles in physiological functions such as the maturation of the immune system, the degradation of complex food macromolecules and also behaviour. As such, the immune system has developed tools to cohabit with the microbiota, but also to keep it under control. When this control is lost, dysbiosis, i.e. deregulation in bacterial communities, can occur and this can lead to inflammatory disorders, including inflammatory bowel disease, obesity, diabetes and autism. For these reasons, the analysis of the microbiota, its interactions with the host and its composition in disease, have been intensively investigated in the last few years. In this review, we summarize the major findings in the interaction of the microbiota with the host immune system.
C1 European Inst Oncol, Dept Expt Oncol, Milan, Italy.
RP Rescigno, M (reprint author), European Inst Oncol, Dept Expt Oncol, Milan, Italy.
EM maria.rescigno@ieo.eu
FU European Commission; Association for International Cancer Research
(AICR); Associazione Italiana per la Ricerca sul Cancro (AIRC); Italian
Ministry of Health (Ricerca Finalizzata)
FX This work is supported by grants of the European Commission (7th
Framework programme: ERC-Dendroworld and HomeoGUT), by the Association
for International Cancer Research (AICR), by the Associazione Italiana
per la Ricerca sul Cancro (AIRC), and by the Italian Ministry of Health
(Ricerca Finalizzata).
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NR 99
TC 5
Z9 5
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1462-5814
EI 1462-5822
J9 CELL MICROBIOL
JI Cell Microbiol.
PD JUL
PY 2014
VL 16
IS 7
BP 1004
EP 1013
DI 10.1111/cmi.12301
PG 10
WC Cell Biology; Microbiology
SC Cell Biology; Microbiology
GA AJ4SY
UT WOS:000337667600003
PM 24720613
ER
PT J
AU Latta, A
Rampton, T
Rosemann, J
Peterson, M
Mandleco, B
Dyches, T
Roper, S
AF Latta, A.
Rampton, T.
Rosemann, J.
Peterson, M.
Mandleco, B.
Dyches, T.
Roper, S.
TI Snapshots reflecting the lives of siblings of children with autism
spectrum disorders
SO CHILD CARE HEALTH AND DEVELOPMENT
LA English
DT Article
DE autism spectrum disorder; qualitative; siblings
ID BEHAVIORAL-ADJUSTMENT; PHOTO-ELICITATION; DEVELOPMENTAL-DISABILITIES;
COPING STRATEGIES; INDIVIDUALS; PHOTOGRAPHY; PERCEPTIONS; STRESS; LIFE;
EXPERIENCES
AB Background Past research focused on the effects of raising a child with autism spectrum disorder on families. However, most research examined parents' perspectives rather than siblings' perspectives. Therefore, the purpose of this qualitative descriptive design was to use photo elicitation to capture perspectives of siblings living with a child with autism spectrum disorder. Methods Fourteen siblings (nine male) of 13 children with autism spectrum disorder received disposable cameras with 24-27 colour exposures, and were asked to photograph what was important to them within 2 weeks. After developing snapshots, investigators interviewed siblings about their photographs, and used open, axial and selective coding to determine photograph categories and subcategories. Results Two major categories were found: people (family members, non-family members) and non-people (personal items/objects, animals, buildings, scenery). Interviews about photographs reflected experiences siblings had with people/non-people in the snapshots and their normal everyday activities. Most photographs revealed family life and activities any sibling would experience whether or not they lived in a family raising a child with autism spectrum disorder. Conclusions Photo elicitation facilitates communication between children and health-care professionals, and provides information about living with a child with autism spectrum disorder from the sibling's perspective. This information contributes to our knowledge base and allows development of specific intervention plans for siblings of these children.
C1 [Latta, A.] Beth Israel Deaconess Med Ctr, Boston, MA 02215 USA.
[Rampton, T.] Alaska Hlth Fairs, Anchorage, AK USA.
[Rosemann, J.] Primary Childrens Med Ctr, Salt Lake City, UT 84103 USA.
[Peterson, M.] Vanderbilt Univ, Med Ctr, Nashville, TN USA.
[Mandleco, B.] Brigham Young Univ, Coll Nursing, Provo, UT 84602 USA.
[Dyches, T.] Brigham Young Univ, Dept Counseling Psychol & Special Educ, Provo, UT 84602 USA.
[Roper, S.] Brigham Young Univ, Coll Family Home & Social Sci, Provo, UT 84602 USA.
RP Mandleco, B (reprint author), Brigham Young Univ, Coll Nursing, 474 SWKT, Provo, UT 84602 USA.
EM barbara-mandleco@byu.edu
FU College of Nursing, at Brigham Young University, Provo, UT; Family
Studies Center, at Brigham Young University, Provo, UT
FX This project was funded by the College of Nursing, and the Family
Studies Center, at Brigham Young University, Provo, UT.
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NR 70
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0305-1862
EI 1365-2214
J9 CHILD CARE HLTH DEV
JI Child Care Health Dev.
PD JUL
PY 2014
VL 40
IS 4
BP 515
EP 524
DI 10.1111/cch.12100
PG 10
WC Psychology, Developmental; Pediatrics
SC Psychology; Pediatrics
GA AJ3EC
UT WOS:000337547500008
PM 23952538
ER
PT J
AU Huber, S
Fieder, M
AF Huber, Susanne
Fieder, Martin
TI Advanced paternal age is associated with lower facial attractiveness
SO EVOLUTION AND HUMAN BEHAVIOR
LA English
DT Article
DE Paternal age; Education; Early life; Attractiveness; Wisconsin
Longitudinal Study
ID DE-NOVO MUTATIONS; PHYSICAL ATTRACTIVENESS; EVOLUTIONARY PSYCHOLOGY;
RISK; SCHIZOPHRENIA; POPULATION; DEPRESSION; AUTISM; COHORT
AB In view of disease risk, Kong et al. (2012) demonstrated that most of the new mutations are explained by the age of the father at conception. Accordingly, paternal age effects have been found for a variety of offspring traits, from physical and mental health to intelligence. Here, we investigated whether facial attractiveness is significantly associated with paternal age. We used the Wisconsin Longitudinal Study (n = 4018 male and 4416 female high school graduates) to analyze the association between an individual's father's age at birth and that individual's facial attractiveness (estimated by rating the high school yearbook photographs from 1957), controlling for sex, age as well as mother's age. We find that subject's facial attractiveness decreased with advancing paternal but not maternal age, suggesting that facial attractiveness might be a cue of an individual's new mutation load. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Huber, Susanne; Fieder, Martin] Univ Vienna, Dept Anthropol, A-1090 Vienna, Austria.
RP Huber, S (reprint author), Univ Vienna, Dept Anthropol, Althanstr 14, A-1090 Vienna, Austria.
EM susanne.huber@univie.ac.at
FU National Institute of Aging [AG-9775, AG-21079, AG-033285]; Vilas Estate
Trust; National Science Foundation; Spencer Foundation; Graduate School
of the University of Wisconsin-Madison
FX We thank Geoffrey Miller and the other anonymous reviewers for their
constructive and helpful comments and suggestions. This research uses
data from the Wisconsin Longitudinal Study (WLS) of the University of
Wisconsin-Madison. Since 1991, the WLS has been supported principally by
the National Institute of Aging (AG-9775 AG-21079 and AG-033285), with
additional support from the Vilas Estate Trust, the National Science
Foundation, the Spencer Foundation, and the Graduate School of the
University of Wisconsin-Madison. A public use file of data from the
Wisconsin Longitudinal Study is available from the Wisconsin
Longitudinal Study, University of Wisconsin-Madison, 1180 Observatory
Drive, Madison, Wisconsin 53706 and at
http://www.ssc.wisc.edu/wlsresearch/data/. The opinions expressed herein
are those of the authors.
CR Arden R, 2009, INTELLIGENCE, V37, P581, DOI 10.1016/j.intell.2009.03.008
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NR 31
TC 3
Z9 3
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 JUL
PY 2014
VL 35
IS 4
BP 298
EP 301
DI 10.1016/j.evolhumbehav.2014.02.011
PG 4
WC Psychology, Biological; Behavioral Sciences; Social Sciences, Biomedical
SC Psychology; Behavioral Sciences; Biomedical Social Sciences
GA AJ5IB
UT WOS:000337714800007
ER
PT J
AU Gizzonio, V
Avanzini, P
Fabbri-Destro, M
Campi, C
Rizzolatti, G
AF Gizzonio, Valentina
Avanzini, Pietro
Fabbri-Destro, Maddalena
Campi, Cristina
Rizzolatti, Giacomo
TI Cognitive abilities in siblings of children with autism spectrum
disorders
SO EXPERIMENTAL BRAIN RESEARCH
LA English
DT Article
DE Autism; Siblings; Cognitive profile; Endophenotype; WISC
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; SOCIAL
RESPONSIVENESS SCALE; SCHIZOPHRENIC CHILDREN; 1ST-DEGREE RELATIVES;
ASPERGER-SYNDROME; FOLLOW-UP; PATTERNS; PROFILES; INDIVIDUALS
AB The aim of the present study was to assess the cognitive profiles of children with autistic spectrum disorder and of their healthy siblings (Siblings). With the term cognitive profile, we indicate the relationship extant among the values of verbal and performance subtests of the Wechsler Intelligence Scale. The conducted statistical analyses indicated that, although siblings showed a normal intelligent quotient and did not differ in this aspect from typically developing group, their cognitive profile was amazingly similar to that of their relatives affected by autism. A k-means clustering analysis on the values of single subtests further confirmed this result, showing a clear separation between typically developing children on the one side, and autistics and their siblings on the other. We suggest that the common cognitive profile observed in autistic children and their siblings could represent a marker of liability to autism and, thus, a possible intermediate phenotype of this syndrome.
C1 [Gizzonio, Valentina; Avanzini, Pietro; Campi, Cristina; Rizzolatti, Giacomo] Univ Parma, Dipartimento Neurosci, Sez Fisiol, I-43100 Parma, Italy.
[Fabbri-Destro, Maddalena; Rizzolatti, Giacomo] Italian Inst Technol, Brain Ctr Social & Motor Cognit, I-43100 Parma, Italy.
RP Rizzolatti, G (reprint author), Univ Parma, Dipartimento Neurosci, Sez Fisiol, Via Volturno 39-E, I-43100 Parma, Italy.
EM giacomo.rizzolatti@unipr.it
FU ERC [250013]
FX VG, PA and CC were supported by ERC Grant Cogsystem to GR, contract no.
250013. We thank Dr. Fabio Sambataro and Sonia Boria for critical
reading and for their remarks on previous versions of the manuscript. A
special thanks to the staff of the Pediatric Neuropsychiatry of Empoli,
of the rehabilitation center for autism "Centro Mai Soli" in Genova, of
the Institute of Rehabilitation "Village Eugenio Litta," Grottaferrata,
Roma, and of the Autism Center of Parma for their invaluable
collaboration in data collection. We also thank the staff and families
of IV Circolo "Risorgimento - San Berardo" primary school in Teramo for
providing the control group. Last but not least, thanks to all the
children and their families for the availability and patience.
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NR 56
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0014-4819
EI 1432-1106
J9 EXP BRAIN RES
JI Exp. Brain Res.
PD JUL
PY 2014
VL 232
IS 7
BP 2381
EP 2390
DI 10.1007/s00221-014-3935-8
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AJ6GK
UT WOS:000337788600031
PM 24710667
ER
PT J
AU Hunsaker, MR
Scott, JA
Bauman, MD
Schumann, CM
Amaral, DG
AF Hunsaker, Michael R.
Scott, Julia A.
Bauman, Melissa D.
Schumann, Cynthia M.
Amaral, David G.
TI Postnatal development of the hippocampus in the Rhesus macaque (Macaca
mulatta): A longitudinal magnetic resonance imaging study
SO HIPPOCAMPUS
LA English
DT Article
DE Rhesus macaque; magnetic resonance imaging; hippocampus; longitudinal
development; primate model
ID NEONATAL AMYGDALA LESIONS; BRAIN-DEVELOPMENT; QUANTITATIVE-ANALYSIS;
DENTATE GYRUS; TEMPORAL-LOBE; GENDER-DIFFERENCES; NONHUMAN PRIMATE;
MONKEYS; CHILDREN; AUTISM
AB Nonhuman primates are widely used models to investigate the neural substrates of human behavior, including the development of higher cognitive and affective function. Due to their neuroanatomical and behavioral homologies with humans, the rhesus macaque monkey (Macaca mulatta) provides an excellent animal model in which to characterize the maturation of brain structures from birth through adulthood and into senescence. To evaluate hippocampal development in rhesus macaques, structural magnetic resonance imaging scans were obtained longitudinally at 9 time points between 1 week and 260 weeks (5 years) of age on 24 rhesus macaque monkeys (12 males, 12 females). In our sample, the hippocampus reaches 50% of its adult volume by 13 weeks of age and reaches an adult volume by 52 weeks in both males and females. The hippocampus appears to be slightly larger at 3 years than at 5 years of age. Male rhesus macaques have larger hippocampi than females from 8 weeks onward by approximately 5%. Interestingly, there was increased variability in hemispheric asymmetry for hippocampus volumes at younger ages than at later ages. These data provide a comprehensive evaluation of the longitudinal development of male and female rhesus macaque hippocampus across development from 1 week to 5 years of age. (c) 2014 Wiley Periodicals, Inc.
C1 [Hunsaker, Michael R.; Scott, Julia A.; Bauman, Melissa D.; Schumann, Cynthia M.; Amaral, David G.] Univ Calif Davis, Dept Psychiat & Behav Sci, Med Ctr, Sacramento, CA 95817 USA.
[Hunsaker, Michael R.; Bauman, Melissa D.; Schumann, Cynthia M.; Amaral, David G.] Univ Calif Davis, Med Ctr, MIND Inst, Sacramento, CA 95817 USA.
[Scott, Julia A.] Univ Calif Davis, Program Neurosci, MIND Inst, Sacramento, CA 95817 USA.
[Bauman, Melissa D.; Amaral, David G.] Univ Calif Davis, Calif Natl Primate Res Ctr, MIND Inst, Sacramento, CA 95817 USA.
RP Amaral, DG (reprint author), Univ Calif Davis, Dept Psychiat & Behav Sci, MIND Inst, 2825 50th St, Sacramento, CA 95817 USA.
EM dgamaral@ucdavis.edu
FU NIH [R01 NS016980, R37 MH57502]
FX Grant sponsor: NIH; Grant number: R01 NS016980 and R37 MH57502.
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NR 70
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1050-9631
EI 1098-1063
J9 HIPPOCAMPUS
JI Hippocampus
PD JUL
PY 2014
VL 24
IS 7
BP 794
EP 807
DI 10.1002/hipo.22271
PG 14
WC Neurosciences
SC Neurosciences & Neurology
GA AJ4TD
UT WOS:000337668200008
PM 24648155
ER
PT J
AU Wee, CY
Wang, L
Shi, F
Yap, PT
Shen, D
AF Wee, Chong-Yaw
Wang, Li
Shi, Feng
Yap, Pew-Thian
Shen, Dinggang
TI Diagnosis of autism spectrum disorders using regional and interregional
morphological features
SO HUMAN BRAIN MAPPING
LA English
DT Review
DE autism spectrum disorders (ASD); magnetic resonance imaging (MRI);
regional features; interregional features; multiple-kernel learning
(MKL); limbic system; rightward asymmetry
ID HIGH-FUNCTIONING AUTISM; VOXEL-BASED MORPHOMETRY; PROSPECTIVE MOTION
CORRECTION; SUPPORT VECTOR MACHINES; CROSS-MODAL ASSOCIATION;
SURFACE-BASED ANALYSIS; HUMAN CEREBRAL-CORTEX; WHOLE-BRAIN ANALYSIS;
CORTICAL THICKNESS; PATTERN-CLASSIFICATION
AB This article describes a novel approach to identify autism spectrum disorder (ASD) utilizing regional and interregional morphological patterns extracted from structural magnetic resonance images. Two types of features are extracted to characterize the morphological patterns: (1) Regional features, which includes the cortical thickness, volumes of cortical gray matter, and cortical-associated white matter regions, and several subcortical structures extracted from different regions-of-interest (ROIs); (2) Interregional features, which convey the morphological change pattern between pairs of ROIs. We demonstrate that the integration of regional and interregional features via multi-kernel learning technique can significantly improve the classification performance of ASD, compared with using either regional or interregional features alone. Specifically, the proposed framework achieves an accuracy of 96.27% and an area of 0.9952 under the receiver operating characteristic curve, indicating excellent diagnostic power and generalizability. The best performance is achieved when both feature types are weighted approximately equal, indicating complementary between these two feature types. Regions that contributed the most to classification are in line with those reported in the previous studies, particularly the subcortical structures that are highly associated with human emotional modulation and memory formation. The autistic brains demonstrate a significant rightward asymmetry pattern particularly in the auditory language areas. These findings are in agreement with the fact that ASD is a behavioral- and language-related neurodevelopmental disorder. By concurrent consideration of both regional and interregional features, the current work presents an effective means for better characterization of neurobiological underpinnings of ASD that facilitates its identification from typically developing children. Hum Brain Mapp 35:3414-3430, 2014. (c) 2013 Wiley Periodicals, Inc.
C1 [Wee, Chong-Yaw; Wang, Li; Shi, Feng; Yap, Pew-Thian; Shen, Dinggang] Univ N Carolina, Image Display Enhancement & Anal IDEA Lab, BRIC, Dept Radiol, Chapel Hill, NC 27599 USA.
[Shen, Dinggang] Korea Univ, Dept Brain & Cognit Engn, Seoul, South Korea.
RP Shen, D (reprint author), Univ N Carolina, Dept Radiol, Chapel Hill, NC 27599 USA.
EM dgshen@med.unc.edu
FU National Institute of Health [EB006733, EB008374, EB009634, MH088520,
AG041721]; National Research Foundation grant - Korean government
[2012-005741]
FX Contract grant sponsor: National Institute of Health; Contract grant
numbers: EB006733, EB008374, EB009634, MH088520, AG041721; Contract
grant sponsor: National Research Foundation grant funded by the Korean
government; Contract grant number: 2012-005741.
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NR 129
TC 0
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 JUL
PY 2014
VL 35
IS 7
BP 3414
EP 3430
DI 10.1002/hbm.22411
PG 17
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AJ5SC
UT WOS:000337746800041
PM 25050428
ER
PT J
AU Tan, RJ
Wang, YD
Kleinstein, SE
Liu, YZ
Zhu, XL
Guo, HZ
Jiang, QH
Allen, AS
Zhu, MF
AF Tan, Renjie
Wang, Yadong
Kleinstein, Sarah E.
Liu, Yongzhuang
Zhu, Xiaolin
Guo, Hongzhe
Jiang, Qinghua
Allen, Andrew S.
Zhu, Mingfu
TI An Evaluation of Copy Number Variation Detection Tools from Whole-Exome
Sequencing Data
SO HUMAN MUTATION
LA English
DT Article
DE copy number variation; whole-exome sequencing; whole-genome sequencing;
evaluation studies
ID STRUCTURAL VARIATION; HUMAN GENOME; COMPUTATIONAL METHODS;
POPULATION-SCALE; DISCOVERY; AUTISM; SPECTRUM; DISEASE; POLYMORPHISM;
ALGORITHM
AB Copy number variation (CNV) has been found to play an important role in human disease. Next-generation sequencing technology, including whole-genome sequencing (WGS) and whole-exome sequencing (WES), has become a primary strategy for studying the genetic basis of human disease. Several CNV calling tools have recently been developed on the basis of WES data. However, the comparative performance of these tools using real data remains unclear. An objective evaluation study of these tools in practical research situations would be beneficial. Here, we evaluated four well-known WES-based CNV detection tools (XHMM, CoNIFER, ExomeDepth, and CONTRA) using real data generated in house. After evaluation using six metrics, we found that the sensitive and accurate detection of CNVs in WES data remains challenging despite the many algorithms available. Each algorithm has its own strengths and weaknesses. None of the exome-based CNV calling methods performed well in all situations; in particular, compared with CNVs identified from high coverage WGS data from the same samples, all tools suffered from limited power. Our evaluation provides a comprehensive and objective comparison of several well-known detection tools designed for WES data, which will assist researchers in choosing the most suitable tools for their research needs.
C1 [Tan, Renjie; Wang, Yadong; Liu, Yongzhuang; Guo, Hongzhe; Jiang, Qinghua] Harbin Inst Technol, Sch Comp Sci & Technol, Ctr Biomed Informat, Harbin 150001, Heilongjiang, Peoples R China.
[Tan, Renjie; Kleinstein, Sarah E.; Liu, Yongzhuang; Zhu, Xiaolin; Guo, Hongzhe; Allen, Andrew S.; Zhu, Mingfu] Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USA.
[Kleinstein, Sarah E.] Duke Univ, Sch Med, Dept Mol Genet & Microbiol, Durham, NC USA.
[Allen, Andrew S.] Duke Univ, Dept Biostat & Bioinformat, Durham, NC USA.
[Zhu, Mingfu] Tute Genom, Provo, UT USA.
RP Wang, YD (reprint author), Harbin Inst Technol, Sch Comp Sci & Technol, Ctr Biomed Informat, Harbin 150001, Heilongjiang, Peoples R China.
EM ydwang@hit.edu.cn; mingfu@tutegenomics.com
FU Natural Science Foundation of China [61102149, 61173085]; China
Scholarship Council
FX Contract grant sponsors: The Natural Science Foundation of China
(61102149 and 61173085); The China Scholarship Council.
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NR 46
TC 9
Z9 10
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1059-7794
EI 1098-1004
J9 HUM MUTAT
JI Hum. Mutat.
PD JUL
PY 2014
VL 35
IS 7
BP 899
EP 907
DI 10.1002/humu.22537
PG 9
WC Genetics & Heredity
SC Genetics & Heredity
GA AJ5EQ
UT WOS:000337705500016
PM 24599517
ER
PT J
AU Wass, SV
Smith, TJ
AF Wass, Sam V.
Smith, Tim J.
TI Individual Differences in Infant Oculomotor Behavior During the Viewing
of Complex Naturalistic Scenes
SO INFANCY
LA English
DT Review
ID AUTISM SPECTRUM DISORDER; SACCADIC EYE-MOVEMENTS; HIGH-DENSITY ERP;
VISUAL-ATTENTION; FIXATION DURATIONS; DYNAMICAL MODEL; LOCUS-COERULEUS;
YOUNG-CHILDREN; HUMAN NEWBORN; ONSET DELAY
AB Little research hitherto has examined how individual differences in attention, as assessed using standard experimental paradigms, relate to individual differences in how attention is spontaneously allocated in more naturalistic contexts. Here, we analyzed the time intervals between refoveating eye movements (fixation durations) while typically developing 11-month-old infants viewed a 90-min battery ranging from complex dynamic to noncomplex static materials. The same infants also completed experimental assessments of cognitive control, psychomotor reaction times (RT), processing speed (indexed via peak look during habituation), and arousal (indexed via tonic pupil size). High test-retest reliability was found for fixation duration, across testing sessions and across types of viewing material. Increased cognitive control and increased arousal were associated with reduced variability in fixation duration. For fixations to dynamic stimuli, in which a large proportion of saccades may be exogenously cued, we found that psychomotor RT measures were most predictive of mean fixation duration; for fixations to static stimuli, in contrast, in which there is less exogenous attentional capture, we found that psychomotor RT did not predict performance, but that measures of cognitive control and arousal did. The implications of these findings for understanding the development of attentional control in naturalistic settings are discussed.
C1 [Wass, Sam V.] MRC, Cognit & Brain Sci Unit, Cambridge CB2 7EF, England.
[Smith, Tim J.] Univ London Birkbeck Coll, Sch Psychol Sci, London WC1E 7HX, England.
RP Wass, SV (reprint author), MRC, Cognit & Brain Sci Unit, 15 Chaucer Rd, Cambridge CB2 7EF, England.
EM sam.wass@mrc-cbu.cam.ac.uk
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NR 121
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1525-0008
EI 1532-7078
J9 INFANCY
JI Infancy
PD JUL
PY 2014
VL 19
IS 4
BP 352
EP 384
DI 10.1111/infa.12049
PG 33
WC Psychology, Developmental
SC Psychology
GA AJ3RP
UT WOS:000337585200002
ER
PT J
AU El Khatib, AA
El Tekeya, MM
El Tantawi, MA
Omar, T
AF El Khatib, Amira A.
El Tekeya, Magda M.
El Tantawi, Maha A.
Omar, Tarek
TI Oral health status and behaviours of children with Autism Spectrum
Disorder: a case-control study
SO INTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY
LA English
DT Article
ID DENTAL PATIENTS; MANAGEMENT
AB Background. Autism Spectrum Disorder (ASD) is a lifelong neuro-developmental disorder characterized by abnormalities in social interactions and communication and by stereotyped, repetitive activities.
Purpose. Assess the oral health status and behaviours of children with ASD.
Methods. The study included 100 children with ASD and 100 healthy children from Alexandria, Egypt. Data were collected using a questionnaire and clinical examination. Questionnaire assessed socio-demographics, medical history, dental history, oral hygiene, dietary habits, and presence of self-injurious behaviours. Clinical examination assessed behaviour during examination, gingival condition, plaque accumulation, caries, and other oral conditions.
Results. Children with ASD had significantly poorer oral hygiene and gingival condition than healthy children (P < 0.001 for both). No significant differences were found in caries prevalence or experience in primary or permanent dentition. More children with ASD behaved 'negatively' or 'definitely negatively' (37% and 11%) than did healthy controls (11% and 2%) (P < 0.0001). Self-injurious behaviour and bruxism were more practised by children with ASD (32% of children with ASD and 2% of healthy children, P < 0.001). More children with ASD had difficulty in accessing dental care (P = 0.002).
Conclusions. The oral condition of children with ASD might increase the risk of developing dental diseases. Their behaviour and life factors may complicate provision of services and limit access to dental care. Therefore, individualized oral health education programmes should be implemented for those children.
C1 [El Khatib, Amira A.] Univ Alexandria, Fac Dent, Dept Pediat Dent, Alexandria 21121, Egypt.
[El Tekeya, Magda M.; El Tantawi, Maha A.] Univ Alexandria, Fac Dent, Dent Publ Hlth Dept, Alexandria 21121, Egypt.
[Omar, Tarek] Univ Alexandria, Fac Med, Dept Pediat, Alexandria 21121, Egypt.
RP El Khatib, AA (reprint author), Univ Alexandria, Fac Dent, Dept Pediat Dent, Meroza Compound Villa 11B, Alexandria 21121, Egypt.
EM amira.a.h@hotmail.com
RI El Tantawi, Maha/K-4336-2014
OI El Tantawi, Maha/0000-0003-4989-6584
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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 0960-7439
EI 1365-263X
J9 INT J PAEDIATR DENT
JI Int. J. Paediatr. Dent.
PD JUL
PY 2014
VL 24
IS 4
BP 314
EP 323
DI 10.1111/ipd.12067
PG 10
WC Dentistry, Oral Surgery & Medicine; Pediatrics
SC Dentistry, Oral Surgery & Medicine; Pediatrics
GA AJ5CR
UT WOS:000337699400008
PM 24750459
ER
PT J
AU Philippi, CL
Koenigs, M
AF Philippi, Carissa L.
Koenigs, Michael
TI The neuropsychology of self-reflection in psychiatric illness
SO JOURNAL OF PSYCHIATRIC RESEARCH
LA English
DT Review
DE Self-reflection; Psychiatric illness; Depression; Anxiety; Psychopathy;
Autism; Neuropsychology; Rest-state functional neuroimaging; Medial
prefrontal cortex; Default mode network
ID DEFAULT-MODE NETWORK; AUTISM SPECTRUM DISORDER; FOCUSED ATTENTION; MAJOR
DEPRESSION; FUNCTIONAL CONNECTIVITY; FRONTOTEMPORAL DEMENTIA;
SCHIZOPHRENIC-PATIENTS; NEUROPSYCHIATRIC DISORDERS; AUDITORY
HALLUCINATIONS; BEHAVIORAL VARIANT
AB The development of robust neuropsychological measures of social and affective function-which link critical dimensions of mental health to their underlying neural circuitry-could be a key step in achieving a more pathophysiologically-based approach to psychiatric medicine. In this article, we summarize research indicating that self-reflection (the inward attention to personal thoughts, memories, feelings, and actions) may be a useful model for developing such a paradigm, as there is evidence that self-reflection is (1) measurable with self-report scales and performance-based tests, (2) linked to the activity of a specific neural circuit, and (3) dimensionally related to mental health and various forms of psychopathology. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Philippi, Carissa L.; Koenigs, Michael] Univ Wisconsin, Dept Psychiat, Madison, WI 53719 USA.
RP Philippi, CL (reprint author), Univ Wisconsin, Dept Psychiat, 6001 Res Pk Blvd, Madison, WI 53719 USA.
EM cphilippi@wisc.edu; mrkoenigs@wisc.edu
FU NIH [_100000002, T32MH018931-23, MH086787]
FX This work was supported by NIH (_100000002) grants T32MH018931-23 and
MH086787.
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NR 124
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0022-3956
EI 1879-1379
J9 J PSYCHIATR RES
JI J. Psychiatr. Res.
PD JUL
PY 2014
VL 54
BP 55
EP 63
DI 10.1016/j.jpsychires.2014.03.004
PG 9
WC Psychiatry
SC Psychiatry
GA AJ4MA
UT WOS:000337649300007
PM 24685311
ER
PT J
AU Froehlich-Santino, W
Tobon, AL
Cleveland, S
Torres, A
Phillips, J
Cohen, B
Torigoe, T
Miller, J
Fedele, A
Collins, J
Smith, K
Lotspeich, L
Croen, LA
Ozonoff, S
Lajonchere, C
Grether, JK
O'Hara, R
Hallmayer, J
AF Froehlich-Santino, Wendy
Tobon, Amalia Londono
Cleveland, Sue
Torres, Andrea
Phillips, Jennifer
Cohen, Brianne
Torigoe, Tiffany
Miller, Janet
Fedele, Angie
Collins, Jack
Smith, Karen
Lotspeich, Linda
Croen, Lisa A.
Ozonoff, Sally
Lajonchere, Clara
Grether, Judith K.
O'Hara, Ruth
Hallmayer, Joachim
TI Prenatal and perinatal risk factors in a twin study of autism spectrum
disorders
SO JOURNAL OF PSYCHIATRIC RESEARCH
LA English
DT Article
DE Autism; Prenatal; Perinatal; Pregnancy complications; Twins; Environment
ID TRAUMATIC BRAIN-INJURY; LOW-BIRTH-WEIGHT; SEX-DIFFERENCES; COMPREHENSIVE
METAANALYSIS; COGNITIVE RECOVERY; MATERNAL AGE; FETAL SEX; HYPOXIA;
PROGESTERONE; OUTCOMES
AB Introduction: Multiple studies associate prenatal and perinatal complications with increased risks for autism spectrum disorders (ASDs). The objectives of this study were to utilize a twin study design to 1) Investigate whether shared gestational and perinatal factors increase concordance for ASDs in twins, 2) Determine whether individual neonatal factors are associated with the presence of ASDs in twins, and 3) Explore whether associated factors may influence males and females differently.
Methods: Data from medical records and parent response questionnaires from 194 twin pairs, in which at least one twin had an ASD, were analyzed.
Results: Shared factors including parental age, prenatal use of medications, uterine bleeding, and prematurity did not increase concordance risks for ASDs in twins. Among the individual factors, respiratory distress demonstrated the strongest association with increased risk for ASDs in the group as a whole (OR 2.11, 95% CI 1.27-3.51). Furthermore, respiratory distress (OR 2.29, 95% CI 1.12-4.67) and other markers of hypoxia (OR 1.99, 95% CI 1.04-3.80) were associated with increased risks for ASDs in males, while jaundice was associated with an increased risk for ASDs in females (OR 2.94, 95% CI 1.28-6.74).
Conclusions: Perinatal factors associated with respiratory distress and other markers of hypoxia appear to increase risk for autism in a subgroup of twins. Future studies examining potential gender differences and additional prenatal, perinatal and postnatal environmental factors are required for elucidating the etiology of ASDs and suggesting new methods for treatment and prevention. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Froehlich-Santino, Wendy; Tobon, Amalia Londono; Cleveland, Sue; Torres, Andrea; Phillips, Jennifer; Lotspeich, Linda; O'Hara, Ruth; Hallmayer, Joachim] Stanford Univ, Sch Med, Dept Psychiat, Stanford, CA 94305 USA.
[Cohen, Brianne; Torigoe, Tiffany; Miller, Janet; Fedele, Angie; Lajonchere, Clara] Autism Speaks, Autism Genet Resource Exchange, Los Angeles, CA USA.
[Collins, Jack; Croen, Lisa A.] Kaiser Permanente No Calif, Div Res, Oakland, CA USA.
[Smith, Karen] Impact Assessment Inc, La Jolla, CA USA.
[Ozonoff, Sally] Univ Calif Davis, MIND Inst, Sacramento, CA 95817 USA.
[Grether, Judith K.] Calif Dept Publ Hlth, Environm Hlth Invest Branch, Richmond, CA USA.
RP Froehlich-Santino, W (reprint author), Stanford Univ, 401 Quarry Rd, Stanford, CA 94305 USA.
EM wendyf@stanford.edu
FU National Institute of Mental Health, United States [R01MH067005]; Autism
Speaks, United States
FX a. Grant Sponsor: National Institute of Mental Health, United States;
Grant number: R01MH067005,b. Grant Sponsor: Autism Speaks, United
States; Grant number: N/A
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NR 49
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0022-3956
EI 1879-1379
J9 J PSYCHIATR RES
JI J. Psychiatr. Res.
PD JUL
PY 2014
VL 54
BP 100
EP 108
DI 10.1016/j.jpsychires.2014.03.019
PG 9
WC Psychiatry
SC Psychiatry
GA AJ4MA
UT WOS:000337649300013
PM 24726638
ER
PT J
AU Kuriakose, S
AF Kuriakose, Sarah
TI Concurrent Validity of the WISC-IV and DAS-II in Children With Autism
Spectrum Disorder
SO JOURNAL OF PSYCHOEDUCATIONAL ASSESSMENT
LA English
DT Article
DE cognitive assessment; autism; DAS-II; WISC-IV; concurrent validity;
autism spectrum disorder
ID HIGH-FUNCTIONING AUTISM; EARLY INTERVENTION PROGRAMS; BEHAVIORAL
TREATMENT; INTELLIGENCE SCALES; PRESCHOOL-CHILDREN; PROFILES; LEVEL;
AGE; ADOLESCENTS; DIAGNOSIS
AB Cognitive assessments are used for a variety of research and clinical purposes in children with autism spectrum disorder (ASD). This study establishes concurrent validity of the Wechsler Intelligence Scales for Children-fourth edition (WISC-IV) and Differential Ability Scales-second edition (DAS-II) in a sample of children with ASD with a broad range of cognitive abilities. Participants achieved significantly higher overall scores on the DAS-II and nearly half the sample achieved a higher classification label on the DAS-II. The difference between overall scores is suggested to be attributable to a relative weakness in processing speed, which is assessed on the WISC-IV but not the DAS-II. Autistic symptomatology was not associated with cognitive scores, while adaptive behavior was positively associated. Neither was associated with the magnitude of difference between overall scores. Choice of assessment should be considered carefully given the systematic differences in overall scores produced in this population.
C1 [Kuriakose, Sarah] NYU, New York, NY 10016 USA.
RP Kuriakose, S (reprint author), NYU, Ctr Child Study, Langone Med Ctr, One Pk Ave 7th Floor, New York, NY 10016 USA.
EM sarah.kuriakose@nyumc.org
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NR 43
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0734-2829
EI 1557-5144
J9 J PSYCHOEDUC ASSESS
JI J. Psychoeduc. Assess.
PD JUL
PY 2014
VL 32
IS 4
BP 283
EP 294
DI 10.1177/0734282913511051
PG 12
WC Psychology, Educational
SC Psychology
GA AJ3VV
UT WOS:000337596900001
ER
PT J
AU Bruni, TP
Constantino, JN
Gruber, CP
AF Bruni, Teryn P.
Constantino, J. N.
Gruber, C. P.
TI Social Responsiveness Scale-Second Edition (SRS-2)
SO JOURNAL OF PSYCHOEDUCATIONAL ASSESSMENT
LA English
DT Book Review
ID CHECKLIST; AUTISM
C1 [Bruni, Teryn P.] Cent Michigan Univ, Mt Pleasant, MI 48859 USA.
RP Bruni, TP (reprint author), Cent Michigan Univ, Mt Pleasant, MI 48859 USA.
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NR 15
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0734-2829
EI 1557-5144
J9 J PSYCHOEDUC ASSESS
JI J. Psychoeduc. Assess.
PD JUL
PY 2014
VL 32
IS 4
BP 365
EP 369
DI 10.1177/0734282913517525
PG 5
WC Psychology, Educational
SC Psychology
GA AJ3VV
UT WOS:000337596900008
ER
PT J
AU Schneider, C
Taylor, D
Zalsman, G
Frangou, S
Kyriakopoulos, M
AF Schneider, Carolina
Taylor, David
Zalsman, Gil
Frangou, Sophia
Kyriakopoulos, Marinos
TI Antipsychotics use in children and adolescents: An on-going challenge in
clinical practice
SO JOURNAL OF PSYCHOPHARMACOLOGY
LA English
DT Review
DE Antipsychotic medication; children; adolescents; bipolar; schizophrenia;
autism; adverse effects
ID CHILDHOOD-ONSET SCHIZOPHRENIA; PERVASIVE DEVELOPMENTAL DISORDERS;
DISRUPTIVE BEHAVIOR DISORDERS; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
TERM RISPERIDONE TREATMENT; PLACEBO-CONTROLLED TRIAL; BIPOLAR I
DISORDER; DOUBLE-BLIND; OPEN-LABEL; SCHIZOAFFECTIVE DISORDER
AB Antipsychotic medications (APs) are a well-established pharmacological treatment in adults with serious mental health problems. However, many adult mental health disorders have their origins and onset in childhood or adolescence. The understanding that neuropsychiatric conditions of childhood are in part biologically determined, led to an increase in the number of clinical trials supporting evidence on the efficacy of antipsychotic agents as first-line treatment for childhood psychotic disorders and therapeutic augmentation of nonpsychotic conditions. In recent years the use of antipsychotics in children and adolescents for neurodevelopmental, behavioural and psychiatric disorders has significantly increased while the age of prescription has decreased. These trends have not been matched by advances in the understanding of APs' safety profile in this group of patients. It is therefore crucial that current and future practice is informed by up-to-date synthesis of the evidence and clinical guidelines about the use and monitoring of these treatments in paediatric populations, since the effectiveness of early therapeutic interventions in children can affect positively the long-term outcome.
C1 [Schneider, Carolina; Kyriakopoulos, Marinos] South London & Maudsley NHS Fdn Trust, Natl & Specialist Acorn Lodge Childrens Unit, London, England.
[Schneider, Carolina; Taylor, David; Kyriakopoulos, Marinos] Kings Coll London, Inst Psychiat, London SE5 8AF, England.
[Taylor, David] South London & Maudsley NHS Fdn Trust, Dept Pharm, London, England.
[Zalsman, Gil] Tel Aviv Univ, Div Child & Adolescent Psychiat, IL-69978 Tel Aviv, Israel.
[Zalsman, Gil] Columbia Univ, Mol Imaging & Neuropathol Div, New York, NY USA.
[Frangou, Sophia; Kyriakopoulos, Marinos] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA.
RP Kyriakopoulos, M (reprint author), Kings Coll London, Natl & Specialist Acorn Lodge Inpatient Childrens, P066,De Crespigny Pk, London SE5 8AF, England.
EM marinos.kyriakopoulos@kcl.ac.uk
FU European Community [279227]
FX This review has been supported by funding from the European Community's
Seventh Framework Programme (FP7/2007-2013) under grant agreement no.
279227. The funding agency has had no input in any aspect of data
review, interpretation and manuscript writing.
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NR 93
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0269-8811
EI 1461-7285
J9 J PSYCHOPHARMACOL
JI J. Psychopharmacol.
PD JUL
PY 2014
VL 28
IS 7
BP 615
EP 623
DI 10.1177/0269881114533599
PG 9
WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AJ3PX
UT WOS:000337580300001
ER
PT J
AU Ghaleiha, A
Ghyasvand, M
Mohammadi, MR
Farokhnia, M
Yadegari, N
Tabrizi, M
Hajiaghaee, R
Yekehtaz, H
Akhondzadeh, S
AF Ghaleiha, Ali
Ghyasvand, Mohammad
Mohammadi, Mohammad-Reza
Farokhnia, Mehdi
Yadegari, Noorollah
Tabrizi, Mina
Hajiaghaee, Reza
Yekehtaz, Habibeh
Akhondzadeh, Shahin
TI Galantamine efficacy and tolerability as an augmentative therapy in
autistic children: A randomized, double-blind, placebo-controlled trial
SO JOURNAL OF PSYCHOPHARMACOLOGY
LA English
DT Article
DE Acetylcholinesterase inhibitor; autism; cholinergic; galantamine;
irritability; nicotinic receptor; randomized controlled trial;
risperidone; social withdrawal
ID NICOTINIC ACETYLCHOLINE-RECEPTORS; ALLOSTERIC POTENTIATING LIGAND;
SPECTRUM DISORDERS; ABERRANT BEHAVIOR; RISPERIDONE; BRAIN;
ABNORMALITIES; ATTENTION; SYSTEMS; DYSFUNCTION
AB The role of cholinergic abnormalities in autism was recently evidenced and there is a growing interest in cholinergic modulation, emerging for targeting autistic symptoms. Galantamine is an acetylcholinesterase inhibitor and an allosteric potentiator of nicotinic receptors. This study aimed to evaluate the possible effects of galantamine as an augmentative therapy to risperidone, in autistic children. In this randomized, double-blind, placebo-controlled, parallel-group study, 40 outpatients aged 4-12 years whom had a diagnosis of autism (DSM IV-TR) and a score of 12 or higher on the Aberrant Behavior Checklist-Community (ABC-C) Irritability subscale were equally randomized to receive either galantamine (up to 24 mg/day) or placebo, in addition to risperidone (up to 2 mg/day), for 10 weeks. We rated participants by ABC-C and a side effects checklist, at baseline and at weeks 5 and 10. By the study endpoint, the galantamine-treated patients showed significantly greater improvement in the Irritability (P = 0.017) and Lethargy/Social Withdrawal (P = 0.005) subscales than the placebo group. The difference between the two groups in the frequency of side effects was not significant. In conclusion, galantamine augmentation was shown to be a relatively effective and safe augmentative strategy for alleviating some of the autism-related symptoms.
C1 [Ghaleiha, Ali] Hamadan Univ Med Sci, Res Ctr Behav Disorders & Substance Abuse, Hamadan, Iran.
[Ghyasvand, Mohammad; Mohammadi, Mohammad-Reza; Farokhnia, Mehdi; Yadegari, Noorollah; Yekehtaz, Habibeh; Akhondzadeh, Shahin] Univ Tehran Med Sci, Roozbeh Hosp, Psychiat Res Ctr, Tehran 13337, Iran.
[Tabrizi, Mina] Univ Tehran Med Sci, Dept Med Genet, Tehran 13337, Iran.
[Hajiaghaee, Reza] Inst Med Plants, Med Plants Res Ctr, Karaj, Iran.
RP Akhondzadeh, S (reprint author), Univ Tehran Med Sci, Roozbeh Psychiat Hosp, Psychiat Res Ctr, South Kargar St, Tehran 13337, Iran.
EM s.akhond@neda.net
FU Tehran University of Medical Sciences [13216]
FX This work was supported by Tehran University of Medical Sciences (grant
number 13216 to SA). The funding organization had no role in the design
and conduct of the study; nor in the collection, analysis and
interpretation of the data; nor in the preparation, review or approval
of the manuscript; nor in the decision to submit the paper for
publication.
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NR 54
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0269-8811
EI 1461-7285
J9 J PSYCHOPHARMACOL
JI J. Psychopharmacol.
PD JUL
PY 2014
VL 28
IS 7
BP 677
EP 685
DI 10.1177/0269881113508830
PG 9
WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AJ3PX
UT WOS:000337580300008
ER
PT J
AU Feinstein, NW
AF Feinstein, Noah Weeth
TI Making sense of autism: Progressive engagement with science among
parents of young, recently diagnosed autistic children
SO PUBLIC UNDERSTANDING OF SCIENCE
LA English
DT Article
DE engagement mapping; lay expertise; public engagement; public
understanding of science; scientific literacy; sociology of health and
illness
ID PARTICIPATION; BEHAVIOR
AB This exploratory study examines the significance of science to parents whose children were recently diagnosed with an autism spectrum disorder. It asks: (1) In what manner did science emerge in parents' concerns and resources as they attempted to understand and advocate for their children? (2) Did some parents engage with science in a qualitatively deeper or more intense manner? Using longitudinal data from interviews and a novel data collection strategy called engagement mapping, it shows that parents asked questions and used resources that were strongly associated with science, but these were vastly outnumbered by "near-science" concerns and resources that mingled meanings from science and daily life. Several parents in the study wove together concerns and resources in an iterative pattern referred to here as progressive engagement with science.
C1 [Feinstein, Noah Weeth] Univ Wisconsin, Dept Curriculum & Instruct, Madison, WI 53706 USA.
[Feinstein, Noah Weeth] Univ Wisconsin, Dept Community & Environm Sociol, Madison, WI 53706 USA.
RP Feinstein, NW (reprint author), Univ Wisconsin, Dept Curriculum & Instruct, 225 North Mills St, Madison, WI 53706 USA.
EM nfeinstein@wisc.edu
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NR 30
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0963-6625
EI 1361-6609
J9 PUBLIC UNDERST SCI
JI Public Underst. Sci.
PD JUL
PY 2014
VL 23
IS 5
BP 592
EP 609
DI 10.1177/0963662512455296
PG 18
WC Communication; History & Philosophy Of Science
SC Communication; History & Philosophy of Science
GA AJ3PA
UT WOS:000337577800007
PM 25414924
ER
PT J
AU Sarasua, SM
Boccuto, L
Sharp, JL
Dwivedi, A
Chen, CF
Rollins, JD
Rogers, RC
Phelan, K
DuPont, BR
AF Sarasua, Sara M.
Boccuto, Luigi
Sharp, Julia L.
Dwivedi, Alka
Chen, Chin-Fu
Rollins, Jonathan D.
Rogers, R. Curtis
Phelan, Katy
DuPont, Barbara R.
TI Clinical and genomic evaluation of 201 patients with Phelan-McDermid
syndrome
SO HUMAN GENETICS
LA English
DT Article
ID 22Q13.3 DELETION SYNDROME; AUTISM SPECTRUM DISORDERS; INVERTED
DUPLICATION; TERMINAL DELETION; SHANK3; GENE; MUTATIONS; IDENTIFICATION;
BREAKPOINT; GROWTH
AB This study is the first to describe age-related changes in a large cohort of patients with Phelan-McDermid syndrome (PMS), also known as 22q13 deletion syndrome. Over a follow-up period of up to 12 years, physical examinations and structured interviews were conducted for 201 individuals diagnosed with PMS, 120 patients had a focused, high-resolution 22q12q13 array CGH, and 92 patients' deletions were assessed for parent-of-origin. 22q13 genomic anomalies include terminal deletions of 22q13 (89 %), terminal deletions and interstitial duplications (9 %), and interstitial deletions (2 %). Considering different age groups, in older patients, behavioral problems tended to subside, developmental abilities improved, and some features such as large or fleshy hands, full or puffy eyelids, hypotonia, lax ligaments, and hyperextensible joints were less frequent. However, the proportion reporting an autism spectrum disorder, seizures, and cellulitis, or presenting with lymphedema or abnormal reflexes increased with age. Some neurologic and dysmorphic features such as speech and developmental delay and macrocephaly correlated with deletion size. Deletion sizes in more recently diagnosed patients tend to be smaller than those diagnosed a decade earlier. Seventy-three percent of de novo deletions were of paternal origin. Seizures were reported three times more often among patients with a de novo deletion of the maternal rather than paternal chromosome 22. This analysis improves the understanding of the clinical presentation and natural history of PMS and can serve as a reference for the prevalence of clinical features in the syndrome.
C1 [Sarasua, Sara M.; Boccuto, Luigi; Dwivedi, Alka; Chen, Chin-Fu; Rollins, Jonathan D.; Rogers, R. Curtis; DuPont, Barbara R.] Greenwood Genet Ctr, Off Bioinformat & Epidemiol, Greenwood, SC 29646 USA.
[Sharp, Julia L.] Clemson Univ, Dept Math Sci, Clemson, SC 29634 USA.
[Phelan, Katy] Tulane Univ, Sch Med, Hayward Genet Ctr, New Orleans, LA 70112 USA.
[Phelan, Katy] Tulane Univ, Sch Med, Dept Pediat, New Orleans, LA 70112 USA.
RP Sarasua, SM (reprint author), Greenwood Genet Ctr, Off Bioinformat & Epidemiol, 101 Gregor Mendel Circle, Greenwood, SC 29646 USA.
EM ssarasua@ggc.org
FU Phelan-McDermid Syndrome Foundation; Genetics Endowment of South
Carolina; South Carolina Department of Disabilities and Special Needs
FX This work was supported, in part, by a fellowship to SMS from the
Phelan-McDermid Syndrome Foundation; the Genetics Endowment of South
Carolina; and the South Carolina Department of Disabilities and Special
Needs.
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World Health Organization, 2006, WHO CHILD GROWTH STA
NR 46
TC 3
Z9 3
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0340-6717
EI 1432-1203
J9 HUM GENET
JI Hum. Genet.
PD JUL
PY 2014
VL 133
IS 7
BP 847
EP 859
DI 10.1007/s00439-014-1423-7
PG 13
WC Genetics & Heredity
SC Genetics & Heredity
GA AI7QD
UT WOS:000337088600002
PM 24481935
ER
PT J
AU Martoccio, TL
Brophy-Herb, HE
Onaga, EE
AF Martoccio, Tiffany L.
Brophy-Herb, Holly E.
Onaga, Esther E.
TI Road to Readiness Pathways From Low-Income Children's Early Interactions
to School Readiness Skills
SO INFANTS & YOUNG CHILDREN
LA English
DT Article
DE joint attention; low-income; parent-child interaction; school readiness
ID EARLY LITERACY DEVELOPMENT; INFANT JOINT ATTENTION; EARLY HEAD-START;
INDIVIDUAL-DIFFERENCES; PRESCHOOL-CHILDREN; EMOTION REGULATION;
LANGUAGE; AUTISM; PREDICTORS; TODDLERS
AB This study utilized data from the Michigan component of the National Early Head Start Research and Evaluation study to examine toddlers' joint attention at 14 months (parent report measure of toddlers' initiating behaviors, e. g., extends arm to show you something he or she is holding, reaches out and gives you a toy he or she has been holding, and points at something interesting) as a mediator of the relations between early mother-child interactions (e. g., mother and child behaviors in response to one another's cues) and later school readiness skills in a low-income sample (N = 127 mother-child dyads). Understanding relations between early parent-child interactions, joint attention, and later school readiness skills is critical to identifying developmental paths of economically at-risk children. Results showed that toddlers' joint attention behaviors at 14 months partially mediated the path between mother-child interaction at 14 months and later school readiness, measured by children's emotion regulation, social-cognition, language development, and literacy and mathematics academic outcomes, at approximately 5 years of age. Results suggest the important roles of early mother-child interactions in low-income families and joint attention in promoting school readiness skills.
C1 [Martoccio, Tiffany L.; Brophy-Herb, Holly E.; Onaga, Esther E.] Michigan State Univ, E Lansing, MI 48824 USA.
RP Martoccio, TL (reprint author), Michigan State Univ, 552 W Circle Dr,7 Human Ecol Bldg, E Lansing, MI 48824 USA.
EM martocc1@msu.edu
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NR 64
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0896-3746
EI 1550-5081
J9 INFANT YOUNG CHILD
JI Infants Young Child.
PD JUL-SEP
PY 2014
VL 27
IS 3
BP 193
EP 206
DI 10.1097/IYC.0000000000000014
PG 14
WC Education, Special; Psychology, Developmental; Rehabilitation
SC Education & Educational Research; Psychology; Rehabilitation
GA AI9YF
UT WOS:000337303100001
ER
PT J
AU Vilaseca, R
Ferrer, F
Olmos, JG
AF Vilaseca, Rosa
Ferrer, Fina
Guardia Olmos, Joan
TI Gender differences in positive perceptions, anxiety, and depression
among mothers and fathers of children with intellectual disabilities: a
logistic regression analysis
SO QUALITY & QUANTITY
LA English
DT Article
DE Positive perceptions; Anxiety; Depression; Children with intellectual
disabilities; Families; Logistic regression
ID SCHOOL-AGED CHILDREN; MENTAL-HEALTH; DEVELOPMENTAL-DISABILITIES;
BEHAVIOR PROBLEMS; HOSPITAL ANXIETY; PARENTAL STRESS; EARLY
INTERVENTION; SOCIAL SUPPORT; AUTISM; POPULATION
AB This study explores gender differences in positive perceptions, anxiety, and depression among mothers and fathers of children with intellectual disabilities (IDs). We examined the relationship between these variables and certain characteristics of both the child (age and severity of disability) and the parents (age, educational level, and employment status). A sample of 60 mother/father couples who had children with IDs completed the Positive Contributions Scale to measure their positive perceptions, and the Hospital Anxiety and Depression Scale to assess their level of anxiety and depression. Bivariate analyses were used to determine differences between fathers and mothers as regards their positive perceptions and levels of anxiety and depression. A logistic regression model was then applied to identify which of the variables might be significant predictors of the gender differences observed among parents. Both mothers and fathers had positive perceptions of their children with IDs that co-existed with symptoms of anxiety and depression, with scores being higher among mothers. The predictive analysis of gender showed that individual variables (such as the employment status of both parents) may explain these differences.
C1 [Vilaseca, Rosa; Ferrer, Fina] Univ Barcelona, Dept Dev & Educ Psychol, Barcelona 08035, Spain.
[Guardia Olmos, Joan] Univ Barcelona, Dept Methodol Behav Sci, Inst Res Brain Cognit & Behav IR3C, Barcelona, Spain.
RP Vilaseca, R (reprint author), Univ Barcelona, Dept Dev & Educ Psychol, Pg Vall dHebron 171, Barcelona 08035, Spain.
EM rosavilaseca@ub.edu; fferrer@ub.edu; jguardia@ub.edu
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NR 50
TC 0
Z9 0
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0033-5177
EI 1573-7845
J9 QUAL QUANT
JI Qual. Quant.
PD JUL
PY 2014
VL 48
IS 4
BP 2241
EP 2253
DI 10.1007/s11135-013-9889-2
PG 13
WC Social Sciences, Interdisciplinary; Statistics & Probability
SC Social Sciences - Other Topics; Mathematics
GA AI9JF
UT WOS:000337248200025
ER
PT J
AU de Boer, M
Spek, AA
Lobbestael, J
AF de Boer, Marion
Spek, Annelies A.
Lobbestael, Jill
TI Comparing cognitive functioning in schizophrenia and autism using
WAIS-III
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Schizophrenia; Autism; Cognitive functioning; WAIS-III; Processing speed
ID WORKING-MEMORY IMPAIRMENTS; ONSET SCHIZOPHRENIA; DISORDER; ADULTS;
NEUROCOGNITION; METAANALYSIS; INDIVIDUALS; PERFORMANCE; INTERVIEW;
DEFICITS
AB The main goal of this study was to investigate differences and similarities in general cognitive functioning between adults with schizophrenia and autism, because this has not been systematically investigated. We used a cross-sectional design to compare adults with schizophrenia (n = 27), with autism (n = 114) and a healthy control group (n = 30). Schizophrenia diagnoses were based on the Structured Clinical Interview for the DSM-IV Axis I (SCID-I) and behavioral symptoms were assessed with the Positive and Negative Syndrome Scale (PANSS). Autism was diagnosed with a DSM-IV questionnaire for autism spectrum disorders and the Autistic Diagnostic Interview, revised version. The Wechsler Adult Intelligence Scale, third version (WAIS-III) was used to assess cognitive functions. All participants were between 18 and 65 years of age and had a minimum full scale intelligence of 80. Results showed that patients with schizophrenia scored significantly lower on processing speed than patients with autism and the healthy control group. Differences on other index scales were not found. In participants with schizophrenia a correlation was found between processing speed impairment and negative symptoms. Diagnosis could be predicted correctly with WAIS-III profile in 70.4% of the cases with schizophrenia compared to 56.7% of the healthy control group and 22.8% of the autism group. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [de Boer, Marion] Mental Hlth Inst GGZ Eindhoven, NL-5600 AX Eindhoven, Netherlands.
[Spek, Annelies A.] Mental Hlth Inst GGZ Eindhoven, Autism Dept, NL-5600 AX Eindhoven, Netherlands.
[Lobbestael, Jill] Maastricht Univ, Fac Psychol & Neurosci, NL-6200 MD Maastricht, Netherlands.
RP de Boer, M (reprint author), Mental Hlth Inst GGZ Eindhoven, POB 909,Dr Poletlaan 40, NL-5600 AX Eindhoven, Netherlands.
EM m.de.boer@ggze.nl; aa.spek@ggze.nl;
jill.lobbestael@maastrichtuniversity.nl
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NR 48
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 JUL
PY 2014
VL 8
IS 7
BP 737
EP 745
DI 10.1016/j.rasd.2014.03.001
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AI8UX
UT WOS:000337203600001
ER
PT J
AU Wang, HT
Koyama, T
AF Wang, Hui-Ting
Koyama, Takanori
TI An analysis and review of the literature and a three-tier video modeling
intervention model
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Review
DE Video modeling; Autism; Three-tier model
ID AUTISM SPECTRUM DISORDERS; CONVERSATION SKILLS; SOCIAL INITIATIONS;
PURCHASING SKILLS; PRETEND PLAY; IN-VIVO; CHILDREN; SELF; PRESCHOOLERS;
INSTRUCTION
AB Many video modeling (VM) studies for teaching learners with autism have been published. Most studies have investigated the effectiveness of intervention; however, not all learners with autism respond to intervention in the same manner, and not all families and educators can afford such treatments. It is equally critical to address the delivery type of VM and the resources and support involved. This paper had 2 purposes: first, to review and analyze the literature regarding the characteristics of VM intervention and the video components for assisting practice and research; second, to develop a 3-tier VM intervention model (self-administered generic VM, group-based instruction, and individually administered individualized VM), based on the delivery types of intervention and the allocation of resources and support to address the factors that influence learners. Seven intervention characteristics and 7 video components were identified, and implications for future research regarding the 3-tier model were discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Wang, Hui-Ting] Natl Taiwan Normal Univ, Taipei, Taiwan.
[Koyama, Takanori] Univ Washington, Seattle, WA 98195 USA.
RP Wang, HT (reprint author), Natl Taiwan Normal Univ, Taipei, Taiwan.
EM tinaw@ntnu.edu.tw
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NR 79
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 JUL
PY 2014
VL 8
IS 7
BP 746
EP 758
DI 10.1016/j.rasd.2014.03.010
PG 13
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AI8UX
UT WOS:000337203600002
ER
PT J
AU Lapenta, OM
Boggio, PS
AF Lapenta, Olivia Morgan
Boggio, Paulo Sergio
TI Motor network activation during human action observation and imagery: Mu
rhythm EEG evidence on typical and atypical neurodevelopment
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Review
DE Motor imagery; Action observation; Mu rhythm; Mirror neuron system;
Autism; EEG
ID MIRROR-NEURON SYSTEM; AUTISM SPECTRUM DISORDERS; EVENT-RELATED
SYNCHRONIZATION; HUMAN BRAIN; SIMULATION; CHILDREN; CORTEX;
DESYNCHRONIZATION; OSCILLATIONS; SUPPRESSION
AB The mental simulation theory suggests activation of the motor network during imagery and observation of human movements, similarly to the activation during action execution and is proposed to be mediated by the mirror neuron system. This activation can be measured by several technologies such as electroencephalography, magnetoencephalography, functional magnetic resonance imaging and positron emission tomography. It is proposed that motor network activation and therefore increased cortical excitability of primary motor cortex occur due to premotor mirror neuron system inputs. This mechanism has been demonstrated as important for planning actions and seems relevant for anticipating others actions and for empathy establishing as well as for language development. In this review we focused on studies relative to electroencephalography data of motor neural network activation during movement observation and imagery in typical and atypical development. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Lapenta, Olivia Morgan; Boggio, Paulo Sergio] Univ Prebiteriana Mackenzie, Ctr Hlth & Biol Sci, Social & Cognit Neurosci Lab, BR-01241001 Sao Paulo, Brazil.
RP Boggio, PS (reprint author), Univ Prebiteriana Mackenzie, Ctr Hlth & Biol, Social & Cognit Neurosci Lab & Dev Disorders Prog, Rua Piaui 181,100 Andar, BR-01241001 Sao Paulo, Brazil.
EM boggio@mackenzie.br
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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 JUL
PY 2014
VL 8
IS 7
BP 759
EP 766
DI 10.1016/j.rasd.2014.03.019
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AI8UX
UT WOS:000337203600003
ER
PT J
AU Ploog, BO
Brooks, PJ
Scharf, A
Aum, S
AF Ploog, Bertram O.
Brooks, Patricia J.
Scharf, Alexa
Aum, SangWeon
TI Perception of the prosody and content of sentences in an unfamiliar
language in children with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Receptive prosody; Language; Computer game; Attention;
Prioritization deficit hypothesis
ID HIGH-FUNCTIONING AUTISM; STIMULUS OVERSELECTIVITY; FACIAL EXPRESSIONS;
ADOLESCENTS; CUES; DISCRIMINATION; COMMUNICATION; COMPREHENSION;
PERFORMANCE; ATTENTION
AB Prior research suggests that children with autism spectrum disorders (ASD) show atypical patterns of attention to the prosody (intonation and emotional tone of voice) and content (words) of spoken sentences. Using a discrimination-choice procedure embedded in a custom-made videogame, we examined attention to these features of sentences in 15 children with ASD (ages 5 years, 5 months-18 years) and 15 age-matched typical controls (TYP). Using an unfamiliar language (German) to remove semantics, we assessed the role of meaning in promoting attention to content over prosody. As in a previous study with English sentences, TYP children attended to content to a greater extent than children with ASD while maintaining equivalent levels of discrimination based on prosody. However, in contrast to previous results, TYP children did not show a preference for enthusiastic over grouchy tone of voice, which suggests that the unfamiliar language rendered affective valence less salient. The results confirm intact perception of prosody in children with ASD, and a more selective pattern of attention to content in TYP children. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Ploog, Bertram O.; Brooks, Patricia J.] CUNY Coll Staten Isl, Staten Isl, NY 10314 USA.
[Ploog, Bertram O.; Brooks, Patricia J.] CUNY, Grad Ctr, New York, NY USA.
[Scharf, Alexa] Columbia Univ, Teachers Coll, New York, NY 10027 USA.
[Aum, SangWeon] Eden II Sch Autist Children Inc, Staten Isl, NY USA.
RP Ploog, BO (reprint author), CUNY Coll Staten Isl, Dept Psychol, 4S-108,2800 Victory Blvd, Staten Isl, NY 10314 USA.
EM bertram.ploog@csi.cuny.edu; patricia.brooks@csi.cuny.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Arciuli J, 2012, Q J EXP PSYCHOL, V65, P1288, DOI 10.1080/17470218.2012.655700
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NR 37
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 JUL
PY 2014
VL 8
IS 7
BP 775
EP 787
DI 10.1016/j.rasd.2014.03.014
PG 13
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AI8UX
UT WOS:000337203600005
ER
PT J
AU Nopprapun, M
Holloway, J
AF Nopprapun, Michael
Holloway, Jennifer
TI A comparison of fluency training and discrete trial instruction to teach
letter sounds to children with ASD: Acquisition and learning outcomes
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Fluency training (FT); Discrete trial instruction (DTI); Autism; Phonics
instruction
ID AUTISM SPECTRUM DISORDERS; BEHAVIORAL FLUENCY; OSHIELDS 2004; LITERACY;
INTERVENTIONS; INDIVIDUALS; KNOWLEDGE; STUDENTS; DOUGHTY; CHASE
AB The study investigated the efficacy of fluency training (FT) and discrete trial instruction (DTI) to teach phonic reading to individuals with Autism Spectrum Disorder (ASD), with particular emphasis on the acquisition of correct letter-sound correspondence and the learning outcomes of behavioural fluency instruction. An alternating-treatment design was employed to compare the treatment effects of FT versus DTI for the acquisition, retention, stability, endurance, and application of phonics in four children with ASD. The results showed that for two participants, FT was more efficient for the acquisition of correct letter-sound correspondence. For the remaining two participants, DTI resulted in more rapid acquisition. For all four participants, FT produced better results during post-test retention, endurance, stability, and application checks. The implications of these findings are discussed in relation to reading instruction, as well as the use of rate-building procedures with individuals with ASD. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Nopprapun, Michael; Holloway, Jennifer] Natl Univ Ireland, Galway, Ireland.
RP Holloway, J (reprint author), Natl Univ Ireland, Galway, Ireland.
EM jennifer.holloway@nuigalway.ie
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 44
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 JUL
PY 2014
VL 8
IS 7
BP 788
EP 802
DI 10.1016/j.rasd.2014.03.015
PG 15
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AI8UX
UT WOS:000337203600006
ER
PT J
AU Sawyer, A
Lake, JK
Lunsky, Y
Liu, SK
Desarkar, P
AF Sawyer, Amanda
Lake, Johanna K.
Lunsky, Yona
Liu, Shi-Kai
Desarkar, Pushpal
TI Psychopharmacological treatment of challenging behaviours in adults with
autism and intellectual disabilities: A systematic review
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Review
DE Autism; Adults; Challenging behaviours; Psychopharmacology; Intellectual
disability
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; PSYCHOTROPIC
MEDICATION; DOUBLE-BLIND; ADOLESCENTS; PATTERNS; RISPERIDONE;
PREVALENCE; PHARMACOTHERAPY; POPULATION
AB Introduction: Autism is a neurodevelopmental disorder with a high co-occurrence with intellectual disability. Adults with Autism and intellectual disability have a high incidence of challenging behaviour, defined as repetitive self injurious or aggressive behaviour. We underwent a systemic review of the evidence for treating challenging behaviours in adults with Autism and intellectual disability.
Methods: A literature search was conducted using three large databases to extract studies on the treatment of challenging behaviour among adults with Autism and intellectual disability. Papers, which met this criterion, were reviewed and analysed to assess study evidence and quality.
Results: Seven articles were selected which included five agents: fluvoxamine, sertraline, clomipramine, risperidone, and ziprasidone. Randomized control studies of fluvoxamine and risperidone, provided efficacy for the treatment of challenging behaviour in adults with Autism and intellectual disability. Open label trials of sertraline, clomipramine and ziprasidone were also effective in treating challenging behaviours for this population.
Discussion: Risperidone and fluvoxamine provided the best evidence for treating challenging behaviour, and risperidone was the only medication with multiple trials showing its efficacy. Further studies are required to demonstrate the efficacy of psychopharmacology in treating challenging behaviours among adults with Autism and intellectual disability. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Sawyer, Amanda; Lake, Johanna K.; Lunsky, Yona; Liu, Shi-Kai; Desarkar, Pushpal] Ctr Addict & Mental Hlth, Toronto, ON, Canada.
[Sawyer, Amanda; Lake, Johanna K.; Lunsky, Yona; Liu, Shi-Kai; Desarkar, Pushpal] Univ Toronto, Dept Psychiat, Toronto, ON M6J 1H4, Canada.
RP Desarkar, P (reprint author), Univ Toronto, Ctr Addict & Mental Hlth, 1001 Queen St West, Toronto, ON M6J 1H4, Canada.
EM pushpal.desarkar@utoronto.ca
CR Alexander RT, 2004, BRIT J DEV DISABIL, V50, P109
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NR 54
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 JUL
PY 2014
VL 8
IS 7
BP 803
EP 813
DI 10.1016/j.rasd.2014.03.021
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AI8UX
UT WOS:000337203600007
ER
PT J
AU Anzalone, SM
Tilmont, E
Boucenna, S
Xavier, J
Jouen, AL
Bodeau, N
Maharatna, K
Chetouani, M
Cohen, D
AF Anzalone, Salvatore Maria
Tilmont, Elodie
Boucenna, Sofiane
Xavier, Jean
Jouen, Anne-Lise
Bodeau, Nicolas
Maharatna, Koushik
Chetouani, Mohamed
Cohen, David
CA MICHELANGELO Study Grp
TI How children with autism spectrum disorder behave and explore the
4-dimensional (spatial 3D+time) environment during a joint attention
induction task with a robot
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Development; Social engagement; Joint
attention; Social robots
ID YOUNG-CHILDREN; SOCIAL ROBOTS; INDIVIDUALS; PEOPLE; CAREGIVERS;
IMITATION; TODDLERS; THERAPY; SPEECH; ORIENT
AB We aimed to compare, during a joint attention (JA) elicitation task, how children with autism spectrum disorder (ASD) and children with typical development (TD) behave and explore their 4 dimensional (meaning spatial 3D + time) when interacting with a human or with a robotic agent.
We built a system that employed a Nao robot and a perception system based on a RGB-D sensor (Kinect) to capture social engagement cues. A JA induction experiment was performed in which children with ASD (N = 16) and matched TD children (N = 16) had a 3-mm interaction with the robot or with a therapist. Nao induced JA by gazing; by gazing and pointing; and by gazing, pointing and vocalizing at pictures. Both groups of children performed well with the therapist. However, with Nao, both groups had lower JA scores, and the children with ASD had a significantly lower score than the TD children. We found that (i) multimodal JA induction was more efficient in both groups; (ii) the 3D spatial world gaze exploration showed less accuracy; and (iii) the trunk position in ASD showed less stability in the 4 dimensions compared to TD controls.
We conclude that, in ASD, JA skill depends on the interaction partner, and implies a higher motor and cognitive cost. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Anzalone, Salvatore Maria; Tilmont, Elodie; Boucenna, Sofiane; Jouen, Anne-Lise; Chetouani, Mohamed; Cohen, David] Univ Paris 06, Inst Syst Intelligents & Robot, F-75005 Paris, France.
[Tilmont, Elodie; Xavier, Jean; Bodeau, Nicolas; Cohen, David] Grp Hosp Pitie Salpetriere, AP HP, Dept Child & Adolescent Psychiat, F-75013 Paris, France.
[Tilmont, Elodie; Xavier, Jean; Bodeau, Nicolas; Cohen, David] Univ Paris 06, F-75013 Paris, France.
[Maharatna, Koushik] Univ Southampton, Southampton, Hants, England.
RP Anzalone, SM (reprint author), Univ Paris 06, Inst Syst Intelligents & Robot, Pyramide Tour 55,4 Pl Jussieu, F-75005 Paris, France.
EM anzalone@isir.upmc.fr
CR Bekele E., 2013, AUTISM
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NR 55
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 JUL
PY 2014
VL 8
IS 7
BP 814
EP 826
DI 10.1016/j.rasd.2014.03.002
PG 13
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AI8UX
UT WOS:000337203600008
ER
PT J
AU Kristen, S
Rossmann, F
Sodian, B
AF Kristen, Susanne
Rossmann, Franziska
Sodian, Beate
TI Theory of own mind and autobiographical memory in adults with ASD
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Theory of mind; Autobiographical memory; Autism Spectrum Disorder
ID AUTISM SPECTRUM DISORDER; HIGH-FUNCTIONING AUTISM; STRANGE STORIES TEST;
ASPERGER-SYNDROME; EPISODIC MEMORY; AUTONOETIC CONSCIOUSNESS;
SELF-AWARENESS; QUOTIENT AQ; CHILDREN; ADOLESCENTS
AB While there is solid evidence of other-related theory of mind (TOM) deficits in autism, there is less research addressing self-related ToM impairments. To date, relations between self-related ToM and other cognitive skills related to representing own mental states such as autobiographical memory have scarcely been investigated. Thus, the purpose of this study was to investigate the differential relations of self-and other-related theory of mind skills and autobiographical memory in n = 20 adults with Autism Spectrum Disorder and n = 20 matched controls using standardized measures. The overall results indicated a specific relation between recalled episodic autobiographical memories on the episodic and semantic autobiographical memory interview and the performance on the mind-mindedness for oneself task in adults with ASD, which proved to be largely independent of verbal and nonverbal IQ. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Kristen, Susanne; Rossmann, Franziska; Sodian, Beate] Univ Munich, D-80802 Munich, Germany.
RP Kristen, S (reprint author), Univ Munich, Dept Psychol, Leopoldstr 13, D-80802 Munich, Germany.
EM susanne.kristen@psy.lmu.de
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NR 71
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 JUL
PY 2014
VL 8
IS 7
BP 827
EP 837
DI 10.1016/j.rasd.2014.03.009
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AI8UX
UT WOS:000337203600009
ER
PT J
AU Kuo, CC
Liang, KC
Tseng, CC
Gau, SSF
AF Kuo, Ching-Chih
Liang, Keng-Chen
Tseng, Christine Chifen
Gau, Susan Shur-Fen
TI Comparison of the cognitive profiles and social adjustment between
mathematically and scientifically talented students and students with
Asperger's syndrome
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Mathematically and scientifically talented; Asperger's syndrome;
Cognitive profiles; Social adjustment; Overexcitability traits
ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; PSYCHOMETRIC PROPERTIES;
RESPONSIVENESS SCALE; DIAGNOSTIC INTERVIEW; CHINESE VERSION; CHILDREN;
INDIVIDUALS; ADOLESCENTS; OTHERS
AB This study compared the cognitive profiles and social adjustment of mathematically and scientifically talented (MST) students and students with Asperger's syndrome (AS) as compared to typically developing students. The applied instruments were the Wechsler Adult Intelligence Scale, 3rd version, Me Scale II, Social Responsiveness Scale (SRS), Adult Autism Spectrum Quotient (AQ), and autism diagnostic interview-revised. Eighty-four male students, aged 16-26, were assigned to four groups according to a talent in mathematics and science, diagnosis of AS, and the IQ level. The results showed that the high-IQ MST group exhibited balanced development in cognitive and affective aspects, the average-IQ MST group demonstrated weakness in perceptual organization and working memory, and problems with social awareness and socialness, and the AS group had weakness in performance IQ particularly in digit symbol-coding and symbol search and a wide-range of autistic-like social deficits (SRS) and autistic trait (AQ), and reported lower empathetic and higher emotional and creative overexcitability. Our findings support differential cognitive profiles and social adjustment between the MST and AS groups, and the influence of IQ on these manifestations in MST students. More attention should be paid to the social difficulty of average-IQ MST students in addition to AS students. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Kuo, Ching-Chih] Natl Taiwan Normal Univ, Dept Special Educ, Taipei 106, Taiwan.
[Liang, Keng-Chen; Gau, Susan Shur-Fen] Natl Taiwan Univ, Neurobiol & Cognit Sci Ctr, Dept Psychol, Taipei 100, Taiwan.
[Liang, Keng-Chen; Gau, Susan Shur-Fen] Natl Taiwan Univ, Grad Inst Brain & Mind Sci, Taipei 100, Taiwan.
[Tseng, Christine Chifen] Natl Taichung Univ Sci & Technol, Dept Appl English, Taichung 403, Taiwan.
[Gau, Susan Shur-Fen] Natl Taiwan Univ Hosp & Coll Med, Dept Psychiat, Taipei 100, Taiwan.
[Gau, Susan Shur-Fen] Natl Taiwan Univ, Sch Occupat Therapy, Coll Med, Taipei 100, Taiwan.
[Gau, Susan Shur-Fen] Natl Taiwan Univ, Grad Inst Clin Med, Coll Med, Taipei 100, Taiwan.
RP Gau, SSF (reprint author), Natl Taiwan Univ Hosp & Coll Med, Dept Psychiat, 7 Chung Shan South Rd, Taipei 10002, Taiwan.
EM gaushufe@ntu.edu.tw
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Xie Y. C., 2005, STUDY OVEREXCITABILI
NR 80
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 JUL
PY 2014
VL 8
IS 7
BP 838
EP 850
DI 10.1016/j.rasd.2014.04.004
PG 13
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AI8UX
UT WOS:000337203600010
ER
PT J
AU Hagenmuller, F
Rossler, W
Wittwer, A
Haker, H
AF Hagenmuller, Florence
Roessler, Wulf
Wittwer, Amrei
Haker, Helene
TI Empathic resonance in Asperger syndrome
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Salivation; Autism spectrum disorder; Perception-action link; Contagion;
Coping; Empathy
ID TORONTO-ALEXITHYMIA-SCALE; SPECTRUM DISORDER; SEX-DIFFERENCES; AUTISM;
INDIVIDUALS; SALIVATION; IMITATION; VOLUNTARY; CHILDREN; DEFICITS
AB Reports on theory-of-mind deficits have led to the common belief that autism spectrum disorders (ASD) are associated with a lack of empathy. Resonance is a basic empathy-related process, linking two interacting individuals at the physiological level. Findings in ASD have been inconclusive regarding basic empathy. We investigated resonance at the autonomic level - the salivation-inducing effect of watching a person eating a lemon. Salivation-induction was assessed in 29 individuals with ASD and 28 control participants. Cotton rolls placed in the mouth were weighed before and after the video stimulation. Orientation to the stimulus was assessed with eye-tracking, autistic and empathic traits through self-reports. Group comparisons revealed lower salivation-induction in individuals with ASD. Linear regressions revealed different predictors of induction in each group: self-reported empathic fantasizing and age in ASD versus self-reported empathic concern plus orientation to the stimulus' face in the control. In both groups the social component was relevant: in ASD in terms of intellectual involvement with social contents and in controls in terms of the mere presence of a social vis-A-vis. Individuals with ASD may use explicitly acquired intellectual strategies whereas individuals with typical development can rely on intuitive processes for social responsivity. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Hagenmuller, Florence] Univ Zurich, Hosp Psychiat, Dept Psychiat Psychotherapy & Psychosomat, CH-8021 Zurich, Switzerland.
[Hagenmuller, Florence; Roessler, Wulf; Wittwer, Amrei; Haker, Helene] Univ Zurich, Coll Helveticum, CH-8021 Zurich, Switzerland.
[Hagenmuller, Florence; Roessler, Wulf; Wittwer, Amrei; Haker, Helene] ETH, Zurich, Switzerland.
[Haker, Helene] Univ Zurich, Inst Biomed Engn, Translat Neuromodeling Unit, CH-8021 Zurich, Switzerland.
[Roessler, Wulf] Univ Sao Paulo, Inst Psychiat, Lab Neurosci LIM 27, Sao Paulo, Brazil.
RP Hagenmuller, F (reprint author), Univ Zurich, Hosp Psychiat, Dept Psychiat Psychotherapy & Psychosomat, POB 1930, CH-8021 Zurich, Switzerland.
EM florence.hagenmuller@dgsp.uzh.ch
CR American Psychiatric Association, 2013, DIAGNOSTIC AND STATI
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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 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD JUL
PY 2014
VL 8
IS 7
BP 851
EP 859
DI 10.1016/j.rasd.2014.04.008
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AI8UX
UT WOS:000337203600011
ER
PT J
AU Lang, R
Machalicek, W
Rispoli, M
O'Reilly, M
Sigafoos, J
Lancioni, G
Peters-Scheffer, N
Didden, R
AF Lang, Russell
Machalicek, Wendy
Rispoli, Mandy
O'Reilly, Mark
Sigafoos, Jeff
Lancioni, Giulio
Peters-Scheffer, Nienke
Didden, Robert
TI Play skills taught via behavioral intervention generalize, maintain, and
persist in the absence of socially mediated reinforcement in children
with autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Play; Stereotypy; Lag schedules; Behavioral intervention
ID YOUNG-CHILDREN; PRETEND PLAY; VERBAL RESPONSIVENESS; SPECTRUM DISORDERS;
SYMBOLIC PLAY; DISABILITIES; STEREOTYPY; LEISURE; LIFE; PRESCHOOLERS
AB We measured generalization, maintenance and parent reports of child happiness in the context of a behavioral intervention to teach toy-play skills to three young children with autism. Lag schedules of reinforcement were implemented for two participants whose play did not initially generalize. The play skills intervention was conducted within the participants' early childhood classroom and the utility of teaching play as a means to reduce stereotypy within this setting was also evaluated. A multiple baseline design across participants demonstrated that play taught via behavioral intervention may be maintained after programmed reinforcement is discontinued, generalize across settings and toys (i.e., response and stimulus generalization), and occasion a decrease in stereotypy. Further, the occurrence of play in the absence of socially mediated reinforcement suggested that play taught via behavioral interventions may come to be automatically reinforced. Finally, parent responses on rating scales suggested that two of the participants were happier, in a better mood, and were more interested in appropriate toy-play following behavioral intervention. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Lang, Russell] SW Texas State Univ, Clin Autism Res Evaluat & Support, San Marcos, TX 78666 USA.
[Machalicek, Wendy] Univ Oregon, Coll Educ, Eugene, OR 97403 USA.
[Rispoli, Mandy] Texas A&M Univ, Dept Educ Psychol, College Stn, TX 77843 USA.
[Lang, Russell; O'Reilly, Mark] Univ Texas Austin, Meadows Ctr Preventing Educ Risk, Austin, TX 78712 USA.
[Sigafoos, Jeff] Victoria Univ Wellington, Sch Educ Psychol, Wellington, New Zealand.
[Lancioni, Giulio] Univ Bari, Dept Neurosci & Sense Organs, Bari, Italy.
[Peters-Scheffer, Nienke; Didden, Robert] Radboud Univ Nijmegen, NL-6525 ED Nijmegen, Netherlands.
RP Lang, R (reprint author), Dept Curriculum & Instruct, 601 Univ Dr, San Marcos, TX 78666 USA.
EM russlang@txstate.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Barton EE, 2010, EXCEPT CHILDREN, V77, P85
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NR 55
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 JUL
PY 2014
VL 8
IS 7
BP 860
EP 872
DI 10.1016/j.rasd.2014.04.007
PG 13
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AI8UX
UT WOS:000337203600012
ER
PT J
AU Mishaal, RA
Ben-Itzchak, E
Zachor, DA
AF Mishaal, Ram A.
Ben-Itzchak, Esther
Zachor, Ditza A.
TI Age of autism spectrum disorder diagnosis is associated with child's
variables and parental experience
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder (ASD); Age of diagnosis; Social impairments;
Restricted and repetitive behaviors; Developmental regression; Adaptive
functioning; First born child
ID YOUNG-CHILDREN; FOLLOW-UP; REGRESSION; IDENTIFICATION; RECOGNITION;
RECURRENCE; BEHAVIORS; SEVERITY; SAMPLE; RISK
AB Early diagnosis of autism spectrum disorder (ASD) is highly important as it enables an early start to intervention. The current study examined familial (parental ages; education; having an older sibling) and child (gender; reported and observed autism symptoms severity; adaptive skills) related variables that might predict the age of ASD diagnosis. The study included 551 participants, age range 15-72 months, diagnosed with ASD who underwent comprehensive medical and behavioral assessment using standardized tests. Of the child's examined variables, the severity of the social interaction impairment reported by the parents and having a history of developmental regression was associated with an earlier age of ASD diagnosis. In contrast, the severity of the restricted and repetitive behaviors was associated with delayed age of ASD diagnosis. Vineland Adaptive Behavior Scales scores lower or higher than the group's mean (70 points) were associated with a relatively delayed age of ASD diagnosis. Of the familial variables, only having an older sibling was associated with an earlier diagnosis. Professionals should be aware that subtle signs of ASD, developmental delay and close to normal adaptive functioning might delay age of ASD diagnosis. Educating parents on "red flags" for ASD and periodic surveillance in early childhood are important. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Mishaal, Ram A.; Ben-Itzchak, Esther; Zachor, Ditza A.] Assaf Harofeh Med Ctr, Dept Pediat, Autism Ctr, IL-70300 Zerifin, Israel.
[Ben-Itzchak, Esther] Ariel Univ, Dept Commun Disorders, IL-40700 Ariel, Israel.
[Zachor, Ditza A.] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel.
RP Zachor, DA (reprint author), 12 Hatizmoret St, IL-55556 Kiryat Ono, Israel.
EM dzachor@asaf.health.gov.il
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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Zachor DA, 2011, RES DEV DISABIL, V32, P2950, DOI 10.1016/j.ridd.2011.05.007
NR 45
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 JUL
PY 2014
VL 8
IS 7
BP 873
EP 880
DI 10.1016/j.rasd.2014.04.001
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AI8UX
UT WOS:000337203600013
ER
PT J
AU Chien, YL
Gau, SSF
Chiu, YN
Tsai, WC
Shang, CY
Wu, YY
AF Chien, Yi-Ling
Gau, Susan Shur-Fen
Chiu, Yen-Nan
Tsai, Wen-Che
Shang, Chi-Yung
Wu, Yu-Yu
TI Impaired sustained attention, focused attention, and vigilance in youths
with autistic disorder and Asperger's disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autistic disorder; Asperger's disorder; ADHD; Oppositional symptoms;
Attention performance; Continuous performance test
ID DEFICIT HYPERACTIVITY DISORDER; PERVASIVE DEVELOPMENTAL DISORDERS;
HIGH-FUNCTIONING AUTISM; CONTINUOUS PERFORMANCE-TEST;
DEFICIT/HYPERACTIVITY DISORDER; PSYCHOMETRIC PROPERTIES; SPECTRUM
DISORDERS; CHINESE VERSION; EXECUTIVE FUNCTIONS; CHILDREN
AB The study compared the attention-deficit/hyperactivity disorder (ADHD) related clinical symptoms and a wide-ranging attention performance in 216 youths with autistic disorder (autism), 138 youths with Asperger's disorder (AD) and 255 typically-developing youths. The diagnosis of autism and AD were made based on the clinical assessments according to the DSM-IV criteria and confirmed by the Autism Diagnostic Interview-Revised. All the participants were assessed with the Conners' Continuous Performance Test (CCPT) and the questionnaires about ADHD, oppositional, and autistic symptoms. All indices of the CCPT were analyzed based on a recently developed factor structure, including focused attention, cognitive impulsivity, sustained attention, and vigilance. We found that compared with typically-developing youths, youths with autism and AD showed more inattentive, hyperactive/impulsive, and oppositional symptoms, and performed worse in focused attention and sustained attention as assessed by the CCPT. Youths with AD also showed more oppositional symptoms than youths with autism. Moreover, youths with autism had poorer focused attention than youths with AD; but, youths with AD had more impaired sustained attention. Our results validate different manifestations of ADHD-related symptoms and attention performance between youths with autism and youths with AD and suggest intervention for youths with autism spectrum disorders should consider these specific measures. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Chien, Yi-Ling; Gau, Susan Shur-Fen; Chiu, Yen-Nan; Tsai, Wen-Che; Shang, Chi-Yung] Natl Taiwan Univ Hosp & Coll Med, Dept Psychiat, Taipei 10002, Taiwan.
[Chien, Yi-Ling; Gau, Susan Shur-Fen] Natl Taiwan Univ, Coll Med, Grad Inst Brain & Mind Sci, Taipei 10764, Taiwan.
[Chien, Yi-Ling; Gau, Susan Shur-Fen] Natl Taiwan Univ, Coll Med, Grad Inst Clin Med, Taipei 10764, Taiwan.
[Wu, Yu-Yu] Chang Gung Univ, Coll Med, Linkou Med Ctr, Dept Psychiat,Chang Gung Mem Hosp, Taoyuan, Taiwan.
RP Gau, SSF (reprint author), Natl Taiwan Univ Hosp & Coll Med, Dept Psychiat, 7 Chung Shan South Rd, Taipei 10002, Taiwan.
EM gaushufe@ntu.edu.tw
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NR 63
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 JUL
PY 2014
VL 8
IS 7
BP 881
EP 889
DI 10.1016/j.rasd.2014.04.006
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AI8UX
UT WOS:000337203600014
ER
PT J
AU Goin-Kochel, RP
Esler, AN
Kanne, SM
Hus, V
AF Goin-Kochel, Robin P.
Esler, Amy N.
Kanne, Stephen M.
Hus, Vanessa
TI Developmental regression among children with autism spectrum disorder:
Onset, duration, and effects on functional outcomes
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Regression; Skill loss; Cognition; Adaptive
functioning; Outcomes
ID LANGUAGE; PHENOTYPE; PATTERNS
AB Studies using varied methods report that developmental regression occurs in a sizeable proportion of children with autism spectrum disorder (ASD). Findings are equivocal as to whether regression is associated with poorer cognitive and adaptive functioning. This study examined retrospective parent report in 2105 Simons Simplex Collection participants with ASD. Children were classified as having "full" or "subthreshold" losses on language and/or other skills using items from the Autism Diagnostic Interview-Revised (ADI-R) and a supplemental interview to capture more subtle regressions. Overall, 36.9% of children had some type of regression (27.8% language, 27.0% other-skill loss), with the supplemental interview capturing 11.7% of losses that would have been missed using the ADI-R alone. This figure is consistent with previous parent-report studies but lower than clinician-observed rates in prospective investigations. Early language losses either full or subthreshold and full other-skill losses appear to be associated with more deleterious outcomes by middle childhood. Findings may signify the need for more immediate and/or intense therapies for children who have even minor skill losses, particularly in language skills. Results further demonstrate the utility of an expanded set of additional queries with slightly modified criteria to capture such early, subtle losses. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Goin-Kochel, Robin P.; Kanne, Stephen M.] Texas Childrens Hosp, Baylor Coll Med, Autism Ctr, Houston, TX 77054 USA.
[Esler, Amy N.] Univ Minnesota, Autism Spectrum & Neurodev Disorders Clin, Minneapolis, MN 55414 USA.
[Hus, Vanessa] Univ Michigan, Dept Psychol, Ann Arbor, MI USA.
RP Goin-Kochel, RP (reprint author), Texas Childrens Hosp, Autism Ctr, 8080 N,Stadium Dr,Suite 180, Houston, TX 77054 USA.
EM kochel@bcm.edu; esle0007@umn.edu; kannest@health.missouri.edu;
vhus@umich.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 40
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 JUL
PY 2014
VL 8
IS 7
BP 890
EP 898
DI 10.1016/j.rasd.2014.04.002
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AI8UX
UT WOS:000337203600015
ER
PT J
AU Silverman, L
Hollway, JA
Smith, T
Aman, MG
Arnold, LE
Pan, XL
Li, XB
Handen, BL
AF Silverman, Laura
Hollway, Jill A.
Smith, Tristram
Aman, Michael G.
Arnold, L. Eugene
Pan, Xueliang
Li, Xiaobai
Handen, Benjamin L.
TI A multisite trial of atomoxetine and parent training in children with
autism spectrum disorders: Rationale and design challenges
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Review
DE Atomoxetine (Strattera); ADHD; Autism spectrum disorder; Drug trial;
Parent training
ID PERVASIVE DEVELOPMENTAL DISORDERS; ATTENTION-DEFICIT/HYPERACTIVITY
DISORDER; RANDOMIZED CONTROLLED-TRIAL; STIMULANT MEDICATION;
CLINICAL-TRIAL; YOUNG-PEOPLE; METHYLPHENIDATE; DISABILITIES;
ADOLESCENTS; HYPERACTIVITY
AB Several randomized controlled trials (RCTs) involving children with autism spectrum disorder (ASD) have examined effectiveness of mono-therapies for problem behavior. However, results have not been as encouraging as in typically developing children. For example, when prescribed stimulants, children with ASD and hyperactivity/inattentiveness, show only moderately reduced symptoms, with frequent side effects. Therefore, alternative treatments or combinations of treatments are needed. The Children's Hyperactivity and Autism Research Treatment Study (CHARTS) is a randomized clinical trial comparing the individual and combined effects of atomoxetine and parent training to treat hyperactivity, inattentiveness, and noncompliance in children with ASD. Design challenges included the overall study design, targeting of different outcomes by different treatments, and data analysis. This article details options for addressing a number of these methodological issues in the context of conducting a large multicenter RCT with an ASD population. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Silverman, Laura; Smith, Tristram] Univ Rochester, Med Ctr, Strong Ctr Dev Disabil, Rochester, NY 14642 USA.
[Hollway, Jill A.; Aman, Michael G.; Arnold, L. Eugene] Ohio State Univ, Nisonger Ctr Dev Disabil, Columbus, OH 43210 USA.
[Handen, Benjamin L.] Univ Pittsburgh, Med Ctr, Merck Program, Pittsburgh, PA 15203 USA.
[Pan, Xueliang; Li, Xiaobai] Ohio State Univ, Ctr Biostat, Columbus, OH 43221 USA.
RP Handen, BL (reprint author), Univ Pittsburgh, Med Ctr, Merck Program, 1011 Bingham St, Pittsburgh, PA 15203 USA.
EM handenbl@upmc.edu
CR Abikoff H, 2004, J AM ACAD CHILD PSY, V43, P802, DOI 10.1097/01.chi.0000128791.10014.ac
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NR 44
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 JUL
PY 2014
VL 8
IS 7
BP 899
EP 907
DI 10.1016/j.rasd.2014.03.013
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AI8UX
UT WOS:000337203600016
ER
PT J
AU Hanley, M
Riby, DM
McCormack, T
Carty, C
Coyle, L
Crozier, N
Robinson, J
McPhillips, M
AF Hanley, Mary
Riby, Deborah M.
McCormack, Teresa
Carty, Clare
Coyle, Lisa
Crozier, Naomi
Robinson, Johanna
McPhillips, Martin
TI Attention during social interaction in children with autism: Comparison
to specific language impairment, typical development, and links to
social cognition
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Specific language impairment; Eye-tracking; Social interaction;
Implicit mentalising
ID SPECTRUM DISORDERS; WILLIAMS-SYNDROME; EYE-MOVEMENTS; COMMUNICATION
IMPAIRMENTS; ATYPICAL DEVELOPMENT; GAZE AVERSION; TRACKING; FACES; MIND;
INDIVIDUALS
AB Eye-tracking studies have shown how people with autism spend significantly less time looking at socially relevant information on-screen compared to those developing typically. This has been suggested to impact on the development of socio-cognitive skills in autism. We present novel evidence of how attention atypicalities in children with autism extend to real-life interaction, in comparison to typically developing (TD) children and children with specific language impairment (SLI). We explored the allocation of attention during social interaction with an interlocutor, and how aspects of attention (awareness checking) related to traditional measures of social cognition (false belief attribution). We found divergent attention allocation patterns across the groups in relation to social cognition ability. Even though children with autism and SLI performed similarly on the socio-cognitive tasks, there were syndrome-specific atypicalities of their attention patterns. Children with SLI were most similar to TD children in terms of prioritising attention to socially pertinent information (eyes, face, awareness checking). Children with autism showed reduced attention to the eyes and face, and slower awareness checking. This study provides unique and timely insight into real-world social gaze (a)typicality in autism, SLI and typical development, its relationship to socio-cognitive ability, and raises important issues for intervention. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Hanley, Mary; Riby, Deborah M.] Univ Durham, Dept Psychol, Durham DH1 3LE, England.
[McCormack, Teresa; Carty, Clare; Coyle, Lisa; Crozier, Naomi; Robinson, Johanna; McPhillips, Martin] Queens Univ Belfast, Sch Psychol, Belfast BT7 1NN, Antrim, North Ireland.
RP Hanley, M (reprint author), Univ Durham, Dept Psychol, Sci Labs, S Rd, Durham DH1 3LE, England.
EM mary.hanley@durham.ac.uk
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NR 63
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 JUL
PY 2014
VL 8
IS 7
BP 908
EP 924
DI 10.1016/j.rasd.2014.03.020
PG 17
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AI8UX
UT WOS:000337203600017
ER
PT J
AU Jang, JN
Matson, JL
Cervantes, PE
Konst, MJ
AF Jang, Jina
Matson, Johnny L.
Cervantes, Paige E.
Konst, Matthew J.
TI The relationship between ethnicity and age of first concern in toddlers
with autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; First concern; Ethnicity/race
ID INTENSIVE BEHAVIORAL INTERVENTION; PERVASIVE DEVELOPMENTAL DISORDER;
YOUNG-CHILDREN; FOLLOW-UP; PDD-NOS; DIAGNOSIS; INFANTS; RECOGNITION;
ASD; DISABILITIES
AB The current study examined the relationship between ethnicity and the age at which parents first become concerned about their children's development in 1478 toddlers with autism spectrum disorder (ASD) and atypical development. Based on the current findings, there were no racial/ethnic differences in age of parent's first concerns. Caregivers of toddlers with ASD first developed concerns around the same time independent of which ethnic groups they belong to. In addition, the age of caregivers' first concerns was significantly younger for those with ASD compared to those who are atypically developing without an ASD diagnosis. Implications regarding these findings are discussed. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Jang, Jina; Matson, Johnny L.; Cervantes, Paige E.; Konst, Matthew J.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Jang, JN (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM jinajang87@gmail.com
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 65
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 JUL
PY 2014
VL 8
IS 7
BP 925
EP 932
DI 10.1016/j.rasd.2014.04.003
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AI8UX
UT WOS:000337203600018
ER
PT J
AU Klein, BY
Tamir, H
Hirschberg, DL
Glickstein, SB
Ludwig, RJ
Welch, MG
AF Klein, Benjamin Y.
Tamir, Hadassah
Hirschberg, David L.
Glickstein, Sara B.
Ludwig, Robert J.
Welch, Martha G.
TI Oxytocin modulates markers of the unfolded protein response in Caco2BB
gut cells
SO CELL STRESS & CHAPERONES
LA English
DT Article
DE Autism spectrum disorder; Inflammatory bowel disease (IBD); Crohn's
disease; Ulcerative colitis; Signaling; Translation factors; X-box
protein 1; Simon
ID ENDOPLASMIC-RETICULUM STRESS; INITIATION-FACTOR EIF2-ALPHA;
INFLAMMATORY-BOWEL-DISEASE; ER STRESS; TRANSLATIONAL CONTROL; MAMMALIAN
TARGET; MESSENGER-RNA; INTESTINAL EPITHELIUM; TRANSCRIPTION FACTOR;
AUTISTIC DISORDER
AB We have shown that oxytocin receptor (OTR) expression in neonatal rat enterocytes is robust from birth to weaning, but OTR function during this period is unknown. We previously reported that oxytocin (OT) stimulation of Caco2BB cells (enterocytes in vitro) inhibits the mammalian target of rapamycin complex 1 (mTORC1) signaling. The unfolded protein response (UPR) is known to protectively reduce translation during endoplasmic reticulum (ER) stress. Because the mTORC1 pathway is linked to cellular stress, we investigated markers of UPR in OT-stimulated Caco2BB cells. We report that OT modulates several factors involved in sensing and translation of ER stress. High OT (62.5 nM) reduced translation initiation factor 4E-BP1 phosphorylation (Ser65), which is known to inhibit cap-dependent translation via its rate-limiting eukaryotic translation initiation factor 4E (eIF4E). Importantly, high OT increased phosphorylation of eukaryotic translation initiation factor 2a (eIF2a) phospho-Ser51, which inhibits eIF2a. High OT also increased protein kinase RNA-like endoplasmic reticulum kinase phosphorylation, a sensor of ER stress and a kinase of eIF2a. Both high and low OT activated inositol requiring enzyme1 (IRE1), which generates the transcription factor X-box binding protein 1 (XBP1) and induces the UPR. We also show that OT modulates XBP1 splicing and induces tribbles 3 (TRIB3; a negative regulator of Akt and protein involved in autophagy) and immunoglobulin binding protein (BiP; ER-chaperone). Taken together, these results indicate that OT modulates sensors of ER stress and autophagy. These findings support our hypothesis that transiently elevated OTR expression in neonatal gut may serve a protective function during a critical postnatal developmental period.
C1 [Klein, Benjamin Y.; Ludwig, Robert J.; Welch, Martha G.] Columbia Univ Coll Phys & Surg, Dept Psychiat, New York, NY 10032 USA.
[Tamir, Hadassah; Hirschberg, David L.; Welch, Martha G.] Columbia Univ Coll Phys & Surg, Dept Pathol & Cell Biol, New York, NY 10032 USA.
[Hirschberg, David L.] Columbia Univ Coll Phys & Surg, Ctr Infect & Immunol, New York, NY 10032 USA.
[Tamir, Hadassah] New York State Psychiat Inst & Hosp, Div Mol Imaging & Neuropathol, New York, NY 10032 USA.
[Glickstein, Sara B.] EB Sci, Oakland, CA 94611 USA.
[Klein, Benjamin Y.; Welch, Martha G.] New York State Psychiat Inst & Hosp, New York, NY 10032 USA.
RP Klein, BY (reprint author), New York State Psychiat Inst & Hosp, 1051 Riverside Dr,Unit 40, New York, NY 10032 USA.
EM bk2348@columbia.edu; mgw13@columbia.edu
FU Einhorn Family Charitable Trust [UL1 RR024156]
FX We thank Chris Heger for Simon (TM) automated western blotting
consultation and analysis, as well as with help in manuscript
preparation. We thank Maurice Manning for supplying the oxytocin
antagonist. The research was funded by the Einhorn Family Charitable
Trust (UL1 RR024156).
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NR 56
TC 0
Z9 0
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 1355-8145
EI 1466-1268
J9 CELL STRESS CHAPERON
JI Cell Stress Chaperones
PD JUL
PY 2014
VL 19
IS 4
BP 465
EP 477
DI 10.1007/s12192-013-0473-4
PG 13
WC Cell Biology
SC Cell Biology
GA AI6IK
UT WOS:000336976100002
PM 24198165
ER
PT J
AU Modi, ME
Connor-Stroud, F
Landgraf, R
Young, LJ
Parr, LA
AF Modi, Meera E.
Connor-Stroud, Fawn
Landgraf, Rainer
Young, Larry J.
Parr, Lisa A.
TI Aerosolized oxytocin increases cerebrospinal fluid oxytocin in rhesus
macaques
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Article
DE Oxytocin; Vasopressin; Social cognition; Intranasal; Autism; Rhesus
monkey
ID AUTISM SPECTRUM DISORDERS; INTRANASAL OXYTOCIN; VASOPRESSIN RELEASE;
PLASMA OXYTOCIN; SOCIAL-BEHAVIOR; BRAIN; NASAL; BLOOD; NEUROPEPTIDES;
INTRANUCLEAR
AB Intranasal (IN) administration is a widely used method for examining the effect of oxytocin (OT) on social behavior and cognition in healthy subjects and psychiatric populations. IN-OT in humans enhances trust, emotional perception, and empathetic behavior and is under investigation as a potential pharmacotherapy to enhance social functioning in a variety of neuropsychiatric disorders, including autism spectrum disorders (ASD). Nonhuman primates (NHP) are an important model for understanding the effect of OT on social cognition, its neural mechanisms, and the development of IN-OT as a pharmacotherapy for treating social deficits in humans. However, NHP and even some human populations, such as very young infants and children, cannot easily follow the detailed self-administration protocol used in the majority of human IN-OTstudies. Therefore, we evaluated the efficacy of several OT-administration routes for elevating central OT concentrations in rhesus macaques. First, we examined the effect of IN and intravenous (IV) routes of OT administration on concentrations of OT and vasopressin (AVP) in plasma and lumbar CSF. Second, we examined these same measures in monkeys after an aerosolized (AE) OT delivery route. All three administration routes significantly increased plasma OT concentrations, but only the AE-OT route significantly increased concentrations of CSF OT. No route affected concentrations of AVP in plasma or CSF. This study confirms that the AE route is the most effective method for increasing central OT concentrations in monkeys, and may also be an effective route, alternative to IN, for administering OT to some human populations. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Modi, Meera E.; Young, Larry J.; Parr, Lisa A.] Emory Univ, Silvio O Conte Ctr Oxytocin & Social Cognit, Ctr Translat Social Neurosci, Dept Psychiat & Behav Sci, Atlanta, GA USA.
[Modi, Meera E.; Connor-Stroud, Fawn; Young, Larry J.; Parr, Lisa A.] Emory Univ, Yerkes Natl Primate Res Ctr, Atlanta, GA USA.
[Landgraf, Rainer] Max Planck Inst Psychiat, D-80804 Munich, Germany.
RP Modi, ME (reprint author), 610 Main St, Cambridge, MA 02139 USA.
EM meera.modi@pfizer.com
FU NSF Center for Behavioral Neuroscience Pilot Grant (LAP); Emory
Neuroscience Initiative Seed Grant; Center for Translational Social
Neuroscience Pilot Grant; NIH [MH068791, MH064692, P50MH100023];
National Center for Research Resources YNPRC [P51RR165]; Office of
Research Infrastructure Programs/OD [P510D11132]
FX The authors would like to thank the YNPRC veterinary staff for their
vital participation in the collection of samples and Dr. Mar Sanchez for
her advice and assistance. We would also like to acknowledge funding
support from NSF Center for Behavioral Neuroscience Pilot Grant (LAP),
Emory Neuroscience Initiative Seed Grant (MEM, LJY, LAP), Center for
Translational Social Neuroscience Pilot Grant (LAP, LJY), NIH MH068791
(LAP) and MH064692 (LJY), P50MH100023 (LJY and LAP) and National Center
for Research Resources P51RR165 to YNPRC, which is currently supported
by the Office of Research Infrastructure Programs/OD P510D11132.
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NR 44
TC 5
Z9 5
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0306-4530
J9 PSYCHONEUROENDOCRINO
JI Psychoneuroendocrinology
PD JUL
PY 2014
VL 45
BP 49
EP 57
DI 10.1016/j.psyneuen.2014.02.011
PG 9
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AI8WY
UT WOS:000337208900006
PM 24845176
ER
PT J
AU Freeman, SM
Inoue, K
Smith, AL
Goodman, MM
Young, LJ
AF Freeman, Sara M.
Inoue, Kiyoshi
Smith, Aaron L.
Goodman, Mark M.
Young, Larry J.
TI The neuroanatomical distribution of oxytocin receptor binding and mRNA
in the male rhesus macaque (Macaca mulatta)
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Article
DE Oxytocin receptor; Neuropeptide; Neuroanatomy; Nonhuman primate; Autism
ID PEDUNCULOPONTINE TEGMENTAL NUCLEUS; GUIDED SACCADE TASKS; SUPERIOR
COLLICULUS; SOCIAL-BEHAVIOR; MICROTUS-OCHROGASTER; INTRANASAL OXYTOCIN;
PRIMATE BRAIN; VASOPRESSIN; NEURONS; EXPRESSION
AB The rhesus macaque (Macaca mulatta) is an important primate model for social cognition, and recent studies have begun to explore the impact of oxytocin on social cognition and behavior. Macaques have great potential for elucidating the neural mechanisms by which oxytocin modulates social cognition, which has implications for oxytocin-based pharmacotherapies for psychiatric disorders such as autism and schizophrenia. Previous attempts to localize oxytocin receptors (OXTR) in the rhesus macaque brain have failed due to reduced selectivity of radioligands, which in primates bind to both OXTR and the structurally similar vasopressin la receptor (AVPR1A). We have developed a pharmacologically-informed competitive binding autoradiography protocol that selectively reveals OXTR and AVPR1A binding sites in primate brain sections. Using this protocol, we describe the neuroanatomical distribution of OXTR in the macaque. Finally, we use in situ hybridization to localize OXTR mRNA. Our results demonstrate that OXTR expression in the macaque brain is much more restricted than AVPR1A. OXTR is largely limited to the nucleus basalis of Meynert, pedunculopontine tegmental nucleus, the superficial gray layer of the superior colliculus, the trapezoid body, and the ventromedial hypothalamus. These regions are involved in a variety of functions relevant to social cognition, including modulating visual attention, processing auditory and multimodal sensory stimuli, and controlling orienting responses to visual stimuli. These results provide insights into the neural mechanisms by which oxytocin modulates social cognition and behavior in this species, which, like humans, uses vision and audition as the primary modalities for social communication. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Freeman, Sara M.; Inoue, Kiyoshi; Smith, Aaron L.; Young, Larry J.] Emory Univ, Yerkes Natl Primate Res Ctr, Silvio O Conte Ctr Oxytocin & Social Cognit, Dept Psychiat & Behav Sci,Ctr Translat Social Neu, Atlanta, GA 30029 USA.
[Smith, Aaron L.; Goodman, Mark M.] Emory Univ, Dept Radiol & Imaging Sci, Atlanta, GA 30029 USA.
RP Freeman, SM (reprint author), Univ Calif Davis, Calif Natl Primate Res Ctr BMB, One Shields Ave, Davis, CA 95616 USA.
EM smfreem@ucdavis.edu
FU NIH grants [MH090776, 1P50MH100023]; Office of Research Infrastructure
Programs/OD [P510D011132, P51RR000165]; [T32MH073525-06]
FX This work was supported by NIH grants MH090776 and 1P50MH100023 to
L.J.Y. Training support for S.M.F was provided by T32MH073525-06.
Additional support was provided by Office of Research Infrastructure
Programs/OD P510D011132 (formerly NCRR P51RR000165) to YNPRC.
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NR 70
TC 9
Z9 9
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0306-4530
J9 PSYCHONEUROENDOCRINO
JI Psychoneuroendocrinology
PD JUL
PY 2014
VL 45
BP 128
EP 141
DI 10.1016/j.psyneuen.2014.03.023
PG 14
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AI8WY
UT WOS:000337208900014
PM 24845184
ER
PT J
AU Renoux, AJ
Sala-Hamrick, KJ
Carducci, NM
Frazer, M
Halsey, KE
Sutton, MA
Dolan, DF
Murphy, GG
Todd, PK
AF Renoux, A. J.
Sala-Hamrick, K. J.
Carducci, N. M.
Frazer, M.
Halsey, K. E.
Sutton, M. A.
Dolan, D. F.
Murphy, G. G.
Todd, P. K.
TI Impaired sensorimotor gating in Fmr1 knock out and Fragile X premutation
model mice
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Fragile X; Premutation carrier; Prepulse inhibition; Sensorimotor gating
ID PREPULSE INHIBITION; STARTLE RESPONSE; HEARING-LOSS;
BEHAVIORAL-PHENOTYPE; MENTAL-RETARDATION; C57BL/6J MICE; MOUSE MODEL;
AUTISM; ABNORMALITIES; PLASTICITY
AB Fragile X syndrome (FXS) is a common inherited cause of intellectual disability that results from a CGG repeat expansion in the FMR1 gene. Large repeat expansions trigger both transcriptional and translational suppression of Fragile X protein (FMRP) production. Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is an allelic neurodegenerative disease caused by smaller "pre-mutation" CGG repeat expansions that enhance FMR1 transcription but lead to translational inefficiency and reduced FMRP expression in animal models. Sensorimotor gating as measured by pre-pulse inhibition (PPI) is altered in both FXS patients and Fmr1 knock out (KO) mice. Similarly, FXTAS patients have demonstrated PPI deficits. Recent work suggests there may be overlapping synaptic defects between Fmr1 KO and CGG knock-in premutation mouse models (CGG KI). We therefore sought to interrogate PPI in CGG 10 mice. Using a quiet PPI protocol more akin to human testing conditions, we find that Fmr1 KO animals have significantly impaired PPI. Using this same protocol, we find CGG KI mice demonstrate an age-dependent impairment in PPI compared to wild type (WT) controls. This study describes a novel phenotype in CGG KI mice that can be used in future therapeutic development targeting premutation associated symptoms. Published by Elsevier B.V.
C1 [Halsey, K. E.; Dolan, D. F.] Kresge Hearing Res Inst, Dept Otolaryngol Head & Neck Surg, Ann Arbor, MI USA.
[Sutton, M. A.; Murphy, G. G.] Mol & Behav Neurosci Inst, Ann Arbor, MI USA.
RP Todd, PK (reprint author), Univ Michigan, Ann Arbor, MI 48109 USA.
EM petertod@umich.edu
FU National Institutes of Mental Health [F31MH097451]; National Fragile X
Foundation
FX We thank Peter Ghisleni for technical assistance. CGG KI mice were
donated by Karen Usdin (NIH). Fmr1 KO mice were obtained from Cara
Westmark (University of Wisconsin) and Jim Malter (UT Southwestern).
This work was supported by the National Institutes of Mental Health
(F31MH097451) to AJR; the National Fragile X Foundation student
fellowship to MF; core testing facilities provided by NIH (P30 DC05188)
to KEH and DFD; National Institute on Aging (R01AG028488) to GGM; and by
the Veterans Administration (BLRD #1I01BX001689) and NIH (1K08NS069809)
to PKT.
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NR 28
TC 1
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 JUL 1
PY 2014
VL 267
BP 42
EP 45
DI 10.1016/j.bbr.2014.03.013
PG 4
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AI2UK
UT WOS:000336713400007
PM 24657592
ER
PT J
AU Dejanovic, BL
Lal, D
Catarino, CB
Arjune, S
Belaidi, AA
Trucks, H
Vollmar, C
Surges, R
Kunz, WS
Motameny, S
Altmuller, J
Kohler, A
Neubauer, BA
Nurnberg, P
Noachtar, S
Schwarz, G
Sander, T
AF Dejanovic, Boris Lav
Lal, Dennis
Catarino, Claudia B.
Arjune, Sita
Belaidi, Abdel A.
Trucks, Holger
Vollmar, Christian
Surges, Rainer
Kunz, Wolfram S.
Motameny, Susanne
Altmueller, Janine
Koehler, Anna
Neubauer, Bernd A.
Nuernberg, Peter
Noachtar, Soheyl
Schwarz, Gunter
Sander, Thomas
CA EPICURE Consortium
TI Exonic microdeletions of the gephyrin gene impair GABAergic synaptic
inhibition in patients with idiopathic generalized epilepsy
SO NEUROBIOLOGY OF DISEASE
LA English
DT Article
DE Idiopathic generalized epilepsy; Microdeletion; GPHN; Gephyrin
ID MOLYBDENUM COFACTOR DEFICIENCY; TRANSCRANIAL MAGNETIC STIMULATION;
CLUSTERING PROTEIN GEPHYRIN; MOTOR CORTEX EXCITABILITY; GABA(A) RECEPTOR
SUBTYPES; DIRECT BINDING; NEURODEVELOPMENTAL DISEASE; 16P13.11
PREDISPOSE; GAMMA-2 SUBUNIT; DOWN-REGULATION
AB Gephyrin is a postsynaptic scaffolding protein, essential for the clustering of glycine and gamma-aminobutyric acid type-A receptors (GABA(A)Rs) at inhibitory synapses. An impairment of GABAergic synaptic inhibition represents a key pathway of epileptogenesis. Recently, exonic microdeletions in the gephyrin (GPHN) gene have been associated with neurodevelopmental disorders including autism spectrum disorder, schizophrenia and epileptic seizures. Here we report the identification of novel exonic GPHN microdeletions in two patients with idiopathic generalized epilepsy (ICE), representing the most common group of genetically determined epilepsies. The identified GPHN microdeletions involve exons 5-9 (Delta 5-9) and 2-3 (Delta 2-3), both affecting the gephyrin G-domain. Molecular characterization of the GPHN Delta 5-9 variant demonstrated that it perturbs the clustering of regular gephyrin at inhibitory synapses in cultured mouse hippocampal neurons in a dominant-negative manner, resulting in a significant loss of gamma(2)-subunit containing GABAARs. GPHN Delta 2-3 causes a frameshift resulting in a premature stop codon (p.V22Gfs*7) leading to haplo-insufficiency of the gene. Our results demonstrate that structural exonic microdeletions affecting the GPHN gene constitute a rare genetic risk factor for IGE and other neuropsychiatric disorders by an impairment of the GABAergic inhibitory synaptic transmission. (C) 2014 Published by Elsevier Inc.
C1 [Dejanovic, Boris Lav; Arjune, Sita; Belaidi, Abdel A.; Koehler, Anna; Schwarz, Gunter] Univ Cologne, Inst Biochem, Dept Chem, D-50674 Cologne, Germany.
[Lal, Dennis; Trucks, Holger; Motameny, Susanne; Altmueller, Janine; Nuernberg, Peter; Sander, Thomas] Univ Cologne, CCG, D-50931 Cologne, Germany.
[Lal, Dennis; Schwarz, Gunter] Univ Cologne, Cologne Excellence Cluster Cellular Stress Respon, D-50674 Cologne, Germany.
[Lal, Dennis; Neubauer, Bernd A.] Univ Med Ctr Giessen & Marburg, Dept Neuropediat, D-35392 Giessen, Germany.
[Vollmar, Christian; Noachtar, Soheyl] Univ Munich, Dept Neurol, Epilepsy Ctr, D-81377 Munich, Germany.
[Surges, Rainer; Kunz, Wolfram S.] Univ Clin Bonn, Dept Epileptol, D-53105 Bonn, Germany.
[Nuernberg, Peter; Schwarz, Gunter] Univ Cologne, Ctr Mol Med CMMC, D-50931 Cologne, Germany.
RP Schwarz, G (reprint author), Univ Cologne, Inst Biochem, Zulpicher Str 47, D-50674 Cologne, Germany.
EM gschwarz@uni-koeln.de; thomas.sander@uni-koeln.de
RI baykan, betul/J-5307-2014; Catarino, Claudia/A-7719-2010
OI Catarino, Claudia/0000-0002-6528-7570
FU European Community [LSHM-CT-2006-037315]; German Research Foundation
(DFG) [NE416/5-1, SA434/5-1, NU50/8-1]; German Federal Ministry of
Education and Research; National Genome Research Network [NGENplus:
EMINet] [01GS08120, 01GS08121, 01DL12011]; PopGenbiobank; Center for
Molecular Medicine Cologne; Fonds der Chemischen Industrie; Helmholtz
Zentrum Munchen-German Research Center for Environmental Health; State
of Bavaria; Munich Center of Health Sciences (MC Health) as part of
LMUinnovativ; [SFB635]
FX This work was supported by grants from the European Community [FP6
Integrated Project EPICURE, grant LSHM-CT-2006-037315 to T.S.], the
German Research Foundation (DFG) within the EUROCORES Programme
EuroEPINOMICS [grants NE416/5-1 to B.N., SA434/5-1 to T.S., NU50/8-1 to
P.N.], the SFB635 [grant All to G.S.]; the German Federal Ministry of
Education and Research, National Genome Research Network [NGENplus:
EMINet, grants 01GS08120 to T.S., and 01GS08121 to P.N.; IntenC, grant
01DL12011 to T.S.]: the PopGen biobank [grant to A.F.],the Center for
Molecular Medicine Cologne [to G.S.] and the Fonds der Chemischen
Industrie [to G.S.]. The PopGen project received infrastructure support
through the German Research Foundation excellence cluster "Inflammation
at Interfaces". The KORA research platform (KORA, Cooperative Research
in the Region of Augsburg) was initiated and financed by the Helmholtz
Zentrum Munchen-German Research Center for Environmental Health, which
is funded by the German Federal Ministry of Education and Research and
by the State of Bavaria; this research was supported within the Munich
Center of Health Sciences (MC Health) as part of LMUinnovativ.
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NR 48
TC 5
Z9 5
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0969-9961
EI 1095-953X
J9 NEUROBIOL DIS
JI Neurobiol. Dis.
PD JUL
PY 2014
VL 67
BP 88
EP 96
DI 10.1016/j.nbd.2014.02.001
PG 9
WC Neurosciences
SC Neurosciences & Neurology
GA AH9PU
UT WOS:000336475100010
PM 24561070
ER
PT J
AU Ben-Sasson, A
Gill, SV
AF Ben-Sasson, Ayelet
Gill, Simone V.
TI Motor and language abilities from early to late toddlerhood: Using
formalized assessments to capture continuity and discontinuity in
development
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE MSEL; Developmental tests; Developmental change; Toddler; Discontinuity;
ASD
ID AUTISM SPECTRUM DISORDER; FOLLOW-UP; CHILDREN; INFANTS; STABILITY;
CHILDHOOD; VARIABILITY; OUTCOMES; RISK
AB Developmental tests reflect the premise that decreases in skills over time should be a sign of atypical development. In contrast, from a psychological perspective, discontinuity may be viewed as a normal part of typical development. This study sought to describe the variability in patterns of continuity and discontinuity in developmental scores over time. Seventy-six toddlers (55% boys) from a larger screening study were evaluated at 13 and 30 months using the Mullen Scales of Early Development (MSEL) in five areas: gross motor, fine motor, visual perception, receptive language, and expressive language. Parents completed the First Year Inventory (FYI) at 12 months as well. At 30 months, 23.68% of the sample received a clinical diagnosis (e.g., developmental delay, autism spectrum disorder [ASD]). Toddlers were classified as stable, increasing, or decreasing by at least 1.5 standard deviations (SD) on their scores in each of the five MSEL areas from 13 to 30 months. Between 3.9% and 51.3% of the sample was classified as increasing and 0-23.7% as decreasing across areas. Decreases in motor areas were associated with increases in language areas. None of the toddlers showed decreases greater than 1.5 SD on their MSEL composite scores. There was no single pattern that characterized a certain diagnosis. Higher FYI sensory-regulatory risk was associated with decreases in gross motor. Lower FYI risk was linked with increases in receptive language. Developmental discontinuity in specific developmental areas was the rule rather than the exception. Interpretations of decreases in developmental levels must consider concurrent increases in skill during this emerging period. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Ben-Sasson, Ayelet] Univ Haifa, Fac Social Welf & Hlth Sci, Dept Occupat Therapy, IL-31905 Haifa, Israel.
[Gill, Simone V.] Boston Univ, Coll Hlth & Rehabil Sci, Sargent Coll, Dept Occupat Therapy, Boston, MA 02215 USA.
RP Ben-Sasson, A (reprint author), Univ Haifa, Fac Social Welf & Hlth Sci, Dept Occupat Therapy, IL-31905 Haifa, Israel.
EM asasson@univ.haifa.ac.il
CR Adolph KE, 2008, PSYCHOL REV, V115, P527, DOI 10.1037/0033-295X.115.3.527
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Center for Disease Control, 2013, AUST SPECTR DIS ASDS
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NR 38
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 JUL
PY 2014
VL 35
IS 7
BP 1425
EP 1432
DI 10.1016/j.ridd.2014.03.036
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AH3GK
UT WOS:000336011500001
PM 24751905
ER
PT J
AU Ouyang, LJ
Grosse, SD
Riley, C
Bolen, J
Bishop, E
Raspa, M
Bailey, DB
AF Ouyang, Lijing
Grosse, Scott D.
Riley, Catharine
Bolen, Julie
Bishop, Ellen
Raspa, Melissa
Bailey, Donald B., Jr.
TI A comparison of family financial and employment impacts of fragile X
syndrome, autism spectrum disorders, and intellectual disability
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Fragile X syndrome; Intellectual disability; Autism spectrum disorders;
Caregiver impacts
ID NATIONAL PROFILE; CHILDHOOD AUTISM; UNITED-STATES; DOWN-SYNDROME;
CHILDREN; HEALTH; CARE; BURDEN; POPULATION; VARIABLES
AB This study compares the family financial and employment impacts of having a child with fragile X syndrome (FXS), autism spectrum disorder (ASD), or intellectual disabilities (ID). Data from a 2011 national survey of families of children with FXS were matched with data from the National Survey of Children with Special Health Care Needs 2009-2010 to form four analytic groups: children with FXS (n = 189), children with special health care needs with ASD only (n = 185), ID only (n= 177), or both ASD and ID (n = 178). Comparable percentages of parents of children with FXS (60%) and parents of children with both ASD and ID (52%) reported that their families experienced a financial burden as a result of the condition, both of which were higher than the percentages of parents of children with ASD only (39%) or ID only (29%). Comparable percentages of parents of children with FXS (40%) and parents of children with both ASD and ID (46%) reported quitting employment because of the condition, both of which were higher than the percentages of parents of children with ID only (25%) or ASD only (25%). In multivariate analyses controlling for co-occurring conditions and functional difficulties and stratified by age, adjusted odds ratios for the FXS group aged 12-17 years were significantly elevated for financial burden (2.73, 95% CI 1.29-5.77), quitting employment (2.58, 95% CI 1.18-5.65) and reduced hours of work (4.34, 95% CI 2.08-9.06) relative to children with ASD only. Among children aged 5 11 years, the adjusted odds ratios for the FXS group were elevated but statistically insignificant for financial burden (1.63, 95% CI 0.85-3.14) and reducing hours of work (1.34, 95% CI 0.68-2.63) relative to children with ASD only. Regardless of condition, co-occurring anxiety or seizures, limits in thinking, reasoning, or learning ability, and more irritability were significantly associated with more caregiver financial and employment impacts. Proper management of anxiety or seizures and functional difficulties of children with FXS or other developmental disabilities may be important in alleviating adverse family caregiver impacts. Published by Elsevier Ltd.
C1 [Ouyang, Lijing; Grosse, Scott D.; Riley, Catharine; Bolen, Julie] Ctr Dis Control & Prevent, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA USA.
[Bishop, Ellen; Raspa, Melissa; Bailey, Donald B., Jr.] RTI Int, Res Triangle Pk, NC USA.
RP Ouyang, LJ (reprint author), 1600 Clifton Rd NE,Mail Stop E-88, Atlanta, GA 30329 USA.
EM louyang@cdc.gov
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Schieve LA, 2011, DISABIL HEALTH J, V4, P68, DOI 10.1016/j.dhjo.2010.06.001
NR 30
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 JUL
PY 2014
VL 35
IS 7
BP 1518
EP 1527
DI 10.1016/j.ridd.2014.04.009
PG 10
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AH3GK
UT WOS:000336011500008
PM 24755230
ER
PT J
AU Poon, KK
Ooi, N
Bull, R
Bailey, DB
AF Poon, Kenneth K.
Ooi, Nona
Bull, Rebecca
Bailey, Donald B., Jr.
TI Psychometric validation of the Family Outcome Survey-Revised in
Singapore
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Early childhood intervention; Family Outcomes Survey-Revised; Singapore
ID AUTISM SPECTRUM DISORDERS; EARLY INTERVENTION; CHILDREN; DISABILITIES;
DIAGNOSIS; SERVICES; PARENTS; FATHERS; MOTHERS; STRESS
AB This study sought to examine the construct validity of the Family Outcomes Survey-Revised (FOS-R) in Singapore, describe the extent to which family outcomes of early childhood intervention (ECI) are attained, and obtain caregivers perception on the extent to which ECI has served their needs. The FOS-R was translated into Chinese (simplified) and Malay for use in Singapore. Bilingual (i.e., English-Chinese and English-Malay) versions of the instrument were distributed to caregivers of young children with disabilities receiving ECI in four centers in Singapore. A total of 291 surveys were available for analyses (response rate of 43.1%). Confirmatory factor analyses indicated that there was a fit between the current data set and the FOS-R structure proposed by the developers. Overall, the participants reported moderately high attainment of family outcomes. They also reported that the ECI programs were mostly helpful. Other aspects of the cross-cultural application of instruments were considered and implications for local service provision as well as directions for future research were discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Poon, Kenneth K.; Ooi, Nona; Bull, Rebecca] Nanyang Technol Univ, Natl Inst Educ, Singapore 637616, Singapore.
[Bailey, Donald B., Jr.] RTI Int, Durham, NC USA.
RP Poon, KK (reprint author), Nanyang Technol Univ, Natl Inst Educ, Singapore 637616, Singapore.
EM kenpoon@gmail.com
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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 JUL
PY 2014
VL 35
IS 7
BP 1534
EP 1543
DI 10.1016/j.ridd.2014.03.047
PG 10
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AH3GK
UT WOS:000336011500010
PM 24763378
ER
PT J
AU Tsai, WH
Hwang, YS
Hung, TY
Weng, SF
Lin, SJ
Chang, WT
AF Tsai, Wen-Hui
Hwang, Yea-Shwu
Hung, Te-Yu
Weng, Shih-Feng
Lin, Shio-Jean
Chang, Wen-Tsan
TI Association between mechanical ventilation and neurodevelopmental
disorders in a nationwide cohort of extremely low birth weight infants
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Attention-deficit/hyperactivity disorder; Autism spectrum disorder;
Cerebral palsy; Extremely low birth weight infants; Intellectual
disability; Mechanical ventilation
ID DEFICIT-HYPERACTIVITY DISORDER; NEONATAL RESEARCH NETWORK; POSITIVE
AIRWAY PRESSURE; CEREBRAL-PALSY; PRETERM INFANTS; RISK-FACTORS;
BRONCHOPULMONARY DYSPLASIA; INTELLECTUAL DISABILITY; SEX
STRATIFICATIONS; HEALTH-INSURANCE
AB Mechanical ventilation for preterm infants independently contributes to poor neurodevelopmental performance. However, few studies have investigated the association between the duration of mechanical ventilation and the risk for various developmental disorders in extremely low birth weight (ELBW) (<1000 g) infants. Using a large nationwide database, we did a 10-year retrospective follow-up study to explore the effect of mechanical ventilation on the incidence of cerebral palsy (CP), autism spectrum disorder (ASD), intellectual disability (ID), and attention-deficit/hyperactivity disorder (ADHD) in ELBW infants born between 1998 and 2001. Seven hundred twenty-eight ELBW infants without diagnoses of brain insults or focal brain lesions in the initial hospital stay were identified and divided into three groups (days on ventilator: <= 2, 3-14, >= 15 days). After adjusting for demographic and medical factors, the infants in the 15 days group had higher risks for CP (adjusted hazard ratio: 2.66; 95% confidence interval: 1.50-4.59; p < 0.001) and ADHD (adjusted hazard ratio: 1.95; 95% confidence interval: 1.02-3.76; p < 0.05), than did infants in the 2 days group. The risk for ASD or ID was not significantly different between the three groups. We conclude that mechanical ventilation for 15 days increased the risk for CP and ADHD in ELBW infants even without significant neonatal brain damage. Developing a brain-protective respiratory support strategy in response to real-time cerebral hemodynamic and oxygenation changes has the potential to improve neurodevelopmental outcomes in ELBW infants. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Tsai, Wen-Hui] Natl Cheng Kung Univ, Coll Med, Inst Clin Med, Tainan 701, Taiwan.
[Tsai, Wen-Hui] Chi Mei Med Ctr, Div Neonatol, Tainan 710, Taiwan.
[Hwang, Yea-Shwu] Natl Cheng Kung Univ, Coll Med, Dept Occupat Therapy, Tainan 701, Taiwan.
[Hung, Te-Yu; Lin, Shio-Jean] Chi Mei Med Ctr, Dept Pediat, Tainan 710, Taiwan.
[Weng, Shih-Feng] Chi Mei Med Ctr, Dept Med Res, Tainan 710, Taiwan.
[Chang, Wen-Tsan] Natl Cheng Kung Univ, Coll Med, Dept Biochem & Mol Biol, Tainan 701, Taiwan.
[Chang, Wen-Tsan] Natl Cheng Kung Univ, Coll Med, Inst Basic Med Sci, Tainan 701, Taiwan.
RP Chang, WT (reprint author), Natl Cheng Kung Univ, Coll Med, Dept Biochem & Mol Biol, 1 Univ Rd, Tainan 701, Taiwan.
EM wtchang@mail.ncku.edu.tw
CR Alexandrou G, 2014, ACTA PAEDIATR, V103, P48, DOI 10.1111/apa.12445
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NR 43
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 JUL
PY 2014
VL 35
IS 7
BP 1544
EP 1550
DI 10.1016/j.ridd.2014.03.048
PG 7
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AH3GK
UT WOS:000336011500011
PM 24769371
ER
PT J
AU Hsu, CF
AF Hsu, Ching-Fen
TI Modality effect on contextual integration in people with Williams
syndrome
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Modality effect; Contextual integration; Central coherence;
Syndrome-general deficiency; Williams syndrome
ID INFORMATION INTEGRATION; COHERENCE; AUTISM; WEAK
AB In this study meaningful social stimuli were used as probes in a task requiring the judgment of semantic appropriateness to investigate contextual integration ability to test the ability of people with Williams syndrome (WS) to integrate information, as opposed to the use of meaningless syllables in audiovisual studies (the McGurk effect). Participants were presented with background auditory primes followed by targets that were either congruent or incongruent with the prime. Two modes of target were presented: a visual target (AV task) or an auditory target (AA task). Participants were asked to respond yes to contextually appropriate pairs and no to those that were contextually inappropriate. The congruency effect was measured as an index of successful central coherence. Similar to normally developing controls, people with WS showed shorter response latencies and greater accuracy in recognizing congruent pairs compared with incongruent pairs. Their performance did not differ from that of controls matched by mental age, but was inferior to that of controls matched by chronological age. The results revealed generalized contextual integration for auditory primes in both tasks, consistent with previous studies using visual presentation of social-related stimuli in people with WS (Hsu, 2013a, 2013c). Further demonstration of the presence of a modality effect on contextual coherence implies that cross-modal learning may be advantageous compared with unimodal learning. (C) 2014 Elsevier Ltd. All rights reserved.
C1 Huafan Univ, Dept Foreign Languages & Literature, Taipei 22301, Taiwan.
RP Hsu, CF (reprint author), Huafan Univ, Dept Foreign Languages & Literature, 1 Huafan Rd, Taipei 22301, Taiwan.
EM chinghsu@cc.hfu.edu.tw
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NR 20
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 JUL
PY 2014
VL 35
IS 7
BP 1571
EP 1578
DI 10.1016/j.ridd.2014.03.049
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AH3GK
UT WOS:000336011500014
PM 24769430
ER
PT J
AU Pratt, ML
Leonard, HC
Adeyinka, H
Hill, EL
AF Pratt, Michelle L.
Leonard, Hayley C.
Adeyinka, Hanna
Hill, Elisabeth L.
TI The effect of motor load on planning and inhibition in developmental
coordination disorder
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Executive function; Developmental coordination disorder; Planning;
Inhibition; Motor development
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; EXECUTIVE FUNCTION DEFICITS;
AUTISM SPECTRUM DISORDERS; WORKING-MEMORY; CHILDREN; PROFILES;
PERFORMANCE; DYSFUNCTION; LANGUAGE; ABILITY
AB Previous research has reported mixed findings regarding executive function (EF) abilities in developmental coordination disorder (DCD), which is diagnosed on the basis of significant impairments in motor skills. The current study aimed to assess whether these differences in study outcomes could result from the relative motor loads of the tasks used to assess EF in DCD. Children with DCD had significant difficulties on measures of inhibition and planning compared to a control group, although there were no significant correlations between motor skills and EF task performance in either group. The complexity of the response, as well as the component skills required in EF tasks, should be considered in future research to ensure easier comparison across studies and a better understanding of EF in DCD over development. (C )2014 Elsevier Ltd. All rights reserved.
C1 [Pratt, Michelle L.; Leonard, Hayley C.; Adeyinka, Hanna; Hill, Elisabeth L.] Univ London, Dept Psychol, London SE14 6NW, England.
RP Hill, EL (reprint author), Univ London, Dept Psychol, London SE14 6NW, England.
EM h.leonard@gold.ac.uk
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Wuang YP, 2011, RES DEV DISABIL, V32, P1669, DOI 10.1016/j.ridd.2011.02.021
NR 36
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 JUL
PY 2014
VL 35
IS 7
BP 1579
EP 1587
DI 10.1016/j.ridd.2014.04.008
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AH3GK
UT WOS:000336011500015
PM 24770468
ER
PT J
AU Sun, X
Allison, C
Auyeung, B
Matthews, FE
Zhang, ZX
Baron-Cohen, S
Brayne, C
AF Sun, Xiang
Allison, Carrie
Auyeung, Bonnie
Matthews, Fiona E.
Zhang, Zhixiang
Baron-Cohen, Simon
Brayne, Carol
TI Comparison between a Mandarin Chinese version of the Childhood Autism
Spectrum Test and the Clancy Autism Behaviour Scale in mainland China
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism; Screening; Diagnosis; Epidemiology; CAST; CABS; China
ID PERVASIVE DEVELOPMENTAL DISORDERS; ASPERGER-SYNDROME TEST; DIAGNOSTIC
INTERVIEW; MENTAL-RETARDATION; TEST CAST; PREVALENCE; CHILDREN;
IDENTIFICATION; QUOTIENT; UK
AB A Mandarin Chinese version of the Childhood Autism Spectrum Test (CAST) and Clancy Autism Behaviour Scale (CABS) were applied to 150 children aged 4-11 years old from clinical settings and mainstream schools in Beijing. All the children were further assessed using the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R). The validity of two instruments on screening of ASC was examined and compared using receiver operating characteristic (ROC) curve analysis. The validity of CAST (sensitivity: 89%, specificity: 80%, PPV: 70%) was better than the CABS (sensitivity: 58%, specificity: 84%, PPV: 65%). The area under the curve (AUC) of the CAST (AUC = 0.90) was significantly higher than the CABS (AUC = 0.79, p = 0.0002). The Mandarin CAST demonstrated a better validity in distinguishing children with ASC from children without ASC. It is an acceptable candidate as a screening instrument for ASC in large epidemiological study in Chinese population. (C) 2014 Elsevier Ltd. All rights reserved.
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 2AH, England.
[Sun, Xiang] Chinese Univ Hong Kong, Prince Wales Hosp, Jockey Club Sch Publ Hlth & Primary Care, Shatin, Hong Kong, Peoples R China.
[Auyeung, Bonnie] Univ Edinburgh, Dept Psychol, Edinburgh EH8 9JZ, Midlothian, Scotland.
[Matthews, Fiona E.] Cambridge Inst Publ Hlth, MRC Biostat Unit, Cambridge CB2 0SR, England.
[Zhang, Zhixiang] Peking Univ, Hosp 1, Dept Paediat, Beijing, Peoples R China.
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
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NR 57
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 JUL
PY 2014
VL 35
IS 7
BP 1599
EP 1608
DI 10.1016/j.ridd.2014.02.005
PG 10
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AH3GK
UT WOS:000336011500017
PM 24769432
ER
PT J
AU Hodge, D
Carollo, TM
Lewin, M
Hoffman, CD
Sweeney, DP
AF Hodge, Danelle
Carollo, Tanner M.
Lewin, Michael
Hoffman, Charles D.
Sweeney, Dwight P.
TI Sleep patterns in children with and without autism spectrum disorders:
Developmental comparisons
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism; Sleep; Melatonin; Development
ID HABITS QUESTIONNAIRE; TYPICAL DEVELOPMENT; AGE-CHILDREN; MELATONIN;
ADOLESCENTS; CHILDHOOD; ADULTS; DELAY
AB The present study examined age-related changes in the sleep of children with autism spectrum disorders (ASD) compared to age-related changes in the sleep of typically developing (TD) children. Participants were 108 mothers of children with ASD and 108 mothers of TD children. Participants completed a questionnaire on children's overall sleep quality that also tapped specific sleep-domains (i.e., bedtime resistance, sleep onset delay, sleep duration, sleep anxiety, night wakings, parasomnias, disordered breathing, daytime sleepiness). Results confirm significantly poorer sleep quantity and quality in children with ASD, particularly children age 6-9 years. Unlike TD children, the sleep problems of children with ASD were unlikely to diminish with age. Our findings suggest that it is important to exam specific domains of sleep as well as overall sleep patterns. Finding of significant age-related interactions suggests that the practice of combining children from wide age-ranges into a single category obfuscates potentially important developmental differences. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Hodge, Danelle; Carollo, Tanner M.; Lewin, Michael; Hoffman, Charles D.; Sweeney, Dwight P.] Calif State Univ San Bernardino, Dept Psychol, San Bernardino, CA 92407 USA.
RP Hodge, D (reprint author), Calif State Univ San Bernardino, Dept Psychol, 5500 Univ Pkwy, San Bernardino, CA 92407 USA.
EM dhodge@csusb.edu
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NR 44
TC 5
Z9 5
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 JUL
PY 2014
VL 35
IS 7
BP 1631
EP 1638
DI 10.1016/j.ridd.2014.03.037
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AH3GK
UT WOS:000336011500020
PM 24780146
ER
PT J
AU Samadi, SA
McConkey, R
Bunting, B
AF Samadi, Sayyed Ali
McConkey, Roy
Bunting, Brendan
TI Parental wellbeing of Iranian families with children who have
developmental disabilities
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Intellectual disability; Autism spectrum disorder; Iran; Parents;
Health; Stress; Family functioning
ID AUTISM SPECTRUM DISORDERS; BEHAVIOR PROBLEMS; YOUNG-CHILDREN;
INTELLECTUAL DISABILITIES; DOWN-SYNDROME; STRESS; MOTHERS; IMPACT;
SUPPORT; ADJUSTMENT
AB To date, most research with families who have a child with developmental disabilities has been undertaken in English speaking countries. Poorer health, allied with increased levels of stress has been commonly reported for mothers but less is known about the impact on fathers and on overall family functioning. This study aimed to document the correlates of these parental impacts with Iranian mothers and fathers who had children with either intellectual disabilities (ID) or with autism spectrum disorders (ASD). In all 121 parents (69 mothers and 52 fathers from 94 families) who had a child with a diagnosis of ADS, along with 115 parents of children with ID (83 mothers and 32 fathers from 101 families) volunteered to take part in the study. Each participant completed through interview standardised rating scales of parenting stress, emotional well-being, family functioning and satisfaction with caring role along with demographic information and details of informal supports. Structural Equation Modeling identified that family functioning was much poorer in families whose child had ASD and both mothers and fathers reported higher levels of stress. Poorer emotional well-being contributed to higher stress and was more frequent among mothers, single parents and those whose children had behaviour problems. Having other dependents living at home and more sources of informal support improved the emotional wellbeing of parents but not their stress or family functioning. Parents who derived greater satisfaction from their caring role tended to have better emotional health and less stress. Although the impact on Iranian parents of having a child with developmental disabilities is broadly similar to those of parents in other cultures, there are indications that children with ASD present distinct challenges to these families. The model derived in this study is a useful guide both for further research as well as family-centred interventions. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Samadi, Sayyed Ali; McConkey, Roy] Univ Ulster, Inst Nursing & Hlth Res, Coleraine BT52 1SA, Londonderry, North Ireland.
[Bunting, Brendan] Univ Ulster, Psychol Res Inst, Coleraine BT52 1SA, Londonderry, North Ireland.
RP McConkey, R (reprint author), Univ Ulster, Inst Nursing & Hlth Res, Coleraine BT52 1SA, Londonderry, North Ireland.
EM r.mcconkey@ulster.ac.uk
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NR 42
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 JUL
PY 2014
VL 35
IS 7
BP 1639
EP 1647
DI 10.1016/j.ridd.2014.04.001
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AH3GK
UT WOS:000336011500021
PM 24814475
ER
PT J
AU Gadow, KD
Pinsonneault, JK
Perlman, G
Sadee, W
AF Gadow, Kenneth D.
Pinsonneault, Julia K.
Perlman, Greg
Sadee, Wolfgang
TI Association of dopamine gene variants, emotion dysregulation and ADHD in
autism spectrum disorder
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism; Autism spectrum disorder; Depression; Emotion dysregulation;
ADHD; DAT1; DRD2
ID DEFICIT HYPERACTIVITY DISORDER; CHILD SYMPTOM INVENTORY-4; SCORING
ALGORITHMS; NUCLEUS-ACCUMBENS; CLINICAL UTILITY; DEPRESSION; EXPRESSION;
ANXIETY; SAMPLES; SYSTEM
AB The aim of the present study was to evaluate the association of dopaminergic gene variants with emotion dysregulation (EMD) and attention-deficit/hyperactivity disorder (ADHD) symptoms in children with autism spectrum disorder (ASD). Three dopamine transporter gene (SLC6A3/DAT1)polymorphisms (intron8 5/6 VNTR, 3'-UTR 9/10 VNTR, rs27072 in the 3'-UTR) and one dopamine D2 receptor gene (DRD2) variant (rs2283265) were selected for genotyping based on a priori evidence of regulatory activity or, in the case of DAT1 9/10 VNTR, commonly reported associations with ADHD. A sample of 110 children with ASD Was assessed with a rigorously validated DSM-IV-referenced rating scale. Global EMD severity (parents' ratings) was associated with DAT1 intron8 (eta p(2)=.063) and rs2283265 (eta p(2)=.044). Findings for DAT1 intron8 were also significant for two EMD subscales, generalized anxiety (eta p(2)=.065) and depression (eta p(2)=.059), and for DRD2 rs2283265, depression (eta p(2)=.053). DRD2 rs2283265 was associated with teachers' global ratings of ADHD (eta p(2) =.052). DAT1 intron8 was associated with parent-rated hyperactivity (eta p(2) =.045) and both DAT1 9/10 VNTR (eta p(2)=.105) and DRD2 rs2283265 (eta p(2)=.069) were associated with teacher-rated inattention. These findings suggest that dopaminergic gene polymorphisms may modulate EMD and ADHD symptoms in children with ASD but require replication with larger independent samples. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Gadow, Kenneth D.; Perlman, Greg] SUNY Stony Brook, Dept Psychiat, Stony Brook, NY 11794 USA.
[Pinsonneault, Julia K.; Sadee, Wolfgang] Ohio State Univ, Wexner Med Ctr, Ctr Pharmacogen, Dept Pharmacol, Columbus, OH 43210 USA.
RP Gadow, KD (reprint author), SUNY Stony Brook, Dept Psychiat, Putnam Hall, Stony Brook, NY 11794 USA.
EM kenneth.gadow@stonybrook.edu; pinsonneault.2@osu.edu;
gperlman@gmail.com; Wolfgang.Sadee@osumc.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 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD JUL
PY 2014
VL 35
IS 7
BP 1658
EP 1665
DI 10.1016/j.ridd.2014.04.007
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AH3GK
UT WOS:000336011500023
PM 24780147
ER
PT J
AU Li, XM
Wang, K
Wu, JX
Hong, YF
Zhao, JP
Feng, XJ
Xu, M
Wang, M
Ndasauka, Y
Zhang, XC
AF Li, Xiaoming
Wang, Kai
Wu, Jianxian
Hong, Yongfeng
Zhao, Jingpu
Feng, Xiaojun
Xu, Mei
Wang, Min
Ndasauka, Yamikani
Zhang, Xiaochu
TI The link between impaired theory of mind and executive function in
children with cerebral palsy
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Cerebral palsy; Theory of mind; Executive function
ID AUTISM SPECTRUM DISORDERS; LATENT VARIABLE ANALYSIS; WORKING-MEMORY;
ASPERGER-SYNDROME; PERFORMANCE; BELIEFS; SCHIZOPHRENIA; COMPREHENSION;
PRESCHOOLERS; DISABILITIES
AB The aim of the study was to explore the relationship between theory of mind (ToM) deficits and executive function (EF) impairments in children with cerebral palsy (CP), 42 CP with children and 42 typically developing (TD) children, acting as controls, were assessed on the tasks of ToM (false belief and faux pas) and EF (inhibition, updating and shifting). Results showed that CP children had deficits both in ToM and EF tasks. The correlation analyses showed that two EF components (inhibition and updating) were strongly related to false belief and faux pas in both two groups. We also found correlation between shifting and false belief and faux pas. However, this correlation was only found in TD children and not in children with CP. These findings suggest that children with CP lag behind TD children in both ToM and EF. Further, the results reveal, interestingly, that ToM deficits in CP children might be related to their inhibition and updating impairments, but not to shifting impairments. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Li, Xiaoming; Zhang, Xiaochu] Univ Sci & Technol China, CAS Key Lab Brain Funct & Dis, Hefei 230027, Anhui Province, Peoples R China.
[Li, Xiaoming; Zhang, Xiaochu] Univ Sci & Technol China, Sch Life Sci, Hefei 230027, Anhui Province, Peoples R China.
[Li, Xiaoming; Wang, Kai] Anhui Med Univ, Dept Med Psychol, Hefei 230032, Anhui Province, Peoples R China.
[Wu, Jianxian; Hong, Yongfeng; Zhao, Jingpu; Feng, Xiaojun; Xu, Mei] Anhui Med Univ, Affiliated Hosp 2, Dept Rehabil Med, Hefei 230032, Anhui Province, Peoples R China.
[Wang, Min] Anhui Med Univ, Affiliated Hosp 1, Dept Rehabil Med, Hefei 230032, Anhui Province, Peoples R China.
[Ndasauka, Yamikani; Zhang, Xiaochu] Univ Sci & Technol China, Sch Humanities & Social Sci, Hefei 230026, Anhui, Peoples R China.
RP Li, XM (reprint author), Univ Sci & Technol China, CAS Key Lab Brain Funct & Dis, Hefei 230027, Anhui Province, Peoples R China.
EM psyxiaoming@126.com; zxcustc@ustc.edu.cn
RI Zhang, Xiaochu/O-9592-2014
OI Zhang, Xiaochu/0000-0002-7541-0130
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NR 56
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 JUL
PY 2014
VL 35
IS 7
BP 1686
EP 1693
DI 10.1016/j.ridd.2014.03.017
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AH3GK
UT WOS:000336011500026
PM 24685096
ER
PT J
AU Machalicek, W
McDuffie, A
Oakes, A
Ma, M
Thurman, AJ
Rispoli, MJ
Abbeduto, L
AF Machalicek, Wendy
McDuffie, Andrea
Oakes, Ashley
Ma, Monica
Thurman, Angela John
Rispoli, Mandy J.
Abbeduto, Leonard
TI Examining the operant function of challenging behavior in young males
with fragile X syndrome: A summary of 12 cases
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Challenging behavior; Fragile X syndrome; Functional analysis;
Functional behavior assessment
ID SELF-INJURIOUS-BEHAVIOR; AUTISM SPECTRUM DISORDERS; ABERRANT BEHAVIOR;
CHILDREN; INDIVIDUALS; PHENOTYPE; ATTENTION; TOPOGRAPHIES; DISABILITIES;
QUESTIONS
AB This study used experimental functional analyses to examine the operant function of challenging behaviors exhibited by 12 males (ages 27-51 months) with fragile X syndrome (FXS). Eight children met criteria for negatively reinforced challenging behavior in the form of escape from demands and/or escape from social interactions. Nine children met criteria for positively reinforced challenging behavior in the form of obtaining access to highly preferred items. Attention was identified as a maintaining consequence for three children. The functional analysis was inconclusive for one child. Results suggest that, for young males with FXS, challenging behaviors may more likely be tangibly and escape maintained than attention maintained. Our findings affirm past research suggesting a unique behavioral phenotype for this population. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Machalicek, Wendy] Univ Oregon, Eugene, OR 97403 USA.
[McDuffie, Andrea; Oakes, Ashley; Ma, Monica; Thurman, Angela John; Abbeduto, Leonard] Univ Calif Davis, MIND Inst, Davis, CA USA.
[Rispoli, Mandy J.] Texas A&M Univ, College Stn, TX 77843 USA.
RP Machalicek, W (reprint author), Univ Oregon, Dept Special Educ & Clin Sci, 901 East 18th Ave, Eugene, OR 97403 USA.
EM wmachali@uoregon.edu
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NR 65
TC 2
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 JUL
PY 2014
VL 35
IS 7
BP 1694
EP 1704
DI 10.1016/j.ridd.2014.03.014
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AH3GK
UT WOS:000336011500027
PM 24679547
ER
PT J
AU Greer, J
Hamiliton, C
Riby, DM
Riby, LM
AF Greer, Joanna
Hamiliton, Colin
Riby, Deborah M.
Riby, Leigh M.
TI Deeper processing is beneficial during episodic memory encoding for
adults with Williams syndrome
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Williams Syndrome; Ageing; Cognition; Episodic memory; Semantic memory;
Depths of processing; Encoding
ID LONG-TERM-MEMORY; AGE-DIFFERENCES; DOWN-SYNDROME; OLDER-ADULTS;
RECOLLECTION; FAMILIARITY; TASK; INDIVIDUALS; RECOGNITION; PERFORMANCE
AB Previous research exploring declarative memory in Williams syndrome (WS) has revealed impairment in the processing of episodic information accompanied by a relative strength in semantic ability. The aim of the current study was to extend this literature by examining how relatively spared semantic memory may support episodic remembering. Using a level of processing paradigm, older adults with WS (aged 35-61 years) were compared to typical adults of the same chronological age and typically developing children matched for verbal ability. In the study phase, pictures were encoded using either a deep (decide if a picture belongs to a particular category) or shallow (perceptual based processing) memory strategy. Behavioural indices (reaction time and accuracy) at retrieval were suggestive of an overall difficulty in episodic memory for WS adults. Interestingly, however, semantic support was evident with a greater recall of items encoded with deep compared to shallow processing, indicative of an ability to employ semantic encoding strategies to maximise the strength of the memory trace created. Unlike individuals with autism who find semantic elaboration strategies problematic, the pattern of findings reported here suggests in those domains that are relatively impaired in WS, support can be recruited from relatively spared cognitive processes. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Greer, Joanna; Hamiliton, Colin; Riby, Leigh M.] Northumbria Univ, Dept Psychol, Newcastle Upon Tyne NE1 8ST, Tyne & Wear, England.
[Riby, Deborah M.] Univ Durham, Dept Psychol, Durham DH1 3HP, England.
RP Riby, LM (reprint author), Northumbria Univ, Dept Psychol, Northumberland Bldg, Newcastle Upon Tyne NE1 8ST, Tyne & Wear, England.
EM leigh.riby@northumbria.ac.uk
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NR 33
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 JUL
PY 2014
VL 35
IS 7
BP 1720
EP 1726
DI 10.1016/j.ridd.2014.03.004
PG 7
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AH3GK
UT WOS:000336011500030
PM 24679545
ER
PT J
AU Mertz, LGB
Thaulov, P
Trillingsgaard, A
Christensen, R
Vogel, I
Hertz, JM
Ostergaard, JR
AF Mertz, Line Granild Bie
Thaulov, Per
Trillingsgaard, Anegen
Christensen, Rikke
Vogel, Ida
Hertz, Jens Michael
Ostergaard, John R.
TI Neurodevelopmental outcome in Angelman syndrome: Genotype-phenotype
correlations
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Angelman syndrome; 15q11.2-q13; Language skills; Autism; ADDS; Mullen;
Intellectual disability
ID AUTISM SPECTRUM DISORDERS; DISTINCT PHENOTYPES; DELETION; DIAGNOSIS;
FEATURES
AB Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, developmental delay, lack of speech, and epileptic seizures. Previous studies have indicated that children with AS due to 15q11.2-q13 deletions have a more severe developmental delay and present more often autistic features than those with AS caused by other genetic etiologies. The present study investigated the neurodevelopmental profiles of the different genetic etiologies of AS, and examined the evolution of mental development and autistic features over a 12-year period in children with a 15q11.2-q13 deletion. This study included 42 children with AS. Twelve had a Class I deletion, 18 had Class II deletions, three showed atypical large deletions, five had paternal uniparental disomy (pUPD) and four had UBE3A mutations. Children with a deletion (Class I and Class II) showed significantly reduced developmental age in terms of visual perception, receptive language, and expressive language when compared to those with a UBE3A mutation and pUPD. Within all subgroups, expressive language performance was significantly reduced when compared to the receptive performance. A follow-up study of seven AS cases with 15q11.2-q13 deletions revealed that over 12 years, the level of autistic features did not change, but both receptive and expressive language skills improved. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Mertz, Line Granild Bie; Ostergaard, John R.] Aarhus Univ Hosp, Dept Pediat, Ctr Rare Dis, Aarhus, Denmark.
[Thaulov, Per] Aarhus Univ Hosp, Psychiat Hosp Children & Adolescents, Aarhus, Denmark.
[Trillingsgaard, Anegen] Aarhus Univ, Dept Psychol, DK-8000 Aarhus C, Denmark.
[Christensen, Rikke; Vogel, Ida] Aarhus Univ Hosp, Dept Clin Genet, Aarhus, Denmark.
[Hertz, Jens Michael] Odense Univ Hosp, Dept Clin Genet, Odense, Denmark.
RP Mertz, LGB (reprint author), Aarhus Univ Hosp, Dept Pediat, Ctr Rare Dis, Aarhus, Denmark.
EM linebiemertz@dadlnet.dk
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NR 22
TC 1
Z9 2
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 JUL
PY 2014
VL 35
IS 7
BP 1742
EP 1747
DI 10.1016/j.ridd.2014.02.018
PG 6
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AH3GK
UT WOS:000336011500033
PM 24656292
ER
PT J
AU Tureck, K
Matson, JL
Cervantes, P
Konst, MJ
AF Tureck, Kim
Matson, Johnny L.
Cervantes, Paige
Konst, Matthew J.
TI An examination of the relationship between autism spectrum disorder,
intellectual functioning, and comorbid symptoms in children
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism spectrum disorder; Intellectual functioning; Comorbid symptoms;
Autism Spectrum Disorders-Comorbidity for; Children (ASD-CC)
ID PSYCHIATRIC-DISORDERS; PDD-NOS; CHALLENGING BEHAVIORS; REPETITIVE
BEHAVIORS; DIAGNOSTIC FIDELITY; ANXIETY SYMPTOMS; INFANT SCREEN; ASD-CC;
ADULTS; DEPRESSION
AB There is a deficiency of research looking at how rates of comorbid psychopathology are effected by autism spectrum disorder (ASD) and intellectual functioning level. The present study aimed to extend the literature in this area by evaluating how ASD and IQ scores are related to ratings on a measure of comorbid symptoms. Twenty-three children with ASD and 87 children without ASD participated in this study. Rates of tantrum behavior, avoidant behavior, worry/depressed, repetitive behavior, under-eating, over-eating, and conduct behavior were examined utilizing the Autism Spectrum Disorders-Comorbidity for Children (ASD-CC). Correlational and multiple regression analyses were then conducted. ASD diagnosis significantly predicted rates of tantrum behavior, avoidant behavior, and repetitive behavior. Children with ASD tended to have higher rates of all three of these comorbid symptoms than children without ASD. Although not statistically significant, there was a negative correlation between IQ and rates of comorbid symptoms, such that children with higher IQ scores tended to have lower rates of comorbid symptoms. The implications of these findings on assessment and intervention are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Tureck, Kim; Matson, Johnny L.; Cervantes, Paige; Konst, Matthew J.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Tureck, K (reprint author), LSU, Dept Psychol, Baton Rouge, LA 70803 USA.
EM kim.tureck@gmail.com
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NR 60
TC 2
Z9 2
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 JUL
PY 2014
VL 35
IS 7
BP 1766
EP 1772
DI 10.1016/j.ridd.2014.02.013
PG 7
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AH3GK
UT WOS:000336011500036
PM 24656807
ER
PT J
AU Turygin, N
Matson, JL
Adams, H
AF Turygin, Nicole
Matson, Johnny L.
Adams, Hilary
TI Prevalence of co-occurring disorders in a sample of adults with mild and
moderate intellectual disabilities who reside in a residential treatment
setting
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Intellectual disability; Developmental disabilities; Dual diagnosis;
Comorbidity; Co-occurring conditions; Adults
ID PERVASIVE DEVELOPMENTAL DISORDER; ABERRANT BEHAVIOR CHECKLIST; PROFOUND
MENTAL-RETARDATION; AUTISM SPECTRUM DISORDERS; SELF-INJURIOUS-BEHAVIOR;
II DASH-II; DIAGNOSTIC-ASSESSMENT; SOCIAL-SKILLS; COMORBID
PSYCHOPATHOLOGY; PSYCHIATRIC-DISORDERS
AB The presence of an intellectual disability (ID) is associated with a myriad of co-occurring conditions, including psychiatric and genetic disorders, behavior problems, physical disabilities, and seizure disorders. Often the most severely affected individuals reside in residential treatment facilities, where they may obtain specialized treatment and management of their challenging behavior. The present study examines the prevalence of psychiatric disorders, seizures, and ID within the context of demographic categories in a sample of 101 individuals with mild to moderate ID living in a long-term residential treatment facility. Autism spectrum disorders (ASDs) were more prevalent among individuals with moderate ID, whereas personality disorders were more likely to be diagnosed in individuals with mild ID. Impulse disorders were more frequently observed in females. Further research is needed in order to determine appropriate treatment for such individuals, which should include therapies that are targeted to the specific problems of this population. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Turygin, Nicole; Matson, Johnny L.; Adams, Hilary] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Turygin, N (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM nturyg1@tigers.lsu.edu
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NR 53
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 JUL
PY 2014
VL 35
IS 7
BP 1802
EP 1808
DI 10.1016/j.ridd.2014.01.027
PG 7
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AH3GK
UT WOS:000336011500040
PM 24656808
ER
PT J
AU O'Dwyer, L
Tanner, C
van Dongen, EV
Greven, CU
Braten, J
Zwiersl, MP
Franke, B
Oosterlaan, J
Heslenfeld, D
Hoekstra, P
Hartman, CA
Rommelse, N
Buitelaar, JK
AF O'Dwyer, Laurence
Tanner, Colby
van Dongen, Eelco V.
Greven, Corina U.
Braten, Janita
Zwiersl, Marcel P.
Franke, Barbara
Oosterlaan, Jaap
Heslenfeld, Dirk
Hoekstra, Pieter
Hartman, Catharina A.
Rommelse, Nanda
Buitelaar, Jan K.
TI Brain Volumetric Correlates of Autism Spectrum Disorder Symptoms in
Attention Deficit/Hyperactivity Disorder
SO PLOS ONE
LA English
DT Article
ID DEFICIT HYPERACTIVITY DISORDER; PERVASIVE DEVELOPMENTAL DISORDERS;
BEHAVIOR QUESTIONNAIRE CSBQ; LARGE MULTICENTER ADHD; REPETITIVE
BEHAVIORS; DIAGNOSTIC-APPROACH; LANGUAGE DISORDER; CORPUS-CALLOSUM;
CAUDATE-NUCLEUS; FAMILIAL TRAIT
AB Autism spectrum disorder (ASD) symptoms frequently occur in subjects with attention deficit/hyperactivity disord (ADHD). While there is evidence that both ADHD and ASD have differential structural correlates, no study to date has nvestigated these structural correlates within a framework that robustly accounts for the phenotypic overlap between the two disorders. The presence of ASD symptoms was measured by the parent-reported Children's Social and Behavioural Questionnaire (CSBQ) in ADHD subject n = 180) their unaffected siblings (n = 118) and healthy controls (n = 146). ADHD symptoms were assessed by a structured interview K-SADS-PL) and the Conners' ADHD questionnaires. Whole brain T1 Weighted MPRAGE images were acquired and the structural MRI correlates of ASD symptom scores were analysed by modelling ASD symptom scores against white matter (WM) and grey matter (GM) volumes using mixed effects models which controlled for ADHD symptom levels. ASD symptoms were significantly elevated in ADHD subjects relative to bot h controls and unaffected siblings. ASD scores were predicted by the interaction between WM and GM volumes. Increasing ASD score was associated with greater GM volume. Equivocal results from previous structural studies in ADHD and ASD may be due to the fact that comorbidity has not been taken into account in studies to date. The current findings stress he need. to account for issues of ASD comorbidity ADHD.
C1 [O'Dwyer, Laurence; van Dongen, Eelco V.; Greven, Corina U.; Braten, Janita; Zwiersl, Marcel P.; Buitelaar, Jan K.] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Cognit Neurosci, NL-6525 ED Nijmegen, Netherlands.
[Tanner, Colby] Univ Lausanne, Dept Ecol & Evolut, Lausanne, Switzerland.
[Greven, Corina U.] Kings Coll London, Social Genet & Dev Psychiat Ctr, Inst Psychiat, London WC2R 2LS, England.
[Braten, Janita; Franke, Barbara] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.
[Franke, Barbara; Rommelse, Nanda] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Psychiat, NL-6525 ED Nijmegen, Netherlands.
[Oosterlaan, Jaap; Heslenfeld, Dirk] Vrije Univ Amsterdam, Dept Clin Neuropsychol, Amsterdam, Netherlands.
[Heslenfeld, Dirk] Vrije Univ Amsterdam, Dept Cognit Psychol, Amsterdam, Netherlands.
[Hoekstra, Pieter; Hartman, Catharina A.] Univ Groningen, Univ Med Ctr Groningen, Dept Psychiat, Groningen, Netherlands.
[Rommelse, Nanda; Buitelaar, Jan K.] Karakter Child & Adolescent Psychiat Univ Ctr Nij, Nijmegen, Netherlands.
RP O'Dwyer, L (reprint author), Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Cognit Neurosci, NL-6525 ED Nijmegen, Netherlands.
EM larodwyer@gmail.com
RI Zwiers, Marcel/D-2968-2009; Franke, Barbara/D-4836-2009
OI Zwiers, Marcel/0000-0001-5483-2935; Franke, Barbara/0000-0003-4375-6572
FU National Institutes of Health [RO1MH62873]; NWO Large Investment Grant
[1750102007010]; Radboud University Nijmegen Medical Center; University
Medical Center Groningen and Accare; Vrije Universiteit Amsterdam;
European Community's Seventh Framework Programme [278948]; Innovative
Medicines Initiative Joint Undertaking (IMI) under (EU-AIMS)
[115300-01]; Irish Research Council for Science, Engineering and
Technology (IRCSET)
FX The NeuroIMAGE study was supported by National Institutes of Health
grant RO1MH62873 (to Stephen V. Faraone), NWO Large Investment Grant
1750102007010 (to Jan Buitelaar) and matching grants from Radboud
University Nijmegen Medical Center, University Medical Center Groningen
and Accare, and Vrije Universiteit Amsterdam. The research leading to
these results also received support from the European Community's
Seventh Framework Programme (FP7/2007-2013) under grant agreement number
278948 (TACTICS), and from the Innovative Medicines Initiative Joint
Undertaking (IMI) under grant agreement number 115300-01 (EU-AIMS). CT
was supported by a fellowship from the Irish Research Council for
Science, Engineering and Technology (IRCSET). 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 91
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 JUN 30
PY 2014
VL 9
IS 6
AR e101130
DI 10.1371/journal.pone.0101130
PG 13
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AK5ZO
UT WOS:000338506400083
PM 24979066
ER
PT J
AU Kuypers, KPC
de la Torre, R
Farre, M
Yubero-Lahoz, S
Dziobek, I
Van den Bos, W
Ramaekers, JG
AF Kuypers, Kim P. C.
de la Torre, Rafael
Farre, Magi
Yubero-Lahoz, Samanta
Dziobek, Isabel
Van den Bos, Wouter
Ramaekers, Johannes G.
TI No Evidence that MDMA-Induced Enhancement of Emotional Empathy Is
Related to Peripheral Oxytocin Levels or 5-HT1a Receptor Activation
SO PLOS ONE
LA English
DT Article
ID HIGH-FUNCTIONING AUTISM; SOCIAL-BEHAVIOR;
3,4-METHYLENEDIOXYMETHAMPHETAMINE MDMA; INTRANASAL OXYTOCIN; PROSOCIAL
FEELINGS; HEALTHY-VOLUNTEERS; VERBAL MEMORY; BETA-BLOCKER; ECSTASY;
HUMANS
AB The present study aimed at investigating the effect of MDMA on measures of empathy and social interaction, and the roles of oxytocin and the 5-HT1A receptor in these effects. The design was placebo-controlled within-subject with 4 treatment conditions: MDMA (75 mg), with or without pindolol (20 mg), oxytocin nasal spray (40 IU+16 IU) or placebo. Participants were 20 healthy poly-drug MDMA users, aged between 18-26 years. Cognitive and emotional empathy were assessed by means of the Reading the Mind in the Eyes Test and the Multifaceted Empathy Test. Social interaction, defined as trust and reciprocity, was assessed by means of a Trust Game and a Social Ball Tossing Game. Results showed that MDMA selectively affected emotional empathy and left cognitive empathy, trust and reciprocity unaffected. When combined with pindolol, these effects remained unchanged. Oxytocin did not affect measures of empathy and social interaction. Changes in emotional empathy were not related to oxytocin plasma levels. It was concluded that MDMA (75 mg) selectively enhances emotional empathy in humans. While the underlying neurobiological mechanism is still unknown, it is suggested that peripheral oxytocin does not seem to be the main actor in this; potential candidates are the serotonin 2A and the vasopressin 1A receptors.
C1 [Kuypers, Kim P. C.; Ramaekers, Johannes G.] Maastricht Univ, Fac Psychol & Neurosci, Dept Neuropsychol & Psychopharmacol, Maastricht, Netherlands.
[de la Torre, Rafael; Farre, Magi; Yubero-Lahoz, Samanta] Hosp Mar, IMIM, Res Inst, Human Pharmacol & Clin Neurosci Res Grp, Barcelona, Spain.
[Dziobek, Isabel] Free Univ Berlin, Berlin, Germany.
[Van den Bos, Wouter] Max Planck Inst Human Dev, Ctr Adapt Rational ARC, Berlin, Germany.
RP Kuypers, KPC (reprint author), Maastricht Univ, Fac Psychol & Neurosci, Dept Neuropsychol & Psychopharmacol, Maastricht, Netherlands.
EM k.kuypers@maastrichtuniversity.nl
FU Netherlands Organization for Scientific Research (NWO) [400-07-2013]
FX This work was supported by the Netherlands Organization for Scientific
Research (NWO), Grant number: 400-07-2013, awarded to JR and KK. 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 54
TC 2
Z9 2
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 JUN 27
PY 2014
VL 9
IS 6
AR e100719
DI 10.1371/journal.pone.0100719
PG 14
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AK6BK
UT WOS:000338512200053
PM 24972084
ER
PT J
AU Caruana, N
Brock, J
AF Caruana, Nathan
Brock, Jon
TI No association between autistic traits and contextual influences on
eye-movements during reading
SO PEERJ
LA English
DT Article
DE Autism; Autistic traits; Eye-movements; Reading; Sentence context;
Reading comprehension; Semantic processing; Central coherence
ID LEXICAL AMBIGUITY RESOLUTION; SPECTRUM QUOTIENT AQ; CENTRAL COHERENCE;
VISUAL-SEARCH; FIXATION TIMES; PERCEPTION; CHILDREN; MIND;
COMPREHENDERS; INDIVIDUALS
AB Individuals with autism spectrum disorders are claimed to show a local cognitive bias, termed "weak central coherence", which manifests in a reduced influence of contextual information on linguistic processing. Here, we investigated whether this bias might also be demonstrated by individuals who exhibit sub-clinical levels of autistic traits, as has been found for other aspects of autistic cognition. The eye-movements of 71 university students were monitored as they completed a reading comprehension task. Consistent with previous studies, participants made shorter fixations on words that were highly predicted on the basis of preceding sentence context. However, contrary to the weak central coherence account, this effect was not reduced amongst individuals with high levels of autistic traits, as measured by the Autism Spectrum Quotient (AQ). Further exploratory analyses revealed that participants with high AQ scores fixated longer on words that resolved the meaning of an earlier homograph. However, this was only the case for sentences where the two potential meanings of the homograph result in different pronunciations. The results provide tentative evidence for differences in reading style that are associated with autistic traits, but fail to support the notion of weak central coherence extending into the non-autistic population.
C1 [Caruana, Nathan; Brock, Jon] Macquarie Univ, Dept Cognit Sci, Sydney, NSW 2109, Australia.
[Brock, Jon] Macquarie Univ, Dept Psychol, Sydney, NSW 2109, Australia.
EM jon.brock@mq.edu.au
FU Australian Research Council Australian Research Fellowship [DP098466];
Australian Research Council Centre of Excellence in Cognition and its
Disorders [CE110001021]
FX Jon Brock was supported by an Australian Research Council Australian
Research Fellowship (Grant DP098466). He is a Chief Investigator at the
Australian Research Council Centre of Excellence in Cognition and its
Disorders (Grant CE110001021). 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 42
TC 0
Z9 0
PU PEERJ INC
PI LONDON
PA 341-345 OLD ST, THIRD FLR, LONDON, EC1V 9LL, ENGLAND
SN 2167-8359
J9 PEERJ
JI PeerJ
PD JUN 26
PY 2014
VL 2
AR e466
DI 10.7717/peerj.466
PG 16
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AY5KP
UT WOS:000347611300010
PM 25024927
ER
PT J
AU Wu, XY
Bai, YR
Tan, T
Li, HJ
Xia, ST
Chang, XX
Zhou, ZK
Zhou, WH
Li, TY
Wang, YT
Dong, ZF
AF Wu, Xiaoyan
Bai, Yanrui
Tan, Tao
Li, Hongjie
Xia, Shuting
Chang, Xinxia
Zhou, Zikai
Zhou, Weihui
Li, Tingyu
Wang, Yu Tian
Dong, Zhifang
TI Lithium ameliorates autistic-like behaviors induced by neonatal
isolation in rats
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE neonatal isolation; autism spectrum disorder; social deficit;
neurogenesis; spontaneous inhibitory postsynaptic current
ID GLYCOGEN-SYNTHASE KINASE-3; MATERNAL SEPARATION; SPECTRUM DISORDERS;
FEMALE RATS; MOUSE MODELS; HIPPOCAMPAL NEUROGENESIS;
PSYCHIATRIC-DISORDERS; ALZHEIMERS-DISEASE; NEUROPEPTIDE-Y; DENTATE GYRUS
AB Neonatal isolation is a widely accepted model to study the long-term behavioral changes produced by the early life events. However, it remains unknown whether neonatal isolation can induce autistic-like behaviors, and if so, whether pharmacological treatment can overcome it. Here, we reported that newborn rats subjected to individual isolations from their mother and nest for 1 h per day from postnatal days 1-9 displayed apparent autistic-like symptoms including social deficits, excessive repetitive self-grooming behavior, and increased anxiety- and depressive-like behaviors tested in young adult (postnatal days 42-56) compared to normal reared controls. Furthermore, these behavioral changes were accompanied by impaired adult hippocampal neurogenesis and reduced the ratio of excitatory/inhibitory synaptic transmissions, as reflected by an increase in spontaneous inhibitory postsynaptic current (sIPSC) and normal spontaneous excitatory postsynaptic current (sEPSC) in the hippocampal CA1 pyramidal neuron. More importantly, chronic administration of lithium, a clinically used mood stabilizer, completely overcame neonatal isolation-induced autistic-like behaviors, and restored adult hippocampal neurogenesis as well as the balance between excitatory and inhibitory activities to physiological levels. These findings indicate that neonatal isolation may produce autistic-like behaviors, and lithium may be a potential therapeutic agent against autism spectrum disorders (ASD) during development.
C1 [Wu, Xiaoyan; Bai, Yanrui; Tan, Tao; Li, Hongjie; Zhou, Weihui; Li, Tingyu; Wang, Yu Tian; Dong, Zhifang] Chongqing Med Univ, Minist Educ, Key Lab Child Dev & Disorders, Childrens Hosp, Chongqing 400014, Peoples R China.
[Wu, Xiaoyan; Bai, Yanrui; Tan, Tao; Li, Hongjie; Zhou, Weihui; Li, Tingyu; Dong, Zhifang] Chongqing Med Univ, Childrens Hosp, Chongqing Key Lab Translat Med Res Cognit Dev & L, Chongqing 400014, Peoples R China.
[Xia, Shuting; Chang, Xinxia; Zhou, Zikai] Southeast Univ, Inst Life Sci, Minist Educ, Key Lab Dev Genes & Human Dis, Nanjing, Jiangsu, Peoples R China.
[Wang, Yu Tian] Univ British Columbia, Brain Res Ctr, Vancouver, BC V5Z 1M9, Canada.
RP Dong, ZF (reprint author), Chongqing Med Univ, Minist Educ, Key Lab Child Dev & Disorders, Childrens Hosp, 136 Zhongshan Er Rd, Chongqing 400014, Peoples R China.
EM zfdong@cqmu.edu.cn
FU Ministry of Science and Technology of China [2012CB517903,
2014CB548100]; National Natural Science Foundation of China [81271221,
31040085, 31200805, 81070269, 81161120498]; Chongqing International
Science and technology Cooperation Foundation [cstc201110003]
FX We thank Dr. Loren W. Oschipok for his excellent editorial assistance.
This work was supported by 973 Program of the Ministry of Science and
Technology of China (2012CB517903 to Zhifang Dong and Weihui Zhou,
2014CB548100 to Zhifang Dong), the National Natural Science Foundation
of China (81271221 and 31040085 to Zhifang Dong, 31200805 to Zikai Zhou,
81070269 to Weihui Zhou and 81161120498 to Tingyu Li), and the Chongqing
International Science and technology Cooperation Foundation
(cstc201110003 to Zhifang Dong). Yu Tian Wang is the holder of the
HSFBC/Y chair in stroke research.
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NR 68
TC 0
Z9 0
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 JUN 26
PY 2014
VL 8
AR 234
DI 10.3389/fnbeh.2014.00234
PG 12
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AK1SC
UT WOS:000338195200001
PM 25018711
ER
PT J
AU Chen, CH
Huang, CC
Cheng, MC
Chiu, YN
Tsai, WC
Wu, YY
Liu, SK
Gau, SSF
AF Chen, Chia-Hsiang
Huang, Chia-Chun
Cheng, Min-Chih
Chiu, Yen-Nan
Tsai, Wen-Che
Wu, Yu-Yu
Liu, Shih-Kai
Gau, Susan Shur-Fen
TI Genetic analysis of GABRB3 as a candidate gene of autism spectrum
disorders
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism spectrum disorders; GABRB3; Rare variants; Genetics; Case-control
association
ID RECEPTOR SUBUNIT GENES; AMINOBUTYRIC-ACID RECEPTOR; INTERNATIONAL
NEUROPSYCHIATRIC INTERVIEW; PERVASIVE DEVELOPMENTAL DISORDERS; CHILDHOOD
ABSENCE EPILEPSY; MESSENGER-RNA LEVELS; GABA(A) RECEPTOR;
LINKAGE-DISEQUILIBRIUM; CHROMOSOME 15Q11-Q13; PSYCHOMETRIC PROPERTIES
AB Background: GABRB3 is a position candidate gene at chromosome 15q12 that has been implicated in the neurobiology of autism spectrum disorders (ASD). The aim of this study was to examine the genetic association of GABRB3 with ASD.
Methods: The sample consisted of 356 patients with clinical diagnosis of ASD according to the DSM-IV diagnostic criteria and confirmed by the Autism Diagnostic Interview-Revised and 386 unrelated controls. We searched for mutations at all the exonic regions and 1.6 Kb of the 5' region of GABRB3 in the genomic DNA of all the participants using the Sanger sequencing. We implemented a case-control association analysis of variants detected in this sample, and conducted a reporter gene assay to assess the functional impact of variants at the 5' regulatory region.
Results: We detected six known common SNPs; however, they were not associated with ASD. Besides, a total of 22 rare variants (12 at 5' regulatory, 4 at intronic, and 6 at exonic regions) were detected in 18 patients and 6 controls. The frequency of rare variants was significantly higher in the patient group than in the control group (18/356 versus 6/386, odds ratio = 3.37, P = 0.007). All the 12 rare variants at the 5' regulatory region were only detected in 7 patients, but not in any of the controls (7/356 versus 0/386, Fisher's exact test, P = 0.006). Two patients carried multiple rare variants. Family studies showed that most of these rare variants were transmitted from their parents. Reporter gene assays revealed that four rare variants at the 5' regulatory region and 1 at exon 1a untranslated region had elevated reporter gene activities compared to two wild type alleles.
Conclusions: Our data suggest rare variants of GABRB3 might be associated with ASD, and increased GABRB3 expression may contribute to the pathogenesis of ASD in some patients.
C1 [Chen, Chia-Hsiang; Wu, Yu-Yu] Chang Gung Mem Hosp Linkou, Dept Psychiat, Taoyuan, Taiwan.
[Chen, Chia-Hsiang] Chang Gung Univ, Dept & Grad Inst Biomed Sci, Taoyuan, Taiwan.
[Chen, Chia-Hsiang; Chiu, Yen-Nan; Tsai, Wen-Che; Gau, Susan Shur-Fen] Natl Taiwan Univ Hosp, Dept Psychiat, Taipei 10002, Taiwan.
[Chen, Chia-Hsiang; Chiu, Yen-Nan; Tsai, Wen-Che; Gau, Susan Shur-Fen] Coll Med, Taipei 10002, Taiwan.
[Huang, Chia-Chun] Tzu Chi Univ, Inst Med Sci, Hualien, Taiwan.
[Cheng, Min-Chih] Yuli Vet Hosp, Yuli Mental Hlth Res Ctr, Dept Psychiat, Hualien, Taiwan.
[Liu, Shih-Kai] Minist Hlth & Welf, Taoyaun Psychiat Ctr, Dept Child & Adolescent Psychiat, Taoyuan, Taiwan.
[Gau, Susan Shur-Fen] Natl Taiwan Univ, Grad Inst Brain & Mind Sci, Taipei 10764, Taiwan.
[Gau, Susan Shur-Fen] Natl Taiwan Univ, Grad Inst Epidemiol & Prevent Med, Taipei 10764, Taiwan.
RP Gau, SSF (reprint author), Natl Taiwan Univ Hosp, Dept Psychiat, 7 Chung Shan South Rd, Taipei 10002, Taiwan.
EM gaushufe@ntu.edu.tw
FU National Science Council [NSC96-3112-B-002-033, NSC97-3112-B-002-009,
NSC98-3112-B-002-004, NSC 99-3112-B-002-036]; National Taiwan University
[10R81918-03, 101R892103, 102R892103]
FX This work was supported by grants from National Science Council
(NSC96-3112-B-002-033, NSC97-3112-B-002-009, NSC98-3112-B-002-004, and
NSC 99-3112-B-002-036 to SSG) and National Taiwan University (AIM for
Top University Excellent Research Project: 10R81918-03, 101R892103,
102R892103 to SSG). This work was approved by the Research Ethics
Committee of National Taiwan University Hospital (approved number:
9561709027), Taipei, Taiwan; Chang Gung Memorial Hospital (approved
number, 93-6244), Taoyuan, Taiwan; and Taoyuan Mental Hospital (approved
number C20060905), Taoyuan, Taiwan.
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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 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD JUN 25
PY 2014
VL 5
AR 36
DI 10.1186/2040-2392-5-36
PG 13
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AK8HY
UT WOS:000338669700001
PM 24999380
ER
PT J
AU Carver, AR
Andrikopoulou, M
Lei, J
Tamayo, E
Gamble, P
Hou, ZP
Zhang, JY
Mori, S
Saade, GR
Costantine, MM
Burd, I
AF Carver, Alissa R.
Andrikopoulou, Maria
Lei, Jun
Tamayo, Esther
Gamble, Phyllis
Hou, Zhipeng
Zhang, Jiangyang
Mori, Susumu
Saade, George R.
Costantine, Maged M.
Burd, Irina
TI Maternal Pravastatin Prevents Altered Fetal Brain Development in a
Preeclamptic CD-1 Mouse Model
SO PLOS ONE
LA English
DT Article
ID COA REDUCTASE INHIBITORS; NEONATAL HYPOXIA-ISCHEMIA; AUTISM SPECTRUM
DISORDER; SEX-DIFFERENCES; IN-UTERO; CARDIOVASCULAR FUNCTION; PRENATAL
EXPOSURE; GENE-TRANSFER; BIRTH-WEIGHT; MURINE MODEL
AB Objective: Using an animal model, we have previously shown that preeclampsia results in long-term adverse neuromotor outcomes in the offspring, and this phenotype was prevented by antenatal treatment with pravastatin. This study aims to localize the altered neuromotor programming in this animal model and to evaluate the role of pravastatin in its prevention.
Materials and Methods: For the preeclampsia model, pregnant CD-1 mice were randomly allocated to injection of adenovirus carrying sFlt-1 or its control virus carrying mFc into the tail vein. Thereafter they received pravastatin (sFlt-1-pra "experimental group'') or water (sFlt-1 "positive control'') until weaning. The mFc group ("negative control'') received water. Offspring at 6 months of age were sacrificed, and whole brains underwent magnetic resonance imaging (MRI). MRIs were performed using an 11.7 Tesla vertical bore MRI scanner. T2 weighted images were acquired to evaluate the volumes of 28 regions of interest, including areas involved in adaptation and motor, spatial and sensory function. Cytochemistry and cell quantification was performed using neuron-specific Nissl stain. One-way ANOVA with multiple comparison testing was used for statistical analysis.
Results: Compared with control offspring, male sFlt-1 offspring have decreased volumes in the fimbria, periaquaductal gray, stria medullaris, and ventricles and increased volumes in the lateral globus pallidus and neocortex; however, female sFlt-1 offspring showed increased volumes in the ventricles, stria medullaris, and fasciculus retroflexus and decreased volumes in the inferior colliculus, thalamus, and lateral globus pallidus. Neuronal quantification via Nissl staining exhibited decreased cell counts in sFlt-1 offspring neocortex, more pronounced in males. Prenatal pravastatin treatment prevented these changes.
Conclusion: Preeclampsia alters brain development in sex-specific patterns, and prenatal pravastatin therapy prevents altered neuroanatomic programming in this animal model.
C1 [Carver, Alissa R.; Tamayo, Esther; Gamble, Phyllis; Saade, George R.; Costantine, Maged M.] Univ Texas Med Branch, Dept Obstet & Gynecol, Div Maternal Fetal Med, Galveston, TX 77555 USA.
[Andrikopoulou, Maria; Lei, Jun; Burd, Irina] Johns Hopkins Univ, Dept Gynecol & Obstet, Integrated Res Ctr Fetal Med, Div Maternal Fetal Med, Baltimore, MD USA.
[Hou, Zhipeng; Zhang, Jiangyang; Mori, Susumu] Johns Hopkins Univ, Russell H Morgan Dept Radiol & Radiol Sci, Baltimore, MD USA.
RP Carver, AR (reprint author), Univ Texas Med Branch, Dept Obstet & Gynecol, Div Maternal Fetal Med, Galveston, TX 77555 USA.
EM arcarver@utmb.edu
FU NICHD [K08 HD073315]; NIH [RO1 EB003543]; Brain Science Institute, Johns
Hopkins
FX This work was supported by NICHD K08 HD073315 (www.nichd.nih.gov), NIH
RO1 EB003543 (www.nih.gov) and grant support from Brain Science
Institute, Johns Hopkins (www.brainscienceinstitute.org). 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 84
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 JUN 25
PY 2014
VL 9
IS 6
AR e100873
DI 10.1371/journal.pone.0100873
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AK8WO
UT WOS:000338709500093
PM 24963809
ER
PT J
AU Vona, B
Nanda, I
Neuner, C
Schroder, J
Kalscheuer, VM
Shehata-Dieler, W
Haaf, T
AF Vona, Barbara
Nanda, Indrajit
Neuner, Cordula
Schroeder, Joerg
Kalscheuer, Vera M.
Shehata-Dieler, Wafaa
Haaf, Thomas
TI Terminal chromosome 4q deletion syndrome in an infant with hearing
impairment and moderate syndromic features: review of literature
SO BMC MEDICAL GENETICS
LA English
DT Review
DE Genotype-phenotype association; Copy number variation; Parent-of-origin;
SNP array; Terminal 4q deletion syndrome
ID FACTOR-XI DEFICIENCY; 2 UNRELATED PATIENTS; CRITICAL REGION; LONG ARM;
ARRAY-CGH; 1 GENE; INDIVIDUALS; 4Q-SYNDROME; MICE; IMBALANCES
AB Background: Terminal deletions of chromosome 4q are associated with a broad spectrum of phenotypes including cardiac, craniofacial, digital, and cognitive impairment. The rarity of this syndrome renders genotype-phenotype correlation difficult, which is further complicated by the widely different phenotypes observed in patients sharing similar deletion intervals.
Case presentation: Herein, we describe a boy with congenital hearing impairment and a variety of moderate syndromic features that prompted SNP array analysis disclosing a heterozygous 6.9 Mb deletion in the 4q35.1q35.2 region, which emerged de novo in the maternal germ line.
Conclusion: In addition to the index patient, we review 35 cases from the literature and DECIPHER database to attempt genotype-phenotype correlations for a syndrome with great phenotypic variability. We delineate intervals with recurrent phenotypic overlap, particularly for cleft palate, congenital heart defect, intellectual disability, and autism spectrum disorder. Broad phenotypic presentation of the terminal 4q deletion syndrome is consistent with incomplete penetrance of the individual symptoms.
C1 [Vona, Barbara; Nanda, Indrajit; Neuner, Cordula; Schroeder, Joerg; Haaf, Thomas] Univ Wurzburg, Biozentrum, Inst Human Genet, D-97074 Wurzburg, Germany.
[Kalscheuer, Vera M.] Max Planck Inst Mol Genet, Dept Human Mol Genet, D-14195 Berlin, Germany.
[Shehata-Dieler, Wafaa] Comprehens Hearing Ctr, Dept ORL Plast Aesthet & Reconstruct Head & Neck, Wurzburg, Germany.
RP Haaf, T (reprint author), Univ Wurzburg, Biozentrum, Inst Human Genet, D-97074 Wurzburg, Germany.
EM thomas.haaf@uni-wuerzburg.de
FU German Research Foundation [HA 1374/7-2]; University of Wurzburg
FX The authors are grateful for the participation of the family for their
willingness to engage in this study. We also thank Prof. Dr. Holger
Thiele from the Cologne Center for Genomics for constructive dialogue
about HaploPainter, Dr. Christopher Riley at Phoenix Children's Hospital
for clinical assessment, and Andrea Horning for assistance with
karyotype analysis. This work was supported by the German Research
Foundation (grant no. HA 1374/7-2) and the University of Wurzburg in the
funding programme Open Access Publishing.
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NR 46
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-2350
J9 BMC MED GENET
JI BMC Med. Genet.
PD JUN 25
PY 2014
VL 15
AR 72
DI 10.1186/1471-2350-15-72
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AK2QZ
UT WOS:000338265600001
PM 24962056
ER
PT J
AU Austin, G
Groppe, K
Elsner, B
AF Austin, Gina
Groppe, Karoline
Elsner, Birgit
TI The reciprocal relationship between executive function and theory of
mind in middle childhood: a 1-year longitudinal perspective
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE executive function; theory of mind; longitudinal; middle childhood;
attention shifting; inhibition; working memory updating
ID INDIVIDUAL-DIFFERENCES; INHIBITORY CONTROL; CHILDRENS THEORY;
WORKING-MEMORY; BELIEF; PRESCHOOLERS; AUTISM; ADULTS; TASKS; LINKS
AB There is robust evidence showing a link between executive function (EF) and theory of mind (ToM) in 3-to 5-year-olds. However, it is unclear whether this relationship extends to middle childhood. In addition, there has been much discussion about the nature of this relationship. Whereas some authors claim that ToM is needed for EF, others argue that ToM requires EF. To date, however, studies examining the longitudinal relationship between distinct sub components of EF [i.e., attention shifting, working memory (WM) updating, inhibition] and ToM in middle childhood are rare. The present study examined (1) the relationship between three EF subcomponents (attention shifting, WM updating, inhibition) and ToM in middle childhood, and (2) the longitudinal reciprocal relationships between the EF subcomponents and ToM across a 1-year period. EF and ToM measures were assessed experimentally in a sample of 1,657 children (aged 6-11 years) at time point one (t1) and 1 year later at time point two (t2). Results showed that the concurrent relationships between all three EF subcomponents and ToM pertained in middle childhood at t1 and t2, respectively, even when age, gender, and fluid intelligence were partialle dout. Moreover, cross-lagged structural equation modeling (again, controlling for age, gender, and fluid intelligence, as well as for the earlier levels of the target variables), revealed partial support for the view that early ToM predictslater EF, but stronger evidence for the assumption that early EF predictslater ToM. The latter was found for attention shifting and WM updating, but not for inhibition. This reveals the importance of studying the exact interplay of ToM and EF across childhood development, especially with regard to different EF subcomponents. Most likely, understanding others' mental states at different levels of perspective-taking requires specific EF subcomponents, suggesting developmental change in the relations between EF and ToM across childhood.
C1 [Austin, Gina; Groppe, Karoline; Elsner, Birgit] Univ Potsdam, Dept Psychol, D-14476 Potsdam, Germany.
RP Austin, G (reprint author), Univ Potsdam, Dept Psychol, Karl Liebknecht St 24-25, D-14476 Potsdam, Germany.
EM gina.austin@uni-potsdam.de
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NR 65
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 JUN 24
PY 2014
VL 5
AR 655
DI 10.3389/fpsyg.2014.00655
PG 11
WC Psychology, Multidisciplinary
SC Psychology
GA AK9CG
UT WOS:000338724500001
PM 25009527
ER
PT J
AU [Anonymous]
AF [Anonymous]
TI GENE DELETION LINKED TO AUTISM IN MICE
SO CHEMICAL & ENGINEERING NEWS
LA English
DT News Item
NR 0
TC 0
Z9 0
PU AMER CHEMICAL SOC
PI WASHINGTON
PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA
SN 0009-2347
EI 1520-605X
J9 CHEM ENG NEWS
JI Chem. Eng. News
PD JUN 23
PY 2014
VL 92
IS 25
BP 29
EP 29
PG 1
WC Chemistry, Multidisciplinary; Engineering, Chemical
SC Chemistry; Engineering
GA AR2DK
UT WOS:000343393600039
ER
PT J
AU Kondapalli, KC
Prasad, H
Rao, R
AF Kondapalli, Kalyan C.
Prasad, Hari
Rao, Rajini
TI An inside job: how endosomal Na+/H+ exchangers link to autism and
neurological disease
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Review
DE SLC9A9; SLC9A6; sodium proton exchanger; autism; Christianson syndrome;
ADHD; endosomes; trafficking
ID DEFICIT HYPERACTIVITY DISORDER; ATTENTION-DEFICIT/HYPERACTIVITY
DISORDER; GENOME-WIDE ASSOCIATION; SEVERE MENTAL-RETARDATION; LONG-TERM
POTENTIATION; ANGELMAN-LIKE SYNDROME; CHRISTIANSON SYNDROME; SYNAPTIC
VESICLES; SLC9A6 GENE; RECYCLING ENDOSOMES
AB Autism imposes a major impediment to childhood development and a huge emotional and financial burden on society. In recent years, there has been rapidly accumulating genetic evidence that links the eNHE, a subset of Na+/H+ exchangers that localize to intracellular vesicles, to a variety of neurological conditions including autism, attention deficit hyperactivity disorder (ADHD), intellectual disability, and epilepsy. By providing a leak pathway for protons pumped by the V-ATPase, eNHE determine luminal pH and regulate cation (Na+, K+) content in early and recycling endosomal compartments. Loss-of-function mutations in eNHE cause hyperacidification of endosomal lumen, as a result of imbalance in pump and leak pathways. Two isoforms, NHE6 and NHE9 are highly expressed in brain, including hippocampus and cortex. Here, we summarize evidence for the importance of luminal cation content and pH on processing, delivery and fate of cargo. Drawing upon insights from model organisms and mammalian cells we show how eNHE affect surface expression and function of membrane receptors and neurotransmitter transporters. These studies lead to cellular models of eNHE activity in pre- and post-synaptic neurons and astrocytes, where they could impact synapse development and plasticity. The study of eNHE has provided new insight on the mechanism of autism and other debilitating neurological disorders and opened up new possibilities for therapeutic intervention.
C1 [Kondapalli, Kalyan C.; Prasad, Hari; Rao, Rajini] Johns Hopkins Univ, Sch Med, Dept Physiol, Baltimore, MD 21205 USA.
RP Rao, R (reprint author), Johns Hopkins Univ, Sch Med, Dept Physiol, 725 N Wolfe St, Baltimore, MD 21205 USA.
EM rrao@jhmi.edu
FU NIH [DK054214]; AHA postdoctoral fellowship [11POST7380034];
International Fulbright Science and Technology
FX This work was supported by a grant from the NIH (DK054214) to Rajini Rao
and an AHA postdoctoral fellowship (11POST7380034) to Kalyan C.
Kondapalli and International Fulbright Science and Technology Award to
Hari Prasad.
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NR 148
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 JUN 23
PY 2014
VL 8
AR 172
DI 10.3389/fncel.2014.00172
PG 21
WC Neurosciences
SC Neurosciences & Neurology
GA AJ5MP
UT WOS:000337727700001
PM 25002837
ER
PT J
AU Kessler, K
Cao, LY
O'Shea, KJ
Wang, HF
AF Kessler, Klaus
Cao, Liyu
O'Shea, Kieran J.
Wang, Hongfang
TI A cross-culture, cross-gender comparison of perspective taking
mechanisms
SO PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
LA English
DT Article
DE perspective taking; embodied transformation; line of sight; culture
differences; gender differences; egocentric bias
ID SOCIAL COGNITION; SPECIES FOLLOW; CHILDREN; HUMANS; GAZE; DISSOCIATION;
PERCEPTION; AUTISM; ADULTS; SKILLS
AB Being able to judge another person's visuo-spatial perspective is an essential social skill, hence we investigated the generalizability of the involved mechanisms across cultures and genders. Developmental, cross-species, and our own previous research suggest that two different forms of perspective taking can be distinguished, which are subserved by two distinct mechanisms. The simpler form relies on inferring another's line-of-sight, whereas the more complex form depends on embodied transformation into the other's orientation in form of a simulated body rotation. Our current results suggest that, in principle, the same basic mechanisms are employed by males and females in both, East-Asian (EA; Chinese) and Western culture. However, we also confirmed the hypothesis that Westerners show an egocentric bias, whereas EAs reveal an other-oriented bias. Furthermore, Westerners were slower overall than EAs and showed stronger gender differences in speed and depth of embodied processing. Our findings substantiate differences and communalities in social cognition mechanisms across genders and two cultures and suggest that cultural evolution or transmission should take gender as a modulating variable into account.
C1 [Kessler, Klaus; Cao, Liyu; O'Shea, Kieran J.; Wang, Hongfang] Univ Glasgow, Inst Neurosci & Psychol, Glasgow, Lanark, Scotland.
[Kessler, Klaus; Wang, Hongfang] Aston Univ, Aston Brain Ctr, Birmingham B4 7ET, W Midlands, England.
RP Kessler, K (reprint author), Univ Glasgow, Inst Neurosci & Psychol, Glasgow, Lanark, Scotland.
EM k.kessler@aston.ac.uk
FU ESRC [RES-000-22-4325]
FX This research was supported by ESRC funding to K.K. (RES-000-22-4325).
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NR 42
TC 2
Z9 2
PU ROYAL SOC
PI LONDON
PA 6-9 CARLTON HOUSE TERRACE, LONDON SW1Y 5AG, ENGLAND
SN 0962-8452
EI 1471-2954
J9 P ROY SOC B-BIOL SCI
JI Proc. R. Soc. B-Biol. Sci.
PD JUN 22
PY 2014
VL 281
IS 1785
AR 20140388
DI 10.1098/rspb.2014.0388
PG 9
WC Biology; Ecology; Evolutionary Biology
SC Life Sciences & Biomedicine - Other Topics; Environmental Sciences &
Ecology; Evolutionary Biology
GA AH0LT
UT WOS:000335812100020
PM 24807256
ER
PT J
AU Zerbo, O
Yoshida, C
Grether, JK
Van de Water, J
Ashwood, P
Delorenze, GN
Hansen, RL
Kharrazi, M
Croen, LA
AF Zerbo, Ousseny
Yoshida, Cathleen
Grether, Judith K.
Van de Water, Judy
Ashwood, Paul
Delorenze, Gerald N.
Hansen, Robin L.
Kharrazi, Marty
Croen, Lisa A.
TI Neonatal cytokines and chemokines and risk of Autism Spectrum Disorder:
the Early Markers for Autism (EMA) study: a case-control study
SO JOURNAL OF NEUROINFLAMMATION
LA English
DT Article
DE Newborn; Cytokines; Chemokines; Autism spectrum disorders
ID HISTORIC BIRTH COHORT; IMMUNE-RESPONSE; CHILDREN; BRAIN; DYSFUNCTION;
PREGNANCY; IMMUNOGLOBULIN; PREVALENCE; ACTIVATION; INFECTION
AB Background: Biologic markers of infection and inflammation have been associated with Autism Spectrum Disorders (ASD) but prior studies have largely relied on specimens taken after clinical diagnosis. Research on potential biologic markers early in neurodevelopment is required to evaluate possible causal pathways and screening profiles.
Objective: To investigate levels of cytokines and chemokines in newborn blood specimens as possible early biologic markers for autism.
Methods: We conducted a population-based case-control study nested within the cohort of infants born from July 2000 to September 2001 to women who participated in the prenatal screening program in Orange County, California, USA. The study population included children ascertained from the California Department of Developmental Services with Autism Spectrum Disorder (ASD, n = 84), or developmental delay but not ASD (DD, n = 49), and general population controls randomly sampled from the birth certificate files and frequency matched to ASD cases on sex, birth month and birth year (GP, n = 159). Cytokine and chemokine concentrations were measured in archived neonatal blood specimens collected for routine newborn screening.
Results: Cytokines were not detected in the vast majority of newborn samples regardless of case or control status. However, the chemokine monocyte chemotactic protein-1 (MCP-1) was elevated and the chemokine Regulated upon Activation Normal T-Cell Expressed and Secreted (RANTES) was decreased in ASD cases compared to GP controls. The chemokines macrophage inflammatory protein-1alpha (MIP-1 alpha) and RANTES were decreased in children with DD compared to GP controls.
Conclusion: Measurement of immune system function in the first few days of life may aid in the early identification of abnormal neurodevelopment and shed light on the biologic mechanisms underlying normal neurodevelopment.
C1 [Zerbo, Ousseny; Yoshida, Cathleen; Grether, Judith K.; Delorenze, Gerald N.; Croen, Lisa A.] Kaiser Permanente No Calif, Div Res, Oakland, CA 94612 USA.
[Grether, Judith K.; Kharrazi, Marty] Calif Dept Publ Hlth, Environm Hlth Invest Branch, Richmond, CA 94804 USA.
[Van de Water, Judy] Univ Calif Davis, Div Rheumatol Allergy & Clin Immunol, Davis, CA 95616 USA.
[Van de Water, Judy; Ashwood, Paul; Hansen, Robin L.] Univ Calif Davis, MIND Inst, Sacramento, CA 95817 USA.
[Ashwood, Paul] Univ Calif Davis, Dept Med Microbiol & Immunol, Davis, CA 95616 USA.
[Hansen, Robin L.] Dept Pediat, Sacramento, CA 95817 USA.
RP Zerbo, O (reprint author), Kaiser Permanente No Calif, Div Res, Oakland, CA 94612 USA.
EM ousseny.x.zerbo@kp.org
FU National Institute of Environmental Health Sciences [3R01ES016669];
National Institute of Mental Health [5R01MH072565]
FX The study was supported by grants 3R01ES016669 from National Institute
of Environmental Health Sciences; 5R01MH072565 from the National
Institute of Mental Health.
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NR 45
TC 2
Z9 2
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 JUN 20
PY 2014
VL 11
AR 113
DI 10.1186/1742-2094-11-113
PG 9
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA AL0AR
UT WOS:000338790200001
PM 24951035
ER
PT J
AU Lorenz, T
Heinitz, K
AF Lorenz, Timo
Heinitz, Kathrin
TI Aspergers - Different, Not Less: Occupational Strengths and Job
Interests of Individuals with Asperger's Syndrome
SO PLOS ONE
LA English
DT Article
ID SELF-EFFICACY; AUTISM; ADULTS; WORK; METAANALYSIS; EXPERIENCES;
THINKING; ABILITY; TALENT; FIT
AB Rooted in the neurodiversity approach, this study provides an overview of the strengths and interests of individuals with Asperger's Syndrome. We interviewed136 individuals with Asperger's Syndrome and 155 neurotypical individuals via an online survey with regards to (a) demography, (b) occupational strengths, (c) general self-efficacy, (d) occupational self-efficacy, and (e) the job interest profile according to Holland. The vocational and educational fields of the individuals with Asperger's in the sample are more diverse than and surpass those classical fields stated in research and biographical literature. The comparison of both groups in cross-tables showed that the indicated strengths differ in several areas (Phi(Cramer) =.02-.47), which means that a specific strength profile can be derived, and this profile goes beyond the clinical view of the diagnostic criteria. Individuals with Asperger's indicate lower self-efficacy, both general and occupational. Furthermore, a high concentration of individuals with Asperger's can be found in the areas I (Investigative) and C (Conventional) of Holland's RIASEC model.
C1 [Lorenz, Timo; Heinitz, Kathrin] Free Univ Berlin, Dept Psychol, Berlin, Germany.
RP Lorenz, T (reprint author), Free Univ Berlin, Dept Psychol, Berlin, Germany.
EM timo.lorenz@fu-berlin.de
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NR 51
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 JUN 20
PY 2014
VL 9
IS 6
AR e100358
DI 10.1371/journal.pone.0100358
PG 8
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AK2UZ
UT WOS:000338276300068
PM 24950060
ER
PT J
AU Bailus, BJ
Segal, DJ
AF Bailus, Barbara J.
Segal, David J.
TI The prospect of molecular therapy for Angelman syndrome and other
monogenic neurologic disorders
SO BMC NEUROSCIENCE
LA English
DT Review
DE Artificial transcription factor; Engineered zinc finger; TALE; CRISPR;
Gene regulation; Gene therapy; Blood-brain barrier; Angelman syndrome;
Autism spectrum disorders
ID ZINC-FINGER PROTEINS; ARTIFICIAL TRANSCRIPTION FACTORS; LONG-TERM
POTENTIATION; GENE-THERAPY; MOUSE MODEL; UBIQUITIN LIGASE;
BUILDING-BLOCKS; DNA RECOGNITION; KINASE-II; EXPRESSION
AB Background: Angelman syndrome is a monogenic neurologic disorder that affects 1 in 15,000 children, and is characterized by ataxia, intellectual disability, speech impairment, sleep disorders, and seizures. The disorder is caused by loss of central nervous system expression of UBE3A, a gene encoding a ubiquitin ligase. Current treatments focus on the management of symptoms, as there have not been therapies to treat the underlying molecular cause of the disease. However, this outlook is evolving with advances in molecular therapies, including artificial transcription factors a class of engineered DNA-binding proteins that have the potential to target a specific site in the genome.
Results: Here we review the recent progress and prospect of targeted gene expression therapies. Three main issues that must be addressed to advance toward human clinical trials are specificity, toxicity, and delivery.
Conclusions: Artificial transcription factors have the potential to address these concerns on a level that meets and in some cases exceeds current small molecule therapies. We examine the possibilities of such approaches in the context of Angelman syndrome, as a template for other single-gene, neurologic disorders.
C1 [Segal, David J.] Univ Calif Davis, MIND Inst, Genome Ctr, Davis, CA 95616 USA.
Univ Calif Davis, Dept Biochem & Mol Med, Davis, CA 95616 USA.
RP Segal, DJ (reprint author), Univ Calif Davis, MIND Inst, Genome Ctr, Davis, CA 95616 USA.
EM djsegal@ucdavis.edu
FU National Institutes of Health [NS071028]; Angelman Syndrome Foundation;
Foundation for Angelman Syndrome Therapeutics; NSF graduate fellowship
[0707429]; Howard Hughes Medical Institute through the Med into Grad
Initiative [56005706]
FX This work was supported by the National Institutes of Health (NS071028),
the Angelman Syndrome Foundation, and the Foundation for Angelman
Syndrome Therapeutics. BJB was also supported by an NSF graduate
fellowship (0707429) and a grant to UC Davis from the Howard Hughes
Medical Institute through the Med into Grad Initiative (56005706).
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NR 60
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-2202
J9 BMC NEUROSCI
JI BMC Neurosci.
PD JUN 19
PY 2014
VL 15
AR 76
DI 10.1186/1471-2202-15-76
PG 7
WC Neurosciences
SC Neurosciences & Neurology
GA AK8IP
UT WOS:000338671400001
PM 24946931
ER
EF