FN Thomson Reuters Web of Science™
VR 1.0
PT J
AU Figueroa, AM
Juarez-Ramirez, R
Inzunza, S
Valenzuela, R
AF Mejia Figueroa, Andres
Juarez-Ramirez, Reyes
Inzunza, Sergio
Valenzuela, Rocio
TI Implementing adaptive interfaces: a user model for the development of
usability in interactive systems
SO COMPUTER SYSTEMS SCIENCE AND ENGINEERING
LA English
DT Article
DE User models; User-Centered Design; Human-Centered Design; User Interface
Design
ID AUTISM SPECTRUM DISORDERS; CHILDREN; DESIGN
AB The current user-centered software development approaches place special emphasis on the characteristics of the user and the tasks to be accomplished, because these greatly affect the way the user interacts with the system. To be sure, most researchers on the subject propose some user characteristics. However, there is still no model that integrates most, if not all, of these characteristics, such as psychological, cognitive, and physical. In this paper, we propose an initial user model integrating most of the user characteristics, while also taking into account some aspects of the characteristics of special needs users, in this case an autistic user, with the purpose of developing an adaptive software interface, improving the overall usability of any system. The model draws on different disciplines, such as medicine and sociology, and the experiences of their practitioners. In order to validate the model, we have tested the user interfaces for various real projects, taking into account the characteristics of the real users. We have also presented an example of how a user interface can be adapted for a specific set of user capabilities.
C1 [Mejia Figueroa, Andres; Juarez-Ramirez, Reyes; Inzunza, Sergio; Valenzuela, Rocio] Autonomous Univ Baja Calif, Sch Chem Sci & Engn, Tijuana, Baja California, Mexico.
RP Figueroa, AM (reprint author), Autonomous Univ Baja Calif, Sch Chem Sci & Engn, Tijuana, Baja California, Mexico.
EM mejia.andres@uabc.edu.mx; reyesjua@uabc.edu.mx; sinzunza@uabc.edu.mx;
rocio.v.magdaleno@uabc.edu.mx
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NR 42
TC 0
Z9 0
PU C R L PUBLISHING LTD
PI LEICESTER
PA 5 WEIR RD, KIBWORTH BEAUCHAMP, LEICESTER LE8 0LQ, ENGLAND
SN 0267-6192
J9 COMPUT SYST SCI ENG
JI Comput. Syst. Sci. Eng.
PD JAN
PY 2014
VL 29
IS 1
SI SI
BP 95
EP 104
PG 10
WC Computer Science, Hardware & Architecture; Computer Science, Theory &
Methods
SC Computer Science
GA AD4PL
UT WOS:000333232900009
ER
PT J
AU Jacob, J
Ribes, V
Moore, S
Constable, SC
Sasai, N
Gerety, SS
Martin, DJ
Sergeant, CP
Wilkinson, DG
Briscoe, J
AF Jacob, John
Ribes, Vanessa
Moore, Steven
Constable, Sean C.
Sasai, Noriaki
Gerety, Sebastian S.
Martin, Darren J.
Sergeant, Chris P.
Wilkinson, David G.
Briscoe, James
TI Valproic acid silencing of ascl1b/Ascl1 results in the failure of
serotonergic differentiation in a zebrafish model of fetal valproate
syndrome
SO DISEASE MODELS & MECHANISMS
LA English
DT Article
DE Serotonin; Fetal valproate syndrome; Zebrafish; Notch; Proneural gene;
Hdac1
ID PERVASIVE DEVELOPMENTAL DISORDERS; AUTISM SPECTRUM DISORDERS; HISTONE
DEACETYLASE; TRANSCRIPTIONAL REPRESSION; NERVOUS-SYSTEM; SOMITE
DEVELOPMENT; PRENATAL EXPOSURE; CYCLOPS MUTANT; MOUSE MODEL; IN-VIVO
AB Fetal valproate syndrome (FVS) is caused by in utero exposure to the drug sodium valproate. Valproate is used worldwide for the treatment of epilepsy, as a mood stabiliser and for its pain-relieving properties. In addition to birth defects, FVS is associated with an increased risk of autism spectrum disorder (ASD), which is characterised by abnormal behaviours. Valproate perturbs multiple biochemical pathways and alters gene expression through its inhibition of histone deacetylases. Which, if any, of these mechanisms is relevant to the genesis of its behavioural side effects is unclear. Neuroanatomical changes associated with FVS have been reported and, among these, altered serotonergic neuronal differentiation is a consistent finding. Altered serotonin homeostasis is also associated with autism. Here we have used a chemical-genetics approach to investigate the underlying molecular defect in a zebrafish FVS model. Valproate causes the selective failure of zebrafish central serotonin expression. It does so by downregulating the proneural gene ascl1b, an ortholog of mammalian Ascl1, which is a known determinant of serotonergic identity in the mammalian brainstem. ascl1b is sufficient to rescue serotonin expression in valproate-treated embryos. Chemical and genetic blockade of the histone deacetylase Hdac1 downregulates ascl1b, consistent with the Hdac1-mediated silencing of ascl1b expression by valproate. Moreover, tonic Notch signalling is crucial for ascl1b repression by valproate. Concomitant blockade of Notch signalling restores ascl1b expression and serotonin expression in both valproate-exposed and hdac1 mutant embryos. Together, these data provide a molecular explanation for serotonergic defects in FVS and highlight an epigenetic mechanism for genome-environment interaction in disease.
C1 [Jacob, John; Ribes, Vanessa; Moore, Steven; Sasai, Noriaki; Briscoe, James] Natl Inst Med Res, MRC, Div Dev Biol, London NW7 1AA, England.
[Jacob, John] Natl Hosp Neurol & Neurosurg, London WC1N 3BG, England.
[Constable, Sean C.; Gerety, Sebastian S.; Wilkinson, David G.] Natl Inst Med Res, MRC, Div Dev Neurobiol, London NW7 1AA, England.
[Martin, Darren J.; Sergeant, Chris P.] Lincolns Inn Fields Labs, Canc Res UK, London Res Inst, London WC2A 3LY, England.
RP Jacob, J (reprint author), Natl Inst Med Res, MRC, Div Dev Biol, Mill Hill, London NW7 1AA, England.
EM jjacob@nimr.mrc.ac.uk; jbrisco@nimr.mrc.ac.uk
FU Autism Speaks Grant [1299]; MRC [U117560541]
FX This work was funded by an Autism Speaks Grant (#1299) to Alex Gould and
J.B. and by the MRC (U117560541).
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NR 103
TC 3
Z9 3
PU COMPANY OF BIOLOGISTS LTD
PI CAMBRIDGE
PA BIDDER BUILDING CAMBRIDGE COMMERCIAL PARK COWLEY RD, CAMBRIDGE CB4 4DL,
CAMBS, ENGLAND
SN 1754-8403
EI 1754-8411
J9 DIS MODEL MECH
JI Dis. Model. Mech.
PD JAN
PY 2014
VL 7
IS 1
BP 107
EP 117
DI 10.1242/dmm.013219
PG 11
WC Cell Biology; Pathology
SC Cell Biology; Pathology
GA AD7QB
UT WOS:000333457700013
PM 24135485
ER
PT J
AU Celik, D
Elci, A
Inan, N
Elverici, E
Elci, A
AF Celik, Duygu
Elci, Atilla
Inan, Necati
Elverici, Eray
Elci, Alev
TI Educational Activity Discovery System for Individuals with Pervasive
Developmental Disorders through Web Ontology Language (OWL)
SO EGITIM VE BILIM-EDUCATION AND SCIENCE
LA Turkish
DT Article
DE Pervasive Developmental Disorders; Autism; Rett Syndrome; Disintegrative
Disorder of Childhood; Asperger's Syndrome; Atypical Autism; Ontology;
Semantic Web; Semantic Search Systems
ID SPECTRUM DISORDERS; PLAY
AB Today, experts and organizations dealing with pervasive developmental disorder are trying to minimize the experienced problems of the individuals with educational methods chosen carefully after extensive research. However, because of various reasons the relatives of the individuals who cannot reach these organizations are trying to give proper education at home. During these trainings while selecting the educational methods they prefer internet and related software. However, today's static based internet and related software can be insufficient to supple desired result for the individual's needs.
In this article, the architecture of Agent-based Educational Activity Discovery System which can operate on semantic base and propose educational methods for parents, pre-school educators, experts that are working for these institutions, university students studying in related fields or individuals interested in pervasive developmental disorder is presented. The ontology knowledgebase of this system is developed by using the OWL (Web Ontology Language) while creating its entire concepts, features, and relations between these concepts about pervasive developmental disorders are defined in ontology.
C1 [Celik, Duygu] Istanbul Aydin Univ, Muh Fak, Bilgisayar Muhendisligi Bolumu, Istanbul, Turkey.
[Elci, Atilla] Aksaray Univ, Elekt Elekt Muhendisligi Bolumu, Aksaray, Turkey.
[Inan, Necati] Mehmetcik IHOO, Istanbul, Turkey.
[Elverici, Eray] Ozel Ugur Ilkogretim Okulu, Istanbul, Turkey.
[Elci, Alev] Aksaray Univ, Yonetim Bilisim Sistemleri Bolumu, Aksaray, Turkey.
RP Celik, D (reprint author), Istanbul Aydin Univ, Muh Fak, Bilgisayar Muhendisligi Bolumu, Istanbul, Turkey.
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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 JAN
PY 2014
VL 39
IS 171
BP 52
EP 73
PG 22
WC Education & Educational Research
SC Education & Educational Research
GA AC7YL
UT WOS:000332750100006
ER
PT J
AU Elicin, O
Avcioglu, H
AF Elicin, Ozge
Avcioglu, Hasan
TI Effectiveness of Teaching Via Scripts and Script Fading Methods for
Children With Autism in Acquiring The Skill of Discriminating Emotions
SO EGITIM VE BILIM-EDUCATION AND SCIENCE
LA Turkish
DT Article
DE Autism; Emotions Discrimination; Scripts and Script Fading Procedure
ID SOCIAL-INTERACTION SKILLS; RECOGNITION
AB The purpose of this study is to determine the effectiveness of teaching via scripts and script fading method for students with autism to acquire discrimination skill of emotions. This study is carried out with 3 students with autism. An Activity Schedule, consisting of 12 illustrated cards are prepared to explain the attitudes of emotions. Teaching method of scripts and script fading is applied at teaching sessions. The model of multiple probe design between subjects, takes place in research models of single subject design, is used in the study. This study consists of application, probe, teaching, generalization and follow-up phases. At the end of the study, it is found out that teaching via scripts and script fading method is effective on the acquisition of the skills of discriminating emotions for children with autism.
C1 [Elicin, Ozge] Maltepe Univ, Egitim Fak, Ozel Egitim Bolumu, Istanbul, Turkey.
[Avcioglu, Hasan] Abant Izzet Baysal Univ, Egitim Fak, Ozel Egitim Bolumu, Bolu, Turkey.
RP Elicin, O (reprint author), Maltepe Univ, Egitim Fak, Ozel Egitim Bolumu, Istanbul, Turkey.
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NR 33
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 JAN
PY 2014
VL 39
IS 171
BP 317
EP 330
PG 14
WC Education & Educational Research
SC Education & Educational Research
GA AC7YL
UT WOS:000332750100023
ER
PT J
AU Egger, JIM
Verhoeven, WMA
Verbeeck, W
de Leeuw, N
AF Egger, Jos I. M.
Verhoeven, Willem M. A.
Verbeeck, Wim
de Leeuw, Nicole
TI Neuropsychological phenotype of a patient with a de novo 970 kb
interstitial deletion in the distal 16p11.2 region
SO NEUROPSYCHIATRIC DISEASE AND TREATMENT
LA English
DT Article
DE SNP array; microdeletion; distal 16p11.2; neuropsychological phenotype;
social cognition
ID MICRODELETION SYNDROME; DEVELOPMENTAL DELAY; CHROMOSOME 16P11.2;
OBESITY; MICROARRAYS; IMBALANCE
AB The 16p11.2 microdeletion syndrome is characterized by a wide range of phenotypic expressions and is frequently associated with developmental delay, symptoms from the autism spectrum, epilepsy, congenital anomalies, and obesity. These phenotypes are often related to a proximal 16p11.2 deletion of approximately 600 kb (BP4-BP5) that includes the SH2B1 gene that is reported to be causative for morbid obesity. This more centromeric deletion is most strongly related to autism spectrum susceptibility and is functionally different from the more distal 16p12.2p11.2 region, which includes the so-called atypical 16p11.2 BP2-BP3 deletion (approximately 220 kb) presenting with developmental delay, behavioral problems and mild facial dysmorphisms. Here, an adult male with a long history of maladaptive behaviors is described who was referred for diagnostic assessment of his amotivational features. Extensive neuropsychological examination demonstrated rigid thinking, anxious beliefs, and ideas of reference in the presence of normal intelligence. Microarray analysis demonstrated a de novo 970 kb 16p11.2 BP1-BP4 microdeletion that can be regarded as explanatory for his behavioral profile. It is concluded that microdeletion syndromes are not exclusively related to intellectual disabilities and genetic testing is of putative relevance for the understanding of neuropsychiatric and neuropsychological phenomena.
C1 [Egger, Jos I. M.; Verhoeven, Willem M. A.] Ctr Excellence Neuropsychiat, Vincent van Gogh Inst Psychiat, NL-5803 AC Venray, Netherlands.
[Egger, Jos I. M.] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands.
[Egger, Jos I. M.] Radboud Univ Nijmegen, Behav Sci Inst, NL-6525 ED Nijmegen, Netherlands.
[Verhoeven, Willem M. A.] Erasmus Univ, Med Ctr, Dept Psychiat, Rotterdam, Netherlands.
[Verbeeck, Wim] Ctr Autism, Vincent van Gogh Inst Psychiat, Venray, Netherlands.
[Verbeeck, Wim] ADHD, Venray, Netherlands.
[de Leeuw, Nicole] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.
RP Egger, JIM (reprint author), Ctr Excellence Neuropsychiat, Vincent van Gogh Inst Psychiat, Stationsweg 46, NL-5803 AC Venray, Netherlands.
EM j.egger@psych.ru.nl
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NR 19
TC 0
Z9 0
PU DOVE MEDICAL PRESS LTD
PI ALBANY
PA PO BOX 300-008, ALBANY, AUCKLAND 0752, NEW ZEALAND
SN 1176-6328
EI 1178-2021
J9 NEUROPSYCH DIS TREAT
JI Neuropsychiatr. Dis. Treat.
PY 2014
VL 10
BP 513
EP 517
DI 10.2147/NDT.S58684
PG 5
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AD6SB
UT WOS:000333390100001
PM 24707176
ER
PT J
AU Musumeci, G
Loreto, C
Trovato, FM
Giunta, S
Imbesi, R
Castrogiovanni, P
AF Musumeci, Giuseppe
Loreto, Carla
Trovato, Francesca Maria
Giunta, Salvatore
Imbesi, Rosa
Castrogiovanni, Paola
TI Serotonin (5HT) expression in rat pups treated with high-tryptophan diet
during fetal and early postnatal development
SO ACTA HISTOCHEMICA
LA English
DT Article
DE Tryptophan; Serotonin; Growth hormone; Survival; Histology; Diet; Rat
ID GROWTH-HORMONE; PERINATAL TREATMENT; BRAIN-DEVELOPMENT;
5-HYDROXYTRYPTOPHAN; CONSEQUENCES; RELEASE; BINDING; AUTISM; TISSUE;
CELLS
AB Serotonin (5HT) is a neurotransmitter synthesized in serotonergic neurons of the central nervous system and in the enterochromaffin cells of the gastrointestinal tract. 5HT regulates growth and maturation of some cerebral regions in the developing brain as well as the secretion of pituitary growth hormone. This hormone is necessary for development and growth through the stimulation of insulin-like growth factor synthesis. The precursor of 5HT, tryptophan (Trp), is an essential amino acid, since the human organism is unable to synthesize it and it is assumed only through diet. The aim of our study was to analyze how a high-tryptophan diet in pregnant rats affects growth and survival of pups until weaning. We monitored the number and weight of pups until weaning. Then, we detected serotonin and growth hormone levels in whole blood by ELISA of surviving pups at the end of the lactation period. We also analyzed by means of immunohistochemistry and Western blot the expression of serotonin in rat gastric tissue and the morphological structure of skeletal muscle tissue of both control and experimental pups. Hyperserotonemia and very low levels of growth hormone were detected in experimental pups compared to controls. Immunohistochemistry demonstrated a strong serotonin expression in stomach samples confirming that a high intake of tryptophan increases the production of serotonin in enterochromaffin cells, thereby resulting in hyperserotonemia in pups. These data were also strengthened by Western blot analysis. Histological alterations of skeletal muscle fibers in experimental pups were found and showed that in experimental samples the muscle tissue demonstrated deleterious alterations, being less developed and defined: Our data suggest that a high-tryptophan diet in pregnant rats induces hyperserotonemia in the fetus. Hyperserotonemia results in an excess of serotonin in the brain where it has a negative influence on development of serotonergic neurons and consequently on growth hormone production. (C) 2013 Elsevier GmbH. All rights reserved.
C1 [Musumeci, Giuseppe; Loreto, Carla; Giunta, Salvatore; Imbesi, Rosa; Castrogiovanni, Paola] Univ Catania, Dept Biomed Sci, Human Anat & Histol Div, I-95124 Catania, Italy.
[Trovato, Francesca Maria] Univ Catania, Div Internal Med, Dept Med & Pediat Sci, I-95124 Catania, Italy.
RP Musumeci, G (reprint author), Univ Catania, Dept Biomed Sci, Human Anat & Histol Div, I-95124 Catania, Italy.
EM g.musumeci@unict.it
FU Department of Bio-Medical Sciences, University of Catania
FX The study was funded by the Department of Bio-Medical Sciences,
University of Catania. The authors would like to thank Prof. Iain
Halliday for commenting and making corrections to the paper.
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NR 39
TC 1
Z9 1
PU ELSEVIER GMBH, URBAN & FISCHER VERLAG
PI JENA
PA OFFICE JENA, P O BOX 100537, 07705 JENA, GERMANY
SN 0065-1281
EI 1618-0372
J9 ACTA HISTOCHEM
JI Acta Histochem.
PY 2014
VL 116
IS 2
BP 335
EP 343
DI 10.1016/j.acthis.2013.08.011
PG 9
WC Cell Biology
SC Cell Biology
GA AD0EO
UT WOS:000332907500006
PM 24071520
ER
PT J
AU Blaser, K
Zlabinger, M
Hinterberger, T
AF Blaser, Klaus
Zlabinger, Milena
Hinterberger, Thilo
TI Interpersonal Attention Management Inventory: A New Instrument to
Capture Different Self- and External Perception Skills
SO FORSCHENDE KOMPLEMENTARMEDIZIN
LA German
DT Article
DE Self-Boundary; Theory of mind; Self-perception; External perception;
Attention
ID FUNCTIONING AUTISM; MINDFULNESS; EMPATHY; MEDITATION; QUOTIENT; EMOTION
AB Background: The Interpersonal Attention Management Inventory (IAMI) represents a new instrument to capture self-and external perception skills. The underlying theoretical model assumes 3 mental locations of attention (the intrapersonal space, the extrapersonal space, and the external intrapersonal space) of the other. Methods: The IAMI was studied regarding its factor structure; it was shortened and statistical values as well as first reference values were calculated based on a larger sample (n = 1089). Results: By factor analysis, the superordinate scales could be widely validated. The shortened version with 31 items and 3 superordinate scales shows a high reliability of the global value (Cronbach's alpha = 0.81) and, regarding the convergent validity, a modest correlation (r = 0.41) of the global value and mindfulness, measured with the Freiburg Mindfulness Inventory (FMI). Conclusions: Further validation studies are invited so that the IAMI can be used as an instrument for (course) diagnosis in the therapy of psychiatric disorders as well as for research in social neuroscience, e. g., in investigations on mindfulness, compassion, empathy, theory of mind, and self-boundaries.
C1 [Blaser, Klaus] Ctr Appl Boundary Studies, Basel, Switzerland.
[Zlabinger, Milena] Univ Tubingen, Psycholog Inst, Tubingen, Germany.
[Hinterberger, Thilo] Univ Klinikum Regensburg, Abt Psychosomat Med, Forschungsbereich Angew Bewusstseinswissensch, D-93047 Regensburg, Germany.
RP Blaser, K (reprint author), Univ Klinikum Regensburg, Abt Psychosomat Med, Forschungsbereich Angew Bewusstseinswissensch, Albertstr 2, D-93047 Regensburg, Germany.
EM Thilo.Hinterberger@klinik.uni-regensburg.de
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NR 27
TC 0
Z9 0
PU KARGER
PI BASEL
PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
SN 1021-7096
EI 1421-9999
J9 FORSCH KOMPLEMENTMED
JI Forsch. Komplement.med.
PY 2014
VL 21
IS 1
BP 33
EP 40
DI 10.1159/000358176
PG 8
WC Integrative & Complementary Medicine
SC Integrative & Complementary Medicine
GA AD0CK
UT WOS:000332901300006
PM 24603628
ER
PT J
AU Escobedo, L
Tentori, M
Quintana, E
Favela, J
Garcia-Rosas, D
AF Escobedo, Lizbeth
Tentori, Monica
Quintana, Eduardo
Favela, Jesus
Garcia-Rosas, Daniel
TI Using Augmented Reality to Help Children with Autism Stay Focused
SO IEEE PERVASIVE COMPUTING
LA English
DT Article
DE Autism; Medical treatment; Object recognition; Glass; Feature
extraction; Augmented reality; Servers; pervasive computing; augmented
reality; attention management; autism; pervasive interaction
C1 [Escobedo, Lizbeth] Univ Autonoma Baja California, Mexicali 21100, Baja California, Mexico.
RP Escobedo, L (reprint author), Univ Autonoma Baja California, Mexicali 21100, Baja California, Mexico.
EM lizbeth.escobedo@gmail.com; mtentori@cicese.mx; equintan@cicese.edu.mx;
favela@cicese.mx; jdgarcia@cicese.edu.mx
RI Favela, Jesus/J-8027-2013; Quintana, Eduardo/F-4578-2014
OI Favela, Jesus/0000-0003-2967-9654; Quintana, Eduardo/0000-0001-5718-4937
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Johnson B., 2012, ED RES QUANTITATIVE
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NR 15
TC 4
Z9 4
PU IEEE COMPUTER SOC
PI LOS ALAMITOS
PA 10662 LOS VAQUEROS CIRCLE, PO BOX 3014, LOS ALAMITOS, CA 90720-1314 USA
SN 1536-1268
EI 1558-2590
J9 IEEE PERVAS COMPUT
JI IEEE Pervasive Comput.
PD JAN-MAR
PY 2014
VL 13
IS 1
BP 38
EP 46
DI 10.1109/MPRV.2014.19
PG 9
WC Computer Science, Information Systems; Engineering, Electrical &
Electronic; Telecommunications
SC Computer Science; Engineering; Telecommunications
GA AC7UO
UT WOS:000332737800008
ER
PT J
AU Ozturk, P
Tidemann, A
AF Ozturk, Pinar
Tidemann, Axel
TI A review of case-based reasoning in cognition-action continuum: a step
toward bridging symbolic and non-symbolic artificial intelligence
SO KNOWLEDGE ENGINEERING REVIEW
LA English
DT Review
ID ADAPTATION-GUIDED RETRIEVAL; AUTISM SPECTRUM DISORDERS; MIRROR NEURON
DYSFUNCTION; MOTOR CONTROL; INTERNAL-MODELS; PREMOTOR CORTEX; IMITATION;
REPRESENTATION; SELECTION; RECOGNITION
AB In theories and models of computational intelligence, cognition and action have historically been investigated on separate grounds. We conjecture that the main mechanism of case-based reasoning (CBR) applies to cognitive tasks at various levels and of various granularity, and hence can represent a bridgeor a continuumbetween the higher and lower levels of cognition. CBR is an artificial intelligence (AI) method that draws upon the idea of solving a new problem reusing similar past experiences. In this paper, we re-formulate the notion of CBR to highlight the commonalities between higher-level cognitive tasks such as diagnosis, and lower-level control such as voluntary movements of an arm. In this view, CBR is envisaged as a generic process independent from the content and the detailed format of cases. Diagnostic cases and internal representations underlying motor control constitute two instantiations of the case representation. In order to claim such a generic mechanism, the account of CBR needs to be revised so that its position in non-symbolic AI becomes clearer. The paper reviews the CBR literature that targets lower levels of cognition to show how CBR may be considered as a step toward bridging the gap between symbolic and non-symbolic AI.
C1 [Ozturk, Pinar; Tidemann, Axel] Norwegian Univ Sci & Technol NTNU, Dept Comp & Informat Sci, NO-7491 Trondheim, Norway.
RP Ozturk, P (reprint author), Norwegian Univ Sci & Technol NTNU, Dept Comp & Informat Sci, Sem Saelandsvei 7-9, NO-7491 Trondheim, Norway.
EM pinar@idi.ntnu.no; axel.tidemann@gmail.com
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NR 91
TC 0
Z9 0
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0269-8889
EI 1469-8005
J9 KNOWL ENG REV
JI Knowl. Eng. Rev.
PD JAN
PY 2014
VL 29
IS 1
BP 51
EP 77
DI 10.1017/S0269888913000076
PG 27
WC Computer Science, Artificial Intelligence
SC Computer Science
GA AC1YW
UT WOS:000332295000003
ER
PT J
AU Gvozdjakova, A
Kucharska, J
Ostatnikova, D
Babinska, K
Nakladal, D
Crane, FL
AF Gvozdjakova, Anna
Kucharska, Jarmila
Ostatnikova, Daniela
Babinska, Katarina
Nakladal, Dalibor
Crane, Fred L.
TI Ubiquinol Improves Symptoms in Children with Autism
SO OXIDATIVE MEDICINE AND CELLULAR LONGEVITY
LA English
DT Article
ID OXIDATIVE STRESS; MITOCHONDRIAL DYSFUNCTION; ANTIOXIDANT ENZYMES;
SPECTRUM DISORDERS; LIPID-PEROXIDATION; COENZYME Q(10); PLASMA;
BIOMARKERS
AB Background. Autism is a spectrum of neurodevelopmental disorders with manifestation within 3 years after birth. Manifestations of autism include behavior problems (hyperactivity, toys destruction, self-harm, and agression) and sleep and eating disorders. Etiology of autism is poorly understood. Oxidative stress and antioxidants can participate in pathobiochemical mechanisms of autism. Methods. Twenty-four children, aged 3-6 years, with autism according to the DSM IV criteria and using CARS were included in the study. Concentrations of CoQ(10-TOTAL), gamma- and alpha-tocopherol, beta-carotene, and lipid peroxidation were determined in plasma before and after three months of supportive therapy with ubiquinol at a daily dose 2 x 50 mg. Data on behavior of the children were collected from parents at the same time. Results. Ubiquinol supportive therapy improved symptoms in children with autism, as communication with parents (in 12%), verbal communication (in 21%), playing games of children (in 42%), sleeping (in 34%), and food rejection (in 17%), with CoQ(10-TOTAL) plasma level above 2.5 mu mol/L. Conclusions. Beneficial effect of ubiquinol in children with autism has been demonstrated for the first time. We assume that plasma concentration of CoQ(10-TOTAL) and lipid peroxidation could be used as relevant biomarkers of ubiquinol supportive therapy.
C1 [Gvozdjakova, Anna; Kucharska, Jarmila; Nakladal, Dalibor] Comenius Univ, Fac Med, Dept Med 3, Pharmacobiochem Lab, Bratislava 81108, Slovakia.
[Ostatnikova, Daniela; Babinska, Katarina] Comenius Univ, Fac Med, Inst Physiol, Bratislava 81108, Slovakia.
[Crane, Fred L.] Purdue Univ, Dept Biol Sci, W Lafayette, IN 47901 USA.
RP Gvozdjakova, A (reprint author), Comenius Univ, Fac Med, Dept Med 3, Pharmacobiochem Lab, Sasinkova 4, Bratislava 81108, Slovakia.
EM anna.gvozdjakova@fmed.uniba.sk
FU Ministry of Education of Slovakia, VEGA [1/0328/10, 1/0614/12]; APVV
[0254-11]; Tishcon Corp., USA for Li-QH product
FX This work is supported by the Grant of Ministry of Education of
Slovakia, VEGA 1/0328/10, 1/0614/12; APVV 0254-11; Tishcon Corp., USA
for Li-QH product; A. Stetkova for technical assistance; Autistic Center
ANDREAS, n.p., Bratislava, Slovakia for cooperation. Work was done in
Comenius University in Bratislava, Medical Faculty, Pharmacobiochemical
Laboratory of 3rd Medical Department, Slovakia, in the years 2011-2012.
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NR 27
TC 2
Z9 2
PU HINDAWI PUBLISHING CORPORATION
PI NEW YORK
PA 410 PARK AVENUE, 15TH FLOOR, #287 PMB, NEW YORK, NY 10022 USA
SN 1942-0900
EI 1942-0994
J9 OXID MED CELL LONGEV
JI Oxidative Med. Cell. Longev.
PY 2014
AR 798957
DI 10.1155/2014/798957
PG 6
WC Cell Biology
SC Cell Biology
GA AC5EK
UT WOS:000332543600001
ER
PT J
AU Lemke, JR
Hendrickx, R
Geider, K
Laube, B
Schwake, M
Harvey, RJ
James, VM
Pepler, A
Steiner, I
Hortnagel, K
Neidhardt, J
Ruf, S
Wolff, M
Bartholdi, D
Caraballo, R
Platzer, K
Suls, A
De Jonghe, P
Biskup, S
Weckhuysen, S
AF Lemke, Johannes R.
Hendrickx, Rik
Geider, Kirsten
Laube, Bodo
Schwake, Michael
Harvey, Robert J.
James, Victoria M.
Pepler, Alex
Steiner, Isabelle
Hoertnagel, Konstanze
Neidhardt, John
Ruf, Susanne
Wolff, Markus
Bartholdi, Deborah
Caraballo, Roberto
Platzer, Konrad
Suls, Arvid
De Jonghe, Peter
Biskup, Saskia
Weckhuysen, Sarah
TI GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal
Epilepsy
SO ANNALS OF NEUROLOGY
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; DE-NOVO MUTATIONS; INFANTILE SPASMS; NMDA
RECEPTORS; GENE; SUBUNIT; ENCEPHALOPATHIES; PHENOTYPES; DIVERSITY;
APHASIA
AB Objective: To identify novel epilepsy genes using a panel approach and describe the functional consequences of mutations.
Methods: Using a panel approach, we screened 357 patients comprising a vast spectrum of epileptic disorders for defects in genes known to contribute to epilepsy and/or intellectual disability (ID). After detection of mutations in a novel epilepsy gene, we investigated functional effects in Xenopus laevis oocytes and screened a follow-up cohort.
Results: We revealed de novo mutations in GRIN2B encoding the NR2B subunit of the N-methyl-D-aspartate (NMDA) receptor in 2 individuals with West syndrome and severe developmental delay as well as 1 individual with ID and focal epilepsy. The patient with ID and focal epilepsy had a missense mutation in the extracellular glutamate-binding domain (p.Arg540His), whereas both West syndrome patients carried missense mutations within the NR2B ion channel-forming re-entrant loop (p.Asn615Ile, p.Val618Gly). Subsequent screening of 47 patients with unexplained infantile spasms did not reveal additional de novo mutations, but detected a carrier of a novel inherited GRIN2B splice site variant in close proximity (c.2011-5_2011-4delTC). Mutations p.Asn615Ile and p.Val618Gly cause a significantly reduced Mg2+ block and higher Ca2+ permeability, leading to a dramatically increased Ca2+ influx, whereas p.Arg540His caused less severe disturbance of channel function, corresponding to the milder patient phenotype.
Interpretation: We identified GRIN2B gain-of-function mutations as a cause of West syndrome with severe developmental delay as well as of ID with childhood onset focal epilepsy. Severely disturbed channel function corresponded to severe clinical phenotypes, underlining the important role of facilitated NMDA receptor signaling in epileptogenesis.
C1 [Lemke, Johannes R.] Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, Switzerland.
[Lemke, Johannes R.; Suls, Arvid; De Jonghe, Peter; Weckhuysen, Sarah] RES Consortium, Partners EuroEPIN, Andover, Hants, England.
[Hendrickx, Rik; Suls, Arvid; De Jonghe, Peter; Weckhuysen, Sarah] Vlaams Inst Biotechnol, Neurogenet Grp, Dept Mol Genet, Antwerp, Belgium.
[Hendrickx, Rik; De Jonghe, Peter; Weckhuysen, Sarah] Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium.
[Geider, Kirsten; Laube, Bodo] Tech Univ Darmstadt, Dept Neurophysiol & Neurosensory Syst, Darmstadt, Germany.
[Schwake, Michael] Univ Bielefeld, Fac Chem, Bielefeld, Germany.
[Harvey, Robert J.; James, Victoria M.; Pepler, Alex] UCL, Sch Pharm, Dept Pharmacol, London, England.
[Pepler, Alex; Steiner, Isabelle; Hoertnagel, Konstanze; Biskup, Saskia] CeGaT GmbH, Tubingen, Germany.
[Neidhardt, John] Univ Zurich, Inst Med Mol Genet, CH-8006 Zurich, Switzerland.
[Ruf, Susanne; Wolff, Markus] Univ Tubingen, Dept Neuropediat, Tubingen, Germany.
[Bartholdi, Deborah; Biskup, Saskia] Klin Stuttgart, Inst Clin Genet, Stuttgart, Germany.
[Caraballo, Roberto] Juan P Garrahan Pediat Hosp, Dept Neurol, Buenos Aires, DF, Argentina.
[Platzer, Konrad] Univ Lubeck, Dept Human Genet, Lubeck, Germany.
[De Jonghe, Peter] Univ Antwerp Hosp, Dept Neurol, Antwerp, Belgium.
[Biskup, Saskia] Univ Tubingen, Hertie Inst Clin Brain Res, Tubingen, Germany.
[Biskup, Saskia] Univ Tubingen, German Ctr Neurodegenerat Dis, Tubingen, Germany.
RP Lemke, JR (reprint author), Univ Bern, Inselspital, Univ Childrens Hosp, CH-3010 Bern, Switzerland.
EM johannes.lemke@insel.ch
FU EuroEPINOMICS-RES network [32EP30_136042 / 1]; EuroEPINOMICS-RES network
(FWO/ESF-ECRP) [G.A.136.11.N]; Medical Research Council [MR/J004049/1];
Federal Ministry for Education and Research [IonNeurONet: 01GM1105A];
German Research Foundation [SFB877]; Fonds Wetenschappelijk Onderzoek
FX J.R.L. (32EP30_136042 / 1) and P. D. J. (G.A.136.11.N, FWO/ESF-ECRP)
received financial support within the EuroEPINOMICS-RES network
(www.euroepinomics.org) within the Eurocores framework of the European
Science Foundation. R. J. H. received funding from the Medical Research
Council (MR/J004049/1). S. B. received further support from the Federal
Ministry for Education and Research (IonNeurONet: 01GM1105A). M. S.
received financial support from the German Research Foundation (SFB877).
A. S. received funding for a postdoctoral fellowship by the Fonds
Wetenschappelijk Onderzoek. We thank all patients and family members for
their participation in this study.
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NR 30
TC 9
Z9 9
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0364-5134
EI 1531-8249
J9 ANN NEUROL
JI Ann. Neurol.
PD JAN
PY 2014
VL 75
IS 1
BP 147
EP 154
DI 10.1002/ana.24073
PG 8
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AA3WQ
UT WOS:000331026300016
PM 24272827
ER
PT J
AU Morgan, G
Meristo, M
Mann, W
Hjelmquist, E
Surian, L
Siegal, M
AF Morgan, Gary
Meristo, Marek
Mann, Wolfgang
Hjelmquist, Erland
Surian, Luca
Siegal, Michael
TI Mental state language and quality of conversational experience in deaf
and hearing children
SO COGNITIVE DEVELOPMENT
LA English
DT Article
DE Deaf; Social cognition; Conversation
ID SIGN-LANGUAGE; MIND; AUTISM; MOTHER; TALK; INPUT
AB Deaf children of hearing parents show a protracted delay in performance on 'theory of mind' measures that suggests they encounter difficulties in acquiring knowledge of false beliefs and other mental states. Considerable evidence indicates that children's early experience of adults' mental state talk predicts their later social-cognitive development. However, no previous study has analyzed very young deaf children's access to conversation about mental states. We compared the conversational turn-taking and input of hearing parents to deaf and hearing children aged 17-35 months in the UK and Sweden. Mothers of hearing children used far more cognitive mental state language with their infants and their conversations were characterized by more communicatively effective turn-taking than mothers of deaf children. Across two different cultures, these findings indicate that conversations differ significantly in these aspects of interaction thought to be crucial for later social-cognitive development. (c) 2013 Elsevier Inc. All rights reserved.
C1 [Morgan, Gary] City Univ London, London EC1V 0HB, England.
[Morgan, Gary; Mann, Wolfgang] DCAL Res Ctr, London, England.
[Meristo, Marek; Hjelmquist, Erland] Univ Gothenburg, Gothenburg, Sweden.
[Meristo, Marek; Surian, Luca] Univ Trento, Trento, Italy.
[Siegal, Michael] Univ Sheffield, Sheffield S10 2TN, S Yorkshire, England.
RP Morgan, G (reprint author), City Univ London, Dept Language & Commun Sci, Northampton Sq, London EC1V 0HB, England.
EM g.morgan@city.ac.uk; marek.meristo@gu.se
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NR 34
TC 3
Z9 3
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0885-2014
EI 1879-226X
J9 COGNITIVE DEV
JI Cogn. Dev.
PD JAN-MAR
PY 2014
VL 29
BP 41
EP 49
DI 10.1016/j.cogdev.2013.10.002
PG 9
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA AB8OW
UT WOS:000332050900004
ER
PT J
AU Wine, O
Hackett, C
Campbell, S
Cabrera-Rivera, O
Buka, I
Zaiane, O
DeVito, SC
Osornio-Vargas, A
AF Wine, Osnat
Hackett, Cian
Campbell, Sandy
Cabrera-Rivera, Orlando
Buka, Irena
Zaiane, Osmar
DeVito, Stephen C.
Osornio-Vargas, Alvaro
TI Using pollutant release and transfer register data in human health
research: a scoping review
SO ENVIRONMENTAL REVIEWS
LA English
DT Review
DE pollutant release and transfer registries; PRTR; human health;
industrial emissions; toxic chemical releases
ID ENVIRONMENTAL MERCURY RELEASE; HAZARDOUS AIR-POLLUTANTS; BREAST-CANCER
INCIDENCE; UNITED-STATES; PROCESSING INSTALLATIONS; INDUSTRIAL
FACILITIES; AUTISM PREVALENCE; HODGKINS-LYMPHOMA; METAL PRODUCTION;
MORTALITY-RATES
AB Pollutant release and transfer registers (PRTRs) collect and provide information on chemicals released to the environment or otherwise managed as waste. They support the public's right-to-know and provide useful information in gauging performance of facilities, sectors, and governments. The extent to which these data have been used in research, particularly in relation to human health, has not been documented. In this scoping review our objective was to learn from scholarly literature the extent and nature of the use of PRTR data in human health research. We performed literature searches (1994-2011) using various search engines and (or) key words. Articles selected for review were chosen following predefined criteria, to extract and analyze data. One hundred and eighty four papers were identified. Forty investigated possible relations with health outcomes: 33 of them identified positive associations. The rest explored other uses of PRTR data. Papers identified challenges, some imputable to the PRTR. We conclude that PRTR data are useful for research, including health-related studies, and have significant potential for prioritizing research needs that can influence policy, management, and ultimately human health. In spite of their inherent limitations, PRTRs represent a perfectible, unique useful source, whose application to human health research appears to be underutilized. Developing strategies to overcome these limitations could improve data quality and increase its utility in future environmental health research and policy applications.
C1 [Wine, Osnat; Hackett, Cian; Buka, Irena; Osornio-Vargas, Alvaro] Univ Alberta, Edmonton Clin Hlth Acad, Dept Paediat, Childrens Environm Hlth Clin ChEHC, Edmonton, AB T6G 1C9, Canada.
[Campbell, Sandy] Univ Alberta, Walter C Mackenzie Hlth Sci Ctr, John W Scott Hlth Sci Lib, Edmonton, AB T6G 2R7, Canada.
[Cabrera-Rivera, Orlando] Air Qual & Pollutant Releases Commiss Environm Co, Montreal, PQ H2Y 1N9, Canada.
[Zaiane, Osmar] Stollery Childrens & Misericordia Community Hosp, Mother Rosalie Hlth Serv Ctr, Child Hlth Clin, Edmonton, AB T5R 4H5, Canada.
[DeVito, Stephen C.] US Environm Protect Agcy, Toxics Release Inventory Program, Washington, DC 20004 USA.
RP Osornio-Vargas, A (reprint author), Univ Alberta, Edmonton Clin Hlth Acad, Dept Paediat, Childrens Environm Hlth Clin ChEHC, 11405 87 Ave NW, Edmonton, AB T6G 1C9, Canada.
EM osornio@ualberta.ca
FU Faculty of Medicine and Dentistry, University of Alberta, Canada -
Alberta Health Services; Faculty of Medicine and Dentistry, University
of Alberta, Canada; Interdisciplinary Health Research Academy (IHRA),
University of Alberta, Canada
FX This study was supported by an Emerging research team grant from the
Faculty of Medicine and Dentistry, University of Alberta, Canada -
Alberta Health Services. Cian Hackett was partially supported by a
summer student scholarship from the Faculty of Medicine and Dentistry,
University of Alberta, Canada. ChEHC activities were supported by the
Interdisciplinary Health Research Academy (IHRA), University of Alberta,
Canada.
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NR 71
TC 0
Z9 0
PU CANADIAN SCIENCE PUBLISHING, NRC RESEARCH PRESS
PI OTTAWA
PA 65 AURIGA DR, SUITE 203, OTTAWA, ON K2E 7W6, CANADA
SN 1208-6053
EI 1181-8700
J9 ENVIRON REV
JI Environ. Rev.
PY 2014
VL 22
IS 1
BP 51
EP 65
DI 10.1139/er-2013-0036
PG 15
WC Environmental Sciences
SC Environmental Sciences & Ecology
GA AB9GO
UT WOS:000332099300003
ER
PT J
AU Takarae, Y
Luna, B
Minshew, NJ
Sweeney, JA
AF Takarae, Yukari
Luna, Beatriz
Minshew, Nancy J.
Sweeney, John A.
TI Visual Motion Processing and Visual Sensorimotor Control in Autism
SO JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY
LA English
DT Article
ID CONCURRENT TMS-FMRI; SPECTRUM DISORDERS; EYE-MOVEMENTS; AREA MT;
BIOLOGICAL MOTION; SMOOTH-PURSUIT; PERCEPTION; CORTEX; INFORMATION;
CHILDREN
C1 [Takarae, Yukari; Sweeney, John A.] Univ Texas Southwestern, Dept Psychiat, Ctr Autism & Dev Disabil, Dallas, TX 75390 USA.
[Luna, Beatriz; Minshew, Nancy J.] Univ Pittsburgh, Dept Psychiat, Pittsburgh, PA USA.
[Luna, Beatriz] Univ Pittsburgh, Dept Psychol, Pittsburgh, PA 15260 USA.
[Minshew, Nancy J.] Univ Pittsburgh, Dept Neurol, Pittsburgh, PA 15260 USA.
[Sweeney, John A.] Univ Texas Southwestern, Dept Pediat, Dallas, TX 75390 USA.
RP Takarae, Y (reprint author), Univ Texas Southwestern, Dept Psychiat, Ctr Autism & Dev Disabil, 5323 Harry Hines Blvd MC9086, Dallas, TX 75390 USA.
EM yukari.takarae@southwestern.edu
FU NICHD Collaborative Program of Excellence in Autism [HD35469]; NICHD
Autism Center of Excellence [HD055751]; National Alliance for Autism
Research; NIH Mentored Research Scientist Development Award [MH087720];
Janssen
FX This research was supported by an NICHD Collaborative Program of
Excellence in Autism (HD35469) and an NICHD Autism Center of Excellence
(HD055751), the National Alliance for Autism Research, and an NIH
Mentored Research Scientist Development Award (MH087720). Dr. Sweeney
serves as a member of advisory boards to Takeda, Lilly, BMS, Roche and
Pfizer, and has received support from Janssen that is unrelated to the
work presented in this manuscript. The authors report no actual or
potential conflict of interest in relation to this manuscript.
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NR 65
TC 2
Z9 2
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 1355-6177
EI 1469-7661
J9 J INT NEUROPSYCH SOC
JI J. Int. Neuropsychol. Soc.
PD JAN
PY 2014
VL 20
IS 1
BP 113
EP 122
PG 10
WC Clinical Neurology; Neurosciences; Psychiatry; Psychology
SC Neurosciences & Neurology; Psychiatry; Psychology
GA AC2VC
UT WOS:000332373400013
PM 24365486
ER
PT J
AU Zeidan-Chulia, F
Salmina, AB
Malinovskaya, NA
Noda, M
Verkhratsky, A
Moreira, JCF
AF Zeidan-Chulia, Fares
Salmina, Alla B.
Malinovskaya, Natalia A.
Noda, Mami
Verkhratsky, Alexei
Fonseca Moreira, Jose Claudio
TI The glial perspective of autism spectrum disorders
SO NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
LA English
DT Review
DE Autism; Gene; Environmental factors; Neurone; Astrocyte;
Oligodendrocyte; NG2 cells; Microglia
ID CENTRAL-NERVOUS-SYSTEM; AMYOTROPHIC-LATERAL-SCLEROSIS; GLYCOGEN-SYNTHASE
KINASE-3-BETA; DORSOLATERAL PREFRONTAL CORTEX; OXIDATIVE STRESS;
MICROGLIAL ACTIVATION; OXYTOCIN RECEPTOR; VALPROIC ACID; RETT-SYNDROME;
CELL-DEATH
AB The aetiology of autism spectrum disorders remains unclear although a growing number of associated genetic abnormalities and environmental factors have been discovered in recent decades. These advancements coincided with a remarkable increase in the comprehension of physiological functions and pathological potential of neuroglia in the central nervous system that led to a notion of fundamental contribution of glial cells into multiple neuropathologies, including neuropsychiatric and developmental disorders. Growing evidence indicates a role for deregulation of astroglial control over homeostasis and plastic potential of neural networks as well as microglial malfunction and neuroinflammatory response in the brains of autistic patients. In this review, we shall summarize the status and pathological potential of neuroglia and argue for neuroglial roots of autistic disorders. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Zeidan-Chulia, Fares; Fonseca Moreira, Jose Claudio] Univ Fed Rio Grande do Sul, Ctr Estudos Estresse Oxidat, Dept Bioquim, Inst Ciencias Bas Saude ICBS, Porto Alegre, RS, Brazil.
[Salmina, Alla B.; Malinovskaya, Natalia A.] Krasnoyarsk State Med Univ, Dept Biochem Med Pharmaceut & Toxicol Chem, Krasnoyarsk, Russia.
[Noda, Mami] Kyushu Univ, Lab Pathophysiol, Grad Sch Pharmaceut Sci, Fukuoka 812, Japan.
[Verkhratsky, Alexei] Univ Manchester, Fac Life Sci, Manchester, Lancs, England.
[Verkhratsky, Alexei] Basque Fdn Sci, IKERBASQUE, Bilbao, Spain.
[Verkhratsky, Alexei] Univ Basque Country UPV EHU, Dept Neurosci, Leioa, Spain.
RP Zeidan-Chulia, F (reprint author), Univ Fed Rio Grande do Sul, Dept Bioquim, ICBS, Rua Ramiro Barcelos 2600-ANEXO, BR-90035003 Porto Alegre, RS, Brazil.
EM fzchulia.biomed@gmail.com
RI Verkhratsky, Alexei/J-4527-2013; Zeidan Chulia, Fares/E-5605-2015
OI Verkhratsky, Alexei/0000-0003-2592-9898;
FU Brazilian research funding agencies FAPERGS [PqG 1008860, PqG 1008857,
ARD11/1893-7, PRONEX 1000274]; CAPES [PROCAD 066/2007]; CNPq
[558289/2008-8, 302330/2009-7]; PROPESQ-UFRGS
FX First of all, our sincere apologies to the authors whose work have not
been cited in the present review article due to space considerations. We
are grateful to the Brazilian research funding agencies FAPERGS (PqG
1008860, PqG 1008857, ARD11/1893-7, PRONEX 1000274), CAPES (PROCAD
066/2007), CNPq (558289/2008-8 and 302330/2009-7), as well as
PROPESQ-UFRGS for supporting this work.
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PY 2014
VL 38
BP 160
EP 172
DI 10.1016/j.neubiorev.2013.11.008
PG 13
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AB4QM
UT WOS:000331775000009
PM 24300694
ER
PT J
AU Moss, BG
Chugani, DC
AF Moss, Brian G.
Chugani, Diane C.
TI Increased Risk of Very Low Birth Weight, Rapid Postnatal Growth, and
Autism in Underweight and Obese Mothers
SO AMERICAN JOURNAL OF HEALTH PROMOTION
LA English
DT Article
DE Autism; Obesity; Postnatal Growth; Prevention Research
ID HIGH-FAT DIET; SPECTRUM DISORDERS; PREGNANCY OUTCOMES; MATERNAL OBESITY;
FETAL-BRAIN; CELL-GROWTH; PREVALENCE; INFLAMMATION; TRENDS; US
AB Purpose. To determine whether prepregnancy weight was associated with children's birth weight, early physical growth, and autism diagnosis.
Design. Early Childhood Longitudinal Study-Birth Cohort data.
Setting. United States.
Subjects. Representative sample of U. S. children followed from birth through kindergarten (n = 4800). Also, a subpopulation of the very low birth weight children was examined (n = 500).
Measures. Maternal variables included age and prepregnancy body mass index. Changes in children's height, weight, and head circumference between 9 months and 2 years were used as growth metrics. Children's sex, age, birth weight, and reported autism were also considered.
Analysis. Logistic and multinomial logistic models assessed the impact of prepregnancy weight on birth weight and children's subsequent rate of physical growth and autism.
Results. Children born to underweight or obese mothers had increased odds of very low birth weight. Very low birth weight was related to rapid height and weight growth and more than twice the likelihood to subsequently be diagnosed with autism. For the subgroup of very low birth weight children, rapid head growth was related to a fivefold increase in the odds of autism. After accounting for the impact birth weight and growth rates, we found prepregnancy weight indirectly impacted autism risk.
Conclusion. Being underweight or obese during prepregnancy indirectly increased risk for autism from increased odds of low birth weight and accelerated postnatal growth.
C1 [Moss, Brian G.; Chugani, Diane C.] Wayne State Univ, Detroit, MI 48202 USA.
[Chugani, Diane C.] Childrens Hosp Michigan, Detroit, MI 48201 USA.
RP Moss, BG (reprint author), Wayne State Univ, 2250 Fac Adm Bldg, Detroit, MI 48202 USA.
EM brian.moss@wayne.edu
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NR 41
TC 2
Z9 2
PU AMER JOURNAL HEALTH PROMOTION INC
PI TROY
PA PO BOX 1254, TROY, MI 48099-1254 USA
SN 0890-1171
EI 2168-6602
J9 AM J HEALTH PROMOT
JI Am. J. Health Promot.
PD JAN-FEB
PY 2014
VL 28
IS 3
BP 181
EP 188
DI 10.4278/ajhp.120705-QUAN-325
PG 8
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AB6JS
UT WOS:000331894900015
PM 23875984
ER
PT J
AU Bate, S
Cook, SJ
Duchaine, B
Tree, JJ
Burns, EJ
Hodgson, TL
AF Bate, Sarah
Cook, Sarah J.
Duchaine, Bradley
Tree, Jeremy J.
Burns, Edwin J.
Hodgson, Timothy L.
TI Intranasal inhalation of oxytocin improves face processing in
developmental prosopagnosia
SO CORTEX
LA English
DT Article
DE Oxytocin; Developmental prosopagnosia; Face processing; Face recognition
ID HIGH-FUNCTIONING AUTISM; HUMAN NEURAL SYSTEM; CONGENITAL PROSOPAGNOSIA;
HEREDITARY PROSOPAGNOSIA; MEMORY TEST; RECOGNITION ABILITY; UNFAMILIAR
FACES; TEMPORAL CORTEX; PERCEPTION; AMYGDALA
AB Developmental prosopagnosia (DP) is characterised by a severe lifelong impairment in face recognition. In recent years it has become clear that DP affects a substantial number of people, yet little work has attempted to improve face processing in these individuals. Intriguingly, recent evidence suggests that intranasal inhalation of the hormone oxytocin can improve face processing in unimpaired participants, and we investigated whether similar findings might be noted in DP. Ten adults with DP and 10 matched controls were tested using a randomized placebo-controlled double-blind within-subject experimental design (AB-BA). Each participant took part in two testing sessions separated by a 14-25 day interval. In each session, participants inhaled 24 IU of oxytocin or placebo spray, followed by a 45 min resting period to allow central oxytocin levels to plateau. Participants then completed two face processing tests: one assessing memory for a set of newly encoded faces, and one measuring the ability to match simultaneously presented faces according to identity. Participants completed the Multidimensional Mood Questionnaire (MMQ) at three points in each testing session to assess the possible mood-altering effects of oxytocin and to control for attention and wakefulness. Statistical comparisons revealed an improvement for DP but not control participants on both tests in the oxytocin condition, and analysis of scores on the MMQ indicated that the effect cannot be attributed to changes in mood, attention or wakefulness. This investigation provides the first evidence that oxytocin can improve face processing in DP, and the potential neural underpinnings of the findings are discussed alongside their implications for the treatment of face processing disorders. (C) 2013 The Authors. Published by Elsevier Ltd. All rights reserved.
C1 [Bate, Sarah] Bournemouth Univ, Psychol Res Ctr, Poole BH12 5BB, Dorset, England.
[Cook, Sarah J.] Dorset Healthcare Univ Fdn Trust, Bournemouth, Dorset, England.
[Duchaine, Bradley] Dartmouth Coll, Dept Psychol & Brain Sci, Hanover, NH 03755 USA.
[Tree, Jeremy J.; Burns, Edwin J.] Swansea Univ, Dept Psychol, Swansea, W Glam, Wales.
[Hodgson, Timothy L.] Lincoln Univ, Sch Psychol, Lincoln, England.
RP Bate, S (reprint author), Bournemouth Univ, Psychol Res Ctr, Poole House, Poole BH12 5BB, Dorset, England.
EM sbate@bournemouth.ac.uk
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NR 61
TC 3
Z9 3
PU ELSEVIER MASSON
PI MILANO
PA VIA PALEOCAPA 7, 20121 MILANO, ITALY
SN 0010-9452
EI 1973-8102
J9 CORTEX
JI Cortex
PD JAN
PY 2014
VL 50
BP 55
EP 63
DI 10.1016/j.cortex.2013.08.006
PG 9
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AB3AL
UT WOS:000331663600006
PM 24074457
ER
PT J
AU Peters, U
AF Peters, Uwe
TI Self-Knowledge and Consciousness of Attitudes
SO JOURNAL OF CONSCIOUSNESS STUDIES
LA English
DT Article
ID TRANSITIVE INFERENCE; BELIEFS; AUTISM; MIND
AB Suppose we know our own attitudes, e.g. judgments and decisions, only by unconsciously interpreting ourselves. Would this undermine the assumption that there are conscious attitudes? Carruthers (2011) has argued that if the mentioned view of self-knowledge is combined with either of the two most common approaches to consciousness, i.e. the higher-order state account (Rosenthal, 1997; 2005; Lycan, 1996; Carruthers, 2000) or the global workspace theory (Baars, 1988; Dehaene and Naccache, 2001), then the conjunction of these theories implies that there are no conscious attitudes. I shall show that Carruthers' argument against the existence of conscious attitudes doesn't succeed, and mention studies on autism and logical reasoning under cognitive load that suggest that there are conscious attitudes.
EM uwe.peters@kcl.ac.uk
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NR 52
TC 0
Z9 0
PU IMPRINT ACADEMIC
PI THORVERTON
PA PO BOX 1, THORVERTON EX5 5YX, ENGLAND
SN 1355-8250
J9 J CONSCIOUSNESS STUD
JI J. Conscious. Stud.
PD JAN-FEB
PY 2014
VL 21
IS 1-2
BP 139
EP 155
PG 17
WC Philosophy; Social Sciences, Interdisciplinary
SC Philosophy; Social Sciences - Other Topics
GA AB1ZC
UT WOS:000331591800008
ER
PT J
AU Arnold, RW
Armitage, MD
AF Arnold, Robert W.
Armitage, M. Diane
TI Performance of Four New Photoscreeners on Pediatric Patients With High
Risk Amblyopia
SO JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS
LA English
DT Article
ID MTI PHOTOSCREENERS; ANISOMETROPIA; CALIBRATION; CHILDREN
AB Purpose: A new study by the American Academy of Pediatrics touts the benefits of photoscreening, especially in preverbal children who cannot yet perform monocular acuity screening. Emerging devices have not been compared in young and developmentally challenged children.
Methods: Consecutive patients in a pediatric eye practice had a comprehensive eye examination and four photoscreens: PlusoptiX (PlusoptiX, Nuremburg, Germany), SPOT (PediaVision, Lake Mary, FL), iScreen (iScreen, Memphis, TN), and the GoCheckKids application (Gobiquity, Aliso Viejo, CA) for the iPhone 4s (Apple, Cupertino, CA) with Delta Center Crescent interpretation. They were validated according to the 2003 American Association for Pediatric Ophthalmology and Strabismus uniform guidelines.
Results: One hundred eight children aged 1 to 12 years participated, with 56% having amblyopia risk factors and 10% having autism. For the four devices, sensitivity, specificity, and inconclusive results were as follows: PlusoptiX (83%, 86%, 23%), SPOT (80%, 85%, 4%), iScreen (75%, 88%, 13%) and iScreen (with Delta Center Crescent) (92%, 88%, 0%), and GoCheckKids (with Delta Center Crescent) (81%, 91%, 3%).
Conclusions: Even in high risk and young children, current instrument- based screeners can reliably screen for refractive and strabismic risk factors that lead to amblyopia. Some devices can reduce the proportion of inclusive results in challenging cases.
C1 Alaska Blind Child Discovery, Pediat Ophthalmol & Strabismus, Anchorage, AK USA.
[Arnold, Robert W.] Ophthalm Associates, Anchorage, AK 99501 USA.
RP Arnold, RW (reprint author), Ophthalm Associates, 542 West Second Ave, Anchorage, AK 99501 USA.
EM eyedoc@alaska.net
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Committee on Practice and Ambulatory Medicine Section on Ophthalmology; American Association of Certified Orthoptists; American Association for Pediatric Ophthalmology and Strabismus; American Academy of Ophthalmology, 2003, OPHTHALMOLOGY, V110, P860
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Wong AMF, 2012, CAN J OPHTHALMOL, V47, P399, DOI 10.1016/j.jcjo.2012.05.002
NR 17
TC 2
Z9 2
PU SLACK INC
PI THOROFARE
PA 6900 GROVE RD, THOROFARE, NJ 08086 USA
SN 0191-3913
EI 1938-2405
J9 J PEDIAT OPHTH STRAB
JI J. Pediatr. Ophthalmol. Strabismus.
PD JAN-FEB
PY 2014
VL 51
IS 1
BP 46
EP 52
DI 10.3928/01913913-20131223-02
PG 7
WC Ophthalmology; Pediatrics
SC Ophthalmology; Pediatrics
GA AB6CV
UT WOS:000331876100009
PM 24369683
ER
PT J
AU [Anonymous]
AF [Anonymous]
TI Theatre Intervention Offers Promise for Youth with Autism
SO JOURNAL OF PSYCHOSOCIAL NURSING AND MENTAL HEALTH SERVICES
LA English
DT News Item
CR [Anonymous], 2013, THEATRE OFFERS PROMI
NR 1
TC 0
Z9 0
PU SLACK INC
PI THOROFARE
PA 6900 GROVE RD, THOROFARE, NJ 08086 USA
SN 0279-3695
EI 1938-2413
J9 J PSYCHOSOC NURS MEN
JI J. Psychosoc. Nurs. Ment. Health Serv.
PD JAN
PY 2014
VL 52
IS 1
BP 9
EP 10
PG 2
WC Nursing
SC Nursing
GA AB5ZQ
UT WOS:000331867600006
ER
PT J
AU Travers, BG
Bigler, ED
Tromp, DPM
Adluru, N
Froehlich, AL
Ennis, C
Lange, N
Nielsen, JA
Prigge, MBD
Alexander, AL
Lainhart, JE
AF Travers, Brittany G.
Bigler, Erin D.
Tromp, Do P. M.
Adluru, Nagesh
Froehlich, Alyson L.
Ennis, Chad
Lange, Nicholas
Nielsen, Jared A.
Prigge, Molly B. D.
Alexander, Andrew L.
Lainhart, Janet E.
TI Longitudinal processing speed impairments in males with autism and the
effects of white matter microstructure
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Autism; Processing speed; Diffusion tensor imaging; White matter;
Executive function
ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; WISC-IV; AGE; CHILDREN;
ADULTS; COGNITION; ACCOUNT; ADOLESCENCE; PREDICTORS
AB The present study used an accelerated longitudinal design to examine group differences and age-related changes in processing speed in 81 individuals with autism spectrum disorder (ASD) compared to 56 age-matched individuals with typical development (ages 6-39 years). Processing speed was assessed using the Wechsler Intelligence Scale for Children-3rd edition (WISC-III) and the Wechsler Adult Intelligence Scale-3rd edition (WAIS-III). Follow-up analyses examined processing speed subtest performance and relations between processing speed and white matter microstructure (as measured with diffusion tensor imaging [DTI] in a subset of these participants). After controlling for full scale IQ the present results show that processing speed index standard scores were on average 12 points lower in the group with ASD compared to the group with typical development. There were, however, no significant group differences in standard score age-related changes within this age range. For subtest raw scores, the group with ASD demonstrated robustly slower processing speeds in the adult versions of the IQ test (i.e., WAIS-III) but not in the child versions (WISC-III), even though age-related changes were similar in both the ASD and typically developing groups. This pattern of results may reflect difficulties that become increasingly evident in ASD on more complex measures of processing speed. Finally, DTI measures of whole-brain white matter microstructure suggested that fractional anisotropy (but not mean diffusivity, radial diffusivity, or axial diffusivity) made significant but small-sized contributions to processing speed standard scores across our entire sample. Taken together, the present findings suggest that robust decreases in processing speed may be present in ASD, more pronounced in adulthood, and partially attributable to white matter microstructural integrity. Published by Elsevier Ltd.
C1 [Travers, Brittany G.; Tromp, Do P. M.; Adluru, Nagesh; Ennis, Chad; Alexander, Andrew L.; Lainhart, Janet E.] Univ Wisconsin, Waisman Lab Brain Imaging & Behav, Madison, WI 53705 USA.
[Bigler, Erin D.] Brigham Young Univ, Dept Psychol, Provo, UT 84602 USA.
[Bigler, Erin D.] Brigham Young Univ, Ctr Neurosci, Provo, UT 84602 USA.
[Bigler, Erin D.] Univ Utah, Brain Inst Utah, Salt Lake City, UT 84112 USA.
[Bigler, Erin D.] Univ Utah, Dept Psychiat, Salt Lake City, UT 84108 USA.
[Froehlich, Alyson L.; Prigge, Molly B. D.] Univ Utah, Dept Radiol, Salt Lake City, UT 84132 USA.
[Lange, Nicholas] Harvard Univ, Dept Psychiat, Boston, MA 02115 USA.
[Lange, Nicholas] Harvard Univ, Dept Biostat, Boston, MA 02115 USA.
[Lange, Nicholas] McLean Hosp, Neurostat Lab, Belmont, MA 02478 USA.
[Nielsen, Jared A.] Univ Utah, Interdept Program Neurosci, Salt Lake City, UT 84132 USA.
[Alexander, Andrew L.] Univ Wisconsin, Dept Psychiat, Madison, WI 53719 USA.
[Alexander, Andrew L.] Univ Wisconsin, Dept Med Phys, Madison, WI 53705 USA.
RP Travers, BG (reprint author), Univ Wisconsin, Waisman Lab Brain Imaging & Behav, 1500 Highland Ave, Madison, WI 53705 USA.
EM btravers@wisc.edu
FU National Institute of Mental Health [RO1 MH080826, RO1 MH084795]; Eunice
Kennedy Shriver National Institute of Child Health and Human Development
[T32 HD07489, P30 HD003352]; Hartwell Foundation; Poelman Foundation
FX This work was supported by the National Institute of Mental Health [RO1
MH080826 to JEL, ALA, NL, EDB; and RO1 MH084795 to JEL, NL], the Eunice
Kennedy Shriver National Institute of Child Health and Human Development
[T32 HD07489 to BGT, and P30 HD003352 to the Waisman Center], the
Hartwell Foundation [to BGT], and the Poelman Foundation [to EDB]. The
content is solely the responsibility of the authors and does not
necessarily represent the official views of the National Institute of
Mental Health, the National Institute of Child Health & Development, or
the National Institutes of Health. We thank Zhan Xu, Anne M. Bartosic,
Annahir Cariello, Celeste Knoles, Sam Doran, Dan Destiche, Steven Hesse,
and Daniel Witt for their contributions to this project. We acknowledge
other members of the UARP who were involved in the early stages of IQ
data collection. We sincerely thank the children, adolescents, and
adults with Autism, the individuals with typical development, and all
the families who participated in this study.
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NR 53
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3932
EI 1873-3514
J9 NEUROPSYCHOLOGIA
JI Neuropsychologia
PD JAN
PY 2014
VL 53
BP 137
EP 145
DI 10.1016/j.neuropsychologia.2013.11.008
PG 9
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AB3AG
UT WOS:000331663100014
PM 24269298
ER
PT J
AU Allman, MJ
Teki, S
Griffiths, TD
Meck, WH
AF Allman, Melissa J.
Teki, Sundeep
Griffiths, Timothy D.
Meck, Warren H.
BE Fiske, ST
TI Properties of the Internal Clock: First- and Second-Order Principles of
Subjective Time
SO ANNUAL REVIEW OF PSYCHOLOGY, VOL 65
SE Annual Review of Psychology
LA English
DT Review; Book Chapter
DE timing; time perception; clock speed; thought speed; memory translation
constant; attentional time-sharing; cerebral cortex; basal ganglia;
cerebellum
ID TRANSCRANIAL MAGNETIC STIMULATION; DEFICIT HYPERACTIVITY DISORDER;
SCALAR EXPECTANCY-THEORY; BASAL GANGLIA LESIONS; PIGEONS COLUMBA-LIVIA;
TEMPORAL MEMORY; PARKINSONS-DISEASE; PREFRONTAL CORTEX; FRONTAL-CORTEX;
WORKING-MEMORY
AB Humans share with other animals an ability to measure the passage of physical time and subjectively experience a sense of time passing. Subjective time has hallmark qualities, akin to other senses, which can be accounted for by formal, psychological, and neurobiological models of the internal clock. These include first-order principles, such as changes in clock speed and how temporal memories are stored, and second-order principles, including timescale invariance, multisensory integration, rhythmical structure, and attentional time-sharing. Within these principles there are both typical individual differences-influences of emotionality, thought speed, and psychoactive drugs-and atypical differences in individuals affected with certain clinical disorders (e.g., autism, Parkinson's disease, and schizophrenia). This review summarizes recent behavioral and neurobiological findings and provides a theoretical framework for considering how changes in the properties of the internal clock impact time perception and other psychological domains.
C1 [Allman, Melissa J.] Michigan State Univ, Dept Psychol, E Lansing, MI 48823 USA.
[Teki, Sundeep; Griffiths, Timothy D.] UCL, Wellcome Trust Ctr Neuroimaging, London WC1N 3BG, England.
[Griffiths, Timothy D.] Newcastle Univ, Sch Med, Inst Neurosci, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England.
[Meck, Warren H.] Duke Univ, Dept Psychol & Neurosci, Durham, NC 27701 USA.
RP Allman, MJ (reprint author), Michigan State Univ, Dept Psychol, E Lansing, MI 48823 USA.
EM mjallman@msu.edu; s.teki@fil.ion.ucl.ac.uk;
tim.griffiths@newcastle.ac.uk; meck@psych.duke.edu
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Zemin L, 1993, CIRCUIT SYS IEEE, V4, P2411
NR 297
TC 21
Z9 21
PU ANNUAL REVIEWS
PI PALO ALTO
PA 4139 EL CAMINO WAY, PO BOX 10139, PALO ALTO, CA 94303-0897 USA
SN 0066-4308
BN 978-0-8243-0265-8
J9 ANNU REV PSYCHOL
JI Annu. Rev. Psychol
PY 2014
VL 65
BP 743
EP 771
DI 10.1146/annurev-psych-010213-115117
PG 29
WC Psychology; Psychology, Multidisciplinary
SC Psychology
GA BJR53
UT WOS:000329821700028
PM 24050187
ER
PT J
AU Allely, CS
Gillberg, C
Wilson, P
AF Allely, C. S.
Gillberg, C.
Wilson, P.
TI Neurobiological Abnormalities in the First Few Years of Life in
Individuals Later Diagnosed with Autism Spectrum Disorder: A Review of
Recent Data
SO BEHAVIOURAL NEUROLOGY
LA English
DT Review
ID FRAGILE-X-SYNDROME; CHILDHOOD PSYCHIATRIC-DISORDERS; HEAD CIRCUMFERENCE
GROWTH; HIGH-FUNCTIONING AUTISM; AGE 2 YEARS; FRONTAL-CORTEX;
YOUNG-CHILDREN; EYE GAZE; NEUROANATOMICAL DIFFERENCES; DEVELOPMENTAL
DELAY
AB Background. Despite the widely-held understanding that the biological changes that lead to autism usually occur during prenatal life, there has been relatively little research into the functional development of the brain during early infancy in individuals later diagnosed with autism spectrum disorder (ASD). Objective. This review explores the studies over the last three years which have investigated differences in various brain regions in individuals with ASD or who later go on to receive a diagnosis of ASD. Methods. We used PRISMA guidelines and selected published articles reporting any neurological abnormalities in very early childhood in individuals with or later diagnosed with ASD. Results. Various brain regions are discussed including the amygdala, cerebellum, frontal cortex, and lateralised abnormalities of the temporal cortex during language processing. This review discusses studies investigating head circumference, electrophysiological markers, and interhemispheric synchronisation. All of the recent findings from the beginning of 2009 across these different aspects of defining neurological abnormalities are discussed in light of earlier findings. Conclusions. The studies across these different areas reveal the existence of atypicalities in the first year of life, well before ASD is reliably diagnosed. Cross-disciplinary approaches are essential to elucidate the pathophysiological sequence of events that lead to ASD.
C1 [Allely, C. S.; Gillberg, C.] Univ Glasgow, Royal Hosp Sick Children, Inst Hlth & Wellbeing, Glasgow G3 8SJ, Lanark, Scotland.
[Wilson, P.] Univ Aberdeen, Ctr Hlth Sci, Ctr Rural Hlth, Inverness IV2 3JH, Scotland.
RP Allely, CS (reprint author), Univ Glasgow, Royal Hosp Sick Children, Inst Hlth & Wellbeing, Caledonia House, Glasgow G3 8SJ, Lanark, Scotland.
EM clare.allely@glasgow.ac.uk
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NR 141
TC 2
Z9 2
PU HINDAWI PUBLISHING CORPORATION
PI NEW YORK
PA 410 PARK AVENUE, 15TH FLOOR, #287 PMB, NEW YORK, NY 10022 USA
SN 0953-4180
EI 1875-8584
J9 BEHAV NEUROL
JI Behav. Neurol.
PY 2014
AR 210780
DI 10.1155/2014/210780
PG 20
WC Clinical Neurology
SC Neurosciences & Neurology
GA AB4BB
UT WOS:000331733000001
ER
PT J
AU Burket, JA
Benson, AD
Tang, AH
Deutsch, SI
AF Burket, Jessica A.
Benson, Andrew D.
Tang, Amy H.
Deutsch, Stephen I.
TI Rapamycin improves sociability in the BTBR T(+)Itpr3(tf)/J mouse model
of autism spectrum disorders
SO BRAIN RESEARCH BULLETIN
LA English
DT Article
DE Rapamycin; NMDA receptor; mTOR signaling; Sociability; BTBR mice
ID TYROSINE-PHOSPHATASE STEP; TUBEROUS SCLEROSIS; MAMMALIAN TARGET; BALB/C
MICE; SIGNALING PATHWAY; T+TF/J MICE; MTOR; INHIBITION; RELEVANT;
STEREOTYPIES
AB Overactivation of the mammalian target of rapamycin (mTOR) has been implicated in the pathogenesis of syndromic forms of autism spectrum disorders (ASDs), such as tuberous sclerosis complex, neurofibromatosis 1, and fragile X syndrome. Administration of mTORC1 (mTOR complex 1) inhibitors (e.g. rapamycin) in syndromic mouse models of ASDs improved behavior, cognition, and neuropathology. However, since only a minority of ASDs are due to the effects of single genes (similar to 10%), there is a need to explore inhibition of mTOR activity in mouse models that may be more relevant to the majority of nonsyndromic presentations, such as the genetically inbred BTBR T+Itpr3(tf)/j (BTBR) mouse model of ASDs. BTBR mice have social impairment and exhibit increased stereotypic behavior. In prior work, D-cycloserine, a partial glycinea site agonist that targets the N-methyl-D-aspartate (NMDA) receptor, was shown to improve sociability in both Balb/c and BTBR mouse models of ASDs. Importantly, NMDA receptor activation regulates mTOR signaling activity. The current study investigated the ability of rapamycin (10 mg/kg, i.p. x four days), an mTORC1 inhibitor, to improve sociability and stereotypic behavior in BTBR mice. Using a standard paradigm to assess mouse social behavior, rapamycin improved several measures of sociability in the BTBR mouse, suggesting that mTOR overactivation represents a therapeutic target that mediates or contributes to impaired sociability in the BTBR mouse model of ASDs. Interestingly, there was no effect of rapamycin on stereotypic behaviors in this mouse model. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Burket, Jessica A.; Benson, Andrew D.; Deutsch, Stephen I.] Eastern Virginia Med Sch, Dept Psychiat & Behav Sci, Norfolk, VA 23501 USA.
[Tang, Amy H.] Eastern Virginia Med Sch, Dept Microbiol & Mol Cell Biol, Norfolk, VA 23501 USA.
[Deutsch, Stephen I.] Dept Psychiat & Behav Sci, Anne Armistead Robinson Endowed Chair Psychiat, Norfolk, VA 23507 USA.
RP Deutsch, SI (reprint author), Dept Psychiat & Behav Sci, Anne Armistead Robinson Endowed Chair Psychiat, 825 FairFax Ave,Suite 710, Norfolk, VA 23507 USA.
EM deutscsi@evms.edu
FU Office of the Dean of Eastern Virginia Medical School; Research
Enhancement Grant from Eastern Virginia Medical School; Commonwealth
Health Research Board of the Commonwealth of Virginia
FX The authors acknowledge the support they received from the Office of the
Dean of Eastern Virginia Medical School, a Research Enhancement Grant
from Eastern Virginia Medical School, and a grant from the Commonwealth
Health Research Board of the Commonwealth of Virginia.
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NR 38
TC 7
Z9 8
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0361-9230
EI 1873-2747
J9 BRAIN RES BULL
JI Brain Res. Bull.
PD JAN
PY 2014
VL 100
BP 70
EP 75
DI 10.1016/j.brainresbull.2013.11.005
PG 6
WC Neurosciences
SC Neurosciences & Neurology
GA AB0KG
UT WOS:000331480000010
PM 24295733
ER
PT J
AU Uzunova, G
Hollander, E
Shepherd, J
AF Uzunova, Genoveva
Hollander, Eric
Shepherd, Jason
TI The Role of Ionotropic Glutamate Receptors in Childhood
Neurodevelopmental Disorders: Autism Spectrum Disorders and Fragile X
Syndrome
SO CURRENT NEUROPHARMACOLOGY
LA English
DT Article
DE AMPA receptor; Arc; autism spectrum disorder; Fragile X syndrome;
GRIP1/2; kainate receptor; MAP1B; memantine; metabotropic glutamate
receptor; neuroligin; NMDA receptor
ID LONG-TERM DEPRESSION; MENTAL-RETARDATION PROTEIN; PLACEBO-CONTROLLED
TRIAL; PERVASIVE DEVELOPMENTAL DISORDERS; TYROSINE-PHOSPHATASE STEP;
DOMAIN-CONTAINING PROTEIN; ANTERIOR PIRIFORM CORTEX; FAMILY-BASED
ASSOCIATION; MOSSY FIBER SYNAPSES; FMR1 KNOCKOUT MICE
AB Autism spectrum disorder (ASD) and Fragile X syndrome (FXS) are relatively common childhood neurodevelopmental disorders with increasing incidence in recent years. They are currently accepted as disorders of the synapse with alterations in different forms of synaptic communication and neuronal network connectivity. The major excitatory neurotransmitter system in brain, the glutamatergic system, is implicated in learning and memory, synaptic plasticity, neuronal development. While much attention is attributed to the role of metabotropic glutamate receptors in ASD and FXS, studies indicate that the ionotropic glutamate receptors (iGluRs) and their regulatory proteins are also altered in several brain regions. Role of iGluRs in the neurobiology of ASD and FXS is supported by a weight of evidence that ranges from human genetics to in vitro cultured neurons. In this review we will discuss clinical, molecular, cellular and functional changes in NMDA, AMPA and kainate receptors and the synaptic proteins that regulate them in the context of ASD and FXS. We will also discuss the significance for the development of translational biomarkers and treatments for the core symptoms of ASD and FXS.
C1 [Uzunova, Genoveva; Hollander, Eric] Montefiore Med Ctr, Albert Einstein Coll Med, Dept Psychiat, Autism & Obsess Compuls Spectrum Program, Bronx, NY 10467 USA.
[Shepherd, Jason] Univ Utah, Sch Med, Dept Neurobiol & Anat, Salt Lake City, UT 84132 USA.
RP Uzunova, G (reprint author), Montefiore Med Ctr, Albert Einstein Coll Med, Dept Psychiat, Autism & Obsess Compuls Spectrum Program, 111 E 210th St, Bronx, NY 10467 USA.
EM genoveva_uzunova@msn.com
FU NINDS [4R00NS076364-03]
FX Dr. Jason Shepherd is supported by the NINDS (4R00NS076364-03).
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Zink CF, 2012, HORM BEHAV, V61, P400, DOI 10.1016/j.yhbeh.2012.01.016
NR 283
TC 2
Z9 2
PU BENTHAM SCIENCE PUBL LTD
PI SHARJAH
PA EXECUTIVE STE Y-2, PO BOX 7917, SAIF ZONE, 1200 BR SHARJAH, U ARAB
EMIRATES
SN 1570-159X
EI 1875-6190
J9 CURR NEUROPHARMACOL
JI Curr. Neuropharmacol.
PD JAN
PY 2014
VL 12
IS 1
BP 71
EP 98
DI 10.2174/1570159X113116660046
PG 28
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA AB0DL
UT WOS:000331461900006
PM 24533017
ER
PT J
AU Genuis, SJ
Lobo, RA
AF Genuis, Stephen J.
Lobo, Rebecca A.
TI Gluten Sensitivity Presenting as a Neuropsychiatric Disorder
SO GASTROENTEROLOGY RESEARCH AND PRACTICE
LA English
DT Review
ID CELIAC-DISEASE; CHEMICAL-SENSITIVITY; FREE DIET; SCHIZOPHRENIA;
SYMPTOMS; ANTIBODIES; POPULATION; PREVALENCE; ILLNESS; PATIENT
AB There has been increasing recognition in the medical community and the general public of the widespread prevalence of gluten sensitivity. Celiac disease (CD) was initially believed to be the sole source of this phenomenon. Signs and symptoms indicative of nonceliac gluten sensitivity (NCGS), in which classical serum and intestinal findings of CD may be absent, have been frequently reported of late. Clinical manifestations in patients with NCGS are characteristically triggered by gluten and are ameliorated or resolved within days to weeks of commencing a gluten-free diet. Emerging scientific literature contains several reports linking gluten sensitivity states with neuropsychiatric manifestations including autism, schizophrenia, and ataxia. A clinical review of gluten sensitivity is presented alongside a case illustrating the life-changing difference achieved by gluten elimination in a patient with a longstanding history of auditory and visual hallucinations. Physicians in clinical practice should routinely consider sensitivity issues as an etiological determinant of otherwise inexplicable symptoms. Pathophysiologic mechanisms to explain the multisystem symptomatology with gluten sensitivity are considered.
C1 [Genuis, Stephen J.] Univ Alberta, Fac Med, Edmonton, AB T6K 4C1, Canada.
[Lobo, Rebecca A.] Univ Alberta, Dept Family Med, Edmonton, AB T6G 2C8, Canada.
RP Genuis, SJ (reprint author), Univ Alberta, Fac Med, Edmonton, AB T6K 4C1, Canada.
EM sgenuis@ualberta.ca
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World Health Organization, 2013, SATE OF THE SCIENCE
NR 52
TC 2
Z9 2
PU HINDAWI PUBLISHING CORPORATION
PI NEW YORK
PA 410 PARK AVENUE, 15TH FLOOR, #287 PMB, NEW YORK, NY 10022 USA
SN 1687-6121
EI 1687-630X
J9 GASTROENT RES PRACT
JI Gastroenterol. Res. Pract.
PY 2014
AR 293206
DI 10.1155/2014/293206
PG 6
WC Gastroenterology & Hepatology
SC Gastroenterology & Hepatology
GA AB6YY
UT WOS:000331937400001
ER
PT J
AU Strecker, S
Hazelwood, ZJ
Shakespeare-Finch, J
AF Strecker, Shannon
Hazelwood, Zoe J.
Shakespeare-Finch, Jane
TI Postdiagnosis personal growth in an Australian population of parents
raising children with developmental disability
SO JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY
LA English
DT Article
DE posttraumatic growth; parents; child disability; developmental
disability; salutogenesis
ID POSTTRAUMATIC GROWTH; FAMILIES; STRESS; AUTISM; ADJUSTMENT; SURVIVORS;
OUTCOMES; MOTHERS; TRAUMA; IMPACT
AB Background Parenting a child with a developmental disability presents a variety of long-term physical and emotional challenges. When exploring parent wellbeing, the disability field is dominated by a deficit model despite parents reportedly demonstrating coping and resilience. The current study is embedded in a salutogenic theory (Antonovsky, 1979) and explores the potential for parents of children diagnosed with a developmental disability to undergo positive changes.
Method Participants were 6 fathers and 27 mothers who completed measures of distress and posttraumatic growth.
Results Compared with a number of other Australian samples, participants reported significantly higher levels of posttraumatic growth. Reports of growth did not negate reports of distress. Results also indicated that constructs of distress and growth were independent.
Conclusions The research has important implications for disability support services, reminding providers to be cognisant of the potential for growth, as well as distress, thereby permitting an atmosphere conducive to exploring such outcomes.
C1 [Strecker, Shannon; Hazelwood, Zoe J.; Shakespeare-Finch, Jane] Queensland Univ Technol, Inst Hlth & Biomed Innovat, Sch Psychol & Counselling, Brisbane, Qld 4001, Australia.
RP Hazelwood, ZJ (reprint author), Queensland Univ Technol, Sch Psychol & Counselling, Victoria Pk Rd, Kelvin Grove, Qld 4059, Australia.
EM z.hazelwood@qut.edu.au
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NR 46
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1366-8250
EI 1469-9532
J9 J INTELLECT DEV DIS
JI J. Intellect. Dev. Dis.
PY 2014
VL 39
IS 1
BP 1
EP 9
DI 10.3109/13668250.2013.835035
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AA4HT
UT WOS:000331057400001
ER
PT J
AU Leong, HM
Stephenson, J
Carter, M
AF Leong, H. M.
Stephenson, Jennifer
Carter, Mark
TI The use of sensory integration therapy in Malaysia and Singapore by
special education teachers in early intervention settings
SO JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY
LA English
DT Article
DE sensory integration therapy; early intervention; Malaysia; Singapore;
evidence-based practice; controversial therapies; desensitisation
ID AUTISM SPECTRUM DISORDERS; OCCUPATIONAL-THERAPY; MODULATION DISORDER;
CHILDREN; FIDELITY; EFFICACY; BEHAVIOR; DISABILITIES; MANAGEMENT;
STEREOTYPY
AB Background Sensory integration (SI) therapy is an intervention widely used with children with disability despite the lack of evidence regarding its efficacy.
Method A questionnaire was distributed to early intervention teachers in Malaysia and Singapore. Information was sought on how early intervention teachers learned about SI therapy, the forms of SI therapy they used, and the benefits they expected.
Results Many activities reported as SI therapy were common early intervention activities. Teachers appeared to be particularly interested in SI therapy as an intervention for challenging behaviours related to sensory stimuli but had difficulty explaining how the therapy resulted in the benefits they perceived. Teachers also reported limited monitoring of student outcomes when using SI therapy.
Conclusions In light of the very weak evidence for the efficacy of SI therapy, but noting that the intervention continues to be used, it is recommended that good monitoring practices are maintained by teachers. The intervention should be discontinued where clear progress is not evident. Teachers and therapists need additional training in evidence-based practices. Further, alternative intervention strategies should be considered for challenging behaviours related to sensory stimuli.
C1 [Leong, H. M.; Stephenson, Jennifer; Carter, Mark] Macquarie Univ, Special Educ Ctr, Sydney, NSW 2109, Australia.
RP Leong, HM (reprint author), Macquarie Univ, Special Educ Ctr, Inst Early Childhood, Sydney, NSW 2109, Australia.
EM danleohanming@gmail.com
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NR 73
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1366-8250
EI 1469-9532
J9 J INTELLECT DEV DIS
JI J. Intellect. Dev. Dis.
PY 2014
VL 39
IS 1
BP 10
EP 23
DI 10.3109/13668250.2013.854876
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AA4HT
UT WOS:000331057400002
ER
PT J
AU Trezise, KL
Gray, KM
Taffe, J
Sheppard, DM
AF Trezise, Kim L.
Gray, Kylie M.
Taffe, John
Sheppard, Dianne M.
TI Working memory in adolescent males with Down syndrome and males with
autism and intellectual disability: Implications for the classroom
SO JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY
LA English
DT Article
DE Down syndrome; autism; intellectual disability; working memory
ID SHORT-TERM-MEMORY; DEVELOPMENTAL BEHAVIOR CHECKLIST; HIGH-RESOLUTION
MRI; FRAGILE-X-SYNDROME; FUNCTIONAL NEUROANATOMY; PSYCHOMETRIC
PROPERTIES; COGNITIVE-PROCESSES; EXECUTIVE FUNCTION; CHILDREN;
DYSFUNCTION
AB Background To develop effective education strategies, a detailed knowledge of the working memory profile in Down syndrome (DS) and autism with intellectual disability (ID) is required.
Materials and Methods Fifteen adolescents with DS, 11 boys with autism and ID, and 12 boys with nonspecific ID (NSID) were compared on 2 versions of a novel working memory task that varied only in modality of presentation (visual or auditory).
Results The groups with DS and with autism and ID demonstrated significantly poorer working memory performances than the group with NSID. No predictors of working memory performance were found.
Conclusions Recommendations to support the working memory difficulties of the groups with DS and autism and ID in the classroom include reducing the amount of information to be processed at a time, as well as providing visual or verbal (as appropriate) prompts and cues to reduce the need to hold information in working memory.
C1 [Trezise, Kim L.] Monash Univ, Sch Psychiat & Psychol, Expt Neuropsychol Res Unit, Clayton, Vic 3800, Australia.
[Gray, Kylie M.; Taffe, John] Monash Univ, Ctr Dev Psychiat & Psychol, Sch Psychol & Psychiat, Clayton, Vic 3800, Australia.
[Sheppard, Dianne M.] Monash Univ, Monash Injury Res Inst, Clayton, Vic 3800, Australia.
RP Sheppard, DM (reprint author), Monash Univ, Monash Injury Res Inst, Bldg 70,Clayton Campus, Clayton, Vic 3800, Australia.
EM dianne.sheppard@monash.edu.au
RI Gray, Kylie/H-3345-2014
OI Gray, Kylie/0000-0001-6518-4240
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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 1366-8250
EI 1469-9532
J9 J INTELLECT DEV DIS
JI J. Intellect. Dev. Dis.
PY 2014
VL 39
IS 1
BP 24
EP 34
DI 10.3109/13668250.2013.874550
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AA4HT
UT WOS:000331057400003
ER
PT J
AU Cridland, EK
Caputi, P
Jones, SC
Magee, CA
AF Cridland, Elizabeth K.
Caputi, Peter
Jones, Sandra C.
Magee, Christopher A.
TI Understanding high-functioning autism during adolescence: A personal
construct theory approach
SO JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY
LA English
DT Article
DE personal construct theory; high-functioning autism; adolescence;
adolescent development; support services; Asperger syndrome
ID QUALITY-OF-LIFE; SPECTRUM DISORDERS; ASPERGER-SYNDROME;
LEARNING-DISABILITIES; SOCIAL SUPPORT; GRID TECHNIQUE; CHILDREN; FAMILY;
SYSTEM; MODEL
AB Background Personal construct theory (PCT) is a constructivist approach to understanding human thought and action. Preliminary research focusing on applying PCT concepts and methodologies to understanding individuals with high-functioning autism (HFA) has suggested its utility for both research and clinical interventions. The developmental period of adolescence has also been outlined according to PCT. However, PCT has not been applied to the more specific subgroup of adolescents with HFA, despite various theoretical tenets suggesting its utility.
Conclusions In addressing this research gap, we considered the following adolescent developmental tasks with particular reference to adolescents with HFA: (a) functioning within the increasingly complex world of adulthood, (b) identity development, and (c) development of higher order processing styles (including abstract thinking and flexible processing). These issues were described using PCT concepts. Finally, we considered ways to support individuals and families living with adolescents with HFA.
C1 [Cridland, Elizabeth K.; Caputi, Peter] Univ Wollongong, Sch Psychol, Wollongong, NSW 2522, Australia.
[Cridland, Elizabeth K.; Caputi, Peter; Jones, Sandra C.; Magee, Christopher A.] Univ Wollongong, Ctr Hlth Initiat, Wollongong, NSW 2522, Australia.
RP Cridland, EK (reprint author), Univ Wollongong, Sch Psychol, Bldg 41, Wollongong, NSW 2522, Australia.
EM ekc977@uowmail.edu.au
RI Jones, Sandra/D-3854-2011
OI Jones, Sandra/0000-0002-0258-3348
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NR 70
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1366-8250
EI 1469-9532
J9 J INTELLECT DEV DIS
JI J. Intellect. Dev. Dis.
PY 2014
VL 39
IS 1
BP 108
EP 118
DI 10.3109/13668250.2013.870331
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AA4HT
UT WOS:000331057400012
ER
PT J
AU Evert, H
AF Evert, Helen
TI CBT for Children and Adolescents With High-Functioning Autism Spectrum
Disorders
SO JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY
LA English
DT Book Review
C1 [Evert, Helen] Deakin Univ, Melbourne, Vic, Australia.
RP Evert, H (reprint author), Deakin Univ, Melbourne, Vic, Australia.
EM helen.evert@deakin.edu.au
CR Scarpa A., 2013, CBT CHILDREN ADOLESC
NR 1
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1366-8250
EI 1469-9532
J9 J INTELLECT DEV DIS
JI J. Intellect. Dev. Dis.
PY 2014
VL 39
IS 1
BP 119
EP 120
DI 10.3109/13668250.2014.875450
PG 2
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AA4HT
UT WOS:000331057400013
ER
PT J
AU Stiel, B
Clifford, CWG
Mareschal, I
AF Stiel, Ben
Clifford, Colin W. G.
Mareschal, Isabelle
TI Adaptation to vergent and averted eye gaze
SO JOURNAL OF VISION
LA English
DT Article
DE gaze; adaptation; vergence
ID SUPERIOR TEMPORAL SULCUS; VISUAL REPRESENTATION; PERCEPTION; DIRECTION;
LOOKING; FACE; CATEGORIES; AUTISM; ME
AB Previous adaptation studies have revealed the tuning properties of mechanisms coding left-right averted gaze. Here, Experiment 1 used an adaptation procedure to investigate the mechanisms that encode vergent eye gaze. Following prolonged exposure to convergent or divergent gaze, observers were more likely to categorize smaller gaze deviations in the adapted direction as parallel (i.e., nonvergent). We then examined whether adaptation was occurring to the eyes independently (monocular gaze direction) as opposed to the two eyes as a unitary stimulus (binocular gaze direction). In Experiment 2, we interleaved presentations of convergent and divergent adaptors and tested with either congruent (vergent) or incongruent (left-right) stimuli. Similarly, we interleaved presentations of leftward-and rightward-averted adaptors and tested with congruent (left-right) and incongruent (vergent) stimuli. If adaptation were driven solely by monocular gaze direction, congruent and incongruent adaptation would be similar because, at the level of an individual eye, the stimuli are identical. We find considerable adaptation in the incongruent conditions, consistent with adaptation to individual eye directions. However, we also find greater adaptation in congruent conditions, implicating the involvement of mechanisms that encode binocular gaze direction.
C1 [Stiel, Ben; Clifford, Colin W. G.; Mareschal, Isabelle] Univ Sydney, Sch Psychol, Sydney, NSW 2006, Australia.
[Stiel, Ben; Clifford, Colin W. G.; Mareschal, Isabelle] Univ Sydney, Australian Ctr Excellence Vis Sci, Sydney, NSW 2006, Australia.
[Clifford, Colin W. G.] Univ New S Wales, Sch Psychol, Sydney, NSW, Australia.
[Mareschal, Isabelle] Queen Mary Univ London, Sch Biol & Chem Sci, London, England.
RP Mareschal, I (reprint author), Queen Mary Univ London, Sch Biol & Chem Sci, London, England.
EM i.mareschal@qmul.ac.uk
FU Australian Research Council Discovery Project [DP120102589]; Australian
Research Council Centre of Excellence in Vision Science; Australian
Research Council Future Fellowship [FT110100150]
FX This work is supported by Australian Research Council Discovery Project
DP120102589 to CC and Dr. Andy Calder and the Australian Research
Council Centre of Excellence in Vision Science. CC is supported by
Australian Research Council Future Fellowship FT110100150. Many thanks
to Cliff Deyo for his generous assistance in revising an earlier draft
of this manuscript.
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NR 39
TC 0
Z9 0
PU ASSOC RESEARCH VISION OPHTHALMOLOGY INC
PI ROCKVILLE
PA 12300 TWINBROOK PARKWAY, ROCKVILLE, MD 20852-1606 USA
SN 1534-7362
J9 J VISION
JI J. Vision
PY 2014
VL 14
IS 1
DI 10.1167/14.1.15
PG 10
WC Ophthalmology
SC Ophthalmology
GA AA6QN
UT WOS:000331223000015
ER
PT J
AU Caldwell-Harris, CL
Jordan, CJ
AF Caldwell-Harris, Catherine L.
Jordan, Chloe J.
TI Systemizing and special interests: Characterizing the continuum from
neurotypical to autism spectrum disorder
SO LEARNING AND INDIVIDUAL DIFFERENCES
LA English
DT Article
DE Autism spectrum disorder; Asperger syndrome; Special interests; Adults;
Systemizing
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; SEX-DIFFERENCES; QUOTIENT
AQ; CHILDREN; PERFORMANCE; ATTENTION; EMPATHY; ADULTS
AB Special interests have been studied in children with autism spectrum disorder (ASD) but not in adults. Using an online survey, it was found that individuals with ASD reported more intense interests in systemizable domains, relative to neurotypical adults. Self-reported systemizing preference was correlated with intensity of interest in systemizable domains both for those with ASD and for neurotypical young adults. Few gender differences were found in the neurotypical group in the expected categories of machines, technology and vehicles, where gender differences have been found in children. Gender differences in these categories did appear for the ASD group. We propose a strength-based model of special interests, with the hobbies of neurotypical forming a continuum with the special interests of ASD. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Caldwell-Harris, Catherine L.; Jordan, Chloe J.] Boston Univ, Dept Psychol, Boston, MA 02275 USA.
RP Caldwell-Harris, CL (reprint author), Boston Univ, Dept Psychol, 64 Cummington St, Boston, MA 02275 USA.
EM charris@bu.edu
CR Armstrong T, 2011, POWER NEURODIVERSITY
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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 1041-6080
EI 1873-3425
J9 LEARN INDIVID DIFFER
JI Learn. Individ. Differ.
PD JAN
PY 2014
VL 29
BP 98
EP 105
DI 10.1016/j.lindif.2013.10.005
PG 8
WC Psychology, Educational
SC Psychology
GA AA9NO
UT WOS:000331420400012
ER
PT J
AU Lee, JH
Choi, E
Song, M
Shin, BS
AF Lee, Jin-Hee
Choi, Eikyu
Song, Minseok
Shin, Byeong-Seok
TI Dreamware: edutainment system for children with developmental disability
SO MULTIMEDIA TOOLS AND APPLICATIONS
LA English
DT Article
DE Edutainment system; Multimedia system; Embedded system; Developmental
disability; Authoring tool; Sensory integration
ID DISORDER; AUTISM; PLAY
AB We designed and implemented an edutainment platform, Dreamware. It effectively helps education, sensibility treatment and intelligence training for children with developmental disability. We developed special toy-like hardware and software tools: a content authoring tool that makes a variety of multimedia content operating on the hardware, a management tool that provides training results to instructors, and a real-time monitoring tool to observe the current state of learning. The hardware is designed to consider the characteristics of children with developmental disability. It can provide sensibility training, such as visual, auditory, and tactile senses to them. The easy-to-use authoring tool enables teachers and non-specialists to make educational content conveniently. In addition, the real-time monitoring tool helps observe the user's status, even outside the classroom. The management tool stores training results and provides the result for further steps. Efficient repetitive training is possible without restriction of time and location using this platform. We can recognize that our system is effective in improving their concentration and learning.
C1 [Lee, Jin-Hee; Choi, Eikyu; Song, Minseok; Shin, Byeong-Seok] Inha Univ, Dept Comp Sci & Informat Engn, Inchon 402751, South Korea.
RP Shin, BS (reprint author), Inha Univ, Dept Comp Sci & Informat Engn, 253 Yonghyun Dong, Inchon 402751, South Korea.
EM jhlee07@inhaian.net; luciel95@hanmail.net; mssong@inha.ac.kr;
bsshin@inha.ac.kr
FU IT R&D program of MKE/KEIT [10035243]
FX This work was supported by the IT R&D program of MKE/KEIT. [10035243,
Component based Design Theory and Control Kernel for CPS].
CR Ayres JA, 1979, SENSORY INTEGRATION
Bovet Daniel, 2006, UNDERSTANDING LINUX
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NR 19
TC 3
Z9 3
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 1380-7501
EI 1573-7721
J9 MULTIMED TOOLS APPL
JI Multimed. Tools Appl.
PD JAN
PY 2014
VL 68
IS 2
BP 305
EP 319
DI 10.1007/s11042-012-1089-x
PG 15
WC Computer Science, Information Systems; Computer Science, Software
Engineering; Computer Science, Theory & Methods; Engineering, Electrical
& Electronic
SC Computer Science; Engineering
GA AA4RI
UT WOS:000331083400008
ER
PT J
AU Galindo, LM
Lopez-Pison, J
Villagrasa, PS
Segura, JLP
AF Monge Galindo, L.
Lopez-Pison, J.
Samper Villagrasa, P.
Pena Segura, J. L.
TI Changes in the demand for paediatric neurology care in a spanish
tertiary care hospital over a 20-year period
SO NEUROLOGIA
LA Spanish
DT Article
DE Medical care; Developmental delay disorders; Autism; Rare diseases;
Paediatric neurology
ID DEVELOPMENTAL DELAY; CLINICAL-PRACTICE; ATTENTION; SCHOOLCHILDREN;
HEADACHE; DISORDER; CHILD
AB Objective: The purpose of this study is to determine the profile of the demand for paediatric neurology care in a Spanish tertiary hospital over the past 20 years.
Method: We studied epidemiological data, reasons for consultation, diagnoses and complementary tests from all patients examined by our Paediatric Neurology Unit in its 20 years of service (from May 1990 to March 2010). We also reviewed data from patients whose first visit took place within the last five years (2005-2010) and compared them to data obtained from a prior study carried out in this Unit from 1990 to 1995. To compare the first 5 years (group 1) with the last 5 years (group 2), we calculated confidence intervals, P<.05, for the frequency distribution (%) in each category.
Results: Main reasons for consultation and principal diagnoses for the 12726, patients evaluated in the 20-year period, as well as results from group 1 (2046 patients) and group 2 (4488 patients) corresponding to first and the last 5 years of activity respectively, are presented with their confidence intervals in a series of tables.
Conclusions: Variations in the reasons for consultation, diagnoses and complementary tests over time reflect changes determined by medical, scientific and social progress, and organisational changes specific to each hospital. This explains the difficulty of comparing different patient series studied consecutively, which are even more pronounced between different hospitals. (C) 2012 Sociedad Espanola de Neurologia. Published by Elsevier Espana, S.L. All rights reserved.
C1 [Monge Galindo, L.; Lopez-Pison, J.; Pena Segura, J. L.] Hosp Univ Miguel Servet, Unidad Neuropediat, Zaragoza, Spain.
[Samper Villagrasa, P.] Univ Zaragoza, Zaragoza, Spain.
RP Galindo, LM (reprint author), Hosp Univ Miguel Servet, Unidad Neuropediat, Zaragoza, Spain.
EM pediatriazaragoza@hotmail.com
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NR 19
TC 0
Z9 0
PU ELSEVIER DOYMA SL
PI BARCELONA
PA TRAVESERA DE GARCIA, 17-21, BARCELONA, 08021, SPAIN
SN 0213-4853
EI 1578-1968
J9 NEUROLOGIA
JI Neurologia
PD JAN-FEB
PY 2014
VL 29
IS 1
BP 36
EP 41
DI 10.1016/j.nrl.2012.11.005
PG 6
WC Clinical Neurology
SC Neurosciences & Neurology
GA AA8OB
UT WOS:000331353700005
ER
PT J
AU Sung, M
Chin, CH
Lim, CG
Liew, HSA
Lim, CS
Kashala, E
Weng, SJ
AF Sung, Min
Chin, Chee Hon
Lim, Choon Guan
Liew, Hwee Sen Alvin
Lim, Chau Sian
Kashala, Esperance
Weng, Shih-Jen
TI What's in the pipeline? Drugs in development for autism spectrum
disorder
SO NEUROPSYCHIATRIC DISEASE AND TREATMENT
LA English
DT Review
DE pharmacology; treatment; autism; Asperger's syndrome; medication
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; PLACEBO-CONTROLLED TRIAL;
OPEN-LABEL TRIAL; RANDOMIZED CONTROLLED-TRIAL; DOUBLE-BLIND; REPETITIVE
BEHAVIORS; INTRANASAL OXYTOCIN; ATYPICAL ANTIPSYCHOTICS;
PEDIATRIC-PATIENTS; ADOLESCENT AUTISM
AB Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with both core symptoms and associated symptoms (eg, irritability, aggression, and comorbidities) that affect both the individual and the family/systems around them. There have been recent advances in the understanding of the underlying pathophysiology of ASD pertaining to genetics, epigenetics, neurological, hormonal, and environmental factors that contribute to the difficulties found in individuals with ASD. With this improved understanding, there has been a shift in the application of psychopharmacology in ASD and its related disorders. A literature review was conducted to examine research published in the last 5 years between different classes of psychotropic medications and ASD. The broad scope of the existing literature for the use of conventional medications is summarized and novel medications are discussed.
C1 [Sung, Min; Chin, Chee Hon; Lim, Choon Guan; Liew, Hwee Sen Alvin; Kashala, Esperance; Weng, Shih-Jen] Inst Mental Hlth, Dept Child & Adolescent Psychiat, Singapore, Singapore.
[Lim, Chau Sian] Khoo Teck Puat Hosp, Dept Psychol Med, Singapore, Singapore.
RP Sung, M (reprint author), Child Guidance Clin, Hlth Promot Board Bldg,3 Second Hosp Ave 03-01, Singapore 168937, Singapore.
EM min_sung@imh.com.sg
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NR 125
TC 2
Z9 2
PU DOVE MEDICAL PRESS LTD
PI ALBANY
PA PO BOX 300-008, ALBANY, AUCKLAND 0752, NEW ZEALAND
SN 1176-6328
EI 1178-2021
J9 NEUROPSYCH DIS TREAT
JI Neuropsychiatr. Dis. Treat.
PY 2014
VL 10
BP 371
EP 381
DI 10.2147/NDT.S39516
PG 11
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AB5ZH
UT WOS:000331866700001
PM 24591832
ER
PT J
AU Rodrigues, DH
Rocha, NP
Sousa, LFD
Barbosa, IG
Kummer, A
Teixeira, AL
AF Rodrigues, David Henrique
Rocha, Natalia Pessoa
Sousa, Larissa Fonseca da Cunha
Barbosa, Izabela Guimaraes
Kummer, Arthur
Teixeira, Antonio Lucio
TI Changes in Adipokine Levels in Autism Spectrum Disorders
SO NEUROPSYCHOBIOLOGY
LA English
DT Article
DE Autism; Adipokines; Cytokines; Immune system
ID INSULIN-RESISTANCE; PLASMA LEPTIN; ADIPONECTIN; EXPRESSION;
INFLAMMATION; OBESITY; DISEASE
AB Background and Objective: The etiopathogenesis of autism spectrum disorders (ASD) is largely unknown, but it seems to involve dysfunction in several biological systems. Among many possible biological pathways, the immune system has emerged as potentially involved. Recent studies have shown association between cytokines (molecules that mediate immune cell interaction) and ASD. Adipokines are cytokines secreted mainly by adipose tissue and may have systemic effects. The main objective of this study was to compare the plasma levels of three adipokines between patients with ASD and healthy controls. Another aim was to correlate the levels of these adipokines and the severity of autistic symptoms as measured by the Social Responsiveness Scale (SRS). Methods: We collected plasma from 30 patients and 19 controls and measured the levels of adiponectin, leptin and resistin using a commercially available kit. We also used the SRS as a tool to assess the severity of autistic symptoms. Results: We found decreased levels of resistin, increased levels of leptin and unaltered levels of adiponectin in plasma from ASD subjects in comparison with controls. There was also a negative correlation between the levels of adiponectin and the severity of symptoms as assessed by the SRS. Conclusion: There are significant changes in the plasma levels of adipokines from patients with ASDs. They suggest the occurrence of systemic changes in ASD and may be hallmarks of the disease. (C) 2013 S. Karger AG, Basel
C1 [Rodrigues, David Henrique; Rocha, Natalia Pessoa; Sousa, Larissa Fonseca da Cunha; Barbosa, Izabela Guimaraes; Teixeira, Antonio Lucio] Univ Fed Minas Gerais, Sch Med, Translat Psychoneuroimmunol Grp, Lab Imunofarmacol, BR-31270901 Belo Horizonte, MG, Brazil.
[Barbosa, Izabela Guimaraes; Kummer, Arthur; Teixeira, Antonio Lucio] Univ Fed Minas Gerais, Sch Med, Neuropsychiat Branch, Neurol Unit, BR-31270901 Belo Horizonte, MG, Brazil.
[Kummer, Arthur] Univ Fed Minas Gerais, Sch Med, Dept Mental Hlth, BR-31270901 Belo Horizonte, MG, Brazil.
RP Rodrigues, DH (reprint author), Univ Fed Minas Gerais, Lab Imunofarmacol, Dept Bioquim & Imunol, Inst Ciencias Biol, Bloco 04,Sala 202,Av Antonio Carlos 6627, BR-31270901 Belo Horizonte, MG, Brazil.
EM dhenrodrigues@gmail.com
FU CAPES; CNPq; Fapemig, Brazil
FX This work was funded by CAPES, CNPq, and Fapemig, Brazil.
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NR 28
TC 0
Z9 0
PU KARGER
PI BASEL
PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
SN 0302-282X
EI 1423-0224
J9 NEUROPSYCHOBIOLOGY
JI Neuropsychobiology
PY 2014
VL 69
IS 1
BP 6
EP 10
DI 10.1159/000356234
PG 5
WC Neurosciences; Psychiatry; Psychology
SC Neurosciences & Neurology; Psychiatry; Psychology
GA AB3DA
UT WOS:000331670300002
PM 24401207
ER
PT J
AU Kayama, M
Haight, W
AF Kayama, Misa
Haight, Wendy
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Children's Differences
SO SOCIAL WORK
LA English
DT Article
DE Japan; cognitive and behavioral disabilities; special education;
stigma-sensitive practice; support for families
ID STATE CARE; PERSPECTIVES; MOTHERS
AB In this report, part of a larger ethnographic study, the authors examined the support Japanese elementary school educators provide to parents of children with relatively mild cognitive and behavioral disabilities, such as learning disabilities, attention deficit/hyperactivity disorders, and high-functioning autism. Conditions that affect children's learning and behaviors are widespread, but cultures vary in responses to children with such difficulties and their families. In many cultures, disability remains a sensitive issue due to lingering stigma. Japan's recent implementation of special education services for children with mild cognitive and behavioral disabilities provided a unique context in which to examine otherwise taken-for-granted beliefs and practices related to disability. Participant observations in a Japanese elementary school and individual interviews with educators and parents suggest that parents' sensitivity to other people's "eyes," or stigma, can be an obstacle to their acceptance of their children's need for special education, permission for their children to receive services, and collaboration with educators. Educators supported parents through a steadfast focus on emotional support, communication, relationship building, and partnerships. Japanese practices and adults' reflections on stigma provide a broader context for international, school, and other social workers to reflect on their own beliefs and practices with families of children with disabilities.
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RP Kayama, M (reprint author), Univ Minnesota Twin Cities, Sch Social Work, 1404 Gortner Ave, St Paul, MN 55108 USA.
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NR 28
TC 1
Z9 1
PU OXFORD UNIV PRESS INC
PI CARY
PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA
SN 0037-8046
EI 1545-6846
J9 SOC WORK
JI Soc. Work
PD JAN
PY 2014
VL 59
IS 1
BP 24
EP 33
DI 10.1093/sw/swt027
PG 10
WC Social Work
SC Social Work
GA AB0ER
UT WOS:000331465100003
PM 24640228
ER
PT J
AU Rudolph, U
Mohler, H
AF Rudolph, Uwe
Moehler, Hanns
BE Insel, PA
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Affective Disorders, Schizophrenia, and Autism
SO ANNUAL REVIEW OF PHARMACOLOGY AND TOXICOLOGY, VOL 54
SE Annual Review of Pharmacology and Toxicology
LA English
DT Review; Book Chapter
DE Down syndrome; cognition enhancer; anxiolytics; depression;
schizophrenia; autism
ID GAMMA-AMINOBUTYRIC-ACID; LONG-TERM POTENTIATION; SELECTIVE INVERSE
AGONIST; MAJOR DEPRESSIVE DISORDER; ALPHA-5 SUBUNIT; TONIC INHIBITION;
TS65DN MOUSE; BENZODIAZEPINE SITE; COGNITIVE DEFICITS; CONDITIONED FEAR
AB The gamma-aminobutyric acid (GABA) system plays a pivotal role in orchestrating the synchronicity of local networks and the functional coupling of different brain regions. Here we review the impact of the GABA(A) receptor subtypes on cognitive and emotional behavior, paying particular attention to five disease states: cognitive dysfunction and Down syndrome, anxiety disorders, depression, schizophrenia, and autism. Through the bidirectional modulation of tonic inhibition, alpha(5)-subunit-containing GABA(A) receptors permit the bidirectional modulation of cognitive processes, and a partial inverse agonist acting at the alpha(5)-subunit-containing GABA(A) receptor is in a clinical trial in individuals with Down syndrome. With regard to anxiety disorders, the viability of nonsedative anxiolytics based on the modulation of alpha(2)- and alpha(3)-subunit-containing GABA(A) receptors has been established in clinical proof-of-concept trials. Regarding the remaining three disease states, the GABA hypothesis of depression offers new options for antidepressant drug development; cognitive symptoms in schizophrenia are attributed to a cortical GABAergic deficit, and dysfunctional GABAergic inhibition is increasingly understood to contribute to the pathophysiology of autism spectrum disorders.
C1 [Rudolph, Uwe] Harvard Univ, McLean Hosp, Sch Med, Lab Genet Neuropharmacol, Belmont, MA 02478 USA.
[Rudolph, Uwe] Harvard Univ, Sch Med, Dept Psychiat, Belmont, MA 02478 USA.
[Moehler, Hanns] Univ Zurich, Inst Pharmacol, CH-8057 Zurich, Switzerland.
[Moehler, Hanns] Univ Zurich, Ctr Neurosci, CH-8057 Zurich, Switzerland.
[Moehler, Hanns] Swiss Fed Inst Technol, Swiss Fed Inst Technol, Dept Chem & Appl Biosci, CH-8057 Zurich, Switzerland.
RP Rudolph, U (reprint author), Harvard Univ, McLean Hosp, Sch Med, Lab Genet Neuropharmacol, Belmont, MA 02478 USA.
EM urudolph@mclean.harvard.edu; mohler@pharma.uzh.ch
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NR 149
TC 12
Z9 12
PU ANNUAL REVIEWS
PI PALO ALTO
PA 4139 EL CAMINO WAY, PO BOX 10139, PALO ALTO, CA 94303-0897 USA
SN 0362-1642
BN 978-0-8243-0454-6
J9 ANNU REV PHARMACOL
JI Annu. Rev. Pharmacol. Toxicol.
PY 2014
VL 54
BP 483
EP 507
DI 10.1146/annurev-pharmtox-011613-135947
PG 25
WC Pharmacology & Pharmacy; Toxicology
SC Pharmacology & Pharmacy; Toxicology
GA BJR57
UT WOS:000329822200023
PM 24160694
ER
PT J
AU Aida, T
Imahashi, R
Tanaka, K
AF Aida, Tomomi
Imahashi, Risa
Tanaka, Kohichi
TI Translating human genetics into mouse: The impact of ultra-rapid in vivo
genome editing
SO DEVELOPMENT GROWTH & DIFFERENTIATION
LA English
DT Review
DE clustered; regularly interspaced; short palindromic repeats- associated
endonuclease; genome editing; mouse; transcription activator-like
effector nucleases; zinc-finger nucleases
ID ZINC-FINGER NUCLEASES; DE-NOVO MUTATIONS; GLUTAMATE TRANSPORTERS GLAST;
NORMAL-TENSION GLAUCOMA; ONE-STEP GENERATION; EMBRYO MICROINJECTION;
COMMON DISEASE; MICE LACKING; MECP2; AUTISM
AB Gene-targeted mutant animals, such as knockout or knockin mice, have dramatically improved our understanding of the functions of genes in vivo and the genetic diversity that characterizes health and disease. However, the generation of targeted mice relies on gene targeting in embryonic stem (ES) cells, which is a time-consuming, laborious, and expensive process. The recent groundbreaking development of several genome editing technologies has enabled the targeted alteration of almost any sequence in any cell or organism. These technologies have now been applied to mouse zygotes (in vivo genome editing), thereby providing new avenues for simple, convenient, and ultra-rapid production of knockout or knockin mice without the need for ES cells. Here, we review recent achievements in the production of gene-targeted mice by in vivo genome editing.
C1 [Aida, Tomomi; Imahashi, Risa; Tanaka, Kohichi] Tokyo Med & Dent Univ, Med Res Inst, Lab Mol Neurosci, Bunkyo Ku, Tokyo 1138510, Japan.
[Tanaka, Kohichi] Tokyo Med & Dent Univ, Ctr Brain Integrat Res, Bunkyo Ku, Tokyo 1138510, Japan.
[Tanaka, Kohichi] CREST, JST, Kawaguchi, Saitama 3320012, Japan.
RP Tanaka, K (reprint author), Tokyo Med & Dent Univ, Med Res Inst, Lab Mol Neurosci, Bunkyo Ku, 1-5-45 Yushima, Tokyo 1138510, Japan.
EM tanaka.aud@mri.tmd.ac.jp
FU Strategic Research Program for Brain Sciences (SRPBS) from Ministry of
Education, Culture, Sports, Science and Technology of Japan; CREST from
Japan Science Technology Agency
FX This work was supported by Strategic Research Program for Brain Sciences
(SRPBS) from Ministry of Education, Culture, Sports, Science and
Technology of Japan, and CREST from Japan Science Technology Agency to
K. T. We thank T. Yamamoto and T. Sakuma (Hiroshima University) for
technical support and useful discussions, H. Ishikubo and T. Usami
(Tokyo Medical and Dental University) for technical support, and M. Abe
(Niigata University) and K. Tanaka (Keio University) for useful
discussions.
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NR 64
TC 9
Z9 9
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0012-1592
EI 1440-169X
J9 DEV GROWTH DIFFER
JI Dev. Growth Diff.
PD JAN
PY 2014
VL 56
IS 1
SI SI
BP 34
EP 45
DI 10.1111/dgd.12101
PG 12
WC Cell Biology; Developmental Biology
SC Cell Biology; Developmental Biology
GA AA4JJ
UT WOS:000331061600005
PM 24444057
ER
PT J
AU Nordenbaek, C
Jorgensen, M
Kyvik, KO
Bilenberg, N
AF Nordenbaek, Claudia
Jorgensen, Meta
Kyvik, Kirsten Ohm
Bilenberg, Niels
TI A Danish population-based twin study on autism spectrum disorders
SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
LA English
DT Article
DE Autism spectrum disorders; Twins; Concordance rates; Population based;
Screening
ID PERVASIVE DEVELOPMENTAL DISORDERS; SOCIAL COMMUNICATION QUESTIONNAIRE;
CHILD-PSYCHIATRIC-DISORDERS; DIAGNOSTIC INTERVIEW; SCREENING
QUESTIONNAIRE; ENVIRONMENTAL-FACTORS; PRESCHOOL-CHILDREN;
ASPERGER-SYNDROME; PREVALENCE; PAIRS
AB Genetic epidemiological studies of Autism Spectrum Disorders (ASDs) based on twin pairs ascertained from the population and thoroughly assessed to obtain a high degree of diagnostic validity are few. All twin pairs aged 3-14 years in the nationwide Danish Twin Registry were approached. A three-step procedure was used. Five items from the "Child Behaviour Checklist" (CBCL) were used in the first screening phase, while screening in the second phase included the "Social and Communication Questionnaire" and the "Autism Spectrum Screening Questionnaire". The final clinical assessment was based on "gold standard" diagnostic research procedures including diagnostic interview, observation and cognitive examination. Classification was based on DSM-IV-TR criteria. The initial sample included 7,296 same-sexed twin pairs and, after two phases of screening and clinical assessment, the final calculations were based on 36 pairs. The probandwise concordance rate for ASD was 95.2 % in monozygotic (MZ) twins (n = 13 pairs) and 4.3 % in dizygotic (DZ) twins (n = 23 pairs). The high MZ and low DZ concordance rate support a genetic aetiology to ASDs.
C1 [Nordenbaek, Claudia; Bilenberg, Niels] Univ Southern Denmark, Dept Child & Adolescent Psychiat Odense, DK-5000 Odense C, Denmark.
[Jorgensen, Meta] Aarhus Univ Hosp, Psychiat Hosp Children & Adolescents, DK-8800 Aarhus, Denmark.
[Kyvik, Kirsten Ohm] Univ Southern Denmark, Inst Reg Hlth Serv Res, DK-5000 Odense C, Denmark.
[Kyvik, Kirsten Ohm] Univ Southern Denmark, Odense Patient Data Explorat Network OPEN, DK-5000 Odense C, Denmark.
RP Nordenbaek, C (reprint author), Univ Southern Denmark, Dept Child & Adolescent Psychiat Odense, Sdr Blvd 29, DK-5000 Odense C, Denmark.
EM claudia@dadlnet.dk
RI Bilenberg, Niels/I-6027-2014
FU Danish Research Council; Psychiatric Research Foundation in the Region
of Southern Denmark; Clinical Institute at University of Southern
Denmark; Beatrice Surovell Haskell Foundation for Child Mental Health
Research of Copenhagen; Ludvig and Sara Elsass Foundation
FX We are very grateful to all the twin families who participated in this
study. The study has been supported by grants from the Danish Research
Council, the Psychiatric Research Foundation in the Region of Southern
Denmark, the Clinical Institute at University of Southern Denmark, the
Beatrice Surovell Haskell Foundation for Child Mental Health Research of
Copenhagen and the Ludvig and Sara Elsass Foundation.
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NR 71
TC 9
Z9 10
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 JAN
PY 2014
VL 23
IS 1
BP 35
EP 43
DI 10.1007/s00787-013-0419-5
PG 9
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AA1AJ
UT WOS:000330828200005
PM 23661220
ER
PT J
AU Weiner, RH
Greene, RL
AF Weiner, Robert H.
Greene, Roger L.
TI INTENTION-BASED THERAPY FOR AUTISM SPECTRUM DISORDER: PROMISING RESULTS
OF A WAIT-LIST CONTROL STUDY IN CHILDREN
SO EXPLORE-THE JOURNAL OF SCIENCE AND HEALING
LA English
DT Article
DE Intention; consciousness; autism; ASD; NeuroModulation Technique;
therapy; treatment
ID ABERRANT BEHAVIOR CHECKLIST; SUBJECT VARIABLES; RATING-SCALE;
INTERVENTION; INDIVIDUALS; KINESIOLOGY; VALIDITY
AB Background: Autism is a complex neurodevelopmental disability that usually manifests during the first three years of life and typically lasts throughout a person's lifetime. The purpose of this study is to investigate the efficacy of NeuroModulation Technique (NMT), a form of intention-based therapy, in improving functioning in children diagnosed with autism.
Methods: A total of 18 children who met the study criteria were selected to participate. All children completed baseline measures. The children in the experimental group (n = 9) received two sessions a week of NMT for six weeks. Then, children in the wait-list control group (n = 9) received two sessions a week of NMT for six weeks. Primary efficacy outcome measures included the Pervasive Developmental Disorder Behavioral Inventory Autism Composite Index, the Aberrant Behavior Checklist Community Total Score, and the Autism Treatment Evaluation Checklist Total Score. Our hypotheses were that children in both groups would show significant improvement over their respective baseline scores following NMT treatment, which would reflect an improvement in adaptive behaviors as well as a decrease in maladaptive behaviors.
Results: Statistical analysis indicates a significant improvement in both the experimental and wait-list control group on all primary outcome measures following NMT treatment. The wait-list control group demonstrated no significant improvement on test measures over baseline scores during the wait period. No adverse reactions were reported.
Conclusions: These findings suggest that NMT is a promising intervention for autism that has the potential to produce a significant reduction in maladaptive behaviors and a significant increase in adaptive behaviors within a relatively short period of time.
C1 [Greene, Roger L.] Palo Alto Univ, Palo Alto, CA USA.
RP Weiner, RH (reprint author), 8499 Greenville Ave,Suite 106, Dallas, TX 75231 USA.
EM dr.r.weiner@gmail.com
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NR 48
TC 1
Z9 1
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1550-8307
EI 1878-7541
J9 EXPLORE-NY
JI Explore-J Sci. Heal.
PD JAN-FEB
PY 2014
VL 10
IS 1
BP 13
EP 23
DI 10.1016/j.explore.2013.10.005
PG 11
WC Integrative & Complementary Medicine
SC Integrative & Complementary Medicine
GA AA2KI
UT WOS:000330923100005
PM 24439092
ER
PT J
AU Benton, L
Johnson, H
AF Benton, Laura
Johnson, Hilary
TI Structured approaches to participatory design for children: can
targeting the needs of children with autism provide benefits for a
broader child population?
SO INSTRUCTIONAL SCIENCE
LA English
DT Article
DE Participatory design; Technology design; Children with special needs;
Structured design process
ID TECHNOLOGY
AB In the past technology products created to overcome accessibility and usability issues experienced by individuals with special needs have also resulted in greater usability for the wider population. Technology is increasingly being seen as a key component within the education of children with special needs and recently researchers have developed tailored approaches to involving this population in designing the technology. However, it is not known if these approaches could also benefit participation in a wider population. This paper investigates the potential benefits of using a new structured and supportive participatory design (PD) approach IDEAS, tailored to the specific needs of children with autism spectrum disorders (ASD), for mainstream schoolchildren. The development of this new approach is guided by the TEACCH program and additionally draws on ideas from existing PD approaches for children. A study has been undertaken to trial this approach with four design teams, two teams including children with ASD and two teams including mainstream schoolchildren. Their design task was to develop a mathematics game over a series of six design sessions following the IDEAS approach. The findings reveal that a structured and supportive PD approach can benefit both children with ASD and mainstream children. However, these benefits varied between and within different groups, with some children requiring the additional structure/support more than others. Future work intends to build upon these findings to develop a PD toolbox for a broader child population, enabling researchers to provide appropriate tailored support based on children's individual characteristics and needs.
C1 [Benton, Laura; Johnson, Hilary] Univ Bath, Bath BA2 7AY, Avon, England.
RP Benton, L (reprint author), Univ London, Inst Educ, London WC1N 1AZ, England.
EM l.benton@ioe.ac.uk
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NR 20
TC 4
Z9 4
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0020-4277
EI 1573-1952
J9 INSTR SCI
JI Instr. Sci.
PD JAN
PY 2014
VL 42
IS 1
SI SI
BP 47
EP 65
DI 10.1007/s11251-013-9297-y
PG 19
WC Education & Educational Research; Psychology, Educational
SC Education & Educational Research; Psychology
GA AA0JP
UT WOS:000330781700004
ER
PT J
AU Waga, C
Asano, H
Sanagi, T
Suzuki, E
Nakamura, Y
Tsuchiya, A
Itoh, M
Goto, Y
Kohsaka, S
Uchino, S
AF Waga, Chikako
Asano, Hirotsugu
Sanagi, Tomomi
Suzuki, Eri
Nakamura, Yasuko
Tsuchiya, Akiko
Itoh, Masayuki
Goto, Yu-ichi
Kohsaka, Shinichi
Uchino, Shigeo
TI Identification of two novel Shank3 transcripts in the developing mouse
neocortex
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Article
DE autism spectrum disorder; DNA methylation; MeCP2; SHANK3
ID POSTSYNAPTIC DENSITY PROTEINS; DNA METHYLATION; RETT-SYNDROME; MUTANT
MICE; AUTISM; GENE; MUTATIONS; EXPRESSION; FAMILY; MECP2
AB SHANK3 is a synaptic scaffolding protein enriched in the post-synaptic density of excitatory synapses. Since several SHANK3 mutations have been identified in a particular phenotypic group of patients with autism spectrum disorder (ASD), SHANK3 is strongly suspected of being involved in the pathogenesis and neuropathology of ASD. Several SHANK3 isoforms are known to be produced in the developing brain, but they have not been fully investigated. Here, we identified two different amino-terminus truncated Shank3 transcripts. One transcript, designated as Shank3c-3, produces an isoform that contains the entire carboxyl-terminus, but the other transcript, designated as Shank3c-4, produces a carboxyl-terminus truncated isoform. During development, expression of the novel Shank3 transcripts increased after birth, transiently decreased at P14 and then gradually increased again thereafter. We also determined that methyl CpG-binding protein 2 (MeCP2) is involved in regulating expression of the novel Shank3 transcripts. MeCP2 is a transcriptional regulator that has been identified as the causative molecule of Rett syndrome, a neurodevelopmental disorder that includes autistic behavior. We demonstrated a difference between the expression of the novel Shank3 transcripts in wild-type mice and Mecp2-deficient mice. These findings suggest that the SHANK3 isoforms may be implicated in the synaptic abnormality in Rett syndrome.
C1 [Waga, Chikako; Asano, Hirotsugu; Sanagi, Tomomi; Suzuki, Eri; Nakamura, Yasuko; Tsuchiya, Akiko; Kohsaka, Shinichi; Uchino, Shigeo] Natl Inst Neurosci, Dept Neurochem, Kodaira, Tokyo 187, Japan.
[Waga, Chikako; Itoh, Masayuki; Goto, Yu-ichi] Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Kodaira, Tokyo 187, Japan.
[Uchino, Shigeo] Teikyo Univ, Sch Sci & Engn, Dept Biosci, Utsunomiya, Tochigi 3208551, Japan.
RP Uchino, S (reprint author), Teikyo Univ, Sch Sci & Engn, Dept Biosci, 1-1 Toyosatodai, Utsunomiya, Tochigi 3208551, Japan.
EM uchino@nasu.bio.teikyo-u.ac.jp
FU Ministry of Health, Labour and Welfare of Japan; Ministry of Education,
Culture, Sports, and Science and Technology of Japan; Japan Foundation
for Pediatric Research
FX This study was supported by grants from the Ministry of Health, Labour
and Welfare of Japan (SU), the Ministry of Education, Culture, Sports,
and Science and Technology of Japan (CW), and The Japan Foundation for
Pediatric Research (SU). The authors have no conflicts of interest to
declare.
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NR 30
TC 2
Z9 3
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 JAN
PY 2014
VL 128
IS 2
BP 280
EP 293
DI 10.1111/jnc.12505
PG 14
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AA3FY
UT WOS:000330979500008
PM 24164323
ER
PT J
AU Parikh, S
Goldstein, A
Koenig, MK
Scaglia, F
Enns, GM
Saneto, R
Anselm, I
Collins, A
Cohen, BH
DeBrosse, SD
Dimmock, D
Falk, MJ
Ganesh, J
Greene, C
Gropman, AL
Haas, R
Kahler, SG
Kamholz, J
Kendall, F
Korson, MS
Mattman, A
Milone, M
Niyazov, D
Pearl, PL
Reimschisel, T
Salvarinova-Zivkovic, R
Sims, K
Tarnopolsky, M
Tsao, CY
van Hove, J
Walsh, L
Wolfe, LA
AF Parikh, Sumit
Goldstein, Amy
Koenig, Mary Kay
Scaglia, Fernando
Enns, Gregory M.
Saneto, Russell
Anselm, Irina
Collins, Abigail
Cohen, Bruce H.
DeBrosse, Suzanne D.
Dimmock, David
Falk, Marni J.
Ganesh, Jaya
Greene, Carol
Gropman, Andrea L.
Haas, Richard
Kahler, Stephen G.
Kamholz, John
Kendall, Fran
Korson, Mark S.
Mattman, Andre
Milone, Margherita
Niyazov, Dmitriy
Pearl, Phillip L.
Reimschisel, Tyler
Salvarinova-Zivkovic, Ramona
Sims, Katherine
Tarnopolsky, Mark
Tsao, Chang-Yong
van Hove, Johan
Walsh, Laurence
Wolfe, Lynne A.
CA Mitochondrial Med Soc Clinical Dir
MMS Clinical Director's Work Grp
TI Practice patterns of mitochondrial disease physicians in North America.
Part 1: Diagnostic and clinical challenges
SO MITOCHONDRION
LA English
DT Article
DE Mitochondrial disease; Mitochondrial medicine; Clinical guidelines
ID POLYACRYLAMIDE-GEL ELECTROPHORESIS; RESPIRATORY-CHAIN DEFICIENCIES;
OXIDATIVE-PHOSPHORYLATION; DISORDERS; CRITERIA; CHILDREN; AUTISM; TOOL;
DNA
AB Mitochondrial medicine is a young subspecialty. Clinicians have a limited evidence base on which to formulate clinical decisions regarding diagnosis, treatment and patient management. Mitochondrial medicine specialists have cobbled together an informal set of rules and paradigms for preventive care and management based in part on anecdotal experience. The Mitochondrial Medicine Society (MMS) assessed the current state of clinical practice from diagnosis, to preventive care and treatment as provided by various mitochondrial disease specialists in North America. We hope that by obtaining this information we can begin moving towards formulating a set of consensus criteria and establishing standards of care. (C) 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
C1 [Anselm, Irina] Boston Childrens Hosp, Boston, MA USA.
[Collins, Abigail] Univ Colorado, Sch Med, Denver, CO USA.
[Cohen, Bruce H.] Childrens Hosp, Med Ctr Akron, NeuroDev Sci Ctr, Akron, OH USA.
[DeBrosse, Suzanne D.] Univ Hosp Case Med Ctr, Ctr Human Genet, Cleveland, OH USA.
[DeBrosse, Suzanne D.] Case Western Reserve Univ, Cleveland, OH 44106 USA.
[Dimmock, David] Med Coll Wisconsin, Dept Pediat, Div Genet, Milwaukee, WI 53226 USA.
[Falk, Marni J.] Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA.
[Falk, Marni J.] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA.
[Ganesh, Jaya] Childrens Hosp Philadelphia, Sect Metab Dis, Philadelphia, PA 19104 USA.
[Greene, Carol] Univ Maryland, Med Ctr, Baltimore, MD 21201 USA.
[Gropman, Andrea L.; Pearl, Phillip L.] Childrens Natl Med Ctr, Dept Neurol, Washington, DC 20010 USA.
[Gropman, Andrea L.] George Washington Univ Hlth Sci, Washington, DC USA.
[Haas, Richard] UCSD Med Ctr, La Jolla, CA USA.
[Haas, Richard] Rady Childrens Hosp San Diego, La Jolla, CA USA.
[Kahler, Stephen G.] Univ Arkansas Med Sci, Dept Pediat, Little Rock, AR 72205 USA.
[Kahler, Stephen G.] Arkansas Childrens Hosp, Little Rock, AR 72202 USA.
[Kamholz, John] Wayne State Univ, Detroit, MI USA.
[Kendall, Fran] Virtual Med Practice LLC, Atlanta, GA USA.
[Korson, Mark S.] Tufts Med Ctr, Boston, MA USA.
[Mattman, Andre] Vancouver Gen Hosp, Adult Metab Dis Clin, Vancouver, BC, Canada.
[Milone, Margherita] Mayo Med Ctr, Rochester, MN USA.
[Niyazov, Dmitriy] Ochsner Clin Fdn, Dept Pediat, New Orleans, IA USA.
[Reimschisel, Tyler] Vanderbilt Univ, Sch Med, Nashville, TN 37212 USA.
[Salvarinova-Zivkovic, Ramona] Univ British Columbia, BC Childrens Hosp, Dept Pediat, Div Biochem Dis, Vancouver, BC V5Z 1M9, Canada.
[Sims, Katherine] Harvard Univ, Sch Med, Boston, MA USA.
[Sims, Katherine] Massachusetts Gen Hosp, Boston, MA 02114 USA.
[Tarnopolsky, Mark] McMaster Univ, Hamilton, ON, Canada.
[Tsao, Chang-Yong] Nationwide Childrens Hosp, Columbus, OH USA.
[van Hove, Johan] Childrens Hosp Colorado, Denver, CO USA.
[Walsh, Laurence] Indiana Univ Sch Med, Indianapolis, IN 46202 USA.
[Walsh, Laurence] James Whitcomb Riley Hosp Children, Indianapolis, IN 46202 USA.
[Wolfe, Lynne A.] NIH, Bethesda, MD 20892 USA.
[Parikh, Sumit] Cleveland Clin, Childrens Hosp, Ctr Child Neurol, Cleveland, OH 44195 USA.
[Goldstein, Amy] Childrens Hosp Pittsburgh, Div Child Neurol, Pittsburgh, PA 15213 USA.
[Koenig, Mary Kay] Univ Texas Houston, Sch Med, Div Child & Adolescent Neurol, Houston, TX USA.
[Scaglia, Fernando] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
[Scaglia, Fernando] Texas Childrens Hosp, Houston, TX 77030 USA.
[Enns, Gregory M.] Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Palo Alto, CA 94304 USA.
[Saneto, Russell] Univ Washington, Seattle Childrens Hosp, Seattle, WA 98195 USA.
RP Parikh, S (reprint author), Cleveland Clin, 9500 Euclid Ave,S60, Cleveland, OH 44195 USA.
EM parikhs@ccf.org
RI Falk, Marni/K-1997-2014
CR Bernier FP, 2002, NEUROLOGY, V59, P1406
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NR 21
TC 2
Z9 2
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1567-7249
EI 1872-8278
J9 MITOCHONDRION
JI Mitochondrion
PD JAN
PY 2014
VL 14
BP 26
EP 33
DI 10.1016/j.mito.2013.07.116
PG 8
WC Cell Biology; Genetics & Heredity
SC Cell Biology; Genetics & Heredity
GA AA2GD
UT WOS:000330912200004
PM 23891656
ER
PT J
AU Papoulidis, I
Oikonomidou, E
Orru, S
Siomou, E
Kontodiou, M
Eleftheriades, M
Bacoulas, V
Cigudosa, JC
Suela, J
Thomaidis, L
Manolakos, E
AF Papoulidis, Ioannis
Oikonomidou, Eirini
Orru, Sandro
Siomou, Elisavet
Kontodiou, Maria
Eleftheriades, Makarios
Bacoulas, Vasilios
Cigudosa, Juan C.
Suela, Javier
Thomaidis, Loretta
Manolakos, Emmanouil
TI Prenatal detection of TAR syndrome in a fetus with compound inheritance
of an RBM8A SNP and a 334-kb deletion: A case report
SO MOLECULAR MEDICINE REPORTS
LA English
DT Article
DE thrombocytopenia-absent radius syndrome; deletion; genetic disorder;
array-comparative genomic hybridization; phenotype; prenatal
ID THROMBOCYTOPENIA
AB Thrombocytopenia-absent radius syndrome (TAR) is a rare genetic disorder that is characterized by the absence of the radius bone in each forearm and a markedly reduced platelet count that results in life-threatening bleeding episodes (thrombocytopenia). Tar syndrome has been associated with a deletion of a segment of 1q21.1 cytoband. The 1q21.1 deletion syndrome phenotype includes Tar and other features such as mental retardation, autism and microcephaly. This study describes a case of a prenatally diagnosed fetus with compound inheritance of a small (334 kb) deletion, as detected by array-comparative genomic hybridization, and a 5 untranslated region (UTR) low-frequency allele (rs139428292) in gene RBM8A as detected by Sanger sequencing. The study describes the first case of prenatal analysis of TAR syndrome in a fetus with compound inheritance of a 334-kb deletion in the 1q21.1 region and a low-frequency 5 UTR single nucleotide polymorphism, and provides confirmation of the causal nature of the RBM8A gene in the diagnosis of TAR syndrome.
C1 [Papoulidis, Ioannis; Oikonomidou, Eirini; Siomou, Elisavet; Kontodiou, Maria; Manolakos, Emmanouil] Eurogenetica SA, Genet Lab, Thessaloniki 55133, Greece.
[Orru, Sandro; Manolakos, Emmanouil] Univ Cagliari, Binaghi Hosp, Dept Med Genet, I-09126 Cagliari, Italy.
[Eleftheriades, Makarios] Embryocare, Fetal Med Unit, Athens 11522, Greece.
[Bacoulas, Vasilios] Fetal Med Ctr, Athens 10674, Greece.
[Cigudosa, Juan C.; Suela, Javier] NIMGenetics, Madrid 28049, Spain.
[Thomaidis, Loretta] Univ Athens, Aglaia Kyriakou Childrens Hosp, Dept Pediat, Athens 11527, Greece.
RP Papoulidis, I (reprint author), Eurogenetica SA, Genet Lab, 7 Adrianopoulou Str, Thessaloniki 55133, Greece.
EM papoulidis@eurogenetica.gr
CR Albers CA, 2012, NAT GENET, V44, P435, DOI 10.1038/ng.1083
D'haene B, 2010, METHODS, V50, P262, DOI 10.1016/j.ymeth.2009.12.007
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NR 9
TC 0
Z9 0
PU SPANDIDOS PUBL LTD
PI ATHENS
PA POB 18179, ATHENS, 116 10, GREECE
SN 1791-2997
EI 1791-3004
J9 MOL MED REP
JI Mol. Med. Rep.
PD JAN
PY 2014
VL 9
IS 1
BP 163
EP 165
DI 10.3892/mmr.2013.1788
PG 3
WC Oncology; Medicine, Research & Experimental
SC Oncology; Research & Experimental Medicine
GA AA0KJ
UT WOS:000330783700026
PM 24220582
ER
PT J
AU Dudova, I
Kasparova, M
Markova, D
Zemankova, J
Beranova, S
Urbanek, T
Hrdlicka, M
AF Dudova, Iva
Kasparova, Martina
Markova, Daniela
Zemankova, Jana
Beranova, Stepanka
Urbanek, Tomas
Hrdlicka, Michal
TI Screening for autism in preterm children with extremely low and very low
birth weight
SO NEUROPSYCHIATRIC DISEASE AND TREATMENT
LA English
DT Article
DE autism spectrum disorder; preterm children; screening; Autism Diagnostic
Observation Schedule; prevalence
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; MODIFIED
CHECKLIST; INFANTS; TODDLERS; AGE; PREVALENCE; SYMPTOMS; GENETICS; RISK
AB Background: Studies of children with very low birth weight (VLBW, 1,000-1,500 g) and extremely low birth weight (ELBW, less than 1,000 g) indicate that this population seems to be at increased risk of autism spectrum disorder (ASD).
Methods: Parents of 101 VLBW and ELBW children (age 2 years, corrected for prematurity) agreed to participate in the study and signed informed consents; however, parents of only 75 children (44 boys, 31 girls) completed the screening questionnaires. The screening battery included the Modified Checklist for Autism in Toddlers (M-CHAT), Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist (CSBS-DP-ITC), and the Infant/Toddler Sensory Profile (ITSP). Children with disabilities were excluded. All children who screened positive on any of the screening tools were subsequently invited for a detailed assessment.
Results: Thirty-two children (42.7%) screened positive on at least one of the screening questionnaires. The screening tool with the most positive results was the CSBS-DP-ITC (26 positive screens), followed by the M-CHAT (19 positive screens) and the ITSP (11 positive screens). Of the 32 children who tested positive, 19 participated in the detailed follow-up assessment. A diagnosis of ASD was confirmed in eight of the 19 children. ASD prevalence, calculated from those 19 children and those with negative screening results (43 children), yielded a prevalence of 12.9% in the sample. The difference in frequency of positive screens between the tests was significant (P=0.011). In pair comparisons, ITSP was found to be significantly less positive than CSBS-DP-ITC (P=0.032). No significant differences were found between the M-CHAT and CSBS-DP-ITC or between the M-CHAT and ITSP.
Conclusion: The results strongly support the hypothesis of an increased prevalence of autism in children with a birth weight less than 1,500 g.
C1 [Dudova, Iva; Beranova, Stepanka; Hrdlicka, Michal] Charles Univ Prague, Fac Med 2, Dept Child Psychiat, Prague 15006, Czech Republic.
[Dudova, Iva; Kasparova, Martina; Beranova, Stepanka; Hrdlicka, Michal] Univ Hosp Motol, Prague, Czech Republic.
[Kasparova, Martina] Charles Univ Prague, Fac Med 2, Dept Pediat, Prague 15006, Czech Republic.
[Markova, Daniela] Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Prague 15006, Czech Republic.
[Markova, Daniela] Gen Univ Hosp, Prague, Czech Republic.
[Zemankova, Jana] Charles Univ Prague, Fac Med, Dept Pediat, Kralove, Czech Republic.
[Zemankova, Jana] Univ Hosp, Kralove, Czech Republic.
[Urbanek, Tomas] Acad Sci Czech Republic, Inst Psychol, Brno, Czech Republic.
RP Dudova, I (reprint author), Charles Univ Prague, Univ Hosp Motol, Fac Med 2, Dept Child Psychiat, V Uvalu 84, Prague 15006, Czech Republic.
EM iva.dudova@lfmotol.cuni.cz
RI Urbanek, Tomas/G-9427-2014
OI Urbanek, Tomas/0000-0002-8807-4869
FU Ministry of Education, Youth and Sports, Czech Republic [COST LD11028];
Ministry of Health, Czech Republic (conceptual development of research
organization, University Hospital Motol, Prague, Czech Republic)
[00064203]; ESF (COST Action) [ESSEA BM1004]
FX This study was supported by the Ministry of Education, Youth and Sports,
Czech Republic (research grant COST LD11028), the Ministry of Health,
Czech Republic (conceptual development of research organization,
University Hospital Motol, Prague, Czech Republic 00064203), and by the
ESF (COST Action ESSEA BM1004). The authors would like to thank Thomas
Secrest for his assistance with the English version of the manuscript.
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NR 31
TC 1
Z9 1
PU DOVE MEDICAL PRESS LTD
PI ALBANY
PA PO BOX 300-008, ALBANY, AUCKLAND 0752, NEW ZEALAND
SN 1176-6328
EI 1178-2021
J9 NEUROPSYCH DIS TREAT
JI Neuropsychiatr. Dis. Treat.
PY 2014
VL 10
BP 277
EP 282
DI 10.2147/NDT.S57057
PG 6
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AA4QC
UT WOS:000331079900001
PM 24627633
ER
PT J
AU Bersten, DC
Wright, JA
McCarthy, PJ
Whitelaw, ML
AF Bersten, David C.
Wright, Josephine A.
McCarthy, Peter J.
Whitelaw, Murray L.
TI Regulation of the neuronal transcription factor NPAS4 by REST and
microRNAs
SO BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS
LA English
DT Article
DE Gene regulation; NPAS4; REST; microRNA; Transcription factor
ID RESTRICTIVE SILENCER ELEMENT; AUTISM SPECTRUM DISORDER; GABA(A) RECEPTOR
SUBUNIT; GENE-EXPRESSION; HEPATOCELLULAR-CARCINOMA; SYNAPSE DEVELOPMENT;
HUMAN GENOME; PROTEIN; CHROMATIN; PAS
AB NPAS4 is a brain restricted, activity-induced transcription factor which regulates the expression of inhibitory synapse genes to control homeostatic excitatory/inhibitory balance in neurons. NPAS4 is required for normal social interaction and contextual memory formation in mice. Protein and mRNA expression of NPAS4 is tightly coupled to neuronal depolarization and most prevalent in the cortical and hippocampal regions in the brain, however the precise mechanisms by which the NPAS4 gene is controlled remain unexplored. Here we show that expression of NPAS4 mRNA is actively repressed by RE-1 silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) in embryonic stem cells and non-neuronal cells by binding multiple sites within the promoter and Intron I of NPAS4. Repression by REST also appears to correlate with the binding of the zinc finger DNA binding protein CTCF within Intron I of NPAS4. In addition, we show that the 3' untranslated region (3' UTR) of NPAS4 can be targeted by two microRNAs, miR-203 and miR-224 to further regulate its expression. miR-224 is a midbrain/hypothalamus enriched microRNA which is expressed from an intron within the GABAA receptor epsilon (GABRE) gene and may further regionalize NPAS4 expression. Our results reveal REST and microRNA dependent mechanisms that restrict NPAS4 expression to the brain. Crown Copyright (C) 2013 Published by Elsevier B.V. All rights reserved.
C1 Univ Adelaide, Council Special Res, Ctr Mol Genet Dev, Sch Mol & Biomed Sci Biochem, Adelaide, SA 5005, Australia.
Univ Adelaide, Council Special Res, Ctr Mol Genet Dev, Australian Res, Adelaide, SA 5005, Australia.
RP Bersten, DC (reprint author), Univ Adelaide, Sch Mol & Biomed Sci Biochem, Adelaide, SA 5005, Australia.
EM david.bersten@adelaide.edu.au
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NR 61
TC 3
Z9 3
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 1874-9399
EI 0006-3002
J9 BBA-GENE REGUL MECH
JI Biochim. Biophys. Acta-Gene Regul. Mech.
PD JAN
PY 2014
VL 1839
IS 1
BP 13
EP 24
DI 10.1016/j.bbagrm.2013.11.004
PG 12
WC Biochemistry & Molecular Biology; Biophysics
SC Biochemistry & Molecular Biology; Biophysics
GA 303OH
UT WOS:000330683300002
PM 24291638
ER
PT J
AU Santini, AC
Pierantoni, GM
Gerlini, R
Iorio, R
Olabinjo, Y
Giovane, A
Di Domenico, M
Sogos, C
AF Santini, Annamaria Chiara
Pierantoni, Giovanna Maria
Gerlini, Raffaele
Iorio, Rosamaria
Olabinjo, Yinka
Giovane, Alfonso
Di Domenico, Marina
Sogos, Carla
TI Glix 13, a New Drug Acting on Glutamatergic Pathways in Children and
Animal Models of Autism Spectrum Disorders
SO BIOMED RESEARCH INTERNATIONAL
LA English
DT Review
ID INBRED MOUSE STRAINS; SITE PARTIAL AGONIST; NMDA RECEPTOR; ULTRASONIC
VOCALIZATIONS; MONOCLONAL-ANTIBODY; SERINE RACEMASE; SOCIAL APPROACH;
BEHAVIOR; GLYX-13; MICE
AB Recently standardized diagnostic instruments have been developed in diagnostic and therapeutic procedures for Autism Spectrumv Disorders (ASD). According to the DSM-5 criteria, individuals with ASD must show symptoms from early childhood. These symptoms are communication deficits and restricted, repetitive patterns of behaviour. It was recently described by Bioinformatic analysis that 99 modified genes were associated with human autism. Gene expression patterns in the low-line animals show significant enrichment in autism-associated genes and the NMDA receptor gene family was identified among these. Using ultrasonic vocalizations, it was demonstrated that genetic variation has a direct impact on the expression of social interactions. It has been proposed that specific alleles interact with a social reward process in the adolescent mouse modifying their social interaction and their approach toward each other. In this review we report that the monoclonal antibody-derived tetrapeptide GLYX-13 was found to act as an N-methyl-D-aspartate receptor modulator and possesses the ability to readily cross the blood brain barrier. Treatment with the NMDAR glycine site partial agonist GLYX-13 rescued the deficit in the animal model. Thus, the NMDA receptor has been shown to play a functional role in autism, and GLYX-13 shows promise for the treatment of autism in autistic children.
C1 [Santini, Annamaria Chiara; Sogos, Carla] Univ Roma La Sapienza, Dipartimento Pediat & Neuropsichiatria Infantile, I-00185 Rome, Italy.
[Pierantoni, Giovanna Maria; Gerlini, Raffaele] Univ Naples Federico II, Dipartimento Med Mol & Biotecnol Med, I-80131 Naples, Italy.
[Iorio, Rosamaria; Giovane, Alfonso; Di Domenico, Marina] Univ Naples 2, Dipartimento Biochim Biofis & Patol Gen, I-80138 Naples, Italy.
[Olabinjo, Yinka] Univ Siena, Policlin Santa Maria Alle Scotte, Dipartimento Med Chirurg & Neurosci, I-53100 Siena, Italy.
RP Santini, AC (reprint author), Univ Roma La Sapienza, Dipartimento Pediat & Neuropsichiatria Infantile, Via Sabelli 108, I-00185 Rome, Italy.
EM chiara1290@hotmail.it; carla.sogos@uniroma1.it
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NR 42
TC 1
Z9 1
PU HINDAWI PUBLISHING CORPORATION
PI NEW YORK
PA 410 PARK AVENUE, 15TH FLOOR, #287 PMB, NEW YORK, NY 10022 USA
SN 2314-6133
EI 2314-6141
J9 BIOMED RES INT
JI Biomed Res. Int.
PY 2014
AR 234295
DI 10.1155/2014/234295
PG 5
WC Biotechnology & Applied Microbiology; Medicine, Research & Experimental
SC Biotechnology & Applied Microbiology; Research & Experimental Medicine
GA AA1LJ
UT WOS:000330857400001
ER
PT J
AU King, A
AF King, Anthony
TI Metabonomics Probiotics for autism?
SO CHEMISTRY & INDUSTRY
LA English
DT News Item
NR 0
TC 0
Z9 0
PU WILEY PERIODICALS, INC
PI SAN FRANCISCO
PA ONE MONTGOMERY ST, SUITE 1200, SAN FRANCISCO, CA 94104 USA
SN 0009-3068
EI 2047-6329
J9 CHEM IND-LONDON
JI Chem. Ind.
PD JAN
PY 2014
VL 78
IS 1
BP 10
EP 10
PG 1
WC Chemistry, Applied
SC Chemistry
GA 304IE
UT WOS:000330739500010
ER
PT J
AU Harony-Nicolas, H
Mamrut, S
Brodsky, L
Shahar-Gold, H
Barki-Harrington, L
Wagner, S
AF Harony-Nicolas, Hala
Mamrut, Shimrat
Brodsky, Leonid
Shahar-Gold, Hadar
Barki-Harrington, Liza
Wagner, Shlomo
TI Brain region-specific methylation in the promoter of the murine oxytocin
receptor gene is involved in its expression regulation
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Article
DE Oxytocin receptor; DNA methylation; Epigenetics; Bioinformatics;
Transcription regulation; Brain
ID AUTISM SPECTRUM DISORDERS; DNA METHYLATION; SOCIAL-ORGANIZATION; CENTRAL
VASOPRESSIN; POLYGAMOUS VOLES; DYNAMIC CHANGES; BINDING-SITES;
RAT-BRAIN; BEHAVIOR; MICE
AB Oxytocin is a nine amino acid neuropeptide that is known to play a critical role in fetal expulsion and breast-feeding, and has been recently implicated in mammalian social behavior. The actions of both central and peripheral oxytocin are mediated through the oxytocin receptor (Oxtr), which is encoded by a single gene. In contrast to the highly conserved expression of oxytocin in specific hypothalamic nuclei, the expression of its receptor in the brain is highly diverse among different mammalian species or even within individuals of the same species. The diversity in the pattern of brain Oxtr expression among mammals is thought to contribute to the broad range of social systems and organizations. Yet, the mechanisms underlying this diversity are poorly understood. DNA methylation is a major epigenetic mechanism that regulates gene transcription, and has been linked to reduced expression levels of the Oxtr in individuals with autism. Here we hypothesize that DNA methylation is involved in the expression regulation of Oxtr in the mouse brain. By combining bisulfite DNA conversion and Next-Generation Sequencing we found that specific CpG sites are differentially methylated between distinct brain regions expressing different levels of Oxtr mRNA. Some of these CpG sites are located within putative binding sites of transcription factors known to regulate Oxtr expression, including estrogen receptor a (ERa) and SP1. Specifically, methylation of the SP1 site was found to positively correlate with Oxtr expression. Furthermore, we revealed that the methylation levels of these sites in the various brain regions predict the relationship between ERce and Oxtr mRNA levels. Collectively, our results suggest that brain region-specific expression of the mouse Oxtr gene is epigenetically regulated by DNA methylation of its promoter. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Harony-Nicolas, Hala; Mamrut, Shimrat; Shahar-Gold, Hadar; Wagner, Shlomo] Univ Haifa, Fac Nat Sci, Dept Neurobiol, IL-31905 Haifa, Israel.
[Brodsky, Leonid] Univ Haifa, Fac Nat Sci, Tauber Bioinformat Res Ctr, IL-31905 Haifa, Israel.
[Brodsky, Leonid] Univ Haifa, Fac Nat Sci, Dept Evolutionary & Environm Biol, IL-31905 Haifa, Israel.
[Barki-Harrington, Liza] Univ Haifa, Fac Nat Sci, Dept Human Biol, IL-31905 Haifa, Israel.
RP Wagner, S (reprint author), Univ Haifa, Fac Nat Sci, Dept Neurobiol, IL-31905 Haifa, Israel.
EM shlomow@research.haifa.ac.il
FU Legacy Heritage Bio-Medical Program of the Israel Science Foundation
[1901/08]; Autism Speaks Foundation [3613]
FX This research was supported by the Legacy Heritage Bio-Medical Program
of the Israel Science Foundation (grant #1901/08 to SW and LBH) and by
the Autism Speaks Foundation (grant #3613 to SW).
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NR 48
TC 3
Z9 3
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 JAN
PY 2014
VL 39
BP 121
EP 131
DI 10.1016/j.psyneuen.2013.10.004
PG 11
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AA0WM
UT WOS:000330818100013
PM 24275011
ER
PT J
AU Gould, GG
Burke, TF
Osorio, MD
Smolik, CM
Zhang, WQ
Onaivi, ES
Gu, TT
DeSilva, MN
Hensler, JG
AF Gould, Georgianna G.
Burke, Teresa F.
Osorio, Miguel D.
Smolik, Corey M.
Zhang, Wynne Q.
Onaivi, Emmanuel S.
Gu, Ting-Ting
DeSilva, Mauris N.
Hensler, Julie G.
TI Enhanced novelty-induced corticosterone spike and upregulated serotonin
5-HT1A and cannabinoid CB1 receptors in adolescent BTBR mice
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Article
DE 129S1/SvImJ; Adolescent; BTBR; C57BL; Cannabinoid; GTP gamma 5
autoradiography; Hippocampus; HPA feedback; Serotonin; Social behavior
ID CONTEXTUAL FEAR MEMORY; PLUS TF/J MOUSE; ENDOCANNABINOID SYSTEM; STRESS
REACTIVITY; SOCIAL-BEHAVIOR; IN-VIVO; AUTISM; GLUCOCORTICOIDS;
EXPRESSION; PHENOTYPES
AB Hypothalamic pituitary adrenal (HPA) axis responses to change and social challenges during adolescence can influence mental health and behavior into adulthood. To examine how HPA tone in adolescence may contribute to psychopathology, we challenged mate adolescent (5 weeks) and adult (16 weeks) BTBR rtf/J (BTBR) and 12951 /SvImJ (129S) mice with novelty in sociability tests. In prior studies these strains had exaggerated or altered HPA stress responses and low sociability relative to C57BL/6J mice in adulthood. In adolescence these strains already exhibited similar or worse sociability deficits than adults or age-matched C57 mice. Yet BTBR adolescents were less hyperactive and buried fewer marbles than adults. Novelty-induced corticosterone (CORT) spikes in adolescent BTBR were double adult levels, and higher than 129S or C57 mice at either age. Due to their established role in HPA feedback, we hypothesized that hippbcampal Gail o-coupled serotonin 5-HTiA and cannabioid CI31 receptor function might be upregulated in BTBR mice. Adolescent BTBR mice had higher hippocampal 5-HTIA density as measured by [H-3] 8hydroxy-2-(di-n-propylamino) tetralin (8-0H-DPAT) binding than C57 mice, and adult BTBR 8-0HDPAT-stimulated GTP-yS binding was higher than in either C57 or 1295 mice in this region. Further, BTBR hippocampal CB1 density measured by [H-3]CP55,940 binding was 15-20% higher than in C57. CP55, 940-stimulated GTP-yS binding in adult BTBR dentate gyrus was 30% higher then 129S (p < 0.05), but was not a product of greater neuronal or cell density defined by NeuN and DAPI staining. Hence hyperactive HPA responsiveness during adolescence may underlie 5-HT1A and CB1 receptor up-regulation and behavioral phenotype of BTBR mice. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Gould, Georgianna G.; Smolik, Corey M.; Zhang, Wynne Q.; Gu, Ting-Ting] Univ Texas Hlth Sci Ctr San Antonio, Dept Physiol, San Antonio, TX 78229 USA.
[Gould, Georgianna G.; Burke, Teresa F.; Smolik, Corey M.; Zhang, Wynne Q.; Gu, Ting-Ting; Hensler, Julie G.] Univ Texas Hlth Sci Ctr San Antonio, Ctr Biomed Neurosci, San Antonio, TX 78229 USA.
[Burke, Teresa F.; Hensler, Julie G.] Univ Texas Hlth Sci Ctr San Antonio, Dept Pharmacol, San Antonio, TX 78229 USA.
[Osorio, Miguel D.] Univ Texas Hlth Sci Ctr San Antonio, Sch Med, San Antonio, TX 78229 USA.
[Onaivi, Emmanuel S.] William Paterson Univ, Dept Biol, Wayne, NJ 07470 USA.
[DeSilva, Mauris N.] Univ Texas San Antonio, Dept Biomed Engn, San Antonio, TX 78249 USA.
RP Gould, GG (reprint author), Univ Texas Hlth Sci Ctr San Antonio, Dept Physiol, MS 7756, San Antonio, TX 78229 USA.
EM gouldg@uthscsa.edu
FU San Antonio Area Foundation; Morrison Trust; NIH [MH086708, MH52369,
MH071488, DA032890]; UTHSCSA R25 START UPs program [R25GM097632]; IIMS
CTSA grant [UL1RR025767]; William Paterson University
FX This research was supported by the San Antonio Area Foundation, the
Morrison Trust, NIH MH086708 (GGG), MH52369 (JGH) and MH071488 (JGH),
DA032890 (ESO), the UTHSCSA R25 START UPs program (R25GM097632) and IIMS
CTSA grant (UL1RR025767) and by funds from Dr. Sandra De Young, Dean of
Science and Health at William Paterson University. The authors thank Dr.
Lynette C. Daws, Department of Physiology, UTHSCSA for use of her
laboratory resources, the UT Medical School Summer Research Program,
Catherine Gonzalez of Health Careers High School, and Norman Schanz and
Dr. Robert Benno for their administrative and technical assistance.
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NR 51
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 JAN
PY 2014
VL 39
BP 158
EP 169
DI 10.1016/j.psyneuen.2013.09.003
PG 12
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AA0WM
UT WOS:000330818100017
PM 24126181
ER
PT J
AU Rilling, JK
DeMarco, AC
Hackett, PD
Chen, X
Gautam, P
Stair, S
Haroon, E
Thompson, R
Ditzen, B
Patel, R
Pagnoni, G
AF Rilling, James K.
DeMarco, Ashley C.
Hackett, Patrick D.
Chen, Xu
Gautam, Pritam
Stair, Sabrina
Haroon, Ebrahim
Thompson, Richmond
Ditzen, Beate
Patel, Rajan
Pagnoni, Giuseppe
TI Sex differences in the neural and behavioral response to intranasal
oxytocin and vasopressin during human social interaction
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Article
DE Oxytocin; Vasopressin; fMRI; Cooperation; Sex differences
ID AUTISM SPECTRUM DISORDERS; HUMAN BRAIN; MATERNAL-BEHAVIOR;
BINDING-SITES; COOPERATION; INCREASES; EVOLUTION; RAT; COMMUNICATION;
RECOGNITION
AB Both oxytocin (OT) and vasopressin (AVP) are known to modulate social behavior, and dysfunction in both systems has been postulated as a potential cause of certain psychiatric disorders that involve social behavioral deficits. In particular, there is growing interest in intranasal OT as a potential treatment for certain psychiatric disorders, and preliminary preclinical and clinical studies suggest efficacy in alleviating some of the associated symptoms. However, the vast majority of research participants in these studies have been male, and there is evidence for sexually differentiated effects of nonapeptides in both humans and non-human animals. To date, no study has investigated the effect of intranasal OT on brain function in human males and females within the same paradigm. Previously, in a randomized, placebo-controlled, double-blind fMRI study, we reported effects of intranasal OT and AVP on behavior and brain activity of human males as they played an interactive social game known as the Prisoner's Dilemma Game. Here, we present findings from an identical study in human females, and compare these with our findings from males. Overall, we find that both behavioral and neural responses to intranasal OT and AVP are highly sexually differentiated. In women; AVP increased conciliatory behavior, and both OT and AVP caused women to treat computer partners more like humans. In men, AVP increased reciprocation of cooperation from both human and computer partners. However, no specific drug effects on behavior were shared between men and women. During cooperative interactions, both OT and AVP increased brain activity in men within areas rich in OT and AVP receptors and in areas playing a key role in reward, social bonding, arousal and memory (e.g., the striatum, basal forebrain, insula, amygdala and hippocampus), whereas OT and AVP either had no effect or in some cases actually decreased brain activity in these regions in women. OT treatment rendered neural responses of males more similar to responses of females in the placebo group and vice versa, raising the prospect of an inverted u-shaped dose response to central OT levels. These findings emphasize the need to fully characterize the effects of intranasal OT and AVP in both males and females and at multiple doses before widespread clinical application will be warranted. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Rilling, James K.; Hackett, Patrick D.; Chen, Xu; Gautam, Pritam] Emory Univ, Dept Anthropol, Atlanta, GA 30322 USA.
[Rilling, James K.; Chen, Xu; Stair, Sabrina; Haroon, Ebrahim; Ditzen, Beate] Emory Univ, Dept Psychiat & Behav Sci, Atlanta, GA 30322 USA.
[Rilling, James K.; Ditzen, Beate] Emory Univ, Ctr Behav Neurosci, Atlanta, GA 30322 USA.
[Rilling, James K.] Emory Univ, Yerkes Natl Primate Res Ctr, Atlanta, GA 30322 USA.
[Rilling, James K.] Emory Univ, Ctr Translat Social Neurosci, Atlanta, GA 30322 USA.
[DeMarco, Ashley C.] Univ Kansas, Dept Psychol, Lawrence, KS 66045 USA.
[Thompson, Richmond] Bowdoin Coll, Dept Psychol, Brunswick, ME 04011 USA.
[Ditzen, Beate] Univ Zurich, Dept Psychol, CH-8006 Zurich, Switzerland.
[Patel, Rajan] Emory Univ, Dept Biostat, Atlanta, GA 30322 USA.
[Pagnoni, Giuseppe] Univ Modena & Reggio Emilia, Dept Neural Biomed & Metab Sci, Modena, Italy.
RP Rilling, JK (reprint author), Emory Univ, Dept Psychiat & Behav Sci, Dept Anthropol, 1557 Dickey Dr, Atlanta, GA 30322 USA.
EM jrillin@emory.edu
RI Chen, Xu/J-4650-2013; Pagnoni, Giuseppe/F-3398-2015
OI Pagnoni, Giuseppe/0000-0002-8272-8091
FU NIMH Grant [R01 MH084068-01A1]; PHS Grant from the Clinical and
Translational Science Award program [UL1 RR025008]; National Institutes
of Health; National Center for Research Resources; Yerkes National
Primate Research Center Base Grant [2P51RR000165-51]
FX Supported by NIMH Grant R01 MH084068-01A1 and PHS Grant UL1 RR025008
from the Clinical and Translational Science Award program, National
Institutes of Health, National Center for Research Resources. Assay
services were provided by the Biomarkers Core Laboratory at the Yerkes
National Primate Research Center. This facility is supported by the
Yerkes National Primate Research Center Base Grant 2P51RR000165-51.
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NR 53
TC 18
Z9 18
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 JAN
PY 2014
VL 39
BP 237
EP 248
DI 10.1016/j.psyneuen.2013.09.022
PG 12
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AA0WM
UT WOS:000330818100025
PM 24157401
ER
PT J
AU Chang, SC
Glymour, MM
Rewak, M
Cornelis, MC
Walter, S
Koenen, KC
Kawachi, I
Liang, LM
Tchetgen, EJT
Kubzansky, LD
AF Chang, Shun-Chiao
Glymour, M. Maria
Rewak, Marissa
Cornelis, Marilyn C.
Walter, Stefan
Koenen, Karestan C.
Kawachi, Ichiro
Liang, Liming
Tchetgen, Eric J. Tchetgen
Kubzansky, Laura D.
TI Are genetic variations in OXTR, AVPR1A, and CD38 genes important to
social integration? Results from two large US cohorts
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Article
DE OXTR; CD38; AVPR1A; Social integration; Sex-specific; Candidate gene
ID OXYTOCIN RECEPTOR GENE; AUTISM SPECTRUM DISORDER; POLYMORPHISM OXTR;
NURSES HEALTH; VASOPRESSIN; ASSOCIATION; MORTALITY; BEHAVIOR;
ATTACHMENT; SUPPORT
AB Some evidence suggests that genetic polymorphisms in oxytocin pathway genes influence various social behaviors, but findings thus far have been mixed. Many studies have been based in small samples and there is possibility of publication bias. Using data from 2 large U.S. prospective cohorts with over 11,000 individuals, we investigated 88 SNPs in OXTR, AVPR1A, and CD38, in relation to social integration (measured as social connectedness in both binary and continuous forms and being continuously married). After correction for multiple testing only one SNP in CD38 (rs12644506) was significantly associated with social integration and that SNP predicted when using a dichotomized indicator of social connectedness (adjusted p = 0.02), but not a continuous measure of social connectedness or the continuously married outcome. A significant gender-heterogeneous effect was identified in one OXTR SNP on dichotomized social connectedness; specifically, rs4686302 T allele was nominally associated with social connectedness in men, whereas the association direction was opposite in women (adjusted gender heterogeneity p = 0.02). Furthermore, the rs53576 A allele was significantly associated with social connectedness only in women, and the effect magnitude was stronger in a dominant genetic model (adjusted p = 0.003). In summary, our findings suggested that common genetic variants of OXTR, CD38, and AVPR1A are not associated with social integration as measured in this study using the simplified Berkman-Syme Social Network Index, but these findings and other work hint that effects may be modified by gender or other social experiences. Further work considering genetic pathways in relation to social integration may be more fruitful if these additional factors can be more comprehensively evaluated. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Chang, Shun-Chiao; Glymour, M. Maria; Rewak, Marissa; Walter, Stefan; Kawachi, Ichiro; Kubzansky, Laura D.] Harvard Univ, Sch Publ Hlth, Dept Social & Behav Sci, Boston, MA 02115 USA.
[Glymour, M. Maria] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA.
[Cornelis, Marilyn C.] Harvard Univ, Sch Publ Hlth, Dept Nutr, Boston, MA 02115 USA.
[Koenen, Karestan C.] Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY USA.
[Liang, Liming; Tchetgen, Eric J. Tchetgen] Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA.
RP Chang, SC (reprint author), Harvard Univ, Sch Publ Hlth, Dept Social & Behav Sci, 677 Huntington Ave, Boston, MA 02115 USA.
EM scchang@hsph.harvard.edu
FU NIH/NIMH [MH092707-01]
FX The study is supported by NIH/NIMH (MH092707-01). The sponsor has no
involvement in study design, data collection, analysis, interpretation
of data, writing of the report, and decision to submit the paper for
submission.
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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 JAN
PY 2014
VL 39
BP 257
EP 268
DI 10.1016/j.psyneuen.2013.09.024
PG 12
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AA0WM
UT WOS:000330818100027
PM 24209975
ER
PT J
AU Catala-Lopez, F
Suarez-Pinilla, M
Suarez-Pinilla, P
Valderas, JM
Gomez-Beneyto, M
Martinez, S
Balanza-Martinez, V
Climent, J
Valencia, A
McGrath, J
Crespo-Facorro, B
Sanchez-Moreno, J
Vieta, E
Tabares-Seisdedos, R
AF Catala-Lopez, Ferran
Suarez-Pinilla, Marta
Suarez-Pinilla, Paula
Valderas, Jose Maria
Gomez-Beneyto, Manuel
Martinez, Salvador
Balanza-Martinez, Vicent
Climent, Joan
Valencia, Alfonso
McGrath, John
Crespo-Facorro, Benedicto
Sanchez-Moreno, Jose
Vieta, Eduard
Tabares-Seisdedos, Rafael
TI Inverse and Direct Cancer Comorbidity in People with Central Nervous
System Disorders: A Meta-Analysis of Cancer Incidence in 577,013
Participants of 50 Observational Studies
SO PSYCHOTHERAPY AND PSYCHOSOMATICS
LA English
DT Article
DE Comorbidity; Multimorbidity; Cancer; Central nervous system disorders;
Alzheimer's disease; Amyotrophic lateral sclerosis; Autism spectrum
disorders; Down's syndrome; Huntington's disease; Multiple sclerosis;
Parkinson's disease; Schizophrenia
ID POPULATION-BASED COHORT; SERIOUS MENTAL-ILLNESS; PARKINSONS-DISEASE;
MULTIPLE-SCLEROSIS; DOWNS-SYNDROME; RECORD LINKAGE; BREAST-CANCER;
GLOBAL BURDEN; SCHIZOPHRENIC-PATIENTS; 1ST-DEGREE RELATIVES
AB Background: There is a lack of scientific consensus about cancer comorbidity in people with central nervous system (CNS) disorders. This study assesses the co-occurrence of cancers in patients with CNS disorders, including Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), autism spectrum disorders, Down's syndrome (DS), Huntington's disease (HD), multiple sclerosis (MS), Parkinson's disease (PD) and schizophrenia (SCZ). Method: Comprehensive search in PubMed/MEDLINE, Scopus and ISI Web of Knowledge of the literature published before March 2013. We identified 51 relevant articles from 2,229 discrete references, 50 of which contained data suitable for quantitative synthesis (577,013 participants). Pooled effect sizes (ES) were calculated using multiple random-effects meta-analyses. Sources of heterogeneity and uncertainty were explored by means of subgroup and sensitivity analyses, respectively. Results: The presence of CNS disorders was associated with a reduced co-occurrence of cancer (ES = 0.92; 95% confidence interval, CI: 0.87-0.98; I-2 = 94.5%). A consistently lower overall co-occurrence of cancer was detected in patients with neurodegenerative disorders (ES = 0.80; 95% CI: 0.75-0.86; I-2 = 82.8%), and in those with AD (ES = 0.32; 95% CI: 0.22-0.46; I-2 = 0.0%), PD (ES = 0.83; 95% CI: 0.76-0.91; I-2 = 80.0%), MS (ES = 0.91; 95% CI: 0.87-0.95; I-2 = 30.3%) and HD (ES = 0.53; 95% CI: 0.42-0.67; I-2 = 56.4%). Patients with DS had a higher overall co-occurrence of cancer (ES = 1.46; 95% CI: 1.08-1.96; I-2 = 87.9%). No association was observed between cancer and ALS (ES = 0.97; 95% CI: 0.76-1.25; I-2 = 0.0%) or SCZ (ES = 0.98; 95% CI: 0.90-1.07; I-2 = 96.3%). Patients with PD, MS and SCZ showed (a) higher co-occurrence of some specific cancers (e. g. PD with melanoma, MS with brain cancers and SCZ with breast cancer), and (b) lower co-occurrence of other specific cancers (e. g. lung, prostate and colorectal cancers in PD; lung and prostate cancers in MS; and melanoma and prostate cancer in SCZ). Conclusion: Increased and decreased co-occurrence of cancer in patients with CNS disorders represents an opportunity to discover biological and non-biological connections between these complex disorders. (C) 2014 S. Karger AG, Basel
C1 [Catala-Lopez, Ferran] Spanish Med & Healthcare Prod Agcy, Div Pharmacoepidemiol & Pharmacovigilance, Madrid, Spain.
[Suarez-Pinilla, Paula; Gomez-Beneyto, Manuel; Balanza-Martinez, Vicent; Crespo-Facorro, Benedicto; Sanchez-Moreno, Jose; Vieta, Eduard; Tabares-Seisdedos, Rafael] Ctr Invest Biomed Red Salud Mental CIBERSAM, Madrid, Spain.
[Valencia, Alfonso] Spanish Natl Canc Res Ctr CNIO, Madrid, Spain.
[Catala-Lopez, Ferran] Univ Valencia, Fdn Inst Invest Serv Salud, ES-46010 Valencia, Spain.
[Gomez-Beneyto, Manuel; Balanza-Martinez, Vicent; Tabares-Seisdedos, Rafael] Univ Valencia, Teaching Unit Psychiat & Psychol Med, Dept Med, ES-46010 Valencia, Spain.
[Climent, Joan; Tabares-Seisdedos, Rafael] Inst Invest Sanitaria Valencia NCLIVA, Valencia, Spain.
[Suarez-Pinilla, Marta] Univ Oviedo, Hosp Cent Asturias, Dept Neurol, E-33080 Oviedo, Spain.
[Suarez-Pinilla, Paula; Crespo-Facorro, Benedicto] Univ Cantabria, Sch Med, Dept Psychiat, Univ Hosp Marques Valdecilla,IFIMAV, E-39005 Santander, Spain.
[Martinez, Salvador] Univ Miguel Hernandez, CSIC, Inst Neurociencias Alicante, Alacant, Spain.
[Sanchez-Moreno, Jose; Vieta, Eduard] Univ Barcelon, IDIBAPS, Hosp Clin, Barcelona, Spain.
[Valderas, Jose Maria] Univ Oxford, Dept Primary Care Hlth Sci, Hlth Serv & Policy Res Grp, NIHR Sch Primary Care Res, Oxford, England.
[McGrath, John] Univ Queensland, Queensland Brain Inst, Brisbane, Qld, Australia.
RP Tabares-Seisdedos, R (reprint author), Univ Valencia, Dept Med, CIBERSAM, INCLIVA, Blasco Ibanez 15, ES-46010 Valencia, Spain.
EM Rafael.Tabares@uv.es
RI Valderas, Jose/G-7967-2014
OI Valderas, Jose/0000-0002-9299-1555
FU Spanish Ministry of Economy and Competitiveness; Institute of Health
Carlos III; CIBERSAM; INCLIVA; Generalitat Valenciana [PROMETEO
11/2011/042]
FX This article was supported in part by grants received by R.T.-S. from
the Spanish Ministry of Economy and Competitiveness, Institute of Health
Carlos III, CIBERSAM, INCLIVA, Generalitat Valenciana (PROMETEO
11/2011/042).
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NR 83
TC 10
Z9 10
PU KARGER
PI BASEL
PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
SN 0033-3190
EI 1423-0348
J9 PSYCHOTHER PSYCHOSOM
JI Psychother. Psychosom.
PY 2014
VL 83
IS 2
BP 89
EP 105
DI 10.1159/000356498
PG 17
WC Psychiatry; Psychology
SC Psychiatry; Psychology
GA 302WH
UT WOS:000330635300003
PM 24458030
ER
PT J
AU Poustka, L
Brandeis, D
Hohmann, S
Holtmann, M
Bolte, S
Banaschewski, T
AF Poustka, Luise
Brandeis, Daniel
Hohmann, Sarah
Holtmann, Martin
Bolte, Sven
Banaschewski, Tobias
TI Neurobiologically based interventions for autism spectrum
disorders-rationale and new directions
SO RESTORATIVE NEUROLOGY AND NEUROSCIENCE
LA English
DT Article
DE Autism spectrum disorder; intervention; novel treatments; neurofeedback;
neural plasticity
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; REAL-TIME
FMRI; COMPUTER-ASSISTED-INSTRUCTION; MIRROR NEURON DYSFUNCTION; IMPAIRED
MEMORY FUNCTIONS; FUSIFORM FACE AREA; ASPERGER-SYNDROME; WHITE-MATTER;
EXECUTIVE FUNCTION
AB Autism spectrum disorders (ASD) are heterogeneous, neurodevelopmental disorders with early onset, characterized by a triad of impairments in reciprocal interaction and communication as well as repetitive and restricted interests and activities. Though underlying causes still remain largely unknown, there is now evidence for abnormal growth trajectories in the early brain development in ASD during vulnerable periods and subsequent impairment of neuronal organization and differentiation of neuronal networks. A growing number of studies over the last 10 years support the efficacy of behaviorally based interventions in ASD for the improvement of social communication and behavioral functioning. In contrast, research on neurobiologically based therapies for ASD is still at its beginnings. In this article, we will provide a selective overview of novel interventions and trainings based on neurobiological principles. Directions and options for future research on treatment aiming at restoration of normal plasticity in disrupted brain circuits in ASD are discussed.
C1 [Poustka, Luise; Brandeis, Daniel; Hohmann, Sarah; Holtmann, Martin; Bolte, Sven; Banaschewski, Tobias] Heidelberg Univ, Med Fac Mannheim, Cent Inst Mental Hlth, Dept Child & Adolescent Psychiat & Psychotherapy, Mannheim, Germany.
[Brandeis, Daniel] Univ Zurich, Dept Child & Adolescent Psychiat, Zurich, Switzerland.
[Brandeis, Daniel] Univ Zurich, Zurich Ctr Integrat Human Physiol, Zurich, Switzerland.
[Bolte, Sven] Ruhr Univ Bochum, LWL Univ Hosp Child & Adolescent Psychiat Psychot, Hamm, Germany.
[Bolte, Sven] Karolinska Inst, Ctr Neurodev Disorders, Dept Womens & Childrens Hlth, Stockholm, Sweden.
RP Poustka, L (reprint author), Cent Inst Mental Hlth, Dept Child & Adolescent Psychiat & Psychotherapy, J 5, D-68159 Mannheim, Germany.
EM luise.poustka@zi-mannheim.de
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NR 165
TC 1
Z9 1
PU IOS PRESS
PI AMSTERDAM
PA NIEUWE HEMWEG 6B, 1013 BG AMSTERDAM, NETHERLANDS
SN 0922-6028
EI 1878-3627
J9 RESTOR NEUROL NEUROS
JI Restor. Neurol. Neurosci.
PY 2014
VL 32
IS 1
BP 197
EP 212
DI 10.3233/RNN-139010
PG 16
WC Neurosciences
SC Neurosciences & Neurology
GA 302FQ
UT WOS:000330588100015
PM 23603445
ER
PT J
AU Liratni, M
Blanchet, C
Pry, R
AF Liratni, M.
Blanchet, C.
Pry, R.
TI Place of socialization/communication learning groups in autism with
moderate mental retardation
SO ARCHIVES DE PEDIATRIE
LA French
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; SOCIAL-SKILLS; CHILDREN;
INTERVENTION; EPIDEMIOLOGY; ADOLESCENTS; ADULTS
AB Studies based on social skills training groups for people with autism always target people without mental retardation and the subjects are more often teenagers and adults than children. Quantitative and standardized psychometrics are not routinely studied.
Objectives. Describing the changes in symptoms and social communication skills of five children with autism and moderate mental retardation, who participated in 20 sessions in a social skills training group appropriate to their developmental level.
Method. Standardized scales to develop the target skills and applied behavioral analysis and structured techniques were implemented in these sessions. To measure changes, we assessed the children before and after the 20 sessions (Vineland Adaptative Behavior Scale and Autism Diagnostic Observation Schedule) and we noted whether or not of the target skills were achieved.
Results. The scores showed a significant improvement in autistic symptoms and social communication skills.
Conclusion. The results show that this type of educational experience appears relevant to meeting objectives in social and communication skills. However, any conclusions as to a significant impact of the intervention are strongly limited by the absence of a control group. (C) 2013 Elsevier Masson SAS. All rights reserved.
C1 [Liratni, M.; Blanchet, C.] SESSAD Ombrelle, F-34990 Juvignac, France.
[Liratni, M.; Pry, R.] Univ Montpellier 3, Psychol Lab, Lab Psychol UFR 5, F-34199 Montpellier 5, France.
RP Liratni, M (reprint author), SESSAD Ombrelle, 11 Rue Romarin, F-34990 Juvignac, France.
EM liratni@live.fr
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 26
TC 0
Z9 0
PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
PI PARIS
PA 23 RUE LINOIS, 75724 PARIS, FRANCE
SN 0929-693X
EI 1769-664X
J9 ARCH PEDIATRIE
JI Arch. Pediatr.
PD JAN
PY 2014
VL 21
IS 1
BP 20
EP 26
DI 10.1016/j.arcped.2013.10.021
PG 7
WC Pediatrics
SC Pediatrics
GA 300XL
UT WOS:000330497200005
PM 24321869
ER
PT J
AU Leech, R
Sharp, DJ
AF Leech, Robert
Sharp, David J.
TI The role of the posterior cingulate cortex in cognition and disease
SO BRAIN
LA English
DT Review
DE posterior cingulate cortex; attention: functional connectivity; default
mode network; metastability
ID DEFAULT-MODE NETWORK; TRAUMATIC BRAIN-INJURY;
ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; STATE FUNCTIONAL CONNECTIVITY;
POSITRON-EMISSION-TOMOGRAPHY; PURE TOPOGRAPHIC DISORIENTATION; DEFICIT
HYPERACTIVITY DISORDER; TREATMENT-RESISTANT DEPRESSION;
STIMULUS-INDEPENDENT THOUGHT; PROPOFOL-INDUCED LOSS
AB The posterior cingulate cortex is a highly connected and metabolically active brain region. Recent studies suggest it has an important cognitive role, although there is no consensus about what this is. The region is typically discussed as having a unitary function because of a common pattern of relative deactivation observed during attentionally demanding tasks. One influential hypothesis is that the posterior cingulate cortex has a central role in supporting internally-directed cognition. It is a key node in the default mode network and shows increased activity when individuals retrieve autobiographical memories or plan for the future, as well as during unconstrained 'rest' when activity in the brain is 'free-wheeling'. However, other evidence suggests that the region is highly heterogeneous and may play a direct role in regulating the focus of attention. In addition, its activity varies with arousal state and its interactions with other brain networks may be important for conscious awareness. Understanding posterior cingulate cortex function is likely to be of clinical importance. It is well protected against ischaemic stroke, and so there is relatively little neuropsychological data about the consequences of focal lesions. However, in other conditions abnormalities in the region are clearly linked to disease. For example, amyloid deposition and reduced metabolism is seen early in Alzheimer's disease. Functional neuroimaging studies show abnormalities in a range of neurological and psychiatric disorders including Alzheimer's disease, schizophrenia, autism, depression and attention deficit hyperactivity disorder, as well as ageing. Our own work has consistently shown abnormal posterior cingulate cortex function following traumatic brain injury, which predicts attentional impairments. Here we review the anatomy and physiology of the region and how it is affected in a range of clinical conditions, before discussing its proposed functions. We synthesize key findings into a novel model of the region's function (the 'Arousal, Balance and Breadth of Attention' model). Dorsal and ventral subcomponents are functionally separated and differences in regional activity are explained by considering: (i) arousal state; (ii) whether attention is focused internally or externally; and (iii) the breadth of attentional focus. The predictions of the model can be tested within the framework of complex dynamic systems theory, and we propose that the dorsal posterior cingulate cortex influences attentional focus by 'tuning' whole-brain metastability and so adjusts how stable brain network activity is over time.
C1 [Leech, Robert; Sharp, David J.] Univ London Imperial Coll Sci Technol & Med, Computat Cognit & Clin Neuroimaging Lab, Div Brain Sci, London W12 0NN, England.
RP Leech, R (reprint author), Univ London Imperial Coll Sci Technol & Med, Computat Cognit & Clin Neuroimaging Lab, Div Brain Sci, Hammersmith Hosp Campus,Du Cane Rd, London W12 0NN, England.
EM r.leech@imperial.ac.uk
FU Medical Research Council (UK); National Institute of Health Research
(NIHR); Imperial College Healthcare Charity; Research Councils UK
FX This work was supported by grants from The Medical Research Council (UK)
and the National Institute of Health Research (NIHR) to D.J.S., The
Imperial College Healthcare Charity to D.J.S. and Research Councils UK
to R.L.
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NR 174
TC 59
Z9 59
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 JAN
PY 2014
VL 137
BP 12
EP 32
DI 10.1093/brain/awt162
PN 1
PG 21
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA 299ZK
UT WOS:000330434000006
PM 23869106
ER
PT J
AU Grabrucker, S
Jannetti, L
Eckert, M
Gaub, S
Chhabra, R
Pfaender, S
Mangus, K
Reddy, PP
Rankovic, V
Schmeisser, MJ
Kreutz, MR
Ehret, G
Boeckers, TM
Grabrucker, AM
AF Grabrucker, Stefanie
Jannetti, Linda
Eckert, Matti
Gaub, Simone
Chhabra, Resham
Pfaender, Stefanie
Mangus, Katharina
Reddy, Parameshwar Pasham
Rankovic, Vladan
Schmeisser, Michael J.
Kreutz, Michael R.
Ehret, Guenter
Boeckers, Tobias M.
Grabrucker, Andreas M.
TI Zinc deficiency dysregulates the synaptic ProSAP/Shank scaffold and
might contribute to autism spectrum disorders
SO BRAIN
LA English
DT Article
DE PSD; ASD; Shank3; synapse; Zn2+
ID 22Q13 DELETION SYNDROME; TRACE-ELEMENTS COPPER; NITRIC-OXIDE;
POSTSYNAPTIC DENSITY; METALLOTHIONEIN-III; INTRACELLULAR ZINC; SHANK3;
MICE; GENE; BRAIN
AB Proteins of the ProSAP/Shank family act as major organizing scaffolding elements within the postsynaptic density of excitatory synapses. Deletions, mutations or the downregulation of these molecules has been linked to autism spectrum disorders, the related Phelan McDermid Syndrome or Alzheimer's disease. ProSAP/Shank proteins are targeted to synapses depending on binding to zinc, which is a prerequisite for the assembly of the ProSAP/Shank scaffold. To gain insight into whether the previously reported assembly of ProSAP/Shank through zinc ions provides a crossing point between genetic forms of autism spectrum disorder and zinc deficiency as an environmental risk factor for autism spectrum disorder, we examined the interplay between zinc and ProSAP/Shank in vitro and in vivo using neurobiological approaches. Our data show that low postsynaptic zinc availability affects the activity dependent increase in ProSAP1/Shank2 and ProSAP2/Shank3 levels at the synapse in vitro and that a loss of synaptic ProSAP1/Shank2 and ProSAP2/Shank3 occurs in a mouse model for acute and prenatal zinc deficiency. Zinc-deficient animals displayed abnormalities in behaviour such as over-responsivity and hyperactivity-like behaviour (acute zinc deficiency) and autism spectrum disorder-related behaviour such as impairments in vocalization and social behaviour (prenatal zinc deficiency). Most importantly, a low zinc status seems to be associated with an increased incidence rate of seizures, hypotonia, and attention and hyperactivity issues in patients with Phelan-McDermid syndrome, which is caused by haploinsufficiency of ProSAP2/Shank3. We suggest that the molecular underpinning of prenatal zinc deficiency as a risk factor for autism spectrum disorder may unfold through the deregulation of zinc-binding ProSAP/Shank family members.
C1 [Grabrucker, Stefanie; Jannetti, Linda; Eckert, Matti; Chhabra, Resham; Mangus, Katharina; Grabrucker, Andreas M.] Univ Ulm, Dept Neurol, WG Mol Anal Synaptopathies, Neuroctr, D-89081 Ulm, Germany.
[Grabrucker, Stefanie; Gaub, Simone; Ehret, Guenter] Univ Ulm, Inst Neurobiol, D-89081 Ulm, Germany.
[Pfaender, Stefanie; Schmeisser, Michael J.; Boeckers, Tobias M.; Grabrucker, Andreas M.] Univ Ulm, Inst Anat & Cell Biol, D-89081 Ulm, Germany.
[Reddy, Parameshwar Pasham; Rankovic, Vladan; Kreutz, Michael R.] Leibniz Inst Neurobiol, RG Neuroplast, Magdeburg, Germany.
RP Grabrucker, AM (reprint author), Univ Ulm, Dept Neurol, WG Mol Anal Synaptopathies, Albert Einstein Allee 11, D-89081 Ulm, Germany.
EM andreas.grabrucker@uni-ulm.de
FU Baustein 3.2 [L.SBN.0083]; DAAD; ANR [ANR-08-MNPS-037-01 - SynGen];
Neuron-ERANET (EUHF-AUTISM); Fondation Orange; Fondation FondaMentale
FX This work was supported by Baustein 3.2 (L.SBN.0083) and the DAAD (to A.
M. G). T. B. was funded by the ANR (ANR-08-MNPS-037-01 - SynGen),
Neuron-ERANET (EUHF-AUTISM), Fondation Orange and the Fondation
FondaMentale. M. R. K by the DFG (SFB 779/TPB8; Kr1879/3-1). S. G. is a
member of the International Graduate School in Molecular Medicine at Ulm
University.
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NR 61
TC 12
Z9 12
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 JAN
PY 2014
VL 137
BP 137
EP 152
DI 10.1093/brain/awt303
PN 1
PG 16
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA 299ZK
UT WOS:000330434000015
PM 24277719
ER
PT J
AU Eilam-Stock, T
Xu, PF
Cao, M
Gu, XS
Van Dam, NT
Anagnostou, E
Kolevzon, A
Soorya, L
Park, Y
Siller, M
He, Y
Hof, PR
Fan, J
AF Eilam-Stock, Tehila
Xu, Pengfei
Cao, Miao
Gu, Xiaosi
Van Dam, Nicholas T.
Anagnostou, Evdokia
Kolevzon, Alexander
Soorya, Latha
Park, Yunsoo
Siller, Michael
He, Yong
Hof, Patrick R.
Fan, Jin
TI Abnormal autonomic and associated brain activities during rest in autism
spectrum disorder
SO BRAIN
LA English
DT Article
DE autism; autonomic nervous system; emotion; skin conductance; resting
state
ID SKIN-CONDUCTANCE RESPONSES; STATE FUNCTIONAL CONNECTIVITY; ANTERIOR
INSULAR CORTEX; DEFAULT-MODE NETWORK; NERVOUS-SYSTEM ACTIVITY;
HEART-RATE FEEDBACK; PHYSIOLOGICAL CONDITION; EMOTIONAL AWARENESS;
MAGNETIC-RESONANCE; SELF-REFLECTION
AB Autism spectrum disorders are associated with social and emotional deficits, the aetiology of which are not well understood. A growing consensus is that the autonomic nervous system serves a key role in emotional processes, by providing physiological signals essential to subjective states. We hypothesized that altered autonomic processing is related to the socio-emotional deficits in autism spectrum disorders. Here, we investigated the relationship between non-specific skin conductance response, an objective index of sympathetic neural activity, and brain fluctuations during rest in high-functioning adults with autism spectrum disorder relative to neurotypical controls. Compared with control participants, individuals with autism spectrum disorder showed less skin conductance responses overall. They also showed weaker correlations between skin conductance responses and frontal brain regions, including the anterior cingulate and anterior insular cortices. Additionally, skin conductance responses were found to have less contribution to default mode network connectivity in individuals with autism spectrum disorders relative to controls. These results suggest that autonomic processing is altered in autism spectrum disorders, which may be related to the abnormal socio-emotional behaviours that characterize this condition.
C1 [Eilam-Stock, Tehila; Van Dam, Nicholas T.; Fan, Jin] CUNY Queens Coll, Dept Psychol, Flushing, NY 11367 USA.
[Eilam-Stock, Tehila; Fan, Jin] CUNY, Grad Ctr, New York, NY 10016 USA.
[Eilam-Stock, Tehila; Van Dam, Nicholas T.; Anagnostou, Evdokia; Kolevzon, Alexander; Soorya, Latha; Park, Yunsoo; Fan, Jin] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA.
[Xu, Pengfei; Cao, Miao; He, Yong] Beijing Normal Univ, State Key Lab Cognit Neurosci, McGovern Inst Brain Res, Beijing 100875, Peoples R China.
[Xu, Pengfei; Cao, Miao; He, Yong] Beijing Normal Univ, Learning & Int Data Grp, McGovern Inst Brain Res, Beijing 100875, Peoples R China.
[Gu, Xiaosi] UCL, Wellcome Trust Ctr Neuroimaging, London WC1N 3BG, England.
[Gu, Xiaosi] Virginia Tech, Caril Res Inst, Roanoke, VA 24016 USA.
[Anagnostou, Evdokia; Kolevzon, Alexander; Soorya, Latha; Fan, Jin] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA.
[Siller, Michael] CUNY Hunter Coll, Dept Psychol, New York, NY 10065 USA.
[Hof, Patrick R.; Fan, Jin] Icahn Sch Med Mt Sinai, Fishberg Dept Neurosci, New York, NY 10029 USA.
[Hof, Patrick R.; Fan, Jin] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY 10029 USA.
RP Fan, J (reprint author), CUNY Queens Coll, Dept Psychol, Flushing, NY 11367 USA.
EM jin.fan@qc.cuny.edu
RI Fan, Jin/A-6716-2009
OI Fan, Jin/0000-0001-9630-8330
FU National Institute of Health (NIH) [R21 MH083164]; Queens College, City
University of New York; National Center for Research Resources (NCRR)
[UL1 RR029887]; James S. McDonnell Foundation [22002078]; National
Natural Science Foundation [81030028]; National Science Fund for
Distinguished Young Scholars of China [81225012]; Beatrice and Samuel A.
Seaver Foundation
FX This research was supported by the National Institute of Health (NIH)
Grant R21 MH083164 and two Research Enhancement Awards from Queens
College, City University of New York, to J.F., along with the National
Center for Research Resources (NCRR) Grant UL1 RR029887, and a James S.
McDonnell Foundation grant (22002078, to P. R. H.). Two additional
grants, from the National Natural Science Foundation (Grant No.
81030028) and the National Science Fund for Distinguished Young Scholars
(Grant No. 81225012) of China to Y.H., helped in supporting this study.
The contents are the sole responsibility of the authors and do not
necessarily represent the official views of the aforementioned funding
agencies. We would like to acknowledge the Beatrice and Samuel A. Seaver
Foundation for their support. The authors report no biomedical financial
interests or potential conflicts of interest.
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NR 103
TC 3
Z9 3
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0006-8950
EI 1460-2156
J9 BRAIN
JI Brain
PD JAN
PY 2014
VL 137
BP 153
EP 171
DI 10.1093/brain/awt294
PN 1
PG 19
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA 299ZK
UT WOS:000330434000016
PM 24424916
ER
PT J
AU Nam, S
Chun, J
AF Nam, SungHee
Chun, JongSerl
TI Influencing factors on mothers' parenting style of young children at
risk for developmental delay in South Korea: The mediating effects of
parenting stress
SO CHILDREN AND YOUTH SERVICES REVIEW
LA English
DT Article
DE Parenting style; Children with or at risk of developmental delay;
Parenting stress
ID AUTISM SPECTRUM DISORDERS; MATERNAL SELF-EFFICACY; EARLY INTERVENTION;
INTENTIONAL COMMUNICATION; FAMILY INTERACTIONS; BEHAVIOR PROBLEMS; EARLY
EXPERIENCE; EARLY-CHILDHOOD; RESPONSIVENESS; INFANTS
AB Parenting style is regarded as one of the most significant factors for children's development, especially for children with or at risk of developmental delay. Due to the importance of parenting style, this study explored factors that affect the parenting style in families with children at risk for or with developmental delay in South Korea. Guided by the Transactional model of Development and the Belsky's Model of Parenting, this study specifically addressed the influence that parent, child, and social context characteristics have on parenting style. This study is a secondary data analysis of 470 mothers who participated in the second wave of the Panel Study on Korean Children conducted in 2009. The results showed that mother's employment, mother's age, parenting stress, and social support were significantly related to mother's parenting style. There were two major implications. First, early intervention programs need to provide services to both parents and children in order to improve children's outcomes. Second, mothers of children at risk of developmental delay need to be encouraged to participate as active agents in their children's development. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Nam, SungHee; Chun, JongSerl] Ewha Womans Univ, Dept Social Welf, Seoul 120750, South Korea.
RP Nam, S (reprint author), Ewha Womans Univ, Dept Social Welf, 11-1 Daehyun Dong, Seoul 120750, South Korea.
EM ebbunsh@gmail.com; jschun@ewha.ac.kr
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NR 100
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0190-7409
EI 1873-7765
J9 CHILD YOUTH SERV REV
JI Child. Youth Serv. Rev.
PD JAN
PY 2014
VL 36
BP 81
EP 89
DI 10.1016/j.childyouth.2013.11.008
PG 9
WC Family Studies; Social Work
SC Family Studies; Social Work
GA 297NF
UT WOS:000330261500010
ER
PT J
AU Noriega, DB
Savelkoul, HFJ
AF Noriega, Daniela Briceno
Savelkoul, Huub F. J.
TI Immune dysregulation in autism spectrum disorder
SO EUROPEAN JOURNAL OF PEDIATRICS
LA English
DT Review
DE Autism; Dietary intervention; Immune mechanism; Nutrition; Inflammation;
Immunomodulation
ID PERVASIVE DEVELOPMENTAL DISORDERS; VITAMIN-D; RISK-FACTORS; ANTIBRAIN
ANTIBODIES; MATERNAL INFECTION; PROXIMAL 15Q; TWIN PAIRS; BRAIN;
CHILDREN; PREGNANCY
AB Autism spectrum disorder (ASD) is a common and severe neuro-developmental disorder in early childhood which is defined by social and communication deficits and repetitive and stereotypic behaviours. The aetiology of ASD remains poorly understood. Susceptibility to development of ASD has significant environmental components, in addition to the profound genetic heritability. Few genes have been associated to the risk for ASD development. There is substantial evidence implicating chronic neurological inflammation and immune dysregulation leading to upregulation of inflammatory cytokines in the ASD brain, probably due to altered blood-brain barrier function. The immune system is characterized by excessive and skewed cytokine responses, modulated T cell reactivity, decreased regulation and production of immunosuppressive cytokines, modified NK function and increased autoantibody production. Conclusion: The perinatal environment generates vulnerability to chronic neuro-inflammation in the brain associated with profound modulation and dysregulation in the immune system leading to the rapid development of ASD in genetically susceptible children.
C1 [Noriega, Daniela Briceno; Savelkoul, Huub F. J.] Wageningen Univ, Cell Biol & Immunol Grp, NL-6700 AH Wageningen, Netherlands.
RP Savelkoul, HFJ (reprint author), Wageningen Univ, Cell Biol & Immunol Grp, POB 338, NL-6700 AH Wageningen, Netherlands.
EM huub.savelkoul@wur.nl
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NR 99
TC 5
Z9 5
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0340-6199
EI 1432-1076
J9 EUR J PEDIATR
JI Eur. J. Pediatr.
PD JAN
PY 2014
VL 173
IS 1
BP 33
EP 43
DI 10.1007/s00431-013-2183-4
PG 11
WC Pediatrics
SC Pediatrics
GA 302QP
UT WOS:000330620300004
PM 24297668
ER
PT J
AU Cortelazzo, A
De Felice, C
Guerranti, R
Signorini, C
Leoncini, S
Pecorelli, A
Zollo, G
Landi, C
Valacchi, G
Ciccoli, L
Bini, L
Hayek, J
AF Cortelazzo, Alessio
De Felice, Claudio
Guerranti, Roberto
Signorini, Cinzia
Leoncini, Silvia
Pecorelli, Alessandra
Zollo, Gloria
Landi, Claudia
Valacchi, Giuseppe
Ciccoli, Lucia
Bini, Luca
Hayek, Joussef
TI Subclinical Inflammatory Status in Rett Syndrome
SO MEDIATORS OF INFLAMMATION
LA English
DT Article
ID ERYTHROCYTE SEDIMENTATION-RATE; AUTISM SPECTRUM DISORDERS; OXIDATIVE
STRESS; BRAIN INFLAMMATION; PLASMA-PROTEIN; BINDING; MECP2; SERUM;
IDENTIFICATION; DYSFUNCTION
AB Inflammation has been advocated as a possible common central mechanism for developmental cognitive impairment. Rett syndrome (RTT) is a devastating neurodevelopmental disorder, mainly caused by de novo loss-of-function mutations in the gene encoding MeCP2. Here, we investigated plasma acute phase response (APR) in stage II (i.e., "pseudo-autistic") RTT patients by routine haematology/clinical chemistry and proteomic 2-DE/MALDI-TOF analyses as a function of four major MECP2 gene mutation types (R306C, T158M, R168X, and large deletions). Elevated erythrocyte sedimentation rate values (median 33.0 mm/h versus 8.0 mm/h, P < 0.0001) were detectable in RTT, whereas C-reactive protein levels were unchanged (P = 0.63). The 2-DE analysis identified significant changes for a total of 17 proteins, the majority of which were categorized as APR proteins, either positive (n = 6 spots) or negative (n = 9 spots), and to a lesser extent as proteins involved in the immune system (n = 2 spots), with some proteins having overlapping functions on metabolism (n = 7 spots). The number of protein changes was proportional to the severity of the mutation. Our findings reveal for the first time the presence of a subclinical chronic inflammatory status related to the "pseudo-autistic" phase of RTT, which is related to the severity carried by the MECP2 gene mutation.
C1 [Cortelazzo, Alessio; Leoncini, Silvia; Pecorelli, Alessandra; Zollo, Gloria; Hayek, Joussef] Univ Hosp Azienda Ospedaliera Univ Senese AOUS, Child Neuropsychiat Unit, I-53100 Siena, Italy.
[Cortelazzo, Alessio; Guerranti, Roberto] Univ Siena, Dept Med Biotechnol, I-53100 Siena, Italy.
[De Felice, Claudio] Univ Hosp AOUS, Neonatal Intens Care Unit, I-53100 Siena, Italy.
[Signorini, Cinzia; Leoncini, Silvia; Pecorelli, Alessandra; Zollo, Gloria; Ciccoli, Lucia] Univ Siena, Dept Mol & Dev Med, I-53100 Siena, Italy.
[Landi, Claudia; Bini, Luca] Univ Siena, Dept Life Sci, I-53100 Siena, Italy.
[Valacchi, Giuseppe] Univ Ferrara, Dept Life Sci & Biotechnol, I-44100 Ferrara, Italy.
[Valacchi, Giuseppe] Kyung Hee Univ, Dept Food & Nutr, Seoul 130701, South Korea.
RP Cortelazzo, A (reprint author), Univ Hosp Azienda Ospedaliera Univ Senese AOUS, Child Neuropsychiat Unit, Viale M Bracci 16, I-53100 Siena, Italy.
EM corteale@gmail.com
FU Tuscany Region, Italy; Associazione Italiana Rett; Kiwanis Club and
Round Table 41 Club of Siena; Nencioni family from Fiesole and Florence;
Tanturli family from Fiesole and Florence
FX The present research project has been funded by the Tuscany Region
(Bando Salute 2009, "Antioxidants (omega-3 polyunsaturated fatty acids,
lipoic acid) supplementation in Rett syndrome: a novel approach to
therapy"), Italy. Furthermore the authors are grateful for support from
Associazione Italiana Rett, (A.I.R., President Mrs. Lucia Dovigo), the
Kiwanis Club and Round Table 41 Club of Siena, and the Nencioni and
Tanturli families from Fiesole and Florence. The authors acknowledge the
Medical Genetic Unit of the Siena University (Head: Professor Alessandra
Renieri) for gene mutations analysis. They sincerely thank Drs.
Pierluigi Tosi, Silvia Briani, and Roberta Croci from the Administrative
Direction of the Azienda Ospedaliera Senese for continued support to our
studies and the Azienda Ospedaliera Senese for prior purchasing of the
gas spectrometry instrumentation; Roberto Faleri from the Medical
Central Library (for online bibliographic research assistance). We are
very grateful to Maestro Roberto Innocenti (2008 winner of the IBBY Hans
Christian Andersen award as best illustrator) for kindly endorsing the
illustrations of a book in progress dedicated to the Rett syndrome girls
and families. They heartily thank the professional singer Matteo Setti
(http://www.matteosetti.com/) for having serendipitously triggered the
scientific studies on hypoxia-related oxidative stress in Rett girls and
autistic children, as well as his many charity concerts and continued
interest in the scientific aspects of our research. Finally, they
sincerely thank the Rett girls and their families.
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NR 76
TC 0
Z9 0
PU HINDAWI PUBLISHING CORPORATION
PI NEW YORK
PA 410 PARK AVENUE, 15TH FLOOR, #287 PMB, NEW YORK, NY 10022 USA
SN 0962-9351
EI 1466-1861
J9 MEDIAT INFLAMM
JI Mediat. Inflamm.
PY 2014
AR 480980
DI 10.1155/2014/480980
PG 13
WC Cell Biology; Immunology
SC Cell Biology; Immunology
GA 301CO
UT WOS:000330510500001
ER
PT J
AU Stockler-Ipsiroglu, S
van Karnebeek, C
Longo, N
Korenke, GC
Mercimek-Mahmutoglu, S
Marquart, I
Barshop, B
Grolik, C
Schlune, A
Angle, B
Araujo, HC
Coskun, T
Diogo, L
Geraghty, M
Haliloglu, G
Konstantopoulou, V
Leuzzi, V
Levtova, A
MacKenzie, J
Maranda, B
Mhanni, AA
Mitchell, G
Morris, A
Newlove, T
Renaud, D
Scaglia, F
Valayannopoulos, V
van Spronsen, FJ
Verbruggen, KT
Yuskiv, N
Nyhan, W
Schulze, A
AF Stockler-Ipsiroglu, Sylvia
van Karnebeek, Clara
Longo, Nicola
Korenke, G. Christoph
Mercimek-Mahmutoglu, Saadet
Marquart, Iris
Barshop, Bruce
Grolik, Christiane
Schlune, Andrea
Angle, Brad
Araujo, Helena Caldeira
Coskun, Turgay
Diogo, Luisa
Geraghty, Michael
Haliloglu, Goknur
Konstantopoulou, Vassiliki
Leuzzi, Vincenzo
Levtova, Alina
MacKenzie, Jennifer
Maranda, Bruno
Mhanni, Aizeddin A.
Mitchell, Grant
Morris, Andrew
Newlove, Theresa
Renaud, Deborah
Scaglia, Fernando
Valayannopoulos, Vassili
van Spronsen, Francjan J.
Verbruggen, Krijn T.
Yuskiv, Nataliya
Nyhan, William
Schulze, Andreas
TI Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48
individuals and recommendations for diagnosis, treatment and monitoring
SO MOLECULAR GENETICS AND METABOLISM
LA English
DT Article
DE Creatine deficiency; Magnetic resonance spectroscopy; Speech delay;
Autism; Treatment evidence; Neurodevelopmental outcome
ID GLOBAL DEVELOPMENTAL DELAY; ARGININE RESTRICTION; CREATINE DEFICIENCY;
INBORN ERROR; PRESYMPTOMATIC TREATMENT; INTELLECTUAL DISABILITY;
MENTAL-RETARDATION; BRAIN; METABOLISM; ORNITHINE
AB We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as the most affected domains was present in 44 participants, with additional epilepsy present in 35 and movement disorder in 13. Treatment regimens included various combinations/dosages of creatine-monohydrate, L-ornithine, sodium benzoate and protein/arginine restricted diets. The median age at treatment initiation was 25.5 and 39 months in patients with mild and moderate DD/ID, respectively, and 11 years in patients with severe DD/ID. Increase of cerebral creatine and decrease of plasma/CSF guanidinoacetate levels were achieved by supplementation with creatine-monohydrate combined with high dosages of t-ornithine and/or an arginine-restricted diet (250 mg/kg/d L-arginine). Therapy was associated with improvement or stabilization of symptoms in all of the symptomatic cases. The 4 patients treated younger than 9 months had normal or almost normal developmental outcomes. One with inconsistent compliance had a borderline IQ at age 8.6 years. An observational GAMT database will be essential to identify the best treatment to reduce plasma guanidinoacetate levels and improve long-term outcomes. (C) 2013 The Authors. Published by Elsevier Inc. All rights reserved.
C1 [Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara; Newlove, Theresa; Yuskiv, Nataliya] Univ British Columbia, Dept Pediat, Vancouver, BC V6H 3V4, Canada.
[van Karnebeek, Clara] Univ British Columbia, Ctr Mol Med & Therapeut, Vancouver, BC V6H 3V4, Canada.
[Longo, Nicola] Univ Utah, Div Med Genet, Salt Lake City, UT USA.
[Korenke, G. Christoph; Marquart, Iris] Childrens Hosp Oldenburg, Dept Pediat Neurol, Oldenburg, Germany.
[Mercimek-Mahmutoglu, Saadet; Schulze, Andreas] Univ Toronto, Hosp Sick Children, Dept Pediat, Toronto, ON M5S 1A1, Canada.
[Barshop, Bruce; Nyhan, William] Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA.
[Grolik, Christiane] Childrens Hosp Cologne, Dept Pediat Neurol, Cologne, Germany.
[Schlune, Andrea] Univ Dusseldorf, Univ Childrens Hosp, Fac Med, Dept Gen Pediat Neonatol & Pediat Cardiol, Dusseldorf, Germany.
[Angle, Brad] Childrens Mem Hosp, Div Birth Defects & Metab, Chicago, IL 60614 USA.
[Araujo, Helena Caldeira] Univ Madeira, Unit Med Sci, Funchal, Madeira, Portugal.
[Coskun, Turgay; Haliloglu, Goknur] Hacettepe Univ, Dept Pediat, Ankara, Turkey.
[Diogo, Luisa] Pediat Hosp CHUC EPE, Coimbra, Portugal.
[Geraghty, Michael] Univ Ottawa, Dept Pediat, CHEO, Ottawa, ON K1N 6N5, Canada.
[Konstantopoulou, Vassiliki] Med Univ Vienna, Dept Pediat, Vienna, Austria.
[Leuzzi, Vincenzo] Univ Roma La Sapienza, Dept Pediat Child Neurol & Psychiat, I-00185 Rome, Italy.
[Levtova, Alina; Mitchell, Grant] St Justine Univ Hosp Ctr, Dept Pediat, Montreal, PQ, Canada.
[MacKenzie, Jennifer] Queens Univ, Dept Pediat, Kingston, ON K7L 3N6, Canada.
[Maranda, Bruno] Univ Sherbrooke, Div Genet, Sherbrooke, PQ J1K 2R1, Canada.
[Mhanni, Aizeddin A.] Univ Mannitoba, Dept Pediat & Child Hlth, Winnipeg, MB, Canada.
[Mitchell, Grant] St Justine Univ Res Ctr, Montreal, PQ, Canada.
[Morris, Andrew] Manchester Acad Hlth Sci Ctr, Dept Med Genet, Manchester, Lancs, England.
[Renaud, Deborah] Mayo Clin, Dept Neurol, Rochester, MN USA.
[Scaglia, Fernando] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
[Valayannopoulos, Vassili] Hop Necker Enfants Malad, Reference Ctr Inborn Errors Metab, Paris, France.
[van Spronsen, Francjan J.; Verbruggen, Krijn T.] Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, NL-9700 AB Groningen, Netherlands.
[Schulze, Andreas] Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, Canada.
RP Stockler-Ipsiroglu, S (reprint author), Univ British Columbia, British Columbia Childrens Hosp, Dept Pediat, Div Biochem Dis, K3-204-4480 Oak St, Vancouver, BC V6H 3V4, Canada.
EM sstockler@cw.bc.ca
FU BC-Children's Hospital Foundation
FX Funding for this project was obtained from TIDE BC (www.tidebc.org) a
BC-Children's Hospital Foundation funded Collaborative Area of
Innovation.
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NR 36
TC 7
Z9 7
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1096-7192
EI 1096-7206
J9 MOL GENET METAB
JI Mol. Genet. Metab.
PD JAN
PY 2014
VL 111
IS 1
BP 16
EP 25
DI 10.1016/j.ymgme.2013.10.018
PG 10
WC Biochemistry & Molecular Biology; Genetics & Heredity; Medicine,
Research & Experimental
SC Biochemistry & Molecular Biology; Genetics & Heredity; Research &
Experimental Medicine
GA 296AS
UT WOS:000330158100003
PM 24268530
ER
PT J
AU Scumpia, PO
Kelly-Scumpia, K
Stevens, BR
AF Scumpia, Philip O.
Kelly-Scumpia, Kindra
Stevens, Bruce R.
TI Alpha-lipoic acid effects on brain glial functions accompanying
double-stranded RNA antiviral and inflammatory signaling
SO NEUROCHEMISTRY INTERNATIONAL
LA English
DT Article
DE Lipoic acid; Double-stranded RNA; TLR3 (Toll-like receptor 3); PKR;
Glutamate
ID TOLL-LIKE RECEPTORS; GLUTAMATE TRANSPORTER EXPRESSION; DEPENDENT
PROTEIN-KINASE; INNATE IMMUNE-RESPONSES; NITRIC-OXIDE PRODUCTION;
BORNA-DISEASE VIRUS; SYSTEM X(C)(-); PERITONEAL-MACROPHAGES; ASTROGLIAL
CULTURES; HUNTINGTONS-DISEASE
AB Double-stranded RNAs (dsRNA) serve as viral ligands that trigger innate immunity in astrocytes and microglial, as mediated through Toll-like receptor 3 (TLR3) and dsRNA-dependent protein kinase (PKR). Beneficial transient TLR3 and PKR anti-viral signaling can become deleterious when events devolve into inflammation and cytotoxicity. Viral products in the brain cause glial cell dysfunction, and are a putative etiologic factor in neuropsychiatric disorders, notably schizophrenia, bipolar disorder, Parkinson's, and autism spectrum. Alpha-lipoic acid (LA) has been proposed as a possible therapeutic neuroprotectant. The objective of this study was to test our hypothesis that LA can control untoward antiviral mechanisms associated with neural dysfunction. Utilizing rat brain glial cultures (91% astrocytes:9% microglia) treated with PKR- and TLR3-ligand/viral mimetic dsRNA, polyinosinic-polycytidylic acid (polyl:C), we report in vitro glial antiviral signaling and LA reduction of the effects of this signaling. LA blunted the dsRNA-stimulated expression of IFNa/B-inducible genes Mxl, PKR, and TLR3. And in polyI:C treated cells, LA promoted gene expression of rate-limiting steps that benefit healthy neural redox status in glutamateric systems. To this end, LA decreased dsRNA-induced inflammatory signaling by downregulating IL-1 beta, IL-6, TNF alpha, iNOS, and CAT2 transcripts. In the presence of polyI:C, LA prevented cultured glial cytotoxicity which was correlated with increased expression of factors known to cooperatively control glutamate/cystine/glutathione redox cycling, namely glutamate uptake transporter GLAST/EAAT1, gamma-glutamyl cysteine ligase catalytic and regulatory subunits, and IL-10. Glutamate exporting transporter subunits 4F2hc and xCT were downregulated by LA in dsRNA-stimulated glia. L-Glutamate net uptake was inhibited by dsRNA, and this was relieved by LA. Glutathione synthetase mRNA levels were unchanged by dsRNA or LA. This study demonstrates the protective effects of LA in astroglial/microglial cultures, and suggests the potential for LA efficacy in virus-induced CNS pathologies, with the caveat that antiviral benefits are concomitantly blunted. It is concluded that LA averts key aspects of TLR3- and PKR-provoked glial dysfunction, and provides rationale for exploring LA in whole animal and human clinical studies to blunt or avert neuropsychiatric disorders. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Scumpia, Philip O.; Kelly-Scumpia, Kindra; Stevens, Bruce R.] Univ Florida, Coll Med, Dept Physiol & Funct Genom, Gainesville, FL 32610 USA.
RP Stevens, BR (reprint author), Univ Florida, Coll Med, Dept Physiol & Funct Genom, 1600 SW Archer Rd,Room M552 FedEx,POB 100274 US M, Gainesville, FL 32610 USA.
EM stevensb@UFL.EDU
FU American Heart Association [50975B]; NIH [T35-HL07489]
FX We thank Conn Sumners and Vermali Rodriguez for useful discussion and
assistance. Supported by American Heart Association Grant 50975B (to
B.R.S.) and NIH Grant T35-HL07489 (to P.O.S.).
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NR 110
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 JAN
PY 2014
VL 64
BP 55
EP 63
DI 10.1016/j.neuint.2013.11.006
PG 9
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA 301SI
UT WOS:000330552000008
PM 24269587
ER
PT J
AU Russo-Ponsaran, NM
Yesensky, J
Hessl, D
Berry-Kravis, E
AF Russo-Ponsaran, Nicole M.
Yesensky, Jessica
Hessl, David
Berry-Kravis, Elizabeth
TI Feasibility, Reproducibility, and Clinical Validity of the Pediatric
Anxiety Rating Scale-Revised for Fragile X Syndrome
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Fragile X syndrome; anxiety; outcome measure; rating scale
ID ABERRANT-BEHAVIOR-CHECKLIST; PSYCHOMETRIC PROPERTIES;
MENTAL-RETARDATION; YOUNG GIRLS; DISORDERS; CHILDREN; RELIABILITY;
DEPRESSION; FEMALES; QUESTIONNAIRE
AB Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and the most common known genetic cause of autism. FXS is associated with psychiatric impairments, including anxiety disorders. There is a paucity of well-developed measures to characterize anxiety in FXS. However, such scales are needed to measure therapeutic responses to interventions. The Pediatric Anxiety Rating Scale-Revised (PARS-R) was evaluated in 49 individuals with FXS. Feasibility, reproducibility, and clinical validity were assessed. High inter-rater, test-retest, and cross-site reliability were achieved. PARS-R scores were correlated with parent-report and physician ratings of anxiety, suggesting good clinical validity. Results were similar within gender and age subgroups. The PARS-R is a promising tool for measuring the efficacy of interventions targeting anxiety in FXS.
C1 [Russo-Ponsaran, Nicole M.] Rush Univ, Med Ctr, Dept Behav Sci, Rush NeuroBehav Ctr, Skokie, IL 60076 USA.
[Yesensky, Jessica] Rush Univ, Med Ctr, Skokie, IL 60076 USA.
[Hessl, David] Univ Calif Davis, Med Ctr, MIND Inst, Dept Psychiat & Behav Sci, Davis, CA 95616 USA.
[Berry-Kravis, Elizabeth] Rush Univ, Med Ctr, Dept Pediat, Dept Biochem,Dept Neurol Sci, Skokie, IL 60076 USA.
RP Russo-Ponsaran, NM (reprint author), Rush Univ, Med Ctr, Dept Behav Sci, Rush NeuroBehav Ctr, 4711 W Golf Rd,Suite 1100, Skokie, IL 60076 USA.
EM nicole_russo@rush.edu
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NR 56
TC 1
Z9 1
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1944-7515
EI 1944-7558
J9 AJIDD-AM J INTELLECT
JI AJIDD-Am. J. Intellect. Dev. Disabil.
PD JAN
PY 2014
VL 119
IS 1
BP 1
EP 16
DI 10.1352/1944-7558-119.1.1
PG 16
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 296LH
UT WOS:000330186000001
PM 24450318
ER
PT J
AU Raspa, M
Bailey, DB
Bann, C
Bishop, E
AF Raspa, Melissa
Bailey, Donald B., Jr.
Bann, Carla
Bishop, Ellen
TI Modeling Family Adaptation to Fragile X Syndrome
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Fragile 'X syndrome; quality of life; social support; well-being
ID AUTISM SPECTRUM DISORDER; NATIONAL PARENT SURVEY;
DEVELOPMENTAL-DISABILITIES; EARLY INTERVENTION; ABERRANT BEHAVIOR;
SOCIAL SUPPORT; YOUNG-CHILDREN; DOWN-SYNDROME; FIT INDEXES; MOTHERS
AB Using data from a survey of 1,099 families who have a child with Fragile X syndrome, we examined adaptation across 7 dimensions of family life: parenting knowledge, social support, social life, financial impact, well-being, quality of life, and overall impact. Results illustrate that although families report a high quality of life, they struggle with areas such as social support, social life, and parenting knowledge. Path analysis revealed that child and family factors play a role in adaptation, but family resources and social supports moderated their effect on quality of life, well-being, and overall impact. The interrelationship among multiple aspects of family life should be examined to improve family resiliency.
C1 [Raspa, Melissa; Bailey, Donald B., Jr.; Bann, Carla; Bishop, Ellen] RTI Int, Res Triangle Pk, NC 27709 USA.
RP Raspa, M (reprint author), RTI Int, Res Triangle Pk, NC 27709 USA.
EM mraspa@rti.org
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NR 64
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1944-7515
EI 1944-7558
J9 AJIDD-AM J INTELLECT
JI AJIDD-Am. J. Intellect. Dev. Disabil.
PD JAN
PY 2014
VL 119
IS 1
BP 33
EP 48
DI 10.1352/1944-7558-119.1.33
PG 16
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 296LH
UT WOS:000330186000003
PM 24450320
ER
PT J
AU Burgess, S
Cimera, RE
AF Burgess, Sloane
Cimera, Robert E.
TI Employment Outcomes of Transition-Aged Adults With Autism Spectrum
Disorders: A State of the States Report
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE autism spectrum disorders; employment outcomes; transition-aged;
vocational rehabilitation
ID FOLLOW-UP; YOUNG-ADULTS; YOUTH
AB The primary purpose of this study was to evaluate the employment outcomes of transition-aged adults with autism spectrum disorders (ASD) served by vocational rehabilitation services (VR) over the last 10 years by state. A secondary purpose was to compare employment outcomes of individuals with ASD to those of the overall transition-aged population served by VR for the same time period. Although there was variability both within and among states, the results of this study indicate that, over time, the number of young adults with ASD seeking VR services has increased; however, employment outcomes including the percent of adults with ASD achieving employment, the number of hours worked, and wages earned have not improved for this group. The cost to provide VR services to transition-aged adults with ASD was relatively stable over time. Transition-aged adults with ASD were more likely to become successfully employed as a result of receiving VR services than the overall population of transition-aged adults served by VR. However, the employed transition-aged adults consistently worked fewer hours and earned lower wages than those in the overall population. Factors that may influence variability within and among states, and between groups, and implications for research and practice are discussed.
C1 [Burgess, Sloane] Kent State Univ, Coll Educ Hlth & Human Serv, Kent, OH 44242 USA.
[Cimera, Robert E.] Kent State Univ, Kent, OH 44242 USA.
RP Burgess, S (reprint author), Kent State Univ, Coll Educ Hlth & Human Serv, 150 Terrace Dr,405 White Hall, Kent, OH 44242 USA.
EM sburges8@kent.edu
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NR 31
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 JAN
PY 2014
VL 119
IS 1
BP 64
EP 83
DI 10.1352/1944-7558-119.1.64
PG 20
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 296LH
UT WOS:000330186000005
PM 24450322
ER
PT J
AU Ankenman, K
Elgin, J
Sullivan, K
Vincent, L
Bernier, R
AF Ankenman, Katy
Elgin, Jenna
Sullivan, Katherine
Vincent, Logan
Bernier, Raphael
TI Nonverbal and Verbal Cognitive Discrepancy Profiles in Autism Spectrum
Disorders: Influence of Age and Gender
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE autism spectrum disorders; IQ
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS;
ASPERGER-SYNDROME; INTELLECTUAL ABILITIES; SEX-DIFFERENCES; CHILDREN;
IQ; INDIVIDUALS; SCORES
AB Research suggests that discrepant cognitive abilities are more common in children with autism spectrum disorder (ASD) and may indicate an important ASD endophenotype. The current study examined the frequency of IQ discrepancy profiles (nonverbal IQ > verbal IQ [NVIQ > VIQ], verbal IQ > nonverbal IQ [VIQ > NVIQ], and no split) and the relationship of gender, age, and ASD symptomatology to IQ discrepancy profile in a large sample of children with ASD. The NVIQ > VIQ profile occurred at a higher frequency than expected, had more young males, and showed more autism symptoms than the other groups. Results suggest that the NVIQ > VIQ profile may be less likely to represent a subtype of ASD, but rather a common developmental pathway for children with ASD and other disorders.
C1 [Ankenman, Katy; Elgin, Jenna; Bernier, Raphael] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA.
[Sullivan, Katherine] Univ Washington, Dept Psychol, Seattle, WA 98195 USA.
[Vincent, Logan] Univ Washington, Sch Med, Seattle, WA 98195 USA.
RP Bernier, R (reprint author), Univ Washington, Dept Psychiat & Behav Sci, Box 357920, Seattle, WA 98195 USA.
EM rab2@uw.edu
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NR 37
TC 1
Z9 1
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1944-7515
EI 1944-7558
J9 AJIDD-AM J INTELLECT
JI AJIDD-Am. J. Intellect. Dev. Disabil.
PD JAN
PY 2014
VL 119
IS 1
BP 84
EP 99
DI 10.1352/1944-7558-119.1.84
PG 16
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 296LH
UT WOS:000330186000006
PM 24450323
ER
PT J
AU Hilton, CL
Cumpata, K
Klohr, C
Gaetke, S
Artner, A
Johnson, H
Dobbs, S
AF Hilton, Claudia List
Cumpata, Kristina
Klohr, Cheryl
Gaetke, Shannon
Artner, Amanda
Johnson, Hailey
Dobbs, Sarah
TI Effects of Exergaming on Executive Function and Motor Skills in Children
With Autism Spectrum Disorder: A Pilot Study
SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY
LA English
DT Article
DE child development disorders pervasive; exercise; executive function;
motor skills disorders; video games
ID WORKING-MEMORY; PHYSICAL-ACTIVITY; ADOLESCENTS; PERFORMANCE; DEFICITS;
INTACT; IMPAIRMENT; PATTERNS
AB Executive function (EF) and motor deficits have consistently been documented in studies of people with autism spectrum disorders (ASD). We investigated the effects of a pilot 30-session Makoto arena training intervention, a light and sound speed-based exergame, on response speed, EF, and motor skills in school-aged children with ASD. Strong correlations were seen between certain EF and motor scores, suggesting a relationship between the two constructs. Participants increased their average reaction speed (effect size = 1.18). Significant improvement was seen in the EF areas of working memory and metacognition and the motor area of strength and agility. Findings suggest that use of exergaming, specifically the Makoto arena, has the potential to be a valuable addition to standard intervention for children with ASD who have motor and EF impairments.
C1 [Hilton, Claudia List] Univ Texas Med Branch, Occupat Therapy Dept, Galveston, TX 77555 USA.
[Cumpata, Kristina] Childrens Med Ctr, Dallas, TX 75235 USA.
[Klohr, Cheryl] Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA.
[Gaetke, Shannon] Coastal Therapy Serv, Charleston, SC USA.
[Artner, Amanda] Smile Pediat Therapy, Los Angeles, CA USA.
[Johnson, Hailey] Anderson Hosp, Maryville, IL USA.
[Dobbs, Sarah] St Joseph Med Ctr, Kansas City, MO USA.
RP Hilton, CL (reprint author), Univ Texas Med Branch, Occupat Therapy Dept, Galveston, TX 77555 USA.
EM clhilton@utmb.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 48
TC 3
Z9 3
PU AMER OCCUPATIONAL THERAPY ASSOC, INC
PI BETHESDA
PA 4720 MONTGOMERY LANE, BETHESDA, MD 20814-3425 USA
SN 0272-9490
EI 1943-7676
J9 AM J OCCUP THER
JI Am. J. Occup. Ther.
PD JAN-FEB
PY 2014
VL 68
IS 1
BP 57
EP 65
DI 10.5014/ajot.2014.008664
PG 9
WC Rehabilitation
SC Rehabilitation
GA 296CA
UT WOS:000330161500009
PM 24367956
ER
PT J
AU Suarez, MA
Atchison, BJ
Lagerwey, M
AF Suarez, Michelle A.
Atchison, Ben J.
Lagerwey, Mary
TI Phenomenological Examination of the Mealtime Experience for Mothers of
Children With Autism and Food Selectivity
SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY
LA English
DT Article
DE autistic disorder; feeding behavior; food habits; meals; mothers
ID SPECTRUM DISORDERS; PARENTS; STRESS
AB Many children within the autism population also have food selectivity, and it is not clear how this comorbid difficulty affects the mealtime experience for families. The purpose of this qualitative interview study was to gain an understanding of the mealtime experience of mothers of children with autism and food selectivity. The transcribed interviews were analyzed using a phenomenological approach. Mothers in this study described mealtime as difficult and stressful. Reasons for mealtime stress included the child's self-restricted diet and difficulty sitting at the table. The mothers described attempts to improve mealtime but little success. Implications of the findings are discussed in the context of the literature.
C1 [Suarez, Michelle A.; Atchison, Ben J.] Western Michigan Univ, Occupat Therapy Dept, Coll Hlth & Human Serv, Kalamazoo, MI 49008 USA.
[Lagerwey, Mary] Western Michigan Univ, Bronson Sch Nursing, Kalamazoo, MI 49008 USA.
RP Suarez, MA (reprint author), Western Michigan Univ, Occupat Therapy Dept, Coll Hlth & Human Serv, 3405 CHHS, Kalamazoo, MI 49008 USA.
EM michelle.a.suarez@wmich.edu
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NR 20
TC 2
Z9 2
PU AMER OCCUPATIONAL THERAPY ASSOC, INC
PI BETHESDA
PA 4720 MONTGOMERY LANE, BETHESDA, MD 20814-3425 USA
SN 0272-9490
EI 1943-7676
J9 AM J OCCUP THER
JI Am. J. Occup. Ther.
PD JAN-FEB
PY 2014
VL 68
IS 1
BP 102
EP 107
DI 10.5014/ajot.2014.008748
PG 6
WC Rehabilitation
SC Rehabilitation
GA 296CA
UT WOS:000330161500014
PM 24367961
ER
PT J
AU Razek, AA
Mazroa, J
Baz, H
AF Razek, Ahmed Abdel
Mazroa, Jehan
Baz, Hemmat
TI Assessment of white matter integrity of autistic preschool children with
diffusion weighted MR imaging
SO BRAIN & DEVELOPMENT
LA English
DT Article
DE Autism; Child; Diffusion; MR imaging
ID VOXEL-BASED MORPHOMETRY; SPECTRUM DISORDER; CORPUS-CALLOSUM;
YOUNG-CHILDREN; SCHIZOPHRENIA; BRAIN; ABNORMALITIES
AB The purpose was to assess white matter integrity of autistic preschool children with diffusion weighted MR imaging. Prospective study was carried on 19 autistic children (mean age 55.2 ms, IQ of 86.5) and 10 sex, age and IQ matched control (mean age 53.2 ms, IQ 84.5). The childhood Autism Rating Scale (CARS), social age and language age were calculated. Patients and controls underwent diffusion weighted MR imaging of the brain with b factor of 0, 500 and 1000 s/mm(2). The apparent diffusion coefficient (ADC) value at different regions of the white matter were calculated and correlated with CARS, social age and language age. There were significant differences at the ADC value of the white matter between autistic and control children at genu (P = 0.043), splenium (P = 0.003) of the corpus callosum, frontal white matter (P = 0.015) and temporal white matter (P = 0.020). There was positive correlation of CARS score with ADC value of the genu (r = 0.63, P = 0.001), splenium (r = 0.59, P = 0.005), frontal white matter (r = 0.81, P = 0.001) and temporal white matter (r = 0.74, P = 0.001). The social age well correlated with ADC value of the frontal white matter (r = 0.81, P = 0.001) and language age well correlated with ADC value of the temporal white matter (r = 0.78, P = 0.001). We concluded that ADC value can be helpful in assessment of integrity of the white matter in autistic preschool children and well correlated with CARS score, social age and language age. (C) 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
C1 [Razek, Ahmed Abdel; Mazroa, Jehan] Mansoura Fac Med, Dept Diagnost Radiol, Mansoura 13551, Egypt.
[Baz, Hemmat] Mansoura Fac Med, ENT Dept, Phonet Unit, Mansoura 13551, Egypt.
RP Razek, AA (reprint author), Mansoura Fac Med, Dept Diagnost Radiol, Mansoura 13551, Egypt.
EM arazek@mans.edu.eg
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NR 45
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0387-7604
EI 1872-7131
J9 BRAIN DEV-JPN
JI Brain Dev.
PD JAN
PY 2014
VL 36
IS 1
BP 28
EP 34
DI 10.1016/j.braindev.2013.01.003
PG 7
WC Clinical Neurology
SC Neurosciences & Neurology
GA 296BO
UT WOS:000330160300007
ER
PT J
AU Matsuoka, M
Nagamitsu, S
Iwasaki, M
Iemura, A
Yamashita, Y
Maeda, M
Kitani, S
Kakuma, T
Uchimura, N
Matsuishi, T
AF Matsuoka, Michiko
Nagamitsu, Shinichiro
Iwasaki, Mizue
Iemura, Akiko
Yamashita, Yushiro
Maeda, Masaharu
Kitani, Shingo
Kakuma, Tatsuyuki
Uchimura, Naohisa
Matsuishi, Toyojiro
TI High incidence of sleep problems in children with developmental
disorders: Results of a questionnaire survey in a Japanese elementary
school
SO BRAIN & DEVELOPMENT
LA English
DT Article
DE Sleep problem; Children; The Children's Sleep Habits Questionnaire;
Pervasive developmental disorder; Attention deficit hyperactivity
disorder; Developmental disorder
ID AUTISM SPECTRUM DISORDERS; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
HABITS QUESTIONNAIRE; DAYTIME SLEEPINESS; ASPERGER-SYNDROME; QUALITY
INDEX; CHILDHOOD; HYPERACTIVITY; SYMPTOMS; PARENTS
AB Objective: The aim of the present school-based questionnaire was to analyze the sleep problems of children with developmental disorders, such as pervasive developmental disorder and attention deficit hyperactivity disorder. Methods: The sleep problems of 43 children with developmental disorders were compared with those of 372 healthy children (control group). All children attended one public elementary school in Kurume, Japan; thus, the study avoided the potential bias associated with hospital-based surveys (i.e. a high prevalence of sleep disturbance) and provided a more complete picture of the children's academic performance and family situation compared with a control group under identical conditions. Children's sleep problems were measured with the Japanese version of the Children's Sleep Habits Questionnaire (CSHQ). Results: Children with developmental disorders had significantly higher total CSHQ scores, as well as mean scores on the parasomnias and sleep breathing subscales, than children in the control group. The total CSHQ score, bedtime resistance, sleep onset delay, and daytime sleepiness worsened with increasing age in children with developmental disorders; in contrast, these parameters were unchanged or became better with age in the control group. In children with developmental disorders, there was a significant association between a higher total CSHQ score and lower academic performance, but no such association was found in the control group. For both groups, children's sleep problems affected their parents' quality of sleep. There were no significant differences in physical, lifestyle, and sleep environmental factors, or in sleep/wake patterns, between the two groups. Conclusions: Children with developmental disorders have poor sleep quality, which may affect academic performance. It is important for physicians to be aware of age-related differences in sleep problems in children with developmental disorders. Further studies are needed to identify the association between sleep quality and school behavioral performance. (C) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
C1 [Matsuoka, Michiko; Nagamitsu, Shinichiro; Iwasaki, Mizue; Iemura, Akiko; Yamashita, Yushiro; Matsuishi, Toyojiro] Kurume Univ, Sch Med, Dept Pediat & Child Hlth, Kurume, Fukuoka 8300011, Japan.
[Matsuoka, Michiko; Maeda, Masaharu; Uchimura, Naohisa] Kurume Univ, Sch Med, Dept Neuropsychiat, Kurume, Fukuoka 830, Japan.
[Matsuoka, Michiko] Kurume Univ, Grad Sch Med, Dept Neuropsychiat, Kurume, Fukuoka 830, Japan.
[Kitani, Shingo] Kurume Univ, Grad Sch Med, Dept Biostat, Kurume, Fukuoka 830, Japan.
[Kakuma, Tatsuyuki] Kurume Univ, Ctr Biostat, Sch Med, Kurume, Fukuoka 830, Japan.
RP Matsuishi, T (reprint author), Kurume Univ, Sch Med, Dept Pediat & Child Hlth, 67 Asahi Machi, Kurume, Fukuoka 8300011, Japan.
EM tmatsu@med.kurume-u.ac.jp
FU Ministry of Education, Culture, Sports, Science, and Technology
[22591143]; NCNP [22-6]
FX This work was supported by a Grant from the Ministry of Education,
Culture, Sports, Science, and Technology (No. 22591143) and, in part, by
an Intramural Research Grant (22-6; Clinical Research for Diagnostic and
Therapeutic Innovations in Developmental Disorders) for Neurological and
Psychiatric Disorders of NCNP.
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NR 45
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0387-7604
EI 1872-7131
J9 BRAIN DEV-JPN
JI Brain Dev.
PD JAN
PY 2014
VL 36
IS 1
BP 35
EP 44
DI 10.1016/j.braindev.2013.12.004
PG 10
WC Clinical Neurology
SC Neurosciences & Neurology
GA 296BO
UT WOS:000330160300008
PM 23305729
ER
PT J
AU Stoner, CR
Stoner, JB
AF Stoner, Charles R.
Stoner, Julia B.
TI How can we make this work? Understanding and responding to working
parents of children with autism
SO BUSINESS HORIZONS
LA English
DT Article
DE Autism; Family-friendly workplace; Work-life balance; Organizational
culture; Parenting children disabilities and work
ID BEHAVIORAL-DISORDERS; ASPERGER-SYNDROME; DOWN-SYNDROME; DISABILITIES;
DIAGNOSIS; STRESS; FAMILIES; MOTHERS; TIME
AB As autism spectrum disorder (ASD) escalates in prevalence, organizations are likely to encounter employees whose lives are touched and reframed by this intense, pervasive, and lifelong condition. Families are dramatically affected as emotional and financial challenges are heightened. Employees want and need to remain productive members of their organizations, but some adjustments are necessary. However, little is known regarding the needs and expectations of employees whose children have been diagnosed with ASD. Even less is known about how organizations, managers, and co-workers can respond to provide sensitivity, maintain overall team equity, and ensure high-quality performance. This article reports the results of an in-depth study of working parents of children with ASD as they openly and candidly share perspectives on workplace needs and accommodations. Employees-adamant that performance expectations should not be mitigated discussed the support and the primary accommodation they sought: flexibility. Guides for both managers and co-workers are offered herein. (C) 2013 Kelley School of Business, Indiana University. Published by Elsevier Inc. All rights reserved.
C1 [Stoner, Charles R.] Bradley Univ, Dept Management & Leadership, Peoria, IL 61625 USA.
[Stoner, Julia B.] Illinois State Univ, Dept Special Educ, Normal, IL 61790 USA.
RP Stoner, CR (reprint author), Bradley Univ, Dept Management & Leadership, Peoria, IL 61625 USA.
EM crs@fsmail.bradley.edu; jbstone@ilstu.edu
CR Ashoka Organization, 2009, THORK SONN
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NR 37
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0007-6813
EI 1873-6068
J9 BUS HORIZONS
JI Bus. Horiz.
PD JAN-FEB
PY 2014
VL 57
IS 1
BP 85
EP 95
DI 10.1016/j.bushor.2013.10.002
PG 11
WC Business
SC Business & Economics
GA 295ZZ
UT WOS:000330156200010
ER
PT J
AU Ward, CS
AF Ward, Charles S.
TI Autism's cancer connection: The anti-proliferation hypothesis and why it
may matter
SO MEDICAL HYPOTHESES
LA English
DT Article
ID HISTONE DEACETYLASE INHIBITORS; TUMOR-NECROSIS-FACTOR; SEROTONIN
REUPTAKE INHIBITORS; DE-NOVO MUTATIONS; SPECTRUM DISORDERS; VALPROIC
ACID; DENDRITIC CELLS; FACTOR-ALPHA; ANTIDEPRESSANT SERTRALINE;
ANTICALMODULIN DRUGS
AB Autism remains an idiopathic disorder in 90% of cases. Recent prevalence, heritability, and genetic studies are suggestive that epigenetic and, therefore, environmental factors are important in autism pathogenesis. Among the environmental factors, only some uncommon viral infections and certain drugs have been conclusively linked to autism causation. Thalidomide, valproate, terbutaline and, most recently, antidepressants are the main drugs reported to elevate autism risk. This article discusses a phenomenal relationship between the drugs reported to elevate autism risk and the antiproliferative effects of the same drugs and/or analogs of the drugs in cancer cells.
Cancer treatment has entered a new era-epigenetic therapy. In cancer cell lines, thalidomide is anti-angiogenic and antiproliferative via suppression of tumor necrosis factor-alpha (TNF-alpha) and downstream effects on the nuclear factor (NF kappa B) cascade. Valproate shares similar mechanisms with thalidomide, but is best known in cancer therapy for its epigenetic effects as a histone deacetylase inhibitor. Terbutaline, a beta-adrenergic agonist, acts via adenylyl cyclase and cAMP-PKA signal transduction. Current cancer therapy aims to exploit this epigenetic pathway by developing site-selective cAMP analogs. Last, it has long been noted in preclinical studies that some antidepressants are antiproliferative in cancer cells but the mechanisms remain unclear.
Based on a systematic review of these drugs, it is hypothesized that all central nervous system-acting drugs, which show antiproliferative effects in cancer cell lines, share the potential to elevate autism risk when administered prenatally. It is further posited that, in autism, the drugs act as "triggers" that disturb the pro-proliferative fetal milieu using the same, mainly epigenetic, mechanisms that they demonstrate in rapidly proliferating cancer cells. In addition to their direct antiproliferative effects, evidence is suggestive that the drugs may lock in the pro-inflammatory bias of the prenatal immune system by preventing normal perinatal dendritic cell maturation.
This unifying hypothesis for how structurally different drugs elevate autism risk could help focus research on other drugs, or other xenobiotics, that may elevate autism risk. For example, there is evidence that an old class of drugs, the phenothiazines, is antiproliferative in cancer cell lines via inhibition of calmodulin and/or histaminic pathways. Promethazine, one of the first heterocyclic phenothiazines synthesized, is commonly prescribed during pregnancy; however, its role in elevating the risk of autism has not been investigated. Based on the anti-proliferation hypothesis, more studies of promethazine and other similar drugs are suggested to evaluate their potential to elevate autism risk following prenatal exposures. (C) 2013 Elsevier Ltd. All rights reserved.
C1 Fincastle Family Med, LaFolette, TN 37766 USA.
RP Ward, CS (reprint author), Fincastle Family Med, 541 Old Middlesboro Hwy, LaFolette, TN 37766 USA.
EM docward@comcast.net
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NR 161
TC 0
Z9 0
PU CHURCHILL LIVINGSTONE
PI EDINBURGH
PA JOURNAL PRODUCTION DEPT, ROBERT STEVENSON HOUSE, 1-3 BAXTERS PLACE,
LEITH WALK, EDINBURGH EH1 3AF, MIDLOTHIAN, SCOTLAND
SN 0306-9877
EI 1532-2777
J9 MED HYPOTHESES
JI Med. Hypotheses
PD JAN
PY 2014
VL 82
IS 1
BP 26
EP 35
DI 10.1016/j.mehy.2013.10.029
PG 10
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA 295WZ
UT WOS:000330148400007
PM 24275522
ER
PT J
AU Jaschke, AC
AF Jaschke, Artur C.
TI Music intervention as system: Reversing hyper systemising in autism
spectrum disorders to the comprehension of music as intervention
SO MEDICAL HYPOTHESES
LA English
DT Article
ID COGNITIVE-STYLE; SCERTS MODEL; CHILDREN; COMMUNICATION; MODULARITY; TOOL
AB This paper seeks to combine the notion of the Empathising-Systemising (E-S) theory and the resulting twist from the executive dysfunction theory in autism spectrum conditions (ASC) in light of music intervention as system.
To achieve these points it will be important to re-visit, nonetheless briefly, the above mentioned theories and re-define music intervention in the light of these.
Furthermore there is the need to adjust the executive dysfunction theory to a theory of dysfunctioning executive functions. These notions will create a different understanding of music intervention in this context, allowing the development of future and existing music intervention programs applied clinically. These applications will evolve around a structuralised approach to music intervention as system, proposing five consecutive systems. It will therefore argue the aspects of expanding existing theories in ASC together with the call for generalised interventions to better assess autism from a theoretical point of view. Theories have to be updated in a time of fast and ever-changing development. (C) 2013 Elsevier Ltd. All rights reserved.
C1 Vrije Univ Amsterdam, Dept Clin Neuropsychol, NL-1081 BT Amsterdam, Netherlands.
RP Jaschke, AC (reprint author), Vrije Univ Amsterdam, Dept Clin Neuropsychol, Van der Boechorststr 1, NL-1081 BT Amsterdam, Netherlands.
EM a.c.jaschke@vu.nl
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NR 75
TC 0
Z9 0
PU CHURCHILL LIVINGSTONE
PI EDINBURGH
PA JOURNAL PRODUCTION DEPT, ROBERT STEVENSON HOUSE, 1-3 BAXTERS PLACE,
LEITH WALK, EDINBURGH EH1 3AF, MIDLOTHIAN, SCOTLAND
SN 0306-9877
EI 1532-2777
J9 MED HYPOTHESES
JI Med. Hypotheses
PD JAN
PY 2014
VL 82
IS 1
BP 40
EP 48
DI 10.1016/j.mehy.2013.11.001
PG 9
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA 295WZ
UT WOS:000330148400009
PM 24280561
ER
PT J
AU Paszthy, B
Torzsok-Sonnevend, M
AF Paszthy Bea
Torzsok-Sonnevend Maria
TI The challenging heterogenity of anorexia nervosa Neurobiological risk
factors and possible endophenotypes
SO ORVOSI HETILAP
LA Hungarian
DT Article
DE anorexia nervosa; risk factors; neurobiology; endophenotype
ID AUTISM SPECTRUM DISORDERS; EATING-DISORDERS; BULIMIA-NERVOSA; SEROTONIN;
GENETICS; CHILDREN; CLASSIFICATION; EPIDEMIOLOGY; ADOLESCENTS; CHILDHOOD
AB Anorexia nervosa is a serious, chronical state of illness which often starts in childhood or adolescence and has serious consequences on the quality of life. This review focuses on the heterogenity of the disease with emphasis on special diagnostic implications in case of childhood onset. Research findings of the last decade showed that genetic and neurobiological vulnerabilities are at least as potent risk factors as psychological, family constellations and sociocultural preferences. The heritability of eating disorders levels those of diseases predominantly influenced by biological factors. The authors give a summary of the most investigated neurobiologic and neurocognitive factors which could be the fundaments of a biological vulnerablilty. To date, no common risk factor could be identified, but some existing adversities can clearly be related to distinct subgroups with the disorder. The concept of endo- and subphenotypes leads to more specific and more efficiant methods of therapy in other somatic and psychiatric diseases.
C1 [Paszthy Bea; Torzsok-Sonnevend Maria] Semmelweis Egyet, Altalanos Orvostud Kar, Gyermekgyogyaszati Klin 1, Gyermek & Ifjusagpszichiatriai Osztaly, Budapest, Hungary.
RP Paszthy, B (reprint author), Bokay J U 53, H-1086 Budapest, Hungary.
EM paszthy.bea@med.semmelweis-univ.hu
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NR 44
TC 0
Z9 0
PU AKADEMIAI KIADO RT
PI BUDAPEST
PA PRIELLE K U 19, PO BOX 245,, H-1117 BUDAPEST, HUNGARY
SN 0030-6002
EI 1788-6120
J9 ORVOSI HETILAP
JI Orvosi Hetilap
PD JAN
PY 2014
VL 155
IS 4
BP 124
EP 131
DI 10.1556/OH.2014.29812
PG 8
WC Medicine, General & Internal
SC General & Internal Medicine
GA 294JA
UT WOS:000330040300002
PM 24440724
ER
PT J
AU Carpenter, WT
AF Carpenter, William T.
TI Porous Diagnostic Boundaries: A New Emphasis for the Bulletin
SO SCHIZOPHRENIA BULLETIN
LA English
DT Editorial Material
DE diagnoses; bipolar; schizophrenia; autism
C1 Univ Maryland, Sch Med, Maryland Psychiat Res Ctr, Baltimore, MD 21228 USA.
RP Carpenter, WT (reprint author), Univ Maryland, Sch Med, Maryland Psychiat Res Ctr, POB 21247, Baltimore, MD 21228 USA.
EM wcarpent@mprc.umaryland.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Carpenter WT, 2009, PSYCHOL MED, V39, P2025, DOI 10.1017/S0033291709990286
Hyman Steven E, 2011, Cerebrum, V2011, P6
NR 3
TC 4
Z9 5
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0586-7614
EI 1745-1701
J9 SCHIZOPHRENIA BULL
JI Schizophr. Bull.
PD JAN
PY 2014
VL 40
IS 1
BP 1
EP 2
DI 10.1093/schbul/sbt164
PG 2
WC Psychiatry
SC Psychiatry
GA 292MF
UT WOS:000329905200001
PM 24371327
ER
PT J
AU Ferrari, PF
AF Ferrari, Pier F.
TI The neuroscience of social relations. A comparative-based approach to
empathy and to the capacity of evaluating others' action value
SO BEHAVIOUR
LA English
DT Article
DE mirror neurons; neuroeconomics; mimicry; embodiment; orbitofrontal
cortex
ID MIRROR-NEURON SYSTEM; AUTISM SPECTRUM DISORDERS; ORBITOFRONTAL CORTEX;
PREMOTOR CORTEX; FACIAL EXPRESSIONS; NEONATAL IMITATION; SHARED
MANIFOLD; PAIN; ORGANIZATION; MECHANISMS
AB One of the key questions in understanding human morality is how central are emotions in influencing our decisions and in our moral judgments. Theoretical work has proposed that empathy could play an important role in guiding our tendencies to behave altruistically or selfishly. Neurosciences suggest that one of the core elements of empathic behaviour in human and nonhuman primates is the capacity to internally mimic the behaviour of others, through the activation of shared motor representations. Part of the neural circuits involves parietal and premotor cortical regions (mirror system), in conjunction with other areas, such as the insula and the anterior cingulate cortex. Together with this embodied neural mechanism, there is a cognitive route in which individuals can evaluate the social situation without necessary sharing the emotional state of others. For example, several brain areas of the prefrontal cortex track the effects of one's own behaviour and of the value of one's own actions in social contexts. It is here proposed that, moral cognition could emerge as the consequence of the activity of emotional processing brain networks, probably involving mirror mechanisms, and of brain regions that, through abstract-inferential processing, evaluate the social context and the value of actions in terms of abstract representations. A comparative-based approach to the neurobiology of social relations and decision-making may explain how complex mental faculties, such as moral judgments, have their foundations in brain networks endowed with functions related to emotional and abstract-evaluation processing of goods. It is proposed that in primate evolution these brain circuits have been co-opted in the social domain to integrate mechanisms of self-reward, estimation of negative outcomes, with emotional engagement.
C1 Univ Parma, Dipartimento Neurosci, I-43100 Parma, Italy.
RP Ferrari, PF (reprint author), Univ Parma, Dipartimento Neurosci, I-43100 Parma, Italy.
EM pierfrancesco.ferrari@unipr.it
FU NIH [P01HD064653]
FX This research was supported by the NIH P01HD064653 grant. I would like
to thank Elizabeth Simpson for her comments on an early version of the
draft.
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NR 67
TC 1
Z9 1
PU BRILL ACADEMIC PUBLISHERS
PI LEIDEN
PA PLANTIJNSTRAAT 2, P O BOX 9000, 2300 PA LEIDEN, NETHERLANDS
SN 0005-7959
EI 1568-539X
J9 BEHAVIOUR
JI Behaviour
PY 2014
VL 151
IS 2-3
SI SI
BP 297
EP 313
DI 10.1163/1568539X-00003152
PG 17
WC Behavioral Sciences; Zoology
SC Behavioral Sciences; Zoology
GA 293OF
UT WOS:000329981200013
ER
PT J
AU Al Ageeli, E
Drunat, S
Delanoe, C
Perrin, L
Baumann, C
Capri, Y
Fabre-Teste, J
Aboura, A
Dupont, C
Auvin, S
El Khattabi, L
Chantereau, D
Moncla, A
Tabet, AC
Verloes, A
AF Al Ageeli, Essam
Drunat, Severine
Delanoe, Catherine
Perrin, Laurence
Baumann, Clarisse
Capri, Yline
Fabre-Teste, Jennifer
Aboura, Azzedine
Dupont, Celine
Auvin, Stephane
El Khattabi, Laila
Chantereau, Dominique
Moncla, Anne
Tabet, Anne-Claude
Verloes, Alain
TI Duplication of the 15q11-q13 region: Clinical and genetic study of 30
new cases
SO EUROPEAN JOURNAL OF MEDICAL GENETICS
LA English
DT Article
DE Developmental delay; Autism; invdup(15); Parental origin; Seizure; EEG
ID PRADER-WILLI-SYNDROME; STRUCTURALLY ABNORMAL CHROMOSOMES; DUP(15)
SUPERNUMERARY MARKER; AUTISM SPECTRUM DISORDERS; IN-SITU HYBRIDIZATION;
PROXIMAL 15Q; INTERSTITIAL DUPLICATIONS; MOLECULAR CHARACTERIZATION;
DEVELOPMENTAL DISORDER; CYTOGENETIC ANALYSIS
AB Background: 15q11-q13 region is an area of well-known susceptibility to genomic rearrangements, in which several breakpoints have been identified (BP1-BP5). Duplication of this region is observed in two instances: presence of a supernumerary marker chromosome (SMC) derived of chromosome 15, or interstitial tandem duplication. Duplications are clinically characterized by a variable phenotype that includes central hypotonia, developmental delay, speech delay, seizure, minor dysmorphic features and autism.
Methods: Retrospective clinical and molecular study of 30 unrelated patients who were identified among the patients seen at the genetic clinics of Robert DEBRE hospital with microduplication of the 15q11-q13 region.
Results: Fifteen patients presented with a supernumerary marker derived from chromosome 15. In fourteen cases the SMC was of large size, encompassing the Prader-Willi/Angelman critical region. All but one was maternal in origin. One patient had a PWS-like phenotype in absence of maternal UPD. In one case, the marker had a smaller size and contained only the BP1-BP2 region. Fifteen patients presented with interstitial duplication. Four cases were inherited from phenotypically normal parents (3 maternal and 1 paternal). Phenotypic features were somewhat variable and 57% presented with autism. Twelve patients showed cerebral anomalies and 18 patients had an abnormal EEG with a typical, recognizable pattern of excessive diffuse rapid spikes in the waking record, similar to the pattern observed after benzodiazepine exposure. Duplication of paternally expressed genes MKRN3, MAGEL2 and NDN in two autistic patients without extra material of a neighboring region enhances their likelihood to be genes related to autism. (C) 2013 Elsevier Masson SAS. All rights reserved.
C1 [Al Ageeli, Essam; Drunat, Severine; Perrin, Laurence; Baumann, Clarisse; Capri, Yline; Fabre-Teste, Jennifer; Aboura, Azzedine; Dupont, Celine; El Khattabi, Laila; Chantereau, Dominique; Tabet, Anne-Claude; Verloes, Alain] Robert Debre Univ Hosp, APHP, Dept Med Genet, Paris, France.
[Al Ageeli, Essam; Drunat, Severine; Perrin, Laurence; Baumann, Clarisse; Capri, Yline; Fabre-Teste, Jennifer; Aboura, Azzedine; Dupont, Celine; El Khattabi, Laila; Chantereau, Dominique; Tabet, Anne-Claude; Verloes, Alain] Univ Paris 07, Paris, France.
[Al Ageeli, Essam] Jazan Univ, Fac Med, Jazan, Saudi Arabia.
[Delanoe, Catherine] Robert Debre Hosp, AP HP, Dept Physiol, Paris, France.
[Auvin, Stephane] Robert Debre Hosp, AP HP, Dept Child Neurol, Paris, France.
[Moncla, Anne] La Timone Hosp, Dept Med Genet, Marseille, France.
[Verloes, Alain] Robert Debre Hosp, INSERM PROTECT UMR676, Paris, France.
RP Verloes, A (reprint author), Hop Robert Debre, Dept Genet, 48 Bd Serurier, F-75019 Paris, France.
EM alain.verloes@rdb.aphp.fr
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NR 50
TC 2
Z9 2
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 1769-7212
EI 1878-0849
J9 EUR J MED GENET
JI Eur. J. Med. Genet.
PD JAN
PY 2014
VL 57
IS 1
BP 5
EP 14
DI 10.1016/j.ejmg.2013.10.008
PG 10
WC Genetics & Heredity
SC Genetics & Heredity
GA 293LB
UT WOS:000329971500002
PM 24239951
ER
PT J
AU Parellada, M
Penzol, MJ
Pina, L
Moreno, C
Gonzalez-Vioque, E
Zalsman, G
Arango, C
AF Parellada, M.
Penzol, M. J.
Pina, L.
Moreno, C.
Gonzalez-Vioque, E.
Zalsman, G.
Arango, C.
TI The neurobiology of autism spectrum disorders
SO EUROPEAN PSYCHIATRY
LA English
DT Review
DE Autism; Neurodevelopment; Neuroscience
ID DE-NOVO MUTATIONS; PRINCIPAL PATHOGENETIC COMPONENTS; INCREASED
OXIDATIVE STRESS; INCREASED SERUM-LEVELS; RECEPTOR GENE OXTR; MALE BRAIN
THEORY; MITOCHONDRIAL DYSFUNCTION; PSYCHIATRIC-DISORDERS; DNA
HYPOMETHYLATION; AUTOIMMUNE-DISEASES
AB Data is progressively and robustly accumulating regarding the biological basis of autism. Autism spectrum disorders (ASD) are currently considered a group of neurodevelopmental disorders with onset very early in life and a complex, heterogeneous, multifactorial aetiology. A comprehensive search of the last five years of the Medline database was conducted in order to summarize recent evidence on the neurobiological bases of autism. The main findings on genetic influence, neuropathology, neurostructure and brain networks are summarized. In addition, findings from peripheral samples of subjects with autism and animal models, which show immune, oxidative, mitochondrial dysregulations, are reported. Then, other biomarkers from very different systems associated with autism are reported. Finally, an attempt is made to try and integrate the available evidence, which points to a oligogenetic, multifactorial aetiology that converges in an aberrant micro-organization of the cortex, with abnormal functioning of the synapses and abnormalities in very general physiological pathways (such as inflammatory, immune and redox systems). (C) 2013 Published by Elsevier Masson SAS.
C1 [Parellada, M.; Penzol, M. J.; Pina, L.; Moreno, C.; Gonzalez-Vioque, E.; Arango, C.] Univ Gregorio Maranon, Gen Hosp, Inst Invest Sanitaria Gregorio Maranon, Child & Adolescent Psychiat Dept,IiSGM,CIBERSAM, Madrid 28009, Spain.
[Zalsman, G.] Geha Hosp, IL-49100 Tel Aviv, Israel.
RP Parellada, M (reprint author), Univ Gregorio Maranon, Gen Hosp, Inst Invest Sanitaria Gregorio Maranon, Child & Adolescent Psychiat Dept,IiSGM,CIBERSAM, Ibiza 43, Madrid 28009, Spain.
EM parellada@hggm.es
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NR 131
TC 6
Z9 7
PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
PI PARIS
PA 23 RUE LINOIS, 75724 PARIS, FRANCE
SN 0924-9338
EI 1778-3585
J9 EUR PSYCHIAT
JI Eur. Psychiat.
PD JAN
PY 2014
VL 29
IS 1
BP 11
EP 19
DI 10.1016/j.eurpsy.2013.02.005
PG 9
WC Psychiatry
SC Psychiatry
GA 293BC
UT WOS:000329945400002
PM 24275633
ER
PT J
AU Sugiura, M
AF Sugiura, Motoaki
TI Neuroimaging studies on recognition of personally familiar people
SO FRONTIERS IN BIOSCIENCE-LANDMARK
LA English
DT Article
DE Face; Familiar; fMRI; Long-term memory; Name; Recognition; Review
ID SELF-FACE RECOGNITION; POSITRON-EMISSION-TOMOGRAPHY; AUTISM SPECTRUM
DISORDERS; EVENT-RELATED FMRI; NEURAL BASIS; ROMANTIC LOVE; FUNCTIONAL
NEUROANATOMY; ORBITOFRONTAL CORTEX; BRAIN RESPONSES; AUTOBIOGRAPHICAL
MEMORY
AB From an evolutionary viewpoint, readiness to engage in appropriate behavior toward a recognized person seems to be inherent in the human brain. In support of this hypothesis, functional neuroimaging studies have demonstrated activation in regions relevant to relationship-appropriate behavior during the recognition of personally familiar (PF) people. Recognition of friends and colleagues activates regions involved in real-time communication, including the regions for inference about the other's mental state, autobiographical memory retrieval, and self-referential processes. Recognition of people related by romantic love, maternal love, and lost love induces activation in regions involved in motivational, reward, and affective processes, reflecting behavioral readiness for mating, caretaking, and yearning, respectively. The involvement of motor-associated cortices during recognition of a personal enemy may reflect readiness for attack or defense. Self-recognition in a body-related modality uniquely activates sensory and motor association cortices reflecting the sensorimotor origin of the bodily self-concept, with social cognitive processes being suppressed or context dependent. Issues and future directions are also discussed.
C1 [Sugiura, Motoaki] Tohoku Univ, Inst Dev Aging & Canc, Aoba Ku, Sendai, Miyagi 9808575, Japan.
[Sugiura, Motoaki] Tohoku Univ, Int Res Inst Disaster Sci, Aoba Ku, Sendai, Miyagi 9808575, Japan.
RP Sugiura, M (reprint author), Tohoku Univ, Inst Dev Aging & Canc, Dept Funct Brain Imaging, Aoba Ku, Seiryo Machi 4-1, Sendai, Miyagi 9808575, Japan.
EM motoaki@idac.tohoku.ac.jp
FU MEXT [25101702]
FX Preparation of this manuscript was supported in part by KAKENHI 25101702
(MEXT).
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NR 109
TC 1
Z9 1
PU FRONTIERS IN BIOSCIENCE INC
PI IRVINE
PA 16471 SCIENTIFIC WAY, IRVINE, CA 92618 USA
SN 1093-9946
EI 1093-4715
J9 FRONT BIOSCI-LANDMRK
JI Front. Biosci.
PD JAN 1
PY 2014
VL 19
BP 672
EP 686
DI 10.2741/4235
PG 15
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA 294FR
UT WOS:000330029200007
PM 24389212
ER
PT J
AU Stilling, RM
Dinan, TG
Cryan, JF
AF Stilling, R. M.
Dinan, T. G.
Cryan, J. F.
TI Microbial genes, brain & behaviour - epigenetic regulation of the
gut-brain axis
SO GENES BRAIN AND BEHAVIOR
LA English
DT Review
DE Anxiety; cognition; depression; epigenetics; germ-free; Gut; HDAC;
histone modification; hologenome; learning; microbiome; microbiota;
nucleomodulin; probiotic; stress
ID AUTISM SPECTRUM DISORDERS; IRRITABLE-BOWEL-SYNDROME; PROBIOTIC
BIFIDOBACTERIUM-INFANTIS; HISTONE-DEACETYLASE ACTIVITY; INTESTINAL
BARRIER FUNCTION; MESSENGER-RNA SYNTHESIS; CENTRAL-NERVOUS-SYSTEM;
ANXIETY-LIKE BEHAVIOR; LONG NONCODING RNAS; MATERNAL SEPARATION
AB To date, there is rapidly increasing evidence for host-microbe interaction at virtually all levels of complexity, ranging from direct cell-to-cell communication to extensive systemic signalling, and involving various organs and organ systems, including the central nervous system. As such, the discovery that differential microbial composition is associated with alterations in behaviour and cognition has significantly contributed to establishing the microbiota-gut-brain axis as an extension of the well-accepted gut-brain axis concept. Many efforts have been focused on delineating a role for this axis in health and disease, ranging from stress-related disorders such as depression, anxiety and irritable bowel syndrome to neurodevelopmental disorders such as autism. There is also a growing appreciation of the role of epigenetic mechanisms in shaping brain and behaviour. However, the role of epigenetics in informing host-microbe interactions has received little attention to date. This is despite the fact that there are many plausible routes of interaction between epigenetic mechanisms and the host-microbiota dialogue. From this new perspective we put forward novel, yet testable, hypotheses. Firstly, we suggest that gut-microbial products can affect chromatin plasticity within their host's brain that in turn leads to changes in neuronal transcription and eventually alters host behaviour. Secondly, we argue that the microbiota is an important mediator of gene-environment interactions. Finally, we reason that the microbiota itself may be viewed as an epigenetic entity. In conclusion, the fields of (neuro)epigenetics and microbiology are converging at many levels and more interdisciplinary studies are necessary to unravel the full range of this interaction.
C1 [Stilling, R. M.; Dinan, T. G.; Cryan, J. F.] Natl Univ Ireland Univ Coll Cork, Alimentary Pharmabiot Ctr, Cork, Ireland.
[Dinan, T. G.] Natl Univ Ireland Univ Coll Cork, Dept Psychiat, Cork, Ireland.
[Cryan, J. F.] Natl Univ Ireland Univ Coll Cork, Dept Anat & Neurosci, Cork, Ireland.
RP Cryan, JF (reprint author), Natl Univ Ireland Univ Coll Cork, Dept Anat & Neurosci, Western Gateway Bldg, Cork, Ireland.
EM j.cryan@ucc.ie
RI Stilling, Roman/C-1497-2013
OI Stilling, Roman/0000-0001-7637-5851
FU Science Foundation Ireland, centre grant (Alimentary Pharmabiotic
Centre) [SFI/12/RC/2273]; Health Research Board of Ireland
FX The authors are supported, in part, by Science Foundation Ireland in the
form of a centre grant (Alimentary Pharmabiotic Centre) under Grant
Number SFI/12/RC/2273 and by the Health Research Board of Ireland.
T.G.D. has until recently been on the Board of Alimentary Health and
both T.G.D. and J.F.C. have been on the Speakers Bureau for Mead
Johnson.
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NR 186
TC 26
Z9 27
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1601-1848
EI 1601-183X
J9 GENES BRAIN BEHAV
JI Genes Brain Behav.
PD JAN
PY 2014
VL 13
IS 1
BP 69
EP 86
DI 10.1111/gbb.12109
PG 18
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 282HG
UT WOS:000329160500007
PM 24286462
ER
PT J
AU Beers, AN
McBoyle, M
Kakande, E
Santos, RCD
Kozak, FK
AF Beers, Alison N.
McBoyle, Melanie
Kakande, Emily
Santos, Rachelle C. Dar
Kozak, Frederick K.
TI Autism and peripheral hearing loss: A systematic review
SO INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
LA English
DT Review
DE Autism; Hearing loss; Hearing aids; Cochlear implant;
Hyper-responsiveness; Hyperacusis
ID STEM EVOKED-RESPONSES; YOUNG-CHILDREN; OTOACOUSTIC EMISSIONS; TYPICAL
DEVELOPMENT; SPECTRUM DISORDER; NOTCHED NOISE; THRESHOLDS; TONES
AB Objective: To systematically review the literature describing the relationship between autism spectrum disorder (ASD) and peripheral hearing loss including literature recommendations for audiological assessment and auditory habilitation in cases where peripheral hearing loss and ASD coexist.
Data sources: Published studies indexed in MEDLINE (1948-2011).
Review methods: The search strategy identified 595 potential studies. After a review of the titles, 115 abstracts were reviewed and 39 articles were retrieved and assessed independently by at least two authors for possible inclusion. 22 articles pertained to children with ASD and peripheral hearing loss, hearing assessment in children with ASD, audiological habilitation for children with ASD or hyper-responsiveness in children with ASD. 17 further studies were garnered from the reference section of the 22 papers.
Results: Controversy exists in the literature regarding prevalence of hearing impairment among individuals with ASD. In cases where ASD and hearing impairment co-exist, diagnosis of one condition often leads to a delay in diagnosing the other. Audiological assessment can be difficult in children with ASD and test-retest reliability of behavioural thresholds can be poor. In cases where hearing impairment exists and hearing aids or cochlear implantation are recommended, devices are often fit with special considerations for the child with ASD. Hyper-responsiveness to auditory stimuli may be displayed by individuals with ASD. Evidence or the suspicion of hyper-responsiveness may be taken into consideration when fitting amplification and planning behavioural intervention.
Conclusions: Prevalence rates of hearing impairment among individuals with ASD continue to be debated. At present there is no conclusive evidence that children with ASD are at increased risk of peripheral hearing loss. A complete audiological assessment is recommended in all cases where ASD is suspected so as not to delay the diagnosis of hearing impairment in the event that hearing loss and ASD co-exist. Objective assessment measures should be used to confirm behavioural testing in order to ensure reliability of audiological test results. Fitting of hearing aids or cochlear implantation are not contraindicated when hearing loss is present in children with ASD; however, success with these devices can be variable. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
C1 [Beers, Alison N.] BC Childrens & Womens Hosp, Dept Audiol, Vancouver, BC, Canada.
[McBoyle, Melanie; Kakande, Emily; Santos, Rachelle C. Dar; Kozak, Frederick K.] BC Childrens & Womens Hosp, Dept Surg, Div Pediat Otolaryngol, Vancouver, BC, Canada.
RP Kozak, FK (reprint author), British Columbia Childrens Hosp, Div Pediat Otolaryngol, ACB, K2-184,4480 Oak St, Vancouver, BC V6H 3V4, Canada.
EM fkozak@cw.bc.ca
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NR 39
TC 1
Z9 1
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-5876
EI 1872-8464
J9 INT J PEDIATR OTORHI
JI Int. J. Pediatr. Otorhinolaryngol.
PD JAN
PY 2014
VL 78
IS 1
BP 96
EP 101
DI 10.1016/j.ijporl.2013.10.063
PG 6
WC Otorhinolaryngology; Pediatrics
SC Otorhinolaryngology; Pediatrics
GA 293GJ
UT WOS:000329959100021
PM 24300947
ER
PT J
AU Meinzen-Derr, J
Wiley, S
Bishop, S
Manning-Courtney, P
Choo, DI
Murray, D
AF Meinzen-Derr, Jareen
Wiley, Susan
Bishop, Somer
Manning-Courtney, Patricia
Choo, Daniel I.
Murray, Donna
TI Autism spectrum disorders in 24 children who are deaf or hard of hearing
SO INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
LA English
DT Article
DE Autism; ASD; Deaf; Hard of hearing; Hearing loss
ID COCHLEAR IMPLANTS; LANGUAGE-DEVELOPMENT; DEVELOPMENTAL DISORDERS;
DIAGNOSTIC INTERVIEW; YOUNG-CHILDREN; IDENTIFICATION; INTERVENTION;
DISABILITIES; AGE; SURVEILLANCE
AB Objectives: Approximately 4% of children who are deaf or hard of hearing have co-occurring autism spectrum disorder (ASD). Making an additional diagnosis of ASD in this population can be challenging, given the complexities of determining whether speech/language and social delays can be accounted for by their hearing loss, or whether these delays might be indicative of a comorbid ASD diagnosis. This exploratory study described a population of 24 children with the dual diagnosis of ASD and hearing loss.
Methods: Children completed a comprehensive ASD evaluation using standardized autism diagnostic instruments (Autism Diagnostic Observation Schedule, language and psychological testing). Children with permanent hearing loss who had a developmental evaluation between 2001 and 2011 and were diagnosed with an ASD based on the results of that evaluation were included. Information on communication modality, language and cognitive abilities was collected.
Results: The median age of diagnosis was 14 months (range 1-71) for hearing loss and 66.5 months (range 33-106) for ASD. Only 25% (n = 6) children were diagnosed with ASD <= 48 months of age and 46% by <= 6 years. Twelve (50%) children were diagnosed with ASD, 11 were diagnosed with pervasive developmental disorder not otherwise specified and 1 child had Asperger's. Most (67%) had profound degree of hearing loss. Fourteen (58%) children had received a cochlear implant, while 3 children had no amplification for hearing loss. Nine (38%) of the 24 children used speech as their mode of communication (oral communicators).
Conclusions: Communication delays in children who are deaf or hard of hearing are a serious matter and should not be assumed to be a direct consequence of the hearing loss. Children who received cochlear implants completed a multidisciplinary evaluation including a developmental pediatrician, which may have provided closer monitoring of speech and language progression and subsequently an earlier ASD diagnosis. Because children who are deaf or hard of hearing with ASD are challenging to evaluate, they may receive a diagnosis of ASD at older ages. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
C1 [Meinzen-Derr, Jareen] Cincinnati Childrens Hosp Med Ctr, Div Biostat, Cincinnati, OH 45229 USA.
[Meinzen-Derr, Jareen] Cincinnati Childrens Hosp Med Ctr, Div Epidemiol, Cincinnati, OH 45229 USA.
[Meinzen-Derr, Jareen; Wiley, Susan; Manning-Courtney, Patricia; Choo, Daniel I.; Murray, Donna] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA.
[Bishop, Somer] Weill Cornell Med Coll, Dept Psychiat, New York, NY USA.
RP Meinzen-Derr, J (reprint author), Cincinnati Childrens Hosp Med Ctr, 3333 Burnet Ave MLC 5041, Cincinnati, OH 45229 USA.
EM jareen.meinzen-derr@cchmc.org
FU Maternal and Child Health Research Program, Maternal and Child Health
Bureau (Title V, Social Security Act), Health Resources and Services
Administration, Department of Health and Human Services [R40MC21513]
FX This study was supported by grant R40MC21513 from the Maternal and Child
Health Research Program, Maternal and Child Health Bureau (Title V,
Social Security Act), Health Resources and Services Administration,
Department of Health and Human Services. The funding source had no
involvement in the study design, collection, analysis, or writing of the
manuscript.
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NR 50
TC 5
Z9 5
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-5876
EI 1872-8464
J9 INT J PEDIATR OTORHI
JI Int. J. Pediatr. Otorhinolaryngol.
PD JAN
PY 2014
VL 78
IS 1
BP 112
EP 118
PG 7
WC Otorhinolaryngology; Pediatrics
SC Otorhinolaryngology; Pediatrics
GA 293GJ
UT WOS:000329959100024
PM 24290951
ER
PT J
AU Khor, AS
Gray, KM
Reid, SC
Melvin, GA
AF Khor, Angela S.
Gray, Kylie M.
Reid, Sophie C.
Melvin, Glenn A.
TI Feasibility and validity of ecological momentary assessment in
adolescents with high-functioning autism and Asperger's disorder
SO JOURNAL OF ADOLESCENCE
LA English
DT Article
DE Ecological momentary assessment; Autism spectrum disorder
ID RANDOMIZED CONTROLLED-TRIAL; SPECTRUM DISORDERS; EMOTIONAL-PROBLEMS;
COPING STYLE; CHILDREN; STRESS; CONCEPTUALIZATION; INDIVIDUALS;
DEPRESSION; EXPERIENCE
AB Ecological Momentary Assessment (EMA) may increase accuracy of data compared with retrospective questionnaires by assessing behaviours as they occur, hence decreasing recall biases and increasing ecological validity. This study examined the feasibility and concurrent validity of an EMA tool for adolescents with High-Functioning Autism Spectrum Disorders (HFASD). Thirty-one adolescents with HFASD completed a mobile phone EMA application that assessed stressors and coping for two weeks. Parents and adolescents also completed retrospective measures of the adolescent's coping/stressors. Moderate compliance with the EMA tool was achieved and some concurrent validity was established with the retrospective measure of coping. Concordance was found between the types of stressors reported by parents and adolescents but not the quantity. The results suggest adolescents with HFASD are capable of reporting on their stressors and coping via EMA. EMA has the potential to be a valuable research tool in this population. (C) 2013 The Foundation for Professionals in Services for Adolescents. Published by Elsevier Ltd. All rights reserved.
C1 [Khor, Angela S.; Gray, Kylie M.; Melvin, Glenn A.] Monash Univ, Ctr Dev Psychiat & Psychol, Sch Psychol & Psychiat, Clayton, Vic 3800, Australia.
[Reid, Sophie C.] Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia.
RP Melvin, GA (reprint author), Monash Univ, Ctr Dev Psychiat & Psychol, Sch Psychol & Psychiat, Clayton, Vic 3800, Australia.
EM Angela.khor@gmail.com; Kylie.gray@monash.edu; Sophie.reid@mcri.edu.au;
Glenn.melvin@monash.edu
RI Gray, Kylie/H-3345-2014
OI Gray, Kylie/0000-0001-6518-4240
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NR 47
TC 1
Z9 1
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 0140-1971
EI 1095-9254
J9 J ADOLESCENCE
JI J. Adolesc.
PD JAN
PY 2014
VL 37
IS 1
BP 37
EP 46
DI 10.1016/j.adolescence.2013.10.005
PG 10
WC Psychology, Developmental
SC Psychology
GA 293ZS
UT WOS:000330012800005
PM 24331303
ER
PT J
AU Burka, SD
Van Cleve, SN
Shafer, S
Barkin, JL
AF Burka, Stacy D.
Van Cleve, Susan N.
Shafer, Sheree
Barkin, Jennifer L.
TI Integration of Pediatric Mental Health Care: An Evidence-Based Workshop
for Primary Care Providers
SO JOURNAL OF PEDIATRIC HEALTH CARE
LA English
DT Article
DE Mental health integration; primary care; pediatric mental health;
workshop
ID SUPPLEMENT NCS-A; ADOLESCENT PSYCHIATRISTS; SPACED EDUCATION; CHILDREN;
DISORDERS; AUTISM; TRIAL
AB Introduction: Pediatric primary care providers (PCPs) are being asked to care for children with mental health (MH) disorders but cite inadequate training as a barrier. An intensive workshop may improve the PCPs' level of knowledge and lead to an increase in quality care for children with MH disorders. We compared pediatric PCPs' knowledge, comfort, and practice in the evaluation and management of pediatric patients with attention deficit-hyperactivity disorder, depression, anxiety, and autism spectrum disorders before and after a 2-day educational workshop.
Method: Study participants (n = 30) were recruited from rural areas of Pennsylvania. A pre-and posttest design was used. A 15-question multiple choice knowledge test and a 19-question survey of comfort and practice were administered before and after the workshop.
Results: The mean knowledge test number correct increased from 9.19 before the workshop to 12.23 after the workshop (p <.0001). Survey scores increased from 34.6 before the workshop to 44.14 after the workshop (p <.0001).
Discussion: Intensive workshops may be an effective method of training PCPs on provision of MH care in pediatric primary care practice.
C1 [Burka, Stacy D.] Interim HealthCare, Pittsburgh, PA USA.
[Van Cleve, Susan N.] Robert Morris Univ, Sch Nursing & Hlth Sci, Moon Township, PA USA.
[Shafer, Sheree] Childrens Community Care Armstrong Pediat, Kittanning, PA USA.
[Barkin, Jennifer L.] Mercer Univ, Sch Med, Macon, GA 31207 USA.
RP Burka, SD (reprint author), 134 Merry Lane, Butler, PA 16001 USA.
EM sdbst14@mail.rmu.edu
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Thomas CR, 2006, J AM ACAD CHILD PSY, V45, P1023, DOI 10.1097/01.chi.0000225353.16831.5d
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United States Department of Health and Human Services, 2010, MENT HLTH MENT DIS
United States Department of Health and Human Services, 2012, FIND SHORT AR MUA P
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NR 50
TC 1
Z9 1
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0891-5245
EI 1532-656X
J9 J PEDIATR HEALTH CAR
JI J. Pediatr. Health Care
PD JAN-FEB
PY 2014
VL 28
IS 1
BP 23
EP 34
DI 10.1016/j.pedhc.2012.10.006
PG 12
WC Health Policy & Services; Nursing; Pediatrics
SC Health Care Sciences & Services; Nursing; Pediatrics
GA 290UK
UT WOS:000329783600007
PM 23651700
ER
PT J
AU Walsh, S
Horgan, J
May, RJ
Dymond, S
Whelan, R
AF Walsh, Sinead
Horgan, Jennifer
May, Richard J.
Dymond, Simon
Whelan, Robert
TI FACILITATING RELATIONAL FRAMING IN CHILDREN AND INDIVIDUALS WITH
DEVELOPMENTAL DELAY USING THE RELATIONAL COMPLETION PROCEDURE
SO JOURNAL OF THE EXPERIMENTAL ANALYSIS OF BEHAVIOR
LA English
DT Article
DE derived relational responding; relational completion procedure; autism
spectrum disorder; mouse click; touch screen; humans
ID EQUIVALENCE; TRANSFORMATION; ACCORDANCE; OPERANT
AB The Relational Completion Procedure is effective for establishing same, opposite and comparative derived relations in verbally able adults, but to date it has not been used to establish relational frames in young children or those with developmental delay. In Experiment 1, the Relational Completion Procedure was used with the goal of establishing two 3-member sameness networks in nine individuals with Autism Spectrum Disorder (eight with language delay). A multiple exemplar intervention was employed to facilitate derived relational responding when required. Seven of nine participants in Experiment 1 passed tests for derived relations. In Experiment 2, eight participants (all of whom, except one, had a verbal repertoire) were given training with the aim of establishing two 4-member sameness networks. Three of these participants were typically developing young children aged between 5 and 6 years old, all of whom demonstrated derived relations, as did four of the five participants with developmental delay. These data demonstrate that it is possible to reliably establish derived relations in young children and those with developmental delay using an automated procedure.
C1 [Walsh, Sinead; Horgan, Jennifer] Univ Dublin Trinity Coll, Dublin 2, Ireland.
[May, Richard J.; Dymond, Simon] Swansea Univ, Swansea, W Glam, Wales.
[Whelan, Robert] Univ Coll Dublin, Belfield Dublin 4, Ireland.
RP Whelan, R (reprint author), Univ Coll Dublin, Dept Psychol, Belfield Dublin 4, Ireland.
EM whelanrob@gmail.com
RI Dymond, Simon/D-8503-2014
OI Dymond, Simon/0000-0003-1319-4492
FU Autism Speaks Treatment Grant [8049]
FX This research was partially supported by an Autism Speaks Treatment
Grant (#8049) awarded to Simon Dymond.
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NR 24
TC 1
Z9 1
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 JAN
PY 2014
VL 101
IS 1
BP 51
EP 60
DI 10.1002/jeab.66
PG 10
WC Psychology, Biological; Behavioral Sciences; Psychology, Experimental
SC Psychology; Behavioral Sciences
GA 290FM
UT WOS:000329739800005
PM 24338682
ER
PT J
AU Hayes, SC
Sanford, BT
AF Hayes, Steven C.
Sanford, Brandon T.
TI COOPERATION CAME FIRST: EVOLUTION AND HUMAN COGNITION
SO JOURNAL OF THE EXPERIMENTAL ANALYSIS OF BEHAVIOR
LA English
DT Article
DE relational frame theory; language; evolution; symmetry; cooperation;
eusociality
ID CHIMPANZEES PAN-TROGLODYTES; EQUIVALENCE CLASS FORMATION; AUTISM
SPECTRUM DISORDER; RELATIONAL FRAME-THEORY; TASTE-AVERSION; MEMORY
FORMATION; YOUNG-CHILDREN; SELECTION; LANGUAGE; COMPREHENSION
AB Contextual behavioral perspectives on learning and behavior reside under the umbrella of evolution science. In this paper we briefly review current developments in evolution science that bear on learning and behavior, concluding that behavior is now moving to the center of evolution studies. Learning is one of the main ladders of evolution by establishing functional benchmarks within which genetic adaptations can be advantaged. We apply that approach to the beginning feature of human cognition according to Relational Frame Theory: derived symmetry in coordination framing. When combined with the idea that cooperation came before major advances in human cognition or culture, existing abilities in social referencing, joint attention, perspective-taking skills, and relational learning ensure that the behavioral subcomponents of symmetrical equivalence relations would be reinforced. When coordination framing emerged and came under arbitrary contextual control as an operant class, a template was established for the development of multiple relational frames and the emergence and evolutionary impact of human cognition as we know it. Implications of these ideas for translational research are briefly discussed.
C1 [Hayes, Steven C.; Sanford, Brandon T.] Univ Nevada, Reno, NV 89557 USA.
RP Hayes, SC (reprint author), Univ Nevada, Dept Psychol 296, Reno, NV 89557 USA.
EM stevenchayes@gmail.com
RI Hayes, Steven/F-9306-2012
OI Hayes, Steven/0000-0003-4399-6859
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NR 147
TC 2
Z9 2
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 JAN
PY 2014
VL 101
IS 1
BP 112
EP 129
DI 10.1002/jeab.64
PG 18
WC Psychology, Biological; Behavioral Sciences; Psychology, Experimental
SC Psychology; Behavioral Sciences
GA 290FM
UT WOS:000329739800009
PM 24318964
ER
PT J
AU Castren, ML
Castren, E
AF Castren, Maija L.
Castren, Eero
TI BDNF in fragile X syndrome
SO NEUROPHARMACOLOGY
LA English
DT Review
DE FMRP; Fmr1 gene; Mental retardation; Autism; Circuit function; Neural
progenitors; Differentiation
ID MENTAL-RETARDATION PROTEIN; FMR1 KNOCKOUT MICE; NEURAL PROGENITOR CELLS;
DENDRITIC MESSENGER-RNA; KINASE-B RECEPTOR; NEUROTROPHIC FACTOR; MOUSE
MODEL; BEHAVIORAL-PHENOTYPE; SYNAPTIC PLASTICITY; CEREBRAL-CORTEX
AB Fragile X syndrome (FXS) is a monogenic disorder that is caused by the absence of FMR1 protein (FMRP). FXS serves as an excellent model disorder for studies investigating disturbed molecular mechanisms and synapse function underlying cognitive impairment, autism, and behavioral disturbance. Abnormalities in dendritic spines and synaptic transmission in the brain of FXS individuals and mouse models for FXS indicate perturbations in the development, maintenance, and plasticity of neuronal network connectivity. However, numerous alterations are found during the early development in FXS, including abnormal differentiation of neural progenitors and impaired migration of newly born neurons. Several aspects of FMRP function are modulated by brain-derived neurotrophic factor (BDNF) signaling. Here, we review the evidence of the role for BDNF in the developing and adult FXS brain. This article is part of the Special Issue entitled `BDNF Regulation of Synaptic Structure, Function, and Plasticity'. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Castren, Maija L.] Univ Helsinki, Inst Biomed Physiol, FIN-00014 Helsinki, Finland.
[Castren, Maija L.] Rinnekoti Fdn, FIN-02980 Espoo, Finland.
[Castren, Eero] Univ Helsinki, Ctr Neurosci, FIN-00014 Helsinki, Finland.
RP Castren, ML (reprint author), Univ Helsinki, Inst Biomed Physiol, POB 63,Haartmaninkatu 8, FIN-00014 Helsinki, Finland.
EM Maija.Castren@helsinki.fi
FU Academy of Finland; Juselius Foundation; Finnish Brain Foundation
FX The original research was supported by the Academy of Finland, the
Juselius Foundation and the Finnish Brain Foundation.
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NR 121
TC 8
Z9 9
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3908
EI 1873-7064
J9 NEUROPHARMACOLOGY
JI Neuropharmacology
PD JAN
PY 2014
VL 76
SI SI
BP 729
EP 736
DI 10.1016/j.neuropharm.2013.05.018
PN 2
PG 8
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA 294YM
UT WOS:000330083800013
PM 23727436
ER
PT J
AU Musante, L
Ropers, HH
AF Musante, Luciana
Ropers, H. Hilger
TI Genetics of recessive cognitive disorders
SO TRENDS IN GENETICS
LA English
DT Review
DE autosomal recessive ID; homozygosity mapping; next-generation
sequencing; healthcare
ID LINKED MENTAL-RETARDATION; DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS;
INTELLECTUAL-DISABILITY; BINDING-PROTEIN; CONSANGUINEOUS MARRIAGE;
TRUNCATING MUTATION; SEQUENCING REVEALS; NEXT-GENERATION; TUSC3 GENE
AB Most severe forms of intellectual disability (ID) have specific genetic causes.. Numerous X chromosome gene defects and disease-causing copy-number variants have been linked to ID and related disorders, and recent studies have revealed that sporadic cases are often due to dominant de novo mutations with low recurrence risk. For autosomal recessive ID (ARID) the recurrence risk is high and, in populations with frequent parental consanguinity, ARID is the most common form of ID. Even so, its elucidation has lagged behind. Here we review recent progress in this field, show that ARID is not rare even in outbred Western populations, and discuss the prospects for improving its diagnosis and prevention.
C1 [Musante, Luciana; Ropers, H. Hilger] Max Planck Inst Mol Genet, D-14195 Berlin, Germany.
RP Ropers, HH (reprint author), Max Planck Inst Mol Genet, Ihnestr 73, D-14195 Berlin, Germany.
EM ropers@molgen.mpg.de
FU Max Planck Society; European Commission [241995]
FX We thank Hossein Najmabadi and Kimia Kahrizi, Hao Hu, Masoud Garshasbi,
Andreas Kuss, Wei Chen, and Thomas Wienker for their essential
contributions to our past and ongoing ARID research, and Gabriele Eder
for help with the preparation of the manuscript. This work was supported
by the Max Planck Society and by the European Commission Framework
Program 7 (FP7) project GENCODYS, grant no 241995 (coordinator: Hans van
Bokhoven, Nijmegen).
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NR 108
TC 15
Z9 15
PU ELSEVIER SCIENCE LONDON
PI LONDON
PA 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND
SN 0168-9525
J9 TRENDS GENET
JI Trends Genet.
PD JAN
PY 2014
VL 30
IS 1
BP 32
EP 39
DI 10.1016/j.tig.2013.09.008
PG 8
WC Genetics & Heredity
SC Genetics & Heredity
GA 293ZW
UT WOS:000330013200005
PM 24176302
ER
PT J
AU Feinberg, E
Augustyn, M
Fitzgerald, E
Sandler, J
Suarez, ZFC
Chen, N
Cabral, H
Beardslee, W
Silverstein, M
AF Feinberg, Emily
Augustyn, Marilyn
Fitzgerald, Elaine
Sandler, Jenna
Suarez, Zhandra Ferreira-Cesar
Chen, Ning
Cabral, Howard
Beardslee, William
Silverstein, Michael
TI Improving Maternal Mental Health After a Child's Diagnosis of Autism
Spectrum Disorder Results From a Randomized Clinical Trial
SO JAMA PEDIATRICS
LA English
DT Article
ID PARENTING STRESS INDEX; PROBLEM-SOLVING TREATMENT; HEAD-START
POPULATION; INNER-CITY CHILDREN; DEPRESSIVE SYMPTOMS; MINOR DEPRESSION;
YOUNG-CHILDREN; PRIMARY-CARE; SHORT FORM; FOLLOW-UP
AB IMPORTANCE The prevalence of psychological distress among mothers of children with autism spectrum disorder (ASD) suggests a need for interventions that address parental mental health during the critical period after the child's autism diagnosis when parents are learning to navigate the complex system of autism services.
OBJECTIVE To investigate whether a brief cognitive behavioral intervention, problem-solving education (PSE), decreases parenting stress and maternal depressive symptoms during the period immediately following a child's diagnosis of ASD.
DESIGN, SETTING, AND PARTICIPANTS A randomized clinical trial compared 6 sessions of PSE with usual care. Settings included an autism clinic and 6 community-based early intervention programs that primarily serve low-income families. Participants were mothers of 122 young children (mean age, 34 months) who recently received a diagnosis of ASD. Among mothers assessed for eligibility, 17.0% declined participation. We report outcomes after 3 months of follow-up (immediate postdiagnosis period).
INTERVENTIONS Problem-solving education is a brief, cognitive intervention delivered in six 30-minute individualized sessions by existing staff (early intervention programs) or research staff without formal mental health training (autism clinic).
MAIN OUTCOMES AND MEASURES Primary outcomes were parental stress and maternal depressive symptoms.
RESULTS Fifty-nine mothers were randomized to receive PSE and 63 to receive usual care. The follow-up rate was 91.0%. Most intervention mothers (78.0%) received the full PSE course. At the 3-month follow-up assessment, PSE mothers were significantly less likely than those serving as controls to have clinically significant parental stress (3.8% vs 29.3%; adjusted relative risk [ aRR], 0.17; 95% CI, 0.04 to 0.65). For depressive symptoms, the risk reduction in clinically significant symptoms did not reach statistical significance (5.7% vs 22.4%; aRR, 0.33; 95% CI, 0.10 to 1.08); however, the reduction in mean depressive symptoms was statistically significant (Quick Inventory of Depressive Symptomatology score, 4.6 with PSE vs 6.9 with usual care; adjusted mean difference, -1.67; 95% CI, -3.17 to -0.18).
CONCLUSIONS AND RELEVANCE The positive effects of PSE in reducing parenting stress and depressive symptoms during the critical postdiagnosis period, when parents are asked to navigate a complex service delivery system, suggest that it may have a place in clinical practice. Further work will monitor these families for a total of 9 months to determine the trajectory of outcomes.
C1 [Feinberg, Emily; Augustyn, Marilyn; Chen, Ning; Silverstein, Michael] Boston Univ, Sch Med, Dept Pediat, Boston, MA 02118 USA.
[Feinberg, Emily; Fitzgerald, Elaine; Suarez, Zhandra Ferreira-Cesar] Boston Univ, Sch Publ Hlth, Dept Community Hlth Sci, Boston, MA 02118 USA.
[Augustyn, Marilyn; Sandler, Jenna; Chen, Ning; Silverstein, Michael] Boston Med Ctr, Dept Pediat, Boston, MA USA.
[Fitzgerald, Elaine] Natl Initiat Childrens Healthcare Qual, Boston, MA USA.
[Cabral, Howard] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02118 USA.
[Beardslee, William] Childrens Hosp Boston, Dept Psychiat, Boston, MA USA.
RP Feinberg, E (reprint author), Boston Univ, Sch Publ Hlth, Crosstown Ctr, Dept Community Hlth Sci, Room 440,801 Massachusetts Ave, Boston, MA 02118 USA.
EM emfeinbe@bu.edu
FU Maternal and Child Health Bureau [R40MC15596]
FX This study was supported by grant R40MC15596 from the Maternal and Child
Health Bureau (Dr Feinberg).
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NR 44
TC 6
Z9 6
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA
SN 2168-6203
EI 2168-6211
J9 JAMA PEDIATR
JI JAMA Pediatr.
PD JAN
PY 2014
VL 168
IS 1
BP 40
EP 46
DI 10.1001/jamapediatrics.2013.3445
PG 7
WC Pediatrics
SC Pediatrics
GA 291RK
UT WOS:000329846600011
PM 24217336
ER
PT J
AU Johnson, V
AF Johnson, Virginia
TI How People with Autism Grieve: An Insider Handbook.
SO LIBRARY JOURNAL
LA English
DT Book Review
C1 [Johnson, Virginia] Weymouth Publ Lib, Weymouth, MA USA.
RP Johnson, V (reprint author), Weymouth Publ Lib, Weymouth, MA USA.
CR LIPSKY D, 2013, PEOPLE AUTISM GRIEVE
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 JAN
PY 2014
VL 139
IS 1
BP 122
EP 122
PG 1
WC Information Science & Library Science
SC Information Science & Library Science
GA 286QL
UT WOS:000329483700238
ER
PT J
AU Johnson, V
AF Johnson, Virginia
TI Teaching Social Skills to People with Autism: Best Practices in
Individualizing Interventions.
SO LIBRARY JOURNAL
LA English
DT Book Review
C1 [Johnson, Virginia] Weymouth Publ Lib, Weymouth, MA USA.
RP Johnson, V (reprint author), Weymouth Publ Lib, Weymouth, MA USA.
CR BONDY A, 2013, TEACHING SOCIAL SKIL
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 JAN
PY 2014
VL 139
IS 1
BP 122
EP 123
PG 2
WC Information Science & Library Science
SC Information Science & Library Science
GA 286QL
UT WOS:000329483700240
ER
PT J
AU Johnson, V
AF Johnson, Virginia
TI From Like to Love for Young People with Asperger's Syndrome (Autism
Spectrum Disorder): Learning How To Express and Enjoy Affection with
Family and Friends.
SO LIBRARY JOURNAL
LA English
DT Book Review
C1 [Johnson, Virginia] Weymouth Publ Lib, Weymouth, MA USA.
RP Johnson, V (reprint author), Weymouth Publ Lib, Weymouth, MA USA.
CR ATTWOOD T, 2013, LIKE LOVE YOUNG PEOP
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 JAN
PY 2014
VL 139
IS 1
BP 122
EP 122
PG 1
WC Information Science & Library Science
SC Information Science & Library Science
GA 286QL
UT WOS:000329483700236
ER
PT J
AU Johnson, V
AF Johnson, Virginia
TI Essential First Steps for Parents of Children with Autism: Helping the
Littlest Learners.
SO LIBRARY JOURNAL
LA English
DT Book Review
C1 [Johnson, Virginia] Weymouth Publ Lib, Weymouth, MA USA.
RP Johnson, V (reprint author), Weymouth Publ Lib, Weymouth, MA USA.
CR DELMOLINO L, 2014, ESSENTIAL 1 STEPS PA
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 JAN
PY 2014
VL 139
IS 1
BP 122
EP 122
PG 1
WC Information Science & Library Science
SC Information Science & Library Science
GA 286QL
UT WOS:000329483700237
ER
PT J
AU Johnson, V
AF Johnson, Virginia
TI Worlds of Autism: Across the Spectrum of Neurological Difference.
SO LIBRARY JOURNAL
LA English
DT Book Review
C1 [Johnson, Virginia] Weymouth Publ Lib, Weymouth, MA USA.
RP Johnson, V (reprint author), Weymouth Publ Lib, Weymouth, MA USA.
CR Davidson Joyce, 2013, WORLDS AUTISM SPECTR
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 JAN
PY 2014
VL 139
IS 1
BP 123
EP 123
PG 1
WC Information Science & Library Science
SC Information Science & Library Science
GA 286QL
UT WOS:000329483700241
ER
PT J
AU Williams, DM
Jarrold, C
Grainger, C
Lind, SE
AF Williams, David M.
Jarrold, Christopher
Grainger, Catherine
Lind, Sophie E.
TI Diminished Time-Based, but Undiminished Event-Based, Prospective Memory
Among Intellectually High-Functioning Adults With Autism Spectrum
Disorder: Relation to Working Memory Ability
SO NEUROPSYCHOLOGY
LA English
DT Article
DE autism; prospective memory; working memory; short-term memory (STM);
complex span
ID RETROSPECTIVE MEMORY; INDIVIDUAL-DIFFERENCES; QUESTIONNAIRE PRMQ;
EXECUTIVE CONTROL; ASPERGER SYNDROME; LATENT STRUCTURE; NORMATIVE DATA;
SHORT-TERM; CHILDREN; SPAN
AB Objective: Prospective memory (PM) is the ability to remember to carry out an intended action. Working memory is the ability to store information in mind while processing potentially distracting information. The few previous studies of PM in autism spectrum disorder (ASD) have yielded inconsistent findings. Studies of working memory ability in ASD have suggested a selective impairment of "visual working memory." However, it remains unclear whether any such impairment is the result of diminished (domain-specific; visual/verbal) storage capacity or diminished (domain-general) processing capacity. We aim to clarify these issues and explore the relation between PM and working memory in ASD. Method: Seventeen adults with ASD and 17 age-and IQ-matched comparison participants completed experimental measures of both event-based (perform action x when event y occurs) and time-based (perform action a at time b) PM, plus a self-report measure of PM skills. Participants also completed a working memory test battery. Results: Participants with ASD self-reported diminished PM skill, and showed diminished performance on the time-based, but not event-based, PM task. On the working memory test battery, visual but not verbal storage capacity was diminished among participants with ASD, as was processing ability. Whereas visual storage was associated with event-based PM task performance among comparison participants, verbal storage was associated among ASD participants. Conclusions: ASD appears to involve a selective deficit in time-based PM and a selective difficulty with aspects of working memory that depend on the storage of visual information. However, event-based PM may be achieved through compensatory strategies in ASD.
C1 [Williams, David M.; Grainger, Catherine; Lind, Sophie E.] Univ Durham, Dept Psychol, Durham DH1 3LE, England.
[Jarrold, Christopher] Univ Bristol, Sch Expt Psychol, Bristol, Avon, England.
RP Williams, DM (reprint author), Univ Kent, Keynes Coll, Sch Psychol, Canterbury CT2 7NP, Kent, England.
EM d.m.williams@kent.ac.uk
FU Economic and Social Research Council United Kingdom [RES-000-22-4125,
RES-062-23-2192]; American Psychological Association; National Autistic
Society; Durham University Service for Students with Disabilities
FX This study was funded by an Economic and Social Research Council United
Kingdom Grant awarded to David M. Williams and Christopher Jarrold
(RES-000-22-4125). Sophie E. Lind was supported by an Economic and
Social Research Council United Kingdom Grant (RES-062-23-2192). This
article has been published under the terms of the Creative Commons
Attribution License (http://creativecommons.org/licenses/by/3.0/), which
permits unrestricted use, distribution, and reproduction in any medium,
provided the original author and source are credited. Copyright for this
article is retained by the author(s). Author(s) grant(s) the American
Psychological Association the exclusive right to publish the article and
identify itself as the original publisher. Sincere thanks to all of the
participants who took part in this study. Without their support, this
research would not have been possible. Thanks also to the National
Autistic Society and to Durham University Service for Students with
Disabilities for their support with participant recruitment. Finally,
thanks to Anna Peel for her assistance with data collection.
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World Health Organization, 1993, INT CLASS MENT BEH D
NR 62
TC 3
Z9 3
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 JAN
PY 2014
VL 28
IS 1
BP 30
EP 42
DI 10.1037/neu0000008
PG 13
WC Psychology, Clinical; Neurosciences; Psychology
SC Psychology; Neurosciences & Neurology
GA 281RO
UT WOS:000329118900004
PM 24128041
ER
PT J
AU Lind, SE
Williams, DM
Bowler, DM
Peel, A
AF Lind, Sophie E.
Williams, David M.
Bowler, Dermot M.
Peel, Anna
TI Episodic Memory and Episodic Future Thinking Impairments in
High-Functioning Autism Spectrum Disorder: An Underlying Difficulty With
Scene Construction or Self-Projection?
SO NEUROPSYCHOLOGY
LA English
DT Article
DE autism spectrum disorder; episodic memory; episodic future thinking;
scene construction; self-projection
ID AUTOBIOGRAPHICAL MEMORY; AUTONOETIC CONSCIOUSNESS; ASPERGERS-SYNDROME;
CHILDREN; MIND; ADULTS; ABILITY; BRAIN; SPECIFICITY; EXPERIENCE
AB Objective: There appears to be a common network of brain regions that underlie the ability to recall past personal experiences (episodic memory) and the ability to imagine possible future personal experiences (episodic future thinking). At the cognitive level, these abilities are thought to rely on "scene construction" (the ability to bind together multimodal elements of a scene in mind-dependent on hippocampal functioning) and temporal "self-projection" (the ability to mentally project oneself through time-dependent on prefrontal cortex functioning). Although autism spectrum disorder (ASD) is characterized by diminished episodic memory, it is unclear whether episodic future thinking is correspondingly impaired. Moreover, the underlying basis of such impairments (difficulties with scene construction, self-projection, or both) is yet to be established. The current study therefore aimed to elucidate these issues. Method: Twenty-seven intellectually high-functioning adults with ASD and 29 age-and IQ-matched neurotypical comparison adults were asked to describe (a) imagined atemporal, non-self-relevant fictitious scenes (assessing scene construction), (b) imagined plausible self-relevant future episodes (assessing episodic future thinking), and (c) recalled personally experienced past episodes (assessing episodic memory). Tests of narrative ability and theory of mind were also completed. Results: Performances of participants with ASD were significantly and equally diminished in each condition and, crucially, this diminution was independent of general narrative ability. Conclusions: Given that participants with ASD were impaired in the fictitious scene condition, which does not involve self-projection, we suggest the underlying difficulty with episodic memory/future thinking is one of scene construction.
C1 [Lind, Sophie E.; Williams, David M.; Peel, Anna] Univ Durham, Dept Psychol, Durham DH1 3HP, England.
[Lind, Sophie E.; Bowler, Dermot M.] City Univ London, Dept Psychol, London EC1R 0JD, England.
RP Lind, SE (reprint author), City Univ London, Dept Psychol, Whiskin St, London EC1R 0JD, England.
EM Sophie.lind.2@city.ac.uk
FU Economic and Social Research Council UK [RES-062-23-2192,
RES-000-22-4125]; American Psychological Association
FX This study was funded by an Economic and Social Research Council UK
Grant awarded to Sophie Lind and Dermot Bowler (RES-062-23-2192). David
Williams was supported by an Economic and Social Research Council UK
Grant (RES-000-22-4125). This article has been published under the terms
of the Creative Commons Attribution License
(http://creativecommons.org/licenses/by/3.0/) which permits unrestricted
use, distribution, and reproduction in any medium, provided the original
author and source are credited. Copyright for this article is retained
by the author(s). Author(s) grant(s) the American Psychological
Association the exclusive right to publish the article and identify
itself as the original publisher. Sincere thanks to all of the
participants who took part in this study. Without their support, this
research would not have been possible. Thanks also to the National
Autistic Society and to Durham University Service for Students with
Disabilities for their support with participant recruitment. Thanks to
Western Psychological Services for giving us permission to use the
prepublication version of the Social Responsiveness Scale, Second
Edition. Finally, thanks to Catherine Grainger, Heather Payne, and Fiona
McKee for their assistance in conducting the study, transcribing audio
files, and coding the data. Some of the results reported in this
manuscript were presented at the International Meeting for Autism
Research (May 2013) in Donostia/San Sebastian, Basque Country/Spain.
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NR 55
TC 9
Z9 9
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 JAN
PY 2014
VL 28
IS 1
BP 55
EP 67
DI 10.1037/neu0000005
PG 13
WC Psychology, Clinical; Neurosciences; Psychology
SC Psychology; Neurosciences & Neurology
GA 281RO
UT WOS:000329118900006
PM 24015827
ER
PT J
AU Reyna, VF
Chick, CF
Corbin, JC
Hsia, AN
AF Reyna, Valerie F.
Chick, Christina F.
Corbin, Jonathan C.
Hsia, Andrew N.
TI Developmental Reversals in Risky Decision Making: Intelligence Agents
Show Larger Decision Biases Than College Students
SO PSYCHOLOGICAL SCIENCE
LA English
DT Article
DE decision making; risk taking
ID FUZZY-TRACE THEORY; YOUNG-CHILDREN; ADULTS; RATIONALITY; PROBABILITY;
PREFERENCES; COMPETENCE; THINKING; CHOICE; AUTISM
AB Intelligence agents make risky decisions routinely, with serious consequences for national security. Although common sense and most theories imply that experienced intelligence professionals should be less prone to irrational inconsistencies than college students, we show the opposite. Moreover, the growth of experience-based intuition predicts this developmental reversal. We presented intelligence agents, college students, and postcollege adults with 30 risky-choice problems in gain and loss frames and then compared the three groups' decisions. The agents not only exhibited larger framing biases than the students, but also were more confident in their decisions. The postcollege adults (who were selected to be similar to the students) occupied an interesting middle ground, being generally as biased as the students (sometimes more biased) but less biased than the agents. An experimental manipulation testing an explanation for these effects, derived from fuzzy-trace theory, made the students look as biased as the agents. These results show that, although framing biases are irrational (because equivalent outcomes are treated differently), they are the ironical output of cognitively advanced mechanisms of meaning making.
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RP Reyna, VF (reprint author), Cornell Univ, Human Neurosci Inst, B44,Martha Van Rensselaer Hall, Ithaca, NY 14853 USA.
EM vr53@cornell.edu
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NR 41
TC 11
Z9 13
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 JAN
PY 2014
VL 25
IS 1
BP 76
EP 84
DI 10.1177/0956797613497022
PG 9
WC Psychology, Multidisciplinary
SC Psychology
GA 286RL
UT WOS:000329486300008
PM 24171931
ER
PT J
AU Drahota, A
Stadnick, N
Brookman-Frazee, L
AF Drahota, Amy
Stadnick, Nicole
Brookman-Frazee, Lauren
TI Therapist Perspectives on Training in a Package of Evidence-Based
Practice Strategies for Children with Autism Spectrum Disorders Served
in Community Mental Health Clinics
SO ADMINISTRATION AND POLICY IN MENTAL HEALTH AND MENTAL HEALTH SERVICES
RESEARCH
LA English
DT Article
DE Therapist perspectives; Evidence-based practice; Autism spectrum
disorders; Community mental health clinics; Challenging behaviors
ID DISRUPTIVE BEHAVIOR PROBLEMS; PSYCHOTHERAPY; ATTITUDES; SERVICES;
PRACTITIONERS; CONTEXT; YOUTH
AB Therapist perspectives regarding delivery of evidence-based practice (EBP) strategies are needed to understand the feasibility of implementation in routine service settings. This qualitative study examined the perspectives of 13 therapists receiving training and delivering a package of EBPs to children with autism spectrum disorders (ASDs) in community mental health clinics. Therapists perceived the training and intervention delivery as effective at improving their clinical skills, the psychotherapy process, and child and family outcomes. Results expand parent pilot study findings, and add to the literature on training community providers and limited research on training providers to deliver EBPs to children with ASD.
C1 [Drahota, Amy] San Diego State Univ, Dept Psychol, San Diego, CA 92182 USA.
[Drahota, Amy; Stadnick, Nicole; Brookman-Frazee, Lauren] Rady Childrens Hosp San Diego, Child & Adolescent Serv Res Ctr, San Diego, CA 92123 USA.
[Stadnick, Nicole] Univ Calif San Diego, San Diego State Univ, Joint Doctoral Program Clin Psychol, San Diego, CA 92103 USA.
[Brookman-Frazee, Lauren] Univ Calif San Diego, Dept Psychiat, San Diego, CA 92103 USA.
RP Drahota, A (reprint author), Rady Childrens Hosp San Diego, Child & Adolescent Serv Res Ctr, 3020 Childrens Way MC 5033, San Diego, CA 92123 USA.
EM adrahota@casrc.org
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NR 43
TC 1
Z9 1
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0894-587X
EI 1573-3289
J9 ADM POLICY MENT HLTH
JI Adm. Policy. Ment. Health
PD JAN
PY 2014
VL 41
IS 1
SI SI
BP 114
EP 125
DI 10.1007/s10488-012-0441-9
PG 12
WC Health Policy & Services; Public, Environmental & Occupational Health
SC Health Care Sciences & Services; Public, Environmental & Occupational
Health
GA 283CG
UT WOS:000329221700012
PM 23086499
ER
PT J
AU Kim, YS
AF Kim, Young Shin
TI Autism and Specific Language Impairment: To Know. What We See, or How
Your Sample Determines What You Observe
SO AMERICAN JOURNAL OF PSYCHIATRY
LA English
DT Editorial Material
ID 16P11.2; SCHIZOPHRENIA; CNVS
C1 [Kim, Young Shin] Yale Univ, Sch Med, Ctr Child Study, New Haven, CT 06510 USA.
[Kim, Young Shin] Nathan S Kline Inst Psychiat Res, Orangeburg, NY 10962 USA.
[Kim, Young Shin] Yonsei Univ, Coll Med, Dept Psychiat, Seoul, South Korea.
RP Kim, YS (reprint author), Yale Univ, Sch Med, Ctr Child Study, New Haven, CT 06510 USA.
EM young-shin.kim@yale.edu
CR Ahn K, MOL PSYCHIAT
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NR 15
TC 0
Z9 0
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 JAN
PY 2014
VL 171
IS 1
BP 5
EP 8
DI 10.1176/appi.ajp.2013.13101379
PG 4
WC Psychiatry
SC Psychiatry
GA 286OO
UT WOS:000329478800002
PM 24399420
ER
PT J
AU Bartlett, CW
Hou, LP
Flax, JF
Hare, A
Cheong, SY
Fermano, Z
Zimmerman-Bier, B
Cartwright, C
Azaro, MA
Buyske, S
Brzustowicz, LM
AF Bartlett, Christopher W.
Hou, Liping
Flax, Judy F.
Hare, Abby
Cheong, Soo Yeon
Fermano, Zena
Zimmerman-Bier, Barbie
Cartwright, Charles
Azaro, Marco A.
Buyske, Steven
Brzustowicz, Linda M.
TI A Genome Scan for Loci Shared by Autism Spectrum Disorder and Language
Impairment
SO AMERICAN JOURNAL OF PSYCHIATRY
LA English
DT Article
ID SOCIAL RESPONSIVENESS SCALE; OBSESSIVE-COMPULSIVE SCALE; DE-NOVO
MUTATIONS; PERVASIVE DEVELOPMENTAL DISORDERS; QUANTITATIVE TRAIT LOCUS;
DIAGNOSTIC INTERVIEW; SUSCEPTIBILITY GENE; LINKAGE; CHROMOSOME-2;
ASSOCIATION
AB Objective: The authors conducted a genetic linkage study of families that have both autism spectrum disorder (ASD) and language-impaired probands to find common communication impairment loci. The hypothesis was that these families have a high genetic loading for impairments in language ability, thus influencing the language and communication deficits of the family members with ASD. Comprehensive behavioral phenotyping of the families also enabled linkage analysis of quantitative measures, including normal, subclinical, and disordered variation in all family members for the three general autism symptom domains: social, communication, and compulsive behaviors.
Method: The primary linkage analysis coded persons with either ASD or specific language impairment as "affected." The secondary linkage analysis consisted of quantitative metrics of autism-associated behaviors capturing normal to clinically severe variation, measured in all family members.
Results: Linkage to language phenotypes was established at two novel chromosomal loci, 15q23-26 and 16p12. The secondary analysis of normal and disordered quantitative variation in social and compulsive, behaviors established linkage to two loci for social behaviors (at 14q and 15q) and one locus for repetitive behaviors (at 13q).
Conclusion: These data indicate shared etiology of ASD and specific language impairment at two novel loci. Additionally, non-language phenotypes based on social aloofness and rigid personality traits showed compelling evidence for linkage in this study group. Further genetic mapping is warranted at these loci.
C1 [Brzustowicz, Linda M.] Ohio State Univ, Nationwide Childrens Hosp, Res Inst, Battelle Ctr Math Med, Columbus, OH 43210 USA.
Ohio State Univ, Dept Pediat, Columbus, OH 43210 USA.
Rutgers State Univ, Human Genet Inst New Jersey, Dept Genet, Piscataway, NJ USA.
Rutgers State Univ, Dept Stat & Biostat, Piscataway, NJ USA.
St Peters Univ Hosp, Dept Pediat, New Brunswick, NJ USA.
Univ Med & Dent New Jersey, New Jersey Med Sch, Dept Psychiat, Newark, NJ 07103 USA.
RP Brzustowicz, LM (reprint author), Ohio State Univ, Nationwide Childrens Hosp, Res Inst, Battelle Ctr Math Med, Columbus, OH 43210 USA.
EM brzustowicz@biology.rutgers.edu
RI Bartlett, Christopher/B-4958-2009; Hou, Liping/G-1648-2011
OI Bartlett, Christopher/0000-0001-7837-6348; Hou,
Liping/0000-0003-3972-245X
FU NIMH [R01 MH-070366, RC1 MH-088288]; NIMH Center for Collaborative
Genomic Studies on Mental Disorders; Ohio Supercomputer Center
[PCCR0001-2]; [U24 MH-068457]
FX Supported by NIMH grants R01 MH-070366 and RC1 MH-088288 to Dr.
Brzustowicz; by the NIMH Center for Collaborative Genomic Studies on
Mental Disorders, funded by U24 MH-068457; and by computing time from
Ohio Supercomputer Center grant PCCR0001-2 to Dr. Bartlett.
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NR 46
TC 4
Z9 4
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 JAN
PY 2014
VL 171
IS 1
BP 72
EP 81
DI 10.1176/appi.ajp.2013.12081103
PG 10
WC Psychiatry
SC Psychiatry
GA 286OO
UT WOS:000329478800014
PM 24170272
ER
PT J
AU Stobbe, G
Liu, YJ
Wu, R
Hudgings, LH
Thompson, O
Hisama, FM
AF Stobbe, Gary
Liu, Yajuan
Wu, Rebecca
Hudgings, Laura Heath
Thompson, Owen
Hisama, Fuki M.
TI Diagnostic yield of array comparative genomic hybridization in adults
with autism spectrum disorders
SO GENETICS IN MEDICINE
LA English
DT Article
DE adult; array comparative genomic hybridization; autism; genetic testing;
pervasive developmental disorders
ID KRUPPEL-LIKE FACTOR-8; COPY NUMBER VARIANTS; INTELLECTUAL DISABILITY;
MENTAL-RETARDATION; MELATONIN PATHWAY; PROTEIN; GENE; MICRODUPLICATION;
IDENTIFICATION; TRANSCRIPTION
AB Purpose: Array comparative genomic hybridization is available for the evaluation of autism spectrum disorders. The diagnostic yield of testing is 5-18% in children with developmental disabilities, including autism spectrum disorders and multiple congenital anomalies. The yield of array comparative genomic hybridization in the adult autism spectrum disorder population is unknown.
Methods: We performed a retrospective chart review for 40 consecutive patients referred for genetic evaluation of autism from July 2009 through April 2012. Four pediatric patients were excluded. Medical history and prior testing were reviewed. Clinical genetic evaluation and testing were offered to all patients.
Results: The study population comprised 36 patients (age range 18-45, mean 25.3 years). An autism spectrum disorder diagnosis was confirmed in 34 of 36 patients by medical record review. One patient had had an abnormal karyotype; none had prior array comparative genomic hybridization testing. Of the 23 patients with autism who underwent array comparative genomic hybridization, 2 of 23 (8.7%) had pathogenic or presumed pathogenic abnormalities and 2 of 23 (8.7%) had likely pathogenic copy-number variants. An additional 5 of 23 (22%) of autism patients had variants of uncertain significance without subclassification.
Conclusion: Including one patient newly diagnosed with fragile X syndrome, our data showed abnormal or likely pathogenic findings in 5 of 24 (21%) adult autism patients. Genetic reevaluation in adult autism patients is warranted.
C1 [Stobbe, Gary; Hisama, Fuki M.] Univ Washington, Dept Neurol, Seattle, WA 98195 USA.
[Stobbe, Gary] Univ Washington, Dept Psychiat, Seattle, WA 98195 USA.
[Liu, Yajuan] Univ Washington, Dept Pathol, Seattle, WA 98195 USA.
[Wu, Rebecca] Univ Washington, Dept Neurobiol, Seattle, WA 98195 USA.
[Hudgings, Laura Heath] Univ Washington, Dept Family Med, Seattle, WA 98195 USA.
[Thompson, Owen] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA.
[Hisama, Fuki M.] Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA.
RP Hisama, FM (reprint author), Univ Washington, Dept Neurol, Seattle, WA 98195 USA.
EM fmh2@u.washington.edu
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NR 40
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1098-3600
EI 1530-0366
J9 GENET MED
JI Genet. Med.
PD JAN
PY 2014
VL 16
IS 1
BP 70
EP 77
DI 10.1038/gim.2013.78
PG 8
WC Genetics & Heredity
SC Genetics & Heredity
GA 284GO
UT WOS:000329304300010
PM 23765050
ER
PT J
AU Shea, L
Newschaffer, CJ
Xie, M
Myers, SM
Mandell, DS
AF Shea, Lindsay
Newschaffer, Craig J.
Xie, Ming
Myers, Scott M.
Mandell, David S.
TI Genetic testing and genetic counseling among medicaid-enrolled children
with autism spectrum disorder in 2001 and 2007
SO HUMAN GENETICS
LA English
DT Article
ID CHROMOSOMAL MICROARRAY; DEVELOPMENTAL DELAY; GENOMIC HYBRIDIZATION;
CLINICAL-IMPLICATIONS; ETHNIC DISPARITIES; MENTAL-HEALTH; DIAGNOSIS;
DISABILITIES; INDIVIDUALS; RECURRENCE
AB The rise in the prevalence of autism spectrum disorder (ASD) has resulted in increased efforts to understand the causes of this complex set of disorders that emerge early in childhood. Although research in this area is underway and yielding useful, but complex information about ASD, guidelines for the use of genetic testing and counseling among children with ASD conflict. The purpose of this study was to determine the frequency of use of genetic testing and counseling before the widespread implementation of clinical chromosomal microarray (CMA) to establish a baseline for the use of both services and to investigate potential disparities in the use of both services among children with ASD. We found that about two-thirds of children with ASD received genetic testing or counseling and the use of both services is increasing with time, even in the pre-CMA era. Being female and having a comorbid intellectual disability diagnosis both increased the likelihood of receiving genetic testing and genetic counseling. Initial discrepancies in the use of both services based on race/ethnicity suggest that troubling disparities observed in other services delivered to children with ASD and other mental health disorders persist in genetic testing and counseling as well. These results should incentivize further investigation of the impact of genetic testing and counseling on children with ASD and their families, and should drive efforts to explore and confront disparities in the delivery of these services, particularly with the advancing scientific research on this topic.
C1 [Shea, Lindsay; Newschaffer, Craig J.] Drexel Univ, AJ Drexel Autism Inst, Philadelphia, PA 19104 USA.
[Xie, Ming; Mandell, David S.] Univ Penn, Ctr Mental Hlth Policy & Serv Res, Philadelphia, PA 19104 USA.
[Myers, Scott M.] Geisinger Hlth Syst, Danville, PA 17822 USA.
[Mandell, David S.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA.
RP Shea, L (reprint author), Drexel Univ, AJ Drexel Autism Inst, 3020 Market St,Suite 560, Philadelphia, PA 19104 USA.
EM ljl42@drexel.edu
RI Mandell, David/H-2730-2012
OI Mandell, David/0000-0001-8240-820X
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NR 46
TC 1
Z9 1
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 JAN
PY 2014
VL 133
IS 1
BP 111
EP 116
DI 10.1007/s00439-013-1362-8
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA 283KH
UT WOS:000329244500009
PM 24036677
ER
PT J
AU Wong, VCN
Fung, CKY
Wong, PTY
AF Wong, Virginia C. N.
Fung, Cecilia K. Y.
Wong, Polly T. Y.
TI Use of Dysmorphology for Subgroup Classification on Autism Spectrum
Disorder in Chinese Children
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism Spectrum Disorder; Dysmorphology; Subgroup classification
ID LANGUAGE; SUBTYPES; GENES
AB Data from 1,261 Chinese Autistic Spectrum Disorder (ASD) patients were evaluated and categorized into dysmorphic (10.79 %) and non-dysmorphic groups (89.21 %) upon physical examination by the presence of dysmorphic features. Abnormal MRI/CT result, IQ scores and epilepsy were significantly associated with the dysmorphic group of ASD children. However, gender, EEG abnormality and family history and recurrence of ASD were not found to be significantly different between group statuses. It is suggested that results collected from the Chinese population generally resembles that found in the Caucasians with ethnical differences still present. Current study supports the result shown in Miles' study (Miles et al. in Am J Med Genet 135A:171-180, 2005), in which heterogeneity subtypes of autism of different genetic origins which could be distinguished by presence of dysmorphic features on the patients.
C1 [Wong, Virginia C. N.; Fung, Cecilia K. Y.; Wong, Polly T. Y.] Univ Hong Kong, Dept Pediat & Adolescent Med, Div Child Neurol Dev Paediat Neurohabilitat, Hong Kong, Hong Kong, Peoples R China.
[Wong, Virginia C. N.; Fung, Cecilia K. Y.; Wong, Polly T. Y.] Univ Hong Kong, Dept Pediat & Adolescent Med, Div Neurodev Paediat, Hong Kong, Hong Kong, Peoples R China.
RP Wong, VCN (reprint author), Univ Hong Kong, Dept Pediat & Adolescent Med, Div Child Neurol Dev Paediat Neurohabilitat, Hong Kong, Hong Kong, Peoples R China.
EM vcnwong@hku.hk; ceceky@gmail.com; pollywongty@hku.hk
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NR 29
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD JAN
PY 2014
VL 44
IS 1
BP 9
EP 18
DI 10.1007/s10803-013-1846-3
PG 10
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000002
PM 23666520
ER
PT J
AU Taylor, LJ
Maybery, MT
Grayndler, L
Whitehouse, AJO
AF Taylor, Lauren J.
Maybery, Murray T.
Grayndler, Luke
Whitehouse, Andrew J. O.
TI Evidence for Distinct Cognitive Profiles in Autism Spectrum Disorders
and Specific Language Impairment
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Cognitive phenotype; Specific language impairment; Aetiological overlap
ID HIGH-FUNCTIONING AUTISM; WEAK CENTRAL COHERENCE; SCHOOL-AGE-CHILDREN;
NON-WORD REPETITION; EARLY ADULT LIFE; DISEMBEDDING PERFORMANCE;
PSYCHOLINGUISTIC MARKERS; DEVELOPMENTAL DISORDERS; LINGUISTIC ABILITIES;
NONWORD REPETITION
AB Findings that a subgroup of children with an autism spectrum disorder (ASD) have linguistic capabilities that resemble specific language impairment (SLI) have led some authors to hypothesise that ASD and SLI have a shared aetiology. While considerable research has explored overlap in the language phenotypes of the two conditions, little research has examined possible overlap in cognitive characteristics. In this study, we explored nonword and sentence repetition performance, as well as performance on the Children's Embedded Figures Test (CEFT) for children with ASD or SLI. As expected, 'language impaired' children with ASD (ALI) and children with SLI performed worse than both 'language normal' ASD (ALN) and typically developing (TD) children on the nonword and sentence repetition tests. Further, the SLI children performed worse than all other groups on the CEFT. This finding supports distinct cognitive profiles in ASD and SLI and may provide further evidence for distinct aetiological mechanisms in the two conditions.
C1 [Taylor, Lauren J.; Maybery, Murray T.; Whitehouse, Andrew J. O.] Univ Western Australia, Sch Psychol, Neurocognit Dev Unit, Crawley, WA 6009, Australia.
[Taylor, Lauren J.; Whitehouse, Andrew J. O.] Univ Western Australia, Ctr Child Hlth Res, Telethon Inst Child Hlth Res, Perth, WA 6009, Australia.
[Grayndler, Luke] CHILD Assoc, Glenleighden Sch, Brisbane, Qld, Australia.
RP Taylor, LJ (reprint author), Univ Western Australia, Sch Psychol, Neurocognit Dev Unit, 35 Stirling Highway, Crawley, WA 6009, Australia.
EM 10412336@student.uwa.edu.au
RI Maybery, Murray/H-5390-2014
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NR 92
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 JAN
PY 2014
VL 44
IS 1
BP 19
EP 30
DI 10.1007/s10803-013-1847-2
PG 12
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000003
PM 23670577
ER
PT J
AU Russell, G
Rodgers, LR
Ukoumunne, OC
Ford, T
AF Russell, Ginny
Rodgers, Lauren R.
Ukoumunne, Obioha C.
Ford, Tamsin
TI Prevalence of Parent-Reported ASD and ADHD in the UK: Findings from the
Millennium Cohort Study
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Attention deficit hyperactivity disorder; Autism; Prevalence;
Co-morbidity; Pervasive developmental disorder; Autism spectrum disorder
ID AUTISM SPECTRUM DISORDERS; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
DEFICIT HYPERACTIVITY DISORDER; MATERNAL MENTAL-HEALTH;
PSYCHIATRIC-DISORDERS; COMMUNITY SAMPLE; CHILDREN; AGE; DIAGNOSIS; RISK
AB The UK prevalence of parent-reported autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD) were estimated from the Millennium Cohort Study. Case definition was if a doctor or health care professional had ever told parents that their child had ASD and/or ADHD. Data were collected in 2008/2009 for 14,043 children. 1.7 % of children were reported as having ASD (95 % CI 1.4-2.0) at mean age 7.2 years (SD = 0.2; range = 6.3-8.2). 1.4 % reportedly had ADHD (95 % CI 1.2-1.7), and 0.3 % had both ASD and ADHD (95 % CI 0.2-0.5). After adjusting for socio-economic disadvantage, only male sex (p < 0.001 for both conditions) and cognitive ability, p = 0.004 (ASD); p = 0.01 (ADHD) remained strongly associated. The observed prevalence of parent-reported ASD is high compared to earlier UK and US estimates. Parent-reported ADHD is low compared to US estimates using the same measure.
C1 [Russell, Ginny; Rodgers, Lauren R.; Ukoumunne, Obioha C.; Ford, Tamsin] Univ Exeter, Sch Med, NIHR CLAHRC South West Peninsula PenCLAHRC, Exeter, Devon, England.
RP Russell, G (reprint author), Veysey Bldg,Salmon Pool Lane, Exeter EX2 4SG, Devon, England.
EM g.russell@ex.ac.uk
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NR 53
TC 11
Z9 11
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 JAN
PY 2014
VL 44
IS 1
BP 31
EP 40
DI 10.1007/s10803-013-1849-0
PG 10
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000004
PM 23719853
ER
PT J
AU Miltenberger, CA
Charlop, MH
AF Miltenberger, Catherine A.
Charlop, Marjorie H.
TI Increasing the Athletic Group Play of Children with Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Interactive play; Motor skills; Speech
ID TEACHING-CHILDREN; PLAYGROUND GAMES; YOUNG-CHILDREN; SYMBOLIC PLAY;
PRETEND PLAY; SKILLS; INTERVENTIONS; PRESCHOOLERS; SCHOOL
AB A multiple baseline design across three children with autism and within child across activity was used to assess the effects of interventions designed to teach children with autism to play two common athletic group games, handball and 4-square. Treatment consisted of two phases. In Phase I, athletic skills training, the children participated in sessions designed facilitate their acquisition of the athletic skills required by the targeted games. During Phase II, rules training, the children were instructed on the rules of the targeted games. Mastering the athletic skills and participating in rules training resulted in increased athletic group play and concomitant increases in speech. These gains were maintained at 8-16 weeks follow-up. However, generalization to participation in school recess activities did not occur.
C1 [Miltenberger, Catherine A.] Claremont Grad Univ, Claremont, CA 91711 USA.
[Charlop, Marjorie H.] Claremont McKenna Coll, Claremont, CA 91711 USA.
RP Charlop, MH (reprint author), Claremont McKenna Coll, 850 Columbia Ave, Claremont, CA 91711 USA.
EM mcharlop@cmc.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT, P69
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NR 35
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 JAN
PY 2014
VL 44
IS 1
BP 41
EP 54
DI 10.1007/s10803-013-1850-7
PG 14
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000005
PM 23700189
ER
PT J
AU Murray, AL
Booth, T
McKenzie, K
Kuenssberg, R
O'Donnell, M
AF Murray, Aja L.
Booth, Tom
McKenzie, Karen
Kuenssberg, Renate
O'Donnell, Michael
TI Are Autistic Traits Measured Equivalently in Individuals With and
Without An Autism Spectrum Disorder? An Invariance Analysis of the
Autism Spectrum Quotient Short Form
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Autistic traits; Measurement invariance; Confirmatory factor
analysis; Autism spectrum quotient
ID TESTING MEASUREMENT INVARIANCE; FUNCTIONING AUTISM; FIT INDEXES; AQ;
VALIDATION; CRITERIA; VERSION; MODELS
AB It is common to administer measures of autistic traits to those without autism spectrum disorders (ASDs) with, for example, the aim of understanding autistic personality characteristics in non-autistic individuals. Little research has examined the extent to which measures of autistic traits actually measure the same traits in the same way across those with and without an ASD. We addressed this question using a multi-group confirmatory factor invariance analysis of the Autism Quotient Short Form (AQ-S: Hoekstra et al. in J Autism Dev Disord 41(5):589-596, 2011) across those with (n = 148) and without (n = 168) ASD. Metric variance (equality of factor loadings), but not scalar invariance (equality of thresholds), held suggesting that the AQ-S measures the same latent traits in both groups, but with a bias in the manner in which trait levels are estimated. We, therefore, argue that the AQ-S can be used to investigate possible causes and consequences of autistic traits in both groups separately, but caution is due when combining or comparing levels of autistic traits across the two groups.
C1 [Murray, Aja L.; Booth, Tom] Univ Edinburgh, Dept Psychol, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh EH8 9JZ, Midlothian, Scotland.
[McKenzie, Karen] Univ Edinburgh, Dept Clin Psychol, Edinburgh EH8 9JZ, Midlothian, Scotland.
[Kuenssberg, Renate] NHS Fife, Kirkcaldy, Scotland.
[O'Donnell, Michael] Univ Edinburgh, Dept Psychol, Edinburgh EH8 9JZ, Midlothian, Scotland.
RP Murray, AL (reprint author), Univ Edinburgh, Dept Psychol, Ctr Cognit Ageing & Cognit Epidemiol, 7 George Sq, Edinburgh EH8 9JZ, Midlothian, Scotland.
EM s0785823@sms.ed.ac.uk
CR Allison C, 2011, J AM ACAD CHILD PSY, V51, p[202, e207]
American Psychiatric Association (APA), 2000, DIAGN STAT MAN MENT, P75
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Baron-Cohen S, 2006, J AUTISM DEV DISORD, V36, P343, DOI 10.1007/s10803-006-0073-6
Baron-Cohen S, 2004, J AUTISM DEV DISORD, V34, P163, DOI 10.1023/B:JADD.0000022607.19833.00
Borsboom D, 2006, MED CARE, V44, pS176, DOI 10.1097/01.mlr.0000245143.08679.cc
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Hoekstra RA, 2011, J AUTISM DEV DISORD, V41, P589, DOI 10.1007/s10803-010-1073-0
Hu LT, 1999, STRUCT EQU MODELING, V6, P1, DOI 10.1080/10705519909540118
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Kim ES, 2011, STRUCT EQU MODELING, V18, P212, DOI 10.1080/10705511.2011.557337
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Meredith W, 2006, MED CARE, V44, pS69, DOI 10.1097/01.mlr.0000245438.73837.89
Muthen L. K., 2010, MPLUS USERS GUIDE
Rajendran G, 2007, DEV REV, V27, P224, DOI 10.1016/j.dr.2007.02.001
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Yu C. Y., 2002, THESIS U CALIFORNIA
NR 35
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 JAN
PY 2014
VL 44
IS 1
BP 55
EP 64
DI 10.1007/s10803-013-1851-6
PG 10
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000006
PM 23695223
ER
PT J
AU Dickson, CA
MacDonald, RPF
Mansfield, R
Guilhardi, P
Johnson, C
Ahearn, WH
AF Dickson, Chata A.
MacDonald, Rebecca P. F.
Mansfield, Renee
Guilhardi, Paulo
Johnson, Cammarie
Ahearn, William H.
TI Social Validation of the New England Center for Children-Core Skills
Assessment
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Assessment; Social validation; Foundational skills; Goal
selection; Evidence-based practices
ID INTENSIVE BEHAVIORAL INTERVENTION; AUTISM; VALIDITY
AB We investigated the social validity of the NECC Core Skills Assessment (NECC-CSA) with parents and professionals as participants. The NECC-CSA is a measurement tool consisting of direct and indirect measures of skills important to all individuals with autism, across the lifespan. Participants (N = 245) were provided with a list of 66 skills, 47 of which were Core Skills from the NECC-CSA, and were asked to indicate which items they considered to be foundational. Participants endorsed items from the NECC-CSA as foundational skills, more than they endorsed the other items. Differences between parents and professionals are described and detailed with respect to individual assessment items. The NECC-CSA consists of socially validated skills that can be taken as a starting point for programs of instruction for individuals with ASDs.
C1 [Dickson, Chata A.; MacDonald, Rebecca P. F.; Mansfield, Renee; Guilhardi, Paulo; Johnson, Cammarie; Ahearn, William H.] New England Ctr Children, Southborough, MA 01772 USA.
[Dickson, Chata A.; MacDonald, Rebecca P. F.; Ahearn, William H.] Western New England Univ, Springfield, MA 01119 USA.
RP Dickson, CA (reprint author), New England Ctr Children, 33 Turnpike Rd, Southborough, MA 01772 USA.
EM cdickson@necc.org
CR Callahan K, 2008, J AUTISM DEV DISORD, V38, P678, DOI 10.1007/s10803-007-0434-9
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NR 18
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 JAN
PY 2014
VL 44
IS 1
BP 65
EP 74
DI 10.1007/s10803-013-1852-5
PG 10
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000007
PM 23719854
ER
PT J
AU Tek, S
Mesite, L
Fein, D
Naigles, L
AF Tek, Saime
Mesite, Laura
Fein, Deborah
Naigles, Letitia
TI Longitudinal Analyses of Expressive Language Development Reveal Two
Distinct Language Profiles Among Young Children with Autism Spectrum
Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Language acquisition; Morphology and syntax
ID GRAMMATICAL MORPHEMES; WH-QUESTIONS; IMPAIRMENT; COMMUNICATION;
ACQUISITION; PHENOTYPES; SKILLS; SHOW
AB Although children with Autism spectrum disorders (ASD) show significant variation in language skills, research on what type(s) of language profiles they demonstrate has been limited. Using growth-curve analyses, we investigated how different groups of young children with ASD show increases in the size of their lexicon, morpho-syntactic production as measured by Brown's 14 grammatical morphemes, and wh-question complexity, compared to TD children, across six time points. Children with ASD who had higher verbal skills were comparable to TD children on most language measures, whereas the children with ASD who had low verbal skills had flatter trajectories in most language measures. Thus, two distinct language profiles emerged for children with ASD.
C1 [Tek, Saime] Bilkent Univ, Dept Psychol, TR-06800 Ankara, Turkey.
[Mesite, Laura] Brown Univ, Providence, RI 02912 USA.
[Fein, Deborah; Naigles, Letitia] Univ Connecticut, Storrs, CT 06269 USA.
RP Tek, S (reprint author), Bilkent Univ, Dept Psychol, TR-06800 Ankara, Turkey.
EM teksaime@gmail.com
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NR 48
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 JAN
PY 2014
VL 44
IS 1
BP 75
EP 89
DI 10.1007/s10803-013-1853-4
PG 15
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000008
PM 23719855
ER
PT J
AU Shuster, J
Perry, A
Bebko, J
Toplak, ME
AF Shuster, Jill
Perry, Adrienne
Bebko, James
Toplak, Maggie E.
TI Review of Factor Analytic Studies Examining Symptoms of Autism Spectrum
Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Review
DE Autism; Symptoms structure; Factor analysis; Review
ID PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC-OBSERVATION-SCHEDULE;
REPETITIVE BEHAVIORS; RATING-SCALE; YOUNG-CHILDREN; REVISED ALGORITHMS;
SAMPLE-SIZE; DSM-IV; INTERVIEW; VALIDITY
AB Factor analytic studies have been conducted to examine the inter-relationships and degree of overlap among symptoms in Autism Spectrum Disorder (ASD). This paper reviewed 36 factor analytic studies that have examined ASD symptoms, using 13 different instruments. Studies were grouped into three categories: Studies with all DSM-IV symptoms, studies with a subset of DSM-IV symptoms, and studies with symptoms that were not specifically based on the DSM-IV. There was consistent support for a common social/communication domain that is distinct from a restricted and repetitive behaviours and interests domain. Implications for symptom conceptualization and diagnosis in ASD are discussed.
C1 [Shuster, Jill; Toplak, Maggie E.] York Univ, LaMarsh Ctr Child & Youth Res, Toronto, ON M3J 1P3, Canada.
[Perry, Adrienne; Bebko, James] York Univ, Toronto, ON M3J 1P3, Canada.
[Toplak, Maggie E.] York Univ, Dept Psychol, Toronto, ON M3J 1P3, Canada.
RP Toplak, ME (reprint author), York Univ, Dept Psychol, 4700 Keele St,126 BSB, Toronto, ON M3J 1P3, Canada.
EM jillshuster@gmail.com; mtoplak@yorku.ca
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NR 72
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 JAN
PY 2014
VL 44
IS 1
BP 90
EP 110
DI 10.1007/s10803-013-1854-3
PG 21
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000009
PM 23729334
ER
PT J
AU Jansch, C
Hare, DJ
AF Jaensch, Claire
Hare, Dougal Julian
TI An Investigation of the "Jumping to Conclusions" Data-Gathering Bias and
Paranoid Thoughts in Asperger Syndrome
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Reasoning biases; Jumping to conclusions; Asperger syndrome; Anxiety;
Depressions; Paranoia
ID DELUSION-PRONE INDIVIDUALS; PERSECUTORY DELUSIONS; FUNCTIONING AUTISM;
TO-CONCLUSIONS; INFERENCE TASK; DISORDER; BELIEFS; PEOPLE; ADULTS;
SCHIZOPHRENIA
AB The existence of a data-gathering bias, in the form of jumping to conclusions, and links to paranoid ideation was investigated in Asperger syndrome (AS). People with AS (N = 30) were compared to a neurotypical control group (N = 30) on the Reading the Mind in the Eyes and the Beads tasks, with self-report measures of depression, general anxiety, social anxiety, self-consciousness and paranoid ideation. The AS group performed less well than the control group on the Reading the Mind in the Eyes Task with regard to accuracy but responded more quickly and tended to make decisions on the basis of less evidence on the Beads Task with 50 % demonstrating a clear 'jumping to conclusions bias', whereas none of the control group showed such a bias. Depression and general anxiety were associated with paranoid ideation but not data-gathering style, which was contrary to expectation.
C1 [Jaensch, Claire; Hare, Dougal Julian] Univ Manchester, Sch Psychol Sci, Manchester M13 9PL, Lancs, England.
RP Hare, DJ (reprint author), Univ Manchester, Sch Psychol Sci, Zochonis Bldg,Brunswick St, Manchester M13 9PL, Lancs, England.
EM dougal.hare@manchester.ac.uk
RI Nagra, Sasha/I-8863-2014
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NR 66
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 JAN
PY 2014
VL 44
IS 1
BP 111
EP 119
DI 10.1007/s10803-013-1855-2
PG 9
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000010
PM 23933997
ER
PT J
AU Ouellette-Kuntz, H
Coo, H
Lam, M
Breitenbach, MM
Hennessey, PE
Jackman, PD
Lewis, MES
Dewey, D
Bernier, FP
Chung, AM
AF Ouellette-Kuntz, Helene
Coo, Helen
Lam, Miu
Breitenbach, Marlene M.
Hennessey, Paula E.
Jackman, Paulette D.
Lewis, M. E. Suzanne
Dewey, Deborah
Bernier, Francois P.
Chung, Amy M.
TI The changing prevalence of autism in three regions of Canada
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Surveillance; Canada; NEDSAC
ID SPECTRUM DISORDERS; BEHAVIORAL INTERVENTION; AGE; DIAGNOSIS; CHILDREN;
RATES; EPIDEMIOLOGY; REGRESSION; TAIWAN; HEALTH
AB In 2002/2003, the National Epidemiologic Database for the Study of Autism in Canada started capturing information on children diagnosed with autism in different regions of the country. Based on data collected through 2008 in Newfoundland and Labrador and 2010 in Prince Edward Island and Southeastern Ontario, the estimated average annual percent increases in prevalence among children 2-14 years of age ranged from 9.7 % (95 % CI 7.8-11.6) to 14.6 % (95 % CI 11.3-18.0). Differential in-migration and identification of previously undetected cases may have contributed in part to the increases observed, but we cannot rule out the possibility of a true increase in incidence, particularly given the lack of a leveling-off of prevalence among the 6- to 9-year olds.
C1 [Ouellette-Kuntz, Helene; Coo, Helen; Lam, Miu] Queens Univ, Dept Publ Hlth Sci, Kingston, ON K7L 3N6, Canada.
[Ouellette-Kuntz, Helene; Coo, Helen; Lewis, M. E. Suzanne; Dewey, Deborah; Bernier, Francois P.] ASD CARC, Kingston, ON K7M 8A6, Canada.
[Ouellette-Kuntz, Helene] Ongwanada Resource Ctr, Kingston, ON K7M 8A6, Canada.
[Breitenbach, Marlene M.] Dept Educ & Early Childhood Dev, Summerside, PE C1N 1B6, Canada.
[Hennessey, Paula E.] Dept Hlth & Community Serv, St John, NF A1B 4J6, Canada.
[Lewis, M. E. Suzanne] Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada.
[Lewis, M. E. Suzanne] Univ British Columbia, Childrens & Womens Hlth Ctr BC, Vancouver, BC V6H 3N1, Canada.
[Dewey, Deborah] Univ Calgary, Dept Pediat, Calgary, AB T2N 4Z6, Canada.
[Dewey, Deborah] Univ Calgary, Dept Community Hlth Sci, Calgary, AB T2N 4Z6, Canada.
[Dewey, Deborah] Alberta Childrens Prov Gen Hosp, Behav Res Unit, Calgary, AB T3B 6A8, Canada.
[Bernier, Francois P.] Univ Calgary, Dept Med Genet, Calgary, AB T2N 4N1, Canada.
[Chung, Amy M.] Queens Univ, Dept Community Hlth & Epidemiol, Kingston, ON K7L 3N6, Canada.
RP Ouellette-Kuntz, H (reprint author), Queens Univ, Dept Publ Hlth Sci, Carruthers Hall, Kingston, ON K7L 3N6, Canada.
EM helene.kuntz@queensu.ca
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT, V4
Autism and Developmental Disabilities Monitoring Network Surveillance Year, 2007, MMWR SURVEILL SUMM, V56, P12
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NR 38
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 JAN
PY 2014
VL 44
IS 1
BP 120
EP 136
DI 10.1007/s10803-013-1856-1
PG 17
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000011
PM 23771514
ER
PT J
AU Moseley, RL
Pulvermuller, F
Mohr, B
Lombardo, MV
Baron-Cohen, S
Shtyrov, Y
AF Moseley, Rachel L.
Pulvermueller, Friedemann
Mohr, Bettina
Lombardo, Michael V.
Baron-Cohen, Simon
Shtyrov, Yury
TI Brain Routes for Reading in Adults with and without Autism: EMEG
Evidence
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Reading; Dual-route model; Hyperlexia; Semantics; EEG; MEG
ID HIGH-FUNCTIONING AUTISM; INFERIOR PREFRONTAL CORTEX; VISUAL WORD
RECOGNITION; LONG-TERM-MEMORY; SPECTRUM DISORDERS; YOUNG-CHILDREN;
TIME-COURSE; FORM AREA; LANGUAGE; MOTOR
AB Reading utilises at least two neural pathways. The temporal lexical route visually maps whole words to their lexical entries, whilst the nonlexical route decodes words phonologically via parietal cortex. Readers typically employ the lexical route for familiar words, but poor comprehension plus precocity at mechanically 'sounding out' words suggests that differences might exist in autism. Combined MEG/EEG recordings of adults with autistic spectrum conditions (ASC) and controls while reading revealed preferential recruitment of temporal areas in controls and additional parietal recruitment in ASC. Furthermore, a lack of differences between semantic word categories was consistent with previous suggestion that people with ASC may lack a 'default' lexical-semantic processing mode. These results are discussed with reference to dual-route models of reading.
C1 [Moseley, Rachel L.; Shtyrov, Yury] MRC Cognit & Brain Sci Unit, Cambridge CB2 7EF, England.
[Pulvermueller, Friedemann] Free Univ Berlin, Dept Philosophy & Humanities, Brain Language Lab, Berlin, Germany.
[Mohr, Bettina] Anglia Ruskin Univ, Cambridge, England.
[Lombardo, Michael V.; Baron-Cohen, Simon] Univ Cambridge, Autism Res Ctr, Dept Psychiat, Cambridge, England.
[Shtyrov, Yury] Aarhus Univ, Ctr Functionally Integrat Neurosci, Aarhus, Denmark.
[Shtyrov, Yury] Lund Univ, Ctr Languages & Literature, Lund, Sweden.
RP Moseley, RL (reprint author), MRC Cognit & Brain Sci Unit, 15 Chaucer Rd, Cambridge CB2 7EF, England.
EM rachel.moseley@mrc-cbu.cam.ac.uk; yury.shtyrov@cfin.au.dk
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NR 121
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 JAN
PY 2014
VL 44
IS 1
BP 137
EP 153
DI 10.1007/s10803-013-1858-z
PG 17
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000012
PM 23748435
ER
PT J
AU Hudry, K
Chandler, S
Bedford, R
Pasco, G
Gliga, T
Elsabbagh, M
Johnson, MH
Charman, T
AF Hudry, Kristelle
Chandler, Susie
Bedford, Rachael
Pasco, Greg
Gliga, Teodora
Elsabbagh, Mayada
Johnson, Mark H.
Charman, Tony
TI Early Language Profiles in Infants at High-Risk for Autism Spectrum
Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Broader autism phenotype; High-risk siblings;
Receptive language; Expressive language; Language profiles
ID COMMUNICATIVE DEVELOPMENT; CHILDREN; PRESCHOOLERS; IMPAIRMENT;
VOCABULARY; ABILITIES; TODDLERS
AB Many preschoolers with autism spectrum disorders (ASD) present relative lack of receptive advantage over concurrent expressive language. Such profile emergence was investigated longitudinally in 54 infants at high-risk (HR) for ASD and 50 low-risk controls, with three language measures taken across four visits (around 7, 14, 24, 38 months). HR infants presented three outcome subgroups: ASD, other atypicality, and typical development. Reduced receptive vocabulary advantage was observed in HR infants by 14 months, but was maintained to 24 months only in ASD/other atypicality outcome subgroups while typically-developing HR infants regained a more normative profile. Few group differences appeared on a direct assessment of language and parent-reported functional communication. Processes of early development toward ASD outcome and in intermediate phenotypes are discussed.
C1 [Hudry, Kristelle] La Trobe Univ, Sch Psychol Sci, Olga Tennison Autism Res Ctr, Melbourne, Vic 3086, Australia.
[Chandler, Susie; Pasco, Greg; Charman, Tony] Kings Coll London, Inst Psychiat, Dept Psychol, London WC2R 2LS, England.
[Bedford, Rachael] Kings Coll London, Inst Psychiat, Dept Biostat, London WC2R 2LS, England.
[Gliga, Teodora; Elsabbagh, Mayada; Johnson, Mark H.] Univ London, Ctr Brain & Cognit Dev, London, England.
[Elsabbagh, Mayada] McGill Univ, Dept Psychiat, Montreal, PQ, Canada.
RP Hudry, K (reprint author), La Trobe Univ, Sch Psychol Sci, Olga Tennison Autism Res Ctr, Melbourne, Vic 3086, Australia.
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RI Charman, Tony/A-2085-2014
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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 JAN
PY 2014
VL 44
IS 1
BP 154
EP 167
DI 10.1007/s10803-013-1861-4
PG 14
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000013
PM 23748385
ER
PT J
AU Kanne, SM
Mazurek, MO
Sikora, D
Bellando, J
Branum-Martin, L
Handen, B
Katz, T
Freedman, B
Powell, MP
Warren, Z
AF Kanne, Stephen M.
Mazurek, Micah O.
Sikora, Darryn
Bellando, Jayne
Branum-Martin, Lee
Handen, Benjamin
Katz, Terry
Freedman, Brian
Powell, Mary Paige
Warren, Zachary
TI The Autism Impact Measure (AIM): Initial Development of a New Tool for
Treatment Outcome Measurement
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Outcome; Treatment; Symptoms; Impairment
ID RECIPROCAL SOCIAL-BEHAVIOR; SPECTRUM DISORDERS; RATING-SCALE; DIAGNOSTIC
INTERVIEW; CHILDHOOD AUTISM; RESPONSE CATEGORIES; OPTIMAL NUMBER;
CHILDREN; INTERVENTION; VALIDATION
AB The current study describes the development and psychometric properties of a new measure targeting sensitivity to change of core autism spectrum disorder (ASD) symptoms, the Autism Impact Measure (AIM). The AIM uses a 2-week recall period with items rated on two corresponding 5-point scales (frequency and impact). Psychometric properties were examined using a large sample (n = 440) of children with ASD enrolled in the Autism Treatment Network. The exploratory factor analysis indicated four factors and resulted in a 25-item questionnaire with excellent overall model fit. Test-retest reliability, cross-informant reliability, and convergent validity with other measures of ASD symptoms and overall functioning were strong. The AIM is a reliable and valid measure of frequency and impact of core ASD symptoms.
C1 [Kanne, Stephen M.; Mazurek, Micah O.] Univ Missouri, Columbia, MO 65212 USA.
[Kanne, Stephen M.] Univ Missouri, Thompson Ctr Autism & Neurodev Disorders, Dept Hlth Psychol, Columbia, MO 65211 USA.
[Sikora, Darryn] Providence Neurodev Ctr Children, Portland, OR 97213 USA.
[Bellando, Jayne] Univ Arkansas Med Sci, Little Rock, AR 72202 USA.
[Branum-Martin, Lee] Georgia State Univ, Atlanta, GA 30302 USA.
[Handen, Benjamin] Univ Pittsburgh, Pittsburgh, PA 15203 USA.
[Katz, Terry] Univ Colorado, Sch Med, Aurora, CO 80045 USA.
[Freedman, Brian] Univ Delaware, Newark, DE 19716 USA.
[Powell, Mary Paige] Cornerstone Behav Med, High Point, NC 27265 USA.
[Warren, Zachary] Vanderbilt Kennedy Ctr, Nashville, TN 37203 USA.
RP Kanne, SM (reprint author), Univ Missouri, Thompson Ctr Autism & Neurodev Disorders, Dept Hlth Psychol, 205 Portland St, Columbia, MO 65211 USA.
EM kannest@missouri.edu
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NR 55
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 JAN
PY 2014
VL 44
IS 1
BP 168
EP 179
DI 10.1007/s10803-013-1862-3
PG 12
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000014
PM 23748386
ER
PT J
AU Bouck, EC
Satsangi, R
Doughty, TT
Courtney, WT
AF Bouck, Emily C.
Satsangi, Rajiv
Doughty, Teresa Taber
Courtney, William T.
TI Virtual and Concrete Manipulatives: A Comparison of Approaches for
Solving Mathematics Problems for Students with Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Mathematics; Academic content; ASD; Elementary
ID MODERATE INTELLECTUAL DISABILITIES; COMPUTER-ASSISTED-INSTRUCTION;
OUTPUT COMMUNICATION AID; TEACH ADDITION FACTS; LEAST PROMPTS; CHILDREN;
SKILLS; VOCABULARY; PROGRAM; SYSTEM
AB Students with autism spectrum disorder (ASD) are included in general education classes and expected to participate in general education content, such as mathematics. Yet, little research explores academically-based mathematics instruction for this population. This single subject alternating treatment design study explored the effectiveness of concrete (physical objects that can be manipulated) and virtual (3-D objects from the Internet that can be manipulated) manipulatives to teach single- and double-digit subtraction skills. Participants in this study included three elementary-aged students (ages ranging from 6 to 10) diagnosed with ASD. Students were selected from a clinic-based setting, where all participants received medically necessary intensive services provided via one-to-one, trained therapists. Both forms of manipulatives successfully assisted students in accurately and independently solving subtraction problem. However, all three students demonstrated greater accuracy and faster independence with the virtual manipulatives as compared to the concrete manipulatives. Beyond correctly solving the subtraction problems, students were also able to generalize their learning of subtraction through concrete and virtual manipulatives to more real-world applications.
C1 [Bouck, Emily C.; Satsangi, Rajiv; Doughty, Teresa Taber; Courtney, William T.] Purdue Univ, Dept Educ Studies, W Lafayette, IN 47907 USA.
RP Bouck, EC (reprint author), Purdue Univ, Dept Educ Studies, 100 N Univ St, W Lafayette, IN 47907 USA.
EM bouck@purdue.edu
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NR 53
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD JAN
PY 2014
VL 44
IS 1
BP 180
EP 193
DI 10.1007/s10803-013-1863-2
PG 14
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000015
PM 23743958
ER
PT J
AU Kamio, Y
Inada, N
Koyama, T
Inokuchi, E
Tsuchiya, K
Kuroda, M
AF Kamio, Yoko
Inada, Naoko
Koyama, Tomonori
Inokuchi, Eiko
Tsuchiya, Kenji
Kuroda, Miho
TI Effectiveness of Using the Modified Checklist for Autism in Toddlers in
Two-Stage Screening of Autism Spectrum Disorder at the 18-Month Health
Check-Up in Japan
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Community-based surveillance; Early detection;
Modified Checklist for Autism in Toddlers (M-CHAT); Screening
ID PERVASIVE DEVELOPMENTAL DISORDERS; RATING-SCALE; CHILDREN; POPULATION;
IDENTIFICATION; QUESTIONNAIRE; CHILDHOOD; DIAGNOSIS; INTERVIEW; VALIDITY
AB To determine whether the Modified Checklist for Autism in Toddlers (M-CHAT) in conjunction with the routine 18-month health check-up identifies Japanese toddlers with autism spectrum disorder (ASD). Two-stage screening using the M-CHAT was conducted with 1,851 children attending the check-up. Final ASD diagnosis was confirmed at age a parts per thousand yen3 years. Screening identified 20/51 children with ASD: 12/20 true positives were developmentally delayed, whereas 16/22 false negatives were high-functioning. Sensitivity was 0.476, specificity 0.986, positive predictive value 0.455, and likelihood ratio 33.4 for children with ASD. With a few modifications, M-CHAT screening successfully detected toddlers with ASD with and without developmental delay and is a promising screening tool to complement existing community surveillance.
C1 [Kamio, Yoko; Inada, Naoko; Koyama, Tomonori; Inokuchi, Eiko; Kuroda, Miho] Natl Ctr Neurol & Psychiat, Natl Inst Mental Hlth, Dept Child & Adolescent Mental Hlth, Kodaira, Tokyo 1878553, Japan.
[Tsuchiya, Kenji] Hamamatsu Univ, Sch Med, United Grad Sch Child Dev, Res Ctr Child Mental Dev, Hamamatsu, Shizuoka 4312102, Japan.
RP Kamio, Y (reprint author), Natl Ctr Neurol & Psychiat, Natl Inst Mental Hlth, Dept Child & Adolescent Mental Hlth, 4-1-1 Ogawa Higashi, Kodaira, Tokyo 1878553, Japan.
EM kamio@ncnp.go.jp; nainada-tky@umin.ac.jp; tomok-tky@umin.ac.jp;
eiko_i@osa.att.ne.jp; tsuchiya@hama-med.ac.jp; pr6m-krd@asahi-net.or.jp
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NR 35
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 JAN
PY 2014
VL 44
IS 1
BP 194
EP 203
DI 10.1007/s10803-013-1864-1
PG 10
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000016
PM 23740200
ER
PT J
AU Martin, J
Hamshere, ML
O'Donovan, MC
Rutter, M
Thapar, A
AF Martin, Joanna
Hamshere, Marian L.
O'Donovan, Michael C.
Rutter, Michael
Thapar, Anita
TI Factor Structure of Autistic Traits in Children with ADHD
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE ADHD; ASD; Factor analysis; Neurodevelopment
ID DEFICIT-HYPERACTIVITY-DISORDER; ATTENTION-DEFICIT/HYPERACTIVITY
DISORDER; SOCIAL COMMUNICATION QUESTIONNAIRE; PSYCHIATRIC-ASSESSMENT
CAPA; SPECTRUM DISORDER; GENERAL-POPULATION; INTELLECTUAL DISABILITY;
ANXIETY DISORDERS; GENETIC OVERLAP; FAMILIAL TRAIT
AB Attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) often co-occur. Factor analyses of ASD traits in children with and without ASD indicate the presence of social and restrictive-repetitive behaviour (RRB) factors. This study used exploratory factor analyses to determine the structure of ASD traits (assessed using the Social Communication Questionnaire) in children with ADHD. Distinct factors were observed for 'social' and 'rigidity' traits, corresponding to previous factor analyses in clinical ASD and population samples. This indicates that the split between social-communicative and RRB dimensions is unaffected by ADHD in children. Moreover, the study also finds that there is some overlap across hyperactive-impulsive symptoms and RRB traits in children with ADHD, which merits further investigation.
C1 [Martin, Joanna; Hamshere, Marian L.; O'Donovan, Michael C.; Thapar, Anita] Cardiff Univ, Sch Med, MRC Ctr Neuropsychiat Genet & Genom, Inst Psychol Med & Clin Neurosci, Cardiff CF14 4XN, S Glam, Wales.
[Rutter, Michael] Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr SGDP, London SE5 8AF, England.
RP Martin, J (reprint author), Cardiff Univ, Sch Med, MRC Ctr Neuropsychiat Genet & Genom, Inst Psychol Med & Clin Neurosci, Heath Pk, Cardiff CF14 4XN, S Glam, Wales.
EM martinjm1@cardiff.ac.uk
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NR 54
TC 0
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 JAN
PY 2014
VL 44
IS 1
BP 204
EP 215
DI 10.1007/s10803-013-1865-0
PG 12
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000017
PM 23748436
ER
PT J
AU Malow, BA
Adkins, KW
Reynolds, A
Weiss, SK
Loh, A
Fawkes, D
Katz, T
Goldman, SE
Madduri, N
Hundley, R
Clemons, T
AF Malow, Beth A.
Adkins, Karen W.
Reynolds, Ann
Weiss, Shelly K.
Loh, Alvin
Fawkes, Diane
Katz, Terry
Goldman, Suzanne E.
Madduri, Niru
Hundley, Rachel
Clemons, Traci
TI Parent-Based Sleep Education for Children with Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Insomnia; Actigraphy; Children's Sleep Habits Questionnaire; Repetitive
Behavior Scale-Revised; Child Behavior Checklist
ID PERVASIVE DEVELOPMENTAL DISORDERS; HABITS QUESTIONNAIRE; REPETITIVE
BEHAVIOR; STRESS; ACTIGRAPHY; CORTISOL; QUALITY; DISTURBANCES;
VALIDATION; TODDLERS
AB This study provided sleep education to parents of children with autism spectrum disorder (ASD) to determine whether an individual or group format was more effective in improving sleep and aspects of daytime behavior and family functioning. Eighty children, ages 2-10 years, with ASD and sleep onset delay completed the study. Actigraphy and parent questionnaires were collected at baseline and 1 month after treatment. Mode of education did not affect outcomes. Sleep latency, insomnia subscales on the Children's Sleep Habits Questionnaire, and other outcomes related to child and family functioning improved with treatment. Parent-based sleep education, delivered in relatively few sessions, was associated with improved sleep onset delay in children with ASD. Group versus individualized education did not affect outcome.
C1 [Malow, Beth A.; Adkins, Karen W.; Fawkes, Diane; Goldman, Suzanne E.] Vanderbilt Univ, Sch Med, Dept Neurol, Sleep Disorders Div, Nashville, TN 37232 USA.
[Malow, Beth A.; Adkins, Karen W.; Fawkes, Diane; Goldman, Suzanne E.] Vanderbilt Univ, Sch Med, Vanderbilt Kennedy Ctr, Nashville, TN 37232 USA.
[Reynolds, Ann; Katz, Terry] Univ Colorado Denver, Univ Colorado, Sch Med, Dept Pediat, Aurora, CO 80045 USA.
[Weiss, Shelly K.] Univ Toronto, Hosp Sick Children, Toronto, ON M5G 1X8, Canada.
[Loh, Alvin] Surrey Pl Ctr, Toronto, ON M5S 2C2, Canada.
[Madduri, Niru; Hundley, Rachel] Vanderbilt Univ, Sch Med, Monroe Carell Jr Childrens Hosp Vanderbilt, Dept Pediat, Nashville, TN 37232 USA.
[Clemons, Traci] EMMES Corp, Rockville, MD 20850 USA.
RP Malow, BA (reprint author), Vanderbilt Univ, Sch Med, Dept Neurol, Sleep Disorders Div, 1161 21st Ave South,Room A-0116, Nashville, TN 37232 USA.
EM beth.malow@vanderbilt.edu
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Wechsler D., 2003, WECHSLER INTELLIGENC
NR 53
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 JAN
PY 2014
VL 44
IS 1
BP 216
EP 228
DI 10.1007/s10803-013-1866-z
PG 13
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000018
PM 23754339
ER
PT J
AU Zachor, DA
Ben-Itzchak, E
AF Zachor, Ditza A.
Ben-Itzchak, Esther
TI The Relationship Between Clinical Presentation and Unusual Sensory
Interests in Autism Spectrum Disorders: A Preliminary Investigation
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Unusual sensory interests; Negative sensory
responses; Autism severity; Adaptive skills; Cognitive ability
ID YOUNG-CHILDREN; DIAGNOSIS; PATTERNS; SUBTYPES
AB Unusual responses to sensory stimuli have been described in autism spectrum disorder (ASD).The study examined the frequencies of 'unusual sensory interests' and 'negative sensory responses' and their relation to functioning in a large ASD population (n = 679). Having 'unusual sensory interests' was reported in 70.4 % and 'negative sensory responses' in 66.0 % of the ASD group. Having 'unusual sensory interests' was associated with more severe reported and observed autism symptoms, lower cognitive ability and lower adaptive skills. In contrast, having 'negative sensory responses' was only associated with more severe reported stereotyped behaviors. It is suggested that having 'unusual sensory interests' is a part of a primary more severe type of ASD involving numerous developmental domains that might have a unique neurobiological origin.
C1 [Zachor, Ditza A.] Assaf Harofeh Med Ctr, Autism Ctr, Dept Pediat, IL-70300 Zerifin, Israel.
[Zachor, Ditza A.] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel.
[Ben-Itzchak, Esther] Assaf Harofeh Med Ctr, Autism Ctr, IL-70300 Zerifin, Israel.
[Ben-Itzchak, Esther] Ariel Univ, Dept Commun Disorders, IL-40700 Ariel, Israel.
RP Zachor, DA (reprint author), Assaf Harofeh Med Ctr, Autism Ctr, Dept Pediat, IL-70300 Zerifin, Israel.
EM dzachor@smile.net.il
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NR 33
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 JAN
PY 2014
VL 44
IS 1
BP 229
EP 235
DI 10.1007/s10803-013-1867-y
PG 7
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000019
ER
PT J
AU Holt, S
Yuill, N
AF Holt, Samantha
Yuill, Nicola
TI Facilitating Other-Awareness in Low-Functioning Children with Autism and
Typically-Developing Preschoolers Using Dual-Control Technology
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Childhood autism; Other-awareness; Collaboration; Social cognitive
development; Computer technology; Separate control of shared space
ID JOINT ATTENTION INTERVENTION; YOUNG-CHILDREN; 2ND YEAR; LANGUAGE;
SPECTRUM; PLAY; SELF; INSTRUCTION; COOPERATION; INTENTIONS
AB Children with autism are said to lack other-awareness, which restricts their opportunities for peer collaboration. We assessed other-awareness in non-verbal children with autism and typically-developing preschoolers collaborating on a shared computerised picture-sorting task. The studies compared a novel interface, designed to support other-awareness, with a standard interface, with adult and peer partners. The autism group showed no active other-awareness using the standard interface, but revealed clear active other-awareness using the supportive interface. Both groups displayed more other-awareness with the technology than without and also when collaborating with a peer than with an adult partner. We argue that children with autism possess latent abilities to coordinate social interaction that only become evident with appropriate support.
C1 [Holt, Samantha; Yuill, Nicola] Univ Sussex, Sch Psychol, Falmer BN1 9QH, E Sussex, England.
RP Holt, S (reprint author), Univ Sussex, Sch Psychol, Pevensey Bldg, Falmer BN1 9QH, E Sussex, England.
EM s.holt@sussex.ac.uk
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NR 40
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 JAN
PY 2014
VL 44
IS 1
BP 236
EP 248
DI 10.1007/s10803-013-1868-x
PG 13
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000020
PM 23756935
ER
PT J
AU Scahill, L
Dimitropoulos, A
McDougle, CJ
Aman, MG
Feurer, ID
McCracken, JT
Tierney, E
Pu, J
White, S
Lecavalier, L
Hallett, V
Bearss, K
King, B
Arnold, LE
Vitiello, B
AF Scahill, Lawrence
Dimitropoulos, Anastasia
McDougle, Christopher J.
Aman, Michael G.
Feurer, Irene D.
McCracken, James T.
Tierney, Elaine
Pu, Jie
White, Susan
Lecavalier, Luc
Hallett, Victoria
Bearss, Karen
King, Bryan
Arnold, L. Eugene
Vitiello, Benedetto
TI Children's Yale-Brown Obsessive Compulsive Scale in Autism Spectrum
Disorder: Component Structure and Correlates of Symptom Checklist
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE autism spectrum disorder; clinical trials; outcome measures; repetitive
behavior
ID PERVASIVE DEVELOPMENTAL DISORDERS; SERIOUS BEHAVIORAL-PROBLEMS;
REPETITIVE BEHAVIOR; RISPERIDONE; QUESTIONNAIRE; RELIABILITY;
VALIDATION; INTERVIEW; TRIAL; SELF
AB Objective: Repetitive behaviors in autism spectrum disorders (ASD) range from motor stereotypy to immersion in restricted interests. The modified Children's Yale Brown Obsessive Compulsive Scale for children with autism spectrum disorder (CYBOCS-ASD) includes a Symptom Checklist (behavior present or absent) and 5 severity scales (Time Spent, Interference, Distress, Resistance and Control). Method: We assembled CYBOCS-ASD data from 3 Research Units on Pediatric Psychopharmacology Autism Network trials to explore the component structure of repetitive behaviors in children with ASD. Raters trained to reliability conducted the CYBOCS-ASD in 272 medication-free subjects. Fifteen Symptom Checklist items were endorsed for less than 5% of the sample and were dropped. Principal component analysis was used to explore the clustering of 23 checklist items. Component scores computed for each subject were correlated with other measures. We also examined the distribution of severity scales. Results: The subjects (229 boys and 43 girls; mean age = 7.8 +/- 2.6 years) met criteria for an ASD; half were intellectually disabled. The PCA resulted in a 5-component solution to classify repetitive behaviors (34.4% of the variance): hoarding and ritualistic behavior; sensory and arranging behavior; sameness and self-injurious behavior; stereotypy; restricted interests. Sensory and arranging and stereotypy components were associated with lower adaptive functioning (Pearson r = 0.2-0.3; p < .003). The resistance scale showed little variation, with more than 60% of the sample with the highest score. Conclusions: Rarely endorsed items can be dropped from the Checklist. The resistance item does not appear to be relevant for children with ASD.
C1 [Scahill, Lawrence; Bearss, Karen] Emory Univ, Atlanta, GA 30322 USA.
[Dimitropoulos, Anastasia] Case Western Reserve Univ, Cleveland, OH 44106 USA.
[McDougle, Christopher J.] Harvard Univ, Cambridge, MA 02138 USA.
[Aman, Michael G.; Lecavalier, Luc; Arnold, L. Eugene] Ohio State Univ, Columbus, OH 43210 USA.
[Feurer, Irene D.] Vanderbilt Univ, Sch Med, Nashville, TN 37212 USA.
[McCracken, James T.] Univ Calif Los Angeles, Los Angeles, CA 90024 USA.
[Tierney, Elaine] Johns Hopkins Univ, Baltimore, MD 21218 USA.
[Pu, Jie] Univ Arizona, Tucson, AZ 85721 USA.
[White, Susan] Virginia Polytech Univ, Blacksburg, VA 24061 USA.
[Hallett, Victoria] Kings Coll London, London WC2R 2LS, England.
[King, Bryan] Univ Washington, Seattle, WA 98195 USA.
[Vitiello, Benedetto] NIMH, Bethesda, MD USA.
RP Scahill, L (reprint author), Marcus Ctr, 1920 Briarcliff Rd, Atlanta, GA 30329 USA.
EM lawrence.scahill@emory.edu
FU NIMH by Research Unit on Pediatric Psychopharmacology (RUPP), Yale
[U10MH66764]; NIMH by Research Unit on Pediatric Psychopharmacology
(RUPP), Indiana University [U10MH66766]; NIMH by Research Unit on
Pediatric Psychopharmacology (RUPP), Ohio, State University
[U10MH66768]; Yale CTSA from the National Center for Research Resources
(NCRR) [UL1 RR024139]; IU CTSA from the National Center for Research
Resources (NCRR) [UL1 RR025761]; OSU CTSA from the National Center for
Research Resources (NCRR) [UL1 RR025755]
FX This work was funded by NIMH by the following Research Units on
Pediatric Psychopharmacology (RUPP) grants: Yale, U10MH66764; Indiana
University, U10MH66766, and Ohio, State University, U10MH66768. This
publication was also supported by the Yale CTSA, UL1 RR024139, IU CTSA
UL1 RR025761, OSU CTSA UL1 RR025755 from the National Center for
Research Resources (NCRR).
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NR 35
TC 1
Z9 1
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 JAN
PY 2014
VL 53
IS 1
BP 97
EP 107
DI 10.1016/j.jaac.2013.09.018
PG 11
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA 280GG
UT WOS:000329016100011
PM 24342389
ER
PT J
AU Steinberg, S
de Jong, S
Mattheisen, M
Costas, J
Demontis, D
Jamain, S
Pietilainen, OPH
Lin, K
Papiol, S
Huttenlocher, J
Sigurdsson, E
Vassos, E
Giegling, I
Breuer, R
Fraser, G
Walker, N
Melle, I
Djurovic, S
Agartz, I
Tuulio-Henriksson, A
Suvisaari, J
Lonnqvist, J
Paunio, T
Olsen, L
Hansen, T
Ingason, A
Pirinen, M
Strengman, E
Hougaard, DM
Orntoft, T
Didriksen, M
Hollegaard, MV
Nordentoft, M
Abramova, L
Kaleda, V
Arrojo, M
Sanjuan, J
Arango, C
Etain, B
Bellivier, F
Meary, A
Schurhoff, F
Szoke, A
Ribolsi, M
Magni, V
Siracusano, A
Sperling, S
Rossner, M
Christiansen, C
Kiemeney, LA
Franke, B
van den Berg, LH
Veldink, J
Curran, S
Bolton, P
Poot, M
Staal, W
Rehnstrom, K
Kilpinen, H
Freitag, CM
Meyer, J
Magnusson, P
Saemundsen, E
Martsenkovsky, I
Bikshaieva, I
Martsenkovska, I
Vashchenko, O
Raleva, M
Paketchieva, K
Stefanovski, B
Durmishi, N
Milovancevic, MP
Tosevski, DL
Silagadze, T
Naneishvili, N
Mikeladze, N
Surguladze, S
Vincent, JB
Farmer, A
Mitchell, PB
Wright, A
Schofield, PR
Fullerton, JM
Montgomery, GW
Martin, NG
Rubino, IA
van Winkel, R
Kenis, G
De Hert, M
Rethelyi, JM
Bitter, I
Terenius, L
Jonsson, EG
Bakker, S
van Os, J
Jablensky, A
Leboyer, M
Bramon, E
Powell, J
Murray, R
Corvin, A
Gill, M
Morris, D
O'Neill, FA
Kendler, K
Riley, B
Craddock, N
Owen, MJ
O'Donovan, MC
Thorsteinsdottir, U
Kong, A
Ehrenreich, H
Carracedo, A
Golimbet, V
Andreassen, OA
Borglum, AD
Mors, O
Mortensen, PB
Werge, T
Ophoff, RA
Nothen, MM
Rietschel, M
Cichon, S
Ruggeri, M
Tosato, S
Palotie, A
St Clair, D
Rujescu, D
Collier, DA
Stefansson, H
Stefansson, K
AF Steinberg, S.
de Jong, S.
Mattheisen, M.
Costas, J.
Demontis, D.
Jamain, S.
Pietilainen, O. P. H.
Lin, K.
Papiol, S.
Huttenlocher, J.
Sigurdsson, E.
Vassos, E.
Giegling, I.
Breuer, R.
Fraser, G.
Walker, N.
Melle, I.
Djurovic, S.
Agartz, I.
Tuulio-Henriksson, A.
Suvisaari, J.
Lonnqvist, J.
Paunio, T.
Olsen, L.
Hansen, T.
Ingason, A.
Pirinen, M.
Strengman, E.
Hougaard, D. M.
Orntoft, T.
Didriksen, M.
Hollegaard, M. V.
Nordentoft, M.
Abramova, L.
Kaleda, V.
Arrojo, M.
Sanjuan, J.
Arango, C.
Etain, B.
Bellivier, F.
Meary, A.
Schuerhoff, F.
Szoke, A.
Ribolsi, M.
Magni, V.
Siracusano, A.
Sperling, S.
Rossner, M.
Christiansen, C.
Kiemeney, L. A.
Franke, B.
van den Berg, L. H.
Veldink, J.
Curran, S.
Bolton, P.
Poot, M.
Staal, W.
Rehnstrom, K.
Kilpinen, H.
Freitag, C. M.
Meyer, J.
Magnusson, P.
Saemundsen, E.
Martsenkovsky, I.
Bikshaieva, I.
Martsenkovska, I.
Vashchenko, O.
Raleva, M.
Paketchieva, K.
Stefanovski, B.
Durmishi, N.
Milovancevic, M. Pejovic
Tosevski, D. Lecic
Silagadze, T.
Naneishvili, N.
Mikeladze, N.
Surguladze, S.
Vincent, J. B.
Farmer, A.
Mitchell, P. B.
Wright, A.
Schofield, P. R.
Fullerton, J. M.
Montgomery, G. W.
Martin, N. G.
Rubino, I. A.
van Winkel, R.
Kenis, G.
De Hert, M.
Rethelyi, J. M.
Bitter, I.
Terenius, L.
Jonsson, E. G.
Bakker, S.
van Os, J.
Jablensky, A.
Leboyer, M.
Bramon, E.
Powell, J.
Murray, R.
Corvin, A.
Gill, M.
Morris, D.
O'Neill, F. A.
Kendler, K.
Riley, B.
Craddock, N.
Owen, M. J.
O'Donovan, M. C.
Thorsteinsdottir, U.
Kong, A.
Ehrenreich, H.
Carracedo, A.
Golimbet, V.
Andreassen, O. A.
Borglum, A. D.
Mors, O.
Mortensen, P. B.
Werge, T.
Ophoff, R. A.
Noethen, M. M.
Rietschel, M.
Cichon, S.
Ruggeri, M.
Tosato, S.
Palotie, A.
St Clair, D.
Rujescu, D.
Collier, D. A.
Stefansson, H.
Stefansson, K.
CA GROUP
Wellcome Trust Case Control Consor
TI Common variant at 16p11.2 conferring risk of psychosis
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE association; bipolar disorder; cross-disorder; schizophrenia; 16p11.2
ID GENOME-WIDE ASSOCIATION; BIPOLAR-DISORDER; GENE-EXPRESSION;
SCHIZOPHRENIA; LOCUS; DISEASE; MICRODELETIONS; AUTISM; METAANALYSIS;
PHENOTYPES
AB Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association study, meta-analysis and follow-up (totaling as many as 18 206 cases and 42 536 controls), we identified four loci showing genome-wide significant association with schizophrenia. Here we consider a mixed schizophrenia and bipolar disorder (psychosis) phenotype (addition of 7469 bipolar disorder cases, 1535 schizophrenia cases, 333 other psychosis cases, 808 unaffected family members and 46 160 controls). Combined analysis reveals a novel variant at 16p11.2 showing genome-wide significant association (rs4583255[T]; odds ratio = 1.08; P = 6.6 x 10(-11)). The new variant is located within a 593-kb region that substantially increases risk of psychosis when duplicated. In line with the association of the duplication with reduced body mass index (BMI), rs4583255[T] is also associated with lower BMI (P = 0.0039 in the public GIANT consortium data set; P = 0.00047 in 22 651 additional Icelanders).
C1 [Steinberg, S.; Huttenlocher, J.; Thorsteinsdottir, U.; Kong, A.; Stefansson, H.; Stefansson, K.] deCODE Genet, IS-101 Reykjavik, Iceland.
[de Jong, S.; Ophoff, R. A.] Univ Calif Los Angeles, Ctr Neurobehav Genet, Los Angeles, CA USA.
[Mattheisen, M.] Harvard Univ, Brigham & Womens Hosp, Sch Med, Channing Div Network Med, Boston, MA 02115 USA.
[Mattheisen, M.] Univ Bonn, Inst Genom Math, Bonn, Germany.
[Mattheisen, M.; Cichon, S.] Univ Bonn, Dept Genom, Life & Brain Ctr, Bonn, Germany.
[Costas, J.] CHUS, Galician Fdn Genom Med SERGAS, Santiago De Compostela, Spain.
[Demontis, D.; Borglum, A. D.] Aarhus Univ, Dept Biomed, Aarhus, Denmark.
[Demontis, D.; Borglum, A. D.] Aarhus Univ, iSEQ, Ctr Integrat Sequencing, Aarhus, Denmark.
[Demontis, D.; Nordentoft, M.; Borglum, A. D.; Mors, O.; Mortensen, P. B.; Werge, T.] Lundbeck Fdn Initiat Integrat Psychiat Res, iPSYCH, Aarhus, Denmark.
[Jamain, S.; Etain, B.; Bellivier, F.; Meary, A.; Schuerhoff, F.; Szoke, A.; Leboyer, M.] Fdn FondaMental, Creteil, France.
[Jamain, S.; Etain, B.; Bellivier, F.; Meary, A.; Schuerhoff, F.; Szoke, A.; Leboyer, M.] Hop Henri Mondor, INSERM, U955, F-94010 Creteil, France.
[Pietilainen, O. P. H.; Rehnstrom, K.; Kilpinen, H.; Palotie, A.] Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland.
[Pietilainen, O. P. H.] Inst Hlth & Welf, Publ Hlth Genom Unit, Helsinki, Finland.
[Pietilainen, O. P. H.; Rehnstrom, K.; Kilpinen, H.; Palotie, A.] Wellcome Trust Sanger Inst, Cambridge, England.
[Lin, K.; Powell, J.] South London & Maudsley NHS Fdn Trust, NIHR Biomed Res Ctr Mental Hlth, Dept Neurosci, London, England.
[Lin, K.; Powell, J.; Murray, R.] Kings Coll London, London, England.
[Papiol, S.; Rossner, M.; Ehrenreich, H.] DFG Res Ctr Mol Physiol Brain CMPB, Gottingen, Germany.
[Papiol, S.; Sperling, S.; Ehrenreich, H.] Max Planck Inst Expt Med, Div Clin Neurosci, D-37075 Gottingen, Germany.
[Huttenlocher, J.] Univ Tubingen, Inst Human Genet, Dept Med Genet, Tubingen, Germany.
[Sigurdsson, E.] Natl Univ Hosp Reykjavik, Dept Psychiat, Reykjavik, Iceland.
[Sigurdsson, E.; Thorsteinsdottir, U.; Stefansson, K.] Univ Iceland, Sch Med, Reykjavik, Iceland.
[Vassos, E.; Curran, S.; Bolton, P.; Farmer, A.; Collier, D. A.] Kings Coll London, Inst Psychiat, Social Genet & Dev Psychiat Res Ctr, London, England.
[Giegling, I.; Rujescu, D.] Univ Munich, Dept Psychiat, Div Mol & Clin Neurobiol, D-80539 Munich, Germany.
[Breuer, R.; Rietschel, M.] Heidelberg Univ, Cent Inst Mental Hlth, Dept Genet Epidemiol Psychiat, Mannheim, Germany.
[Fraser, G.; St Clair, D.] Univ Aberdeen, Dept Mental Hlth, Royal Cornhill Hosp, Aberdeen, Scotland.
[Walker, N.] Ravenscraig Hosp, Greenock, Scotland.
[Melle, I.; Djurovic, S.; Agartz, I.; Andreassen, O. A.] Univ Oslo, Inst Clin Med, KG Jebsen Ctr Psychosis Res, Div Mental Hlth & Addict,Oslo Univ Hosp, Oslo, Norway.
[Tuulio-Henriksson, A.; Suvisaari, J.; Lonnqvist, J.] Natl Inst Hlth & Welf, Dept Mental Hlth & Subst Abuse Serv, Helsinki, Finland.
[Tuulio-Henriksson, A.; Suvisaari, J.; Lonnqvist, J.; Paunio, T.] Univ Helsinki, Dept Psychiat, SF-00180 Helsinki, Finland.
[Tuulio-Henriksson, A.; Suvisaari, J.; Lonnqvist, J.; Paunio, T.] Univ Helsinki, Cent Hosp, Helsinki, Finland.
[Paunio, T.] Natl Inst Hlth & Welf THL, Publ Hlth Genom Unit, Helsinki, Finland.
[Olsen, L.; Hansen, T.; Ingason, A.; Werge, T.] Univ Copenhagen, Mental Hlth Ctr Sct Hans, Inst Biol Psychiat, Roskilde, Denmark.
[Pirinen, M.] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England.
[Strengman, E.; Poot, M.] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands.
[Hougaard, D. M.; Hollegaard, M. V.] Statens Serum Inst, Dept Clin Biochem Immunol & Genet, Sect Neonatal Screening & Hormones, DK-2300 Copenhagen, Denmark.
[Orntoft, T.] Aarhus Univ Hosp, Dept Mol Med, DK-8000 Aarhus, Denmark.
[Didriksen, M.] H Lundbeck & Co AS, Synapt Transmiss, Copenhagen, Denmark.
[Nordentoft, M.] Copenhagen Univ Hosp, Psychiat Ctr Copenhagen, Copenhagen, Denmark.
[Abramova, L.; Kaleda, V.; Golimbet, V.] Russian Acad Med Sci, Mental Hlth Res Ctr, Moscow 109801, Russia.
[Arrojo, M.] CHUS, Serv Psychiat, Santiago De Compostela, Spain.
[Sanjuan, J.] Univ Valencia, Network Ctr Biomed Res Mental Hlth CIBERSAM, Unit Psychiat, Fac Med, Valencia, Spain.
[Arango, C.] Univ Complutense, Hosp Gen Univ Gregorio Maranon, IiSGM, CIBERSAM, E-28040 Madrid, Spain.
[Etain, B.; Bellivier, F.; Meary, A.; Schuerhoff, F.; Szoke, A.; Leboyer, M.] Hop H Mondor A Chenevier, AP HP, Creteil, France.
[Bellivier, F.; Schuerhoff, F.; Leboyer, M.] Univ Paris Est, Fac Med, Creteil, France.
[Ribolsi, M.; Magni, V.; Siracusano, A.; Rubino, I. A.] Univ Roma Tor Vergata, Dept Neurosci, Sect Psychiat, Rome, Italy.
[Rossner, M.] Max Planck Inst Expt Med, Dept Neurogenet, D-37075 Gottingen, Germany.
[Christiansen, C.] Nord Biosci, Herlev, Denmark.
[Kiemeney, L. A.] Radboud Univ Nijmegen, Med Ctr, Dept Epidemiol & Biostat, NL-6525 ED Nijmegen, Netherlands.
[Kiemeney, L. A.] Radboud Univ Nijmegen, Med Ctr, Dept Urol, NL-6525 ED Nijmegen, Netherlands.
[Franke, B.] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.
[Franke, B.] Radboud Univ Nijmegen, Med Ctr, Dept Psychiat, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands.
[van den Berg, L. H.; Veldink, J.] Univ Med Ctr, Rudolf Magnus Inst Neurosci, Dept Neurol, Utrecht, Netherlands.
[Curran, S.; Bolton, P.] Kings Coll London, Inst Psychiat, Dept Child & Adolescent Psychiat, London, England.
[Staal, W.] Radboud Univ Nijmegen, Dept Cognit Neurosci, NL-6525 ED Nijmegen, Netherlands.
[Freitag, C. M.] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60054 Frankfurt, Germany.
[Meyer, J.] Univ Trier, Dept Neurobehav Genet, Trier, Germany.
[Magnusson, P.] Natl Univ Hosp Reykjavik, Dept Child & Adolescent Psychiat, Reykjavik, Iceland.
[Saemundsen, E.] State Diagnost & Counseling Ctr, Kopavogur, Iceland.
[Martsenkovsky, I.; Bikshaieva, I.; Martsenkovska, I.; Vashchenko, O.] Ukrainian Res Inst Social Forens Psychiat & Drug, Dept Child Adolescent Psychiat & Med Social Rehab, Kiev, Ukraine.
[Raleva, M.; Paketchieva, K.; Stefanovski, B.; Durmishi, N.] Univ Skopje, Dept Child & Adolescent Psychiat, Skopje, Macedonia.
[Milovancevic, M. Pejovic; Tosevski, D. Lecic] Inst Mental Hlth, Belgrade, Serbia.
[Milovancevic, M. Pejovic; Tosevski, D. Lecic] Univ Belgrade, Fac Med, Belgrade, Serbia.
[Silagadze, T.; Naneishvili, N.; Mikeladze, N.] Tbilisi State Med Univ TSMU, Dept Psychiat & Drug Addict, Tbilisi, Rep of Georgia.
[Surguladze, S.] Ilia State Univ, Social & Affect Neurosci Lab, Tbilisi, Rep of Georgia.
[Vincent, J. B.] Ctr Addict & Mental Hlth CAMH, Mol Neuropsychiat & Dev Lab, Toronto, ON, Canada.
[Mitchell, P. B.; Wright, A.] Prince Wales Hosp, Black Dog Inst, Randwick, NSW 2031, Australia.
[Mitchell, P. B.; Wright, A.] Univ New S Wales, Sch Psychiat, Sydney, NSW, Australia.
[Schofield, P. R.; Fullerton, J. M.] Neurosci Res Australia, Sydney, NSW, Australia.
[Schofield, P. R.; Fullerton, J. M.] Univ New S Wales, Sch Med Sci, Sydney, NSW, Australia.
[Montgomery, G. W.; Martin, N. G.] Queensland Inst Med Res, Brisbane, Qld 4006, Australia.
[van Winkel, R.; De Hert, M.] Catholic Univ Louvain, Univ Psychiat Ctr, Kortenberg, Belgium.
[van Winkel, R.; Kenis, G.] Maastricht Univ, European Grad Sch Neurosci EURON,Med Ctr, Sch Mental Hlth & Neurosci,Dept Psychiat & Psycho, South Limburg Mental Hlth Res & Teaching Network, Maastricht, Netherlands.
[Rethelyi, J. M.; Bitter, I.] Semmelweis Univ, Dept Psychiat & Psychotherapy, H-1085 Budapest, Hungary.
[Terenius, L.; Jonsson, E. G.] Karolinska Hosp & Inst, HUBIN Project, Dept Clin Neurosci, Stockholm, Sweden.
[Bakker, S.; Ophoff, R. A.] Univ Med Ctr, Rudolf Magnus Inst Neurosci, Dept Psychiat, Utrecht, Netherlands.
[van Os, J.] Maastricht Univ, Dept Psychiat, Med Ctr, Maastricht, Netherlands.
[Jablensky, A.] Univ Western Australia, Graylands Hosp, CCRN, Perth, WA 6009, Australia.
[Bramon, E.] UCL, Mental Hlth Sci Unit, London, England.
[Bramon, E.] UCL, Inst Cognit Neurosci, London, England.
[Murray, R.] South London & Maudsley NHS Fdn Trust, NIHR Biomed Res Ctr Mental Hlth, Dept Psychosis Studies, London, England.
[Corvin, A.; Gill, M.; Morris, D.] Trinity Coll Dublin, Sch Med, Neuropsychiat Genet Res Grp, Dublin, Ireland.
[O'Neill, F. A.] Queens Univ Belfast, Dept Psychiat, Belfast, Antrim, North Ireland.
[Kendler, K.; Riley, B.] Virginia Commonwealth Univ, Dept Human Genet, Richmond, VA USA.
[Kendler, K.; Riley, B.] Virginia Commonwealth Univ, Virginia Inst Psychiat & Behav Genet, Richmond, VA USA.
[Kendler, K.; Riley, B.] Virginia Commonwealth Univ, Dept Psychiat, Richmond, VA USA.
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[Borglum, A. D.; Mors, O.] Aarhus Univ Hosp, Ctr Psychiat Res, Risskov, Denmark.
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[Noethen, M. M.] German Ctr Neurodegenerat Disorders DZNE, Bonn, Germany.
[Noethen, M. M.; Cichon, S.] Univ Bonn, Inst Human Genet, Bonn, Germany.
[Cichon, S.] Inst Neurosci & Med INM 1, Julich, Germany.
[Ruggeri, M.; Tosato, S.] Univ Verona, Sect Psychiat, I-37100 Verona, Italy.
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[Palotie, A.] Univ Helsinki, Dept Med Genet, Helsinki, Finland.
[Palotie, A.] Univ Cent Hosp, Helsinki, Finland.
[Rujescu, D.] Univ Halle Wittenberg, Dept Psychiat, D-06108 Halle, Germany.
[Collier, D. A.] Eli Lilly & Co Ltd, Erl Wood Manor, Windlesham, Surrey, England.
RP Stefansson, K (reprint author), deCODE Genet, Sturlugata 8, IS-101 Reykjavik, Iceland.
EM kstefans@decode.is
RI Cichon, Sven/H-8803-2013; Cichon, Sven/B-9618-2014; Kiemeney,
Lambertus/D-3357-2009; Sigurdsson, Engilbert/D-2486-2014; Powell,
John/G-4412-2011; Poot, Martin/F-9427-2010; Franke, Barbara/D-4836-2009;
Bolton, Patrick/E-8501-2010; Deloukas, Panos/B-2922-2013; Costas,
Javier/B-5016-2008; Jablensky, Assen/H-5116-2014; Hansen,
Thomas/O-5965-2014; Jankowski, Janusz/H-2706-2012
OI Cichon, Sven/0000-0002-9475-086X; Cichon, Sven/0000-0002-9475-086X;
Kiemeney, Lambertus/0000-0002-2368-1326; Sigurdsson,
Engilbert/0000-0001-9404-7982; Powell, John/0000-0001-6124-439X; Franke,
Barbara/0000-0003-4375-6572; Bolton, Patrick/0000-0002-5270-6262;
Deloukas, Panos/0000-0001-9251-070X; Costas, Javier/0000-0003-0306-3990;
Hansen, Thomas/0000-0001-6703-7762; Jankowski,
Janusz/0000-0003-2130-9181
FU National Institute of Mental Health [N01 MH900001, MH074027,
1U24MH081810, R01 MH078075]; Eli Lilly and Company; Pritzker
Neuropsychiatric Disorders Research Fund L.L.C.; Massachusetts General
Hospital in Boston, MA (NIMH) [2N01MH080001-001]; Wellcome Trust
[076113, 085475, 075491/Z/04, 085475/B/08/Z, 085475/Z/08/Z]; Medical
Research Council [G0601030]; Anthony P Monaco, PI, University of Oxford;
National Genome Research Network of the German Federal Ministry of
Education and Research (BMBF) [01GS08144, 01GS08147]; Centre of
Excellence for Complex Disease Genetics of the Academy of Finland
[213506, 129680]; Biocentrum Helsinki Foundation; Research Program for
Molecular Medicine, Faculty of Medicine, University of Helsinki; Stanley
Medical Research Institute; Danish Council for Strategic Research
[2101-07-0059]; H Lundbeck A/S; the Research Council of Norway
[163070/V50]; Danish Medical Research Council; South-East Norway Health
Authority [2004-123]; Medical Research Council; Ministerio de Sanidad y
Consumo, Spain [PI081522]; Xunta de Galicia [08CSA005208PR]; Swedish
Research Council; Wellcome Trust Case Control Consortium 2; Max Planck
Society; Saarland University [T6 03 10 00-45]; Netherlands Foundation
for Brain Research (Hersenstichting) [2008(1).34]; [2006-037761];
[PIAP-GA-2008-218251]; [HEALTH-F2-2009-223423];
[HEALTH-F4-2009-242257]
FX We would like to thank the subjects, their families and the recruitment
centre staff. We would also like to acknowledge the help of Maria
Dolores Molto (Genetics Department, Valencia University, CIBERSAM),
Eduardo Paz and Ramon Ramos-Rios (Complexo Hospitalario de Santiago),
and the contribution of Fundacion Botin. This study makes use of seven
external, publicly available data sets. First, it makes use of data
generated by the Clinical Antipsychotic Trials of Intervention
Effectiveness (CATIE) project whose principal investigators were Jeffrey
A Lieberman, MD, T Scott Stroup, MD, MPH, and Joseph P McEvoy, MD. The
CATIE trial was funded by a grant from the National Institute of Mental
Health (N01 MH900001) along with MH074027 (PI PF Sullivan). Genotyping
was funded by Eli Lilly and Company. Second, the GAIN/BiGs data sets
used in this work were obtained from the database of Genotypes and
Phenotypes (dbGaP) found at http://www.ncbi.nlm.nih.gov/gap through
dbGaP accession number phs000017.v3.p1. Third, the study uses samples
genotyped using the Ilumina 550K platform by the Pritzker Consortium,
supported by the Pritzker Neuropsychiatric Disorders Research Fund
L.L.C. The Pritzker Consortium includes scientists at the University of
Michigan (H Akil and S J Watson, Site Directors, and Michael Boehnke,
lead on bipolar genotyping effort); Stanford University (Rick Myers and
Alan Schatzberg, Site Directors); the University of California at Davis
(Ted Jones, Site Director); the University of California at Irvine
(William Bunney, Site Director); and the Weill Medical College of
Cornell University (Jack Barchas, Site Director). Fourth, the work uses
data from the Systematic Treatment Enhancement Program for Bipolar
Disorder (STEP-BD) project, led by Gary Sachs, MD, and coordinated by
Massachusetts General Hospital in Boston, MA (NIMH grant number was
2N01MH080001-001). Fifth, this study makes use of data generated by the
Wellcome Trust Case-Control Consortium. A full list of the investigators
who contributed to the generation of the data is available from
www.wtccc.org.uk. Funding for the project was provided by the Wellcome
Trust under award 076113 and 085475. Sixth, we gratefully acknowledge
the resources provided by the Autism Genetic Resource Exchange (AGRE)
Consortium* and the participating AGRE families. The AGRE is a program
of Autism Speaks and is supported, in part, by grant 1U24MH081810 from
the National Institute of Mental Health to Clara M Lajonchere (PI).
Seventh, the Autism Genome Project (AGP) data sets used for the analysis
described in this manuscript were obtained from dbGaP at
http://www.ncbi.nlm.nih.gov/gap through dbGaP accession number,
phs000267.v1.p1. Submission of the data to dbGaP was provided by Dr
Bernie Devlin on behalf of the AGP. Collection and submission of the
data to dbGaP were supported by a grant from the Medical Research
Council (G0601030) and the Wellcome Trust (075491/Z/04), Anthony P
Monaco, PI, University of Oxford.This work was also supported by the
European Union (grant numbers LSHM-CT-2006-037761 (Project SGENE),
PIAP-GA-2008-218251 (Project PsychGene), HEALTH-F2-2009-223423 (Project
PsychCNVs), HEALTH-F4-2009-242257 (Project ADAMS) and IMI-JU-New-Meds);
the National Genome Research Network of the German Federal Ministry of
Education and Research (BMBF) (grant numbers 01GS08144 (MooDS-Net) and
01GS08147 (NGFNplus)); the National Institute of Mental Health (R01
MH078075, and N01 MH900001, MH074027 to the Clinical Antipsychotic
Trials of Intervention Effectiveness (CATIE) project); the Centre of
Excellence for Complex Disease Genetics of the Academy of Finland (grant
numbers 213506 and 129680); the Biocentrum Helsinki Foundation and
Research Program for Molecular Medicine, Faculty of Medicine, University
of Helsinki; the Stanley Medical Research Institute; the Danish Council
for Strategic Research (grant number 2101-07-0059); H Lundbeck A/S; the
Research Council of Norway (grant number 163070/V50); the Danish Medical
Research Council; the South-East Norway Health Authority (grant number
2004-123); the Medical Research Council; Ministerio de Sanidad y
Consumo, Spain (grant number PI081522 to JC); Xunta de Galicia (grant
number 08CSA005208PR to A Carracedo); the Swedish Research Council; the
Wellcome Trust (Wellcome Trust grants 085475/B/08/Z and 085475/Z/08/Z as
part of the Wellcome Trust Case Control Consortium 2); the Max Planck
Society; Saarland University (grant number T6 03 10 00-45 to CMF); the
Netherlands Foundation for Brain Research (Hersenstichting) (grant
number 2008(1).34 to M Poot); and Eli Lilly and Company (genotyping for
CATIE and part of the TOP sample). For further acknowledgements, see the
Supplementary Material.
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NR 49
TC 18
Z9 18
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 JAN
PY 2014
VL 19
IS 1
BP 108
EP 114
DI 10.1038/mp.2012.157
PG 7
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA 279MS
UT WOS:000328964700019
PM 23164818
ER
PT J
AU Jarick, I
Volckmar, AL
Putter, C
Pechlivanis, S
Nguyen, TT
Dauvermann, MR
Beck, S
Albayrak, O
Scherag, S
Gilsbach, S
Cichon, S
Hoffmann, P
Degenhardt, F
Nothen, MM
Schreiber, S
Wichmann, HE
Jockel, KH
Heinrich, J
Tiesler, CMT
Faraone, SV
Walitza, S
Sinzig, J
Freitag, C
Meyer, J
Herpertz-Dahlmann, B
Lehmkuhl, G
Renner, TJ
Warnke, A
Romanos, M
Lesch, KP
Reif, A
Schimmelmann, BG
Hebebrand, J
Scherag, A
Hinney, A
AF Jarick, I.
Volckmar, A-L
Puetter, C.
Pechlivanis, S.
Nguyen, T. T.
Dauvermann, M. R.
Beck, S.
Albayrak, Oe
Scherag, S.
Gilsbach, S.
Cichon, S.
Hoffmann, P.
Degenhardt, F.
Noethen, M. M.
Schreiber, S.
Wichmann, H-E
Joeckel, K-H
Heinrich, J.
Tiesler, C. M. T.
Faraone, S. V.
Walitza, S.
Sinzig, J.
Freitag, C.
Meyer, J.
Herpertz-Dahlmann, B.
Lehmkuhl, G.
Renner, T. J.
Warnke, A.
Romanos, M.
Lesch, K-P
Reif, A.
Schimmelmann, B. G.
Hebebrand, J.
Scherag, A.
Hinney, A.
TI Genome-wide analysis of rare copy number variations reveals PARK2 as a
candidate gene for attention-deficit/hyperactivity disorder
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE ADHD; children; CNVs; GWAS; PARK2
ID DEFICIT HYPERACTIVITY DISORDER; RECURRENT MICRODELETIONS;
MOLECULAR-GENETICS; ADHD; ASSOCIATION; VARIANTS; DISEASE; SCHIZOPHRENIA;
DUPLICATIONS; AUTISM
AB Attention-deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurodevelopmental disorder. Genetic loci have not yet been identified by genome-wide association studies. Rare copy number variations (CNVs), such as chromosomal deletions or duplications, have been implicated in ADHD and other neurodevelopmental disorders. To identify rare (frequency <= 1%) CNVs that increase the risk of ADHD, we performed a whole-genome CNV analysis based on 489 young ADHD patients and 1285 adult population-based controls and identified one significantly associated CNV region. In tests for a global burden of large (> 500kb) rare CNVs, we observed a nonsignificant (P = 0.271) 1.126-fold enriched rate of subjects carrying at least one such CNV in the group of ADHD cases. Locus-specific tests of association were used to assess if there were more rare CNVs in cases compared with controls. Detected CNVs, which were significantly enriched in the ADHD group, were validated by quantitative (q)PCR. Findings were replicated in an independent sample of 386 young patients with ADHD and 781 young population-based healthy controls. We identified rare CNVs within the parkinson protein 2 gene (PARK2) with a significantly higher prevalence in ADHD patients than in controls (P = 2.8 x 10(-4) after empirical correction for genome-wide testing). In total, the PARK2 locus (chr 6: 162 659 756-162 767 019) harboured three deletions and nine duplications in the ADHD patients and two deletions and two duplications in the controls. By qPCR analysis, we validated 11 of the 12 CNVs in ADHD patients (P = 1.2 x 10(-3) after empirical correction for genome-wide testing). In the replication sample, CNVs at the PARK2 locus were found in four additional ADHD patients and one additional control (P = 4.3 x 10(-2)). Our results suggest that copy number variants at the PARK2 locus contribute to the genetic susceptibility of ADHD. Mutations and CNVs in PARK2 are known to be associated with Parkinson disease.
C1 [Jarick, I.; Nguyen, T. T.] Univ Marburg, Inst Med Biometry & Epidemiol, Marburg, Germany.
[Volckmar, A-L; Dauvermann, M. R.; Beck, S.; Albayrak, Oe; Scherag, S.; Schimmelmann, B. G.; Hebebrand, J.; Hinney, A.] Univ Dusiburg Essen, Dept Child & Adolescent Psychiat, D-45147 Essen, Germany.
[Puetter, C.; Pechlivanis, S.; Joeckel, K-H; Scherag, A.] Univ Dusiburg Essen, Inst Med Informat Biometry & Epidemiol IMIBE, D-45147 Essen, Germany.
[Dauvermann, M. R.; Schimmelmann, B. G.] Univ Bern, Univ Hosp Child & Adolescent Psychiat, Bern, Switzerland.
[Gilsbach, S.; Herpertz-Dahlmann, B.] RWTH Aachen Univ Clin, Dept Child & Adolescent Psychiat Psychosomat & Ps, Aachen, Germany.
[Cichon, S.] Res Ctr Juelich, Inst Neurosci & Med INM 1 Struct & Funct Org Brai, Julich, Germany.
[Cichon, S.; Hoffmann, P.; Degenhardt, F.; Noethen, M. M.] Univ Bonn, Inst Human Genet, Bonn, Germany.
[Cichon, S.; Hoffmann, P.; Degenhardt, F.; Noethen, M. M.] Univ Bonn, Life & Brain Ctr, Deptartment Genom, Bonn, Germany.
[Noethen, M. M.] German Ctr Neurodegenerat Dis DZNE, Bonn, Germany.
[Schreiber, S.] Univ Hosp Schleswig Holstein, Inst Clin Mol Biol, Kiel, Germany.
[Wichmann, H-E; Heinrich, J.; Tiesler, C. M. T.] Helmholtz Ctr Munich, German Res Ctr Environm Hlth, Inst Epidemiol, Neuherberg, Germany.
[Tiesler, C. M. T.] Univ Munich, Dr von Hauner Childrens Hosp, Div Metab Dis & Nutr Med, Munich, Germany.
[Faraone, S. V.] SUNY Upstate Med Univ, Dept Psychiat, Syracuse, NY 13210 USA.
[Faraone, S. V.] SUNY Upstate Med Univ, Dept Neurosci & Physiol, Syracuse, NY 13210 USA.
[Walitza, S.] Univ Zurich, Dept Child & Adolescent Psychiat, Zurich, Switzerland.
[Sinzig, J.; Lehmkuhl, G.] Univ Cologne, Dept Child & Adolescent Psychiat, D-50931 Cologne, Germany.
[Sinzig, J.] LVR Clin Bonn, Dept Child & Adolescent Psychiat & Psychotherapy, Bonn, Germany.
[Freitag, C.] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60054 Frankfurt, Germany.
[Meyer, J.] Univ Trier, Inst Psychobiol, Dept Neurobehav Genet, Trier, Germany.
[Renner, T. J.; Warnke, A.; Romanos, M.] Univ Wurzburg, Dept Child & Adolescent Psychiat, D-97070 Wurzburg, Germany.
[Romanos, M.] Univ Hosp Munich, Dept Child & Adolescent Psychiat Psychosomat & Ps, Munich, Germany.
[Lesch, K-P] Univ Wurzburg, Div Mol Psychiat, ADHD Clin Res Network,Lab Translat Neurosci, Dept Psychiat Psychosomat & Psychotherapy, D-97070 Wurzburg, Germany.
[Lesch, K-P] Maastricht Univ, Sch Mental Hlth & Neurosci, Dept Neurosci, Maastricht, Netherlands.
[Reif, A.] Univ Wurzburg, Dept Psychiat Psychosomat & Psychotherapy, D-97070 Wurzburg, Germany.
RP Hinney, A (reprint author), Univ Dusiburg Essen, Dept Child & Adolescent Psychiat, Virchowstr 174, D-45147 Essen, Germany.
EM anke.hinney@uni-due.de
RI Cichon, Sven/H-8803-2013; Cichon, Sven/B-9618-2014; Renner,
Tobias/I-2120-2013; Hinney, Anke/D-6953-2011; Lesch,
Klaus-Peter/J-4906-2013
OI Cichon, Sven/0000-0002-9475-086X; Cichon, Sven/0000-0002-9475-086X;
Hinney, Anke/0000-0001-5659-0706; Lesch, Klaus-Peter/0000-0001-8348-153X
FU Heinz Nixdorf Foundation, Germany; German Research Association (DFG)
[He1446/9-1, KFO 125, SFB 581, SFB TRR 58/A5, GRK 1253, ME 1923/5-1, ME
1923/5-3, GRK 1389, SCHA 542/10-3]; Bundesministerium fur Bildung und
Forschung (BMBF) [01GV0605]; Medical Faculty, RWTH Aachen, Germany
[START-Program EK 119/05]; European Community [245009]
FX We thank the children and their families for their participation and
support to this study. We are also grateful to all probands from the
community-based cohorts of PopGen, KORA, those from the Heinz Nixdorf
RECALL (HNR) study, and the GINIplus and LISAplus cohorts. We thank the
Heinz Nixdorf Foundation, Germany, for the generous support of the HNR
study. We thank the German Research Association (DFG) who funded the
GWAS analyses and confirmatory studies (He1446/9-1 to J Hebebrand, KP
Lesch, A Hinney and T Renner, KFO 125, SFB 581, SFB TRR 58/A5, GRK 1253
to KP Lesch; ME 1923/5-1, ME 1923/5-3 to J Meyer and CM Freitag, GRK
1389 to J Meyer, SCHA 542/10-3 to H Schafer) and the Bundesministerium
fur Bildung und Forschung (BMBF 01GV0605 to KP Lesch). We thank the
START-Program EK 119/05 of the Medical Faculty, RWTH Aachen, Germany.
The European Community's Seventh Framework Programme (FP7/2007-2013)
under grant agreement no. 245009 supported this study.
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NR 49
TC 9
Z9 9
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 JAN
PY 2014
VL 19
IS 1
BP 115
EP 121
DI 10.1038/mp.2012.161
PG 7
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA 279MS
UT WOS:000328964700020
PM 23164820
ER
PT J
AU Dean, DC
Dirks, H
O'Muircheartaigh, J
Walker, L
Jerskey, BA
Lehman, K
Han, M
Waskiewicz, N
Deoni, SCL
AF Dean, Douglas C., III
Dirks, Holly
O'Muircheartaigh, Jonathan
Walker, Lindsay
Jerskey, Beth A.
Lehman, Katie
Han, Michelle
Waskiewicz, Nicole
Deoni, Sean C. L.
TI Pediatric neuroimaging using magnetic resonance imaging during
non-sedated sleep
SO PEDIATRIC RADIOLOGY
LA English
DT Article
DE Magnetic resonance imaging; Pediatric imaging; Brain development;
Neurodevelopment; Sleep; Children
ID BRAIN-DEVELOPMENT; EARLY-CHILDHOOD; LONGITUDINAL DEVELOPMENT; MOTION
CORRECTION; STRUCTURAL MRI; CHILDREN; MATTER; INFANTS; AUTISM; BIRTH
AB Etiological studies of many neurological and psychiatric disorders are increasingly turning toward longitudinal investigations of infant brain development in order to discern predisposing structural and/or functional differences prior to the onset of overt clinical symptoms. While MRI provides a noninvasive window into the developing brain, MRI of infants and toddlers is challenging due to the modality's extreme motion sensitivity and children's difficulty in remaining still during image acquisition.
Here, we outline a broad research protocol for successful MRI of children under 4 years of age during natural, non-sedated sleep.
All children were imaged during natural, non-sedated sleep. Active and passive measures to reduce acoustic noise were implemented to reduce the likelihood of the children waking up during acquisition. Foam cushions and vacuum immobilizers were used to limit intra-scan motion artifacts.
More than 380 MRI datasets have been successfully acquired from 220 children younger than 4 years of age within the past 39 months. Implemented measures permitted children to remain asleep for the duration of the scan and allowed the data to be acquired with an overall 97% success rate.
The proposed method greatly advances current pediatric imaging techniques and may be readily implemented in other research and clinical settings to facilitate and further improve pediatric neuroimaging.
C1 [Dean, Douglas C., III; Dirks, Holly; O'Muircheartaigh, Jonathan; Walker, Lindsay; Lehman, Katie; Han, Michelle; Waskiewicz, Nicole; Deoni, Sean C. L.] Brown Univ, Sch Engn, Adv Baby Imaging Lab, Providence, RI 02912 USA.
[O'Muircheartaigh, Jonathan] Kings Coll London, Dept NeuroImaging Sci, Inst Psychiat, London WC2R 2LS, England.
[Jerskey, Beth A.] Brown Univ, Dept Human Behav & Psychiat, Warren Alpert Med Sch, Providence, RI 02912 USA.
RP Dean, DC (reprint author), Brown Univ, Sch Engn, Adv Baby Imaging Lab, Providence, RI 02912 USA.
EM douglas_dean_iii@brown.edu
FU National Institutes of Mental Health [R01 MH087510]; Wellcome Trust
[096195]
FX The authors wish to thank all the families that donated their time to
take part in this research. This work was supported by the National
Institutes of Mental Health (R01 MH087510). JOM is supported by a Sir
Henry Wellcome Postdoctoral Fellowship awarded by the Wellcome Trust (No
096195).
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NR 30
TC 3
Z9 3
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0301-0449
EI 1432-1998
J9 PEDIATR RADIOL
JI Pediatr. Radiol.
PD JAN
PY 2014
VL 44
IS 1
BP 64
EP 72
DI 10.1007/s00247-013-2752-8
PG 9
WC Pediatrics; Radiology, Nuclear Medicine & Medical Imaging
SC Pediatrics; Radiology, Nuclear Medicine & Medical Imaging
GA 284YC
UT WOS:000329357300010
PM 23917588
ER
PT J
AU Robins, DL
Casagrande, K
Barton, M
Chen, CMA
Dumont-Mathieu, T
Fein, D
AF Robins, Diana L.
Casagrande, Karis
Barton, Marianne
Chen, Chi-Ming A.
Dumont-Mathieu, Thyde
Fein, Deborah
TI Validation of the Modified Checklist for Autism in Toddlers, Revised
With Follow-up (M-CHAT-R/F)
SO PEDIATRICS
LA English
DT Article
DE autism; screening; toddlers
ID SPECTRUM DISORDERS; CHILDREN
AB OBJECTIVE: This study validates the Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F), a screening tool for low-risk toddlers, and demonstrates improved utility compared with the original M-CHAT.
METHODS: Toddlers (N = 16 071) were screened during 18- and 24-month well-child care visits in metropolitan Atlanta and Connecticut. Parents of toddlers at risk on M-CHAT-R completed follow-up; those who continued to show risk were evaluated.
RESULTS: The reliability and validity of the M-CHAT-R/F were demonstrated, and optimal scoring was determined by using receiver operating characteristic curves. Children whose total score was >= 3 initially and >= 2 after follow-up had a 47.5% risk of being diagnosed with autism spectrum disorder (ASD; confidence interval [95% CI]: 0.41-0.54) and a 94.6% risk of any developmental delay or concern (95% CI: 0.92-0.98). Total score was more effective than alternative scores. An algorithm based on 3 risk levels is recommended to maximize clinical utility and to reduce age of diagnosis and onset of early intervention. The M-CHAT-R detects ASD at a higher rate compared with the M-CHAT while also reducing the number of children needing the follow-up. Children in the current study were diagnosed 2 years younger than the national median age of diagnosis.
CONCLUSIONS: The M-CHAT-R/F detects many cases of ASD in toddlers; physicians using the 2-stage screener can be confident that most screen-positive cases warrant evaluation and referral for early intervention. Widespread implementation of universal screening can lower the age of ASD diagnosis by 2 years compared with recent surveillance findings, increasing time available for early intervention.
C1 [Robins, Diana L.; Casagrande, Karis] Georgia State Univ, Dept Psychol, Atlanta, GA 30302 USA.
[Robins, Diana L.] Georgia State Univ, Inst Neurosci, Atlanta, GA 30302 USA.
[Barton, Marianne; Chen, Chi-Ming A.; Dumont-Mathieu, Thyde; Fein, Deborah] Univ Connecticut, Dept Psychol, Storrs, CT USA.
[Dumont-Mathieu, Thyde; Fein, Deborah] Univ Connecticut, Dept Pediat, Storrs, CT USA.
RP Robins, DL (reprint author), Georgia State Univ, Dept Psychol, POB 5010, Atlanta, GA 30302 USA.
EM drobins@gsu.edu
FU Eunice Kennedy Shriver National Institute of Child Health and Human
Development [and Human Development grant R01HD039961]; National
Institutes of Health (NIH)
FX This study was supported by Eunice Kennedy Shriver National Institute of
Child Health and Human Development grant R01HD039961. Funded by the
National Institutes of Health (NIH).
CR American Psychiatric Association, 2000, 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
Autism Spectrum Disorder. American Psychiatric Association, 2013, DIAGN STAT MAN MENT, P50
Barton M., 2012, TODDLER ASD SYMPTOM
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Robins D., 2009, MODIFIED CHECKLIST A
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Robins DL, 2001, J AUTISM DEV DISORD, V31, P131, DOI 10.1023/A:1010738829569
Schopler E., 2010, CHILDHOOD AUTISM RAT, VSecond
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Wiggins LD, 2012, AUTISM
NR 28
TC 14
Z9 15
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 JAN
PY 2014
VL 133
IS 1
BP 37
EP 45
DI 10.1542/peds.2013-1813
PG 9
WC Pediatrics
SC Pediatrics
GA 282JX
UT WOS:000329168400042
PM 24366990
ER
PT J
AU Doshi-Velez, F
Ge, YR
Kohane, I
AF Doshi-Velez, Finale
Ge, Yaorong
Kohane, Isaac
TI Comorbidity Clusters in Autism Spectrum Disorders: An Electronic Health
Record Time-Series Analysis
SO PEDIATRICS
LA English
DT Article
DE autism; seizure; psychiatric disorders; comorbidity; clustering
ID DUCHENNE MUSCULAR-DYSTROPHY; CORONARY-HEART-DISEASE; NEUROPSYCHIATRIC
DISORDERS; MENTAL-RETARDATION; GENE-EXPRESSION; CHILDREN; EPILEPSY;
ANXIETY; ASSOCIATION; ABNORMALITIES
AB OBJECTIVE: The distinct trajectories of patients with autism spectrum disorders (ASDs) have not been extensively studied, particularly regarding clinical manifestations beyond the neurobehavioral criteria from the Diagnostic and Statistical Manual of Mental Disorders. The objective of this study was to investigate the patterns of co-occurrence of medical comorbidities in ASDs.
METHODS: International Classification of Diseases, Ninth Revision codes from patients aged at least 15 years and a diagnosis of ASD were obtained from electronic medical records. These codes were aggregated by using phenotype-wide association studies categories and processed into 1350-dimensional vectors describing the counts of the most common categories in 6-month blocks between the ages of 0 to 15. Hierarchical clustering was used to identify subgroups with distinct courses.
RESULTS: Four subgroups were identified. The first was characterized by seizures (n = 120, subgroup prevalence 77.5%). The second (n = 197) was characterized by multisystem disorders including gastrointestinal disorders (prevalence 24.3%) and auditory disorders and infections (prevalence 87.8%), and the third was characterized by psychiatric disorders (n = 212, prevalence 33.0%). The last group (n = 4316) could not be further resolved. The prevalence of psychiatric disorders was un-correlated with seizure activity (P =.17), but a significant correlation existed between gastrointestinal disorders and seizures (P < .001). The correlation results were replicated by using a second sample of 496 individuals from a different geographic region.
CONCLUSIONS: Three distinct patterns of medical trajectories were identified by unsupervised clustering of electronic health record diagnoses. These may point to distinct etiologies with different genetic and environmental contributions. Additional clinical and molecular characterizations will be required to further delineate these subgroups.
C1 [Doshi-Velez, Finale; Kohane, Isaac] Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA 02115 USA.
[Ge, Yaorong] Wake Forest Univ, Ctr Biomed Informat, Winston Salem, NC 27109 USA.
RP Doshi-Velez, F (reprint author), Harvard Univ, Sch Med, Ctr Biomed Informat, 10 Shattuck St, Boston, MA 02115 USA.
EM finale_doshi-velez@hms.harvard.edu
FU Informatics for Integrating Biology; Bedside NIH [2U54 LM008748];
National Science Foundation under a CI TraCS grant; Conte Center for
Computational Neuropsychiatric Genomics [NIH P50MH94267]; National
Institutes of Health (NIH)
FX All phases of this study were supported by the Informatics for
Integrating Biology and the Bedside NIH #2U54 LM008748. Dr Doshi-Velez
is supported by the National Science Foundation under a CI TraCS grant
awarded in 2012. Also funded by the Conte Center for Computational
Neuropsychiatric Genomics (NIH P50MH94267). Funded by the National
Institutes of Health (NIH).
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NR 69
TC 8
Z9 8
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 JAN
PY 2014
VL 133
IS 1
BP E54
EP E63
DI 10.1542/peds.2013-0819
PG 10
WC Pediatrics
SC Pediatrics
GA 282JX
UT WOS:000329168400008
PM 24323995
ER
PT J
AU Egawa, J
Watanabe, Y
Endo, T
Kitamura, H
Someya, T
AF Egawa, Jun
Watanabe, Yuichiro
Endo, Taro
Kitamura, Hideaki
Someya, Toshiyuki
TI Possible association between the oxytocin receptor gene and
N-acetylaspartate of the right medial temporal lobe in autism spectrum
disorders
SO PSYCHIATRY AND CLINICAL NEUROSCIENCES
LA English
DT Letter
ID GLYCATION END-PRODUCTS; SCHIZOPHRENIA
C1 [Egawa, Jun; Watanabe, Yuichiro; Endo, Taro; Kitamura, Hideaki; Someya, Toshiyuki] Niigata Univ, Grad Sch Med & Dent Sci, Dept Psychiat, Niigata, Japan.
RP Egawa, J (reprint author), Niigata Univ, Grad Sch Med & Dent Sci, Dept Psychiat, Niigata, Japan.
EM jeg5414@med.niigata-u.ac.jp
CR Arai M, 2010, ARCH GEN PSYCHIAT, V67, P589, DOI 10.1001/archgenpsychiatry.2010.62
Kouidrat Y, 2013, J PSYCHIATR RES, V47, P1044, DOI 10.1016/j.jpsychires.2013.03.016
Miyata T, 1996, P NATL ACAD SCI USA, V93, P2353, DOI 10.1073/pnas.93.6.2353
NR 3
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 JAN
PY 2014
VL 68
IS 1
BP 83
EP 83
DI 10.1111/pcn.12081
PG 1
WC Clinical Neurology; Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 284IS
UT WOS:000329310300008
PM 24393355
ER
PT J
AU Miyashita, M
Arai, M
Yuzawa, H
Niizato, K
Oshima, K
Kushima, I
Hashimoto, R
Fukumoto, M
Koike, S
Toyota, T
Ujike, H
Arinami, T
Kasai, K
Takeda, M
Ozaki, N
Okazaki, Y
Yoshikawa, T
Amano, N
Miyata, T
Itokawa, M
AF Miyashita, Mitsuhiro
Arai, Makoto
Yuzawa, Hiroko
Niizato, Kazuhiro
Oshima, Kenichi
Kushima, Itaru
Hashimoto, Ryota
Fukumoto, Motoyuki
Koike, Shinsuke
Toyota, Tomoko
Ujike, Hiroshi
Arinami, Tadao
Kasai, Kiyoto
Takeda, Masatoshi
Ozaki, Norio
Okazaki, Yuji
Yoshikawa, Takeo
Amano, Naoji
Miyata, Toshio
Itokawa, Masanari
TI Replication of enhanced carbonyl stress in a subpopulation of
schizophrenia
SO PSYCHIATRY AND CLINICAL NEUROSCIENCES
LA English
DT Letter
ID METAANALYSIS; AUTISM
C1 [Miyashita, Mitsuhiro; Arai, Makoto; Itokawa, Masanari] Tokyo Metropolitan Inst Med Sci, Project Schizophrenia & Affect Disorder, Tokyo, Japan.
[Miyashita, Mitsuhiro; Niizato, Kazuhiro; Oshima, Kenichi; Okazaki, Yuji; Itokawa, Masanari] Tokyo Metropolitan Matsuzawa Hosp, Dept Psychiat, Tokyo, Japan.
[Koike, Shinsuke; Kasai, Kiyoto] Univ Tokyo, Grad Sch Med, Dept Neuropsychiat, Tokyo, Japan.
[Yuzawa, Hiroko] Tokai Univ, Inst Med Sci, Isehara, Kanagawa, Japan.
[Kushima, Itaru; Ozaki, Norio] Nagoya Univ, Grad Sch Med, Dept Psychiat, Nagoya, Aichi 4648601, Japan.
[Hashimoto, Ryota; Fukumoto, Motoyuki; Takeda, Masatoshi] Osaka Univ, Grad Sch Med, Dept Psychiat, Osaka, Japan.
[Toyota, Tomoko; Yoshikawa, Takeo; Itokawa, Masanari] RIKEN, Brain Sci Inst, Lab Mol Psychiat, Wako, Saitama, Japan.
[Ujike, Hiroshi] Ujike Nishiguchi Clin, Okayama, Japan.
[Arinami, Tadao] Univ Tsukuba, Grad Sch Comprehens Human Sci, Dept Med Genet, Tsukuba, Ibaraki, Japan.
[Miyashita, Mitsuhiro; Amano, Naoji] Shinshu Univ, Sch Med, Dept Psychiat, Matsumoto, Nagano 390, Japan.
[Miyata, Toshio] Tohoku Univ, Grad Sch Med, United Ctr Adv Res & Translat Med, Sendai, Miyagi 980, Japan.
RP Miyashita, M (reprint author), Tokyo Metropolitan Inst Med Sci, Project Schizophrenia & Affect Disorder, Tokyo, Japan.
EM miyashita-mt@igakuken.or.jp
RI Hashimoto, Ryota/P-8572-2014; Ozaki, Norio/M-8908-2014
OI Hashimoto, Ryota/0000-0002-5941-4238; Ozaki, Norio/0000-0002-7360-4898
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Yamasue H, 2013, BRAIN DEV-JPN, V35, P111, DOI 10.1016/j.braindev.2012.08.010
NR 4
TC 3
Z9 3
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 JAN
PY 2014
VL 68
IS 1
BP 83
EP 84
DI 10.1111/pcn.12087
PG 2
WC Clinical Neurology; Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 284IS
UT WOS:000329310300009
PM 24393354
ER
PT J
AU Wheeler, A
Raspa, M
Bann, C
Bishop, E
Hessl, D
Sacco, P
Bailey, DB
AF Wheeler, Anne
Raspa, Melissa
Bann, Carla
Bishop, Ellen
Hessl, David
Sacco, Pat
Bailey, Donald B., Jr.
TI Anxiety, Attention Problems, Hyperactivity, and the Aberrant Behavior
Checklist in Fragile X Syndrome
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE fragile X syndrome; behavior symptoms; anxiety; attention deficit
hyperactivity disorder
ID AUTISM SPECTRUM DISORDER; QUALITY-OF-LIFE; INTELLECTUAL DISABILITY;
MENTAL-RETARDATION; ADHD SYMPTOMS; PARENT SURVEY; DOUBLE-BLIND;
CHILDREN; ADULTS; BOYS
AB Behavior problems are a common challenge for individuals with fragile X syndrome (FXS) and constitute the primary clinical outcome domain in trials testing new FXS medications. However, little is known about the relationship between caregiver-reported behavior problems and co-occurring conditions such as anxiety and attention problems. In this study, 350 caregivers, each with at least one son or daughter with full-mutation FXS, rated one of their children with FXS using the Aberrant Behavior ChecklistCommunity Version (ABC-C); the Anxiety subscale of the Anxiety, Depression, and Mood Scale; and the Attention/Hyperactivity Items from the Symptom Inventories. In addition to examining family consequences of these behaviors, this study also sought to replicate psychometric findings for the ABC-C in FXS, to provide greater confidence for its use in clinical trials with this population. Psychometric properties and baseline ratings of problem behavior were consistent with other recent studies, further establishing the profile of problem behavior in FXS. Cross-sectional analyses suggest that selected dimensions of problem behavior, anxiety, and hyperactivity are age related; thus, age should serve as an important control in any studies of problem behavior in FXS. Measures of anxiety, attention, and hyperactivity were highly associated with behavior problems, suggesting that these factors at least coincide with problem behavior. However, these problems generally did not add substantially to variance in caregiver burden predicted by elevated behavior problems. The results provide further evidence of the incidence of problem behaviors and co-occurring conditions in FXS and the impact of these behaviors on the family. (c) 2013 Wiley Periodicals, Inc.
C1 [Wheeler, Anne] Univ N Carolina, Carolina Inst Dev Disabil, Chapel Hill, NC USA.
[Raspa, Melissa; Bann, Carla; Bishop, Ellen; Bailey, Donald B., Jr.] RTI Int, Social Stat & Environm Sci, Res Triangle Pk, NC 27709 USA.
[Hessl, David] Univ Calif Davis, Sch Med, Med Ctr, MIND Inst, Davis, CA 95616 USA.
[Hessl, David] Univ Calif Davis, Sch Med, Dept Psychiat & Behav Sci, Davis, CA 95616 USA.
[Sacco, Pat] Novartis Pharmaceut, E Hanover, NJ USA.
RP Bailey, DB (reprint author), RTI Int, Social Stat & Environm Sci, 3040 Cornwallis Rd, Res Triangle Pk, NC 27709 USA.
EM dbailey@rti.org
FU Novartis Pharmaceutical Corporation
FX Grant sponsor: Novartis Pharmaceutical Corporation.
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NR 60
TC 4
Z9 4
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 JAN
PY 2014
VL 164
IS 1
BP 141
EP 155
DI 10.1002/ajmg.a.36232
PG 15
WC Genetics & Heredity
SC Genetics & Heredity
GA 276FV
UT WOS:000328734900019
PM 24352914
ER
PT J
AU Terrone, G
Cappuccio, G
Genesio, R
Esposito, A
Fiorentino, V
Riccitelli, M
Nitsch, L
Brunetti-Pierri, N
Del Giudice, E
AF Terrone, Gaetano
Cappuccio, Gerarda
Genesio, Rita
Esposito, Annalisa
Fiorentino, Valeria
Riccitelli, Marina
Nitsch, Lucio
Brunetti-Pierri, Nicola
Del Giudice, Ennio
TI A Case of 14q11.2 Microdeletion With Autistic Features, Severe Obesity
and Facial Dysmorphisms Suggestive of Wolf-Hirschhorn Syndrome
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE 14q11; 2 microdeletion syndrome; CHD8 gene; MMP14 gene; Wolf-Hirschhorn
syndrome
ID SPECTRUM DISORDERS; DNA-DAMAGE; MICE; REPAIR
AB We report on a 21-year old woman with intellectual disability, autistic features, severe obesity, and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome (WHS). Array-CGH analysis showed a 2.89Mb deletion on chromosome 14q11.2 containing 47 known genes. The most interesting genes included in this deletion are CHD8, a chromodomain helicase DNA binding protein that is associated with autism spectrum disorders, and MMP14, a matrix metalloproteinase that has been linked to obesity and type 2 diabetes. This report shows that 14q11.2 microdeletions can mimic WHS and suggests that gene(s) in the deleted interval that may be responsible for a phenocopy of WHS. (c) 2013 Wiley Periodicals, Inc.
C1 [Terrone, Gaetano; Cappuccio, Gerarda; Esposito, Annalisa; Fiorentino, Valeria; Riccitelli, Marina; Brunetti-Pierri, Nicola; Del Giudice, Ennio] Univ Naples Federico II, Dept Translat Med, Sect Pediat, Naples, Italy.
[Genesio, Rita; Nitsch, Lucio] Univ Naples Federico II, Dept Mol Med & Med Biotechnol, Naples, Italy.
RP Terrone, G (reprint author), Univ Naples Federico II, Dept Translat Med, Sect Pediat, Naples, Italy.
EM gaetanoterrone@virgilio.it
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NR 14
TC 2
Z9 3
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 JAN
PY 2014
VL 164
IS 1
BP 190
EP 193
DI 10.1002/ajmg.a.36200
PG 4
WC Genetics & Heredity
SC Genetics & Heredity
GA 276FV
UT WOS:000328734900026
PM 24243641
ER
PT J
AU Okamoto, N
Fujii, T
Tanaka, J
Saito, K
Matsui, T
Harada, N
AF Okamoto, Nobuhiko
Fujii, Tatsuya
Tanaka, Junko
Saito, Kazumasa
Matsui, Takeshi
Harada, Naoki
TI A Clinical Study of Patients With Pericentromeric Deletion and
Duplication Within 16p12.2-p11.2
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE 16p12; 2-p11; 2 deletion; 16p12; 2-p11; 2 duplication; SNP array;
chromosomal aberration
ID MICRODELETION SYNDROME; DEVELOPMENTAL DELAY; 16P11.2; AUTISM;
MICRODUPLICATION; OBESITY
AB The short arm of chromosome 16 is rich in segmental duplications that result in chromosomal rearrangements through non-allelic homologous recombination. Several syndromes resulting from microdeletions or microduplications in this region have been reported. The chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-Mb [OMIM#613604] is characterized by minor facial anomalies, feeding difficulties, a significant delay in speech development, and recurrent ear infections. Reciprocal duplications of 16p12.2-p11.2 have been reported in some patients with autism. We identified a patient with a 16p12.2-p11.2 deletion and a patient with a 16p12.2-p11.2 duplication using oligonucleotide SNP array. The patient with the deletion showed severe developmental delay without autism. The patient with the deletion shared clinical features with previously reported patients. The patient with the duplication showed mild developmental delay and autism. She had dysmorphic features including a round face, a large mouth, and relative macrocephaly. We reviewed the reports of the two syndromes and compared the clinical manifestations. The 16p12.2-p11.2 duplication syndrome is a new syndrome with autism spectral disorders and dysmorphic features. (c) 2013 Wiley Periodicals, Inc.
C1 [Okamoto, Nobuhiko] Osaka Med Ctr, Dept Med Genet, Osaka 5941101, Japan.
[Okamoto, Nobuhiko] Res Inst Maternal & Child Hlth, Osaka, Japan.
[Fujii, Tatsuya] Shiga Med Ctr Children, Dept Pediat, Shiga, Japan.
[Tanaka, Junko] Tanaka Kitaumeda Clin, Osaka, Japan.
[Saito, Kazumasa; Matsui, Takeshi; Harada, Naoki] Mitsubishi Chem Med Corp, Dept Mol Genet Res, Tokyo, Japan.
RP Okamoto, N (reprint author), Osaka Med Ctr, Res Inst Maternal, Dept Med Genet, Izumi Ku, 840 Murodo Cho, Osaka 5941101, Japan.
EM okamoto@osaka.email.ne.jp
FU Ministry of Health, Labor, and Welfare in Japan
FX We thank for the family for their cooperation. This study was supported
by the Health and Labor Research Grants in 2012 by Ministry of Health,
Labor, and Welfare in Japan.
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NR 15
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 JAN
PY 2014
VL 164
IS 1
BP 213
EP 219
DI 10.1002/ajmg.a.36217
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA 276FV
UT WOS:000328734900031
PM 24259393
ER
PT J
AU Pua, HH
Krishnamurthi, S
Farrell, J
Margeta, M
Ursell, PC
Powers, M
Slavotinek, AM
Jeng, LJB
AF Pua, Heather H.
Krishnamurthi, Swetha
Farrell, Jessica
Margeta, Marta
Ursell, Philip C.
Powers, Martin
Slavotinek, Anne M.
Jeng, Linda J. B.
TI Novel Interstitial 2.6 Mb Deletion on 9q21 Associated With Multiple
Congenital Anomalies
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE 9q21 deletion; craniofacial abnormalities; cleft palate; heart septal
defects; atrial; bicorunate uterus; hip dislocation; muscle hypotonia;
comparative genomic hybridization
ID MYELOID-LEUKEMIA; IDENTIFICATION; DROSOPHILA; MELANOMA; COMPLEX;
PROTEIN; GTPASE; GENOME; ROLES
AB Array comparative genomic hybridization (aCGH) is now commonly used to identify copy number changes in individuals with developmental delay, intellectual disabilities, autism spectrum disorders, and/or multiple congenital anomalies. We report on an infant with multiple congenital anomalies and a novel 2.6Mb interstitial deletion within 9q21.32q21.33 detected by aCGH. Her clinical presentation included dysmorphic craniofacial features, cleft palate, atrial septal defect, bicornuate uterus, bilateral hip dislocation, hypotonia, and recurrent pneumonia. Parental aCGH studies were negative for copy loss in this region. To our knowledge, no similar deletions have been reported in available databases or published literature. This deletion encompasses 12 genes, and prediction algorithms as well as experimental data suggest that a subset is likely to be haploinsufficient. Included are a neurotrophin receptor (NKG2D), a gene implicated in cilia function (KIF27), an adaptor protein important for ubiquitin-dependent protein quality control (UBQLN1), a gene important for transcription and signaling (HNRNPK), and a gene involved in maintaining genomic stability (RMI1). Identifying additional patients with similar copy losses and further study of these genes will contribute to a better understanding of the pathophysiology of multiple congenital anomalies. (c) 2013 Wiley Periodicals, Inc.
C1 [Pua, Heather H.; Farrell, Jessica; Margeta, Marta; Ursell, Philip C.; Powers, Martin] Univ Calif San Francisco, Dept Pathol, San Francisco, CA 94140 USA.
[Krishnamurthi, Swetha; Slavotinek, Anne M.] Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA USA.
[Powers, Martin; Jeng, Linda J. B.] Univ Calif San Francisco, Dept Lab Med, San Francisco, CA 94143 USA.
RP Jeng, LJB (reprint author), UCSF Clin Labs China Basin, Dept Lab Med, 185 Berry St,Suite 290, San Francisco, CA 94107 USA.
EM jengl@labmed2.ucsf.edu
FU Wellcome Trust
FX Grant sponsor: Wellcome Trust.
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NR 27
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 JAN
PY 2014
VL 164
IS 1
BP 237
EP 242
DI 10.1002/ajmg.a.36230
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA 276FV
UT WOS:000328734900035
PM 24501764
ER
PT J
AU Kraneveld, AD
de Theije, CGM
van Heesch, F
Borre, Y
de Kivit, S
Olivier, B
Korte, M
Garssen, J
AF Kraneveld, Aletta D.
de Theije, Caroline G. M.
van Heesch, Floor
Borre, Yuliya
de Kivit, Sander
Olivier, Berend
Korte, Mechiel
Garssen, Johan
TI The Neuro-Immune Axis: Prospect for Novel Treatments for Mental
Disorders
SO BASIC & CLINICAL PHARMACOLOGY & TOXICOLOGY
LA English
DT Review
ID AUTISM SPECTRUM DISORDERS; MAJOR DEPRESSIVE DISORDER;
NECROSIS-FACTOR-ALPHA; INTRACRANIAL SELF-STIMULATION;
RANDOMIZED-CONTROLLED-TRIAL; TO-BRAIN CONNECTION; FOOD ALLERGY;
SEROTONIN TRANSPORTER; GUT MICROBIOTA; INFLAMMATORY CYTOKINES
AB Disturbed bidirectional pathways between the (central) nervous system and immune system have been implicated in various mental disorders, including depressive and neurodevelopmental disorders. In this minireview, the role of the neuro-immune axis and its targetability in relation to major depression and autism spectrum disorder will be discussed. All together, the management of these and possibly other multi-factorial mental disorders needs a new and integrated therapeutic approach. Pharmacologically bioactive molecules as well as medical nutrition targeting the (gut)-immune-brain axis could be such an approach.
C1 [Kraneveld, Aletta D.; de Theije, Caroline G. M.; van Heesch, Floor; Borre, Yuliya; de Kivit, Sander; Olivier, Berend; Korte, Mechiel; Garssen, Johan] Univ Utrecht, Utrecht Inst Pharmaceut Sci, Fac Sci, Div Pharmacol, NL-3584 CG Utrecht, Netherlands.
[Garssen, Johan] Nutricia Res, Dept Immunol, Utrecht, Netherlands.
RP Kraneveld, AD (reprint author), Univ Utrecht, Utrecht Inst Pharmaceut Sci, Fac Sci, Div Pharmacol, Univ Weg 99, NL-3584 CG Utrecht, Netherlands.
EM a.d.kraneveld@uu.nl
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NR 128
TC 4
Z9 4
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1742-7835
EI 1742-7843
J9 BASIC CLIN PHARMACOL
JI Basic Clin. Pharmacol. Toxicol.
PD JAN
PY 2014
VL 114
IS 1
BP 128
EP 136
DI 10.1111/bcpt.12154
PG 9
WC Pharmacology & Pharmacy; Toxicology
SC Pharmacology & Pharmacy; Toxicology
GA 275LW
UT WOS:000328679100020
PM 24118847
ER
PT J
AU Van den Eynde, K
Missault, S
Fransen, E
Raeymaekers, L
Willems, R
Drinkenburg, W
Timmermans, JP
Kumar-Singh, S
Dedeurwaerdere, S
AF Van den Eynde, Karlien
Missault, Stephan
Fransen, Erik
Raeymaekers, Leen
Willems, Roland
Drinkenburg, Wilhelmus
Timmermans, Jean-Pierre
Kumar-Singh, Samir
Dedeurwaerdere, Stefanie
TI Hypolocomotive behaviour associated with increased microglia in a
prenatal immune activation model with relevance to schizophrenia
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Poly I:C; Maternal immune activation; Neuroinflammation; Schizophrenia;
Autism; Locomotion
ID DISRUPTED LATENT INHIBITION; PLACEBO-CONTROLLED TRIAL; PREPULSE
INHIBITION; ANIMAL-MODEL; DOUBLE-BLIND; ADULT RATS; BRAIN; CHALLENGE;
PREGNANCY; CELECOXIB
AB Over the past decade a neurodevelopmental animal model with high validity for schizophrenia has been developed based on the environmental risk factor known as maternal immune activation (MIA). The immunological basis of this model, together with extensive data from clinical and preclinical context, suggests the involvement of an aberrant neuro-immune system in the pathophysiology of schizophrenia. The goal of this study was to examine microglia activation in adult behaviourally phenotyped MIA offspring. MIA was induced in pregnant rats using viral mimetic Poly I:C at gestational day 15. Adult offspring were behaviourally phenotyped at postnatal days (PND) 56,90 and 180 through the evaluation of prepulse inhibition (PPI) of the acoustic startle and spontaneous locomotion. Finally, the presence of activated microglia in brain regions associated with schizophrenia was evaluated using post-mortem immunohistochemistry against OX-42 (CD11b) and ED-1 (CD68). Although a deficit in PPI could not be replicated despite the high number of animals tested, we found an overall decrease in basal startle response and spontaneous locomotion in offspring born to Poly I:C- compared to saline-treated dams, accompanied by increased microglial density with characteristics of non-reactive activation in the chronic stage of the model. These findings provide additional evidence for a role played by microglial activation in schizophrenia-related pathology in general and psychomotor slowing in particular, and warrant extensive research on the underlying mechanism in order to establish new drug targets for the treatment of schizophrenia patients with an inflammatory component. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Van den Eynde, Karlien; Missault, Stephan; Dedeurwaerdere, Stefanie] Univ Antwerp, Expt Lab Translat Neurosci & Otolaryngol, B-2610 Antwerp, Belgium.
[Fransen, Erik] Univ Antwerp, StatUA, B-2650 Edegem, Belgium.
[Raeymaekers, Leen; Willems, Roland; Drinkenburg, Wilhelmus] Div Janssen Pharmaceut NV, Janssen Res & Dev, B-2340 Beerse, Belgium.
[Timmermans, Jean-Pierre; Kumar-Singh, Samir] Univ Antwerp, Lab Cell Biol & Histol, B-2020 Antwerp, Belgium.
RP Dedeurwaerdere, S (reprint author), Univ Antwerp, Expt Lab Translat Neurosci & Otolaryngol, Campus Drie Eiken,DT 420,Univ Pl 1, B-2610 Antwerp, Belgium.
EM Stefanie.Dedeurwaerdere@ua.ac.be
RI Fransen, Erik/C-4102-2015
OI Fransen, Erik/0000-0001-7785-4790
FU Johnson Johnson; Research Foundation Flanders (FWO) [G.0586.12];
Bijzonder OnderzoeksFonds (BOF) of the University of Antwerp; PhD
fellowship "FWO aspirant"
FX The present study was supported by Johnson & Johnson, Research
Foundation Flanders (FWO) funding (G.0586.12) and Bijzonder
OnderzoeksFonds (BOF) of the University of Antwerp. Stephan Missault is
supported by a PhD fellowship "FWO aspirant". We are extremely grateful
to Isabel Pintelon, Annemie Van Eetveldt and Krystyna Szewczyk for their
support with the immunohistochemical studies.
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NR 55
TC 4
Z9 4
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 JAN 1
PY 2014
VL 258
BP 179
EP 186
DI 10.1016/j.bbr.2013.10.005
PG 8
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 277FT
UT WOS:000328805100022
PM 24129217
ER
PT J
AU King, BH
de Lacy, N
Siegel, M
AF King, Bryan H.
de Lacy, Nina
Siegel, Matthew
TI Psychiatric Assessment of Severe Presentations in Autism Spectrum
Disorders and Intellectual Disability
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Autism; Intellectual disability; Self-injury; Aggression; Hyperactivity;
Psychiatric evaluation
ID FRAGILE-X-SYNDROME; TUBEROUS SCLEROSIS COMPLEX; MENTAL-RETARDATION;
DEVELOPMENTAL DELAY; REFERRED POPULATION; BEHAVIORAL-PROBLEMS;
LIFE-EVENTS; CHILDREN; ADULTS; ADHD
AB Children with autism spectrum and related disorders and intellectual disability are not protected from the experience of psychiatric illnesses. Many factors can contribute to exacerbation of existing behavioral symptoms or to the emergence of new psychiatric problems. The psychiatric assessment must thus take into account a range of possible etiologic or contributory factors. The approach outlined in this article highlights the value of assessing 4 broad domains, including diagnostic (genetic) factors, medical considerations, developmental influences, and environmental factors. Examples of how the consideration of each of these domains may inform the diagnostic formulation are highlighted.
C1 [King, Bryan H.] Seattle Childrens Hosp, Seattle Childrens Autism Ctr, Dept Psychiat & Behav Med, Seattle, WA USA.
[King, Bryan H.; de Lacy, Nina] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA.
[Siegel, Matthew] Tufts Univ, Sch Med, Boston, MA 02111 USA.
[Siegel, Matthew] Maine Med Ctr, Res Inst, Westbrook, ME USA.
RP King, BH (reprint author), Seattle Childrens Hosp, Seattle Childrens Autism Ctr, Dept Psychiat & Behav Med, Seattle, WA USA.
EM bhking@u.washington.edu
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NR 63
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 JAN
PY 2014
VL 23
IS 1
BP 1
EP +
DI 10.1016/j.chc.2013.07.001
PG 15
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400002
PM 24231163
ER
PT J
AU Siegel, M
King, BH
AF Siegel, Matthew
King, Bryan H.
TI Autism and Developmental Disorders: Management of Serious Behavioral
Disturbance Preface
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Editorial Material
C1 [Siegel, Matthew] Spring Harbor Hosp, Dev Disorders Program, Westbrook, ME 04092 USA.
[King, Bryan H.] Seattle Childrens Hosp, Dept Psychiat & Behav Med, Seattle, WA 98105 USA.
RP Siegel, M (reprint author), Spring Harbor Hosp, Dev Disorders Program, 123 Andover Rd, Westbrook, ME 04092 USA.
EM siegem@springharbor.org; bhking@u.washington.edu
NR 0
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 JAN
PY 2014
VL 23
IS 1
BP XIII
EP XV
DI 10.1016/j.chc.2013.08.007
PG 3
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400001
PM 24231174
ER
PT J
AU Mazefsky, CA
White, SW
AF Mazefsky, Carla A.
White, Susan W.
TI Emotion Regulation Concepts & Practice in Autism Spectrum Disorder
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Emotion regulation; Autism spectrum disorder; Therapy; Behavioral
problems; Review
ID HIGH-FUNCTIONING AUTISM; COGNITIVE-BEHAVIOR THERAPY; ANXIETY DISORDERS;
ASPERGERS-SYNDROME; CHILDREN; PSYCHOPATHOLOGY; DEPRESSION; ADULTS;
ADOLESCENCE; MINDFULNESS
AB The purpose of this article is to describe emotion regulation, and how emotion regulation may be compromised in patients with autism spectrum disorder (ASD). This information may be useful for clinicians working with children with ASD who exhibit behavioral problems. Suggestions for practice are provided.
C1 [Mazefsky, Carla A.] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA 15213 USA.
[White, Susan W.] Virginia Tech, Dept Psychol, Blacksburg, VA 24061 USA.
RP Mazefsky, CA (reprint author), Univ Pittsburgh, Sch Med, Dept Psychiat, 3811 OHara St,Webster Hall,Suite 300, Pittsburgh, PA 15213 USA.
EM mazefskyca@upmc.edu
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NR 61
TC 2
Z9 2
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 JAN
PY 2014
VL 23
IS 1
BP 15
EP +
DI 10.1016/j.chc.2013.07.002
PG 11
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400003
PM 24231164
ER
PT J
AU Doehring, P
Reichow, B
Palka, T
Phillips, C
Hagopian, L
AF Doehring, Peter
Reichow, Brian
Palka, Tamara
Phillips, Cara
Hagopian, Louis
TI Behavioral Approaches to Managing Severe Problem Behaviors in Children
with Autism Spectrum and Related Developmental Disorders A Descriptive
Analysis
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Autism; Intellectual disability; Aggression; Self-injury; Behavioral
intervention; Applied behavior analysis; Outcome research; Children
ID SELF-INJURIOUS-BEHAVIOR; INTELLECTUAL DISABILITIES; CHALLENGING
BEHAVIORS; FUNCTIONAL-ANALYSIS; INDIVIDUALS; RISK; INTERVENTION;
MANAGEMENT; RESTRAINT; ISSUES
AB Severe problem behaviors such as aggression, self-injury, and property destruction can result in injury, and require specialized and expensive treatment. This article reviews outcome research published since 1995 that used behavioral techniques to decrease severe problem behaviors among children and adolescents with autism spectrum disorder and/or intellectual disability. Many relatively simple interventions were reported to significantly reduce severe problem behavior, which offers hope for practitioners. Nonetheless, these studies also reveal a risk for injury and a need for specialized assessment and placement, careful tracking, and high-quality treatment that few agencies could likely replicate without increases in training and support.
C1 [Doehring, Peter] ASD Roadmap, Chadds Ford, PA 19317 USA.
[Reichow, Brian] Yale Univ, Sch Med, Ctr Child Study, New Haven, CT 06519 USA.
[Palka, Tamara] Fdn Behav Hlth, Dev Disorders Unit, Doylestown, PA 18901 USA.
[Phillips, Cara] Johns Hopkins Sch Med, Kennedy Krieger Inst, Neurobehav Inpatient Unit, Baltimore, MD 21205 USA.
[Hagopian, Louis] Johns Hopkins Univ, Dept Psychiat & Behav Sci, Johns Hopkins Sch Med, Sch Med,Neurobehav Inpatient Unit, Baltimore, MD 21205 USA.
RP Doehring, P (reprint author), ASD Roadmap, 5 9 Gates Rd, Chadds Ford, PA 19317 USA.
EM peter@asdroadmap.org
CR Anderson C, 2012, PEDIATRICS, V130, P870, DOI 10.1542/peds.2012-0762
[Anonymous], 2009, NAT STAND PROJ ADDR
Autism and Developmental Disabilities Monitoring Network Surveillance Principal Investigators, 2012, MMWR SURVEILL SUMM, V61, P1
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NR 48
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 JAN
PY 2014
VL 23
IS 1
BP 25
EP +
DI 10.1016/j.chc.2013.08.001
PG 17
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400004
PM 24231165
ER
PT J
AU Hutchins, TL
Prelock, PA
AF Hutchins, Tiffany L.
Prelock, Patricia A.
TI Using Communication to Reduce Challenging Behaviors in Individuals with
Autism Spectrum Disorders and Intellectual Disability
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Autism Spectrum Disorder; Intellectual Disability; Communication;
Behavior; Intervention
ID YOUNG-CHILDREN; DISRUPTIVE BEHAVIOR; PRESCHOOL-CHILDREN; TOTAL
POPULATION; SOCIAL STORIES; RISK-FACTORS; SYSTEM PECS; PLAY SKILLS;
PHASE-III; LANGUAGE
AB This article describes the relationship between expressive communication impairments and common challenging behaviors in individuals with Autism Spectrum Disorder and Intellectual Disability. The communication challenges of individuals with Autism Spectrum Disorder/Intellectual Disability are described and several evidence-based intervention strategies are proposed to support communication so as to decrease challenging behaviors. Recommendations for practice are offered.
C1 [Hutchins, Tiffany L.] Univ Vermont, Dept Commun Sci & Disorders, Burlington, VT 05405 USA.
[Prelock, Patricia A.] Univ Vermont, Dept Commun Sci & Disorders, Coll Nursing & Hlth Sci, Deans Off, Burlington, VT 05405 USA.
[Prelock, Patricia A.] Univ Vermont, Coll Med, Burlington, VT 05405 USA.
RP Hutchins, TL (reprint author), Univ Vermont, Dept Commun Sci & Disorders, 407 Pomeroy Hall,489 Main St, Burlington, VT 05405 USA.
EM Tiffany.Hutchins@uvm.edu
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NR 83
TC 2
Z9 2
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 JAN
PY 2014
VL 23
IS 1
BP 41
EP +
DI 10.1016/j.chc.2013.07.003
PG 16
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400005
PM 24231166
ER
PT J
AU Carroll, D
Hallett, V
McDougle, CJ
Aman, MG
McCracken, JT
Tierney, E
Arnold, LE
Sukhodolsky, DG
Lecavalier, L
Handen, BL
Swiezy, N
Johnson, C
Bearss, K
Vitiello, B
Scahill, L
AF Carroll, Devon
Hallett, Victoria
McDougle, Christopher J.
Aman, Michael G.
McCracken, James T.
Tierney, Elaine
Arnold, L. Eugene
Sukhodolsky, Denis G.
Lecavalier, Luc
Handen, Benjamin L.
Swiezy, Naomi
Johnson, Cynthia
Bearss, Karen
Vitiello, Benedetto
Scahill, Lawrence
TI Examination of Aggression and Self-injury in Children with Autism
Spectrum Disorders and Serious Behavioral Problems
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Aggression; Self-injury; Autism; Disruptive behavior
ID PERVASIVE DEVELOPMENTAL DISORDERS; PROACTIVE AGGRESSION; YOUNG-PEOPLE;
IMPULSIVE AGGRESSION; ADOLESCENTS; RISPERIDONE; MEDICATION; TRIAL;
PSYCHIATRY; HYPERACTIVITY
AB This study identified subtypes of aggression in a sample of 206 children with autism spectrum disorder (ASD) who participated in 2 risperidone trials. The narratives were derived from a parent interview about each child's 2 most pressing problems. Five subtypes of aggression emerged: hot aggression only, cold aggression only, self-injurious behavior (SIB) only, aggression and SIB, and nonaggressive. All groups showed a high rate of positive response to risperidone with no differences across subtypes. These study findings extend understanding of aggression in ASD and may be useful to guide further study on biological mechanisms and individualized treatment in ASD.
C1 [Carroll, Devon] Family & Childrens Aid, Danbury, CT USA.
[Hallett, Victoria] Kings Coll London, London, England.
[McDougle, Christopher J.] Harvard Univ, Cambridge, MA 02138 USA.
[Aman, Michael G.; Arnold, L. Eugene; Lecavalier, Luc] Ohio State Univ, Columbus, OH 43210 USA.
[McCracken, James T.] Univ Calif Los Angeles, Los Angeles, CA USA.
[Tierney, Elaine] Kennedy Krieger Baltimore, Baltimore, MD USA.
[Sukhodolsky, Denis G.] Yale Univ, New Haven, CT 06520 USA.
[Handen, Benjamin L.] Univ Pittsburgh, Sch Med, Western Psychiat Inst, Pittsburgh, PA 15260 USA.
[Handen, Benjamin L.] Univ Pittsburgh, Sch Med, Clin UPMC, Pittsburgh, PA 15260 USA.
[Handen, Benjamin L.] Univ Pittsburgh, Dept Educ Psychol, Pittsburgh, PA USA.
[Johnson, Cynthia] Univ Pittsburgh, Pittsburgh, PA USA.
[Swiezy, Naomi] Indiana Univ, Bloomington, IN 47405 USA.
[Bearss, Karen; Scahill, Lawrence] Emory Univ, Atlanta, GA 30322 USA.
[Vitiello, Benedetto] NIMH, Bethesda, MD USA.
RP Scahill, L (reprint author), Marcus Ctr, 1920 Briarcliff Rd, Atlanta, GA 30329 USA.
EM lawrence.scahill@emory.edu
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NR 54
TC 2
Z9 2
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 JAN
PY 2014
VL 23
IS 1
BP 57
EP +
DI 10.1016/j.chc.2013.08.002
PG 17
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400006
PM 24231167
ER
PT J
AU Stigler, KA
AF Stigler, Kimberly A.
TI Psychopharmacologic Management of Serious Behavioral Disturbance in ASD
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Autism; Autism spectrum disorders; Aggression; Irritability;
Self-injury; Psychopharmacology
ID PERVASIVE DEVELOPMENTAL DISORDERS; YOUNG AUTISTIC-CHILDREN; OPEN-LABEL;
DOUBLE-BLIND; OPEN TRIAL; RISPERIDONE TREATMENT; SPECTRUM DISORDERS;
PEDIATRIC-PATIENTS; ADOLESCENTS; PLACEBO
AB Individuals diagnosed with autism spectrum disorders (ASD) often exhibit serious behavioral disturbance (irritability) including severe tantrums, aggression, and self-injury that requires pharmacologic management. Research focused on the treatment of severe irritability has primarily involved the atypical antipsychotics, including risperidone and aripiprazole. Anticonvulsants have also been investigated for targeting serious behavioral disturbance; however findings have been mixed. Advances in the pharmacotherapy of irritability in ASD continue to inform practice. Research is needed to develop safer and more effective drug treatments for serious behavioral disturbance in this population.
C1 Indiana Univ Sch Med, Riley Hosp Children, Dept Psychiat, Christian Sarkine Autism Treatment Ctr, Indianapolis, IN 46202 USA.
RP Stigler, KA (reprint author), Indiana Univ Sch Med, Riley Hosp Children, Dept Psychiat, Christian Sarkine Autism Treatment Ctr, Room 4300,705 Riley Hosp Dr, Indianapolis, IN 46202 USA.
EM kstigler@iupui.edu
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NR 45
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 JAN
PY 2014
VL 23
IS 1
BP 73
EP +
DI 10.1016/j.chc.2013.07.005
PG 11
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400007
PM 24231168
ER
PT J
AU McGonigle, JJ
Venkat, A
Beresford, C
Campbell, TP
Gabriels, RL
AF McGonigle, John J.
Venkat, Arvind
Beresford, Carol
Campbell, Thomas P.
Gabriels, Robin L.
TI Management of Agitation in Individuals with Autism Spectrum Disorders in
the Emergency Department
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Autism spectrum disorders; Emergency department; Crisis management;
Acute agitation; Emergency evaluation and treatment; Least-restrictive
treatment model; Restraint
ID PSYCHIATRIC-DISORDERS; CHILDREN; MIDAZOLAM; BEHAVIORS; PREVALENCE;
DIAGNOSIS; FEATURES; PATIENT; RATES; CARE
AB Individuals with autism spectrum disorder (ASD) presenting with acute agitation in emergency departments (ED) during a crisis situation present both diagnostic and treatment challenges for ED personnel, families, caregivers, and patients seeking treatment. This article describes the challenges that individuals with ASD face when receiving treatment in crisis and emergency settings. Additionally, this article provides information for emergency physicians, ED personnel, and crisis response teams on a systematic, minimally restrictive approach when assessing and providing treatment to patients with ASD presenting with acute agitation in ED settings.
C1 [McGonigle, John J.] Univ Pittsburgh, Sch Med, Western Psychiat Inst, Pittsburgh, PA 15213 USA.
[McGonigle, John J.] Univ Pittsburgh, Sch Med, Clin UPMC, Pittsburgh, PA 15213 USA.
[Venkat, Arvind; Campbell, Thomas P.] West Penn Allegheny Hlth Syst, Dept Emergency Med, Pittsburgh, PA 15212 USA.
[Beresford, Carol; Gabriels, Robin L.] Univ Colorado Denver, Childrens Hosp Colorado, Dept Psychiat, Aurora, CO 80045 USA.
RP McGonigle, JJ (reprint author), Univ Pittsburgh, Sch Med, Western Psychiat Inst, 3811 OHara St, Pittsburgh, PA 15213 USA.
EM mcgoniglejj@upmc.edu
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NR 52
TC 2
Z9 2
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 JAN
PY 2014
VL 23
IS 1
BP 83
EP +
DI 10.1016/j.chc.2013.08.003
PG 15
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400008
PM 24231169
ER
PT J
AU Lubetsky, MJ
Handen, BL
Lubetsky, M
McGonigle, JJ
AF Lubetsky, Martin J.
Handen, Benjamin L.
Lubetsky, Michelle
McGonigle, John J.
TI Systems of Care for Individuals with Autism Spectrum Disorder and
Serious Behavioral Disturbance Through the Lifespan
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Autism; Systems of care; Service delivery; Early intervention;
Department of Developmental and Intellectual Disabilities; Department of
Education; Department of Mental Health/Behavioral Health; Office of
Vocational Rehabilitation
ID CHILDREN
AB Individuals with Autism Spectrum Disorder present with unique characteristics, and the interventions designed to address associated challenging behaviors must be highly individualized to best meet their needs and those of their families. This article reviews systems of care to support the child, adolescent, or adult with Autism Spectrum Disorder and/or Intellectual Disability. The review describes mental health/behavioral health services, Intellectual Disability and other support systems, and the systems involved in a child and adolescent's life and transition to adulthood. The types of systems and services, as well as barriers, are delineated with a brief listing of Web sites and references.
C1 [Lubetsky, Martin J.; Handen, Benjamin L.; McGonigle, John J.] Univ Pittsburgh, Sch Med, Dept Psychiat, Western Psychiat Inst, Pittsburgh, PA 15213 USA.
[Lubetsky, Martin J.; Handen, Benjamin L.; McGonigle, John J.] Univ Pittsburgh, Sch Med, Clin UPMC, Pittsburgh, PA 15213 USA.
[Lubetsky, Michelle] Allegheny Intermediate Unit, Homestead, PA 15120 USA.
RP Lubetsky, MJ (reprint author), Univ Pittsburgh, Sch Med, Dept Psychiat, Western Psychiat Inst, 3811 OHara St, Pittsburgh, PA 15213 USA.
EM lubetskymj@upmc.edu
CR [Anonymous], 2004, PENNSYLVANIA AUTISM
[Anonymous], 2010, AUTISM GUIDEBOOK WAS
[Anonymous], 2012, STAT REP AUT REC
[Anonymous], 2012, CAR CHILD AUT SPECTR
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[Anonymous], 2012, APPL PRINC MAN CAR A
[Anonymous], 2012, ADDR NEEDS IND AUT S
[Anonymous], 2011, PENNSYLVANIA AUTISM
[Anonymous], 2012, DISCUSSION SYSTEM DE
[Anonymous], 2012, AUT CAL 2012 SURV
[Anonymous], 2009, PENNSYLVANIA ADULT A
[Anonymous], 2012, PUTT PIEC TOG
[Anonymous], 2012, EXPLORATION FISCAL R
[Anonymous], 2012, INS COV AUT
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NR 28
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 JAN
PY 2014
VL 23
IS 1
BP 97
EP +
DI 10.1016/j.chc.2013.08.004
PG 15
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400009
PM 24231170
ER
PT J
AU McNellis, CA
Harris, T
AF McNellis, Carol Anne
Harris, Todd
TI Residential Treatment of Serious Behavioral Disturbance in Autism
Spectrum Disorder and Intellectual Disability
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Autism; Intellectual disability; Serious behavioral disturbance;
Residential treatment
ID SEVERELY HANDICAPPED STUDENTS; MENTAL-HEALTH-SERVICES; CHILDREN; SKILLS;
ADOLESCENTS; PEOPLE; INTERVENTIONS; PREVALENCE; SYMPTOMS; FEEDBACK
AB For children diagnosed with an autism spectrum disorder and/or intellectual disability, the co-occurrence of serious behavioral disturbance can pose significant health and safety risks, impede normal learning and development, and put great stress on family systems. The complexity and seriousness of the clinical concerns often tax the existing service and funding systems. Although residential treatment has been criticized as an outdated and ineffective mode of treatment, newer models of residential treatment that combine specialized comprehensive services, evidence-based interventions, intensive family support and training, and treatment overlap with community providers can offer an effective and efficient treatment option.
C1 [McNellis, Carol Anne] Devereux Penn Childrens ID D Serv, W Chester, PA 19380 USA.
[Harris, Todd] Devereux Penn, Downingtown, PA 19350 USA.
RP McNellis, CA (reprint author), Devereux Penn Childrens ID D Serv, 390 East Boot Rd, W Chester, PA 19380 USA.
EM cmcnelli@devereux.org
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NR 58
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 JAN
PY 2014
VL 23
IS 1
BP 111
EP +
DI 10.1016/j.chc.2013.08.005
PG 15
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400010
PM 24231171
ER
PT J
AU Siegel, M
Gabriels, RL
AF Siegel, Matthew
Gabriels, Robin L.
TI Psychiatric Hospital Treatment of Children with Autism and Serious
Behavioral Disturbance
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Inpatient; Autism; Intellectual disability; Hospitalization; Psychiatric
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; INTELLECTUAL
DISABILITIES; MENTAL-RETARDATION; YOUNG-CHILDREN; INPATIENT CARE;
ADOLESCENTS; INTERVENTION; INDIVIDUALS; DIAGNOSES
AB Children with autism spectrum disorder are psychiatrically hospitalized much more frequently than children in the general population. Hospitalization occurs primarily because of externalizing behaviors and is associated with behavioral disturbance, impaired emotion regulation, and psychiatric comorbidity. Additionally, a lack of practitioner and/or administrator training and experience with this population poses risks for denial of care by third-party payers or treatment facilities, inadequate treatment, extended lengths of stay, and poor outcomes. Evidence and best practices for the inpatient psychiatric care of this population are presented. Specialized treatment programs universally rely on multidisciplinary approaches, including behaviorally informed interventions.
C1 [Siegel, Matthew] Tufts Univ, Sch Med, Spring Harbor Hosp, Maine Med Ctr,Res Inst,Dev Disorders Program, Westbrook, ME 04096 USA.
[Gabriels, Robin L.] Univ Colorado Denver, Childrens Hosp Colorado, Neuropsychiat Special Care Program, Aurora, CO 80045 USA.
RP Siegel, M (reprint author), Tufts Univ, Sch Med, Spring Harbor Hosp, Maine Med Ctr,Res Inst,Dev Disorders Program, 123 Andover Rd, Westbrook, ME 04096 USA.
EM siegem@springharbor.org
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NR 56
TC 4
Z9 4
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 JAN
PY 2014
VL 23
IS 1
BP 125
EP +
DI 10.1016/j.chc.2013.07.004
PG 20
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400011
PM 24231172
ER
PT J
AU Smith, LE
Greenberg, JS
Mailick, MR
AF Smith, Leann E.
Greenberg, Jan S.
Mailick, Marsha R.
TI The Family Context of Autism Spectrum Disorders Influence on the
Behavioral Phenotype and Quality of Life
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Autism spectrum disorders; Family; Stress; Psychoeducation; Expressed
emotion
ID FRAGILE-X-SYNDROME; EXPRESSED EMOTION; INTELLECTUAL DISABILITIES; GROUP
PSYCHOEDUCATION; BIPOLAR DISORDER; YOUNG-CHILDREN; DOWN-SYNDROME;
ADOLESCENTS; ADULTS; MOTHERS
AB This article reports the findings from a longitudinal program of research examining the bidirectional influences of the family environment on the behavioral phenotype of autism, and describes a newly developed family psychoeducation program, titled Transitioning Together, designed to reduce family stress, address behavior problems, and improve the overall quality of life of adolescents with autism and their families. A case study is presented that illustrates how Transitioning Together helps reduce family stress and improve the overall quality of the family environment. The article concludes with a discussion of directions for future research on best practices in working with families of children, adolescents, and adults with autism.
C1 [Smith, Leann E.; Mailick, Marsha R.] Univ Wisconsin, Waisman Ctr, Madison, WI 53705 USA.
[Greenberg, Jan S.] Univ Wisconsin, Waisman Ctr, Sch Social Work, Madison, WI 53705 USA.
RP Mailick, MR (reprint author), Univ Wisconsin, Waisman Ctr, 1500 Highland Ave, Madison, WI 53705 USA.
EM Mailick@Waisman.Wisc.Edu
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NR 57
TC 2
Z9 2
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 JAN
PY 2014
VL 23
IS 1
BP 143
EP +
DI 10.1016/j.chc.2013.08.006
PG 14
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400012
PM 24231173
ER
PT J
AU Zhao, ZQ
Jia, SW
Hu, S
Sun, W
AF Zhao Zheng-qin
Jia Shao-wei
Hu Shu
Sun Wen
TI Evaluating the effectiveness of electro-acupuncture as a treatment for
childhood autism using single photon emission computed tomography
SO CHINESE JOURNAL OF INTEGRATIVE MEDICINE
LA English
DT Article
DE electro-acupuncture; single photon emission computed tomography;
childhood autism
ID ACUPOINT STIMULATION; SPECTRUM DISORDERS; BRAIN ACTIVITY; RAT-BRAIN;
ACUPUNCTURE; PREPROENKEPHALIN; PREVALENCE; FREQUENCY; PROTEINS; CHILDREN
AB To explore the effectiveness of electro-acupuncture (EA) in the treatment of childhood autism (CA) and evaluate its effectiveness using single photon emission computed tomography (SPECT).
A total of 55 CA patients (4.52 +/- 2.73 years) were enrolled in this study. All patients received EA treatments and were examined by SPECT before and after treatments.
Following treatment, the intracerebral multiple focal radioactivity distribution defect areas of CA patients were observed to be partially filled. Specifically, significant differences in the ratios of regional cerebral blood flow and global cerebral blood flow before (Fb) and after (Fe) EA treatment in different lesions were observed (in the left prefrontal cortex, t=5.01, P < 0.01; in the right prefrontal cortex, t=2.32, P < 0.05; in the left temporal lobe, t=4.54, P < 0.01; in the right temporal lobe, t=2.90, P < 0.05; in the left Broca's area, t=5.82, P < 0.01). After EA treatment, the patients exhibited symptomatic relief.
EA is useful to treat CA and SPECT can be used to evaluate the effectiveness of this treatment.
C1 [Zhao Zheng-qin; Jia Shao-wei; Hu Shu; Sun Wen] Peking Univ, Shenzhen Hosp, Dept Nucl Med, Shenzhen 518036, Guangdong, Peoples R China.
RP Jia, SW (reprint author), Peking Univ, Shenzhen Hosp, Dept Nucl Med, Shenzhen 518036, Guangdong, Peoples R China.
EM jiashaowei2003@163.com
FU Science and Technology Research Project of State Administration of
Traditional Chinese Medicine [00-01LP11]; Shenzhen Science and
Technology Project [201102015]
FX Supported by the Science and Technology Research Project of State
Administration of Traditional Chinese Medicine (No. 00-01LP11) and
Shenzhen Science and Technology Project (Health and Medicine Class, No.
201102015)
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NR 27
TC 1
Z9 1
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1672-0415
EI 1993-0402
J9 CHIN J INTEGR MED
JI Chin. J. Integr. Med.
PD JAN
PY 2014
VL 20
IS 1
BP 19
EP 23
DI 10.1007/s11655-014-1680-2
PG 5
WC Integrative & Complementary Medicine
SC Integrative & Complementary Medicine
GA 281JG
UT WOS:000329096500003
PM 24374754
ER
PT J
AU De Melo, J
He, L
Tang, D
AF De Melo, J.
He, L.
Tang, D.
TI The Protein-Protein Interaction-Mediated Inactivation of PTEN
SO CURRENT MOLECULAR MEDICINE
LA English
DT Article
DE AKT; cancer; PI3 kinase; PTEN; PTEN binding proteins; PTEN negative
regulators; tumourigenesis
ID TUMOR-SUPPRESSOR PTEN; MULTIPLE SEQUENCE ALIGNMENT; REGULATORY FACTOR-1
NHERF1; AUTISM SPECTRUM DISORDERS; HEREDITARY BREAST-CANCER;
OOCYTE-SPECIFIC DELETION; PHOSPHATASE-ACTIVITY; PROSTATE-CANCER;
ALPHA-MANNOSIDASE; UBIQUITIN LIGASE
AB PTEN (Phosphatase and Tensin homologue deleted on chromosome 10, 10q23.3) is the dominant phosphatase responsible for the dephosphorylation of the 3-position phosphate from the inositol ring of phosphatidylinositol 3,4,5 triphosphate (PIP3), and thereby directly antagonizes the actions mediated by Phosphatidylinositol-3 Kinase (PI3K). PI3K functions in numerous pathways and cellular processes, including tumourigenesis. Therefore, mechanisms regulating PTEN function, either positively or negatively are of great interest not only to oncogenesis but also to other aspects of human health. Since its discovery in 1997, PTEN has been one of the most-heavily studied tumour suppressors and has been the subject of numerous reviews. Most investigations and reviews center on PTEN's function and its regulation. While the regulation of PTEN function via genetic and/or epigenetic mechanisms has been extensively studied, the impact of protein-protein interaction on PTEN function remains less clear. Recent research has revealed that PTEN can be specifically inhibited by its interaction with other proteins, which are collectively termed PTEN-negative regulators (PTEN-NRs). This review will summarize our current understanding on the protein network that influences PTEN function with a specific focus on PTEN-NRs.
C1 [De Melo, J.; He, L.; Tang, D.] McMaster Univ, Dept Med, Div Nephrol, Hamilton, ON, Canada.
[De Melo, J.; He, L.; Tang, D.] McMaster Univ, Dept Surg, Div Urol, Hamilton, ON L8S 4L8, Canada.
[De Melo, J.; He, L.; Tang, D.] St Josephs Hosp, Father Sean OSullivan Res Inst, Hamilton, ON L8N 4A6, Canada.
[De Melo, J.; He, L.; Tang, D.] St Josephs Hosp, Hamilton Ctr Kidney Res, Hamilton, ON L8N 4A6, Canada.
RP Tang, D (reprint author), St Josephs Hosp, T3310,50 Charlton Ave East, Hamilton, ON L8N 4A6, Canada.
EM damut@mcmaster.ca
FU CIHR grant [COP - 107971]; St. Joseph's HealthCare at Hamilton, Ontario,
Canada
FX This work was supported by a CIHR grant (COP - 107971) to D. Tang. We
also like to acknowledge the financial support from St. Joseph's
HealthCare at Hamilton, Ontario, Canada to the Hamilton Centre for
Kidney Research (HCKR).
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NR 124
TC 2
Z9 2
PU BENTHAM SCIENCE PUBL LTD
PI SHARJAH
PA EXECUTIVE STE Y-2, PO BOX 7917, SAIF ZONE, 1200 BR SHARJAH, U ARAB
EMIRATES
SN 1566-5240
EI 1875-5666
J9 CURR MOL MED
JI Curr. Mol. Med.
PD JAN
PY 2014
VL 14
IS 1
BP 22
EP 33
PG 12
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA 282QQ
UT WOS:000329187800003
PM 24236460
ER
PT J
AU Cupples, L
Ching, TYC
Crowe, K
Seeto, M
Leigh, G
Street, L
Day, J
Marnane, V
Thomson, J
AF Cupples, Linda
Ching, Teresa Y. C.
Crowe, Kathryn
Seeto, Mark
Leigh, Greg
Street, Laura
Day, Julia
Marnane, Vivienne
Thomson, Jessica
TI Outcomes of 3-Year-Old Children With Hearing Loss and Different Types of
Additional Disabilities
SO JOURNAL OF DEAF STUDIES AND DEAF EDUCATION
LA English
DT Article
ID MULTIPLY HANDICAPPED-CHILDREN; COCHLEAR IMPLANTS; LANGUAGE-DEVELOPMENT;
SPEECH-PERCEPTION; AUDITORY SKILLS; DEAF-CHILDREN; PERFORMANCE; SCALE;
NEEDS
AB This research investigated the speech, language, and functional auditory outcomes of 119 3-year-old children with hearing loss and additional disabilities. Outcomes were evaluated using direct assessment and caregiver report. Multiple regressions revealed that type of additional disability and level of maternal education were significant predictors of language outcomes. Poorer outcomes were achieved in a combined group of children with autism, cerebral palsy, and/or developmental delay (DD) (Group A), compared with children with vision or speech output impairments, syndromes not entailing DD, or medical disorders (Group B). Better outcomes were associated with higher levels of maternal education. The association between better language outcomes and earlier cochlear implant switch-on approached significance. Further regression analyses were conducted separately for children with different types of additional disabilities. Level of maternal education was the only significant predictor of outcomes for Group A children, whereas degree of hearing loss was the strongest predictor for children in Group B. The findings highlight the variable impact that different types of additional disabilities can have on language development in children with hearing loss.
C1 [Cupples, Linda] Macquarie Univ, Sydney, NSW 2109, Australia.
[Leigh, Greg] Univ Newcastle, Royal Inst Deaf & Blind Children, Callaghan, NSW 2308, Australia.
RP Cupples, L (reprint author), Macquarie Univ, Ctr Cognit & Its Disorders, Australian Hearing Hub, 16 Univ Ave, Sydney, NSW 2109, Australia.
EM linda.cupples@mq.edu.au
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NR 36
TC 2
Z9 2
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1081-4159
EI 1465-7325
J9 J DEAF STUD DEAF EDU
JI J. Deaf Stud. Deaf Educ.
PD JAN
PY 2014
VL 19
IS 1
BP 20
EP 39
DI 10.1093/deafed/ent039
PG 20
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 280QL
UT WOS:000329045800003
PM 24150488
ER
PT J
AU Wiley, S
Gustafson, S
Rozniak, J
AF Wiley, Susan
Gustafson, Samantha
Rozniak, Justin
TI Needs of Parents of Children Who Are Deaf/Hard of Hearing With Autism
Spectrum Disorder
SO JOURNAL OF DEAF STUDIES AND DEAF EDUCATION
LA English
DT Article
ID DEAFNESS; REFLECTIONS; EXPERIENCES
AB Little is known about children who are deaf or hard of hearing (D/HH) with a coexisting autism spectrum disorder (ASD). The objective of our study was to understand the needs of children who are D/HH with coexisting ASD. We posed questions for group discussion about diagnostic process, impact of dual diagnosis on communication, and helpful resources. Four parents of three children participated. Challenges in the diagnostic process included the challenges in the appropriateness of the evaluation tools and the limited expertise of the professionals performing the evaluations. Broad-based special educational settings were perceived as helpful. Families described a range of broad-based communication strategies (spoken, sign, and written language, augmentative communication approaches). Families prioritized a focus on behavior and day-to-day functioning over academic performance. Families recognized the lack of professionals who understand ASD and deafness but have found the internet and technology as a mechanism to connect to information and families with similar needs.
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[Gustafson, Samantha] Vanderbilt Univ, Nashville, TN 37212 USA.
RP Wiley, S (reprint author), Cincinnati Childrens Hosp Med Ctr, Div Dev & Behav Pediat, 3333 Burnet Ave ML 4002, Cincinnati, OH 45229 USA.
EM susan.wiley@cchmc.org
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NR 25
TC 2
Z9 2
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1081-4159
EI 1465-7325
J9 J DEAF STUD DEAF EDU
JI J. Deaf Stud. Deaf Educ.
PD JAN
PY 2014
VL 19
IS 1
BP 40
EP +
DI 10.1093/deafed/ent044
PG 10
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 280QL
UT WOS:000329045800001
PM 24186644
ER
PT J
AU Hofheimer, JA
Sheinkopf, SJ
Eyler, LT
AF Hofheimer, Julie A.
Sheinkopf, Stephen J.
Eyler, Lisa T.
TI Autism Risk in Very Preterm Infants-New Answers, More Questions
SO JOURNAL OF PEDIATRICS
LA English
DT Editorial Material
ID SPECTRUM DISORDER; AGE; CHILDREN; TODDLERS; PREVALENCE; CHECKLIST
C1 [Hofheimer, Julie A.] Univ N Carolina, Dept Pediat, Div Neonatal Perinatal Med, Chapel Hill, NC 27599 USA.
[Sheinkopf, Stephen J.] Brown Univ, Dept Psychiat & Human Behav, Warren Alpert Med Sch, Providence, RI 02912 USA.
[Sheinkopf, Stephen J.] Women & Infants Hosp Rhode Isl, Providence, RI 02908 USA.
[Eyler, Lisa T.] Univ Calif San Diego, Dept Psychiat, VA San Diego Healthcare Syst, Mental Illness Res Educ & Clin Ctr, San Diego, CA 92103 USA.
[Eyler, Lisa T.] Univ Calif San Diego, Autism Ctr, VA San Diego Healthcare Syst, Mental Illness Res Educ & Clin Ctr, San Diego, CA 92103 USA.
RP Hofheimer, JA (reprint author), Univ N Carolina, Dept Pediat, Div Neonatal Perinatal Med, 101 Manning Dr,Suite 4051,CB 7596, Chapel Hill, NC 27599 USA.
EM julie_hofheimer@med.unc.edu
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Wong H, 2014, J PEDIAT, V164, P20
NR 28
TC 1
Z9 1
PU MOSBY-ELSEVIER
PI NEW YORK
PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0022-3476
EI 1097-6833
J9 J PEDIATR-US
JI J. Pediatr.
PD JAN
PY 2014
VL 164
IS 1
BP 6
EP 8
DI 10.1016/j.jpeds.2013.09.054
PG 3
WC Pediatrics
SC Pediatrics
GA 276FU
UT WOS:000328734700002
PM 24359898
ER
PT J
AU Kuzniewicz, MW
Wi, S
Qian, YG
Walsh, EM
Armstrong, MA
Croen, LA
AF Kuzniewicz, Michael W.
Wi, Soora
Qian, Yinge
Walsh, Eileen M.
Armstrong, Mary Anne
Croen, Lisa A.
TI Prevalence and Neonatal Factors Associated with Autism Spectrum
Disorders in Preterm Infants
SO JOURNAL OF PEDIATRICS
LA English
DT Article
ID LOW-BIRTH-WEIGHT; RISK-FACTORS; GESTATIONAL-AGE; NEURODEVELOPMENTAL
OUTCOMES; INTRAVENTRICULAR HEMORRHAGE; PSYCHIATRIC-DISORDERS; EXTREME
PREMATURITY; SCHOOL-AGE; CHILDREN; POPULATION
AB Objectives To determine the prevalence of autism spectrum disorders (ASD) across gestational age, examine the risk of ASD by gestational age controlling for other risk factors, and identify potential risk factors in the neonatal intensive care unit.
Study design A retrospective cohort of infants born at >= 24 weeks between January 1, 2000, and December 31, 2007 at 11 Kaiser Permanente Northern California hospitals (n = 195 021). ASD cases were defined by a diagnosis made at a Kaiser Permanente ASD evaluation center, by a clinical specialist, or by a pediatrician. Cox proportional hazards regression models were used to evaluate the association between gestational age and ASD as well as potential risk factors in the neonatal intensive care unit and ASD.
Results The prevalence of ASD in infants <37 weeks was 1.78% compared with 1.22% in infants born >= 37 weeks (P < .001). Compared with term infants, infants born at 24-26 weeks had an adjusted hazard ratio (HR) for a diagnosis of ASD of 2.7 (95% CI 1.5-5.0). Infants born at 27-33 weeks (adjusted HR 1.4, 95% CI 1.1-1.8) and 34-36 weeks (adjusted HR 1.3,95% CI 1.1-1.4) were also at increased risk. High frequency ventilation and intracranial hemorrhage were associated with ASD in infants < 34 weeks.
Conclusions ASD was similar to 3 times more prevalent in infants <27 weeks compared with term infants. Each week of shorter gestation was associated with an increased risk of ASD. High frequency ventilation and intracranial hemorrhage were associated with ASD among infants <34 weeks.
C1 [Kuzniewicz, Michael W.; Wi, Soora; Qian, Yinge; Walsh, Eileen M.; Armstrong, Mary Anne; Croen, Lisa A.] Kaiser Permanente No Calif, Div Res, Oakland, CA USA.
[Kuzniewicz, Michael W.] Univ Calif San Francisco, Dept Pediat, Div Neonatol, San Francisco, CA USA.
RP Kuzniewicz, MW (reprint author), Kaiser Permanente No Calif, Div Res, Oakland, CA USA.
FU Kaiser Permanente Northern California Community Benefit Program
FX Supported by a grant from the Kaiser Permanente Northern California
Community Benefit Program. The authors declare no conflicts of interest.
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NR 45
TC 9
Z9 9
PU MOSBY-ELSEVIER
PI NEW YORK
PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0022-3476
EI 1097-6833
J9 J PEDIATR-US
JI J. Pediatr.
PD JAN
PY 2014
VL 164
IS 1
BP 20
EP 25
DI 10.1016/j.jpeds.2013.09.021
PG 6
WC Pediatrics
SC Pediatrics
GA 276FU
UT WOS:000328734700006
PM 24161222
ER
PT J
AU Wong, HS
Huertas-Ceballos, A
Cowan, FM
Modi, N
AF Wong, Hilary S.
Huertas-Ceballos, Angela
Cowan, Frances M.
Modi, Neena
CA Med Neonates Investigator Grp
TI Evaluation of Early Childhood Social-Communication Difficulties in
Children Born Preterm Using the Quantitative Checklist for Autism in
Toddlers
SO JOURNAL OF PEDIATRICS
LA English
DT Article
ID NEONATAL RISK-FACTORS; SENSORY MODULATION; SPECTRUM DISORDERS; INFANTS;
AGE; PARTICIPATION; METAANALYSIS; PREVALENCE
AB Objectives To characterize early childhood social-communication skills and autistic traits in children born very preterm using the Quantitative Checklist for Autism in Toddlers (Q-CHAT) and explore neonatal and sociodemographic factors associated with Q-CHAT scores.
Study design Parents of children born before 30 weeks gestation and enrolled in a study evaluating routinely collected neurodevelopmental data between the post-menstrual ages of 20 and 28 months were invited to complete the Q-CHAT questionnaire. Children with severe neurosensory disabilities and cerebral palsy were excluded. Participants received neurodevelopmental assessments using the Bayley Scales of Infant and Toddler Development, 3rd edition (Bayley-III). Q-CHAT scores of this preterm cohort were compared with published general population scores. The association between Bayley-III cognitive and language scores and neonatal and sociodemographic factors with Q-CHAT scores were examined.
Results Q-CHAT questionnaires were completed from 141 participants. At a mean post-menstrual age of 24 months, the Q-CHAT scores of the preterm cohort (mean 33.7, SD 8.3) were significantly higher than published general population scores (mean 26.7; SD 7.8), indicating greater social-communication difficulty and autistic behavior. Preterm children received higher scores, particularly in the categories of restricted, repetitive, stereotyped behavior, communication, and sensory abnormalities. Lower Bayley-III language scores and non-white ethnicity were associated with higher Q-CHAT scores.
Conclusions Preterm children display greater social-communication difficulty and autistic behavior than the general population in early childhood as assessed by the Q-CHAT. The implications for longer-term outcome will be important to assess.
C1 [Wong, Hilary S.; Cowan, Frances M.; Modi, Neena] Univ London Imperial Coll Sci Technol & Med, Chelsea & Westminster Hosp, Dept Med, Sect Neonatal Med, London, England.
[Huertas-Ceballos, Angela] Univ Coll London Hosp NHS Fdn Trust, Neonatal Serv, London, England.
RP Wong, HS (reprint author), Univ London Imperial Coll Sci Technol & Med, Chelsea & Westminster Hosp, Dept Med, Sect Neonatal Med, London, England.
FU National Institute for Health Research (NIHR) [RP-PG-0707-10010];
Imperial College London
FX Funded by the National Institute for Health Research (NIHR) (Program
grant for Applied Research RP-PG-0707-10010), and sponsored by Imperial
College London. The views expressed are those of the authors and not
necessarily those of the National Health Service, the NIHR, or the
Department of Health. The authors declare no conflicts of interest.
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NR 27
TC 1
Z9 2
PU MOSBY-ELSEVIER
PI NEW YORK
PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0022-3476
EI 1097-6833
J9 J PEDIATR-US
JI J. Pediatr.
PD JAN
PY 2014
VL 164
IS 1
BP 26
EP +
DI 10.1016/j.jpeds.2013.07.013
PG 9
WC Pediatrics
SC Pediatrics
GA 276FU
UT WOS:000328734700007
PM 23972644
ER
PT J
AU Wong, HS
AF Wong, Hilary S.
TI Evaluation of Early Childhood Social-Communication Difficulties in
Children Born Preterm Using the Quantitative Checklist for Autism in
Toddlers (vol 164, pg 26, 2014)
SO JOURNAL OF PEDIATRICS
LA English
DT Correction
CR WONG, 2014, J PEDIAT, V164, P26
NR 1
TC 0
Z9 0
PU MOSBY-ELSEVIER
PI NEW YORK
PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0022-3476
EI 1097-6833
J9 J PEDIATR-US
JI J. Pediatr.
PD JAN
PY 2014
VL 164
IS 1
BP 221
EP 221
PG 1
WC Pediatrics
SC Pediatrics
GA 276FU
UT WOS:000328734700056
ER
PT J
AU Schriber, RA
Robins, RW
Solomon, M
AF Schriber, Roberta A.
Robins, Richard W.
Solomon, Marjorie
TI Personality and Self-Insight in Individuals With Autism Spectrum
Disorder
SO JOURNAL OF PERSONALITY AND SOCIAL PSYCHOLOGY
LA English
DT Article
DE autism; psychopathology; personality traits; personality judgment;
self-knowledge
ID PERVASIVE DEVELOPMENTAL DISORDERS; CROSS-CULTURAL DIFFERENCES;
HIGH-FUNCTIONING CHILDREN; STATES-OF-AMERICA; ASPERGER-SYNDROME;
5-FACTOR MODEL; COGNITIVE CONTROL; CONDUCT DISORDER; JOINT ATTENTION;
SOCIAL-SKILLS
AB Autism spectrum disorder (ASD) involves widespread difficulties in social interaction, communication, and behavioral flexibility. Consequently, individuals with ASD are believed to exhibit a number of unique personality tendencies, including a lack of insight into those tendencies. However, surprisingly little research has examined these issues. Study 1 compared self-reports of Big Five personality traits in adults with ASD (n = 37) to those of typically developing (TD) adults (n = 42). Study 2 examined whether any observed personality differences replicated in children/adolescents with ASD (n = 50) and TD controls (n = 50) according to self-and parent reports of personality. Study 2 also assessed level of self-insight in individuals with ASD relative to TD individuals by examining the degree to which self-reports converged with parent reports in terms of self-other agreement and self-enhancement (vs. self-diminishment) biases. Individuals with ASD were more Neurotic and less Extraverted, Agreeable, Conscientious, and Open to Experience. These personality differences replicated for (a) children, adolescents, and adults; (b) self-and parent reports; and (c) males and females. However, personality traits were far from perfect predictors of ASD vs. TD group membership, did not predict within-group variability in ASD symptom severity, and had differential links to maladjustment in the ASD and TD groups, suggesting that ASD represents more than just an extreme standing on trait dimensions. Finally, individuals with ASD had a tendency to self-enhance and TD individuals, to self-diminish, but both groups showed comparable self-other agreement. Thus, individuals with ASD exhibit distinct personalities relative to TD individuals but may have a similar level of insight into them.
C1 [Schriber, Roberta A.; Robins, Richard W.] Univ Calif Davis, Dept Psychol, Davis, CA 95616 USA.
[Solomon, Marjorie] Univ Calif Davis, Sch Med, Dept Psychiat & Behav Sci, Davis, CA 95616 USA.
[Solomon, Marjorie] Univ Calif Davis, Imaging Res Ctr, Davis, CA 95616 USA.
[Solomon, Marjorie] Univ Calif Davis, MIND Inst, Davis, CA 95616 USA.
RP Schriber, RA (reprint author), Univ Calif Davis, Dept Psychol, 1 Shields Ave, Davis, CA 95616 USA.
EM raschriber@ucdavis.edu
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NR 131
TC 1
Z9 1
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0022-3514
EI 1939-1315
J9 J PERS SOC PSYCHOL
JI J. Pers. Soc. Psychol.
PD JAN
PY 2014
VL 106
IS 1
BP 112
EP 130
DI 10.1037/a0034950
PG 19
WC Psychology, Social
SC Psychology
GA 281SF
UT WOS:000329120600007
PM 24377361
ER
PT J
AU Bashir, S
Halepoto, DM
Al-Ayadhi, L
AF Bashir, Shahid
Halepoto, Dost Muhammad
Al-Ayadhi, Laila
TI Serum Level of Desert Hedgehog Protein in Autism Spectrum Disorder:
Preliminary Results
SO MEDICAL PRINCIPLES AND PRACTICE
LA English
DT Article
DE Hedgehog protein; Desert hedgehog; Autism spectrum disorder
ID SONIC HEDGEHOG; NEUROTROPHIC FACTOR; DISEASE; GENE
AB Objective: To investigate the role of desert hedgehog (Dhh) in a neurodevelopmental disorder known as autism. Subjects and Methods: This study was conducted at the Autism Research and Treatment Center, King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia from October 2011 to May 2012. The serum levels of the Dhh protein in 57 patients recently diagnosed with autism and 37 age-matched healthy children were measured using ELISA. The Childhood Autism Rating Scale (CARS) was used for the assessment of autistic severity. Results: The mean serum level of Dhh in patients with autism (1.38 +/- 0.50 ng/ml) was significantly lower (p = 0.0003) than that of normal controls (1.73 +/- 0.37 ng/ml). There was no significant relationship between the serum level of Dhh and the CARS score (p = 0.28), age (p = 0.51) or gender (p = 0.76). Conclusions: The Dhh serum level of patients with autism was lower than that of controls, probably indicating that the serum level of Dhh might be implicated in the physiology of autism. However, this finding should be treated with caution until further investigations are performed with larger populations. (C) 2013 S. Karger AG, Basel
C1 [Bashir, Shahid] Harvard Univ, Beth Israel Deaconess Med Ctr, Berenson Allen Ctr Noninvas Brain Stimulat, Div Cognit Neurol,Dept Neurol,Med Sch, Boston, MA 02215 USA.
[Bashir, Shahid; Halepoto, Dost Muhammad; Al-Ayadhi, Laila] King Saud Univ, KSU Autism Res & Treatment Ctr, Dept Physiol, Fac Med, Riyadh 11461, Saudi Arabia.
RP Bashir, S (reprint author), King Saud Univ, KSU Autism Res & Treatment Ctr, Dept Physiol, POB 2925, Riyadh 11461, Saudi Arabia.
EM sbashir10@gmail.com
RI Bashir, Shahid/E-7212-2014
FU King Abdulaziz City for Science and Technology; National Plane of
Science and Technology Health Research program; Deanship of Scientific
Research from King Saud University, Saudi Arabia [RGP-VPP-216]
FX Work on this study was supported by grants from the King Abdulaziz City
for Science and Technology, the National Plane of Science and Technology
Health Research program, and the Deanship of Scientific Research grant
(RGP-VPP-216) from King Saud University, Saudi Arabia.
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NR 13
TC 0
Z9 0
PU KARGER
PI BASEL
PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
SN 1011-7571
EI 1423-0151
J9 MED PRIN PRACT
JI Med. Princ. Pract.
PY 2014
VL 23
IS 1
BP 14
EP 17
DI 10.1159/000354295
PG 4
WC Medicine, General & Internal
SC General & Internal Medicine
GA 280VB
UT WOS:000329057800003
PM 24009062
ER
PT J
AU Mills, GJ
AF Mills, Gregory J.
TI Dialogue in joint activity: Complementarity, convergence and
conventionalization
SO NEW IDEAS IN PSYCHOLOGY
LA English
DT Article
DE Dialogue; Grounding; Alignment; (Mis)communication; Coordination;
Sequentiality
ID COMMUNICATION-SYSTEMS; CONVERSATION; COORDINATION; INTERSUBJECTIVITY;
PROGRESSIVITY; EMERGENCE; SPEAKING; AUTISM; DAMAGE; MINDS
AB Dialogue is tightly interwoven within everyday joint activities that require moment-by-moment coordination of utterances and actions. A common account of coordination is that it is established via progressive convergence (alignment, entrainment, similarity) of interlocutors' representations and behaviour. In order to examine how coordination is established and sustained, this paper distinguishes between (1) Semantic coordination of referring expressions (2) Procedural coordination of the timing and sequencing of contributions. Drawing on data from a series of maze experiments, this paper shows how both kinds of coordination result in the rapid development of highly elliptical, systematized and normative conventions. Focussing on how these conventions are established, this paper shows how interlocutors exploit partial repetition as an interactive resource, resulting in interlocutors' turns becoming progressively divergent and complementary. Further, this paper develops the claim that since repetition is best conceived as a special case of complementarity, it cannot be the general explanation of coordination. (C) 2013 Elsevier Ltd. All rights reserved.
C1 Univ Edinburgh, Edinburgh EH8 9YL, Midlothian, Scotland.
RP Mills, GJ (reprint author), Univ Edinburgh, Edinburgh EH8 9YL, Midlothian, Scotland.
EM gmills@staffmail.ed.ac.uk
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NR 75
TC 7
Z9 7
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0732-118X
EI 1873-3522
J9 NEW IDEAS PSYCHOL
JI New Ideas Psychol.
PD JAN
PY 2014
VL 32
BP 158
EP 173
DI 10.1016/j.newideapsych.2013.03.006
PG 16
WC Psychology, Multidisciplinary; Psychology, Experimental
SC Psychology
GA 280FJ
UT WOS:000329013800016
ER
PT J
AU Cheslack-Postava, K
Jokiranta, E
Suominen, A
Lehti, V
Sourander, A
Brown, AS
AF Cheslack-Postava, Keely
Jokiranta, Elina
Suominen, Auli
Lehti, Venla
Sourander, Andre
Brown, Alan S.
TI Variation by Diagnostic Subtype in Risk for Autism Spectrum Disorders
Associated with Maternal Parity among Finnish Births
SO PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
LA English
DT Article
DE parity; autism spectrum disorders; childhood autism; Asperger syndrome;
pervasive developmental disorders; birth order
ID NEONATAL FACTORS; OBSTETRIC COMPLICATIONS; GENERAL-POPULATION; PERINATAL
FACTORS; INFANTILE-AUTISM; 1ST TRIMESTER; PREGNANCY; AGE; INFECTION;
CHILDREN
AB BackgroundAssociations between maternal parity and outcomes in offspring may provide evidence for involvement of prenatal exposures. The objective of this study was to determine whether risk for autism spectrum disorders (ASD) is associated with maternal parity.
MethodsDiagnoses of childhood autism, Asperger syndrome, and pervasive developmental disorder, not otherwise specified (PDD-NOS) were examined separately and as a group. The study was conducted in the Finnish Prenatal Study of Autism, which is based in a national birth cohort. Children born in Finland in 1987-2005 and diagnosed with ASD by 2007 were identified through the Finnish Hospital Discharge Register. Four matched controls were selected for each case using the Finnish Medical Birth Register. The association between parity and each ASD was determined using conditional logistic regression and adjusted for number of children in the sibship and other potential confounders.
ResultsASDs combined showed a pattern of decreasing risk with increasing parity (odds ratio OR for fourth or greater vs. first-born children, 0.43 [95% confidence interval (CI): 0.35, 0.51]). For childhood autism, an adjusted OR of 1.51 [95% CI 1.27, 1.81] was observed for second vs. first-born children. Associations for Asperger syndrome and PDD-NOS were consistent with those for all ASDs.
ConclusionsDifferences in patterns of association between maternal parity and ASD subtypes may indicate varying contributions of specific environmental factors to risk; however, differences in diagnosis or in treatment seeking for childhood behavioural problems cannot be ruled out, particularly for higher functioning cases.
C1 [Cheslack-Postava, Keely; Brown, Alan S.] Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY 10032 USA.
[Sourander, Andre; Brown, Alan S.] Columbia Univ Coll Phys & Surg, New York State Psychiat Inst, Dept Psychiat, New York, NY 10032 USA.
[Sourander, Andre] Turku Univ Hosp, FIN-20520 Turku, Finland.
[Jokiranta, Elina; Suominen, Auli; Lehti, Venla; Sourander, Andre] Univ Turku, Dept Child Psychiat, Turku, Finland.
[Sourander, Andre] Univ Tromso, Fac Hlth Sci, RKBU, Tromso, Norway.
RP Cheslack-Postava, K (reprint author), Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, 722 West 168th St Rm 720C, New York, NY 10032 USA.
EM kc2497@columbia.edu
FU National Institutes of Health [NIEHS R01ES019004, NIMH K02 MH065422,
NIMH T32-13043]; Jane & Aatos Erkko Foundation; Finnish Epilepsy Society
FX This study was funded by the National Institutes of Health [NIEHS
R01ES019004 (A. S. B.), NIMH K02 MH065422 (A. S. B.), and NIMH T32-13043
(K. C. P.)], the Jane & Aatos Erkko Foundation (E.J.), and the Finnish
Epilepsy Society (E.J.). The authors have no conflicts of interest to
declare.
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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 0269-5022
EI 1365-3016
J9 PAEDIATR PERINAT EP
JI Paediatr. Perinat. Epidemiol.
PD JAN
PY 2014
VL 28
IS 1
BP 58
EP 66
DI 10.1111/ppe.12094
PG 9
WC Public, Environmental & Occupational Health; Obstetrics & Gynecology;
Pediatrics
SC Public, Environmental & Occupational Health; Obstetrics & Gynecology;
Pediatrics
GA 264RX
UT WOS:000327899300008
PM 24313668
ER
PT J
AU Manseau, M
Case, BG
AF Manseau, Marc
Case, Brady G.
TI Racial-Ethnic Disparities in Outpatient Mental Health Visits to US
Physicians, 1993-2008
SO PSYCHIATRIC SERVICES
LA English
DT Article
ID SUBSTANCE USE DISORDERS; COMORBIDITY SURVEY REPLICATION; NATIONAL
EPIDEMIOLOGIC SURVEY; ENGLISH-LANGUAGE PROFICIENCY; IN-SERVICE
UTILIZATION; PRIMARY-CARE PATIENTS; UNITED-STATES; AFRICAN-AMERICANS;
RACIAL/ETHNIC DISPARITIES; DEPRESSION TREATMENT
AB Objective: The purpose of this study was to examine racial-ethnic differences in use of mental health treatment for a comprehensive range of specific disorders over time. Methods: Data from the National Ambulatory Medical Care Survey and the National Hospital Ambulatory Medical Care Survey were used to examine adult outpatient mental health visits to U.S. physicians from 1993 to 2008 (N=754,497). Annual visit prevalence for three racial-ethnic groups was estimated as the number of visits divided by the group's U.S. population size. Visit prevalence ratios (VPRs) were calculated as the minority group's prevalence divided by the non-Hispanic white prevalence. Analyses were stratified by diagnosis, physician type, patient characteristics, and year. Results: VPRs for any disorder were .60 (95% confidence interval [CI] =.52-.68) for non-Hispanic blacks and .58 (CI=.50-.67) for Hispanics. Non-Hispanic blacks were treated markedly less frequently than whites for obsessive-compulsive, generalized anxiety, attention-deficit hyperactivity, personality, panic, and nicotine use disorders but more frequently for psychotic disorders. Hispanics were treated far less frequently than whites for bipolar I, impulse control, autism spectrum, personality, obsessive-compulsive, and nicotine use disorders but more frequently for drug use disorders. Racial-ethnic differences in visits to psychiatrists were generally greater than for visits to nonpsychiatrists. Differences declined with increasing patient age and appear to have widened over time. Conclusions: Racial-ethnic differences in receipt of outpatient mental health treatment from U.S. physicians varied substantially by disorder, provider type, and patient age. Most differences were large and did not show improvement over time.
C1 [Manseau, Marc] Columbia Univ, Dept Psychiat, New York, NY 10027 USA.
[Case, Brady G.] Emma Pendleton Bradley Hosp, Hlth Serv Res Program, East Providence, RI USA.
[Case, Brady G.] Brown Univ, Warren Alpert Med Sch, Dept Psychiat & Human Behav, Providence, RI 02912 USA.
RP Manseau, M (reprint author), Columbia Univ, Dept Psychiat, New York, NY 10027 USA.
EM mwm2110@columbia.edu
FU American Academy of Child and Adolescent Psychiatry Eli filly Pilot
Research Award; American Psychiatric Association-AstraZeneca Young Minds
in Psychiatry Award
FX Dr. Case has received research support from the American Academy of
Child and Adolescent Psychiatry Eli filly Pilot Research Award and the
American Psychiatric Association-AstraZeneca Young Minds in Psychiatry
Award and has provided clinical consultation to Blue Cross Blue Shield
of Rhode Island and United Behavioral Health. Dr. Manseau reports no
competing interests.
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NR 78
TC 2
Z9 2
PU AMER PSYCHIATRIC PUBLISHING, INC
PI ARLINGTON
PA 1000 WILSON BOULEVARD, STE 1825, ARLINGTON, VA 22209-3901 USA
SN 1075-2730
EI 1557-9700
J9 PSYCHIAT SERV
JI Psychiatr. Serv.
PD JAN
PY 2014
VL 65
IS 1
BP 59
EP 67
DI 10.1176/appi.ps.201200528
PG 9
WC Health Policy & Services; Public, Environmental & Occupational Health;
Psychiatry
SC Health Care Sciences & Services; Public, Environmental & Occupational
Health; Psychiatry
GA 280CB
UT WOS:000329005200010
PM 24129773
ER
PT J
AU Frick, PJ
Ray, JV
Thornton, LC
Kahn, RE
AF Frick, Paul J.
Ray, James V.
Thornton, Laura C.
Kahn, Rachel E.
TI Can Callous-Unemotional Traits Enhance the Understanding, Diagnosis, and
Treatment of Serious Conduct Problems in Children and Adolescents? A
Comprehensive Review
SO PSYCHOLOGICAL BULLETIN
LA English
DT Review
DE conduct problems; callous-unemotional; diagnosis; children; adolescents
ID DISRUPTIVE BEHAVIOR DISORDERS; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
PSYCHOPATHIC PERSONALITY-TRAITS; OPPOSITIONAL DEFIANT DISORDER; PROCESS
SCREENING DEVICE; DEFICIT HYPERACTIVITY DISORDER; FACIAL EXPRESSION
RECOGNITION; RANDOMIZED CONTROLLED-TRIAL; SOCIAL-COGNITIVE-PROCESSES;
AUTISM SPECTRUM DISORDER
AB This article provides a comprehensive review of the research on the use of callous and unemotional (CU) traits for designating an important subgroup of children and adolescents with severe conduct problems. It focuses on the etiological significance of recognizing this subgroup of youths with severe conduct problems, its implications for diagnostic classification, and the treatment implications of this research. The review highlights limitations in existing research and provides directions for future research. The available research suggests that children and adolescents with severe conduct problems and elevated CU traits show distinct genetic, cognitive, emotional, biological, environmental, and personality characteristics that seem to implicate different etiological factors underlying their behavior problems relative to other youths with severe conduct problems. Recognizing these subgroups could be critical for guiding future research on the causes of severe conduct problems in children and adolescents. Further, children and adolescents with both severe conduct problems and elevated CU traits appear to be at risk for more severe and persistent antisocial outcomes, even controlling for the severity of their conduct problems, the age of onset of their conduct problems, and common comorbid problems, which supports the clinical importance of designating this group in diagnostic classification systems. Finally, although children and adolescents with both severe conduct problems and elevated CU traits tend to respond less positively to typical interventions provided in mental health and juvenile justice settings, they show positive responses to certain intensive interventions tailored to their unique emotional and cognitive characteristics.
C1 [Frick, Paul J.; Ray, James V.; Thornton, Laura C.; Kahn, Rachel E.] Univ New Orleans, Dept Psychol, New Orleans, LA 70148 USA.
RP Frick, PJ (reprint author), Univ New Orleans, Dept Psychol, 2001 Geol & Psychol Bldg, New Orleans, LA 70148 USA.
EM pfrick@uno.edu
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NR 344
TC 21
Z9 22
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0033-2909
EI 1939-1455
J9 PSYCHOL BULL
JI Psychol. Bull.
PD JAN
PY 2014
VL 140
IS 1
BP 1
EP 57
DI 10.1037/a0033076
PG 57
WC Psychology; Psychology, Multidisciplinary
SC Psychology
GA 280QB
UT WOS:000329044700001
PM 23796269
ER
PT J
AU Hoeffding, LKE
Hansen, T
Ingason, A
Doung, L
Thygesen, JH
Moller, RS
Tommerup, N
Kirov, G
Rujescu, D
Larsen, LA
Werge, T
AF Hoeffding, Louise Kristine Enggaard
Hansen, Thomas
Ingason, Andres
Doung, Linh
Thygesen, Johan H.
Moller, Rikke S.
Tommerup, Niels
Kirov, George
Rujescu, Dan
Larsen, Lars A.
Werge, Thomas
TI Sequence Analysis of 17 NRXN1 Deletions
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
LA English
DT Article
DE neurexin 1; deletion; breakpoints
ID COPY NUMBER VARIATION; AUTISM SPECTRUM DISORDER; GENOMIC ARCHITECTURE;
COMPLEX REARRANGEMENTS; INHERITED DISEASE; INVERTED REPEATS;
SCHIZOPHRENIA; DUPLICATIONS; MECHANISMS; REPAIR
AB BackgroundGenome instability plays fundamental roles in human evolution and phenotypic variation within our population. This instability leads to genomic rearrangements that are involved in a wide variety of human disorders, including congenital and neurodevelopmental disorders, and cancers. Insight into the molecular mechanisms governing such genomic rearrangements may increase our understanding of disease pathology and evolutionary processes. Here we analyse 17 carriers of non-recurrent deletions in the NRXN1 gene, which have been associated with neurodevelopmental disorders, e.g. schizophrenia, autism and epilepsies.
Methods17 non-recurrent NRXN1 deletions identified by GWA were sequenced to map the breakpoints of each. Meme ... etc. was used to identify shared patterns between the deletions and compare these were previously studies on non-recurrent deletions.
ResultsWe discovered two novel sequence motifs shared between all 17 NRXN1 deletions and a significantly higher AT nucleotide content at the breakpoints, compared to the overall nucleotide content on chromosome 2. We found different alteration of sequence at the breakpoint; small insertions and duplications giving rise to short microhomology sequences.
ConclusionsNo single mechanism seems to be implicated in the deletion events, but the results suggest that NHEJ, FoSTeS or MMBIR is implicated. The two novel sequence motifs together with a high AT content in all in NRXN1 deletions may lead to increased instability leading to a increase susceptibility to a single stranded structures. This favours potentially repaired by NHEJ mechanism of double strand breaks or may leading to replication errors. (c) 2013 Wiley Periodicals, Inc.
C1 [Hoeffding, Louise Kristine Enggaard; Hansen, Thomas; Ingason, Andres; Doung, Linh; Thygesen, Johan H.; Werge, Thomas] Copenhagen Univ Hosp, Mental Hlth Ctr Sct Hans, Res Inst Biol Psychiat, DK-4000 Roskilde, Denmark.
[Moller, Rikke S.] Danish Epilepsy Ctr, Dianalund, Denmark.
[Tommerup, Niels; Larsen, Lars A.] Univ Copenhagen, Wilhelm Johannsen Ctr Funct Genome Res, Dept Cellular & Mol Med, Copenhagen, Denmark.
[Kirov, George] Cardiff Univ, Sch Med, MRC Ctr Neuropsychiat Genet & Genom, Cardiff CF10 3AX, S Glam, Wales.
[Rujescu, Dan] Univ Munich, Dept Psychiat, Div Mol & Clin Neurobiol, D-80539 Munich, Germany.
[Rujescu, Dan] Univ Halle, Dept Psychiat, Halle, Germany.
[Werge, Thomas] Univ Copenhagen, Dept Clin Med, Copenhagen, Denmark.
RP Hoeffding, LKE (reprint author), Copenhagen Univ Hosp, Mental Hlth Ctr Sct Hans, Res Inst Biol Psychiat, Boserupvej 2, DK-4000 Roskilde, Denmark.
EM louise.k.enggaard.hoeffding@regionh.dk
RI Hansen, Thomas/O-5965-2014
OI Hansen, Thomas/0000-0001-6703-7762
FU Lundbeck Foundation [R34-A3243]; Danish National Advanced Technology
Foundation [001-2009-2]; Danish Council for Independent Research in
Medical Sciences; Danish Psychiatric Research Foundation; European Union
[LSHM-CT-2006-037761]
FX Grant sponsor: Lundbeck Foundation; Grant number: R34-A3243; Grant
sponsor: Danish National Advanced Technology Foundation; Grant number:
001-2009-2; Grant sponsor: Danish Council for Independent Research in
Medical Sciences; Grant sponsor: Danish Psychiatric Research Foundation;
Grant sponsor: European Union; Grant number: LSHM-CT-2006-037761.
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TC 1
Z9 1
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
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BP 52
EP 61
DI 10.1002/ajmg.b.32204
PG 10
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SC Genetics & Heredity; Psychiatry
GA 272IQ
UT WOS:000328454100006
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PT J
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SN 0004-8674
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PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0004-8674
EI 1440-1614
J9 AUST NZ J PSYCHIAT
JI Aust. N. Z. J. Psych.
PD JAN
PY 2014
VL 48
IS 1
SI SI
BP 92
EP 93
DI 10.1177/0004867413513343
PG 2
WC Psychiatry
SC Psychiatry
GA 276DD
UT WOS:000328727400017
PM 24293050
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BP 2
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GA 277QZ
UT WOS:000328835700001
PM 24505609
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LA English
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VISUAL IMPAIRMENTS; SPECTRUM DISORDER; INFANTILE-AUTISM; SOCIAL
COGNITION; INTERESTS; MIND
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NR 65
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 JAN
PY 2014
VL 18
IS 1
SI SI
BP 6
EP 16
DI 10.1177/1362361313497538
PG 11
WC Psychology, Developmental
SC Psychology
GA 277QZ
UT WOS:000328835700002
PM 24151128
ER
PT J
AU Brunsdon, VEA
Happe, F
AF Brunsdon, Victoria E. A.
Happe, Francesca
TI Exploring the 'fractionation' of autism at the cognitive level
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; central coherence; cognitive theories;
executive function; fractionable triad; Theory of Mind
ID WEAK CENTRAL COHERENCE; SPECTRUM DISORDERS; EXECUTIVE FUNCTION;
REPETITIVE BEHAVIORS; COMMUNICATION DEFICITS; YOUNG-PEOPLE;
DEVELOPMENTAL DISORDERS; GENERAL-POPULATION; ASPERGER SYNDROME; CHILDREN
AB Autism spectrum disorders are defined by difficulties across a range of areas: social and communication difficulties and restricted and repetitive behaviours and interests. It has been suggested that this triad of symptoms cannot be explained by a single cause at the genetic, neural or cognitive level. This article reviews the evidence for a fractionable' autism triad at the cognitive level, highlighting questions for future research.
C1 [Brunsdon, Victoria E. A.; Happe, Francesca] Kings Coll London, London SE5 8AF, England.
RP Brunsdon, VEA (reprint author), Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, PO 80,Denmark Hill, London SE5 8AF, England.
EM victoria.brunsdon@kcl.ac.uk
RI Brunsdon, Victoria/F-6207-2011
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NR 94
TC 9
Z9 9
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 JAN
PY 2014
VL 18
IS 1
SI SI
BP 17
EP 30
DI 10.1177/1362361313499456
PG 14
WC Psychology, Developmental
SC Psychology
GA 277QZ
UT WOS:000328835700003
PM 24126870
ER
PT J
AU Frazier, TW
Ratliff, KR
Gruber, C
Zhang, Y
Law, PA
Constantino, JN
AF Frazier, Thomas W.
Ratliff, Kristin R.
Gruber, Chris
Zhang, Yi
Law, Paul A.
Constantino, John N.
TI Confirmatory factor analytic structure and measurement invariance of
quantitative autistic traits measured by the Social Responsiveness
Scale-2
SO AUTISM
LA English
DT Article
DE Asperger syndrome; autism; factor structure; pervasive developmental
disorder
ID OF-FIT INDEXES; GENERAL-POPULATION; SPECTRUM DISORDERS; IMPAIRMENT;
TWIN; VALIDATION; COMPONENTS; CHILDREN; EXTREMES; BEHAVIOR
AB Understanding the factor structure of autistic symptomatology is critical to the discovery and interpretation of causal mechanisms in autism spectrum disorder. We applied confirmatory factor analysis and assessment of measurement invariance to a large (N = 9635) accumulated collection of reports on quantitative autistic traits using the Social Responsiveness Scale, representing a broad diversity of age, severity, and reporter type. A two-factor structure (corresponding to social communication impairment and restricted, repetitive behavior) as elaborated in the updated Diagnostic and Statistical Manual of Mental Disorders (5th ed.; DSM-5) criteria for autism spectrum disorder exhibited acceptable model fit in confirmatory factor analysis. Measurement invariance was appreciable across age, sex, and reporter (self vs other), but somewhat less apparent between clinical and nonclinical populations in this sample comprised of both familial and sporadic autism spectrum disorders. The statistical power afforded by this large sample allowed relative differentiation of three factors among items encompassing social communication impairment (emotion recognition, social avoidance, and interpersonal relatedness) and two factors among items encompassing restricted, repetitive behavior (insistence on sameness and repetitive mannerisms). Cross-trait correlations remained extremely high, that is, on the order of 0.66-0.92. These data clarify domains of statistically significant factoral separation that may relate to partiallybut not completelyoverlapping biological mechanisms, contributing to variation in human social competency. Given such robust intercorrelations among symptom domains, understanding their co-emergence remains a high priority in conceptualizing common neural mechanisms underlying autistic syndromes.
C1 [Frazier, Thomas W.] Cleveland Clin, Cleveland, OH USA.
[Ratliff, Kristin R.; Gruber, Chris] Western Psychol Serv, Eagan, MN USA.
[Zhang, Yi; Constantino, John N.] Washington Univ Sch Med St Louis, St Louis, MO 63110 USA.
[Law, Paul A.] Johns Hopkins Univ Sch Med, Baltimore, MD USA.
RP Constantino, JN (reprint author), Washington Univ Sch Med St Louis, 660 South Euclid Ave,Campus Box 8134, St Louis, MO 63110 USA.
EM Constantino@wustl.edu
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NR 55
TC 6
Z9 6
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 JAN
PY 2014
VL 18
IS 1
SI SI
BP 31
EP 44
DI 10.1177/1362361313500382
PG 14
WC Psychology, Developmental
SC Psychology
GA 277QZ
UT WOS:000328835700004
PM 24019124
ER
PT J
AU Mandy, W
Charman, T
Puura, K
Skuse, D
AF Mandy, William
Charman, Tony
Puura, Kaija
Skuse, David
TI Investigating the cross-cultural validity of DSM-5 autism spectrum
disorder: Evidence from Finnish and UK samples
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; confirmatory factor analysis; cross-cultural;
Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition;
International Classification of Diseases-11th Edition
ID DIAGNOSTIC INTERVIEW 3DI; STATES-OF-AMERICA; QUOTIENT AQ; PSYCHOMETRIC
PROPERTIES; MEASUREMENT INVARIANCE; UNITED-KINGDOM; SOUTH-KOREA; FIT
INDEXES; CHILDREN; VALIDATION
AB The recent Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5) reformulation of autism spectrum disorder has received empirical support from North American and UK samples. Autism spectrum disorder is an increasingly global diagnosis, and research is needed to discover how well it generalises beyond North America and the United Kingdom. We tested the applicability of the DSM-5 model to a sample of Finnish young people with autism spectrum disorder (n = 130) or the broader autism phenotype (n = 110). Confirmatory factor analysis tested the DSM-5 model in Finland and compared the fit of this model between Finnish and UK participants (autism spectrum disorder, n = 488; broader autism phenotype, n = 220). In both countries, autistic symptoms were measured using the Developmental, Diagnostic and Dimensional Interview. Replicating findings from English-speaking samples, the DSM-5 model fitted well in Finnish autism spectrum disorder participants, outperforming a Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition (DSM-IV) model. The DSM-5 model fitted equally well in Finnish and UK autism spectrum disorder samples. Among broader autism phenotype participants, this model fitted well in the United Kingdom but poorly in Finland, suggesting that cross-cultural variability may be greatest for milder autistic characteristics. We encourage researchers with data from other cultures to emulate our methodological approach, to map any cultural variability in the manifestation of autism spectrum disorder and the broader autism phenotype. This would be especially valuable given the ongoing revision of the International Classification of Diseases-11th Edition, the most global of the diagnostic manuals.
C1 [Mandy, William; Skuse, David] UCL, London WC1E 6BT, England.
[Charman, Tony] Kings Coll London, London WC2R 2LS, England.
[Puura, Kaija] Tampere Univ Hosp, Tampere, Finland.
RP Mandy, W (reprint author), UCL, Res Dept Clin Hlth & Educ Psychol, Gower St, London WC1E 6BT, England.
EM w.mandy@ucl.ac.uk
RI Charman, Tony/A-2085-2014
OI Charman, Tony/0000-0003-1993-6549
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World Health Organization (WHO), 2013, INT CLASS DIS ICD 11
NR 41
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 JAN
PY 2014
VL 18
IS 1
SI SI
BP 45
EP 54
DI 10.1177/1362361313508026
PG 10
WC Psychology, Developmental
SC Psychology
GA 277QZ
UT WOS:000328835700005
PM 24113342
ER
PT J
AU Rutter, M
AF Rutter, Michael
TI Addressing the issue of fractionation in autism spectrum disorder: A
commentary on Brunsdon and Happe, Frazier et al., Hobson and Mandy et
al.
SO AUTISM
LA English
DT Editorial Material
ID CHILDREN
C1 Kings Coll London, MRC Social Genet & Dev Psychiat Ctr, Inst Psychiat, London WC2R 2LS, England.
RP Rutter, M (reprint author), Kings Coll London, MRC Social Genet & Dev Psychiat Ctr, Inst Psychiat, London WC2R 2LS, England.
CR American Psychiatric Association APA, 2013, DIAGN STAT MAN MENT, V5th
Blankenship K, 2011, AUTISM SPECTRUM DISO, P1196
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Karmiloff-Smith A, 2012, P NATL ACAD SCI USA, V109, P17261, DOI 10.1073/pnas.1121087109
Pellicano E, 2013, AUTISM RES, V6, P258, DOI 10.1002/aur.1286
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Rutter M, HDB AUTISM PERVASIVE
Rutter M, 1999, J CHILD PSYCHOL PSYC, V40, P537, DOI 10.1017/S0021963099003935
Schumann CM, 2011, AUTISM SPECTRUM DISO, P539
NR 14
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 JAN
PY 2014
VL 18
IS 1
SI SI
BP 55
EP 57
DI 10.1177/1362361313513522
PG 3
WC Psychology, Developmental
SC Psychology
GA 277QZ
UT WOS:000328835700006
PM 24363166
ER
PT J
AU Weisberg, J
Milleville, SC
Kenworthy, L
Wallace, GL
Gotts, SJ
Beauchamp, MS
Martin, A
AF Weisberg, Jill
Milleville, Shawn C.
Kenworthy, Lauren
Wallace, Gregory L.
Gotts, Stephen J.
Beauchamp, Michael S.
Martin, Alex
TI Social Perception in Autism Spectrum Disorders: Impaired Category
Selectivity for Dynamic but not Static Images in Ventral Temporal Cortex
SO CEREBRAL CORTEX
LA English
DT Article
DE Asperger's syndrome; autism; fusiform gyrus; MRI/fMRI; social cognition
ID POSTERIOR PARIETAL CORTEX; EPISODIC MEMORY RETRIEVAL; VISUAL-SPATIAL
ATTENTION; LATERAL OCCIPITAL CORTEX; BOTTOM-UP ATTENTION; EVENT-RELATED
FMRI; RECOGNITION MEMORY; RETINOTOPIC ORGANIZATION; INTRAPARIETAL
SULCUS; WORKING-MEMORY
AB Studies of autism spectrum disorders (ASDs) reveal dysfunction in the neural systems mediating object processing (particularly faces) and social cognition, but few investigations have systematically assessed the specificity of the dysfunction. We compared cortical responses in typically developing adolescents and those with ASD to stimuli from distinct conceptual domains known to elicit category-related activity in separate neural systems. In Experiment 1, subjects made category decisions to photographs, videos, and point-light displays of people and tools. In Experiment 2, subjects interpreted displays of simple, geometric shapes in motion depicting social or mechanical interactions. In both experiments, we found a selective deficit in the ASD subjects for dynamic social stimuli (videos and point-light displays of people, moving geometric shapes), but not static images, in the functionally localized lateral region of the right fusiform gyrus, including the fusiform face area. In contrast, no group differences were found in response to either static images or dynamic stimuli in other brain regions associated with face and social processing (e. g. posterior superior temporal sulcus, amygdala), suggesting disordered connectivity between these regions and the fusiform gyrus in ASD. This possibility was confirmed by functional connectivity analysis.
C1 [Weisberg, Jill; Milleville, Shawn C.; Kenworthy, Lauren; Wallace, Gregory L.; Gotts, Stephen J.; Martin, Alex] NIMH, Lab Brain & Cognit, Bethesda, MD 20850 USA.
[Kenworthy, Lauren] Childrens Natl Med Ctr, Ctr Autism Spectrum Disorders, Rockville, MD 20850 USA.
[Beauchamp, Michael S.] Univ Texas Med Sch Houston, Dept Neurobiol & Anat, Houston, TX 77030 USA.
RP Weisberg, J (reprint author), San Diego State Univ Res Fdn, Lab Language & Cognit Neurosci, 6495 Alvarado Rd,Suite 200, San Diego, CA 92120 USA.
EM jweisberg@projects.sdsu.edu
FU National Institute of Mental Health [5R01-MH080309]; NSF [BCS 0920865]
FX This work was supported by a grant from the National Institute of Mental
Health (5R01-MH080309) and support for KSW from the NSF (BCS 0920865).
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NR 101
TC 5
Z9 5
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 JAN
PY 2014
VL 24
IS 1
BP 37
EP 66
DI 10.1093/cercor/bhs276
PG 30
WC Neurosciences
SC Neurosciences & Neurology
GA 271EE
UT WOS:000328373300003
PM 23019245
ER
PT J
AU Yang, JM
Zhang, J
Yu, YQ
Duan, SM
Li, XM
AF Yang, Jian-Ming
Zhang, Jing
Yu, Yan-Qin
Duan, Shumin
Li, Xiao-Ming
TI Postnatal Development of 2 Microcircuits Involving Fast-Spiking
Interneurons in the Mouse Prefrontal Cortex
SO CEREBRAL CORTEX
LA English
DT Article
DE electrical synapses; networks; paired recording; parvalbumin;
synaptogenesis
ID ELECTRICAL SYNAPSES; GABAERGIC INTERNEURONS; CORTICAL INTERNEURONS;
CEREBRAL-CORTEX; CONNEXIN EXPRESSION; GAMMA-OSCILLATIONS; INHIBITORY
NEURONS; IN-VIVO; NEOCORTEX; NETWORKS
AB Disturbed development of the parvalbumin-positive fast-spiking (FS) interneurons in the prefrontal cortex (PFC) is closely associated with many neuropsychiatric disorders such as schizophrenia and autism. FS interneurons form at least 2 microcircuits in the PFC: one with pyramidal neurons (FS-PN) through chemical synapses; the other with other FS interneurons (FS-FS) via chemical and electrical synapses. It is currently unknown when and how these circuits are established in the PFC during early development. Here, we used G42 mice, in which FS interneurons are specifically labeled with enhanced green fluorescent protein, to make dual whole-cell recordings from postnatal day 3 (P3) to P30 to study the development of FS interneuronal networks in the PFC. We found that FS interneurons were poorly developed in terms of the membrane and network properties during the first postnatal week, both of which exhibited an abrupt maturation during the second postnatal week. The development of FS interneuronal microcircuits lasted throughout early adulthood. Thus, our data suggest that FS interneurons might not be involved in generating cortical oscillatory activity and. oscillations during the first postnatal week. Our data also indicate an independent development of electrical and chemical synapses among FS interneuronal networks during the early period.
C1 [Yang, Jian-Ming; Zhang, Jing; Yu, Yan-Qin; Duan, Shumin; Li, Xiao-Ming] Zhejiang Univ, Sch Med, Dept Neurobiol,Zhejiang Prov Key Lab Neurobiol, Key Lab Med Neurobiol,Minist Hlth China, Hangzhou 310003, Zhejiang, Peoples R China.
RP Li, XM (reprint author), Zhejiang Univ, Sch Med, Dept Neurobiol,Zhejiang Prov Key Lab Neurobiol, Key Lab Med Neurobiol,Minist Hlth China, Hangzhou 310003, Zhejiang, Peoples R China.
EM lixm@zju.edu.cn
FU National Natural Science Foundation of China [91132714, 30970916,
31070926, 81221003]; Major Research Program from the State Ministry of
Science and Technology of China [2010CB912004]; Zhejiang Provincial
Natural Science Foundation of China [Z2090127]; Zhejiang Provincial
Qianjiang Talent Plan [2010R10057]; PCSIRT; Fundamental Research Funds
for the Central Universities [2011XZZX002]; Zhejiang Province Key
Technology Innovation Team [2010R50049]
FX This work was supported by grants from the National Natural Science
Foundation of China (91132714, 30970916, 31070926 and 81221003), the
Major Research Program from the State Ministry of Science and Technology
of China (2010CB912004), the Zhejiang Provincial Natural Science
Foundation of China (Z2090127), the Zhejiang Provincial Qianjiang Talent
Plan (2010R10057), PCSIRT, the Fundamental Research Funds for the
Central Universities (2011XZZX002) and the Zhejiang Province Key
Technology Innovation Team (2010R50049).
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NR 48
TC 5
Z9 5
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 JAN
PY 2014
VL 24
IS 1
BP 98
EP 109
DI 10.1093/cercor/bhs291
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA 271EE
UT WOS:000328373300006
PM 23042741
ER
PT J
AU Tanhauserova, V
Kuricova, K
Pacal, L
Bartakova, V
Rehorova, J
Svojanovsky, J
Olsovsky, J
Belobradkova, J
Kankova, K
AF Tanhaeuserova, Veronika
Kuricova, Katarina
Pacal, Lukas
Bartakova, Vendula
Rehorova, Jitka
Svojanovsky, Jan
Olsovsky, Jindrich
Belobradkova, Jana
Kankova, Katerina
TI Genetic variability in enzymes of metabolic pathways conferring
protection against non-enzymatic glycation versus diabetes-related
morbidity and mortality
SO CLINICAL CHEMISTRY AND LABORATORY MEDICINE
LA English
DT Article
DE advanced glycation end-products; diabetic nephropathy; fructosamine
3-kinase; glyoxalase; pentose phosphate pathway; transketolase
ID GLYOXALASE-I; FRUCTOSAMINE 3-KINASE; NEPHROPATHY; TRANSKETOLASE;
POLYMORPHISMS; SUSCEPTIBILITY; COMPLICATIONS; RETINOPATHY; DISEASE;
AUTISM
AB Background: We hypothesized that genetic variability in genes encoding enzymes metabolizing glycolytic intermediates produced in excess under hyperglycemic conditions [i.e., transketolase (TKT), transaldolase, TKT-like protein 1, fructosamine 3-kinase (FN3K), glyoxalase 1 and glucose-6-phosphate dehydrogenase] could influence progression of diabetic nephropathy (DN) and diabetes-related morbidity and mortality.
Methods: A total of 19 single nucleotide polymorphisms (SNPs) in six candidate genes were studied in 314 type 2 diabetic subjects with variable stage of kidney disease (normo- and microalbuminuria, proteinuria, end-stage renal disease). SNP selection criteria were based on known functional effect and gene coverage. SNPs were detected using polymerase chain reaction based methods. Subjects were followed up for median of 38 months. Time-to-event analysis considered three end-points: 1) DN progression by at least one stage; 2) major cardiovascular event; and 3) all-cause mortality.
Results: We found combined effect of TKT SNP rs11130362 and FN3K SNP rs1056534 on DN progression (p<0.01). Additionally, TKT rs3736156 alone and also in combination with the previous two SNPs exhibited significant effect on incidence of major cardiovascular events (p<0.01 and p=0.01, respectively).
Conclusions: Genetic variability in rate-limiting enzymes of pathways proposed to confer hypothetical protection against hyperglycemia might act as an important determinant of hyperglycemia toxicity in long-standing diabetes.
C1 [Tanhaeuserova, Veronika] Masaryk Univ, Dept Pathophysiol, Fac Med, Brno 62500, Czech Republic.
[Kuricova, Katarina; Pacal, Lukas; Bartakova, Vendula; Kankova, Katerina] Masaryk Univ, Fac Med, Dept Pathophysiol, Brno 62500, Czech Republic.
[Rehorova, Jitka; Belobradkova, Jana] Univ Hosp Brno, Dept Internal Med, Brno, Czech Republic.
[Svojanovsky, Jan; Olsovsky, Jindrich] St Annes Univ Hosp, Dept Internal Med 2, Brno, Czech Republic.
RP Tanhauserova, V (reprint author), Masaryk Univ, Dept Pathophysiol, Fac Med, Kamenice 5, Brno 62500, Czech Republic.
EM veronika.tan@mail.muni.cz
RI Pacal, Lukas/G-8060-2012
OI Pacal, Lukas/0000-0003-1118-7424
FU Ministry of Health of Czech Republic [NT13198]
FX Study was supported by the grant NT13198 from the Ministry of Health of
Czech Republic.
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Wu JC, 2011, J ENDOCRINOL INVEST, V34, pE343, DOI 10.3275/7856
NR 16
TC 4
Z9 4
PU WALTER DE GRUYTER GMBH
PI BERLIN
PA GENTHINER STRASSE 13, D-10785 BERLIN, GERMANY
SN 1434-6621
EI 1437-4331
J9 CLIN CHEM LAB MED
JI Clin. Chem. Lab. Med.
PD JAN
PY 2014
VL 52
IS 1
SI SI
BP 77
EP 83
DI 10.1515/cclm-2012-0833
PG 7
WC Medical Laboratory Technology
SC Medical Laboratory Technology
GA 275OV
UT WOS:000328687600011
PM 23492569
ER
PT J
AU Pisano, S
Milone, A
Gemo, I
Masi, G
AF Pisano, Simone
Milone, Annarita
Gemo, Ilaria
Masi, Gabriele
TI High-functioning autism spectrum disorder associated with CHARGE
syndrome: a case report
SO CLINICAL DYSMORPHOLOGY
LA English
DT Article
C1 [Pisano, Simone; Milone, Annarita; Gemo, Ilaria; Masi, Gabriele] IRCCS Stella Maris, Sci Inst Child Neurol & Psychiat, I-56018 Pisa, Italy.
[Pisano, Simone] Univ Naples 2, Dept Mental & Phys Hlth, Naples, Italy.
[Pisano, Simone] Univ Naples 2, Prevent Med Child & Adolescent Psychiat Div, Naples, Italy.
RP Pisano, S (reprint author), IRCCS Stella Maris, Sci Inst Child Neurol & Psychiat, Via Giacinti 2, I-56018 Pisa, Italy.
EM pisano.simone@gmail.com
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NR 10
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0962-8827
EI 1473-5717
J9 CLIN DYSMORPHOL
JI Clin. Dysmorphol.
PD JAN
PY 2014
VL 23
IS 1
BP 35
EP 37
DI 10.1097/MCD.0000000000000014
PG 3
WC Genetics & Heredity
SC Genetics & Heredity
GA 270VO
UT WOS:000328347500010
PM 24172694
ER
PT J
AU Koolen, S
Vissers, CTWM
Egger, JIM
Verhoeven, L
AF Koolen, S.
Vissers, C. Th. W. M.
Egger, J. I. M.
Verhoeven, L.
TI Monitoring in language perception in high-functioning adults with autism
spectrum disorder: Evidence from event-related potentials
SO CLINICAL NEUROPHYSIOLOGY
LA English
DT Article
DE Autism; Language; Monitoring; Attention; Event-related potentials; P600
effect
ID BRAIN POTENTIALS; NEURAL MECHANISMS; PARSING ROUTINES; COGNITIVE-STYLE;
WORKING-MEMORY; COMPREHENSION; ERPS; ANOMALIES; SENTENCES; SPEECH
AB Objectives: Autism spectrum disorder (ASD) is characterized by impaired global language processing, whereas local language processing often appears intact. Recent psycholinguistic research suggests that the quality of language perception relies on monitoring, an aspect of executive control. The aim of the study was to examine monitoring in people with ASD of (a) local, orthographic violations, and (b) global, syntactic violations, when provided with single level versus dual level task instructions.
Methods: We recorded event-related potentials and compared P600 effects to the linguistic violations relative to correct words in 14 adults with ASD and 14 matched controls.
Results: In control participants, local errors elicited a monitoring response as tapped by the P600 effect in both conditions. For global errors, the P600 effect was present only at one centroposterior site in the single level condition, whereas in the dual level condition a broadly distributed effect was obtained. People with ASD, however, showed a monitoring response to local and global errors both in the single and dual level condition.
Conclusions: The main ERP finding suggests that when instructed people with ASD monitor global aspects of language already under simple circumstances, whereas people without ASD mainly do so under more complex circumstances.
Significance: Results suggest that language problems in ASD should not be studied in terms of a linguistic dysfunction as such, but in light of the use of executive resources during language comprehension. (C) 2013 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.
C1 [Koolen, S.; Egger, J. I. M.; Verhoeven, L.] Radboud Univ Nijmegen, Inst Behav Sci, NL-6500 HE Nijmegen, Netherlands.
[Vissers, C. Th. W. M.; Egger, J. I. M.] Vincent van Gogh Inst Psychiat, Ctr Excellence Neuropsychiat, NL-5803 AC Venray, Netherlands.
[Vissers, C. Th. W. M.; Egger, J. I. M.] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Ctr Cognit, NL-6500 HE Nijmegen, Netherlands.
RP Koolen, S (reprint author), Radboud Univ Nijmegen, Inst Behav Sci, POB 9104, NL-6500 HE Nijmegen, Netherlands.
EM s.koolen@pwo.ru.nl
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NR 53
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 1388-2457
EI 1872-8952
J9 CLIN NEUROPHYSIOL
JI Clin. Neurophysiol.
PD JAN
PY 2014
VL 125
IS 1
BP 108
EP 123
DI 10.1016/j.clinph.2013.06.021
PG 16
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA 272ZD
UT WOS:000328501200015
PM 23867067
ER
PT J
AU Zwaigenbaum, L
AF Zwaigenbaum, Lonnie
TI The intriguing relationship between cerebral palsy and autism
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Editorial Material
ID DISORDERS
AB This commentary is on the original article by Christensen et al. on pages of this issue.
C1 Univ Alberta, Dept Pediat, Glenrose Rehabil Hosp, Edmonton, AB, Canada.
RP Zwaigenbaum, L (reprint author), Univ Alberta, Dept Pediat, Glenrose Rehabil Hosp, Edmonton, AB, Canada.
CR Bjorgaas HM, 2012, RES DEV DISABIL, V33, P1287, DOI 10.1016/j.ridd.2012.02.024
Blumberg SJ, 2007, 652013 NAT CTR HLTH
Christensen D, 2013, DEV MED CHILD NEUROL, DOI 10.1111/dmcn.12268
Jiang YH, 2013, AM J HUM GENET, V93, P249, DOI 10.1016/j.ajhg.2013.06.012
Kirby RS, 2011, RES DEV DISABIL, V32, P462, DOI 10.1016/j.ridd.2010.12.042
Limperopoulos C, 2009, CLIN PERINATOL, V36, P791, DOI 10.1016/j.clp.2009.07.010
Pakula AT, 2009, PHYS MED REHABIL CLI, V20, P427, DOI 10.1016/j.pmr.2009.06.001
NR 7
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 JAN
PY 2014
VL 56
IS 1
BP 7
EP 8
DI 10.1111/dmcn.12274
PG 2
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 267WG
UT WOS:000328128400004
PM 24116659
ER
PT J
AU Matsuba, CA
AF Matsuba, Carey A.
TI Assessment of autism in children with visual impairment
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Editorial Material
AB This commentary is on the original article by Williams et al. on pages of this issue.
C1 [Matsuba, Carey A.] Univ British Columbia, Div Dev Pediat, BC Childrens Hosp, Vancouver, BC V5Z 1M9, Canada.
[Matsuba, Carey A.] Univ British Columbia, Sunny Hill Hlth Ctr, Vancouver, BC V5Z 1M9, Canada.
RP Matsuba, CA (reprint author), Univ British Columbia, Div Dev Pediat, BC Childrens Hosp, Vancouver, BC V5Z 1M9, Canada.
CR Baio Jon, 2012, Morbidity and Mortality Weekly Report, V61, P1
Williams ME, 2013, DEV MED CHILD NEUROL, DOI 10.1111/dmcn.12264
NR 2
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 JAN
PY 2014
VL 56
IS 1
BP 8
EP 9
DI 10.1111/dmcn.12320
PG 2
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 267WG
UT WOS:000328128400005
PM 24127826
ER
PT J
AU Rosti, RO
Sadek, AA
Vaux, KK
Gleeson, JG
AF Rosti, Rasim O.
Sadek, Abdelrahim A.
Vaux, Keith K.
Gleeson, Joseph G.
TI The genetic landscape of autism spectrum disorders
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Review
ID FRAGILE-X-SYNDROME; TUBEROUS SCLEROSIS COMPLEX; DEVELOPMENTAL DELAY;
CHROMOSOME 16P11.2; RETT-SYNDROME; MUTANT MICE; MUTATIONS;
MICRODELETIONS; DYSFUNCTION; PHENOTYPES
AB Autism spectrum disorders (ASDs) are a group of heterogeneous neurodevelopmental disorders that show impaired communication and socialization, restricted interests, and stereotypical behavioral patterns. Recent advances in molecular medicine and high throughput screenings, such as array comparative genomic hybridization (CGH) and exome and whole genome sequencing, have revealed both novel insights and new questions about the nature of this spectrum of disorders. What has emerged is a better understanding about the genetic architecture of various genetic subtypes of ASD and correlations of genetic mutations with specific autism subtypes. Based on this new information, we outline a strategy for advancing diagnosis, prognosis, and counseling for patients and families.
C1 [Rosti, Rasim O.; Vaux, Keith K.; Gleeson, Joseph G.] Univ Calif San Diego, Howard Hughes Med Inst, Dept Neurosci & Pediat, San Diego, CA 92103 USA.
[Sadek, Abdelrahim A.] Sohag Univ, Fac Med, Dept Pediat, Pediat Neurol Unit, Sohag, Egypt.
RP Gleeson, JG (reprint author), Univ Calif San Diego, 9500 Gilman Dr M-C 0665, La Jolla, CA 92093 USA.
EM jogleeson@ucsd.edu
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Zoghbi H.Y., 2012, COLD SPRING HARB PER, V4
NR 62
TC 2
Z9 2
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 JAN
PY 2014
VL 56
IS 1
BP 12
EP 18
DI 10.1111/dmcn.12278
PG 7
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 267WG
UT WOS:000328128400008
PM 24116704
ER
PT J
AU Christensen, D
Braun, KVN
Doernberg, NS
Maenner, MJ
Arneson, CL
Durkin, MS
Benedict, RE
Kirby, RS
Wingate, MS
Fitzgerald, R
Yeargin-Allsopp, M
AF Christensen, Deborah
Braun, Kim Van Naarden
Doernberg, Nancy S.
Maenner, Matthew J.
Arneson, Carrie L.
Durkin, Maureen S.
Benedict, Ruth E.
Kirby, Russell S.
Wingate, Martha S.
Fitzgerald, Robert
Yeargin-Allsopp, Marshalyn
TI Prevalence of cerebral palsy, co-occurring autism spectrum disorders,
and motor functioning - Autism and Developmental Disabilities Monitoring
Network, USA, 2008
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Article
ID UNITED-STATES; CHILDREN; CLASSIFICATION; EUROPE
AB AimThe aim of this study was to report the prevalence and characteristics of children with cerebral palsy (CP).
MethodChildren with CP (n=451) were ascertained by the Autism and Developmental Disabilities Monitoring (ADDM) Network, a population-based, record-review surveillance system monitoring CP in four areas of the USA. Prevalence was calculated as the number of children with CP among all 8-year-old children residing in these areas in 2008. Motor function was categorized by Gross Motor Function Classification System level and walking ability. Co-occurring autism spectrum disorders (ASD) and epilepsy were ascertained using ADDM Network surveillance methodology.
ResultsThe period prevalence of CP for 2008 was 3.1 per 1000 8-year-old children (95% confidence interval 2.8-3.4). Approximately 58% of children walked independently. Co-occurring ASD frequency was 6.9% and was higher (18.4%) among children with non-spastic CP, particularly hypotonic CP. Co-occurring epilepsy frequency was 41% overall, did not differ by ASD status or CP subtype, and was highest (67%) among children with limited or no walking ability.
InterpretationThe prevalence of CP in childhood from US surveillance data has remained relatively constant, in the range of 3.1 to 3.6 per 1000, since 1996. The higher frequency of ASD in non-spastic than in spastic subtypes of CP calls for closer examination.
This article is commented on by Zwaigenbaum on pages of this issue.
C1 [Christensen, Deborah; Braun, Kim Van Naarden; Doernberg, Nancy S.; Yeargin-Allsopp, Marshalyn] Ctr Dis Control & Prevent, Div Birth Defects & Dev Disabil, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA 30333 USA.
[Maenner, Matthew J.; Arneson, Carrie L.; Durkin, Maureen S.; Benedict, Ruth E.] Univ Wisconsin, Waisman Ctr, Madison, WI 53705 USA.
[Maenner, Matthew J.; Durkin, Maureen S.] Univ Wisconsin, Dept Populat Hlth Sci, Madison, WI USA.
[Benedict, Ruth E.] Univ Wisconsin, Dept Kinesiol, Occupat Therapy Program, Madison, WI USA.
[Kirby, Russell S.] Univ S Florida, Coll Publ Hlth, Dept Community & Family Hlth, Tampa, FL USA.
[Wingate, Martha S.] Univ Alabama Birmingham, Sch Publ Hlth, Dept Hlth Care Org & Policy, Birmingham, AL 35294 USA.
[Fitzgerald, Robert] Washington Univ, Dept Psychiat, St Louis, MO USA.
RP Christensen, D (reprint author), Ctr Dis Control & Prevent, Div Birth Defects & Dev Disabil, Natl Ctr Birth Defects & Dev Disabil, 1600 Clifton Rd NE,MS E-86, Atlanta, GA 30333 USA.
EM dqc3@cdc.gov
RI Durkin, Maureen/B-7834-2015
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NR 23
TC 11
Z9 11
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 JAN
PY 2014
VL 56
IS 1
BP 59
EP 65
DI 10.1111/dmcn.12268
PG 7
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 267WG
UT WOS:000328128400013
PM 24117446
ER
PT J
AU Williams, ME
Fink, C
Zamora, I
Borchert, M
AF Williams, Marian E.
Fink, Cassandra
Zamora, Irina
Borchert, Mark
TI Autism assessment in children with optic nerve hypoplasia and other
vision impairments
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Article
ID LEBERS CONGENITAL AMAUROSIS; BLIND-CHILDREN; SPECTRUM DISORDERS;
YOUNG-CHILDREN; FEATURES
AB AimThis study examined the utility of standard autism diagnostic measures in nine children (aged 5-9y) with severe vision impairment and a range of social and language functioning.
MethodThe Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview, Revised (ADI-R) were systematically modified and used to assess symptoms of autism in children with vision less than or equal to 20/800, the majority of whom had optic nerve hypoplasia. The results of the assessments, including analysis of symptom patterns, were compared with expert autism diagnoses.
ResultsModified autism measures demonstrated good agreement with clinical diagnoses. Symptoms found to be most and least reliable in discriminating autism from behaviors common to most children with congenital vision impairment are described. Comparisons of current behavior with parent-reported behaviors from a younger age suggested that some symptoms of autism in very young children who are congenitally blind may improve with age.
InterpretationThe ADOS and ADI-R are useful for clinical assessment and for advancing research efforts to understand autism symptoms in children with vision impairment. However, some autistic symptoms in very young children may change over time, and developmental changes should be closely monitored.
This article is commented on by Matsuba on pages of this issue.
C1 [Williams, Marian E.] Univ So Calif, Keck Sch Med, Los Angeles, CA 90027 USA.
[Fink, Cassandra; Borchert, Mark] Childrens Hosp Los Angeles, Vis Ctr, Los Angeles, CA 90027 USA.
[Williams, Marian E.; Zamora, Irina] Univ So Calif, Univ Ctr Excellence Dev Disabil, Childrens Hosp Los Angeles, Los Angeles, CA 90027 USA.
RP Williams, ME (reprint author), Univ So Calif, Univ Ctr Excellence Dev Disabil, Childrens Hosp Los Angeles, 4650 Sunset Blvd,MS 53, Los Angeles, CA 90027 USA.
EM mwilliams@chla.usc.edu
FU Joseph Drown Foundation
FX This research was supported in part by a grant from the Joseph Drown
Foundation. The funder had no involvement in study design, data
collection, data analysis, manuscript preparation, and/or publication
decisions. The authors thank Ruth Rosner, Terese Pawletko, Pamela
Garcia-Filion, and Adriana Anaya for their consultation and assistance
with the study.
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NR 27
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0012-1622
EI 1469-8749
J9 DEV MED CHILD NEUROL
JI Dev. Med. Child Neurol.
PD JAN
PY 2014
VL 56
IS 1
BP 66
EP 72
DI 10.1111/dmcn.12264
PG 7
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 267WG
UT WOS:000328128400014
PM 24000901
ER
PT J
AU Venkateswaran, S
Mcmillan, HJ
Doja, A
Humphreys, P
AF Venkateswaran, Sunita
Mcmillan, Hugh J.
Doja, Asif
Humphreys, Peter
TI Adolescent onset cognitive regression and neuropsychiatric symptoms
associated with the A140V MECP2 mutation
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Article
ID LINKED MENTAL-RETARDATION; RETT-SYNDROME; PPM-X; ABNORMALITIES; FAMILY;
GENE
AB The phenotype attributed to MECP2 mutations continues to expand. In addition to classic and variant Rett syndrome, phenotypes include non-specific intellectual disability and autism spectrum disorder in females, and fatal neonatal encephalopathy in males. One particular phenotype of parkinsonism, pyramidal signs, and neuropsychiatric symptoms (PPM-X) has been described only in males. We report on the first female with the A140V MECP2 mutation presenting with late onset cognitive regression, pyramidal symptoms, parkinsonism, and bipolar symptoms. This finding emphasizes the need to consider MECP2 sequencing in females with non-classic Rett phenotypes, particularly those with intellectual disability and neuropsychiatric features.
C1 [Venkateswaran, Sunita; Mcmillan, Hugh J.; Doja, Asif; Humphreys, Peter] Childrens Hosp Eastern Ontario, Div Neurol, Dept Pediat, Ottawa, ON K1H 8L1, Canada.
RP Venkateswaran, S (reprint author), Childrens Hosp Eastern Ontario, Div Neurol, 401 Smyth Rd, Ottawa, ON K1H 8L1, Canada.
EM svenkateswaran@cheo.on.ca
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NR 18
TC 0
Z9 2
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 JAN
PY 2014
VL 56
IS 1
BP 91
EP 94
DI 10.1111/dmcn.12334
PG 4
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 267WG
UT WOS:000328128400018
PM 24328834
ER
PT J
AU van den Boomen, C
Lamme, VAF
Kemner, C
AF van den Boomen, Carlijn
Lamme, Victor A. F.
Kemner, Chantal
TI Parallel development of ERP and behavioural measurements of visual
segmentation
SO DEVELOPMENTAL SCIENCE
LA English
DT Article
ID FIGURE-GROUND SEGMENTATION; AUTISM SPECTRUM DISORDER; TEXTURE
SEGREGATION; CONTOUR INTEGRATION; MAGNETIC-RESONANCE; DISTINCT MODES;
CORTEX; CONNECTIVITY; FEEDFORWARD; CHILDREN
AB Visual segmentation, a process in which elements are integrated into a form and segregated from the background, is known to differ from adults at infancy. The further developmental trajectory of this process, and of the underlying brain mechanisms, during childhood and adolescence is unknown. The aim of the study was to investigate the developmental trajectory of ERP reflections of visual segmentation, and to relate this to behavioural performance. One hundred and eleven typically developing children from 7 to 18years of age were divided into six age groups. Each child performed two visual tasks. In a texture segmentation task, the difference in event-related potential (ERP) response to homogeneous (no visual segmentation) and checkered stimuli (visual segmentation) was investigated. In addition, behavioural performance on integration of elements into contours was measured. Both behavioural and ERP measurements of visual segmentation differed from adults in 7-12year-old children. Behaviourally, young children were less able to integrate elements into a contour than older children. In addition, a developmental change was present in the ERP pattern evoked by homogeneous versus checkered stimuli. The largest differences in behaviour and ERPs were found between 7-8- and 9-10-, and between 11-12- and 13-14-year-old children, indicating the strongest development between those age groups. Behavioural as well as ERP measurements at 13-14years of age showed similar results to those of adults. These results reveal that visual segmentation continues to develop until early puberty. Only by 13-14years of age, children do integrate and segregate visual information as adults do. These results can be interpreted in terms of functional connectivity within the visual cortex.
C1 [van den Boomen, Carlijn; Kemner, Chantal] Helmholtz Inst, Dept Expt Psychol, Utrecht, Netherlands.
[van den Boomen, Carlijn; Kemner, Chantal] Univ Utrecht, Dept Dev Psychol, NL-3584 CS Utrecht, Netherlands.
[Lamme, Victor A. F.] Univ Amsterdam, Dept Psychol, Fac Behav & Societal Sci, NL-1012 WX Amsterdam, Netherlands.
[Kemner, Chantal] Univ Med Ctr, Rudolf Magnus Inst Neurosci, Dept Child & Adolescent Psychiat, Utrecht, Netherlands.
RP van den Boomen, C (reprint author), Univ Utrecht, Dept Expt Psychol, Heidelberglaan 2,Unnik Bldg Room 16-17, NL-3584 CS Utrecht, Netherlands.
EM C.vandenboomen@uu.nl
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NR 41
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1467-7687
J9 DEVELOPMENTAL SCI
JI Dev. Sci.
PD JAN
PY 2014
VL 17
IS 1
BP 1
EP 10
DI 10.1111/desc.12093
PG 10
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA 274AT
UT WOS:000328578100001
PM 24102702
ER
PT J
AU Weigelt, S
Koldewyn, K
Dilks, DD
Balas, B
McKone, E
Kanwisher, N
AF Weigelt, Sarah
Koldewyn, Kami
Dilks, Daniel D.
Balas, Benjamin
McKone, Elinor
Kanwisher, Nancy
TI Domain-specific development of face memory but not face perception
SO DEVELOPMENTAL SCIENCE
LA English
DT Article
ID AUTISM SPECTRUM DISORDER; INDIVIDUAL-DIFFERENCES; RECOGNITION ABILITY;
VISUAL-CORTEX; PROSOPAGNOSIA; CHILDHOOD; OBJECTS; PROSOPAMNESIA;
CONNECTIVITY; ADOLESCENCE
AB How does the remarkable human ability for face recognition arise over development? Competing theories have proposed either late maturity (beyond 10years) or early maturity (before 5years), but have not distinguished between perceptual and memory aspects of face recognition. Here, we demonstrate a perception-memory dissociation. We compare rate of development for (adult, human) faces versus other social stimuli (bodies), other discrete objects (cars), and other categories processed in discrete brain regions (scenes, bodies), from 5years to adulthood. For perceptual discrimination, performance improved with age at the same rate for faces and all other categories, indicating no domain-specific development. In contrast, face memory increased more strongly than non-face memory, indicating domain-specific development. The results imply that each theory is partly true: the late maturity theory holds for face memory, and the early maturity theory for face perception.
C1 [Weigelt, Sarah; Koldewyn, Kami; Dilks, Daniel D.; Balas, Benjamin; Kanwisher, Nancy] MIT, Dept Brain & Cognit Sci, Cambridge, MA 02139 USA.
[Weigelt, Sarah] Ruhr Univ Bochum, Dept Psychol, D-44801 Bochum, Germany.
[Balas, Benjamin] N Dakota State Univ, Dept Psychol, Fargo, ND USA.
[McKone, Elinor] Australian Natl Univ, Dept Psychol, Canberra, ACT 0200, Australia.
RP Weigelt, S (reprint author), Ruhr Univ Bochum, Fak Psychol, Univ Str 150, D-44801 Bochum, Germany.
EM sarah.weigelt@rub.de
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NR 42
TC 9
Z9 9
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1467-7687
J9 DEVELOPMENTAL SCI
JI Dev. Sci.
PD JAN
PY 2014
VL 17
IS 1
BP 47
EP 58
DI 10.1111/desc.12089
PG 12
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA 274AT
UT WOS:000328578100005
PM 24118764
ER
PT J
AU McMichael, G
Girirajan, S
Moreno-De-Luca, A
Gecz, J
Shard, C
Nguyen, LS
Nicholl, J
Gibson, C
Haan, E
Eichler, E
Martin, CL
MacLennan, A
AF McMichael, Gai
Girirajan, Santhosh
Moreno-De-Luca, Andres
Gecz, Jozef
Shard, Chloe
Lam Son Nguyen
Nicholl, Jillian
Gibson, Catherine
Haan, Eric
Eichler, Evan
Martin, Christa Lese
MacLennan, Alastair
TI Rare copy number variation in cerebral palsy
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE copy number; cerebral palsy; microarray
ID AUTISM SPECTRUM DISORDERS; INTELLECTUAL DISABILITY; STRUCTURAL
VARIATION; DEVELOPMENTAL DELAY; MENTAL-RETARDATION; DEFICIENCY CAUSES;
ARRAY CGH; GENE; MICRODELETION; MICROCEPHALIN
AB Recent studies have established the role of rare copy number variants (CNVs) in several neurological disorders but the contribution of rare CNVs to cerebral palsy (CP) is not known. Fifty Caucasian families having children with CP were studied using two microarray designs. Potentially pathogenic, rare (<1% population frequency) CNVs were identified, and their frequency determined, by comparing the CNVs found in cases with 8329 adult controls with no known neurological disorders. Ten of the 50 cases (20%) had rare CNVs of potential relevance to CP; there were a total of 14 CNVs, which were observed in <0.1% (<8/8329) of the control population. Eight inherited from an unaffected mother: a 751-kb deletion including FSCB, a 1.5-Mb duplication of 7q21.13, a 534-kb duplication of 15q11.2, a 446-kb duplication including CTNND2, a 219-kb duplication including MCPH1, a 169-kb duplication of 22q13.33, a 64-kb duplication of MC2R, and a 135-bp exonic deletion of SLC06A1. Three inherited from an unaffected father: a 386-kb deletion of 12p12.2-p12.1, a 234-kb duplication of 10q26.13, and a 4-kb exonic deletion of COPS3. The inheritance was unknown for three CNVs: a 157-bp exonic deletion of ACOX1, a 693-kb duplication of 17q25.3, and a 265-kb duplication of DAAM1. This is the first systematic study of CNVs in CP, and although it did not identify de novo mutations, has shown inherited, rare CNVs involving potentially pathogenic genes and pathways requiring further investigation.
C1 [McMichael, Gai; Gibson, Catherine; MacLennan, Alastair] Univ Adelaide, Robinson Inst, Adelaide, SA, Australia.
[Girirajan, Santhosh; Eichler, Evan] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA USA.
[Moreno-De-Luca, Andres] Geisinger Hlth Syst, Autism & Dev Med Inst, Genom Med Inst, Danville, PA USA.
[Moreno-De-Luca, Andres] Geisinger Hlth Syst, Dept Pediat, Danville, PA USA.
[Gecz, Jozef; Nicholl, Jillian] SA Pathol Womens & Childrens Hosp, Adelaide, SA, Australia.
[Gecz, Jozef; Shard, Chloe; Lam Son Nguyen] Univ Adelaide, Womens & Childrens Hosp, Dept Paediat, Adelaide, SA, Australia.
[Haan, Eric] Univ Adelaide, South Australian Clin Genet Serv, SA Pathol Womens & Childrens Hosp, Adelaide, SA, Australia.
[Haan, Eric] Univ Adelaide, Discipline Paediat, Adelaide, SA, Australia.
[Martin, Christa Lese] Emory Univ, Dept Human Genet, Sch Med, Atlanta, GA USA.
RP McMichael, G (reprint author), Univ Adelaide, Robinson Inst, Level 3,Norwich Bldg,55 King William St, Adelaide, SA 5005, Australia.
EM gai.mcmichael@adelaide.edu.au
FU Australian National Health and Medical Research Council [1019928,
401184]; CP Alliance Research Foundation; Women's and Children's
Hospital Foundation; National Institute of Health; National Institute of
Mental Health [074090-08]
FX We thank Corinne Reynolds, Dr Michael O'Callaghan, Jessica Broadbent,
Drs Ray Russo, James Rice and Andrew Tidemann of the Paediatric
Rehabilitation Department at the Women's and Children's Hospital,
Adelaide for help with case recruitment. We especially thank the
families that participated in this study. This study is funded by the
Australian National Health and Medical Research Council (Grant No.
1019928), CP Alliance Research Foundation, Women's and Children's
Hospital Foundation and the National Institute of Health and National
Institute of Mental Health (Grant No. 074090-08). DNA/cell lines were
provided by Genetic Repositories Australia, an Enabling Facility
supported by the Australian National Health and Medical Research Council
(Grant No. 401184).
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NR 48
TC 4
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 JAN
PY 2014
VL 22
IS 1
BP 40
EP 45
DI 10.1038/ejhg.2013.93
PG 6
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 275PP
UT WOS:000328689600013
PM 23695280
ER
PT J
AU Mullegama, SV
Rosenfeld, JA
Orellana, C
van Bon, BWM
Halbach, S
Repnikova, EA
Brick, L
Li, CM
Dupuis, L
Rosello, M
Aradhya, S
Stavropoulos, DJ
Manickam, K
Mitchell, E
Hodge, JC
Talkowski, ME
Gusella, JF
Keller, K
Zonana, J
Schwartz, S
Pyatt, RE
Waggoner, DJ
Shaffer, LG
Lin, AE
de Vries, BBA
Mendoza-Londono, R
Elsea, SH
AF Mullegama, Sureni V.
Rosenfeld, Jill A.
Orellana, Carmen
van Bon, Bregje W. M.
Halbach, Sara
Repnikova, Elena A.
Brick, Lauren
Li, Chumei
Dupuis, Lucie
Rosello, Monica
Aradhya, Swaroop
Stavropoulos, D. James
Manickam, Kandamurugu
Mitchell, Elyse
Hodge, Jennelle C.
Talkowski, Michael E.
Gusella, James F.
Keller, Kory
Zonana, Jonathan
Schwartz, Stuart
Pyatt, Robert E.
Waggoner, Darrel J.
Shaffer, Lisa G.
Lin, Angela E.
de Vries, Bert B. A.
Mendoza-Londono, Roberto
Elsea, Sarah H.
TI Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5
in autism spectrum disorder
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE MBD5; gene dosage; 2q23.1; autism spectrum disorder; microduplication;
microdeletion
ID SMITH-MAGENIS SYNDROME; MICRODUPLICATION SYNDROMES; INTELLECTUAL
DISABILITY; MICRODELETION; DIAGNOSIS; FEATURES; NETWORK
AB Copy number variations associated with abnormal gene dosage have an important role in the genetic etiology of many neurodevelopmental disorders, including intellectual disability (ID) and autism. We hypothesize that the chromosome 2q23.1 region encompassing MBD5 is a dosage-dependent region, wherein deletion or duplication results in altered gene dosage. We previously established the 2q23.1 microdeletion syndrome and report herein 23 individuals with 2q23.1 duplications, thus establishing a complementary duplication syndrome. The observed phenotype includes ID, language impairments, infantile hypotonia and gross motor delay, behavioral problems, autistic features, dysmorphic facial features (pinnae anomalies, arched eyebrows, prominent nose, small chin, thin upper lip), and minor digital anomalies (fifth finger clinodactyly and large broad first toe). The microduplication size varies among all cases and ranges from 68 kb to 53.7 Mb, encompassing a region that includes MBD5, an important factor in methylation patterning and epigenetic regulation. We previously reported that haploinsufficiency of MBD5 is the primary causal factor in 2q23.1 microdeletion syndrome and that mutations in MBD5 are associated with autism. In this study, we demonstrate that MBD5 is the only gene in common among all duplication cases and that overexpression of MBD5 is likely responsible for the core clinical features present in 2q23.1 microduplication syndrome. Phenotypic analyses suggest that 2q23.1 duplication results in a slightly less severe phenotype than the reciprocal deletion. The features associated with a deletion, mutation or duplication of MBD5 and the gene expression changes observed support MBD5 as a dosage-sensitive gene critical for normal development.
C1 [Mullegama, Sureni V.; Elsea, Sarah H.] Virginia Commonwealth Univ, Sch Med, Dept Human & Mol Genet, Richmond, VA USA.
[Rosenfeld, Jill A.] PerkinElmer Inc, Signature Genom Labs, Spokane, WA USA.
[Orellana, Carmen; Rosello, Monica] Univ & Polytech Hosp La Fe, Serv Genet & Prenatal Diag, Valencia, Spain.
[van Bon, Bregje W. M.; de Vries, Bert B. A.] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.
[Halbach, Sara; Waggoner, Darrel J.] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA.
[Repnikova, Elena A.; Pyatt, Robert E.] Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH USA.
[Brick, Lauren; Li, Chumei] McMaster Univ, Med Ctr, Clin Genet Program, Dept Pediat, Hamilton, ON, Canada.
[Brick, Lauren; Li, Chumei] McMaster Childrens Hosp, Hamilton, ON, Canada.
[Dupuis, Lucie] Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada.
[Dupuis, Lucie; Mendoza-Londono, Roberto] Univ Toronto, Toronto, ON, Canada.
[Aradhya, Swaroop] GeneDx, Gaithersburg, MD USA.
[Stavropoulos, D. James] Hosp Sick Children, Cytogenet Lab, Dept Pediat Lab Med, Toronto, ON M5G 1X8, Canada.
[Stavropoulos, D. James] Univ Toronto, Dept Lab Med & Pathol, Toronto, ON, Canada.
[Manickam, Kandamurugu] Nationwide Childrens Hosp, Dept Pediat, Columbus, OH USA.
[Mitchell, Elyse; Hodge, Jennelle C.] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA.
[Mitchell, Elyse; Hodge, Jennelle C.] Mayo Clin, Dept Med Genet, Rochester, MN USA.
[Talkowski, Michael E.; Gusella, James F.; Lin, Angela E.] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA.
[Talkowski, Michael E.; Gusella, James F.] Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA.
[Talkowski, Michael E.; Gusella, James F.] Harvard Univ, Sch Med, Dept Genet, Cambridge, MA 02138 USA.
[Talkowski, Michael E.; Gusella, James F.] Harvard Univ, Sch Med, Dept Neurol, Cambridge, MA 02138 USA.
[Keller, Kory; Zonana, Jonathan] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Child Dev & Rehabil Ctr, Portland, OR 97201 USA.
[Schwartz, Stuart] Lab Corp Amer, Durham, NC USA.
[Shaffer, Lisa G.] Genetic Vet Sci Inc, Paw Print Genet, Spokane, WA USA.
[Lin, Angela E.] Massachusetts Gen Hosp Children, Boston, MA USA.
[Elsea, Sarah H.] Virginia Commonwealth Univ, Sch Med, Dept Pediat, Richmond, VA USA.
[Elsea, Sarah H.] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
RP Elsea, SH (reprint author), Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
EM elsea@bcm.edu
RI Orellana, Carmen/B-1925-2009; Rosello, Monica/B-2319-2009
OI Orellana, Carmen/0000-0003-4271-5859; Rosello,
Monica/0000-0001-9234-2953
FU Fondation Jerome Lejeune
FX We are thankful to all of the subjects and families involved in this
study. We are grateful for the assistance of Dr Trang Le, Ms Zalak Shah,
Mr Joshua Beach and Ms Jessica Webster in the collection of clinical
data and in the preparation of this manuscript and to Dr Shelley Waite
for neurologic evaluation of case MGH2. We thank the Fondation Jerome
Lejeune (SHE) for funding portions of this study. This work was
supported in part by resources from Virginia Commonwealth University and
the Ramon Areces Foundation.
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NR 24
TC 9
Z9 9
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 JAN
PY 2014
VL 22
IS 1
BP 57
EP 63
DI 10.1038/ejhg.2013.67
PG 7
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 275PP
UT WOS:000328689600016
PM 23632792
ER
PT J
AU Fusco, C
Micale, L
Augello, B
Pellico, MT
Menghini, D
Alfieri, P
Digilio, MC
Mandriani, B
Carella, M
Palumbo, O
Vicari, S
Merla, G
AF Fusco, Carmela
Micale, Lucia
Augello, Bartolomeo
Pellico, Maria Teresa
Menghini, Deny
Alfieri, Paolo
Digilio, Maria Cristina
Mandriani, Barbara
Carella, Massimo
Palumbo, Orazio
Vicari, Stefano
Merla, Giuseppe
TI Smaller and larger deletions of the Williams Beuren syndrome region
implicate genes involved in mild facial phenotype, epilepsy and autistic
traits
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE Williams Beuren syndrome; 7q11.23; haploinsufficiency; qPCR
ID ATYPICAL 7Q11.23 DELETION; INFANTILE SPASMS; GTF2IRD1; COGNITION;
TRANSCRIPTION; PATIENT; PROTEIN; PROFILE; ROLES; YWHAG
AB Williams Beuren syndrome (WBS) is a multisystemic disorder caused by a hemizygous deletion of 1.5Mb on chromosome 7q11.23 spanning 28 genes. A few patients with larger and smaller WBS deletion have been reported. They show clinical features that vary between isolated SVAS to the full spectrum of WBS phenotype, associated with epilepsy or autism spectrum behavior. Here we describe four patients with atypical WBS 7q11.23 deletions. Two carry similar to 3.5Mb larger deletion towards the telomere that includes Huntingtin-interacting protein 1 (HIP1) and tyrosine 3-monooxygenase/tryptophan 5-monooxigenase activation protein gamma (YWHAG) genes. Other two carry a shorter deletion of similar to 1.2Mb at centromeric side that excludes the distal WBS genes BAZ1B and FZD9. Along with previously reported cases, genotype-phenotype correlation in the patients described here further suggests that haploinsufficiency of HIP1 and YWHAG might cause the severe neurological and neuropsychological deficits including epilepsy and autistic traits, and that the preservation of BAZ1B and FZD9 genes may be related to mild facial features and moderate neuropsychological deficits. This report highlights the importance to characterize additional patients with 7q11.23 atypical deletions comparing neuropsychological and clinical features between these individuals to shed light on the pathogenic role of genes within and flanking the WBS region.
C1 [Fusco, Carmela; Micale, Lucia; Augello, Bartolomeo; Pellico, Maria Teresa; Mandriani, Barbara; Carella, Massimo; Palumbo, Orazio; Merla, Giuseppe] IRCCS Casa Sollievo Sofferenza, Med Genet Unit, San Giovanni Rotondo, Italy.
[Menghini, Deny; Alfieri, Paolo; Vicari, Stefano] IRCCS Children Hosp Bambino Gesu, Dept Neurosci, Child NeuroPsychiat Unit, Rome, Italy.
[Digilio, Maria Cristina] IRCCS Children Hosp Bambino Gesu, Rome, Italy.
[Mandriani, Barbara] Univ Brescia, Brescia, Italy.
[Merla, Giuseppe] Univ Trieste, Trieste, Italy.
RP Merla, G (reprint author), IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, Italy.
EM g.merla@operapadrepio.it
RI PALUMBO, ORAZIO/C-1133-2014
OI PALUMBO, ORAZIO/0000-0001-6583-3482
FU Italian Ministry of Health (Ricerca Corrente) [2008 10]; Jerome Lejeune
Foundation; Telethon Network of Genetic Biobanks [GTB12001]; Telethon
Italy
FX We thank all the families that agreed to participate and get possible
this study. This work was in part supported by grants from the Italian
Ministry of Health (Ricerca Corrente 2008 10) and the Jerome Lejeune
Foundation to GM. The GDB bank, member of the Telethon Network of
Genetic Biobanks (Project No. GTB12001), funded by Telethon Italy,
provided us with some WBS specimens.
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NR 40
TC 2
Z9 2
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 JAN
PY 2014
VL 22
IS 1
BP 64
EP 70
DI 10.1038/ejhg.2013.101
PG 7
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 275PP
UT WOS:000328689600017
PM 23756441
ER
PT J
AU Nava, C
Keren, B
Mignot, C
Rastetter, A
Chantot-Bastaraud, S
Faudet, A
Fonteneau, E
Amiet, C
Laurent, C
Jacquette, A
Whalen, S
Afenjar, A
Perisse, D
Doummar, D
Dorison, N
Leboyer, M
Siffroi, JP
Cohen, D
Brice, A
Heron, D
Depienne, C
AF Nava, Caroline
Keren, Boris
Mignot, Cyril
Rastetter, Agnes
Chantot-Bastaraud, Sandra
Faudet, Anne
Fonteneau, Eric
Amiet, Claire
Laurent, Claudine
Jacquette, Aurelia
Whalen, Sandra
Afenjar, Alexandra
Perisse, Didier
Doummar, Diane
Dorison, Nathalie
Leboyer, Marion
Siffroi, Jean-Pierre
Cohen, David
Brice, Alexis
Heron, Delphine
Depienne, Christel
TI Prospective diagnostic analysis of copy number variants using SNP
microarrays in individuals with autism spectrum disorders
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE copy number variants; autism spectrum disorders; 15q11-q12 triplication;
autosomal recessive inheritance; genetic interactions
ID DE-NOVO MUTATIONS; 3Q29 MICRODELETION SYNDROME; RECEPTOR SUBTYPE EP3;
GENES; RISK; REARRANGEMENTS; SCHIZOPHRENIA; DELETION; REGION; MICE
AB Copy number variants (CNVs) have repeatedly been found to cause or predispose to autism spectrum disorders (ASDs). For diagnostic purposes, we screened 194 individuals with ASDs for CNVs using Illumina SNP arrays. In several probands, we also analyzed candidate genes located in inherited deletions to unmask autosomal recessive variants. Three CNVs, a de novo triplication of chromosome 15q11-q12 of paternal origin, a deletion on chromosome 9p24 and a de novo 3q29 deletion, were identified as the cause of the disorder in one individual each. An autosomal recessive cause was considered possible in two patients: a homozygous 1p31.1 deletion encompassing PTGER3 and a deletion of the entire DOCK10 gene associated with a rare hemizygous missense variant. We also identified multiple private or recurrent CNVs, the majority of which were inherited from asymptomatic parents. Although highly penetrant CNVs or variants inherited in an autosomal recessive manner were detected in rare cases, our results mainly support the hypothesis that most CNVs contribute to ASDs in association with other CNVs or point variants located elsewhere in the genome. Identification of these genetic interactions in individuals with ASDs constitutes a formidable challenge.
C1 [Nava, Caroline; Rastetter, Agnes; Laurent, Claudine; Brice, Alexis; Depienne, Christel] Hop La Pitie Salpetriere, Inst Cerveau & Moelle Epiniere ICM, INSERM, CRICM U975, F-75013 Paris, France.
[Nava, Caroline; Rastetter, Agnes; Laurent, Claudine; Brice, Alexis; Depienne, Christel] Hop La Pitie Salpetriere, CNRS CRICM 7225, F-75013 Paris, France.
[Nava, Caroline; Rastetter, Agnes; Brice, Alexis; Depienne, Christel] Univ Paris 06, UMR S 975, Paris, France.
[Nava, Caroline; Mignot, Cyril; Faudet, Anne; Jacquette, Aurelia; Whalen, Sandra; Afenjar, Alexandra; Brice, Alexis; Heron, Delphine; Depienne, Christel] Unite Fonct Genet Clin, Dept Genet & Cytogenet, Hop La Pitie Salpetriere, AP HP, Paris, France.
[Keren, Boris; Fonteneau, Eric] Unite Fonct Cytogenet, Dept Genet & Cytogenet, Hop La Pitie Salpetriere, AP HP, Paris, France.
[Mignot, Cyril; Afenjar, Alexandra; Doummar, Diane; Dorison, Nathalie; Heron, Delphine] Hop Armand Trousseau, AP HP, Serv Neuropediat, Paris, France.
[Mignot, Cyril; Jacquette, Aurelia; Afenjar, Alexandra; Heron, Delphine] Ctr Reference Deficiences Intellectuelles Causes, Paris, France.
[Mignot, Cyril; Jacquette, Aurelia; Afenjar, Alexandra; Heron, Delphine] UPMC, Grp Rech Clin GRC Deficience Intellectuelle & Aus, Paris, France.
[Chantot-Bastaraud, Sandra; Siffroi, Jean-Pierre] Hop Armand Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France.
[Amiet, Claire; Laurent, Claudine; Perisse, Didier; Cohen, David] Hop La Pitie Salpetriere, AP HP, Serv Psychiat Enfant & Adolescent, F-75013 Paris, France.
[Afenjar, Alexandra; Dorison, Nathalie] Hop Armand Trousseau, Ctr Reference Anomalies Dev & Syndromes Malformat, Paris, France.
[Perisse, Didier] Hop La Pitie Salpetriere, Ctr Diagnost Autisme, F-75013 Paris, France.
[Leboyer, Marion] Hop Henri Mondor, INSERM, U955, F-94010 Creteil, France.
[Leboyer, Marion] Univ Paris Est, Fac Med, Creteil, France.
[Leboyer, Marion] Hop H Mondor A Chenevier, AP HP, Pole Psychiat, Creteil, France.
[Leboyer, Marion] Fdn FondaMental, Creteil, France.
[Cohen, David] Univ Paris 06, CNRS UMR 7222, Inst Syst Intelligents & Robot, Paris, France.
[Brice, Alexis; Depienne, Christel] Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Unite Fonct Neurogenet Mol & Cellulaire, F-75013 Paris, France.
RP Depienne, C (reprint author), Hop La Pitie Salpetriere, Inst Cerveau & Moelle Epiniere ICM, INSERM, CRICM U975, F-75013 Paris, France.
EM christel.depienne@upmc.fr
FU AP-HP (DHOS); Fondation de France; ERA-NET NEURON EUHFAUTISM; INSERM
FX We thank the P3S platform, the 'Plateau technique Mutualise du GHU Est',
and the genotyping and sequencing platform of the ICM for technical
assistance and the DNA and cell bank of CRICM for DNA extraction and
cell culture. We also thank Dr Merle Ruberg for critical reading of the
manuscript and Sophie Rivaud-Pechoux for her help with the statistical
analysis. This study was financially supported by AP-HP (DHOS),
Fondation de France, ERA-NET NEURON EUHFAUTISM and INSERM.
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NR 48
TC 8
Z9 8
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 JAN
PY 2014
VL 22
IS 1
BP 71
EP 78
DI 10.1038/ejhg.2013.88
PG 8
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 275PP
UT WOS:000328689600018
PM 23632794
ER
PT J
AU Polan, MB
Pastore, MT
Steingass, K
Hashimoto, S
Thrush, DL
Pyatt, R
Reshmi, S
Gastier-Foster, JM
Astbury, C
McBride, KL
AF Polan, Michelle B.
Pastore, Matthew T.
Steingass, Katherine
Hashimoto, Sayaka
Thrush, Devon L.
Pyatt, Robert
Reshmi, Shalini
Gastier-Foster, Julie M.
Astbury, Caroline
McBride, Kim L.
TI Neurodevelopmental disorders among individuals with duplication of 4p13
to 4p12 containing a GABA(A) receptor subunit gene cluster
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE autism; bipolar disorder; chromosome disorders; DNA copy number
variation; intellectual disabilities; GABA(A)
ID FEBRILE SEIZURES; COPY NUMBER; EPILEPSY; DISEASE; AUTISM
AB Recent studies have shown that certain copy number variations (CNV) are associated with a wide range of neurodevelopmental disorders, including autism spectrum disorders (ASD), bipolar disorder and intellectual disabilities. Implicated regions and genes have comprised a variety of post synaptic complex proteins and neurotransmitter receptors, including gamma-amino butyric acid A (GABA(A)). Clusters of GABA(A) receptor subunit genes are found on chromosomes 4p12, 5q34, 6q15 and 15q11-13. Maternally inherited 15q11-13 duplications among individuals with neurodevelopmental disorders are well described, but few case reports exist for the other regions. We describe a family with a 2.42Mb duplication at chromosome 4p13 to 4p12, identified in the index case and other family members by oligonucleotide array comparative genomic hybridization, that contains 13 genes including a cluster of four GABA(A) receptor subunit genes. Fluorescent in-situ hybridization was used to confirm the duplication. The duplication segregates with a variety of neurodevelopmental disorders in this family, including ASD (index case), developmental delay, dyspraxia and ADHD (brother), global developmental delays (brother), learning disabilities (mother) and bipolar disorder (maternal grandmother). In addition, we identified and describe another individual unrelated to this family, with a similar duplication, who was diagnosed with ASD, ADHD and borderline intellectual disability. The 4p13 to 4p12 duplication appears to confer a susceptibility to a variety of neurodevelopmental disorders in these two families. We hypothesize that the duplication acts through a dosage effect of GABA(A) receptor subunit genes, adding evidence for alterations in the GABAergic system in the etiology of neurodevelopmental disorders.
C1 [Polan, Michelle B.; Pastore, Matthew T.; McBride, Kim L.] Nationwide Childrens Hosp, Res Inst, Div Mol & Human Genet, Columbus, OH 43205 USA.
[Pastore, Matthew T.; Steingass, Katherine; Gastier-Foster, Julie M.; McBride, Kim L.] Ohio State Univ, Dept Pediat, Columbus, OH 43210 USA.
[Steingass, Katherine] Nationwide Childrens Hosp, Res Inst, Div Behav Pediat, Columbus, OH 43205 USA.
[Hashimoto, Sayaka; Thrush, Devon L.; Pyatt, Robert; Reshmi, Shalini; Gastier-Foster, Julie M.; Astbury, Caroline] Nationwide Childrens Hosp, Res Inst, Dept Pathol & Lab Med, Columbus, OH 43205 USA.
[Thrush, Devon L.; Pyatt, Robert; Reshmi, Shalini; Gastier-Foster, Julie M.; Astbury, Caroline] Ohio State Univ, Dept Pathol, Columbus, OH 43210 USA.
[McBride, Kim L.] Nationwide Childrens Hosp, Res Inst, Ctr Cardiovasc & Pulm Res, Columbus, OH 43205 USA.
RP McBride, KL (reprint author), Nationwide Childrens Hosp, Res Inst, Div Mol & Human Genet, 700 Childrens Dr, Columbus, OH 43205 USA.
EM Kim.McBride@nationwidechildrens.org
RI McBride, Kim/A-5879-2008; Pastore, Matthew/B-6867-2012; Astbury,
Caroline/E-2665-2011; Gastier-Foster, Julie/E-3105-2011
OI McBride, Kim/0000-0002-8407-8942;
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NR 18
TC 2
Z9 2
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 JAN
PY 2014
VL 22
IS 1
BP 105
EP 109
DI 10.1038/ejhg.2013.99
PG 5
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 275PP
UT WOS:000328689600023
PM 23695283
ER
PT J
AU Brady, LS
Potter, WZ
AF Brady, Linda S.
Potter, William Z.
TI Public-private partnerships to revitalize psychiatric drug discovery
SO EXPERT OPINION ON DRUG DISCOVERY
LA English
DT Editorial Material
DE Alzheimer's Disease Neuroimaging Initiative; autism spectrum disorder;
biomarkers; Biomarkers Consortium; cellular models; consortia; disease
phenotyping; major depressive disorder; psychiatric drug discovery;
psychiatric genetics; public-private partnerships; schizophrenia
ID THERAPEUTICS DISCOVERY; DISORDERS; DISEASE
AB Introduction: Precompetitive public-private partnerships (PPPs) have the potential to improve psychiatric drug discovery by addressing gaps in the research and development pipeline such as the identification and validation of new targets, models, biomarkers and disease phenotyping. PPPs are a model to strategically bring together expertise, in-kind support and funding from multiple public and private sector partners.
Areas covered: This editorial describes selected case examples of established and emerging public-private consortia in the United States and Europe that provide tools, methods or resources to accelerate central nervous system (CNS) drug discovery. The authors provides a listing of public-private consortia projects that focus on the CNS, the stage of the drug discovery pipeline that they address, diseases, deliverables provided and current consortia partners.
Expert opinion: Some of the projects undertaken by PPPs in the area of CNS drug discovery and development are beginning to make tools, resources and data publicly available. Only a few PPPs have delivered enough to extract lessons learned. These include building alignment across a wide group of stakeholders, engaging advocacy groups and funding commitments for a minimum of 5 years.
C1 [Brady, Linda S.] NIMH, Div Neurosci & Basic Behav Sci, Bethesda, MD 20892 USA.
[Potter, William Z.] NIMH, Bethesda, MD 20892 USA.
RP Brady, LS (reprint author), NIMH, Div Neurosci & Basic Behav Sci, 6001 Execut Blvd, Bethesda, MD 20892 USA.
EM lbrady@mail.nih.gov
CR [Anonymous], 2011, PROG NEUROBIOL, V95, P629
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NIH-Industry Pilot, DISC NEW THER US
Norman TC, 2011, SCI TRANSL MED, V3
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NR 18
TC 1
Z9 1
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1746-0441
EI 1746-045X
J9 EXPERT OPIN DRUG DIS
JI Expert. Opin. Drug Discov.
PD JAN
PY 2014
VL 9
IS 1
BP 1
EP 8
DI 10.1517/17460441.2014.867944
PG 8
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA 274CM
UT WOS:000328582700001
PM 24308355
ER
PT J
AU Ryoo, SM
Sohn, CH
Oh, BJ
Kim, WY
Lim, KS
AF Ryoo, S. M.
Sohn, C. H.
Oh, B. J.
Kim, W. Y.
Lim, K. S.
TI A case of severe methemoglobinemia caused by hair dye poisoning
SO HUMAN & EXPERIMENTAL TOXICOLOGY
LA English
DT Article
DE Methemoglobinemia; paraphenylenediamine; methylene blue; ingestion;
cyanosis
ID MANAGEMENT
AB Context: Hair dyes are widely used and very popular xenobiotics. Most of these products contain paraphenylenediamine (PPD) that can cause methemoglobinemia. We here report a case of severe methemoglobinemia that we treated using large amounts of methylene blue. Case details: A 30-year-old man visited a regional hospital with cyanosis. He was congenitally blind and had autism. For several weeks, he had mistaken hair dye for toothpaste. When he arrived at a regional hospital, he was drowsy with cyanosis and his initial serum methemoglobin (MetHb) level was 59.5%. After being treated with 2mg/kg methylene blue (1mg/kgx2 administrations), he was transferred to a tertiary university hospital. Upon presentation at the Emergency Department in the tertiary hospital, his MetHb level was found to be 49.4% and his oxygen saturation was 80%. He was then admitted to the intensive care unit. After treatment with 4mg/kg methylene blue (1mg/kgx4 administrations), he successfully recovered. Discussion: Because PPD can result in serious methemoglobinemia, clinicians should test it in cyanotic patients who have been exposed to hair dye for an extended period.
C1 [Ryoo, S. M.; Sohn, C. H.; Oh, B. J.; Kim, W. Y.; Lim, K. S.] Univ Ulsan, Coll Med, Dept Emergency Med, Asan Med Ctr, Seoul 138736, South Korea.
RP Sohn, CH (reprint author), Univ Ulsan, Coll Med, Dept Emergency Med, Asan Med Ctr, 88 Olymp Ro,43 Gil, Seoul 138736, South Korea.
EM schwan97@gmail.com
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NR 10
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0960-3271
EI 1477-0903
J9 HUM EXP TOXICOL
JI Hum. Exp. Toxicol.
PD JAN
PY 2014
VL 33
IS 1
BP 103
EP 105
DI 10.1177/0960327113480973
PG 3
WC Toxicology
SC Toxicology
GA 274HY
UT WOS:000328598600011
PM 23515496
ER
PT J
AU Corradi, A
Fadda, M
Piton, A
Patry, L
Marte, A
Rossi, P
Cadieux-Dion, M
Gauthier, J
Lapointe, L
Mottron, L
Valtorta, F
Rouleau, GA
Fassio, A
Benfenati, F
Cossette, P
AF Corradi, Anna
Fadda, Manuela
Piton, Amelie
Patry, Lysanne
Marte, Antonella
Rossi, Pia
Cadieux-Dion, Maxime
Gauthier, Julie
Lapointe, Line
Mottron, Laurent
Valtorta, Flavia
Rouleau, Guy A.
Fassio, Anna
Benfenati, Fabio
Cossette, Patrick
TI SYN2 is an autism predisposing gene: loss-of-function mutations alter
synaptic vesicle cycling and axon outgrowth
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID MOUSE MOTOR TERMINALS; I-DEFICIENT MICE; SYNAPSIN-II; SPECTRUM DISORDER;
NEUROTRANSMITTER RELEASE; INHIBITORY SYNAPSES; KNOCKOUT MICE; BEHAVIORAL
ABNORMALITIES; MENTAL-RETARDATION; RESTING POOL
AB An increasing number of genes predisposing to autism spectrum disorders (ASDs) has been identified, many of which are implicated in synaptic function. This 'synaptic autism pathway' notably includes disruption of SYN1 that is associated with epilepsy, autism and abnormal behavior in both human and mice models. Synapsins constitute a multigene family of neuron-specific phosphoproteins (SYN1-3) present in the majority of synapses where they are implicated in the regulation of neurotransmitter release and synaptogenesis. Synapsins I and II, the major Syn isoforms in the adult brain, display partially overlapping functions and defects in both isoforms are associated with epilepsy and autistic-like behavior in mice. In this study, we show that nonsense (A94fs199X) and missense (Y236S and G464R) mutations in SYN2 are associated with ASD in humans. The phenotype is apparent in males. Female carriers of SYN2 mutations are unaffected, suggesting that SYN2 is another example of autosomal sex-limited expression in ASD. When expressed in SYN2 knockout neurons, wild-type human Syn II fully rescues the SYN2 knockout phenotype, whereas the nonsense mutant is not expressed and the missense mutants are virtually unable to modify the SYN2 knockout phenotype. These results identify for the first time SYN2 as a novel predisposing gene for ASD and strengthen the hypothesis that a disturbance of synaptic homeostasis underlies ASD.
C1 [Corradi, Anna; Fadda, Manuela; Marte, Antonella; Rossi, Pia; Fassio, Anna; Benfenati, Fabio] Univ Genoa, Dept Expt Med, I-16132 Genoa, Italy.
[Fadda, Manuela; Fassio, Anna; Benfenati, Fabio] Fdn Ist Italiano Tecnol, Dept Neurosci & Brain Technol, I-16132 Genoa, Italy.
[Piton, Amelie; Patry, Lysanne; Cadieux-Dion, Maxime; Gauthier, Julie; Lapointe, Line; Mottron, Laurent; Rouleau, Guy A.; Cossette, Patrick] Univ Montreal, CHUM Hop Notre Dame, Ctr Excellence Neur, Montreal, PQ H2L 4M1, Canada.
[Piton, Amelie; Patry, Lysanne; Cadieux-Dion, Maxime; Gauthier, Julie; Lapointe, Line; Mottron, Laurent; Rouleau, Guy A.; Cossette, Patrick] Univ Montreal, CHUM Hop Notre Dame, CHUM Res Ctr, Montreal, PQ H2L 4M1, Canada.
[Valtorta, Flavia] Ist Sci San Raffaele, I-20132 Milan, Italy.
[Valtorta, Flavia] Univ Vita Salute San Raffaele, I-20132 Milan, Italy.
RP Benfenati, F (reprint author), Fdn Ist Italiano Tecnol, Dept Neurosci & Neurotechnol, Via Morego 30, I-16163 Genoa, Italy.
EM fabio.benfenati@iit.it
RI fassio, anna/K-4482-2014
OI fassio, anna/0000-0002-8801-038X
FU Canadian Institute for Health Research and Genome Canada; Savoy
Foundation; Italian Ministry of University and Research; Italian
Ministry of Health Progetto Giovani; Compagnia di San Paolo, Torino;
Quebec Ministry of International Relationships; Italian Ministry of
Foreign Affairs; Telethon, Italy
FX This work was supported by grants from the Canadian Institute for Health
Research and Genome Canada (to P. C. and G. A. R.), the Savoy Foundation
(to L. P.), the Italian Ministry of University and Research (PRIN to A.
C., F. B. and F. V.), the Italian Ministry of Health Progetto Giovani
(to A. F.), the Compagnia di San Paolo, Torino (to A. F., F. V. and F.
B.) and the Quebec Ministry of International Relationships and Italian
Ministry of Foreign Affairs (to P. C. and F. B.). Funding to pay the
Open Access publication charges for this article was provided by
Telethon, Italy.
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NR 72
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 JAN 1
PY 2014
VL 23
IS 1
BP 90
EP 103
DI 10.1093/hmg/ddt401
PG 14
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 272SZ
UT WOS:000328482300008
PM 23956174
ER
PT J
AU Scott, KS
Tetnowski, JA
Flaitz, JR
Yaruss, JS
AF Scott, Kathleen Scaler
Tetnowski, John A.
Flaitz, James R.
Yaruss, J. Scott
TI Preliminary study of disfluency in school-aged children with autism
SO INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS
LA English
DT Article
DE autism; school-aged children; Asperger's syndrome; stuttering;
dysfluency
ID WORD-FINAL DISFLUENCIES; ASPERGER-SYNDROME; SOCIOECONOMIC-STATUS;
LANGUAGE DISORDERS; SPECTRUM DISORDERS; BRAIN-DAMAGE; FLUENCY; SPEECH;
REPETITIONS; STUTTER
AB BackgroundIn recent years, there has been increased identification of disfluencies in individuals with autism, but limited examination of disfluencies in the school-age range of this population. We currently lack information about whether the disfluencies of children with autism represent concomitant stuttering, normal disfluency, excessive normal disfluency, or some form of disfluency unique to the school-age population of children with autism.
AimsThis paper explores the nature of disfluencies in school-aged children with autism in comparison with matched children who stutter and controls. It explores stuttering-like disfluencies, non-stuttering-like disfluencies and word-final disfluencies.
Methods & ProceduresThis study compared disfluency patterns in 11 school-aged children with Asperger's syndrome (AS), 11 matched children who stutter (CWS), and 11 matched children with no diagnosis (ND). Analyses were based on speech samples collected during an expository discourse task.
Outcomes & ResultsResults reveal statistically significant differences between children with AS and CWS and between children with AS and those with ND for the percentage of words containing stuttering-like disfluencies. In the AS group, four out of 11 (36%) met the common diagnostic criteria for a fluency disorder. Disfluencies in the AS group differed qualitatively and quantitatively from the CWS, and included a larger distribution of word-final disfluencies.
Conclusions & ImplicationsThis study provides initial data regarding patterns of disfluency in school-aged children with AS that, with careful consideration and the cautious application of all findings, can assist therapists in making more evidence-based diagnostic decisions. Findings offer evidence that when working with children with AS, disfluencies both similar and dissimilar to those of CWS may be identified in at least a subset of those with AS. Therefore, children with AS should be screened for fluency disorders during their initial evaluation and treated if it is determined that the fluency disorder negatively impacts the effectiveness of communication.
C1 [Scott, Kathleen Scaler] Misericordia Univ, Dept Speech Language Pathol, Dallas, PA 18612 USA.
[Scott, Kathleen Scaler; Tetnowski, John A.; Flaitz, James R.] Univ Louisiana Lafayette, Dept Communicat Disorders, Lafayette, LA 70504 USA.
[Yaruss, J. Scott] Univ Pittsburgh, Sch Hlth & Rehabil Sci, Pittsburgh, PA USA.
RP Scott, KS (reprint author), Misericordia Univ, Dept Speech Language Pathol, 301 Lake St, Dallas, PA 18612 USA.
EM kscott@misericordia.edu
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NR 80
TC 1
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 JAN
PY 2014
VL 49
IS 1
BP 75
EP 89
DI 10.1111/1460-6984.12048
PG 15
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA 275XD
UT WOS:000328711800006
ER
PT J
AU Gunji, A
Inagaki, M
AF Gunji, Atsuko
Inagaki, Masumi
TI Noninvasive detection of face perception characteristics in children
with autism spectrum disorders
SO JAPANESE PSYCHOLOGICAL RESEARCH
LA English
DT Review
DE autism spectrum disorders (ASD); children; noninvasive neuroimaging
technique; face
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; PERSONALLY
FAMILIAR FACES; SUPERIOR TEMPORAL SULCUS; BIOLOGICAL MOTION; SELF-FACE;
FUSIFORM GYRUS; ASPERGER-SYNDROME; JOINT ATTENTION; SOCIAL-PERCEPTION
AB Children with autism spectrum disorders (ASD) have delayed or deviant social interaction and communication skills. Recent neuroimaging studies have corroborated unique behaviors and patterns of facial information processing in children with ASD, such as less attention toward faces, atypical gaze pattern and face inversion effect, and difficulty in understanding facial expressions and identification of faces. The findings suggest that these specific face recognition characteristics are the result of detail-focused processing and/or a distinctive cognitive style in dealing with visual inputs. This paper reviews our recent work evaluating social perception of faces using noninvasive neuroimaging techniques in children with ASD.
C1 [Gunji, Atsuko; Inagaki, Masumi] Natl Ctr Neurol & Psychiat, Kodaira, Tokyo 1878553, Japan.
RP Gunji, A (reprint author), Natl Ctr Neurol & Psychiat, Natl Inst Mental Hlth, Kodaira, Tokyo 1878553, Japan.
EM agunji@ncnp.go.jp
RI Gunji, Atsuko/O-6323-2014
OI Gunji, Atsuko/0000-0001-8908-8739
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NR 90
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-5368
EI 1468-5884
J9 JPN PSYCHOL RES
JI Jpn. Psychol. Res.
PD JAN
PY 2014
VL 56
IS 1
SI SI
BP 91
EP 102
DI 10.1111/jpr.12038
PG 12
WC Psychology, Multidisciplinary
SC Psychology
GA 273OO
UT WOS:000328545000009
ER
PT J
AU Mayes, SD
Gordon, M
Calhoun, SL
Bixler, EO
AF Mayes, Susan D.
Gordon, Michael
Calhoun, Susan L.
Bixler, Edward O.
TI Long-Term Temporal Stability of Measured Inattention and Impulsivity in
Typical and Referred Children
SO JOURNAL OF ATTENTION DISORDERS
LA English
DT Article
DE attention; Gordon Diagnostic System norms; ADHD; autism
ID DEFICIT HYPERACTIVITY DISORDER; GORDON DIAGNOSTIC SYSTEM;
ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; OPPOSITIONAL-DEFIANT DISORDER;
FRONTAL-LOBE FUNCTIONS; IV ASPERGERS-DISORDER; PROCESSING SPEED;
WISC-III; RISK-FACTORS; ADHD
AB Objective: This study investigates the stability of measured inattention and impulsivity in children. Method: The Gordon Diagnostic System (GDS) assesses inattention and impulsivity and has been administered in the same manner since its 1983 publication. GDS scores were compared between the 1983 standardization sample and a recent typical sample of 445 children, 562 children with ADHD-Combined (ADHD-C) type, 235 with ADHD-Inattentive (ADHD-I) type, and 231 with autism. Results: Typical children earned a GDS composite standard score of 100, consistent with the normal mean of 100 in the 1983 standardization sample. Means for children with ADHD-C, ADHD-I, and autism were 70, 78, and 76, respectively, approximately two standard deviations below the normal mean. Conclusion: As measured by the GDS, children are no more or less inattentive and impulsive today than in 1983, suggesting that inattention and impulsivity are stable neurobiological traits largely unaffected by cultural, educational, and environmental factors.
C1 [Mayes, Susan D.; Calhoun, Susan L.; Bixler, Edward O.] Penn State Coll Med, Dept Psychiat, Hershey, PA 17033 USA.
[Gordon, Michael] SUNY Upstate Med Univ, Attent Deficit Hyperact Disorders Program, Syracuse, NY 13210 USA.
RP Mayes, SD (reprint author), Penn State Coll Med, 500 Univ Dr, Hershey, PA 17033 USA.
EM smayes@psu.edu
FU National Institutes of Health [RO1 HL063772, MO1 RR010732, CO6 RR016499]
FX The author(s) disclosed receipt of the following financial support for
the research, authorship, and/or publication of this article: This study
was supported by National Institutes of Health grants RO1 HL063772, MO1
RR010732, and CO6 RR016499.
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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 1087-0547
EI 1557-1246
J9 J ATTEN DISORD
JI J. Atten. Disord.
PD JAN
PY 2014
VL 18
IS 1
SI SI
BP 23
EP 30
DI 10.1177/1087054712448961
PG 8
WC Psychology, Developmental; Psychiatry
SC Psychology; Psychiatry
GA 277PI
UT WOS:000328831300003
PM 22689649
ER
PT J
AU Adviento, B
Corbin, IL
Widjaja, F
Desachy, G
Enrique, N
Rosser, T
Risi, S
Marco, EJ
Hendren, RL
Bearden, CE
Rauen, KA
Weiss, LA
AF Adviento, Brigid
Corbin, Iris L.
Widjaja, Felicia
Desachy, Guillaume
Enrique, Nicole
Rosser, Tena
Risi, Susan
Marco, Elysa J.
Hendren, Robert L.
Bearden, Carrie E.
Rauen, Katherine A.
Weiss, Lauren A.
TI Autism traits in the RASopathies
SO JOURNAL OF MEDICAL GENETICS
LA English
DT Article
DE Autism; Neurofibromatosis Type 1; Costello Syndrome; Noonan Syndrome;
Cranio-Facio-Cutaneous Syndrome
ID PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC OBSERVATION SCHEDULE;
DE-NOVO MUTATIONS; SOCIAL RESPONSIVENESS SCALE; FACIO-CUTANEOUS
SYNDROME; SPECTRUM DISORDERS; NEUROFIBROMATOSIS TYPE-1;
COSTELLO-SYNDROME; NOONAN SYNDROME; COGNITIVE DEFICITS
AB Background Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Previous work has suggested potential genetic and phenotypic overlap between dysregulation of Ras/MAPK signalling and autism spectrum disorders (ASD). Although the literature offers conflicting evidence for association of NF1 and autism, there has been no systematic evaluation of autism traits in the RASopathies as a class to support a role for germline Ras/MAPK activation in ASDs.
Methods We examined the association of autism traits with NF1, NS, CS and CFC, comparing affected probands with unaffected sibling controls and subjects with idiopathic ASDs using the qualitative Social Communication Questionnaire (SCQ) and the quantitative Social Responsiveness Scale (SRS).
Results Each of the four major RASopathies showed evidence for increased qualitative and quantitative autism traits compared with sibling controls. Further, each RASopathy exhibited a distinct distribution of quantitative social impairment. Levels of social responsiveness show some evidence of correlation between sibling pairs, and autism-like impairment showed a male bias similar to idiopathic ASDs.
Conclusions Higher prevalence and severity of autism traits in RASopathies compared to unaffected siblings suggests that dysregulation of Ras/MAPK signalling during development may be implicated in ASD risk. Evidence for sex bias and potential sibling correlation suggests that autism traits in the RASopathies share characteristics with autism traits in the general population and clinical ASD population and can shed light on idiopathic ASDs.
C1 [Adviento, Brigid; Corbin, Iris L.; Widjaja, Felicia; Desachy, Guillaume; Risi, Susan; Hendren, Robert L.] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA 94143 USA.
[Adviento, Brigid; Corbin, Iris L.; Desachy, Guillaume; Rauen, Katherine A.; Weiss, Lauren A.] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA.
[Corbin, Iris L.] Sutter Pacific Med Fdn, Prenatal Diag Ctr, San Francisco, CA USA.
[Enrique, Nicole; Bearden, Carrie E.] Univ Calif Los Angeles, Dept Psychol, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90024 USA.
[Rosser, Tena] Childrens Hosp Los Angeles, Dept Neurol, Los Angeles, CA USA.
[Marco, Elysa J.] Univ Calif San Francisco, Dept Child Neurol, San Francisco, CA 94143 USA.
[Bearden, Carrie E.] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90024 USA.
[Rauen, Katherine A.] Univ Calif San Francisco, Dept Pediat Genet, San Francisco, CA 94143 USA.
RP Weiss, LA (reprint author), Univ Calif San Francisco, Langley Porter Neuropsychiat Inst, Dept Psychiat,Nina Ireland Lab, Inst Human Genet,Ctr Neurobiol & Psychiat, Box F-0984,401 Parnassus Ave,Rm A101, San Francisco, CA 94143 USA.
EM Lauren.Weiss@ucsf.edu
FU NIH New Innovator [1DP2OD007449]; SFARI Explorer [257754]; IHG
Exploratory Grant; Staglin Family/IMHRO Assistant Professorship; NIMH
[R34 MH089299-01]; Carol Moss Spivak Foundation
FX The work was supported by the NIH New Innovator 1DP2OD007449 (LAW),
SFARI Explorer #257754 (LAW), an IHG Exploratory Grant (LAW), a Staglin
Family/IMHRO Assistant Professorship (LAW), NIMH R34 MH089299-01 (CEB)
and the Carol Moss Spivak Foundation (CEB).
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NR 78
TC 8
Z9 8
PU BMJ PUBLISHING GROUP
PI LONDON
PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
SN 0022-2593
EI 1468-6244
J9 J MED GENET
JI J. Med. Genet.
PD JAN
PY 2014
VL 51
IS 1
BP 10
EP 20
DI 10.1136/jmedgenet-2013-101951
PG 11
WC Genetics & Heredity
SC Genetics & Heredity
GA 276IY
UT WOS:000328745200002
PM 24101678
ER
PT J
AU Tian, Y
Yabuki, Y
Moriguchi, S
Fukunaga, K
Mao, PJ
Hong, LJ
Lu, YM
Wang, R
Ahmed, MM
Liao, MH
Huang, JY
Zhang, RT
Zhou, TY
Long, S
Han, F
AF Tian, Yun
Yabuki, Yasushi
Moriguchi, Shigeki
Fukunaga, Kohji
Mao, Pei-Jiang
Hong, Ling-Juan
Lu, Ying-Mei
Wang, Rui
Ahmed, Muhammad Masood
Liao, Mei-Hua
Huang, Ji-Yun
Zhang, Rui-Ting
Zhou, Tian-Yi
Long, Sen
Han, Feng
TI Melatonin reverses the decreases in hippocampal protein serine/threonine
kinases observed in an animal model of autism
SO JOURNAL OF PINEAL RESEARCH
LA English
DT Article
DE autism; CaMKII; hippocampus; melatonin; phosphorylation; valproic acid
ID LONG-TERM POTENTIATION; MILD COGNITIVE IMPAIRMENT; SYNAPTIC PLASTICITY;
SPECTRUM DISORDERS; RAT HIPPOCAMPUS; ANTIEPILEPTIC DRUGS; NITROSATIVE
STRESS; ENDOTHELIAL-CELLS; SODIUM VALPROATE; MOUSE MODEL
AB Lower global cognitive function scores are a common symptom of autism spectrum disorders (ASDs). This study investigates the effects of melatonin on hippocampal serine/threonine kinase signaling in an experimental ASD model. We found that chronic melatonin (1.0 or 5.0mg/kg/day, 28days) treatment significantly rescued valproic acid (VPA, 600mg/kg)-induced decreases in CaMKII (Thr286), NMDAR1 (Ser896), and PKA (Thr197) phosphorylation in the hippocampus without affecting total protein levels. Compared with control rats, the immunostaining of pyramidal neurons in the hippocampus revealed a decrease in immunolabeling intensity for phospho-CaMKII (Thr286) in the hippocampus of VPA-treated rats, which was ameliorated by chronic melatonin treatment. Consistent with the elevation of CaMKII/PKA/PKC phosphorylation observed in melatonin-treated rat, long-term potentiation (LTP) was enhanced after chronic melatonin (5.0mg/kg) treatment, as reflected by extracellular field potential slopes that increased from 56 to 60min (133.4 +/- 3.9% of the baseline, P<0.01 versus VPA-treated rats) following high-frequency stimulation (HFS) in hippocampal slices. Accordingly, melatonin treatment also significantly improved social behavioral deficits at postnatal day 50 in VPA-treated rats. Taken together, the increased phosphorylation of CaMKII/PKA/PKC signaling might contribute to the beneficial effects of melatonin on autism symptoms.
C1 [Tian, Yun; Mao, Pei-Jiang; Hong, Ling-Juan; Wang, Rui; Ahmed, Muhammad Masood; Liao, Mei-Hua; Huang, Ji-Yun; Zhang, Rui-Ting; Zhou, Tian-Yi; Long, Sen; Han, Feng] Zhejiang Univ, Inst Pharmacol Toxicol & Biochem Pharmaceut, Hangzhou 310058, Zhejiang, Peoples R China.
[Yabuki, Yasushi; Moriguchi, Shigeki; Fukunaga, Kohji] Tohoku Univ, Dept Pharmacol, Grad Sch Pharmaceut Sci, Sendai, Miyagi 980, Japan.
[Mao, Pei-Jiang] Zhejiang Res Inst Tradit Chinese Med, Hangzhou, Zhejiang, Peoples R China.
[Lu, Ying-Mei] Zhejiang Univ, Sch Med, City Coll, Hangzhou 310003, Zhejiang, Peoples R China.
[Wang, Rui] Ningxia Med Univ, Dept Pharmacol, Yinchuan, Peoples R China.
[Long, Sen] Hangzhou 7 Peoples Hosp, Dept Pharm, Hangzhou, Zhejiang, Peoples R China.
RP Han, F (reprint author), Zhejiang Univ, Inst Pharmacol Toxicol & Biochem Pharmaceut, Hangzhou 310058, Zhejiang, Peoples R China.
EM changhuahan@zju.edu.cn
FU National Natural Science Foundations of China [91232705, 81202533];
Qianjiang Talents Program of Zhejiang Province, China [2012R10036]
FX This work was partially supported by National Natural Science
Foundations of China (91232705; 81202533); Qianjiang Talents Program of
Zhejiang Province, China (2012R10036).
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NR 62
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0742-3098
EI 1600-079X
J9 J PINEAL RES
JI J. Pineal Res.
PD JAN
PY 2014
VL 56
IS 1
BP 1
EP 11
DI 10.1111/jpi.12081
PG 11
WC Endocrinology & Metabolism; Neurosciences; Physiology
SC Endocrinology & Metabolism; Neurosciences & Neurology; Physiology
GA 266DH
UT WOS:000328002100001
PM 23952810
ER
PT J
AU Schmidt, JD
Drasgow, E
Halle, JW
Martin, CA
Bliss, SA
AF Schmidt, Jonathan D.
Drasgow, Erik
Halle, James W.
Martin, Christian A.
Bliss, Sacha A.
TI Discrete-Trial Functional Analysis and Functional Communication Training
With Three Individuals With Autism and Severe Problem Behavior
SO JOURNAL OF POSITIVE BEHAVIOR INTERVENTIONS
LA English
DT Article
DE functional assessment; children with autism; PDD; challenging
behavior(s); functional communication training
ID SELF-INJURIOUS-BEHAVIOR; RESPONSE EFFICIENCY; SEVERE DISABILITIES;
INTERVENTION; THERAPISTS; CHILDREN
AB Discrete-trial functional analysis (DTFA) is an experimental method for determining the variables maintaining problem behavior in the context of natural routines. Functional communication training (FCT) is an effective method for replacing problem behavior, once identified, with a functionally equivalent response. We implemented these procedures in the natural environment for three individuals with developmental disabilities who resided in a residential treatment facility. Study 1 results show that the DTFA procedures experimentally validated the function of each participant's problem behavior after completing a functional assessment using informal and descriptive methods. Study 2 results reveal that FCT was successful at replacing problem behavior with an alternative communication behavior that served the same function. A unique feature of this study was the use of behavioral indication (i.e., observable behavior signaling momentary motivation) as a cue for determining when to deliver the FCT intervention.
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[Drasgow, Erik] Univ S Carolina, Columbia, SC 29208 USA.
[Halle, James W.] Univ Illinois, Urbana, IL 61801 USA.
[Martin, Christian A.] Atlas Supports, Columbia, SC USA.
[Bliss, Sacha A.] Univ Tennessee, Ctr Hlth Sci, Memphis, TN 38163 USA.
RP Schmidt, JD (reprint author), Kennedy Krieger Inst, 707 N Broadway, Baltimore, MD 21205 USA.
EM schmidtj@kennedykrieger.org
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Reichle J., 1990, NAT WORK C POS APPR
Ringdahl JE, 2000, J APPL BEHAV ANAL, V33, P247, DOI 10.1901/jaba.2000.33-247
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NR 32
TC 1
Z9 1
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 JAN
PY 2014
VL 16
IS 1
BP 44
EP 55
DI 10.1177/1098300712470519
PG 12
WC Psychology, Clinical; Education, Special
SC Psychology; Education & Educational Research
GA 273YG
UT WOS:000328571600005
ER
PT J
AU Greenwald, AE
Williams, WL
Seniuk, HA
AF Greenwald, Ashley E.
Williams, W. Larry
Seniuk, Holly A.
TI Decreasing Supermarket Tantrums by Increasing Shopping Tasks: Advantages
of Pre-Teaching
SO JOURNAL OF POSITIVE BEHAVIOR INTERVENTIONS
LA English
DT Article
DE children with autism; PDD; challenging behavior(s); community-based
intervention(s)
ID BEHAVIOR; COMMUNITY
AB A brief training package consisting of pre-teaching of appropriate grocery item-gathering skills and reinforcement for appropriate behavior was used to teach a child diagnosed with autism to remain in a store and participate in shopping without exhibiting tantrums. The training package began with teaching the necessary component skills and expectations in the participant's home, and these skills were then established at a local supermarket.
C1 [Greenwald, Ashley E.; Williams, W. Larry; Seniuk, Holly A.] Univ Nevada, Reno, NV 89557 USA.
RP Greenwald, AE (reprint author), Univ Nevada, Dept Psychol 296, 1664 North Virginia St, Reno, NV 89557 USA.
EM greenwald.ashley@gmail.com
CR BARNARD JD, 1977, J APPL BEHAV ANAL, V10, P49, DOI 10.1901/jaba.1977.10-49
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NR 8
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 JAN
PY 2014
VL 16
IS 1
BP 56
EP 59
DI 10.1177/1098300713482976
PG 4
WC Psychology, Clinical; Education, Special
SC Psychology; Education & Educational Research
GA 273YG
UT WOS:000328571600006
ER
PT J
AU Buckley, TW
Ente, AP
Ruef, MB
AF Buckley, Trevor W.
Ente, Angela P.
Ruef, Michael B.
TI Improving a Family's Overall Quality of Life Through Parent Training in
Pivotal Response Treatment
SO JOURNAL OF POSITIVE BEHAVIOR INTERVENTIONS
LA English
DT Article
DE autism; PRT; quality of life; parent training
ID AUTISM SPECTRUM DISORDER; CHILDREN; EDUCATION; PROGRAM; STRESS
AB As the diagnoses of autism in young children continually increase, the need for families to have access to research-based treatment models that are effective and efficient has become clear. Current research demonstrates the demand for parent-delivered behavioral interventions. The aim of this single-case study, conducted as part of an integrated Masters in Education/Special Education Credential Program, was to examine the relationship between one parent trained in pivotal response treatment (PRT), her implementation of PRT techniques, and the correlated gains of behavioral compliance in her 6-year-old boy with high-functioning autism (HFA). Visual analysis of collected data as well as calculation of nonoverlapping data points suggest that a parent, when effectively trained, can utilize PRT to increase the rate of behavioral compliance of his or her own children.
C1 [Buckley, Trevor W.] Realizing Childrens Strengths RCS Behav Consultin, Boston, MA USA.
[Ente, Angela P.] Koegel Autism Consultants, Santa Barbara, CA USA.
[Ente, Angela P.] Univ Calif Santa Barbara, Santa Barbara, CA 93106 USA.
[Ruef, Michael B.] Calif Polytech State Univ San Luis Obispo, San Luis Obispo, CA 93407 USA.
RP Ente, AP (reprint author), 994 Pellham Dr, Lompoc, CA 93436 USA.
EM angelaente@yahoo.com
CR Baker-Ericzen MJ, 2007, J POSIT BEHAV INTERV, V9, P52, DOI 10.1177/10983007070090010601
Billstedt E, 2011, AUTISM, V15, P7, DOI 10.1177/1362361309346066
Cooper J. O., 2007, APPL BEHAV ANAL
Dillenburger K, 2004, J INTELLECT DEV DIS, V29, P119, DOI 10.1080/13668250410001709476
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Johnson N, 2011, FAM SYST HEALTH, V29, P232, DOI 10.1037/a0025341
Khanna R, 2011, J AUTISM DEV DISORD, V41, P1214, DOI 10.1007/s10803-010-1140-6
Koegel R. L., 2012, PRT POCKET GUIDE PIV
Koegel R. L., 2006, PIVOTAL RESPONSE TRE
Koegel RL, 1996, J AUTISM DEV DISORD, V26, P347, DOI 10.1007/BF02172479
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Singh NN, 2006, J EMOT BEHAV DISORD, V14, P169, DOI 10.1177/10634266060140030401
Whitney R., 2012, OT PRACTICE, V17, P10
NR 18
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 JAN
PY 2014
VL 16
IS 1
BP 60
EP 63
DI 10.1177/1098300713483177
PG 4
WC Psychology, Clinical; Education, Special
SC Psychology; Education & Educational Research
GA 273YG
UT WOS:000328571600007
ER
PT J
AU Cederlof, M
Gotby, AO
Larsson, H
Serlachius, E
Boman, M
Langstrom, N
Landen, M
Lichtenstein, P
AF Cederlof, Martin
Gotby, Agnes Ohlsson
Larsson, Henrik
Serlachius, Eva
Boman, Marcus
Langstrom, Niklas
Landen, Mikael
Lichtenstein, Paul
TI Klinefelter syndrome and risk of psychosis, autism and ADHD
SO JOURNAL OF PSYCHIATRIC RESEARCH
LA English
DT Article
DE Klinefelter syndrome; Schizophrenia; Bipolar disorder; Autism spectrum
disorder; ADHD; Epidemiology
ID HOSPITAL DISCHARGE DIAGNOSES; SCHIZOPHRENIA; REGISTER; DISORDER
AB Background: Schizophrenia, bipolar disorder, autism spectrum disorders and ADHD might be over-represented in Klinefelter syndrome, but previous investigations have yielded inconclusive results.
Methods: We compared a national sample of 860 Klinefelter patients in Sweden with 86 000 matched population controls. To assess the risks of schizophrenia, bipolar disorder, autism spectrum disorder and ADHD in Klinefelter patients, we estimated odds ratios and 95% confidence intervals using conditional logistic regressions.
Results: Klinefelter patients had almost four times higher risks of schizophrenia, odds ratio (OR) = 3.6, 95% confidence interval (CI) 2.0-6.7 and bipolar disorder (OR = 3.8, CI 1.8-7.6) and about six times higher risk of autism spectrum disorder (OR = 6.2, Cl 4.0-9.4) and ADHD (OR = 5.6, CI 4.0-7.8).
Conclusions: The risk of psychosis, autism and ADHD is increased in Klinefelter patients. These findings indicate an X chromosome-related factor in the etiology of the studied psychiatric disorders, and may also have implications for treatment of patients with Klinefelter syndrome. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Cederlof, Martin; Gotby, Agnes Ohlsson; Larsson, Henrik; Boman, Marcus; Langstrom, Niklas; Landen, Mikael; Lichtenstein, Paul] Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17177 Stockholm, Sweden.
[Langstrom, Niklas] Swedish Prison & Probat Serv, R&D Unit, Norrkoping, Sweden.
[Landen, Mikael] Univ Gothenburg, Inst Neurosci & Physiol, Gothenburg, Sweden.
[Serlachius, Eva] Karolinska Inst, Ctr Psychiat Res & Educ, Dept Clin Neurosci, SE-17177 Stockholm, Sweden.
RP Cederlof, M (reprint author), Karolinska Inst, Dept Med Epidemiol & Biostat, Box 281, SE-17177 Stockholm, Sweden.
EM Martin.Cederlof@ki.se
CR Bojesen A, 2006, J CLIN ENDOCR METAB, V91, P1254, DOI 10.1210/jc.2005-0697
Bojesen A, 2003, J CLIN ENDOCR METAB, V88, P622, DOI 10.1210/jc.2002-021491
Bruining H, 2009, PEDIATRICS, V123, P865
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Mors O, 2001, PSYCHOL MED, V31, P425
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Van Rijn S, 2006, BRIT J PSYCHIAT, V189, P459, DOI 10.1192/bjp.bp.105.008961
NR 9
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 JAN
PY 2014
VL 48
IS 1
BP 128
EP 130
DI 10.1016/j.jpsychires.2013.10.001
PG 3
WC Psychiatry
SC Psychiatry
GA 275YY
UT WOS:000328716500017
PM 24139812
ER
PT J
AU Michielsen, LA
van der Heijden, FMMA
Janssen, PKC
Kuijpers, HJH
AF Michielsen, Laura A.
van der Heijden, Frank M. M. A.
Janssen, Paddy K. C.
Kuijpers, Harold J. H.
TI Effects of maternal psychotropic drug dosage on birth outcomes
SO NEUROPSYCHIATRIC DISEASE AND TREATMENT
LA English
DT Article
DE pregnancy; psychotropic medication; dosage; birth outcomes
ID REUPTAKE INHIBITOR ANTIDEPRESSANTS; AUTISM SPECTRUM DISORDERS; PRENATAL
EXPOSURE; NEONATAL OUTCOMES; IN-UTERO; DEPRESSION; PREGNANCY; RISK;
GROWTH
AB Background: The aim of this retrospective study was to explore the relationship between psychotropic medication dosage and birth outcomes.
Methods: A total of 136 women were enrolled, who had an active mental disorder, were taking medication to prevent a relapse, or had a history of postpartum depression or psychosis. Medication use was evaluated for the three trimesters and during labor. Based on the defined daily dose, medication use was classified into three groups. Primary outcome variables included the infant gestational age at birth, birth weight, and Apgar scores at one and 5 minutes.
Results: Our study showed a significantly higher incidence of Apgar score <= 7 at 5 minutes in women taking psychotropic drugs as compared with the group taking no medication, respectively (16.3% versus 0.0%, P=0.01). There was no significant difference between the two groups in Apgar score at one minute or in gestational age and birth weight. The results showed no significant differences in gestational age, birth weight, or Apgar scores for a low-intermediate or high dose of a selective serotonin reuptake inhibitor and for a low or intermediate dose of an antipsychotic.
Conclusion: This study does not indicate a relationship between doses of selective serotonin reuptake inhibitors and antipsychotics and adverse neonatal outcomes.
C1 [Michielsen, Laura A.; van der Heijden, Frank M. M. A.; Kuijpers, Harold J. H.] Vincent van Gogh Inst Psychiat, Venlo, Netherlands.
[Janssen, Paddy K. C.] VieCuri Med Ctr, Dept Pharm, Venlo, Netherlands.
RP Kuijpers, HJH (reprint author), Twee Steden Ziekenhuis, Dr Deelenlaan 5, NL-5042 AD Tilburg, Netherlands.
EM h.kuijpers@tsz.nl
CR ATC/DDD index, 2012, ATC DDD IND 2012
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NR 28
TC 1
Z9 1
PU DOVE MEDICAL PRESS LTD
PI ALBANY
PA PO BOX 300-008, ALBANY, AUCKLAND 0752, NEW ZEALAND
SN 1176-6328
EI 1178-2021
J9 NEUROPSYCH DIS TREAT
JI Neuropsychiatr. Dis. Treat.
PY 2014
VL 10
BP 13
EP 18
DI 10.2147/NDT.S53430
PG 6
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 272QR
UT WOS:000328475800001
PM 24376355
ER
PT J
AU Wood, PL
AF Wood, Paul L.
TI Mass Spectrometry Strategies for Clinical Metabolomics and Lipidomics in
Psychiatry, Neurology, and Neuro-Oncology
SO NEUROPSYCHOPHARMACOLOGY
LA English
DT Review
DE metabolomics; autism; schizophrenia; glioblastoma; plasmalogens;
sulfatides
ID ETHANOLAMINE PLASMALOGEN DEFICIENCY; AUTISM SPECTRUM DISORDERS; EARLY
ALZHEIMERS-DISEASE; ELECTROSPRAY-IONIZATION; SCHIZOPHRENIC-PATIENTS;
AMINO-ACIDS; CHROMATOGRAPHY/MASS SPECTROMETRY; TARGETED METABOLOMICS;
CHEMICAL-IONIZATION; GAS-CHROMATOGRAPHY
AB Although advances in psychotherapy have been made in recent years, drug discovery for brain diseases such as schizophrenia and mood disorders has stagnated. The need for new biomarkers and validated therapeutic targets in the field of neuropsychopharmacology is widely unmet. The brain is the most complex part of human anatomy from the standpoint of number and types of cells, their interconnections, and circuitry. To better meet patient needs, improved methods to approach brain studies by understanding functional networks that interact with the genome are being developed. The integrated biological approaches-proteomics, transcriptomics, metabolomics, and glycomics-have a strong record in several areas of biomedicine, including neurochemistry and neuro-oncology. Published applications of an integrated approach to projects of neurological, psychiatric, and pharmacological natures are still few but show promise to provide deep biological knowledge derived from cells, animal models, and clinical materials. Future studes that yield insights based on integrated analyses promise to deliver new therapeutic targets and biomarkers for personalized medicine.
C1 Lincoln Mem Univ, DeBusk Coll Osteopath Med, Dept Physiol & Pharmacol, Metab Unit, Harrogate, TN 37752 USA.
RP Wood, PL (reprint author), Lincoln Mem Univ, DeBusk Coll Osteopath Med, Dept Physiol & Pharmacol, Metab Unit, Math & Sci 435,6965 Cumberland Gap Pkwy, Harrogate, TN 37752 USA.
EM paul.wood@lmunet.edu
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NR 95
TC 2
Z9 3
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 JAN
PY 2014
VL 39
IS 1
BP 24
EP 33
DI 10.1038/npp.2013.167
PG 10
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA 274DD
UT WOS:000328584500003
PM 23842599
ER
PT J
AU Migliore, A
Butterworth, J
Zalewska, A
AF Migliore, Alberto
Butterworth, John
Zalewska, Agnieszka
TI Trends in Vocational Rehabilitation Services and Outcomes of Youth With
Autism: 2006-2010
SO REHABILITATION COUNSELING BULLETIN
LA English
DT Article
DE employment; career; vocational; process and outcome; rehabilitation
counseling; transition
ID SPECTRUM DISORDERS; EMPLOYMENT OUTCOMES; ADULTS; DISABILITIES;
INDIVIDUALS; TRANSITION; PROGRAM
AB As the number of adults with a diagnosis of autism continues to grow, attention is drawn to whether they receive adequate services and achieve satisfactory employment outcomes, compared with their peers with other disabilities. After examining data from the U.S. state vocational rehabilitation programs from the years 2006-2010, we found that youth with autism received similar levels of services and reported similar employment outcomes compared with their peers with other disabilities. However, these outcomes were modest, declining, and substantially different across states, regardless of the types of disabilities. We recommend continuous monitoring of services and outcomes of people with autism and other disabilities as a means to promote their economic self-sufficiency and inclusion in society.
C1 [Migliore, Alberto; Butterworth, John; Zalewska, Agnieszka] Univ Massachusetts, Boston, MA 02116 USA.
RP Migliore, A (reprint author), Univ Massachusetts, Inst Community Inclus, 20 Pk Plaza,Suite 1300, Boston, MA 02116 USA.
EM amiglior@gmail.com
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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 0034-3552
EI 1538-4853
J9 REHABIL COUNS BULL
JI Rehabil. Couns. Bull.
PD JAN
PY 2014
VL 57
IS 2
BP 80
EP 89
DI 10.1177/0034355213493930
PG 10
WC Rehabilitation
SC Rehabilitation
GA 271BA
UT WOS:000328364000002
ER
PT J
AU Schlooz, WAJM
Hulstijn, W
AF Schlooz, Wim A. J. M.
Hulstijn, Wouter
TI Boys with autism spectrum disorders show superior performance on the
adult Embedded Figures Test
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; PDD-NOS; Embedded Figures Test; Central coherence; Cognitive
development
ID PERVASIVE DEVELOPMENTAL DISORDER; VISUAL-SEARCH; ENHANCED
DISCRIMINATION; CHILDREN; TASK; IV
AB Weak central coherence is frequently studied using the Embedded Figures Test (EFT) yielding mixed and ambiguous results. In this study, the performance of 36 boys (9-14 years) with Autism Spectrum Disorders (ASD) is compared with that of 46 typical peers using both the children's and the adult version of the EFT. Only in the adult version did the ASD group outperform the controls in terms of accuracy. Corrected for age and pIQ a subgroup of boys with Autistic Disorder (AD) showed superior perceptual processing capacities, while the performance of boys with PDD-NOS and Asperger Syndrome was in between that of those with AD and the controls. The findings strongly suggest that children and adolescents with ASD will only show superior results on visual-perceptual tests if the task complexity and thus their sensitivity is sufficiently high to challenge typically developing age-matched peers. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Schlooz, Wim A. J. M.] Reinier van Arkelgrp, Ctr Child & Adolescent Psychiat Herlaarhof, NL-5261 LR Vught, Netherlands.
[Hulstijn, Wouter] Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, Netherlands.
RP Schlooz, WAJM (reprint author), Reinier van Arkelgrp, Ctr Child & Adolescent Psychiat Herlaarhof, Parklaan 21,POB 10150, NL-5261 LR Vught, Netherlands.
EM w.schlooz@RvAgroep.nl; W.Hulstijn@donders.ru.nl
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NR 25
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 JAN
PY 2014
VL 8
IS 1
BP 1
EP 7
DI 10.1016/j.rasd.2013.10.004
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 276AL
UT WOS:000328720400001
ER
PT J
AU Cheldavi, H
Shakerian, S
Boshehri, SNS
Zarghami, M
AF Cheldavi, Hakim
Shakerian, Saeid
Boshehri, Seyedeh Nahid Shetab
Zarghami, Mehdi
TI The effects of balance training intervention on postural control of
children with autism spectrum disorder: Role of sensory information
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Postural control; Compliant surface; Sensory; Balance training
ID HIGH-FUNCTIONING AUTISM; CHALLENGING BEHAVIORS; ASPERGERS-DISORDER;
ANKLE INSTABILITY; BASAL GANGLIA; MOTOR; MOVEMENT; IMPAIRMENT;
CEREBELLUM; STABILITY
AB Purpose: The aim of this study was to investigate the effect of balance training intervention in children with autism spectrum disorder (ASD), and to explore the relative role of the sensory systems in such kids.
Methodology: We recruited 20 school children (IQ> 80) diagnosed with ASD, and categorized them in two groups; a 10-member training group (average age: 7.70 +/- 1.05) and a 10-member control group (average age: 7.90 1.10). Thus, following a six-week-long balance training intervention in four conditions of bipedal upright stance [compliant (Foam) vs. non-compliant (Hard) with eyes-open (EO) vs. eyes-closed (EC)), we examined measures such as mean velocity (V), anteroposterior (AP) and mediolateral (ML) axis displacement, and compared the results to those calculated prior to the initiation of the intervention using MANOVA test.
Results: This study showed that the balance training program efficiently improved the postural control in ASD suffering children, and that removing the visual and plantar proprioceptive information led to increased sway in both groups. The training group performed significantly better than the control group in all conditions.
Conclusion: It is thus concludable that children suffering from ASD can benefit from such balance training programs to improve their balance and postural control. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Cheldavi, Hakim; Shakerian, Saeid; Boshehri, Seyedeh Nahid Shetab; Zarghami, Mehdi] Shahid Chamran Univ Ahvaz, Fac Phys Educ & Sport Sci, Sport Psychol Dept, Ahwaz 7573114838, Iran.
RP Cheldavi, H (reprint author), Shahid Chamran Univ Ahvaz, Fac Phys Educ & Sport Sci, Sport Psychol Dept, Ahwaz 7573114838, Iran.
EM h.chaldavi_24@yahoo.com
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NR 41
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 JAN
PY 2014
VL 8
IS 1
BP 8
EP 14
DI 10.1016/j.rasd.2013.09.016
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 276AL
UT WOS:000328720400002
ER
PT J
AU Kaat, AJ
Lecavalier, L
AF Kaat, Aaron J.
Lecavalier, Luc
TI Group-based social skills treatment: A methodological review
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Review
DE Autism spectrum disorders; Social skills training; Intervention;
Methodology
ID AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; RANDOMIZED
CONTROLLED-TRIAL; PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC
OBSERVATION SCHEDULE; ASPERGER-SYNDROME; PSYCHOSOCIAL INTERVENTIONS;
TRAINING-PROGRAM; PEER ACCEPTANCE; YOUNG-CHILDREN
AB Group-based social skills training (SST) is a common treatment for children with autism spectrum disorders (ASD). There has been exponential growth in group-based SST in recent years. This review evaluated the SST literature published between 2000 and 2012 on a number of methodological variables. Key quality indicators included conducting a randomized controlled trial (RCT), having a well-characterized sample, using a manualized intervention, and using validated outcome measures. We identified a total of 48 studies. Thirteen studies (27%) were RCTs. Twenty-two studies (46%) had wellcharacterized samples, but only four (8%) explicitly allowed eligibility for individuals with intellectual disability. Eighteen (38%) had 10 or fewer participants in each active treatment condition. Most studies used or adapted a manual (71%), and had validated outcome measures (92%). Several rating scales and performance measures have seen widespread use. Methodological rigor has been improving as the field grows, especially with regard to the key quality indicators. We provide additional recommendations for future trials regarding study design, expanding participant characterization, statistical methods and analyses, and outcome measures. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Kaat, Aaron J.; Lecavalier, Luc] Ohio State Univ, Nisonger Ctr, Dept Psychol, Columbus, OH 43210 USA.
[Lecavalier, Luc] Ohio State Univ, Dept Psychiat, Columbus, OH 43210 USA.
RP Lecavalier, L (reprint author), Ohio State Univ, Nisonger Ctr, 371D McCampbell Hall,1581 Dodd Dr, Columbus, OH 43210 USA.
EM luc.lecavalier@osumc.edu
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NR 78
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 JAN
PY 2014
VL 8
IS 1
BP 15
EP 24
DI 10.1016/j.rasd.2013.10.007
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 276AL
UT WOS:000328720400003
ER
PT J
AU Inoue, K
Wada, M
Natsuyama, T
Karnitani, S
Miyaoka, H
AF Inoue, Katsuo
Wada, Mariko
Natsuyama, Takashi
Karnitani, Syunsuke
Miyaoka, Hitoshi
TI The feature of high reading ability in high-functioning pervasive
developmental disorders of childhood: Analysis of the K-ABC and WISC-3rd
assessment
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE HFPDD; Reading ability; K-ABC; WISC-3rd
ID AUTISM SPECTRUM DISORDERS; LANGUAGE IMPAIRMENT; PRAGMATIC LANGUAGE;
CHILDREN; MIND; COMPREHENSION; HYPERLEXIA; EXPLORATION; DEFICITS
AB We aimed to examine whether children with high-functioning pervasive developmental disorders (HFPDD) have higher reading ability and how their reading ability relates to other cognitive components. Our participants were a HFPDD group (N = 35) and a non-PDD clinical group (N=25). We assessed reading ability with the "Reading/Decoding" and "Reading/Understanding" subtests of the Kaufman Assessment Battery for Children (KABC) Japanese version. To investigate the relationship with other cognitive components, we calculated correlation coefficients between the each subtest and the other l(-ABC and WISC-3rd subtests scores. Analysis with a general linear model revealed significantly higher standard scores on the two subtests of the HFPDD group than the non-PDD. Pearson's correlation coefficients showed different patterns between the two groups (the two subtests significantly related to "Word order" and, "Mazes" in the HFPDD group). These results suggest that HFPDD children have higher reading ability, but read words like symbols without adapting for inferring and comprehending contexts through semantic application of the words. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Inoue, Katsuo; Karnitani, Syunsuke] Kitasato Univ, Sch Med, Dept Psychiat, Div Integrated Psychosocial Care Community & Chil, Sagamihara, Kanagawa 2520374, Japan.
[Wada, Mariko] Kitasato Univ Hosp, Dept Psychiat, Sangamihara, Kanagawa, Japan.
[Natsuyama, Takashi; Miyaoka, Hitoshi] Kitasato Univ, Sch Med, Dept Psychiat, Sagamihara, Kanagawa 2520374, Japan.
RP Inoue, K (reprint author), Kitasato Univ, Sch Med, Dept Psychiat,Div Integrated Psychosocial Care Co, Minami Ku, Kitasato 1-15-1, Sagamihara, Kanagawa 2520374, Japan.
EM k.inoue-saulharp@nifty.com
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT, P50
American Psychiatric Association, 2000, DIAGN STAT MAN MENT, P50
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NR 28
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD JAN
PY 2014
VL 8
IS 1
BP 25
EP 30
DI 10.1016/j.rasd.2013.10.005
PG 6
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 276AL
UT WOS:000328720400004
ER
PT J
AU Segall, MJ
Campbell, JM
AF Segall, Matthew J.
Campbell, Jonathan M.
TI Factors influencing the educational placement of students with autism
spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Placement; Teacher attitudes
ID INCLUSIVE SETTINGS; SCHOOL PLACEMENT; CHILDREN; ATTITUDES; TEACHERS;
PREDICTORS; INTEGRATION; MAINSTREAM; CLASSROOMS
AB Due to legal and therapeutic reasons, children with autism spectrum disorders (ASD) are often educated in general education settings. As such, it is important to understand the variables that might affect a student's placement in inclusive education settings, simultaneously considering student variables (e.g., disability label) and teacher variables (e.g., knowledge of autism). Investigators experimentally manipulated the cognitive ability and diagnostic label of a student with ASD, characteristics and asked first grade teachers to provide their opinion on the student's educational placement. Results suggested that cognitive ability, but not label, significantly impacted decision making. The results hold important implications for special education decision making as well as training for educators. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Segall, Matthew J.] Emory Univ, Sch Med, Dept Psychiat & Behav Sci, Atlanta, GA 30322 USA.
[Campbell, Jonathan M.] Univ Kentucky, Dept Educ Sch & Counseling Psychol, Lexington, KY 40506 USA.
RP Segall, MJ (reprint author), Emory Univ, Sch Med, Dept Psychiat & Behav Sci, 1551 Shoup Court, Atlanta, GA 30322 USA.
EM mattsegall@emory.edu; jonathan.campbell@uky.edu
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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 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD JAN
PY 2014
VL 8
IS 1
BP 31
EP 43
DI 10.1016/j.rasd.2013.10.006
PG 13
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 276AL
UT WOS:000328720400005
ER
PT J
AU Doyle-Thomas, KAR
Card, D
Soorya, LV
Wang, AT
Fan, J
Anagnostou, E
AF Doyle-Thomas, Krissy A. R.
Card, Dallas
Soorya, Latha V.
Wang, A. Ting
Fan, Jin
Anagnostou, Evdokia
TI Metabolic mapping of deep brain structures and associations with
symptomatology in autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Magnetic resonance spectroscopy; Autism spectrum disorders; Deep gray
matter; Caudate nucleus; Putamen; Thalamus and social cognition
ID MAGNETIC-RESONANCE-SPECTROSCOPY; PROTON MR SPECTROSCOPY; BASAL GANGLIA;
ALZHEIMER-DISEASE; CLINICAL-APPLICATIONS; MULTIPLE-SCLEROSIS; STRIATUM;
TUMORS; DIAGNOSIS; NEUROPATHOLOGY
AB Structural neuroimaging studies in autism report atypical volume in deep brain structures which are related to symptomatology. Little is known about metabolic changes in these regions, and how they vary with age and sex, and/or relate to clinical behaviors. Using magnetic resonance spectroscopy we measured N-acetylaspartate, choline, creatine, myoinositol and glutamate in the caudate, putamen, and thalamus of 20 children with autism and 16 typically developing controls (7-18 years). Relative to controls, individuals with autism had elevated glutamate/creatine in the putamen. In addition, both groups showed age-related increases in glutamate in this region. Boys, relative to girls had increased choline/creatine in the thalamus. Lastly, there were correlations between glutamate, choline, and myoinositol in all three regions, and behavioral scores in the ASD group. These findings suggest changes in deep gray matter neurochemistry, which are sensitive to diagnosis, age and sex, and are associated with behavioral differences. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Doyle-Thomas, Krissy A. R.; Anagnostou, Evdokia] Univ Toronto, Holland Bloorview Kids Rehabil Hosp, Bloorview Res Inst, Toronto, ON M4G 1R8, Canada.
[Card, Dallas] Univ Toronto, Hosp Sick Children, Dept Diagnost Imaging, Toronto, ON M5G 1X8, Canada.
[Card, Dallas] Univ Toronto, Hosp Sick Children, Res Inst, Neurosci & Mental Hlth Program, Toronto, ON M5G 1X8, Canada.
[Soorya, Latha V.; Wang, A. Ting; Fan, Jin] Mt Sinai Sch Med, Dept Psychiat, New York, NY 10029 USA.
[Soorya, Latha V.; Wang, A. Ting; Fan, Jin] Mt Sinai Sch Med, Dept Neurosci, New York, NY 10029 USA.
[Fan, Jin] CUNY Queens Coll, Dept Psychol, Queens, NY 11367 USA.
RP Anagnostou, E (reprint author), Univ Toronto, Holland Bloorview Kids Rehabil Hosp, Bloorview Res Inst, 150 Kilgour Rd, Toronto, ON M4G 1R8, Canada.
EM kdoylethomas@hollandbloorview.ca; dallas.card@gmail.com;
latha.soorya@mssm.edu; ting.wang@mssm.edu; jin.fan@mssm.edu;
eanagnostou@hollandbloorview.ca
RI Fan, Jin/A-6716-2009
OI Fan, Jin/0000-0001-9630-8330
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Wechsler D., 2003, MANUAL WECHSLER INTE, VFourth
Zhu XP, 2006, ALZ DIS ASSOC DIS, V20, P77, DOI 10.1097/01.wad.0000213809.12553.fc
NR 46
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 JAN
PY 2014
VL 8
IS 1
BP 44
EP 51
DI 10.1016/j.rasd.2013.10.003
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 276AL
UT WOS:000328720400006
ER
PT J
AU Matson, JL
Williams, LW
AF Matson, Johnny L.
Williams, Lindsey W.
TI The making of a field: The development of comorbid psychopathology
research for persons with intellectual disabilities and autism
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Review
DE Comorbidity; Developmental disabilities; Intellectual disabilities;
Autism; Assessment
ID MENTALLY-RETARDED ADULTS; PAS-ADD CHECKLIST; SPECTRUM DISORDERS;
PSYCHIATRIC-DISORDERS; CHILDHOOD DEPRESSION; DIAGNOSTIC-ASSESSMENT;
BEHAVIOR CHECKLIST; DISABLED ADULTS; DASH-II; CHILDREN
AB Knowledge in the area of developmental disabilities has been expanding rapidly. One area that has received particular attention is the topic of related comorbid conditions. This phenomenon is not exclusive to the field of developmental disabilities. However, research with this population is of recent origin. The purpose of this paper is to review the origins of this field including some of the notable developments and potential future trends. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Matson, Johnny L.; Williams, Lindsey W.] Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
RP Williams, LW (reprint author), Louisiana State Univ, Dept Psychol, 236 Audubon Hall, Baton Rouge, LA 70803 USA.
EM johnmatson@aol.com; lindseywilliswilliams@gmail.com
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NR 56
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD JAN
PY 2014
VL 35
IS 1
BP 234
EP 238
DI 10.1016/j.ridd.2013.09.043
PG 5
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 270FI
UT WOS:000328303900026
PM 24269230
ER
PT J
AU Pozo, P
Sarria, E
AF Pozo, Pilar
Sarria, Encarnacion
TI A global model of stress in parents of individuals with autism spectrum
disorders (ASD)
SO ANALES DE PSICOLOGIA
LA English
DT Article
DE Autism spectrum disorders; double ABCX model; parental stress; behaviour
problems; severity of the disorder; sense of coherence; social support;
coping strategies
ID PERVASIVE DEVELOPMENTAL DISORDERS; CHILD SYMPTOM SEVERITY;
SCHOOL-AGE-CHILDREN; BEHAVIOR-PROBLEMS; PRESCHOOL-CHILDREN;
YOUNG-CHILDREN; DOWN-SYNDROME; COHERENCE SCALE; SOCIAL SUPPORT; FAMILY
STRESS
AB This research sought to analyse stress among mothers and fathers of individuals with autism spectrum disorders (ASD) to determine the relevant variables for its explanation and the possible gender differences. To examine parents' stress, we propose a multidimensional model based on the Double ABCX theoretical model. We argue that the result of stress depends on the following four interrelated factors: the characteristics of the individual with ASD (the severity of the disorder and behaviour problems), the social supports, the parents' perception of the situation (evaluated by sense of coherence) and the coping strategies. Fifty-nine sets of parents (59 mothers and 59 fathers) of individuals diagnosed with ASD participated in the study. The data were analysed using a path analysis through the LISREL 8.80 program. We obtained two empirical models of stress: one model for mothers and one for fathers. In both models, the severity of the disorder and the behaviour problems had a direct and positive effect on stress. The sense of coherence (SOC) and active avoidance coping strategies had a mediating role in models. Social support was relevant only for mothers. Finally, the results offer some guidelines for professionals working with families.
C1 [Pozo, Pilar; Sarria, Encarnacion] UNED, Madrid 28040, Spain.
RP Sarria, E (reprint author), UNED, Fac Psicol, C Juan del Rosal 10, Madrid 28040, Spain.
EM esarria@psi.uned.es
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NR 99
TC 0
Z9 0
PU UNIV MURCIA
PI MURCIA
PA SOC ESPANOLA HISTORIA AGRARIA, CAMPUS ESPINARDO, MURCIA, 30100, SPAIN
SN 0212-9728
EI 1695-2294
J9 AN PSICOL-SPAIN
JI An. Psicol.
PD JAN
PY 2014
VL 30
IS 1
BP 181
EP 192
DI 10.6018/analesps.30.1.140722
PG 12
WC Psychology; Psychology, Multidisciplinary
SC Psychology
GA 264YA
UT WOS:000327915700019
ER
PT J
AU Kotagiri, P
Chance, SA
Szele, FG
Esiri, MM
AF Kotagiri, Prasanti
Chance, Steven A.
Szele, Francis G.
Esiri, Margaret M.
TI Subventricular Zone Cytoarchitecture Changes in Autism
SO DEVELOPMENTAL NEUROBIOLOGY
LA English
DT Article
DE autism; subventricular zone; rostral migratory stream; adult
neurogenesis; septum
ID NEURAL STEM-CELLS; ADULT HUMAN BRAIN; OLFACTORY-BULB; HIPPOCAMPAL
NEUROGENESIS; CELLULAR COMPOSITION; STEM/PROGENITOR CELLS; NEURONAL
MIGRATION; MULTIPLE-SCLEROSIS; ALZHEIMERS-DISEASE; LATERAL VENTRICLE
AB Autism is thought to be a neurodevelopmental disorder with symptoms developing during neonatal neurogenesis in the subventricular zone (SVZ). Autism associated genes alter SVZ proliferation and cytoarchitecture, yet the response of the human SVZ in autism is unknown. Epilepsy drives neurogenesis in rodents, but it is unclear how epilepsy interacts with autism in SVZ responses. The striatal and septal SVZ derive from separate lineages in rodents and generate different interneuron types. Yet it is unclear if autism unevenly regulates the striatal and septal SVZ. The human SVZ was immunohistochemically examined post-mortem from individuals with autism (n = 11) and controls (n = 11). Autism showed a lower cell density in the septal, but not striatal, SVZ hypocellular gap only in the absence of epilepsy. There was a decline in septal hypocellular gap cells with age in autism, but no correlation with age in controls. In contrast, PCNA+ cell numbers increased only in autism with epilepsy both in the hypocellular gap and in the ependymal layer on the septal but not striatal side. Ependymal cells also became GFAP immunoreactive in autism irrespective of epilepsy co-morbidity; however, this only occurred on the striatal side. In examining these questions we also discovered a subset of ependymal, astrocyte ribbon and RMS cells which express PCNA and Ki67, PLP, and -tubulin. These results are the first example of a neuropsychiatric disease differentially affecting the septal and striatal SVZ. Altered cell density in the hypocellular gap and proliferation marker expression suggest individuals with autism may follow a different growth-trajectory. (c) 2013 Wiley Periodicals, Inc. Develop Neurobiol 74: 25-41, 2014
C1 [Kotagiri, Prasanti; Chance, Steven A.; Esiri, Margaret M.] Univ Oxford, Dept Neuropathol, Nuffield Dept Clin Neurosci, Oxford Univ Hosp, Oxford OX1 2JD, England.
[Kotagiri, Prasanti] Monash Univ, Dept Med Neurosci, Clayton, Vic 3800, Australia.
[Kotagiri, Prasanti] Royal Melbourne Hosp, Melbourne, Vic, Australia.
[Szele, Francis G.] Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 2JD, England.
RP Esiri, MM (reprint author), Univ Oxford, Dept Neuropathol, Nuffield Dept Clin Neurosci, Oxford Univ Hosp, Oxford OX1 2JD, England.
EM margaret.esiri@ndcn.ox.ac.uk
FU Oxford University; Monash University; National Institute of Health
Research via the Oxford Biomedical Centre; Autism Speaks; NIH; Simons
Foundation [NS-42253]
FX Contract grant sponsors: Oxford University and Monash
University.Contract grant sponsor: National Institute of Health Research
via the Oxford Biomedical Centre (to M.M.E.).Contract grant sponsor:
Autism Speaks (to S.A.C.).Contract grant sponsors: NIH (to F. G. S.) and
Simons Foundation; contract grant number: NS-42253.
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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 1932-8451
EI 1932-846X
J9 DEV NEUROBIOL
JI Dev. Neurobiol.
PD JAN
PY 2014
VL 74
IS 1
BP 25
EP 41
DI 10.1002/dneu.22127
PG 17
WC Developmental Biology; Neurosciences
SC Developmental Biology; Neurosciences & Neurology
GA 265KA
UT WOS:000327948800003
PM 24002902
ER
PT J
AU Howlin, P
Savage, S
Moss, P
Tempier, A
Rutter, M
AF Howlin, Patricia
Savage, Sarah
Moss, Philippa
Tempier, Althea
Rutter, Michael
TI Cognitive and language skills in adults with autism: a 40-year follow-up
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Autism spectrum disorders; adulthood
ID PERVASIVE DEVELOPMENTAL DISORDERS; HIGH-FUNCTIONING AUTISM; SPECTRUM
DISORDERS; ASPERGER-SYNDROME; DIAGNOSTIC INTERVIEW; INFANTILE-AUTISM;
CHILDREN; REGRESSION; PROFILES; AGE
AB BackgroundIt is well established that very few individuals with autism spectrum disorders (ASD) and an IQ below 70 are able to live independently as adults. However, even amongst children with an IQ in the normal range, outcome is very variable. Childhood factors that predict later stability, improvement or decline in cognitive functioning remain uncertain and, in particular, very little is known about trajectories in later adulthood.
MethodChanges in cognitive and language ability from childhood to adulthood were assessed in 60 individuals with autism, all of whom had an IQ in the average range as children. Mean age in childhood=6years (range 2-13years); mean age in adulthood=44years (range 29-64years). Trajectories of change and factors related to current cognitive abilities were explored.
ResultsFor the majority of participants (N=45, 75%), who were testable both as children and adults, IQ remained very stable and language also improved over time. However, 15 individuals could not be assessed on standard tests as adults and their developmental level could be estimated only on the Vineland Adaptive Behavior Scales. Almost all these adults (apart from one who had suffered a major stroke) showed severe aggressive or self-injurious behaviours; none had ever developed language above a 3-year level, and seven had developed epilepsy.
ConclusionsFor most individuals with autism who had an IQ in the average range (i.e. 70) as children, childhood IQ proved a reliable predictor of cognitive functioning well into mid- to- later adulthood. However, a significant minority was no longer testable on standard tests as adults. Their current very low levels of functional ability were generally associated with severe behavioural disturbance and persisting and severe language impairment; 50% of these individuals had also developed epilepsy, pointing to the role of organic brain dysfunction. Implications for early intervention are discussed.
C1 [Howlin, Patricia; Savage, Sarah; Moss, Philippa; Tempier, Althea] Inst Psychiat, Dept Psychol, London, England.
[Howlin, Patricia] Univ Sydney, Fac Hlth Sci, Sydney, NSW 2006, Australia.
[Rutter, Michael] Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London, England.
RP Howlin, P (reprint author), Kings Coll London, Inst Psychiat, Dept Psychol, Henry Wellcome Bldg,De Crespigny Pk, London SE5 8AF, England.
EM patricia.howlin@kcl.ac.uk
RI Howlin, Patricia/A-7622-2011
FU Nuffield Foundation
FX We thank the Nuffield Foundation for funding this research. We are most
grateful to the individuals with autism and their families or carers who
gave so generously of their time during the course of the study. We are
also grateful to the National Autistic Society, and in particular Mr.
Richard Mills, Research.
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NR 69
TC 9
Z9 9
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 JAN
PY 2014
VL 55
IS 1
BP 49
EP 58
DI 10.1111/jcpp.12115
PG 10
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA 269MW
UT WOS:000328246400007
PM 23848399
ER
PT J
AU Baird, G
AF Baird, Gillian
TI Commentary: Diverging trajectories from a similar starting point: the
outcome in adults whose autism was diagnosed in childhood - reflections
on Howlin et al. (2013)
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Editorial Material
AB Howlin and colleagues are to be congratulated on a further follow up from the cohort of children first diagnosed by Rutter at the age of 2-13years nearly 40years ago (Howlin, Savage, Moss, Tempier, & Rutter, 2013).
C1 [Baird, Gillian] Guys & St Thomas NHS Fdn Trust, Guys Hosp, Newcomen Ctr, London, England.
[Baird, Gillian] Kings Hlth Partners, London, England.
RP Baird, G (reprint author), Guys Hosp, Newcomen Ctr, London SE1 9RT, England.
EM gillian.baird@gstt.nhs.uk
CR Boltor PF, 2011, BRIT J PSYCHIAT, V198, P289, DOI 10.1192/bjp.bp.109.076877
Gillberg C, 2010, J AUTISM DEV DISORD, V40, P352, DOI 10.1007/s10803-009-0883-4
Howlin P, 2012, CAN J PSYCHIAT, V57, P275
Howlin P., 2013, J CHILD PSYCHOL PSYC, V55, P49
Howlin P, 2013, J AM ACAD CHILD PSY, V52, P572, DOI 10.1016/j.jaac.2013.02.017
National Institute for Health and Care Excellence, 2012, AUT REC REF DIAGN MA
National Institute for Health and Care Excellence, 2013, AUT MAN SUPP CHILDR
NR 7
TC 0
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 JAN
PY 2014
VL 55
IS 1
BP 59
EP 60
DI 10.1111/jcpp.12182
PG 2
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA 269MW
UT WOS:000328246400008
PM 24329890
ER
PT J
AU Skoglund, C
Chen, Q
D'Onofrio, BM
Lichtenstein, P
Larsson, H
AF Skoglund, Charlotte
Chen, Qi
D'Onofrio, Brian M.
Lichtenstein, Paul
Larsson, Henrik
TI Familial confounding of the association between maternal smoking during
pregnancy and ADHD in offspring
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Maternal smoking during pregnancy; attention-deficit/hyperactivity
disorder; confounding; sibling comparisons
ID DEFICIT HYPERACTIVITY DISORDER; CIGARETTE-SMOKING; RISK-FACTORS;
TELEPHONE INTERVIEW; PATERNAL SMOKING; CHILD OUTCOMES; SUBSTANCE USE;
AUTISM-TICS; A-TAC; SYMPTOMS
AB BackgroundMaternal Smoking During Pregnancy (SDP) has consistently been associated with increased risk of attention-deficit/hyperactivity disorder (ADHD) in offspring, but recent studies indicate that this association might be due to unmeasured familial confounding.
MethodsA total of 813,030 individuals born in Sweden between 1992 and 2000 were included in this nationwide population-based cohort study. Data on maternal SDP and ADHD diagnosis were obtained from national registers and patients were followed up from the age of 3 to the end of 2009. Hazard Ratios (HRs) were estimated using stratified Cox regression models. Cousin and sibling data were used to control for unmeasured familial confounding.
ResultsAt the population level maternal SDP predicted ADHD in offspring (HRModerateSDP=1.89; HRHighSDP=2.50). This estimate gradually attenuated toward the null when adjusting for measured confounders (HRModerateSDP=1.62; HRHighSDP=2.04), unmeasured confounders shared within the extended family (i.e., cousin comparison) (HRModerateSDP=1.45; HRHighSDP=1.69), and unmeasured confounders within the nuclear family (i.e., sibling comparison) (HRModerateSDP=0.88; HRHighSDP=0.84).
ConclusionsOur results suggest that the association between maternal SDP and offspring ADHD are due to unmeasured familial confounding.
C1 [Skoglund, Charlotte] Karolinska Inst, Dept Clin Neurosci, SE-17176 Stockholm, Sweden.
[Chen, Qi; Lichtenstein, Paul; Larsson, Henrik] Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17176 Stockholm, Sweden.
[D'Onofrio, Brian M.] Indiana Univ, Dept Psychol & Brain Sci, Bloomington, IN USA.
RP Skoglund, C (reprint author), Karolinska Inst, Dept Clin Neurosci, Adm Z5 00, SE-17176 Stockholm, Sweden.
EM charlotte.skoglund@sll.se
FU Stockholm County Council [K1426-2011]; Karolinska Institute
[K1426-2011]; Swedish Council for Working Life and Social Research;
Swedish Research Council [2010-3184, 2011-2492]; National Institute of
Child Health and Human Development, NICHD [HD061817]
FX Financial support was provided through the regional agreement on medical
training and clinical research (K1426-2011) between Stockholm County
Council and Karolinska Institute, through grants from the Swedish
Council for Working Life and Social Research, Swedish Research Council
(2010-3184; 2011-2492) and from the National Institute of Child Health
and Human Development, NICHD (HD061817).
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Wettermark B, 2007, PHARMACOEPIDEM DR S, V16, P726, DOI 10.1002/pds.1294
NR 41
TC 0
Z9 0
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 JAN
PY 2014
VL 55
IS 1
BP 61
EP 68
DI 10.1111/jcpp.12124
PG 8
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA 269MW
UT WOS:000328246400009
PM 25359172
ER
PT J
AU Zaidman-Zait, A
AF Zaidman-Zait, Anat
TI An item response theory analysis of the Parenting Stress Index-Short
Form with parents of children with autism spectrum disorders (vol 51, pg
1269, 2010)
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Correction
CR Zaidman-Zait A, 2010, J CHILD PSYCHOL PSYC, V51, P1269, DOI 10.1111/j.1469-7610.2010.02266.x
NR 1
TC 0
Z9 0
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 JAN
PY 2014
VL 55
IS 1
BP 96
EP 96
DI 10.1111/jcpp.12191
PG 1
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA 269MW
UT WOS:000328246400013
ER
PT J
AU Kennedy, MJ
Thomas, CN
Aronin, S
Newton, JR
Lloyd, JW
AF Kennedy, Michael J.
Thomas, Cathy Newman
Aronin, Sara
Newton, Jennifer R.
Lloyd, John Wills
TI Improving teacher candidate knowledge using content acquisition podcasts
SO COMPUTERS & EDUCATION
LA English
DT Article
DE Technology; Theory; Teacher education; Podcasting; Disability
ID HIGHER-EDUCATION; INSTRUCTION; DESIGN; TECHNOLOGY; DISCOVERY
AB There are many open questions with respect to theory and empirical support for methods used in college teaching, especially when technology is incorporated into instruction. In this article, we report the results of a study of a multimedia-based instructional tool called Content Acquisition Podcasts (CAPs) that provides university instructors with a tool that is grounded in applied theory and has advanced through several iterations of developmental and experimental testing as suggested by Clark (2009). CAPs are a form of enhanced podcasts (still images synchronized with audio) that incorporate Mayer's cognitive theory of multimedia learning (2009), and accompanying instructional design principles (2008) to ensure the looks and sounds of instruction do not overwhelm the limitations of users' cognitive processes. This article reports data from one of the first five experimental tests of CAPs in which undergraduate teacher candidates received instruction related to content from an introductory course in special education. In this study, teacher candidates from two universities were randomly assigned either to watch a CAP or read a textbook chapter containing the same content for two topics: characteristics of students with learning disabilities or high-functioning autism. We employed a pretest-posttest-maintenance design to evaluate participant performance on dependent measures of knowledge. Results indicate that when participants learned with CAPs, they had significantly higher scores on content-knowledge tests at both posttest and maintenance assessments than when they studied via the usual text-based materials. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Kennedy, Michael J.; Lloyd, John Wills] Univ Virginia, Curry Sch Educ, Dept Curriculum Instruct & Special Educ, Charlottesville, VA 22904 USA.
[Thomas, Cathy Newman] Univ Missouri, Columbia, MO 65211 USA.
[Aronin, Sara] W Virginia Univ, Morgantown, WV 26506 USA.
[Newton, Jennifer R.] James Madison Univ, Harrisonburg, VA USA.
RP Kennedy, MJ (reprint author), Univ Virginia, Curry Sch Educ, Dept Curriculum Instruct & Special Educ, Bavaro Hall Room 327,POB 400273, Charlottesville, VA 22904 USA.
EM Mkennedy@Virginia.edu; ThomasCat@Missouri.edu; Sara.Aronin@mail.wvu.edu;
NewtonJr@jmu.edu; JohnL@Virginia.edu
CR American Educational Research Association American Psychological Association & National Council on Measurement in Education, 1999, STAND ED PSYCH TEST
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Bryant D. P., 2008, TEACHING STUDENTS SP
Bushaw WJ, 2009, PHI DELTA KAPPAN, V91, P9
Chalmers R. P., 2012, J STAT SOFTWARE, V48
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Wu WH, 2012, COMPUT EDUC, V59, P817, DOI 10.1016/j.compedu.2012.03.016
NR 48
TC 4
Z9 4
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0360-1315
EI 1873-782X
J9 COMPUT EDUC
JI Comput. Educ.
PD JAN
PY 2014
VL 70
BP 116
EP 127
DI 10.1016/j.compedu.2013.08.010
PG 12
WC Computer Science, Interdisciplinary Applications; Education &
Educational Research
SC Computer Science; Education & Educational Research
GA 246QL
UT WOS:000326554100011
ER
PT J
AU Volk, HE
Kerin, T
Lurmann, F
Hertz-Picciotto, I
McConnell, R
Campbell, DB
AF Volk, Heather E.
Kerin, Tara
Lurmann, Fred
Hertz-Picciotto, Irva
McConnell, Rob
Campbell, Daniel B.
TI Autism Spectrum Disorder Interaction of Air Pollution with the MET
Receptor Tyrosine Kinase Gene
SO EPIDEMIOLOGY
LA English
DT Article
ID AROMATIC-HYDROCARBON EXPOSURE; VARIANT; CHARGE
AB Background: Independent studies report association of autism spectrum disorder with air pollution exposure and a functional promoter variant (rs1858830) in the MET receptor tyrosine kinase (MET) gene. Toxicological data find altered brain Met expression in mice after prenatal exposure to a model air pollutant. Our objective was to investigate whether air pollution exposure and MET rs1858830 genotype interact to alter the risk of autism spectrum disorder.
Methods: We studied 252 cases of autism spectrum disorder and 156 typically developing controls from the Childhood Autism Risk from Genetics and the Environment Study. Air pollution exposure was assigned for local traffic-related sources and regional sources (particulate matter, nitrogen dioxide, and ozone). MET genotype was determined by direct resequencing.
Results: Subjects with both MET rs1858830 CC genotype and high air pollutant exposures were at increased risk of autism spectrum disorder compared with subjects who had both the CG/GG genotypes and lower air pollutant exposures. There was evidence of multiplicative interaction between NO2 and MET CC genotype (P= 0.03).
Conclusions:MET rs1858830 CC genotype and air pollutant exposure may interact to increase the risk of autism spectrum disorder.
C1 [Volk, Heather E.; Kerin, Tara; McConnell, Rob] Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90089 USA.
[Volk, Heather E.] Univ So Calif, Childrens Hosp Los Angeles, Dept Pediat, Los Angeles, CA 90089 USA.
[Volk, Heather E.; Campbell, Daniel B.] Univ So Calif, Keck Sch Med, Zilkha Neurogenet Inst, Los Angeles, CA 90089 USA.
[Lurmann, Fred] Sonoma Technol Inc, Petaluma, CA USA.
[Hertz-Picciotto, Irva] Univ Calif Davis, Dept Publ Hlth Sci, Davis, CA 95616 USA.
[Campbell, Daniel B.] Univ So Calif, Keck Sch Med, Dept Psychiat & Behav Sci, Los Angeles, CA 90089 USA.
[Campbell, Daniel B.] Univ So Calif, Keck Sch Med, Ctr Genom Psychiat, Los Angeles, CA 90089 USA.
RP Volk, HE (reprint author), Univ So Calif, 2001 N Soto St,MC 9237, Los Angeles, CA 90089 USA.
EM hvolk@usc.edu
FU South Coast Air Quality Management District, a California state
regulatory agency; BP; Autism Speaks; NIEHS [ES019002, ES013578,
ES007048, ES11269, ES015359, ES016535, ES011627]; EPA Star-R [823392,
833292]; MIND Institute
FX F.L. is an employee of Sonoma Technology Inc., Petaluma, CA. R.M.C.
received support from an air quality violations settlement agreement
between the South Coast Air Quality Management District, a California
state regulatory agency, and BP. H. E. V. received travel funds from
Autism Speaks to present a paper at an academic conference. The other
authors declare no competing financial interests.Supported by NIEHS;
ES019002, ES013578, ES007048, ES11269, ES015359, ES016535, and ES011627;
EPA Star-R; 823392, 833292; and MIND Institute matching funds and pilot
grant program.
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NR 12
TC 7
Z9 8
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 1044-3983
EI 1531-5487
J9 EPIDEMIOLOGY
JI Epidemiology
PD JAN
PY 2014
VL 25
IS 1
BP 44
EP 47
DI 10.1097/EDE.0000000000000030
PG 4
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA 268XW
UT WOS:000328205200010
PM 24240654
ER
PT J
AU Suren, P
Stoltenberg, C
Bresnahan, M
AF Suren, P.
Stoltenberg, C.
Bresnahan, M.
TI Early Growth Patterns in Children with Autism (vol 24, pg 660, 2013)
SO EPIDEMIOLOGY
LA English
DT Correction
CR Hernan MA, 2006, EPIDEMIOLOGY, V17, P360, DOI 10.1097/01.ede.0000222409.00878.37
Suren P, 2013, EPIDEMIOLOGY, V24, P660, DOI 10.1097/EDE.0b013e31829e1d45
NR 2
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 1044-3983
EI 1531-5487
J9 EPIDEMIOLOGY
JI Epidemiology
PD JAN
PY 2014
VL 25
IS 1
BP 164
EP 164
DI 10.1097/EDE.0000000000000035
PG 1
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA 268XW
UT WOS:000328205200036
ER
PT J
AU Yang, Y
Li, H
Ward, R
Gao, LH
Wei, JF
Xu, TR
AF Yang, Yang
Li, Hao
Ward, Richard
Gao, Linghuan
Wei, Ji-Fu
Xu, Tian-Rui
TI Novel oxytocin receptor agonists and antagonists: a patent review
(2002-2013)
SO EXPERT OPINION ON THERAPEUTIC PATENTS
LA English
DT Review
DE agonists; antagonists; arginine vasopressin; oxytocin; oxytocin receptor
ID POSTPARTUM HEMORRHAGE; ARGININE-VASOPRESSIN; RANDOMIZED-TRIAL;
CESAREAN-SECTION; CARBETOCIN; KNOCKOUT; BEHAVIOR; BRAIN; EXPRESSION;
ANALOGS
AB Introduction: Oxytocin is a nine amino acid cyclic peptide hormone with a high degree of uterotonic activity. The oxytocin receptor (Oxtr) is most strongly expressed in the uterus and mammary gland, but can also be found in regions of the brain, showing a neurotransmitter-like activity. The Oxtr knockout mice have no obvious defects in fertility or sexual behavior, but display aberrant social behavior. All of these suggest that Oxtr may become an important therapeutic target for the treatment of a wide range of conditions.
Areas covered: This article will highlight the significant progress that has been made in the discovery and development of Oxtr agonists and antagonists in the patent literature between January 2002 and May 2013.
Expert opinion: In the past decade, cumulative evidence supports the idea that activation of the Oxtr can have a positive effect upon human cognition and social behavior. The authors suggest that new agonists and antagonists may play an important role in the treatment of disorders such as anxiety, autism or schizophrenia. It may even be that older Oxtr agonists and antagonists, which were used to overcome labor-related dysfunction, may also have a significant impact on human social behavior.
C1 [Yang, Yang; Gao, Linghuan; Xu, Tian-Rui] Kunming Univ Sci & Technol, Fac Life Sci & Technol, Kunming 650500, Yunnan, Peoples R China.
[Li, Hao; Wei, Ji-Fu] Nanjing Med Univ, Affiliated Hosp 1, Res Div Clin Pharmacol, Nanjing 210029, Jiangsu, Peoples R China.
[Ward, Richard] Univ Glasgow, Coll Med Vet & Life Sci, Mol Pharmacol Grp, Inst Mol Cell & Syst Biol, Glasgow G12 8QQ, Lanark, Scotland.
RP Xu, TR (reprint author), Kunming Univ Sci & Technol, Fac Life Sci & Technol, Kunming 650500, Yunnan, Peoples R China.
EM xtrgfq@homail.com
FU High-End Talent Grant of Yunnan Province, China [2012HA008]; Priority
Academic Program Development of Jiangsu Higher Education Institutions
[2011ZX09302-003-02]; [KKSY201226129]
FX This work was funded by High-End Talent Grant of Yunnan Province, China
(2012HA008), program KKSY201226129 awarded to T. X and the Priority
Academic Program Development of Jiangsu Higher Education Institutions
(2011ZX09302-003-02).
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NR 109
TC 1
Z9 2
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1354-3776
EI 1744-7674
J9 EXPERT OPIN THER PAT
JI Expert Opin. Ther. Patents
PD JAN
PY 2014
VL 24
IS 1
BP 29
EP 46
DI 10.1517/13543776.2014.845168
PG 18
WC Chemistry, Medicinal; Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA 268VF
UT WOS:000328198000004
PM 24094047
ER
PT J
AU Memari, AH
Ghanouni, P
Shayestehfar, M
Ziaee, V
Moshayedi, P
AF Memari, Amir Hossein
Ghanouni, Parisa
Shayestehfar, Monir
Ziaee, Vahid
Moshayedi, Pouria
TI Effects of visual search vs. auditory tasks on postural control in
children with autism spectrum disorder
SO GAIT & POSTURE
LA English
DT Article
DE Autism spectrum disorder; Auditory task; Children; Postural control;
Visual task
ID CONCURRENT COGNITIVE TASK; ATTENTIONAL DEMANDS; COORDINATION; INCREASES;
GAIT; SWAY
AB Recent research in motor control shows the interactive role of cognitive factors in postural control. However, there is little understanding in how children with autism spectrum disorder (ASD) develop their postural behaviors. This study compares the interference of visual or auditory tasks on postural control in children with ASD. We examined 19 children with ASD (10-15 years old) and also 28 age-matched typically developing (TD) children. They were asked to perform two tasks during postural control: (1) a visual searching task (2) an auditory digit span task. Postural performances were measured with a force platform. Results showed that children with ASD indicated higher postural sway scores in visual task vs. auditory task; as root mean square (p = 0.04), mean velocity (p = 0.01) and sway area (p = 0.02) but TD children scores remained unchanged. Children with ASD also showed significantly higher sway scores than TD children in all parameters. We conclude that in addition to primary differences in patterns of postural control of children with ASD compared to TD children, visual and auditory tasks may differently influence the postural control in this population. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Memari, Amir Hossein] Univ Tehran Med Sci, Sports Med Res Ctr, Inst Neurosci, Tehran, Iran.
[Ghanouni, Parisa; Shayestehfar, Monir] Shahid Beheshti Univ Med Sci, Rehabil Ctr, Tehran, Iran.
[Ziaee, Vahid] Univ Tehran Med Sci, Growth & Dev Res Ctr, Tehran, Iran.
[Moshayedi, Pouria] Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Los Angeles, CA 90095 USA.
RP Memari, AH (reprint author), Univ Tehran Med Sci, Sports Med Res Ctr, Inst Neurosci, 7 Al E Ahmad Highway,POB 14395-578, Tehran, Iran.
EM amirmemari@farabi.tums.ac.ir
CR Bigelow KE, 2008, IDENTIFICATION KEY T
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NR 29
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0966-6362
EI 1879-2219
J9 GAIT POSTURE
JI Gait Posture
PD JAN
PY 2014
VL 39
IS 1
BP 229
EP 234
DI 10.1016/j.gaitpost.2013.07.012
PG 6
WC Neurosciences; Orthopedics; Sport Sciences
SC Neurosciences & Neurology; Orthopedics; Sport Sciences
GA 259QS
UT WOS:000327542000040
PM 23931847
ER
PT J
AU Fournier, KA
Amano, S
Radonovich, KJ
Bleser, TM
Hass, CJ
AF Fournier, Kimberly A.
Amano, Shinichi
Radonovich, Krestin J.
Bleser, Tana M.
Hass, Chris J.
TI Decreased dynamical complexity during quiet stance in children with
Autism Spectrum Disorders
SO GAIT & POSTURE
LA English
DT Article
DE Autism Spectrum Disorders (ASD); Center of pressure (COP); Multiscale
entropy (MSE); Posture; Nonlinear
ID POSTURAL CONTROL; APPROXIMATE ENTROPY; MOVEMENT-DISORDERS;
PARKINSONS-DISEASE; HEALTHY-YOUNG; ADULTS; PERFORMANCE; STABILITY;
BALANCE; TASK
AB Background: Postural control deficits in individuals with Autism Spectrum Disorders (ASD) are widely acknowledged; however, the underlying biomechanical features of these deficits remain unknown. Nonlinear analyses provide insight into the nature of how movement is controlled and have the potential to provide new insight into the postural control abnormalities associated with ASD. The purpose of this study was to further investigate postural control deficits in children with ASD through linear and nonlinear analyses of center of pressure (COP) data.
Methods: We evaluated COP data during quiet standing for 16 children with ASD and 17 age-matched typically developing (TD) children. The magnitude of COP fluctuations (COP ranges, velocity, and sway area) and complexity of postural control dynamics, quantified by multiscale entropy (MSE), were compared across groups.
Results: Children with ASD displayed larger fluctuations in their COP data, observed in COP ranges (95.5% mediolaterally and 46.9% anteroposteriorly, p < 0.05 respectively) and COP sway area (885%, p < 0.05). Children with ASD also displayed less complexity in their COP data, observed in the MSE complexity index (CI) (32.4% mediolaterally and 35.7% anteroposteriorly, p < 0.05 respectively).
Conclusions: The present study successfully revealed that children with ASD have more repetitive patterns in their COP data, indicating a less complex control of posture, on multiple time scales, during quiet stance. These findings suggest a more regular or restricted control of posture and may be an initial step in linking postural instability to stereotypic behavior and the neurobiology of ASD. Published by Elsevier B.V.
C1 [Fournier, Kimberly A.] Univ Rhode Isl, Dept Kinesiol, Kingston, RI 02881 USA.
[Amano, Shinichi; Hass, Chris J.] Univ Florida, Dept Appl Physiol & Kinesiol, Gainesville, FL USA.
[Radonovich, Krestin J.] Univ Florida, Dept Pediat, Gainesville, FL USA.
[Bleser, Tana M.] Univ Florida, Dept Psychol, Gainesville, FL 32611 USA.
RP Fournier, KA (reprint author), Univ Rhode Isl, Dept Kinesiol, Kingston, RI 02881 USA.
EM kimfournier@mail.uri.edu
RI Fournier, Kimberly/E-5052-2013
OI Fournier, Kimberly/0000-0001-5830-6131
FU Autism Speaks [1964/01-201007-065-00-00-01]
FX This study was supported in part by Autism Speaks
(#1964/01-201007-065-00-00-01). The content of this manuscript is solely
the responsibility of the authors and does not necessarily represent the
official views of Autism Speaks.
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NR 30
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0966-6362
EI 1879-2219
J9 GAIT POSTURE
JI Gait Posture
PD JAN
PY 2014
VL 39
IS 1
BP 420
EP 423
DI 10.1016/j.gaitpost.2013.08.016
PG 4
WC Neurosciences; Orthopedics; Sport Sciences
SC Neurosciences & Neurology; Orthopedics; Sport Sciences
GA 259QS
UT WOS:000327542000071
PM 24055002
ER
PT J
AU Freitag, CM
Petermann, F
AF Freitag, Christine M.
Petermann, Franz
TI Autism spectrum disorders
SO KINDHEIT UND ENTWICKLUNG
LA German
DT Article
DE Asperger syndrome; aetiology; autism spectrum disorder; diagnostic
criteria; therapy
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; TRAINING SOSTA-FRA;
ASPERGER-SYNDROME; CHILDREN; ADOLESCENTS; PREVALENCE; SYMPTOMS;
LANGUAGE; INTERVENTIONS; EPIDEMIOLOGY
AB Over the past years, there has been a significant increase in the diagnosis of autism spectrum disorders (ASD). In addition, an increasing variety of comorbid disorders (i.e., ADHD, anxiety disorders) have been discussed. The differential diagnosis with regard to other psychiatric disorders is complex. Psycho-social risk factors are not relevant in ASD etiology, but genetic and other biological risk factors are important. Early and intensive therapy approaches (mainly behavior therapy) play a central role in the treatment of autism disorders.
C1 [Freitag, Christine M.] Goethe Univ Frankfurt, Klin Psychiat Psychosomat & Psychotherapie Kindes, Univ Klinikum, D-60528 Frankfurt, Germany.
[Petermann, Franz] Univ Bremen, Zentrum Klin Psychol & Rehabil, D-28359 Bremen, Germany.
RP Freitag, CM (reprint author), Goethe Univ Frankfurt, Klin Psychiat Psychosomat & Psychotherapie Kindes, Univ Klinikum, Deutschordenstr 50, D-60528 Frankfurt, Germany.
EM c.freitag@em.uni-frankfurt.de; fpeterm@uni-bremen.de
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NR 35
TC 0
Z9 0
PU HOGREFE & HUBER PUBLISHERS
PI GOTTINGEN
PA ROHNSWEG 25, D-37085 GOTTINGEN, GERMANY
SN 0942-5403
EI 2190-6246
J9 KINDH ENTWICKL
JI Kindh. Entwickl.
PY 2014
VL 23
IS 1
BP 1
EP 4
DI 10.1026/0942-5403/a000132
PG 4
WC Psychology, Developmental
SC Psychology
GA 268SP
UT WOS:000328191100001
ER
PT J
AU Schwenck, C
Ciaramidaro, A
AF Schwenck, Christina
Ciaramidaro, Angela
TI Social cognition in autism spectrum disorder and conduct disorder
SO KINDHEIT UND ENTWICKLUNG
LA German
DT Article
DE autism; conduct disorder; social cognition; theory of mind; emotion
recognition; mimicry; attention
ID EMOTIONAL FACIAL EXPRESSIONS; DISRUPTIVE BEHAVIOR DISORDERS;
CALLOUS-UNEMOTIONAL TRAITS; AMYGDALA RESPONSE; NEURAL BASIS; ATYPICAL
DEVELOPMENT; AFFECT RECOGNITION; ASPERGER-SYNDROME; EYE CONTACT; GAZE
SHIFTS
AB Social cognition comprises different aspects of implicit and explicit information processing which take place during social interaction, e. g., implicit attention on social stimuli, emotion recognition, or theory of mind. Deficits in social cognition are associated with disorders that contain symptoms of social interaction deficits, including autism spectrum disorder (ASD) and conduct disorder (CD). This review gives an overview of the current literature on different aspects of social cognition in ASD and CD focusing on behavioral and fMRI studies.
C1 [Schwenck, Christina; Ciaramidaro, Angela] Goethe Univ Frankfurt, Klin Psychiat Psychosomat & Psychotherapie Kindes, D-60528 Frankfurt, Germany.
RP Schwenck, C (reprint author), Goethe Univ Frankfurt, Klin Psychiat Psychosomat & Psychotherapie Kindes, Deutschordenstr 50, D-60528 Frankfurt, Germany.
EM christina.schwenck@kgu.de
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NR 83
TC 1
Z9 1
PU HOGREFE & HUBER PUBLISHERS
PI GOTTINGEN
PA ROHNSWEG 25, D-37085 GOTTINGEN, GERMANY
SN 0942-5403
EI 2190-6246
J9 KINDH ENTWICKL
JI Kindh. Entwickl.
PY 2014
VL 23
IS 1
BP 5
EP 12
DI 10.1026/0942-5403/a000125
PG 8
WC Psychology, Developmental
SC Psychology
GA 268SP
UT WOS:000328191100002
ER
PT J
AU Weiss, EM
Gschaidbauer, B
Kaufmann, L
Papousek, I
Fink, A
AF Weiss, Elisabeth M.
Gschaidbauer, Bianca
Kaufmann, Liane
Papousek, Ilona
Fink, Andreas
TI Creativity in children and adolescents with Asperger syndrome
SO KINDHEIT UND ENTWICKLUNG
LA German
DT Article
DE creativity; Asperger syndrome; autism; age effects; Torrance tests of
creative thinking (TTCT); 5-point test
ID DIAGNOSTIC OBSERVATION SCHEDULE; AUTISM SPECTRUM DISORDERS; EXECUTIVE
FUNCTION; PRETEND PLAY; MENTAL-ILLNESS; GERMAN FORM; PERFORMANCE;
FLUENCY; GENERATIVITY; INDIVIDUALS
AB The aim of the present study was the systematic investigation of creativity in 5 to 14-year-old children/adolescents with Asperger syndrome compared to typically developing controls (each n = 24). Both quantitative (ideational fluency and flexibility) and qualitative creativity aspects (originality of generated ideas) in two age groups (5 to 9 year olds vs. 10 to 14 year olds) were examined. Our findings revealed that children/adolescents with Asperger syndrome compared with controls displayed impaired performance only on quantitative creativity aspects (i.e., ideational fluency and flexibility as indexed by the 5-point test) while more qualitative aspects of creativity were largely unimpaired (i.e., originality as indexed by the picture completion subtest of the Torrance tests of creative thinking [TTCT]). Moreover, age effects were significant in both groups (younger children performing worse) but were comparable across groups. Overall, our results are novel and clinically important as they indicate that creativity assessments of Asperger syndrome should include both quantitative and qualitative aspects of creativity.
C1 [Weiss, Elisabeth M.; Gschaidbauer, Bianca; Papousek, Ilona; Fink, Andreas] Karl Franzens Univ Graz, Inst Psychol, Abt Biol Psychol, A-8010 Graz, Austria.
RP Weiss, EM (reprint author), Karl Franzens Univ Graz, Inst Psychol, Abt Biol Psychol, Univ Pl 2-3, A-8010 Graz, Austria.
EM e.weiss@uni-graz.at
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Weiss R. H., 1997, GRUNDINTELLIGENZTEST
NR 60
TC 1
Z9 1
PU HOGREFE & HUBER PUBLISHERS
PI GOTTINGEN
PA ROHNSWEG 25, D-37085 GOTTINGEN, GERMANY
SN 0942-5403
EI 2190-6246
J9 KINDH ENTWICKL
JI Kindh. Entwickl.
PY 2014
VL 23
IS 1
BP 13
EP 22
DI 10.1026/0942-5403/a000126
PG 10
WC Psychology, Developmental
SC Psychology
GA 268SP
UT WOS:000328191100003
ER
PT J
AU Sinzig, J
Vinzelberg, I
Bell, H
Quirmbach, L
AF Sinzig, Judith
Vinzelberg, Isabella
Bell, Hannah
Quirmbach, Linda
TI Special characteristics in the multiaxial classification, developmental
history, and psychopathology in children and adolescents with autism
spectrum disorder and attention-deficit/hyperactivity disorder
SO KINDHEIT UND ENTWICKLUNG
LA German
DT Article
DE ADHD; developmental history; autism spectrumd isorder; MAS;
psychopathology
ID DEFICIT HYPERACTIVITY DISORDER; DOPAMINE TRANSPORTER GENOTYPE;
PSYCHIATRIC-DISORDERS; PARENTING STRESS; EXPOSURE; MOTHERS;
ASSOCIATIONS; COMORBIDITY; SYMPTOMS; TODDLERS
AB The aim of the current study was to compare the ICD-10 multiaxial classification scheme (MAS), developmental history, and psychopathology in children with autism spectrum disorder (ASD) with or without attention-deficit/hyperactivity disorder (ADHD. A total of 120 patients were included in the study (ASD: n = 60; ASD + ADHD: n = 60). Data were obtained from each child's developmental history, family history, the MAS, and diagnostic measures (MBAS, FSK, SRS, CBCL). In the group ASD + ADHD, mothers consumed more toxic substances during pregnancy than in the ASD group. In both ASD and ASD+ ADHD, fathers tended to be employed in an academic or technical setting. In the questionnaires an increased rate of external psychopathological symptoms was found in ASD + ADHD. In summary, patients with ASD and comorbid ADHS demonstrated a higher rate of comorbid psychopathology than reported in previous studies. This result should be taken into account in diagnostics and therapy.
C1 [Sinzig, Judith; Vinzelberg, Isabella; Bell, Hannah; Quirmbach, Linda] LVR Klin Bonn, Abt Kinder & Jugendpsychiat Psychosomat & Psychot, D-53111 Bonn, Germany.
RP Sinzig, J (reprint author), LVR Klin Bonn, Abt Kinder & Jugendpsychiat Psychosomat & Psychot, Kaiser Karl Ring 20, D-53111 Bonn, Germany.
EM judith.sinzig@lvr.de
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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Weiss R., 2006, 20R CFT
NR 55
TC 1
Z9 1
PU HOGREFE & HUBER PUBLISHERS
PI GOTTINGEN
PA ROHNSWEG 25, D-37085 GOTTINGEN, GERMANY
SN 0942-5403
EI 2190-6246
J9 KINDH ENTWICKL
JI Kindh. Entwickl.
PY 2014
VL 23
IS 1
BP 23
EP 33
DI 10.1026/0942-5403/a000127
PG 11
WC Psychology, Developmental
SC Psychology
GA 268SP
UT WOS:000328191100004
ER
PT J
AU Kitzerow, J
Wilker, C
Teufel, K
Soll, S
Schneider, M
Westerwald, E
Sachse, M
Marinovic, V
Berndt, K
Valerian, J
Feineis-Matthews, S
Freitag, CM
AF Kitzerow, Janina
Wilker, Christian
Teufel, Karoline
Soll, Sophie
Schneider, Monika
Westerwald, Eva
Sachse, Michael
Marinovic, Vesna
Berndt, Kerstin
Valerian, Jennifer
Feineis-Matthews, Sabine
Freitag, Christine M.
TI Frankfurt Early Intervention Program (FFIP) for preschoolers with Autism
Spectrum Disorders (ASD): First results for language development
SO KINDHEIT UND ENTWICKLUNG
LA German
DT Article
DE autism; early intervention; behavior therapy; language development
ID YOUNG-CHILDREN; BEHAVIORAL INTERVENTIONS
AB Autism spectrum disorders (ASD) are heterogeneous and persistent developmental disorders. Over the last decades, various therapeutic approaches for early intervention have been developed. The aim of our study was to evaluate the therapeutic effects of the Frankfurt Early Intervention Program (FFIP), a behavioral approach with a natural learning format in which individual and group therapy (2 hrs/week) is combined with intensive parental work. After the first year of therapy, significant acceleration of mental development and improvement of receptive and expressive language development were observed. Lower chronological age and higher developmental age at the start of therapy were found to be positive predictors of expressive language development. The results are discussed within the context of other early intervention programs.
C1 [Kitzerow, Janina; Wilker, Christian; Teufel, Karoline; Soll, Sophie; Schneider, Monika; Westerwald, Eva; Sachse, Michael; Marinovic, Vesna; Berndt, Kerstin; Valerian, Jennifer; Feineis-Matthews, Sabine; Freitag, Christine M.] Goethe Univ Frankfurt, Klin Psychiat Psychosomat & Psychotherapie Kindes, D-60528 Frankfurt, Germany.
RP Kitzerow, J (reprint author), Goethe Univ Frankfurt, Klin Psychiat Psychosomat & Psychotherapie Kindes, Deutschordenstr 50, D-60528 Frankfurt, Germany.
EM Janina.Kitzerow@kgu.de
CR Bolte S, 2005, Z KINDER JUG-PSYCH, V33, P5, DOI 10.1024/1422-4917.33.1.5
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NR 36
TC 1
Z9 1
PU HOGREFE & HUBER PUBLISHERS
PI GOTTINGEN
PA ROHNSWEG 25, D-37085 GOTTINGEN, GERMANY
SN 0942-5403
EI 2190-6246
J9 KINDH ENTWICKL
JI Kindh. Entwickl.
PY 2014
VL 23
IS 1
BP 34
EP 41
DI 10.1026/0942-5403/a000133
PG 8
WC Psychology, Developmental
SC Psychology
GA 268SP
UT WOS:000328191100005
ER
PT J
AU Gruber, K
Frohlich, U
Noterdaeme, M
AF Gruber, Karolin
Froehlich, Ulrike
Noterdaeme, Michele
TI Effect of a parent training program to enhance social communication of
children with autism spectrum disorders
SO KINDHEIT UND ENTWICKLUNG
LA English
DT Article
DE autism spectrum disorders; parent training; social communication; TASK
ID EARLY INTERVENTION; BEHAVIORS
AB TASK: Training Autism . Language . Communication is a parent group training to enhance social communication in children with ASD. The training evaluation took place in a nonrandomized controlled pilot study of 22 children with ASD, aged 40-71 months, whose parents were either assigned to the TASK-group (n = 12) or a treatment-as-usual-group (n = 10). Social communication was measured prior and immediately after the intervention and within the TASK-group in a follow-up using questionnaires and a video-recorded parent-child interaction. The video data were coded in the Dyadic Communication Measure for Autism. In parents the percentage of synchronous communication within the TASK-group changed positively (p = .049). In children the initiating communication of the TASK-group increased compared with the TAU-group (p = .028). In the follow-up a significant increase of child communication was observed. The results of the pilot study need to be verified through a randomized controlled trial before final conclusions can be drawn.
C1 [Gruber, Karolin; Froehlich, Ulrike; Noterdaeme, Michele] Klin Kinder & Jugendpsychiat & Psychotherapie Jos, Augsburg, Germany.
RP Gruber, K (reprint author), Behandlungszentrum Autismus & Entwicklungsstorung, Josefinum Klin Kinder & Jugendpsychiat & Psychoth, Kapellenstr 30, D-86154 Augsburg, Germany.
EM karolin.gruber@edu.lmu.de
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NR 28
TC 1
Z9 1
PU HOGREFE & HUBER PUBLISHERS
PI GOTTINGEN
PA ROHNSWEG 25, D-37085 GOTTINGEN, GERMANY
SN 0942-5403
EI 2190-6246
J9 KINDH ENTWICKL
JI Kindh. Entwickl.
PY 2014
VL 23
IS 1
BP 42
EP 51
DI 10.1026/0942-5403/a000123
PG 10
WC Psychology, Developmental
SC Psychology
GA 268SP
UT WOS:000328191100006
ER
PT J
AU Freitag, CM
Cholemkery, H
Elsuni, L
AF Freitag, Christine M.
Cholemkery, Hannah
Elsuni, Leyla
TI The group-based social skills training SOSTA-FRA in children and
adolescents with high functioning Autism Spectrum Disorder: Prepost
effects
SO KINDHEIT UND ENTWICKLUNG
LA German
DT Article
DE group-based therapy; autism spectrum disorder; social responsiveness;
therapy process
ID ASPERGERS-SYNDROME; GERMAN FORM; INTERVENTION; EPIDEMIOLOGY; RELIABILITY
AB Individuals with autism spectrum disorder show impaired communication and social interaction skills as well as stereotyped behavior and repetitive interests. Group-based social skills training has been recommended as treatment of choice in children and adolescents with high-functioning autism spectrum disorder with the aim to improve social interaction and communication. The present study assessed the pre-post effect of the new autism specific group-based therapy SOSTA-FRA on parent-rated improvement of social responsiveness. In addition, more global measures on therapy efficacy as well as session specific process-related variables were explored. Amedium effect size on change in the SRS total raw score by therapy was observed. Patient self-reports showed a good transfer of taught content into self-formulated therapy aims and their achievement. Currently, the SOSTA-FRA training is studied by a multi-center randomized controlled trial. If the effect can be replicated, the program can be recommended for broad use in clinics, private practices, and autism specific therapy centers.
C1 [Freitag, Christine M.; Cholemkery, Hannah; Elsuni, Leyla] Goethe Univ Frankfurt, Klin Psychiat Psychosomat & Psychotherapie Kindes, Univ Klinikum, D-60528 Frankfurt, Germany.
RP Freitag, CM (reprint author), Goethe Univ Frankfurt, Klin Psychiat Psychosomat & Psychotherapie Kindes, Univ Klinikum, Deutschordenstr 50, D-60528 Frankfurt, Germany.
EM c.freitag@em.uni-frankfurt.de
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NR 24
TC 1
Z9 1
PU HOGREFE & HUBER PUBLISHERS
PI GOTTINGEN
PA ROHNSWEG 25, D-37085 GOTTINGEN, GERMANY
SN 0942-5403
EI 2190-6246
J9 KINDH ENTWICKL
JI Kindh. Entwickl.
PY 2014
VL 23
IS 1
BP 52
EP 60
DI 10.1026/0942-5403/a000124
PG 9
WC Psychology, Developmental
SC Psychology
GA 268SP
UT WOS:000328191100007
ER
PT J
AU Lacasse, JR
AF Lacasse, Jeffrey R.
TI After DSM-5: A Critical Mental Health Research Agenda for the 21st
Century
SO RESEARCH ON SOCIAL WORK PRACTICE
LA English
DT Editorial Material
ID DISORDER; CONTROVERSIES; RELIABILITY; SCHIZOPHRENIA; INTERVENTION;
MEDICATIONS; DIAGNOSIS; VALIDITY; DISEASE; AUTISM
C1 [Lacasse, Jeffrey R.] Florida State Univ, Tallahassee, FL 32306 USA.
RP Lacasse, JR (reprint author), Florida State Univ, Coll Social Work, 296 Champ Dr, Tallahassee, FL 32306 USA.
EM jlacasse@fsu.edu
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NR 77
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1049-7315
EI 1552-7581
J9 RES SOCIAL WORK PRAC
JI Res. Soc. Work. Pract.
PD JAN
PY 2014
VL 24
IS 1
SI SI
BP 5
EP 10
DI 10.1177/1049731513510048
PG 6
WC Social Work
SC Social Work
GA 269EL
UT WOS:000328224200001
ER
PT J
AU Linton, KF
Krcek, TE
Sensui, LM
Spillers, JLH
AF Linton, Kristen Faye
Krcek, Taylor E.
Sensui, Leonard M.
Spillers, Jessica L. H.
TI Opinions of People Who Self-Identify With Autism and Asperger's on DSM-5
Criteria
SO RESEARCH ON SOCIAL WORK PRACTICE
LA English
DT Article
DE autism spectrum disorders; DSM-5; Aspergers; gender; validity
ID SPECTRUM DISORDER; DIAGNOSTIC-CRITERIA; IV; RELIABILITY; AGREEMENT
AB Purpose: Autistic disorder (AD), Asperger's syndrome (AS), and pervasive developmental disorder-not otherwise specified (PDD-NOS) have been removed from the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5). It now contains the autism spectrum disorder (ASD) diagnosis. This study assessed how people with AD and AS felt about the DSM-5 ASD criteria.
Method: Phenomenological analysis of discussion forum dialogue among participants (N = 76) with AD and AS was conducted.
Results: Discussions demonstrated agreement that the PDD-NOS diagnosis should be removed from the DSM-5. People with AD and AS were concerned about the inclusion of medical or neurobiological research, functioning, reciprocity, and gender bias in the ASD diagnosis.
Discussion: Social workers should acknowledge the feelings of people with AD and AS when they use the DSM-5.
C1 [Linton, Kristen Faye; Sensui, Leonard M.; Spillers, Jessica L. H.] Univ Hawaii Manoa, Myron B Thompson Sch Social Work, Honolulu, HI 96822 USA.
[Krcek, Taylor E.] Univ Tennessee, Coll Social Work, Knoxville, TN USA.
RP Linton, KF (reprint author), Univ Hawaii Manoa, Myron B Thompson Sch Social Work, 1800 East West Rd, Honolulu, HI 96822 USA.
EM kfbean@hawaii.edu
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NR 41
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1049-7315
EI 1552-7581
J9 RES SOCIAL WORK PRAC
JI Res. Soc. Work. Pract.
PD JAN
PY 2014
VL 24
IS 1
SI SI
BP 67
EP 77
DI 10.1177/1049731513495457
PG 11
WC Social Work
SC Social Work
GA 269EL
UT WOS:000328224200007
ER
PT J
AU Oliver, J
AF Oliver, Jeremy
TI The Homunculi Approach to Social and Emotional Wellbeing: a flexible CBT
programme for young people on the autism spectrum or with emotional and
behavioural difficulties
SO BEHAVIOURAL AND COGNITIVE PSYCHOTHERAPY
LA English
DT Book Review
C1 [Oliver, Jeremy] Camden & Islington NHS Fdn Trust, London, England.
RP Oliver, J (reprint author), Camden & Islington NHS Fdn Trust, London, England.
CR GREIG A, 2013, HOMUNCULI APPROACH S
Weisz J. R., 2010, EVIDENCE BASED PSYCH, P3
NR 2
TC 0
Z9 0
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 1352-4658
EI 1469-1833
J9 BEHAV COGN PSYCHOTH
JI Behav. Cognit. Psychther.
PD JAN
PY 2014
VL 42
IS 1
BP 124
EP 125
DI 10.1017/S1352465813001021
PG 2
WC Psychology, Clinical
SC Psychology
GA 258PJ
UT WOS:000327470900011
ER
PT J
AU Karim, K
Cook, L
O'Reilly, M
AF Karim, K.
Cook, L.
O'Reilly, M.
TI Diagnosing autistic spectrum disorder in the age of austerity
SO CHILD CARE HEALTH AND DEVELOPMENT
LA English
DT Article
DE autism; diagnosis; perceptions; professionals
ID CHILDREN; CLASSIFICATION; COMMUNICATION; PREVALENCE; PARENTS
AB BackgroundDiagnosing autistic spectrum disorder is a challenge, typically involving myriad professionals. In the current climate we explore how diagnosis is managed in the real world by professionals.
MethodsUsing semi-structured interviews we thematically analyse data from psychiatrists, paediatricians and educational psychologists.
ResultsWhile there is some consistency across and within these groups there are also a number of variances, and several important issues are highlighted. These include the problem of time and resources, the issue of location for diagnosis, the value of diagnostic tools and schedules, the need for supporting information, the difficulty of multi-agency working, the relevance of a physical examination and the eventual diagnostic label.
ConclusionsIn the current economic climate and considering changes in guidelines there is a need to evaluate current service provision and enhance services. However, attention needs to be paid to the practical and realistic application of the suggested guidance.
C1 [Karim, K.; Cook, L.; O'Reilly, M.] Univ Leicester, Greenwood Inst Child Hlth, Dept Psychol, Leicester LE3 0QU, Leics, England.
RP O'Reilly, M (reprint author), Univ Leicester, Greenwood Inst Child Hlth, Westcotes Dr, Leicester LE3 0QU, Leics, England.
EM mjo14@le.ac.uk
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NR 23
TC 2
Z9 2
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 JAN
PY 2014
VL 40
IS 1
BP 115
EP 123
DI 10.1111/j.1365-2214.2012.01410.x
PG 9
WC Psychology, Developmental; Pediatrics
SC Psychology; Pediatrics
GA 262IP
UT WOS:000327728100014
PM 22712808
ER
PT J
AU Cosar, A
Ipcioglu, OM
Ozcan, O
Gultepe, M
AF Cosar, Alpaslan
Ipcioglu, Osman Metin
Ozcan, Omer
Gultepe, Mustafa
TI Folate and homocysteine metabolisms and their roles in the biochemical
basis of neuropsychiatry
SO TURKISH JOURNAL OF MEDICAL SCIENCES
LA English
DT Review
DE One-carbon metabolism; folic acid; folate subgroups; homocysteine;
vitamin B-12; neuropsychiatric disorders
ID ONE-CARBON METABOLISM; FOLIC-ACID; METHYLENETETRAHYDROFOLATE REDUCTASE;
S-ADENOSYLMETHIONINE; PLASMA HOMOCYSTEINE; ALZHEIMERS-DISEASE;
RISK-FACTOR; OXIDATIVE STRESS; BINDING PROTEINS; MAMMALIAN-CELLS
AB The term 'one-carbon metabolism' is commonly used to describe 3 separate metabolic processes: folate metabolism, the homocysteine remethylation cycle, and the transsulfuration pathway. Folate metabolism concerns the biochemical reactions in which endogenous and exogenous one-carbon units are transferred to tetrahydrofolates. The remethylation cycle is used for the synthesis of methionine from homocysteine with one-carbon units that come from folate. This methionine is then used for the synthesis of S-adenosyl methionine, which is a general donor of methyl groups for many biochemical reactions in the human body. In the transsulfuration pathway, some amino acids and polypeptides, such as cystathionine, cysteine, and glutathione, are synthesized from homocysteine. The kinetics of the enzymes in this pathway are regulated by the substrates of the remethylation cycle. The methylation process has been thought to have an important role in the biochemical basis of neuropsychiatry. An elevated homocysteine level is the most important marker of folate and vitamin B-12 deficiencies, and also the most reliable biochemical sign of functional insufficiency. Some neurological and neuropsychiatric diseases, such as psychosis, Alzheimer's disease, and autism, have been found to be related to disorders of one-carbon metabolism. This review aims to summarize both one-carbon metabolism and its relationships with neuropsychiatric disorders.
C1 [Cosar, Alpaslan] Girne Mil Hosp, Dept Med Biochem, Girne, Cyprus.
[Ipcioglu, Osman Metin; Ozcan, Omer; Gultepe, Mustafa] Haydarpasa Training Hosp, Gulhane Mil Med Acad, Dept Med Biochem, Istanbul, Turkey.
RP Cosar, A (reprint author), Girne Mil Hosp, Dept Med Biochem, Girne, Cyprus.
EM alpaslancosar@yahoo.com
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NR 62
TC 0
Z9 0
PU TUBITAK SCIENTIFIC & TECHNICAL RESEARCH COUNCIL TURKEY
PI ANKARA
PA ATATURK BULVARI NO 221, KAVAKLIDERE, ANKARA, 00000, TURKEY
SN 1300-0144
EI 1303-6165
J9 TURK J MED SCI
JI Turk. J. Med. Sci.
PY 2014
VL 44
IS 1
BP 1
EP 9
DI 10.3906/sag-1211-39
PG 9
WC Medicine, General & Internal
SC General & Internal Medicine
GA 260KB
UT WOS:000327592600001
PM 25558551
ER
PT J
AU Condro, MC
White, SA
AF Condro, Michael C.
White, Stephanie A.
TI Distribution of Language-Related Cntnap2 Protein in Neural Circuits
Critical for Vocal Learning
SO JOURNAL OF COMPARATIVE NEUROLOGY
LA English
DT Article
DE autism; birdsong; Caspr2; speech; zebra finch
ID ZEBRA FINCH SONG; TAENIOPYGIA-GUTTATA; MYELINATED AXONS; HUMAN SPEECH;
K+-CHANNELS; NEUREXIN SUPERFAMILY; PROJECTION NEURONS; FORKHEAD-DOMAIN;
LEAD-EXPOSURE; KV1 CHANNELS
AB Variants of the contactin associated protein-like 2 (Cntnap2) gene are risk factors for language-related disorders including autism spectrum disorder, specific language impairment, and stuttering. Songbirds are useful models for study of human speech disorders due to their shared capacity for vocal learning, which relies on similar cortico-basal ganglia circuitry and genetic factors. Here we investigate Cntnap2 protein expression in the brain of the zebra finch, a songbird species in which males, but not females, learn their courtship songs. We hypothesize that Cntnap2 has overlapping functions in vocal learning species, and expect to find protein expression in song-related areas of the zebra finch brain. We further expect that the distribution of this membrane-bound protein may not completely mirror its mRNA distribution due to the distinct subcellular localization of the two molecular species. We find that Cntnap2 protein is enriched in several song control regions relative to surrounding tissues, particularly within the adult male, but not female, robust nucleus of the arcopallium (RA), a cortical song control region analogous to human layer 5 primary motor cortex. The onset of this sexually dimorphic expression coincides with the onset of sensorimotor learning in developing males. Enrichment in male RA appears due to expression in projection neurons within the nucleus, as well as to additional expression in nerve terminals of cortical projections to RA from the lateral magnocellular nucleus of the nidopallium. Cntnap2 protein expression in zebra finch brain supports the hypothesis that this molecule affects neural connectivity critical for vocal learning across taxonomic classes. J. Comp. Neurol. 522:169-185, 2014. (c) 2013 Wiley Periodicals, Inc.
C1 [Condro, Michael C.; White, Stephanie A.] Univ Calif Los Angeles, Mol Cellular & Integrat Physiol Interdept Program, Los Angeles, CA 90095 USA.
[White, Stephanie A.] Univ Calif Los Angeles, Dept Integrat Biol & Physiol, Los Angeles, CA 90095 USA.
RP White, SA (reprint author), Univ Calif Los Angeles, Dept Integrat Biol & Physiol, 610 Charles E Young Dr East, Los Angeles, CA 90095 USA.
EM sawhite@ucla.edu
FU National Institutes of Health [NIH 5 T32 NS058280, NIH R21 HD065271];
UCLA Eureka Scholarship; UCLA Edith Hyde Fellowship; US Army [AR093327]
FX Grant sponsors: National Institutes of Health; Grant numbers: NIH 5 T32
NS058280, NIH R21 HD065271; Grant sponsor: UCLA Eureka Scholarship;
Grant sponsor: UCLA Edith Hyde Fellowship (to M.C.C.); Grant sponsor: US
Army; Grant number: AR093327 (to S.A.W.).
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NR 69
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9967
EI 1096-9861
J9 J COMP NEUROL
JI J. Comp. Neurol.
PD JAN
PY 2014
VL 522
IS 1
BP 169
EP 185
DI 10.1002/cne.23394
PG 17
WC Neurosciences; Zoology
SC Neurosciences & Neurology; Zoology
GA 256XG
UT WOS:000327346800009
PM 23818387
ER
PT J
AU Wang, CC
Held, RG
Hall, BJ
AF Wang, Chih-Chieh
Held, Richard G.
Hall, Benjamin J.
TI SynGAP Regulates Protein Synthesis and Homeostatic Synaptic Plasticity
in Developing Cortical Networks
SO PLOS ONE
LA English
DT Article
ID FRAGILE-X-SYNDROME; LONG-TERM POTENTIATION; GTPASE-ACTIVATING PROTEIN;
D-ASPARTATE RECEPTOR; GLUN2B-CONTAINING NMDA RECEPTORS; KINASE-II;
IN-VIVO; DEVELOPMENTAL SWITCH; DEVELOPING SYNAPSES; TUBEROUS SCLEROSIS
AB Disrupting the balance between excitatory and inhibitory neurotransmission in the developing brain has been causally linked with intellectual disability (ID) and autism spectrum disorders (ASD). Excitatory synapse strength is regulated in the central nervous system by controlling the number of postsynaptic alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors (AMPARs). De novo genetic mutations of the synaptic GTPase-activating protein (SynGAP) are associated with ID and ASD. SynGAP is enriched at excitatory synapses and genetic suppression of SynGAP increases excitatory synaptic strength. However, exactly how SynGAP acts to maintain synaptic AMPAR content is unclear. We show here that SynGAP limits excitatory synaptic strength, in part, by suppressing protein synthesis in cortical neurons. The data presented here from in vitro, rat and mouse cortical networks, demonstrate that regulation of translation by SynGAP involves ERK, mTOR, and the small GTP-binding protein Rheb. Furthermore, these data show that GluN2B-containing NMDARs and the cognitive kinase CaMKII act upstream of SynGAP and that this signaling cascade is required for proper translation-dependent homeostatic synaptic plasticity of excitatory synapses in developing cortical networks.
C1 [Wang, Chih-Chieh; Hall, Benjamin J.] Tulane Univ, Sch Sci & Engn, Neurosci Program, New Orleans, LA 70118 USA.
[Held, Richard G.; Hall, Benjamin J.] Tulane Univ, Sch Sci & Engn, Dept Cell & Mol Biol, New Orleans, LA 70118 USA.
RP Hall, BJ (reprint author), Tulane Univ, Sch Sci & Engn, Neurosci Program, New Orleans, LA 70118 USA.
EM benhall@tulane.edu
FU National Institute for Mental Health [MH099378-01]; National Science
Foundation CAREER award [NS065374]
FX This work was supported by a grant from the National Institute for
Mental Health (MH099378-01 to BJH) and a National Science Foundation
CAREER award (NS065374 to BJH). 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 86
TC 3
Z9 3
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD DEC 31
PY 2013
VL 8
IS 12
AR e83941
DI 10.1371/journal.pone.0083941
PG 15
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 284NF
UT WOS:000329325200148
PM 24391850
ER
PT J
AU de Sampaio, FTP
Soneira, S
Aulicino, A
Martese, G
Iturry, M
Allegri, RF
AF de Sampaio, Femanda Tapajoz P.
Soneira, Sebastian
Aulicino, Alfredo
Martese, Graciela
Iturry, Monica
Francisco Allegri, Ricardo
TI Theory of mind and central coherence in eating disorders: Two sides of
the same coin?
SO PSYCHIATRY RESEARCH
LA English
DT Article
DE Anorexia; Bulimia; Neuropsychology; Central coherence; Theory of mind
ID OBSESSIVE-COMPULSIVE INVENTORY; HIGH-FUNCTIONING AUTISM;
ANOREXIA-NERVOSA; ASPERGER-SYNDROME; EMOTION RECOGNITION;
BULIMIA-NERVOSA; VERSION; BIAS; POPULATION; VALIDATION
AB The aim of this study was to evaluate central coherence and theory of mind (ToM) and explore the relationships between these domains in patients with eating disorders (ED). ToM and central coherence were assessed in 72 women 124 with anorexia nervosa (AN), 24 with bulimia nervosa (BN) and 24 healthy controls (HC)]. The Reading the Mind in the Eyes (RME) and the Faux Pas Test (FPT) to measure ToM, and the copy strategy of the Rey-Osterrieth Complex Figure Test to assess central coherence were used. It was observed that patients with ED had a decrease in central coherence skills compared with the control group; that patients with anorexia had a poor performance on RME ToM task compared with BN patients and HCs, and also that these measures were related in both clinical groups. The statistically significant correlation between them suggests that the central coherence and ToM measures might involve common cognitive processes. These results provide a better understanding of the nature of the socio-cognitive deficits observed in patients with eating disorders. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
C1 [de Sampaio, Femanda Tapajoz P.; Francisco Allegri, Ricardo] Consejo Nacl Invest Cient & Tecn, RA-1033 Buenos Aires, DF, Argentina.
[de Sampaio, Femanda Tapajoz P.; Francisco Allegri, Ricardo] Inst Invest Neurol Raul Carrea FLENI, Dept Cognit Neurol Neuropsychol & Neuropsychiat, Buenos Aires, DF, Argentina.
[Soneira, Sebastian] Inst Dr Cormillot, Nutr & Hlth Clin, Buenos Aires, DF, Argentina.
[de Sampaio, Femanda Tapajoz P.; Aulicino, Alfredo] Hosp Gen Cosme Argerich, Sect Eating Disorders, Buenos Aires, DF, Argentina.
[Martese, Graciela; Iturry, Monica] Hosp Gen Abel Zubizarreta, Lab Memory, Buenos Aires, DF, Argentina.
RP de Sampaio, FTP (reprint author), Inst Invest Neurol Raul Carrea FLENI, Dept Cognit Neurol Neuropsychol & Neuropsychiat, Montaneses 2325 8th Floor,C1428AQK, Buenos Aires, DF, Argentina.
EM fetapajoz@hotmail.com
FU CONICET
FX Fernanda Tapajoz is grateful to M. Botta Cantcheff and C. Braga Junior,
for reading the manuscript and stimulating observations. Special thanks
are also due to Prof. Dr. Helmuth Kruger for his important support. The
authors thanks Cormillot and Fleni Institutes, Argerich and Zubizarreta
Hospitals, and to all the participants who took part in the study. F.T.
and R.F.A. are supported by CONICET.
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NR 40
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-1781
J9 PSYCHIAT RES
JI Psychiatry Res.
PD DEC 30
PY 2013
VL 210
IS 3
BP 1116
EP 1122
DI 10.1016/j.psychres.2013.08.051
PG 7
WC Psychiatry
SC Psychiatry
GA 285TI
UT WOS:000329417500069
ER
PT J
AU Zalla, T
Sperduti, M
AF Zalla, Tiziana
Sperduti, Marco
TI The amygdala and the relevance detection theory of autism: an
evolutionary perspective
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Review
DE autism spectrum disorders; amygdala; ventromedial prefrontal cortex;
self-relevance; social brain
ID HIGH-FUNCTIONING CHILDREN; MONKEYS MACACA-MULATTA; SOCIAL NETWORK SIZE;
FUSIFORM FACE AREA; SPECTRUM DISORDERS; ASPERGERS-SYNDROME; FACIAL
EXPRESSIONS; EXECUTIVE FUNCTION; EMOTIONAL STIMULI; NEGATIVE EMOTION
AB In the last few decades there has been increasing interest in the role of the amygdala in psychiatric disorders and, in particular, in its contribution to the socio-emotional impairments in autism spectrum disorders(ASDs). Given that the amygdala is a component structure of the "social brain," several theoretical explanations compatible with amygdala dysfunction have been proposed to account for socio-emotional impairments in ASDs, including abnormal eye contact, gaze monitoring, face processing, mental state understanding, and empathy. Nevertheless, many theoretical accounts, based on the Amygdala Theory of Autism, fail to elucidate the complex pattern of impairments observed in this population, which extends beyond the social domain. As posited by the Relevance Detector theory (Sander et al., 2003), the human amygdala is a critical component of a brain circuit involved in the appraisal of self-relevant events that include, but are not restricted to, social stimuli. Here, we propose that the behavioral and social-emotional features of ASDs may be better understood in terms of a disruption in a "Relevance Detector Network" affecting the processing of stimuli that are relevant for the organism's self regulating functions. In the present review, we will first summarize the main literature supporting the involvement of the amygdala in socio-emotional disturbances in ASDs. Next, we will present a revised version of the Amygdala Relevance Detector hypothesis and we will show that this theoretical framework can provide a better understanding of the heterogeneity of the impairments and symptomatology of ASDs. Finally, we will discuss some predictions of our model, and suggest new directions in the investigation of the role of the amygdala within the more generally disrupte dcortical connectivity framework as a model of neural organization of the autistic brain.
C1 [Zalla, Tiziana] Ecole Normale Super, CNRS, Inst Jean Nicod, F-75005 Paris, France.
[Sperduti, Marco] Univ Paris 05, Inst Physiol, Lab Memoire & Cognit, Boulogne, France.
[Sperduti, Marco] Univ Paris 05, Ctr Psychiat & Neurosci, INSERM, U894, Paris, France.
RP Zalla, T (reprint author), Ecole Normale Super, CNRS, Inst Jean Nicod, 29 Rue Ulm, F-75005 Paris, France.
EM tiziana.zalla@ens.fr
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NR 211
TC 8
Z9 8
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 DEC 30
PY 2013
VL 7
AR 894
DI 10.3389/fnhum.2013.00894
PG 15
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA 283NA
UT WOS:000329251600001
PM 24416006
ER
PT J
AU Jeffries, AR
Collier, DA
Vassos, E
Curran, S
Ogilvie, CM
Price, J
AF Jeffries, Aaron R.
Collier, David A.
Vassos, Evangelos
Curran, Sarah
Ogilvie, Caroline M.
Price, Jack
TI Random or Stochastic Monoallelic Expressed Genes Are Enriched for
Neurodevelopmental Disorder Candidate Genes
SO PLOS ONE
LA English
DT Article
ID AUTISM-SPECTRUM DISORDERS; COPY-NUMBER VARIATION; GENOME-WIDE SCREEN;
ALLELIC EXPRESSION; STEM-CELLS; ARRAY CGH; ASSOCIATION; DISEASES;
REVEALS; VARIANT
AB Random or stochastic monoallelic expressed genes (StMA genes) represent a unique form of monoallelic expression where allelic choice is made at random early in development. The consequential clonal diversity provides opportunity for functional heterozygosity in tissues such as the brain, and can impact on both development and disease. We investigate the relationship of StMA expressed genes previously identified in clonal neural stem cells with the neurodevelopmental disorders autism and schizophrenia. We found that StMA genes show an overrepresentation of schizophrenia risk candidates identified by genome wide association studies from the genetic association database. Similar suggestive enrichment was also found for genes from the NHGRI genome-wide association study catalog and a psychiatric genetics consortium schizophrenia dataset although these latter more robust gene lists did not achieve statistical significance. We also examined multiple sources of copy number variation (CNV) datasets from autism and schizophrenia cohorts. After taking into account total gene numbers and CNV size, both autism and schizophrenia associated CNVs appeared to show an enrichment of StMA genes relative to the control CNV datasets. Since the StMA genes were originally identified in neural stem cells, bias due to the neural transcriptome is possible. To address this, we randomly sampled neural stem cell expressed genes and repeated the tests. After a significant number of iterations, neural stem cell expressed genes did not show an overrepresentation in autism or schizophrenia CNV datasets. Therefore, irrespective of the neural derived transcriptome, StMA genes originally identified in neural stem cells show an overrepresentation in CNVs associated with autism and schizophrenia. If this association is functional, then the regulation (or dysregulation) of this form of allelic expression status within tissues such as the brain may be a contributory risk factor for neurodevelopmental disorders and may also influence disease discordance sometimes observed in monozygotic twins.
C1 [Jeffries, Aaron R.; Price, Jack] Kings Coll London, Inst Psychiat, Ctr Cellular Basis Behav, Dept Neurosci, London WC2R 2LS, England.
[Collier, David A.] Eli Lilly & Co Ltd, Discovery Neurosci Res, Windlesham, Surrey, England.
[Collier, David A.; Vassos, Evangelos; Curran, Sarah] Kings Coll London, Inst Psychiat, Social Genet & Dev Psychiat Ctr, London WC2R 2LS, England.
[Ogilvie, Caroline M.] Guys & St Thomas NHS Fdn Trust, Dept Cytogenet, London, England.
RP Jeffries, AR (reprint author), Kings Coll London, Inst Psychiat, Ctr Cellular Basis Behav, Dept Neurosci, London WC2R 2LS, England.
EM Aaron.R.Jeffries@kcl.ac.uk
RI Jeffries, Aaron/D-1256-2014
OI Jeffries, Aaron/0000-0002-1235-8291
FU National Institute for Health Research (NIHR) Biomedical Research Centre
for Mental Health at South London; Maudsley NHS Foundation Trust;
Institute of Psychiatry, King's College London; National Institute for
Health Research (NIHR); Innovative Medicines Initiative; European Union
FX The authors acknowledge the financial support of the National Institute
for Health Research (NIHR) Biomedical Research Centre for Mental Health
at South London and Maudsley NHS Foundation Trust and Institute of
Psychiatry, King's College London. This article presents independent
research funded by the National Institute for Health Research (NIHR).
The views expressed are those of the author(s) and not necessarily those
of the NHS, the NIHR or the Department of Health. The research leading
to these results has received support from the Innovative Medicines
Initiative Joint Undertaking under grant agreements n degrees 115439,
resources of which are composed of financial contribution from the
European Union's Seventh Framework Programme (FP7/2007 - 2013) and EFPIA
companies' in kind contribution. 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 27
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 DEC 27
PY 2013
VL 8
IS 12
AR e85093
DI 10.1371/journal.pone.0085093
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 281RE
UT WOS:000329117900124
PM 24386451
ER
PT J
AU Pollmann, MMH
van Beest, I
AF Pollmann, Monique M. H.
van Beest, Ilja
TI Women Are Better at Selecting Gifts than Men
SO PLOS ONE
LA English
DT Article
ID SPECTRUM QUOTIENT AQ; FUNCTIONING AUTISM; CHRISTMAS GIFT; EMPATHY;
PERSPECTIVE; COMPETENCE; STRATEGIES; EXCHANGE; BENEFITS; LOVE
AB There is a widespread belief that women are better at selecting gifts than men; however, this claim has not been assessed on the basis of objective criteria. The current studies do exactly that and show that women do indeed make better gift selections for others, regardless of the gender of the receiver and the type of relationship between the giver and receiver. We investigate the mediating role of different aspects of interpersonal sensitivity and reveal that differences in interpersonal interest (measured with an autism questionnaire), but not differences in interpersonal reactivity, explain gender differences in gift selection quality. The current studies thus present the first objective evidence for the claim that women are better in selecting gifts for others and also give an indication of why this is the case.
C1 [Pollmann, Monique M. H.] Tilburg Univ, Dept Commun & Informat Sci, NL-5000 LE Tilburg, Netherlands.
[van Beest, Ilja] Tilburg Univ, Dept Social Psychol, NL-5000 LE Tilburg, Netherlands.
RP Pollmann, MMH (reprint author), Tilburg Univ, Dept Commun & Informat Sci, NL-5000 LE Tilburg, Netherlands.
EM m.m.h.pollmann@uvt.nl
RI Pollmann, Monique/C-6508-2011
FU Tilburg Institute for Behavioral Economics research (TIBER)
FX This research was funded by the Tilburg Institute for Behavioral
Economics research (TIBER). 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 35
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 DEC 26
PY 2013
VL 8
IS 12
AR e81643
DI 10.1371/journal.pone.0081643
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 281QS
UT WOS:000329116700002
PM 24386082
ER
PT J
AU Souchay, C
Guillery-Girard, B
Pauly-Takacs, K
Wojcik, DZ
Eustache, F
AF Souchay, Celine
Guillery-Girard, Berengere
Pauly-Takacs, Katalin
Zofia Wojcik, Dominika
Eustache, Francis
TI Subjective experience of episodic memory and metacognition: a
neurodevelopmental approach
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Review
DE episodic memory; recollection; metamemory; neurodevelopmental disorders
ID 22Q11.2 DELETION SYNDROME; AUTISM SPECTRUM DISORDER; MEDIAL
TEMPORAL-LOBE; HIPPOCAMPAL VOLUME REDUCTION; CHILDHOOD HEAD-INJURY;
LONG-TERM-MEMORY; WILLIAMS-SYNDROME; AUTOBIOGRAPHICAL MEMORY;
DEVELOPMENTAL AMNESIA; DOWN-SYNDROME
AB Episodic retrieval is characterized by the subjective experience of remembering. This experience enables the co-ordination of memory retrieval processes and can be acted on metacognitively. In successful retrieval, the feeling of remembering may be accompanied by recall of important contextual information. On the other hand, when people fail (or struggle) to retrieve information, other feelings, thoughts, and information may come to mind. In this review, we examine the subjective and metacognitive basis of episodic memory function from a neurodevelopmental perspective, looking at recollection paradigms (such as source memory, and the report of recollective experience) and metacognitive paradigms such as the feeling of knowing). We start by considering healthy development, and provide a brief review of the development of episodic memory, with a particular focus on the ability of children to report first-person experiences of remembering. We then consider neurodevelopmental disorders (NDDs) such as amnesia acquired in infancy, autism, Williams syndrome, Down syndrome, or 22q11.2 deletion syndrome. This review shows that different episodic processes develop at different rates, and that across a broad set of different NDDs there are various types of episodic memory impairment, each with possibly a different character. This literature is in agreement with the idea that episodic memory is a multifaceted process.
C1 [Souchay, Celine] Univ Bourgogne, LEAD UMR CNRS 5022, F-21065 Dijon, France.
[Souchay, Celine] Univ Bristol, Dept Expt Psychol, Bristol, Avon, England.
[Guillery-Girard, Berengere; Eustache, Francis] INSERM, U1077, Caen, France.
[Guillery-Girard, Berengere; Eustache, Francis] Univ Caen Basse Normandie, UMR S1077, Caen, France.
[Guillery-Girard, Berengere; Eustache, Francis] Ecole Prat Hautes Etud, UMR S1077, Caen, France.
[Guillery-Girard, Berengere; Eustache, Francis] CHU Caen, UMR S1077, F-14000 Caen, France.
[Pauly-Takacs, Katalin] Leeds Metropolitan Univ, Sch Social Psychol & Commun Sci, Leeds LS1 3HE, W Yorkshire, England.
[Zofia Wojcik, Dominika] Univ Valladolid, Dept Psychol, Valladolid, Spain.
RP Souchay, C (reprint author), Univ Bourgogne, LEAD CNRS UMR 5022, Pole AAFE, F-21065 Dijon, France.
EM celine.souchay@u-bourgogne.fr
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Yonelinas AP, 2002, J MEM LANG, V46, P441, DOI 10.1006/jmla.2002.2864
NR 164
TC 5
Z9 5
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 DEC 25
PY 2013
VL 7
AR 212
DI 10.3389/fnbeh.2013.00212
PG 16
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 279KY
UT WOS:000328960100001
PM 24399944
ER
PT J
AU Spilioti, M
Evangeliou, AE
Tramma, D
Theodoridou, Z
Metaxas, S
Michailidi, E
Bonti, E
Frysira, H
Haidopoulou, A
Asprangathou, D
Tsalkidis, AJ
Kardaras, P
Wevers, RA
Jakobs, C
Gibson, KM
AF Spilioti, Martha
Evangeliou, Athanasios E.
Tramma, Despoina
Theodoridou, Zoe
Metaxas, Spyridon
Michailidi, Eleni
Bonti, Eleni
Frysira, Helen
Haidopoulou, A.
Asprangathou, Despoina
Tsalkidis, Aggelos J.
Kardaras, Panagiotis
Wevers, Ron A.
Jakobs, Cornelis
Gibson, K. Michael
TI Evidence for treatable inborn errors of metabolism in a cohort of 187
Greek patients with autism spectrum disorder (ASD)
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE autism; inborn errors of metabolism; biotin; ketogenic diet;
3-hydroxyisovaleric acid; Lesch-Nyhan disease; succinic semialdehyde
dehydrogenase deficiency; phenylketonuria
ID GENETIC EVALUATION; MITOCHONDRIAL DISEASE; CHILDREN; DEFICIENCY;
CLASSIFICATION; COMPLEXES; DIAGNOSIS; CHAIN; MICE
AB We screened for the presence of inborn errors of metabolism (IEM) in 187 children (105 males; 82 females, ages 4-14 years old) who presented with confirmed features of autism spectrum disorder (ASD). Twelve patients (7%) manifested increased 3-hydroxyisovaleric acid (3-OH-IVA) excretion in urine, and minor to significant improvement in autistic features was observed in seven patients following supplementation with biotin. Five diagnoses included: Lesch Nyhan syndrome (2), succinic semialdehyde dehydrogenase (SSADH) deficiency (2), and phenylketonuria (1) (2.7%). Additional metabolic disturbances suggestive of IEMs included two patients whose increased urine 3-OH-IVA was accompanied by elevated methylcitrate and lactate in sera, and 30 patients that showed abnormal glucose-loading tests. In the latter group, 16/30 patients manifested increased sera beta hydroxybutyrate (b-OH-b) production and 18/30 had a paradoxical increase of sera lactate. Six patients with elevated b-OH-b in sera showed improved autistic features following implementation of a ketogenic diet (KD). Five patients showed decreased serum ketone body production with glucose loading. Twelve of 187 patients demonstrated non-specific MRI pathology, while 25/187 had abnormal electroencephalogram (EEG) findings. Finally, family history was positive for 22/187 patients (1st or 2nd degree relative with comparable symptomatology) and consanguinity was documented for 12/187 patients. Our data provide evidence for a new biomarker (3-OH-IVA) and novel treatment approaches in ASD patients. Concise 1 sentence take-home message: Detailed metabolic screening in a Greek cohort of ASD patients revealed biomarkers (urine 3-hydroxyisovaleric acid and serum b-OH-b) in 7% (13/187) of patients for whom biotin supplementation or institution of a KD resulted in mild to significant clinical improvement in autistic features.
C1 [Spilioti, Martha] Aristotle Univ Thessaloniki, Dept Pediat 1, AHEPA Hosp, Thessaloniki 56429, Greece.
[Evangeliou, Athanasios E.; Tramma, Despoina; Haidopoulou, A.; Asprangathou, Despoina] Aristotle Univ Thessaloniki, Dept Pediat 4, Papageorgiou Hosp, Thessaloniki 56429, Greece.
[Theodoridou, Zoe] St Lukes Hosp, Dept Special Educ Needs, Thessaloniki, Greece.
[Metaxas, Spyridon] Aristotle Univ Thessaloniki, ENT Dept 2, Papageorgiou Hosp, Thessaloniki 56429, Greece.
[Michailidi, Eleni] Univ Crete, Dept Pediat, Med Sch, Iraklion, Greece.
[Bonti, Eleni] Aristotle Univ Thessaloniki, Dept Pediat, Papageorgiou Hosp, Thessaloniki 56429, Greece.
[Frysira, Helen] Univ Athens, Dept Pediat, Med Sch, Agia Sophia Childrens Hosp, Athens, Greece.
[Tsalkidis, Aggelos J.] Univ Thrace, Dept Pediat, Med Sch, Alexandroupolis, Greece.
[Kardaras, Panagiotis] Aristotle Univ Thessaloniki, Dept Pediat 3, Hippokrat Hosp, Thessaloniki 56429, Greece.
[Wevers, Ron A.] RUNMC, Lab Genet Endocrine & Metab Dis, Dept Lab Med, Nijmegen, Netherlands.
[Jakobs, Cornelis] Vrije Univ Amsterdam, Metab Unit, Dept Clin Chem, Med Ctr, Amsterdam, Netherlands.
[Gibson, K. Michael] Washington State Univ, Sect Clin Pharmacol, Coll Pharm, Spokane, WA USA.
RP Evangeliou, AE (reprint author), Aristotle Univ Thessaloniki, Dept Pediat 4, Div Child Neurol & Metab Dis, Papageorgiou Hosp, Ring Rd, Thessaloniki 56429, Greece.
EM aeevange@auth.gr
RI Wevers, Ron/H-8116-2014
OI Wevers, Ron/0000-0003-2278-9746
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NR 29
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 DEC 24
PY 2013
VL 7
AR 858
DI 10.3389/fnhum.2013.00858
PG 7
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA 283JA
UT WOS:000329241100001
PM 24399946
ER
PT J
AU Gordon, I
Vander Wyk, BC
Bennett, RH
Cordeaux, C
Lucas, MV
Eilbott, JA
Zagoory-Sharon, O
Leckman, JF
Feldman, R
Pelphrey, KA
AF Gordon, Ilanit
Vander Wyk, Brent C.
Bennett, Randi H.
Cordeaux, Cara
Lucas, Molly V.
Eilbott, Jeffrey A.
Zagoory-Sharon, Orna
Leckman, James F.
Feldman, Ruth
Pelphrey, Kevin A.
TI Oxytocin enhances brain function in children with autism
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
ID INTRANASAL OXYTOCIN; SPECTRUM DISORDERS; SOCIAL COGNITION; DIAGNOSTIC
INTERVIEW; ASPERGER-SYNDROME; REVISED VERSION; NEURAL BASIS;
VASOPRESSIN; BEHAVIOR; MIND
AB Following intranasal administration of oxytocin (OT), we measured, via functional MRI, changes in brain activity during judgments of socially (Eyes) and nonsocially (Vehicles) meaningful pictures in 17 children with high-functioning autism spectrum disorder (ASD). OT increased activity in the striatum, the middle frontal gyrus, the medial prefrontal cortex, the right orbitofrontal cortex, and the left superior temporal sulcus. In the striatum, nucleus accumbens, left posterior superior temporal sulcus, and left premotor cortex, OT increased activity during social judgments and decreased activity during nonsocial judgments. Changes in salivary OT concentrations from baseline to 30 min postadministration were positively associated with increased activity in the right amygdala and orbitofrontal cortex during social vs. nonsocial judgments. OT may thus selectively have an impact on salience and hedonic evaluations of socially meaningful stimuli in children with ASD, and thereby facilitate social attunement. These findings further the development of a neurophysiological systems-level understanding of mechanisms by which OT may enhance social functioning in children with ASD.
C1 [Gordon, Ilanit; Vander Wyk, Brent C.; Bennett, Randi H.; Cordeaux, Cara; Lucas, Molly V.; Eilbott, Jeffrey A.; Pelphrey, Kevin A.] Yale Univ, Yale Child Study Ctr, Ctr Translat Dev Neurosci, New Haven, CT 06520 USA.
[Gordon, Ilanit; Feldman, Ruth] Bar Ilan Univ, Dept Psychol, IL-52900 Ramat Gan, Israel.
[Zagoory-Sharon, Orna; Feldman, Ruth] Bar Ilan Univ, Gonda Multidisciplinary Brain Res Ctr, IL-52900 Ramat Gan, Israel.
[Leckman, James F.; Feldman, Ruth] Yale Univ, Sch Med, Yale Child Study Ctr, New Haven, CT 06520 USA.
RP Gordon, I (reprint author), Yale Univ, Yale Child Study Ctr, Ctr Translat Dev Neurosci, New Haven, CT 06520 USA.
EM ilanit.gordon@yale.edu
FU Harris Family Professorship; Lee Foundation Postdoctoral Award;
Binational Science Foundation
FX We are grateful to the children and families who participated in this
study. We thank Osama Abdelghany from the Yale New Haven Hospital
Investigational Drug Services. We also thank Allison Jack for her
technical help. A Harris Family Professorship (to K. A. P.), a Lee
Foundation Postdoctoral Award (to I. G.), and a grant from the
Binational Science Foundation (to R. F., K. A. P., I. G., and J.F.L.)
supported this research.
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NR 68
TC 37
Z9 37
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 DEC 24
PY 2013
VL 110
IS 52
BP 20953
EP 20958
DI 10.1073/pnas.1312857110
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 277ZW
UT WOS:000328858800036
PM 24297883
ER
PT J
AU Humble, MB
Uvnas-Moberg, K
Engstrom, I
Bejerot, S
AF Humble, Mats B.
Uvnas-Moberg, Kerstin
Engstrom, Ingemar
Bejerot, Susanne
TI Plasma oxytocin changes and anti-obsessive response during serotonin
reuptake inhibitor treatment: a placebo controlled study
SO BMC PSYCHIATRY
LA English
DT Article
DE Obsessive-compulsive disorder; Oxytocin/plasma; Serotonin; Serotonin
uptake inhibitors; Treatment response; Randomized controlled trial;
Autism spectrum disorder; Placebo response
ID CEREBROSPINAL-FLUID NEUROCHEMISTRY; MAJOR DEPRESSIVE DISORDER; LONG-TERM
FLUOXETINE; COMPULSIVE DISORDER; INTRANASAL OXYTOCIN; SOCIAL-BEHAVIOR;
PANIC DISORDER; CSF OXYTOCIN; HUMAN BRAIN; MALE-RATS
AB Background: The drug treatments of choice for obsessive-compulsive disorder (OCD) are serotonin reuptake inhibitors (SRIs). However, a correlation between the neuropeptide oxytocin in cerebrospinal fluid and the severity of OCD has previously been shown, and oxytocin and serotonin are interconnected within the brain. Few studies have investigated whether SRIs have any effect on oxytocin; thus, our aim was to explore the possibility that oxytocinergic mechanisms contribute to the anti-obsessive effect of SRIs.
Method: In a randomized, double-blind trial, comparing SRIs (clomipramine and paroxetine) with placebo in 36 adults with OCD (characterized for subtypes), plasma oxytocin was measured with radioimmunoassay after plasma extraction, at baseline, after 1 week, and after 4 weeks of treatment, and related to baseline severity and clinical response after 12 weeks, as measured by the Yale-Brown Obsessive Compulsive Scale (Y-BOCS).
Results: Baseline oxytocin levels correlated positively with baseline Y-BOCS ratings, but only among the future SRI responders. Patients with early onset of OCD had higher baseline oxytocin. During treatment, plasma oxytocin did not differ between SRI and placebo treatment. In SRI responders, plasma oxytocin first decreased and then increased; in non-responders (to SRI as well as to placebo), the reverse was the case. After 4 weeks, treatment responders had attained higher oxytocin levels compared to non-responders. The intra-individual range (i.e. the variability) of plasma oxytocin between measurements was the measure that best differentiated responders from non-responders. This range was higher in responders than non-responders, and lower in patients with autistic traits.
Conclusions: SRIs have highly variable effects on plasma oxytocin between individuals. The associations between baseline oxytocin and OCD severity and between oxytocin changes and treatment response support the notions that oxytocin is involved in OCD pathophysiology, and that the anti-obsessive effects of SRIs are partly exerted through oxytocinergic mechanisms.
C1 [Humble, Mats B.; Engstrom, Ingemar] Univ Orebro, Sch Hlth & Med Sci, Orebro Cty Council, Psychiat Res Ctr, SE-70182 Orebro, Sweden.
[Uvnas-Moberg, Kerstin] Swedish Univ Agr Sci, Dept Anim Environm & Hlth, Skara, Sweden.
[Bejerot, Susanne] Karolinska Inst, Dept Clin Neurosci, Stockholm, Sweden.
[Humble, Mats B.] Psychiat Res Ctr, SE-70116 Orebro, Sweden.
RP Humble, MB (reprint author), Univ Orebro, Sch Hlth & Med Sci, Orebro Cty Council, Psychiat Res Ctr, SE-70182 Orebro, Sweden.
EM mats.humble@oru.se
FU Orebro County Council; Swedish Medical Research Council [2011-3646];
Orebro University
FX MBH was supported by funding from Orebro County Council and Orebro
University. SB acknowledges support from grant 2011-3646, received from
the Swedish Medical Research Council. The funding sources were not
involved in any part of the study, in the writing of the manuscript or
the decision to publish.
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NR 86
TC 1
Z9 1
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 DEC 23
PY 2013
VL 13
AR 344
DI 10.1186/1471-244X-13-344
PG 14
WC Psychiatry
SC Psychiatry
GA 282HB
UT WOS:000329160000001
PM 24359174
ER
PT J
AU Aitkin, CD
Santos, EM
Kowler, E
AF Aitkin, Cordelia D.
Santos, Elio M.
Kowler, Eileen
TI Anticipatory Smooth Eye Movements in Autism Spectrum Disorder
SO PLOS ONE
LA English
DT Article
ID SLOW OCULOMOTOR CONTROL; PREDICTIVE PURSUIT; VOLUNTARY CONTROL; TARGET
MOTIONS; IMPLIED MOTION; OCULAR PURSUIT; INITIATION; PERCEPTION;
DEFICITS; EXPECTATIONS
AB Smooth pursuit eye movements are important for vision because they maintain the line of sight on targets that move smoothly within the visual field. Smooth pursuit is driven by neural representations of motion, including a surprisingly strong influence of high-level signals representing expected motion. We studied anticipatory smooth eye movements (defined as smooth eye movements in the direction of expected future motion) produced by salient visual cues in a group of high-functioning observers with Autism Spectrum Disorder (ASD), a condition that has been associated with difficulties in either generating predictions, or translating predictions into effective motor commands. Eye movements were recorded while participants pursued the motion of a disc that moved within an outline drawing of an inverted Y-shaped tube. The cue to the motion path was a visual barrier that blocked the untraveled branch (right or left) of the tube. ASD participants showed strong anticipatory smooth eye movements whose velocity was the same as that of a group of neurotypical participants. Anticipatory smooth eye movements appeared on the very first cued trial, indicating that trial-by-trial learning was not responsible for the responses. These results are significant because they show that anticipatory capacities are intact in high-functioning ASD in cases where the cue to the motion path is highly salient and unambiguous. Once the ability to generate anticipatory pursuit is demonstrated, the study of the anticipatory responses with a variety of types of cues provides a window into the perceptual or cognitive processes that underlie the interpretation of events in natural environments or social situations.
C1 [Aitkin, Cordelia D.; Santos, Elio M.; Kowler, Eileen] Rutgers State Univ, Dept Psychol, Piscataway, NJ 08854 USA.
RP Kowler, E (reprint author), Rutgers State Univ, Dept Psychol, Piscataway, NJ 08854 USA.
EM kowler@rci.rutgers.edu
FU NJ Governor's Council for medical research and treatment of autism
[10-403-SCH-E-0]
FX This work was supported by grant 10-403-SCH-E-0 from the NJ Governor's
Council for medical research and treatment of autism. The funders had no
role in study design, data collection and analysis, decision to publish,
or preparation of the manuscript.
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NR 60
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD DEC 23
PY 2013
VL 8
IS 12
AR e83230
DI 10.1371/journal.pone.0083230
PG 11
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 278IG
UT WOS:000328882000071
PM 24376667
ER
PT J
AU Dunn, AG
Mandl, KD
Coiera, E
Bourgeois, FT
AF Dunn, Adam G.
Mandl, Kenneth D.
Coiera, Enrico
Bourgeois, Florence T.
TI The Effects of Industry Sponsorship on Comparator Selection in Trial
Registrations for Neuropsychiatric Conditions in Children
SO PLOS ONE
LA English
DT Article
ID RANDOMIZED-CONTROLLED-TRIALS; CLINICAL-TRIALS; COMPARATIVE EFFICACY;
YOUNG-ADULTS; TRENDS; MEDICATIONS; NETWORKS; ADOLESCENTS; PERSPECTIVE;
PATTERNS
AB Pediatric populations continue to be understudied in clinical drug trials despite the increasing use of pharmacotherapy in children, particularly with psychotropic drugs. Most pertinent to the clinical selection of drug interventions are trials directly comparing drugs against other drugs. The aim was to measure the prevalence of active drug comparators in neuropsychiatric drug trials in children and identify the effects of funding source on comparator selection. We analyzed the selection of drugs and drug comparisons in clinical trials registered between January 2006 and May 2012. Completed and ongoing interventional trials examining treatments for six neuropsychiatric conditions in children were included. Networks of drug comparisons for each condition were constructed using information about the trial study arms. Of 421 eligible trial registrations, 228 (63,699 participants) were drug trials addressing ADHD (106 trials), autism spectrum disorders (47), unipolar depression (16), seizure disorders (38), migraines and other headaches (15), or schizophrenia (11). Active drug comparators were used in only 11.0% of drug trials while 44.7% used a placebo control and 44.3% no drug or placebo comparator. Even among conditions with well-established pharmacotherapeutic options, almost all drug interventions were compared to a placebo. Active comparisons were more common among trials without industry funding (17% vs. 8%, p=0.04). Trials with industry funding differed from non-industry trials in terms of the drugs studied and the comparators selected. For 73% (61/84) of drugs and 90% (19/21) of unique comparisons, trials were funded exclusively by either industry or non-industry. We found that industry and non-industry differed when choosing comparators and active drug comparators were rare for both groups. This gap in pediatric research activity limits the evidence available to clinicians treating children and suggests a need to reassess the design and funding of pediatric trials in order to optimize the information derived from pediatric participation in clinical trials.
C1 [Dunn, Adam G.; Coiera, Enrico] Univ New S Wales, Ctr Hlth Informat, Australian Inst Hlth Innovat, Sydney, NSW, Australia.
[Mandl, Kenneth D.] Boston Childrens Hosp, Childrens Hosp Informat Program, Harvard MIT Hlth Sci & Technol, Boston, MA USA.
[Mandl, Kenneth D.; Bourgeois, Florence T.] Boston Childrens Hosp, Div Emergency Med, Boston, MA 02115 USA.
[Mandl, Kenneth D.; Bourgeois, Florence T.] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA.
RP Bourgeois, FT (reprint author), Boston Childrens Hosp, Div Emergency Med, Boston, MA 02115 USA.
EM florence.bourgeois@childrens.harvard.edu
FU National Institute of Child Health and Human Development [1R21HD072382];
National Health and Medical Research Council [568612, 1045065]
FX This study was supported by National Institute of Child Health and Human
Development (1R21HD072382) and the National Health and Medical Research
Council (Program Grant 568612 and Project Grant 1045065). The funders
had no role in study design, data collection and analysis, decision to
publish, or preparation of the manuscript.
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*WHO COLL CTR DRUG, METH INT LANG DRUG U, P24955
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NR 44
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 DEC 23
PY 2013
VL 8
IS 12
DI 10.1371/journal.pone.0084951
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 278IG
UT WOS:000328882000171
PM 24376857
ER
PT J
AU Hou, ZG
Zhang, J
Schwartz, MP
Stewart, R
Page, CD
Murphy, WL
Thomson, JA
AF Hou, Zhonggang
Zhang, Jue
Schwartz, Michael P.
Stewart, Ron
Page, C. David
Murphy, William L.
Thomson, James A.
TI A human pluripotent stem cell platform for assessing developmental
neural toxicity screening
SO STEM CELL RESEARCH & THERAPY
LA English
DT Review
DE developmental neural toxicity; human pluripotent stem cells; machine
learning; three-dimensional hydrogel culture; Microphysiological Systems
initiative
ID CHILDRENS HEALTH; VALPROIC ACID; DIFFERENTIATION; TERATOGENICITY;
TOXICOLOGY; EXPOSURE; RISK
AB A lack of affordable and effective testing and screening procedures mean surprisingly little is known about the health hazards of many of the tens of thousands of chemicals in use in the world today. The recent rise in the number of children affected by neurological disorders such as autism has stirred valuable debate about the role chemicals play in our daily life, highlighting the need for improved methods of assessing chemicals for developmental neural toxicity. Current methods of testing chemicals for developmental neural toxicity include animal testing with rats or mice and in vitro testing using cultured primary cells or cell lines. Here, we review the current state of neural toxicity screening, analyze the limitations of these methods and, under the National Institutes of Health's new Microphysiological Systems initiative, describe a human pluripotent stem cell-based platform for developmental neural toxicity screens.
C1 [Hou, Zhonggang; Zhang, Jue; Stewart, Ron; Thomson, James A.] Morgridge Inst Res, Madison, WI 53715 USA.
[Schwartz, Michael P.; Murphy, William L.] Univ Wisconsin, Coll Engn, Dept Biomed Engn, Madison, WI 53706 USA.
[Page, C. David] Univ Wisconsin, Dept Biostat & Med Informat, Madison, WI 53792 USA.
[Murphy, William L.] Univ Wisconsin, Sch Med & Publ Hlth, Dept Orthoped & Rehabil, Madison, WI 53705 USA.
[Thomson, James A.] Univ Wisconsin, Sch Med & Publ Hlth, Dept Cell & Regenerat Biol, Madison, WI 53706 USA.
[Thomson, James A.] Univ Calif Santa Barbara, Dept Mol Cellular & Dev Biol, Santa Barbara, CA 93106 USA.
RP Thomson, JA (reprint author), Morgridge Inst Res, 330 N Orchard St, Madison, WI 53715 USA.
EM jthomson@morgridgeinstitute.org
RI Murphy, William/I-4096-2014
FU NIH [1UH2TR000506-01]
FX This work, and the publication costs of this article, was funded by NIH
grant 1UH2TR000506-01 (to JAT).
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NR 34
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1757-6512
J9 STEM CELL RES THER
JI Stem Cell Res. Ther.
PD DEC 20
PY 2013
VL 4
SU 1
AR S12
DI 10.1186/scrt373
PG 5
WC Cell Biology; Medicine, Research & Experimental
SC Cell Biology; Research & Experimental Medicine
GA 286DG
UT WOS:000329444700013
PM 24565336
ER
PT J
AU Sgado, P
Provenzano, G
Dassi, E
Adami, V
Zunino, G
Genovesi, S
Casarosa, S
Bozzi, Y
AF Sgado, Paola
Provenzano, Giovanni
Dassi, Erik
Adami, Valentina
Zunino, Giulia
Genovesi, Sacha
Casarosa, Simona
Bozzi, Yuri
TI Transcriptome profiling in engrailed-2 mutant mice reveals common
molecular pathways associated with autism spectrum disorders
SO MOLECULAR AUTISM
LA English
DT Article
DE En2; Neurodevelopmental disorders; Mouse models; Immune response;
Synaptic function; Scn1a; Grm5; Nrxn3
ID SEVERE MYOCLONIC EPILEPSY; CEREBELLAR PURKINJE-CELLS;
DOPAMINERGIC-NEURONS; HOMEOBOX GENES; SYNAPSE FORMATION; KNOCKOUT MICE;
EN-2 HOMEOBOX; MOUSE MODEL; ABNORMALITIES; NEUROBIOLOGY
AB Background: Transcriptome analysis has been used in autism spectrum disorder (ASD) to unravel common pathogenic pathways based on the assumption that distinct rare genetic variants or epigenetic modifications affect common biological pathways. To unravel recurrent ASD-related neuropathological mechanisms, we took advantage of the En2(-/-) mouse model and performed transcriptome profiling on cerebellar and hippocampal adult tissues.
Methods: Cerebellar and hippocampal tissue samples from three En2(-/-) and wild type (WT) littermate mice were assessed for differential gene expression using microarray hybridization followed by RankProd analysis. To identify functional categories overrepresented in the differentially expressed genes, we used integrated gene-network analysis, gene ontology enrichment and mouse phenotype ontology analysis. Furthermore, we performed direct enrichment analysis of ASD-associated genes from the SFARI repository in our differentially expressed genes.
Results: Given the limited number of animals used in the study, we used permissive criteria and identified 842 differentially expressed genes in En2(-/-) cerebellum and 862 in the En2(-/-) hippocampus. Our functional analysis revealed that the molecular signature of En2(-/-) cerebellum and hippocampus shares convergent pathological pathways with ASD, including abnormal synaptic transmission, altered developmental processes and increased immune response. Furthermore, when directly compared to the repository of the SFARI database, our differentially expressed genes in the hippocampus showed enrichment of ASD-associated genes significantly higher than previously reported. qPCR was performed for representative genes to confirm relative transcript levels compared to those detected in microarrays.
Conclusions: Despite the limited number of animals used in the study, our bioinformatic analysis indicates the En2(-/-) mouse is a valuable tool for investigating molecular alterations related to ASD.
C1 [Sgado, Paola; Provenzano, Giovanni; Zunino, Giulia; Genovesi, Sacha; Bozzi, Yuri] Univ Trento, Ctr Integrat Biol CIBIO, Lab Mol Neuropathol, I-38123 Trento, Italy.
[Dassi, Erik] Univ Trento, Ctr Integrat Biol CIBIO, Lab Translat Gen, I-38123 Trento, Italy.
[Adami, Valentina] Univ Trento, Ctr Integrat Biol CIBIO, High Throughput Screening Core Facil, I-38123 Trento, Italy.
[Casarosa, Simona] Univ Trento, Ctr Integrat Biol CIBIO, Dev Neurobiol Lab, I-38123 Trento, Italy.
[Casarosa, Simona; Bozzi, Yuri] CNR, Inst Neurosci, I-56124 Pisa, Italy.
RP Sgado, P (reprint author), Univ Trento, Ctr Integrat Biol CIBIO, Lab Mol Neuropathol, Via Regole 101, I-38123 Trento, Italy.
EM sgado@science.unitn.it
FU Provincia Autonoma di Trento and the European Community's FP7 [FP7 -
PCOFUND-GA-2008- 226070]; Italian Ministry of University and Research
(PRIN) [200894SYW2_002]; University of Trento (CIBIO); PRIN
[2010N8PBAA_002]
FX P.S. is supported by Provincia Autonoma di Trento and the European
Community's FP7/2007-2013 under grant agreement Marie Curie FP7 -
PCOFUND-GA-2008- 226070 'progetto Trentino', project EnCort. This work
was funded by the Italian Ministry of University and Research (PRIN 2008
grant # 200894SYW2_002 and PRIN 2010-2011 grant # 2010N8PBAA_002 to
Y.B.) and the University of Trento (CIBIO start-up grant to S.C. and
Y.B.). We thank Andrea Messina, Federico Vaggi and Tommaso Schiavinotto
for helpful discussions, and Patrizia Paoli for administrative support.
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NR 60
TC 4
Z9 4
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 DEC 19
PY 2013
VL 4
AR 51
DI 10.1186/2040-2392-4-51
PG 12
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA 291OG
UT WOS:000329837400001
PM 24355397
ER
PT J
AU Haessler, F
Gaese, F
Colla, M
Huss, M
Kretschmar, C
Brinkman, M
Schieb, H
Peters, H
Elstner, S
Pittrow, D
AF Haessler, Frank
Gaese, Franziska
Colla, Michael
Huss, Michael
Kretschmar, Christoph
Brinkman, Marc
Schieb, Heike
Peters, Helmut
Elstner, Samuel
Pittrow, David
TI EXPLAIN Fragile-X: an explorative, longitudinal study on the
characterization, treatment pathways, and patient-related outcomes of
Fragile X Syndrome
SO BMC PSYCHIATRY
LA English
DT Article
DE Observational trial; Longitudinal; Patient-related outcomes; Health
care; Outcomes; Ambulatory setting; Quality of life; Caregiver burden
ID PARENT SURVEY; INDIVIDUALS; AUTISM; CHECKLIST; SYMPTOMS; ADULTS; SKILLS;
LIFE
AB Background: Fragile X syndrome (FXS), caused by a mutation of the FMR1 gene on the X chromosome, is the most common inherited form of intellectual disability and autism spectrum disorders. Comprehensive data are lacking, however, on the characteristics and management patients with FXS in Germany.
Methods/design: EXPLAIN is a prospective, observational, longitudinal registry with a non-probability sampling approach. It collects data on patient characteristics, therapeutic interventions, psychosocial parameters (including those of family members and caregivers), quality of life of caregiver and patient, caregiver burden, and health economic parameters, such as hospitalisation time. It is designed to include data from 300 patients in ambulatory care from about 50 centres that employ psychiatrists, paediatricians, neurologists, and other relevant specialists, in Germany. The study was initiated in March, 2013. Patients will be followed for at least two years.
Discussion: The registry is expected to provide much-needed data on the characteristics and management of patients with FXS in Germany. It will also allow comparisons with other countries, and will enable gap analyses based on current guidelines for management of these patients.
C1 [Haessler, Frank] Univ Med Rostock, Zentrum Nervenheilkunde, Klin Psychiat Neurol Psychosomat & Psychotherapie, Rostock, Germany.
[Gaese, Franziska] Klinikum Munchen Ost, Isar Amper Klinikum gGmbH, Abt Psychiat Therapie Menschen Geistiger Behinder, Haar, Germany.
[Colla, Michael] Charite Campus Berlin Buch, Expt & Clin Res Ctr, Berlin, Germany.
[Colla, Michael] Charite Campus Mitte, Dept Psychiat & Psychotherapy, Berlin, Germany.
[Huss, Michael; Peters, Helmut] Rheinhessen Fachklin Mainz, Mainz, Germany.
[Kretschmar, Christoph] Stadt Krankenhaus Dresden Neustadt, Zentrum Kinder & Jugendmed, Sozialpadiatr Zentrum, Dresden, Germany.
[Brinkman, Marc; Schieb, Heike] Novartis Pharma GmbH, Med Abt, Nurnberg, Germany.
[Elstner, Samuel] Evangel Krankenhaus Konigin Elisabeth Herzberge g, Abt Psychiat Psychotherapie & Psychosomat, Berliner Behandlungszentrum, Berlin, Germany.
[Pittrow, David] Tech Univ Dresden, Fak Med, Inst Klin Pharmakol, D-01062 Dresden, Germany.
RP Haessler, F (reprint author), Univ Med Rostock, Zentrum Nervenheilkunde, Klin Psychiat Neurol Psychosomat & Psychotherapie, Rostock, Germany.
EM frank.haessler@med.uni-rostock.de
CR [Anonymous], MEDDRA MED DICT REG
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NR 35
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 DEC 19
PY 2013
VL 13
AR 339
DI 10.1186/1471-244X-13-339
PG 5
WC Psychiatry
SC Psychiatry
GA 282GX
UT WOS:000329159600001
PM 24354947
ER
PT J
AU Gilbert, JA
Krajmalnik-Brown, R
Porazinska, DL
Weiss, SJ
Knight, R
AF Gilbert, Jack A.
Krajmalnik-Brown, Rosa
Porazinska, Dorota L.
Weiss, Sophie J.
Knight, Rob
TI Toward Effective Probiotics for Autism and Other Neurodevelopmental
Disorders
SO CELL
LA English
DT Editorial Material
ID GUT MICROBIOTA
AB Hsaio and colleagues link gut microbes to autism spectrum disorders (ASD) in a mouse model. They show that ASD symptoms are triggered by compositional and structural shifts of microbes and associated metabolites, but symptoms are relieved by a Bacteroides fragilis probiotic. Thus probiotics may provide therapeutic strategies for neurodevelopmental disorders.
C1 [Gilbert, Jack A.] Argonne Natl Lab, Inst Genom & Syst Biol, Argonne, IL 60439 USA.
[Gilbert, Jack A.] Univ Chicago, Dept Ecol & Evolut, Chicago, IL 60637 USA.
[Krajmalnik-Brown, Rosa] Arizona State Univ, Swette Ctr Environm Biotechnol, Biodesign Inst, Tempe, AZ 85287 USA.
[Krajmalnik-Brown, Rosa] Arizona State Univ, Sch Sustainable Engn & Built Environm, Tempe, AZ 85287 USA.
[Porazinska, Dorota L.; Weiss, Sophie J.; Knight, Rob] Univ Colorado, Dept Chem & Biochem, Boulder, CO 80309 USA.
[Porazinska, Dorota L.; Weiss, Sophie J.; Knight, Rob] Univ Colorado, BioFrontiers Inst, Boulder, CO 80309 USA.
[Knight, Rob] Univ Colorado, Howard Hughes Med Inst, Boulder, CO 80309 USA.
RP Knight, R (reprint author), Univ Colorado, Dept Chem & Biochem, Campus Box 215, Boulder, CO 80309 USA.
EM rob.knight@colorado.edu
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NR 11
TC 8
Z9 8
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 DEC 19
PY 2013
VL 155
IS 7
BP 1446
EP 1448
DI 10.1016/j.cell.2013.11.035
PG 3
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA 275QW
UT WOS:000328693300002
PM 24360269
ER
PT J
AU Hsiao, EY
McBride, SW
Hsien, S
Sharon, G
Hyde, ER
McCue, T
Codelli, JA
Chow, J
Reisman, SE
Petrosino, JF
Patterson, PH
Mazmanian, SK
AF Hsiao, Elaine Y.
McBride, Sara W.
Hsien, Sophia
Sharon, Gil
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McCue, Tyler
Codelli, Julian A.
Chow, Janet
Reisman, Sarah E.
Petrosino, Joseph F.
Patterson, Paul H.
Mazmanian, Sarkis K.
TI Microbiota Modulate Behavioral and Physiological Abnormalities
Associated with Neurodevelopmental Disorders
SO CELL
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; GASTROINTESTINAL DYSFUNCTION; INTESTINAL
MICROBIOTA; GUT MICROBIOTA; BRAIN; CHILDREN; DISEASE; MOUSE; ACTIVATION;
MICROFLORA
AB Neurodevelopmental disorders, including autism spectrum disorder (ASD), are defined by core behavioral impairments; however, subsets of individuals display a spectrum of gastrointestinal (GI) abnormalities. We demonstrate GI barrier defects and microbiota alterations in the maternal immune activation (MIA) mouse model that is known to display features of ASD. Oral treatment of MIA offspring with the human commensal Bacteroides fragilis corrects gut permeability, alters microbial composition, and ameliorates defects in communicative, stereotypic, anxiety-like and sensorimotor behaviors. MIA offspring display an altered serum metabolomic profile, and B. fragilis modulates levels of several metabolites. Treating naive mice with a metabolite that is increased by MIA and restored by B. fragilis causes certain behavioral abnormalities, suggesting that gut bacterial effects on the host metabolome impact behavior. Taken together, these findings support a gut-microbiome-brain connection in a mouse model of ASD and identify a potential probiotic therapy for GI and particular behavioral symptoms in human neurodevelopmental disorders.
C1 [Hsiao, Elaine Y.; McBride, Sara W.; Hsien, Sophia; Sharon, Gil; Chow, Janet; Patterson, Paul H.; Mazmanian, Sarkis K.] CALTECH, Div Biol & Biol Engn, Pasadena, CA 91125 USA.
[Hsiao, Elaine Y.; Codelli, Julian A.; Reisman, Sarah E.] CALTECH, Div Chem & Chem Engn, Pasadena, CA 91125 USA.
[Hyde, Embriette R.; McCue, Tyler; Petrosino, Joseph F.] Baylor Coll Med, Alkek Ctr Metagenom & Microbiome Res, Houston, TX 77030 USA.
RP Hsiao, EY (reprint author), CALTECH, Div Biol & Biol Engn, Pasadena, CA 91125 USA.
EM ehsiao@caltech.edu; php@caltech.edu; sarkis@caltech.edu
FU Caltech Innovation Fellowship; Autism Speaks Weatherstone Fellowship;
NIH/NRSA Predoctoral Fellowship; Human Frontiers Science Program
Fellowship; DOD Graduate Fellowship; NSF Graduate Research Fellowship;
Autism Speaks Trailblazer Award; Caltech Innovation Initiative; Caltech
Grubstake Awards; Congressionally Directed Medical Research Award;
Weston Havens Award; Callie D. McGrath Charitable Foundation; NIMH
[MH100556]
FX We acknowledge Reyna Sauza, Jaime Rodriguez, and Taren Thron for caring
for the animals; Dr. Michael Fischbach (UCSF) for advising on pathways
of 4EPS and indolepyruvate synthesis; Dr. Nadim Ajami (Baylor) for
providing helpful comments on the manuscript; Greg Donaldson (Caltech)
for conducting experiments on microbial viability; Dr. Kym Faull (UCLA)
for conducting pilot GC/MS experiments; Dr. Alessio Fasano
(Massachusetts General) for conducting pilot microbiota sequencing
experiments; and Dr. Jerrold Turner (U Chicago) for providing
histological analysis of intestinal sections. This work was supported by
a Caltech Innovation Fellowship (to E.Y.H.), Autism Speaks Weatherstone
Fellowship (to E.Y.H.), NIH/NRSA Predoctoral Fellowship (to E.Y.H.),
Human Frontiers Science Program Fellowship (to G. S.), DOD Graduate
Fellowship (to J.A.C.), NSF Graduate Research Fellowship (to J.A.C.),
Autism Speaks Trailblazer Award (to P. H. P. and S. K. M.), Caltech
Innovation Initiative (to P. H. P. and S. K. M.), Caltech Grubstake
Awards (to P. H. P. and S. K. M), Congressionally Directed Medical
Research Award (to P. H. P. and S. K. M.), Weston Havens Award (to P. H.
P. and S. K. M.), Callie D. McGrath Charitable Foundation awards (to P.
H. P.) and NIMH grant MH100556 (to P. H. P. and S.K.M.).
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NR 65
TC 116
Z9 123
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 DEC 19
PY 2013
VL 155
IS 7
BP 1451
EP 1463
DI 10.1016/j.cell.2013.11.024
PG 13
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA 275QW
UT WOS:000328693300004
PM 24315484
ER
PT J
AU Money, KM
Stanwood, GD
AF Money, Kelli M.
Stanwood, Gregg D.
TI Developmental origins of brain disorders: roles for dopamine
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Review
DE neurodevelopment; frontal cortex; striatum; D1 receptor; D2 receptor;
neuropsychiatricdisease; dendrite; migration
ID MEDIUM SPINY NEURONS; CEREBRAL CORTICAL-NEURONS; DEVELOPING RAT-BRAIN;
LATERAL GANGLIONIC EMINENCE; CHRONIC RESERPINE TREATMENT; ENHANCES
NEURITE OUTGROWTH; PRENATAL COCAINE EXPOSURE; AUTISM SPECTRUM DISORDER;
MEDIAL PREFRONTAL CORTEX; RECEPTOR MESSENGER-RNA
AB Neurotransmitters and neuromodulators, such as dopamine, participate in a wide range of behavioral and cognitive functions in the adult brain, including movement, cognition, and reward. Dopamine-mediated signaling plays a fundamental neurodevelopmental role in forebrain differentiation and circuit formation. These developmental effects, such as modulation of neuronal migration and dendritic growth, occur before synaptogenesis and demonstrate novel roles for dopaminergic signaling beyond neuromodulation at the synapse. Pharmacologic and genetic disruptions demonstrate that these effects are brain region- and receptor subtype-specific. For example, the striatum and frontal cortex exhibit abnormal neuronal structure and function following prenatal disruption of dopamine receptor signaling. Alterations in these processes are implicated in the pathophysiology of neuropsychiatric disorders, and emerging studies of neurodevelopmental disruptions may shed light on the pathophysiology of abnormal neuronal circuitry in neuropsychiatric disorders.
C1 [Money, Kelli M.] Vanderbilt Univ, Grad Program Neurosci, Nashville, TN 37232 USA.
[Money, Kelli M.] Vanderbilt Univ, Vanderbilt Med Scientist Training Program, Nashville, TN 37232 USA.
[Stanwood, Gregg D.] Vanderbilt Univ, Dept Pharmacol, Nashville, TN 37232 USA.
[Stanwood, Gregg D.] Vanderbilt Univ, Vanderbilt Kennedy Ctr Res Human Dev, Nashville, TN 37232 USA.
RP Stanwood, GD (reprint author), Vanderbilt Univ, Dept Pharmacol, 23rd Ave South,476 Robinson Res Bldg, Nashville, TN 37232 USA.
EM gregg.stanwood@vanderbilt.edu
FU Vanderbilt MSTP program; [RO1MH086629]; [P30HD15052]
FX We thank Devon Graham, Emily Ross, and Pratik Talati for helping to edit
the manuscript and Deirdre McCarthy for contributing artwork. We also
thank Kylie Beck for our illustrations; this service is supported by
P30HD15052. This work is supported by RO1MH086629 (Gregg D. Stanwood)
and the Vanderbilt MSTP program.
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NR 225
TC 13
Z9 14
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 DEC 19
PY 2013
VL 7
DI 10.3389/fncel.2013.00260
PG 14
WC Neurosciences
SC Neurosciences & Neurology
GA 274WW
UT WOS:000328637900001
PM 24391541
ER
PT J
AU Hviid, A
Melbye, M
Pasternak, B
AF Hviid, Anders
Melbye, Mads
Pasternak, Bjorn
TI Use of Selective Serotonin Reuptake Inhibitors during Pregnancy and Risk
of Autism
SO NEW ENGLAND JOURNAL OF MEDICINE
LA English
DT Article
ID SPECTRUM DISORDERS; ANTIDEPRESSANT USE; DANISH; DEPRESSION; FETAL;
REGISTER; BEHAVIOR
AB BackgroundStudies have raised concern about an association between the use of selective serotonin reuptake inhibitors (SSRIs) during pregnancy and an increased risk of autism spectrum disorders in the offspring.
MethodsWe conducted a cohort study of all singleton live births in Denmark from 1996 through 2005 (626,875 births), with follow-up through 2009. Using Danish population registries, we linked information on maternal use of SSRIs before and during pregnancy, autism spectrum disorders diagnosed in the offspring, and a range of potential confounders. We used a survival analysis of the time to diagnosis in the offspring with Poisson regression to estimate rate ratios of autism spectrum disorders according to maternal use of SSRIs.
ResultsDuring 5,057,282 person-years of follow-up, we identified 3892 cases of autism spectrum disorder (incidence rate, 77.0 per 100,000 person-years). A total of 52 cases during 42,400 person-years of follow-up involved offspring of women who were exposed to SSRIs during their pregnancy (incidence rate, 122.6 per 100,000 person-years). As compared with no use of SSRIs both before and during pregnancy, use during pregnancy was not associated with a significantly increased risk of autism spectrum disorders (fully adjusted rate ratio, 1.20; 95% confidence interval [CI], 0.90 to 1.61). Among women who received SSRIs before pregnancy but not during pregnancy, the corresponding fully adjusted rate ratio was 1.46 (95% CI, 1.17 to 1.81).
ConclusionsWe did not detect a significant association between maternal use of SSRIs during pregnancy and autism spectrum disorder in the offspring. On the basis of the upper boundary of the confidence interval, our study could not rule out a relative risk up to 1.61, and therefore the association warrants further study. (Funded by the Danish Health and Medicines Authority.)
C1 [Hviid, Anders; Melbye, Mads; Pasternak, Bjorn] Statens Serum Inst, Dept Epidemiol Res, DK-2300 Copenhagen S, Denmark.
RP Hviid, A (reprint author), Statens Serum Inst, Dept Epidemiol Res, Artillerivej 5, DK-2300 Copenhagen S, Denmark.
EM aii@ssi.dk
RI Pasternak, Bjorn/H-5739-2012
OI Pasternak, Bjorn/0000-0002-2097-8466
FU Danish Health and Medicines Authority
FX Supported by the Danish Health and Medicines Authority.
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NR 24
TC 15
Z9 16
PU MASSACHUSETTS MEDICAL SOC
PI WALTHAM
PA WALTHAM WOODS CENTER, 860 WINTER ST,, WALTHAM, MA 02451-1413 USA
SN 0028-4793
EI 1533-4406
J9 NEW ENGL J MED
JI N. Engl. J. Med.
PD DEC 19
PY 2013
VL 369
IS 25
BP 2406
EP 2415
DI 10.1056/NEJMoa1301449
PG 10
WC Medicine, General & Internal
SC General & Internal Medicine
GA 274DQ
UT WOS:000328586000008
PM 24350950
ER
PT J
AU Jones, W
Klin, A
AF Jones, Warren
Klin, Ami
TI Attention to eyes is present but in decline in 2-6-month-old infants
later diagnosed with autism
SO NATURE
LA English
DT Article
ID SPECTRUM DISORDERS; BIOLOGICAL MOTION; FUNCTIONAL DATA; DERIVATIVES;
CHILDREN; CONTACT; BABY
AB Deficits in eye contact have been a hallmark of autism(1,2) since the condition's initial description(3). They are cited widely as a diagnostic feature(4) and figure prominently in clinical instruments(5); however, the early onset of these deficits has not been known. Here we show in a prospective longitudinal study that infants later diagnosed with autism spectrum disorders (ASDs) exhibit mean decline in eye fixation from 2 to 6 months of age, a pattern not observed in infants who do not develop ASD. These observations mark the earliest known indicators of social disability in infancy, but also falsify a prior hypothesis: in the first months of life, this basic mechanism of social adaptive action-eye looking-is not immediately diminished in infants later diagnosed with ASD; instead, eye looking appears to begin at normative levels prior to decline. The timing of decline highlights a narrow developmental window and reveals the early derailment of processes that would otherwise have a key role in canalizing typical social development. Finally, the observation of this decline in eye fixation-rather than outright absence-offers a promising opportunity for early intervention that could build on the apparent preservation of mechanisms subserving reflexive initial orientation towards the eyes.
C1 [Jones, Warren; Klin, Ami] Childrens Healthcare Atlanta, Marcus Autism Ctr, Atlanta, GA 30329 USA.
[Jones, Warren; Klin, Ami] Emory Univ, Sch Med, Dept Pediat, Div Autism & Related Disabil, Atlanta, GA 30022 USA.
[Jones, Warren; Klin, Ami] Emory Univ, Ctr Translat Social Neurosci, Atlanta, GA 30022 USA.
RP Jones, W (reprint author), Childrens Healthcare Atlanta, Marcus Autism Ctr, Atlanta, GA 30329 USA.
EM warren.jones@emory.edu; ami.klin@emory.edu
FU Simons Foundation; National Institute of Mental Health [R01 MH083727];
Marcus Foundation; Whitehead Foundation; Georgia Research Alliance
FX This work was supported by grants from the Simons Foundation and the
National Institute of Mental Health (R01 MH083727). Additional support
was provided by the Marcus Foundation, the Whitehead Foundation, and the
Georgia Research Alliance. We wish to thank the families and children
for their time and participation. We also wish to thank S. Habayeb, S.
Glazer, M. Ly, T. Tsang, J. Jones, A. Trubanova, J. Borjon, J. Moriuchi,
K. Rice, J. Northrup, L. Edwards, J. Xu, S. Shultz, A. Krasno, C.
Zampella, K. Knoch, D. Lin, K. Carr and A. Blank for their assistance in
data collection and processing; P. Lewis, J. Paredes, P. Gorrindo and M.
Ackerman for assistance in designing and building laboratory hardware
and software; G. Ramsay and C. McCracken for discussions of data
analysis and statistics; I. Zilber, A. Margolis, D. Blum, M. Dye, D.
Simeone, A. Smith and K. O'Loughlin for project supervision,
coordination, and data collection; T. Babitz for administrative support;
and K. Chawarska, C. Saulnier, K. Bearss, S. Macari, R. Paul, A. Carney,
T. Goldsmith, A. Steiner, G. Gengoux, D. Goudreau, E. Loring, J. McGrath
and A. Gupta for their contributions to the clinical characterization of
the samples.
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NR 37
TC 55
Z9 58
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 DEC 19
PY 2013
VL 504
IS 7480
BP 427
EP +
DI 10.1038/nature12715
PG 17
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 273ZR
UT WOS:000328575300050
PM 24196715
ER
PT J
AU Buxbaum, JD
Baron-Cohen, S
AF Buxbaum, Joseph D.
Baron-Cohen, Simon
TI Capping four years of growth of Molecular Autism: impact factor coming
in 2014
SO MOLECULAR AUTISM
LA English
DT Editorial Material
C1 [Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, Dept Psychiat, Friedman Brain Inst, New York, NY 10029 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, Dept Neurosci, Friedman Brain Inst, New York, NY 10029 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, Dept Genet & Genom Sci, Friedman Brain Inst, New York, NY 10029 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA.
[Baron-Cohen, Simon] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge CB2 8AH, England.
RP Buxbaum, JD (reprint author), Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, Dept Psychiat, Friedman Brain Inst, New York, NY 10029 USA.
EM joseph.buxbaum@mssm.edu; sb205@cam.ac.uk
NR 0
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 DEC 16
PY 2013
VL 4
PG 1
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AC2LV
UT WOS:000332333500001
ER
PT J
AU Shah, P
Gaule, A
Bird, G
Cook, R
AF Shah, Punit
Gaule, Anne
Bird, Geoffrey
Cook, Richard
TI Robust orienting to protofacial stimuli in autism
SO CURRENT BIOLOGY
LA English
DT Editorial Material
C1 [Shah, Punit; Gaule, Anne; Cook, Richard] City Univ London, Dept Psychol, London EC1R OJD, England.
[Shah, Punit; Bird, Geoffrey] Kings Coll London, Inst Psychiat, Social Genet & Dev Psychiat Ctr, MRC, London SE5 8AF, England.
[Gaule, Anne] UCL, Div Psychol & Language Sci, London WC1N 3AR, England.
[Bird, Geoffrey] UCL, Inst Cognit Neurosci, London WC1N 3AR, England.
RP Shah, P (reprint author), City Univ London, Dept Psychol, London EC1R OJD, England.
EM Richard.Cook.1@city.ac.uk
CR Chevallier C, 2012, TRENDS COGN SCI, V16, P231, DOI 10.1016/j.tics.2012.02.007
Dawson G, 2005, DEV NEUROPSYCHOL, V27, P403, DOI 10.1207/s15326942dn2703_6
Farroni T, 2005, P NATL ACAD SCI USA, V102, P17245, DOI 10.1073/pnas.0502205102
Fischer J., 2013, CLIN PSYCHO IN PRESS
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NR 10
TC 5
Z9 5
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0960-9822
EI 1879-0445
J9 CURR BIOL
JI Curr. Biol.
PD DEC 16
PY 2013
VL 23
IS 24
BP R1087
EP R1088
DI 10.1016/j.cub.2013.10.034
PG 2
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA 278VV
UT WOS:000328918900012
PM 24355781
ER
PT J
AU Diaz-Anzaldua, A
Diaz-Martinez, A
AF Diaz-Anzaldua, Adriana
Diaz-Martinez, Alejandro
TI Genetic, environmental, and epigenetic contribution to the
susceptibility to autism spectrum disorders
SO REVISTA DE NEUROLOGIA
LA Portuguese
DT Review
DE Autism; Autistic disorder; Autism spectrum disorders; Environment and
autism; Epigenetics and autism; Genetics of autism; Genetics of autism
spectrum disorders; Medical genetics; Multifactorial inheritance
ID COPY-NUMBER VARIATION; DE-NOVO MUTATIONS; GENOME-WIDE SCAN;
MENTAL-RETARDATION; SOCIAL-INTERACTION; MOUSE MODEL; SCREEN; MICE;
MECP2; RISK
AB Introduction. Autism spectrum disorders (ASD) are common and complex neuropsychiatric disorders in which multiple factors may contribute to the phenotype.
Aim. To review current knowledge about possible risk factors for ASD.
Development. Medline, OMIM and Ensembl databases were searched for possible risk factors, disease and gene information.
Conclusions. There is genetic heterogeneity and probably different modes of transmission in ASD. In addition, many cases are related with non-inherited de novo mutations or uncommon alleles with a large effect. The general heritability in these disorders may be lower than previously reported. Some fraction of it may be explained by relatively common alleles that tend to have a small effect. To some extent, susceptibility alleles may have a different influence on the phenotype depending on other genetic or non-genetic factors. Non-genetic factors in the perinatal and postnatal period, including epigenetics, the age of the father and possibly the age of grandparents at conception may be relevant for ASD. The mechanisms involved in the etiology of ASD may be related with synaptic development and connectivity, neurotransmission, signaling, neuroplasticity, and gene expression. Different methods have contributed to understand the etiology of ASD. Linkage and association studies are not appropriate for ASD cases with de novo mutations with a strong effect. The observed increase in ASD prevalence may be related not only with more awareness, changing diagnostic criteria, and environmental exposures, but also with epigenetic changes, and an increasing number of de novo mutations.
C1 [Diaz-Anzaldua, Adriana] Inst Nacl Psiquiatria Ramon Fuente Muniz, Subdirecc Invest Clin, Dept Genet Psiquiatr, Mexico City 14370, DF, Mexico.
[Diaz-Martinez, Alejandro] Univ Nacl Autonoma Mexico, Fac Med, Dept Psiquiatr & Salud Mental, Mexico City 04510, DF, Mexico.
RP Diaz-Anzaldua, A (reprint author), Inst Nacl Psiquiatria Ramon Fuente Muniz, 101 Col San Lorenzo Huipulco, Mexico City 14370, DF, Mexico.
EM adiaza2@imp.edu.mx
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NR 84
TC 1
Z9 2
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 DEC 16
PY 2013
VL 57
IS 12
BP 556
EP 568
PG 13
WC Clinical Neurology
SC Neurosciences & Neurology
GA 277KV
UT WOS:000328819000005
PM 24288105
ER
PT J
AU Hagberg, BS
Nyden, A
Cederlund, M
Gillberg, C
AF Hagberg, Bibbi S.
Nyden, Agneta
Cederlund, Mats
Gillberg, Christopher
TI Asperger syndrome and "non-verbal learning problems" in a longitudinal
perspective: Neuropsychological and social adaptive outcome in early
adult life
SO PSYCHIATRY RESEARCH
LA English
DT Article
DE NLD; AS; Neurocognitive function; Social adaption; Global functioning
ID HIGH-FUNCTIONING AUTISM; PROFILES; DISORDERS; VALIDITY; CHILDREN;
POPULATION
AB Co-existence of Asperger syndrome (AS) and non-verbal learning disability (NLD) has been proposed based on the observation that people with AS tend to have significantly higher verbal than performance IQ (VIQ>PIQ by >= 15 points), one of the core features of NLD. In the present study we examined neuropsychological and social adaptive profiles with "non-verbal learning problems" associated with NLD in a group of individuals with AS followed from childhood into early adult life. The group was divided into three subgroups: (i) persistent NLD (P-NLD), i.e. NLD (VIQ> PIQ) both in childhood and early adulthood occasions, (ii) childhood NLD (CO-NLD), i.e. NLD (VIQ> PIQ) only at original diagnosis, or (iii) No NLD (VIQ> PIQ) ever (NO-NLD). All three subgroups were followed prospectively from childhood into adolescence and young adult life. One in four to one in five of the whole group of males with AS had P-NLD. The P-NLD subgroup had poorer neuropsychological outcome in early adult life than did those with CO-NLD and those with NO-NLD. There were no unequivocal markers in early childhood that predicted subgroup status in early adult life, but early motor delay and a history of early speech-language problems tended to be associated with P-NLD. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
C1 [Hagberg, Bibbi S.; Cederlund, Mats; Gillberg, Christopher] Univ Gothenburg, Sahlgrenska Acad, Gillberg Neuropsychiat Ctr, SE-41119 Gothenburg, Sweden.
[Nyden, Agneta] Gothenburg Univ, Sahlgrenska Acad, Gothenburg, Sweden.
RP Hagberg, BS (reprint author), Univ Gothenburg, Sahlgrenska Acad, Gillberg Neuropsychiat Ctr, Kungsgatan 12, SE-41119 Gothenburg, Sweden.
EM bibbi.hagberg@gnc.gu.se; agneta.nyden@vgregion.se;
mats.cederlund@vgregion.se; christopher.gillberg@gnc.gu.se
FU Wilhelm and Martina Lundgrens Foundation; Swedish Science Council
FX The study was supported by grants from the Wilhelm and Martina Lundgrens
Foundation and from the Swedish Science Council for Christopher
Gillberg.
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NR 43
TC 2
Z9 2
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-1781
J9 PSYCHIAT RES
JI Psychiatry Res.
PD DEC 15
PY 2013
VL 210
IS 2
BP 553
EP 558
DI 10.1016/j.psychres.2013.06.006
PG 6
WC Psychiatry
SC Psychiatry
GA 273EU
UT WOS:000328518600029
PM 23871410
ER
PT J
AU Lesniak, WG
Jyoti, A
Mishra, MK
Louissaint, N
Romero, R
Chugani, DC
Kannan, S
Kannan, RM
AF Lesniak, Wojciech G.
Jyoti, Amar
Mishra, Manoj K.
Louissaint, Nicolette
Romero, Roberto
Chugani, Diane C.
Kannan, Sujatha
Kannan, Rangaramanujam M.
TI Concurrent quantification of tryptophan and its major metabolites
SO ANALYTICAL BIOCHEMISTRY
LA English
DT Article
DE Kynurenine pathway; Serotonin; Kynurenic acid; Tryptophan metabolites;
HPLC
ID PERFORMANCE LIQUID-CHROMATOGRAPHY; KYNURENIC ACID; HUMAN SERUM;
GASTROINTESTINAL-TRACT; FLUORESCENCE DETECTION; MASS-SPECTROMETRY;
AMNIOTIC-FLUID; RABBIT BRAIN; AMINO-ACIDS; RAT PLASMA
AB An imbalance in tryptophan (TRP) metabolites is associated with several neurological and inflammatory disorders. Therefore, analytical methods allowing for simultaneous quantification of TRP and its major metabolites would be highly desirable, and may be valuable as potential biomarkers. We have developed a HPLC method for concurrent quantitative determination of tryptophan, serotonin, 5-hydroxyindoleacetic acid, kynurenine, and kynurenic acid in tissue and fluids. The method utilizes the intrinsic spectroscopic properties of TRP and its metabolites that enable UV absorbance and fluorescence detection by HPLC, without additional labeling. The origin of the peaks related to analytes of interest was confirmed by UV-Vis spectral patterns using a PDA detector and mass spectrometry. The developed methods were validated in rabbit fetal brain and amniotic fluid at gestational day 29. Results are in excellent agreement with those reported in the literature for the same regions. This method allows for rapid quantification of tryptophan and four of its major metabolites concurrently. A change in the relative ratios of these metabolites can provide important insights in predicting the presence and progression of neuroinflammation in disorders such as cerebral palsy, autism, multiple sclerosis, Alzheimer disease, and schizophrenia. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Lesniak, Wojciech G.; Mishra, Manoj K.; Kannan, Rangaramanujam M.] Wayne State Univ, Childrens Hosp Michigan, Dept Chem Engn & Mat Sci, Detroit, MI 48202 USA.
[Lesniak, Wojciech G.; Mishra, Manoj K.; Louissaint, Nicolette; Kannan, Rangaramanujam M.] Johns Hopkins Univ, Dept Ophthalmol, Ctr Nanomed, Sch Med, Baltimore, MD 21287 USA.
[Lesniak, Wojciech G.; Jyoti, Amar; Mishra, Manoj K.; Romero, Roberto; Kannan, Rangaramanujam M.] NICHHD, Perinatol Res Branch, NIH, DHHS, Detroit, MI 48201 USA.
[Lesniak, Wojciech G.; Jyoti, Amar; Mishra, Manoj K.; Romero, Roberto; Kannan, Rangaramanujam M.] NICHHD, Perinatol Res Branch, NIH, DHHS, Bethesda, MD 20892 USA.
[Jyoti, Amar; Kannan, Sujatha] Johns Hopkins Univ, Dept Anesthesiol & Crit Care Med, Sch Med, Baltimore, MD 21287 USA.
[Chugani, Diane C.] Wayne State Univ, Childrens Hosp Michigan, Carman & Ann Adams Dept Pediat, Detroit, MI 48202 USA.
RP Kannan, RM (reprint author), Johns Hopkins Sch Med, Dept Ophthalmol, Ctr Nanomed, Baltimore, MD 21218 USA.
EM krangar1@jhmi.edu
FU Perinatology Research Branch, Division of Intramural Research, Eunice
Kennedy Shriver National Institute of Child Health and Human Development
(NICHD), NIH; NICHD [R01HD069562]
FX This research was supported in part by the Perinatology Research Branch,
Division of Intramural Research, Eunice Kennedy Shriver National
Institute of Child Health and Human Development (NICHD), NIH, and by
R01HD069562, NICHD (S.K.).
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NR 36
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 0003-2697
EI 1096-0309
J9 ANAL BIOCHEM
JI Anal. Biochem.
PD DEC 15
PY 2013
VL 443
IS 2
BP 222
EP 231
DI 10.1016/j.ab.2013.09.001
PG 10
WC Biochemical Research Methods; Biochemistry & Molecular Biology;
Chemistry, Analytical
SC Biochemistry & Molecular Biology; Chemistry
GA 255ZQ
UT WOS:000327279700017
PM 24036037
ER
PT J
AU Murdoch, JD
Speed, WC
Pakstis, AJ
Heffelfinger, CE
Kidd, KK
AF Murdoch, John D.
Speed, William C.
Pakstis, Andrew J.
Heffelfinger, Christopher E.
Kidd, Kenneth K.
TI Worldwide Population Variation and Haplotype Analysis at the Serotonin
Transporter Gene SLC6A4 and Implications for Association Studies
SO BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Depression; haplotype; genetics; serotonin; serotonin transporter;
SLC6A4
ID PROMOTER REGION; AFFECTIVE-DISORDERS; POLYMORPHISM; EXPRESSION;
SUSCEPTIBILITY; AUTISM; ALLELE; SNP; GENOTYPES; VARIANTS
AB Background: Variation at the serotonin transporter gene, SLC6A4, has been associated with a variety of neuropsychiatric disorders and could be involved in other health-related phenotypes.
Methods: To determine the extent of variation at SLC6A4, we genotyped 23 markers on approximately 2500 individuals from 47 global populations, including the promoter variable number tandem repeat (VNTR) and 2 single nucleotide polymorphisms (SNPs) immediately flanking its variable region (rs25531 and rs25532), the intron 2 VNTR, and 19 additional SNPs.
Results: We observed several rare alleles at the promoter VNTR (some novel) and population-specific distributions of the reported functional SNPs rs25531, rs25532, and rs6355, as well as two alleles at the intron 2 VNTR. Alleles of interest at the VNTRs occurred on specific haplotype backgrounds. The repeat-number variants at the promoter VNTR and the intron 2 VNTR, as well as the putative functional SNPs, showed ethnic variation in frequencies. The more common alleles at the VNTR polymorphisms show wide geographic distributions, whereas rare alleles at both show more restricted distributions. The derived alleles at the two functional SNPs in the promoter VNTR show restricted distributions and occur primarily on different repeat number alleles.
Conclusions: Our findings illustrate significant variation worldwide at SLC6A4 and that the functionally implicated alleles at the SNPs rs25531, rs25532, and rs6355 occur on limited haplotypes and vary significantly in global distribution. Association studies at SLC6A4 cannot a priori extrapolate across populations and should account for the multiple polymorphisms with possible functional variation across this locus, rather than focusing solely on one or two polymorphisms as commonly seen.
C1 [Murdoch, John D.; Speed, William C.; Pakstis, Andrew J.; Heffelfinger, Christopher E.; Kidd, Kenneth K.] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA.
RP Murdoch, JD (reprint author), Anlyan Ctr S330, 1 Gilbert St, New Haven, CT 06519 USA.
EM john.murdoch@aya.yale.edu
FU National Institutes of Health [GM057672]
FX This research was supported in part by National Institutes of Health
Grant No. GM057672 to Kenneth K. Kidd.
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NR 35
TC 10
Z9 10
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 DEC 15
PY 2013
VL 74
IS 12
BP 879
EP 889
DI 10.1016/j.biopsych.2013.02.006
PG 11
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 252DC
UT WOS:000326983900010
PM 23510579
ER
PT J
AU Mike, A
Strammer, E
Aradi, M
Orsi, G
Perlaki, G
Hajnal, A
Sandor, J
Banati, M
Illes, E
Zaitsev, A
Herold, R
Guttmann, CRG
Illes, Z
AF Mike, Andrea
Strammer, Erzsebet
Aradi, Mihaly
Orsi, Gergely
Perlaki, Gabor
Hajnal, Andras
Sandor, Janos
Banati, Miklos
Illes, Eniko
Zaitsev, Alexander
Herold, Robert
Guttmann, Charles R. G.
Illes, Zsolt
TI Disconnection Mechanism and Regional Cortical Atrophy Contribute to
Impaired Processing of Facial Expressions and Theory of Mind in Multiple
Sclerosis: A Structural MRI Study
SO PLOS ONE
LA English
DT Article
ID HIGH-FUNCTIONING AUTISM; SURFACE-BASED ANALYSIS; WHITE-MATTER TRACTS;
COGNITIVE IMPAIRMENT; SOCIAL COGNITION; ASPERGER-SYNDROME;
CEREBRAL-CORTEX; NEURAL SYSTEMS; FACE PERCEPTION; NORMAL ADULTS
AB Successful socialization requires the ability of understanding of others' mental states. This ability called as mentalization (Theory of Mind) may become deficient and contribute to everyday life difficulties in multiple sclerosis. We aimed to explore the impact of brain pathology on mentalization performance in multiple sclerosis. Mentalization performance of 49 patients with multiple sclerosis was compared to 24 age-and gender matched healthy controls. T1- and T2-weighted three-dimensional brain MRI images were acquired at 3Tesla from patients with multiple sclerosis and 18 gender- and age matched healthy controls. We assessed overall brain cortical thickness in patients with multiple sclerosis and the scanned healthy controls, and measured the total and regional T1 and T2 white matter lesion volumes in patients with multiple sclerosis. Performances in tests of recognition of mental states and emotions from facial expressions and eye gazes correlated with both total T1-lesion load and regional T1-lesion load of association fiber tracts interconnecting cortical regions related to visual and emotion processing (genu and splenium of corpus callosum, right inferior longitudinal fasciculus, right inferior fronto-occipital fasciculus, uncinate fasciculus). Both of these tests showed correlations with specific cortical areas involved in emotion recognition from facial expressions (right and left fusiform face area, frontal eye filed), processing of emotions (right entorhinal cortex) and socially relevant information (left temporal pole). Thus, both disconnection mechanism due to white matter lesions and cortical thinning of specific brain areas may result in cognitive deficit in multiple sclerosis affecting emotion and mental state processing from facial expressions and contributing to everyday and social life difficulties of these patients.
C1 [Mike, Andrea; Strammer, Erzsebet; Banati, Miklos; Illes, Eniko; Illes, Zsolt] Univ Pecs, Div Clin & Expt Neuroimmunol, Dept Neurol, Pecs, Hungary.
[Aradi, Mihaly; Orsi, Gergely; Perlaki, Gabor] Univ Pecs, Diagnost Ctr Pecs, Pecs, Hungary.
[Hajnal, Andras; Herold, Robert] Univ Pecs, Dept Psychiat & Psychotherapy, Pecs, Hungary.
[Sandor, Janos] Univ Debrecen, Fac Publ Hlth, H-4012 Debrecen, Hungary.
[Mike, Andrea; Zaitsev, Alexander; Guttmann, Charles R. G.] Harvard Univ, Brigham & Womens Hosp, Sch Med, Ctr Neurol Imaging,Dept Radiol, Boston, MA 02115 USA.
[Mike, Andrea; Zaitsev, Alexander; Guttmann, Charles R. G.] Harvard Univ, Brigham & Womens Hosp, Sch Med, Ctr Neurol Imaging,Dept Neurol, Boston, MA 02115 USA.
[Orsi, Gergely; Perlaki, Gabor; Illes, Zsolt] MTA PTE Clin Neurosci MR Res Grp, Pecs, Hungary.
[Illes, Zsolt] Univ Southern Denmark, Odense Univ Hosp, Inst Clin Res, Dept Neurol, Odense, Denmark.
RP Illes, Z (reprint author), Univ Pecs, Div Clin & Expt Neuroimmunol, Dept Neurol, Pecs, Hungary.
EM zsolt.illes@aok.pte.hu
FU Multiple Sclerosis International Federation; European Economic
Area/Norwegian Financial Mechanism HU [0114]; National Bureau of
Research Development, HKTH INNODIAG; American Recovery and Reinvestment
Act supplement (National Institute of Biomedical Imaging and
Bioengineering) [P41 RR13218, P41 EB015898]; National Multiple Sclerosis
Society [RG3574A1]; Hungarian National Research Fund [OTKA K77892];
Hungarian Neuroimaging Foundation; TAMOP - Tarsadalmi Megujulas Operativ
Program (Social Renewal Operational Programme) [4.2.2.A-11]
FX Andrea Mike was a recipient of the 2008 McDonald Fellowship from the
Multiple Sclerosis International Federation. Mihaly Aradi, Gergely Orsi,
and Gabor Perlaki were supported by the grants of European Economic
Area/Norwegian Financial Mechanism HU 0114; and National Bureau of
Research Development, HKTH INNODIAG. Alexander Zaitsev was supported by
an American Recovery and Reinvestment Act supplement to NAC - Neuroimage
Analysis Center (National Institutes of Health National Center for
Research Resources P41 RR13218 which is now National Institute of
Biomedical Imaging and Bioengineering P41 EB015898). Charles RG Guttmann
was supported by the National Multiple Sclerosis Society (Grant
RG3574A1). Zsolt Illes was supported by the Hungarian National Research
Fund (OTKA K77892), the Hungarian Neuroimaging Foundation, and TAMOP -
Tarsadalmi Megujulas Operativ Program (Social Renewal Operational
Programme) 4.2.2.A-11). 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 62
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 DEC 13
PY 2013
VL 8
IS 12
AR e82422
DI 10.1371/journal.pone.0082422
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 276FP
UT WOS:000328734200041
PM 24349280
ER
PT J
AU Jiang, MH
Ash, RT
Baker, SA
Suter, B
Ferguson, A
Park, J
Rudy, J
Torsky, SP
Chao, HT
Zoghbi, HY
Smirnakis, SM
AF Jiang, Minghui
Ash, Ryan T.
Baker, Steven A.
Suter, Bernhard
Ferguson, Andrew
Park, Jiyoung
Rudy, Jessica
Torsky, Sergey P.
Chao, Hsiao-Tuan
Zoghbi, Huda Y.
Smirnakis, Stelios M.
TI Dendritic Arborization and Spine Dynamics Are Abnormal in the Mouse
Model of MECP2 Duplication Syndrome
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; FRAGILE-X-SYNDROME; RETT-SYNDROME; LONG-TERM;
PYRAMIDAL NEURONS; IN-VIVO; SOMATOSENSORY CORTEX; VISUAL-CORTEX; BDNF
TRANSCRIPTION; CEREBRAL-CORTEX
AB MECP2 duplication syndrome is a childhood neurological disorder characterized by intellectual disability, autism, motor abnormalities, and epilepsy. The disorder is caused by duplications spanning the gene encoding methyl-CpG-binding protein-2 (MeCP2), a protein involved in the modulation of chromatin and gene expression. MeCP2 is thought to play a role in maintaining the structural integrity of neuronal circuits. Loss of MeCP2 function causes Rett syndrome and results in abnormal dendritic spine morphology and decreased pyramidal dendritic arbor complexity and spine density. The consequences of MeCP2 overexpression on dendritic pathophysiology remain unclear. We used in vivo two-photon microscopy to characterize layer 5 pyramidal neuron spine turnover and dendritic arborization as a function of age in transgenic mice expressing the human MECP2 gene at twice the normal levels of MeCP2 (Tg1; Collins et al., 2004). We found that spine density in terminal dendritic branches is initially higher in young Tg1 mice but falls below control levels after postnatal week 12, approximately correlating with the onset of behavioral symptoms. Spontaneous spine turnover rates remain high in older Tg1 animals compared with controls, reflecting the persistence of an immature state. Both spine gain and loss rates are higher, with a net bias in favor of spine elimination. Apical dendritic arbors in both simple-and complex-tufted layer 5 Tg1 pyramidal neurons have more branches of higher order, indicating that MeCP2 overexpression induces dendritic overgrowth. P70S6K was hyperphosphorylated in Tg1 somatosensory cortex, suggesting that elevated mTOR signaling may underlie the observed increase in spine turnover and dendritic growth.
C1 [Jiang, Minghui; Ash, Ryan T.; Ferguson, Andrew; Park, Jiyoung; Rudy, Jessica; Torsky, Sergey P.; Zoghbi, Huda Y.; Smirnakis, Stelios M.] Texas Childrens Hosp, Dept Neurosci, Houston, TX 77030 USA.
[Zoghbi, Huda Y.; Smirnakis, Stelios M.] Texas Childrens Hosp, Dept Neurol, Houston, TX 77030 USA.
[Suter, Bernhard; Chao, Hsiao-Tuan; Zoghbi, Huda Y.] Texas Childrens Hosp, Dept Pediat, Houston, TX 77030 USA.
[Suter, Bernhard; Chao, Hsiao-Tuan; Zoghbi, Huda Y.] Baylor Coll Med, Houston, TX 77030 USA.
[Baker, Steven A.; Zoghbi, Huda Y.] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
RP Smirnakis, SM (reprint author), Baylor Coll Med, Dept Neurosci & Neurol, Houston, TX 77030 USA.
EM smirnaki@bcm.edu
FU March of Dimes Foundation; Simons Foundation; CHRCDA (NIH) [KI2 HD4164S]
FX We thank the March of Dimes Foundation and the Simons Foundation for
support (S.S.). B.S. was in part funded through CHRCDA (NIH, KI2
HD4164S). We thank Yu Dong, John Dani, Joseph G. Duman, Peyman Golshani,
Emmanouil Froudarakis, Joanna L. Jankowsky, Ji-yoen Kim, Tang-Cheng Lee,
Ricardo Mostany, Masataka Nishimura, Sanyong Niu, Carlos
Portera-Cailliau, Matt N. Rasband, John Swann, Andreas Tolias, Kimberly
R. Tolias, Kechun Yang, and Chuansheng Zhang for their help with
histological methods and comments on this manuscript.
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NR 86
TC 13
Z9 14
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 DEC 11
PY 2013
VL 33
IS 50
BP 19518
EP 19533
DI 10.1523/JNEUROSCI.1745-13.2013
PG 16
WC Neurosciences
SC Neurosciences & Neurology
GA 274SP
UT WOS:000328626800014
PM 24336718
ER
PT J
AU Hammock, EAD
Levitt, P
AF Hammock, Elizabeth A. D.
Levitt, Pat
TI Oxytocin receptor ligand binding in embryonic tissue and postnatal brain
development of the C57BL/6J mouse
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE oxytocin; adrenal gland; kidney; oronasal cavity; autism;
autoradiography; experience-dependent plasticity; neocortex
ID GENE-EXPRESSION; TRANSIENT EXPRESSION; SOCIAL RECOGNITION; FETAL-BRAIN;
RAT-BRAIN; VASOPRESSIN; MICE; AUTORADIOGRAPHY; PARTURITION; BEHAVIOR
AB Oxytocin (OXT) has drawn increasing attention as a developmentally relevant neuropeptide given its role in the brain regulation of social behavior. It has been suggested that OXT plays an important role in the infant brain during caregiver attachment in nurturing familial contexts, but there is incomplete experimental evidence. Mouse models of OXT system genes have been particularly informative for the role of the OXT system in social behavior, however, the developing brain areas that could respond to ligand activation of the OXT receptor (OXTR) have yet to be identified in this species. Here we report new data revealing dynamic ligand binding distribution of OXTR in the developing mouse brain. Using male and female C57BL/6J mice at postnatal days (P) 0, 7, 14, 21, 35, and 60 we quantified OXTR ligand binding in several brain areas which changed across development. Further, we describe OXTR ligand bindingin select tissues of the near-term whole embryo at E18.5. Together, these data aid in the interpretation of findings in mouse models of the OXT system and generate new testable hypotheses for developmental roles for OXT in mammalian systems. We discuss our findings in the context of developmental disorders (including autism), attachment biology, and infant physiological regulation.
Summary: Quantitative mapping of selective OXTR ligand binding during postnatal development in the mouse reveals an unexpected, transient expression in layers II/III throughout the mouse neocortex. OXTR are also identified in several tissues in the whole late embryo, including the adrenal glands, brown adipose tissue, and the oronasal cavity.
C1 [Hammock, Elizabeth A. D.] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Sch Med, Nashville, TN 37232 USA.
[Hammock, Elizabeth A. D.] Vanderbilt Univ, Dept Pediat, Sch Med, Nashville, TN 37232 USA.
[Levitt, Pat] Childrens Hosp Los Angeles, Dept Pediat, Los Angeles, CA 90027 USA.
[Levitt, Pat] Univ So Calif, Keck Sch Med, Los Angeles, CA 90033 USA.
RP Hammock, EAD (reprint author), Vanderbilt Univ, Dept Pediat, 2215 Garland Ave,Light Hall,Rm 1115, Nashville, TN 37232 USA.
EM liz.hammock@vanderbilt.edu; plevitt@med.usc.edu
FU NIH [MH080759]; NARSAD Young Investigator Award
FX These studies and manuscript preparation were funded by NIH MH080759 to
Pat Levitt and a NARSAD Young Investigator Award to Elizabeth A. D.
Hammock.
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NR 62
TC 4
Z9 4
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 DEC 11
PY 2013
VL 7
DI 10.3389/fnbeh.2013.00195
PG 8
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 268BT
UT WOS:000328143600001
PM 24376405
ER
PT J
AU Lewis, JD
Theilmann, RJ
Townsend, J
Evans, AC
AF Lewis, John D.
Theilmann, Rebecca J.
Townsend, Jeanne
Evans, Alan C.
TI Network efficiency in autism spectrum disorder and its relation to brain
overgrowth
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE autism; brain size; network analysis; connectivity; tractography;
optimal wiring; scaling
ID HIGH-FUNCTIONING AUTISM; CORPUS-CALLOSUM; CEREBRAL-CORTEX; SMALL-WORLD;
INTRACRANIAL VOLUME; HEAD CIRCUMFERENCE; MRI DATA; IN-VIVO; SIZE;
CONNECTIVITY
AB A substantial body of evidence links differences in brain size to differences in brain organization. We have hypothesized that the developmental aspect of this relation plays a role in autism spectrum disorder (ASD), a neurodevelopmental disorder which involves abnormalities in brain growth. Children with ASD have abnormally large brains by the second year of life, and for several years thereafter their brain size can be multiple standard deviations above the norm. The greater conduction delays and cellular costs presumably associated with the longer long-distance connections in these larger brains is thought to influence developmental processes, giving rise to an altered brain organization with less communication between spatially distant regions. This has been supported by computational models and by findings linking greater intra-cranial volume, an index of maximum brain-size during development, to reduced inter-hemispheric connectivity in individuals with ASD. In this paper, we further assess this hypothesis via a whole-brain analysis of network efficiency. We utilize diffusion tractography to estimate the strength and length of the connections between all pairs of cortical regions. We compute the efficiency of communication between each network node and all others, and within local neighborhoods; we then assess the relation of these measures to intra-cranial volume, and the differences in these measures between adults with autism and typical controls. Intra-cranial volume is shown to be inversely related to efficiency for wide-spread regions of cortex. Moreover, the spatial patterns of reductions in efficiency in autism bear a striking resemblance to the regional relationships between efficiency and intra-cranial volume, particularly for local efficiency. The results thus provide further support for the hypothesized link between brain overgrowth in children with autism and the efficiency of the organization of the brain in adults with autism.
C1 [Lewis, John D.; Evans, Alan C.] McGill Univ, Montreal Neurol Inst, McConnell Brain Imaging Ctr, Montreal, PQ H3A 2B4, Canada.
[Theilmann, Rebecca J.] Univ Calif San Diego, Dept Radiol, La Jolla, CA 92093 USA.
[Townsend, Jeanne] Univ Calif San Diego, Dept Neurosci, La Jolla, CA 92093 USA.
[Townsend, Jeanne] Univ Calif San Diego, Res Aging & Dev Lab, La Jolla, CA 92093 USA.
RP Lewis, JD (reprint author), McGill Univ, Montreal Neurol Inst, McConnell Brain Imaging Ctr, 3801 Univ,WB208, Montreal, PQ H3A 2B4, Canada.
EM jlewis@bic.mni.mcgill.ca
FU NIH/NINDS [R01 NS42639]; Canada Foundation for Innovation (CFI);
Government of Quebec; National Scienceand Engineering Research Council
(NSERC); Fonds Quebecois de Recherche sur la Nature et les Technologies
(FQRNT)
FX This research was supported by grant NIH/NINDS R01 NS42639, awarded to
Jeanne Townsend. Computations were performed on the guillimin
supercomputer at the CLUMEQ HPC Consortium (http://www.clumeq.ca). Under
the auspices of Compute Canada, CLUMEQ is funded by the Canada
Foundation for Innovation (CFI), the Government of Quebec, the National
Scienceand Engineering Research Council (NSERC), and the Fonds Quebecois
de Recherche sur la Nature et les Technologies (FQRNT).
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NR 63
TC 5
Z9 5
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 DEC 10
PY 2013
VL 7
DI 10.3389/fnhum.2013.00845
PG 12
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA 284XT
UT WOS:000329356200001
PM 24368901
ER
PT J
AU Eriksson, JM
Andersen, LMJ
Bejerot, S
AF Eriksson, Jonna M.
Andersen, Lisa M. J.
Bejerot, Susanne
TI RAADS-14 Screen: validity of a screening tool for autism spectrum
disorder in an adult psychiatric population
SO MOLECULAR AUTISM
LA English
DT Article
DE Autistic disorder; Asperger syndrome; Adult; Screening; Self-assessment;
Rating scale
ID QUOTIENT AQ; SENSITIVITY; DIAGNOSIS
AB Background: Autism spectrum disorder (ASD) can be difficult to distinguish from other psychiatric disorders. The clinical assessment of ASD is lengthy, and has to be performed by a specialized clinician. Therefore, a screening instrument to aid in the identification of patients who may have undiagnosed ASD should be useful. The purpose of this study was to develop such a screening instrument.
Methods: Based on the 80 item Ritvo Autism and Asperger Diagnostic Scale-Revised (RAADS-R), we developed a 14 item self-evaluation questionnaire, the RAADS-14 Screen. In total, 135 adults with ASD and 508 psychiatric controls completed the abridged version of the RAADS-R.
Results: The RAADS-14 Screen score was significantly higher in the ASD group than in the control samples, with a median score of 32 for ASD, 15 for attention deficit hyperactivity disorder, and 11 for other psychiatric disorders (P < 0.001). A cut-off score of 14 or above reached a sensitivity of 97% and a specificity of 46 to 64%. A factor analysis identified three factors consistent with mentalizing deficits, social anxiety, and sensory reactivity relevant for the diagnosis of ASD. The psychometric properties of RAADS-14 Screen were shown to be satisfactory.
Conclusions: The results of this study indicate that RAADS-14 Screen is a promising measure in screening for ASD in adult psychiatric outpatients.
C1 [Eriksson, Jonna M.; Bejerot, Susanne] Karolinska Inst, Northern Stockholm Psychiat, VUB KogNUS, Dept Clin Neurosci,St Goran Hosp, SE-11281 Stockholm, Sweden.
[Andersen, Lisa M. J.] St Goran Hosp, VUB KogNUS, Northern Stockholm Psychiat, SE-11281 Stockholm, Sweden.
RP Eriksson, JM (reprint author), Karolinska Inst, Northern Stockholm Psychiat, VUB KogNUS, Dept Clin Neurosci,St Goran Hosp, SE-11281 Stockholm, Sweden.
EM jonna.eriksson@ki.se
CR Allison C, 2012, J AM ACAD CHILD PSY, V51, P202, DOI 10.1016/j.jaac.2011.11.003
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 20
TC 2
Z9 2
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD DEC 9
PY 2013
VL 4
AR 49
DI 10.1186/2040-2392-4-49
PG 11
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AC2LS
UT WOS:000332333200002
PM 24321513
ER
PT J
AU Warrier, V
Baron-Cohen, S
Chakrabarti, B
AF Warrier, Varun
Baron-Cohen, Simon
Chakrabarti, Bhismadev
TI Genetic variation in GABRB3 is associated with Asperger syndrome and
multiple endophenotypes relevant to autism
SO MOLECULAR AUTISM
LA English
DT Article
ID HIGH-FUNCTIONING AUTISM; HOMEOBOX-TRANSCRIPTION-FACTOR; NORMAL
SEX-DIFFERENCES; SPECTRUM QUOTIENT AQ; SYSTEMATIZING QUOTIENT;
LINKAGE-DISEQUILIBRIUM; LONGITUDINAL TWIN; EMPATHY QUOTIENT;
ENGRAILED-2; POPULATION
AB Background: Autism spectrum conditions (ASC) are associated with deficits in social interaction and communication, alongside repetitive, restricted, and stereotyped behavior. ASC is highly heritable. The gamma-aminobutyric acid (GABA)-ergic system has been associated consistently with atypicalities in autism, in both genetic association and expression studies. A key component of the GABA-ergic system is encoded by the GABRB3 gene, which has been previously implicated both in ASC and in individual differences in empathy.
Methods: In this study, 45 genotyped single nucleotide polymorphisms (SNPs) within GABRB3 were tested for association with Asperger syndrome (AS), and related quantitative traits measured through the following tests: the Empathy Quotient (EQ), the Autism Spectrum Quotient (AQ), the Systemizing Quotient-Revised (SQ-R), the Embedded Figures Test (EFT), the Reading the Mind in the Eyes Test (RMET), and the Mental Rotation Test (MRT). Two-loci, three-loci, four-loci haplotype analyses, and one seven-loci haplotype analysis were also performed in the AS case-control sample.
Results: Three SNPs (rs7180158, rs7165604, rs12593579) were significantly associated with AS, and two SNPs (rs9806546, rs11636966) were significantly associated with EQ. Two SNP-SNP pairs, rs12438141-rs1035751 and rs12438141-rs7179514, showed significant association with variation in the EFT scores. One SNP-SNP pair, rs7174437-rs1863455, was significantly associated with variation in the MRT scores. Additionally, a few haplotypes, including a 19 kb genomic region that formed a linkage disequilibrium (LD) block in our sample and contained several nominally significant SNPs, were found to be significantly associated with AS.
Conclusion: The current study confirms the role of GABRB3 as an important candidate gene in both ASC and normative variation in related endophenotypes.
C1 [Warrier, Varun; Baron-Cohen, Simon; Chakrabarti, Bhismadev] Univ Cambridge, Autism Res Ctr, Dept Psychiat, Cambridge CB2 1TN, England.
[Baron-Cohen, Simon] Cambridgeshire & Peterborough NHS Fdn Trust CPFT, CLASS Clin, Cambridge, England.
[Chakrabarti, Bhismadev] Univ Reading, Sch Psychol & Clin Language Sci, Ctr Integrat Neurosci & Neurodynam, Reading, Berks, England.
RP Warrier, V (reprint author), Univ Cambridge, Autism Res Ctr, Dept Psychiat, Cambridge CB2 1TN, England.
EM vw260@medschl.cam.ac.uk; b.chakrabarti@reading.ac.uk
FU Target Autism Genome; Nancy Lurie Marks (NLM) Family Foundation; Autism
Research Trust; Medical Research Council UK; Wellcome Trust Sanger
Centre; Max Planck Institute for Psycholinguistics; Nehru Trust for
Cambridge University; Cambridge Commonwealth Trust
FX This study was funded by two project grants from Target Autism Genome,
the Nancy Lurie Marks (NLM) Family Foundation, The Autism Research
Trust, the Medical Research Council UK, the Wellcome Trust Sanger
Centre, and the Max Planck Institute for Psycholinguistics. VW was
funded by the Nehru Trust for Cambridge University, and the Cambridge
Commonwealth Trust. BC was funded by the Medical Research Council UK.
The study was conducted in association with the NIHR CLAHRC for
Cambridgeshire and Peterborough. We are grateful to Robert Plomin, Frank
Dudbridge, Lindsey Kent, and Ian Craig for valuable discussions, and to
Laura Murphy, Jonathan Breidbord, Allen Chan, Sylvia Lakatosova, Sally
Wheelwright, Carrie Allison, Uma Mallya, Alex Politt, and the late Leena
Peltonen for assistance at different stages of the project. Simon Fisher
provided partial funding for the project. This study was submitted in
part fulfillment of the degree of MPhil by VW to the University of
Cambridge.
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NR 55
TC 4
Z9 4
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 DEC 9
PY 2013
VL 4
AR 48
DI 10.1186/2040-2392-4-48
PG 11
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AC2LS
UT WOS:000332333200001
PM 24321478
ER
PT J
AU Landry, O
Parker, A
AF Landry, Oriane
Parker, Ashton
TI A meta-analysis of visual orienting in autism
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE visual orienting; Posner task; autism; meta-analysis; attention
ID HIGH-FUNCTIONING AUTISM; SPECTRUM-DISORDERS; SPATIAL ATTENTION;
GAZE-CUES; EYE GAZE; CHILDREN; DISENGAGEMENT; DIRECTION; MOVEMENT;
SHIFTS
AB Background: Visual orienting is inconsistently reported to be impaired in autism.
Methods: We conducted a meta-analysis on visual orienting in autism. We focused on studies that used a Posner-type task. A total of 18 research papers published between 1993 and 2011 were included in our meta-analysis. We examined the effects of differences in experimental design as well as differences in participant samples. We examined both orienting reaction times of participants with autism, and the effect size relative to comparison group in each experiment.
Results: We found that participants with autism oriented across conditions (mean orienting effect = 40.73 ms), which was of an overall smaller magnitude than that of comparison groups (Cohen's d = 0.44). Participants with autism were most impaired on arrow cue tasks, and least impaired on eye-gaze cue tasks, more impaired with rapid trials, and the impairment increased with age.
Conclusions: Variations in experimental design and participant age group contribute to whether participants with autism appear impaired at visual orienting. Critical gaps exist in the literature; developmental studies are needed across and comparing broader age ranges, and more attention should be focused on basic endogenous orienting processes.
C1 [Landry, Oriane; Parker, Ashton] Dalhousie Univ, Dept Psychol, Halifax, NS, Canada.
RP Landry, O (reprint author), McMaster Univ, 1280 Main St West, Hamilton, ON L8S 4K1, Canada.
EM landryo@mcmaster.ca
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NR 36
TC 3
Z9 3
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD DEC 9
PY 2013
VL 7
AR 833
DI 10.3389/fnhum.2013.00833
PG 12
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA 268HK
UT WOS:000328160800002
PM 24367314
ER
PT J
AU Neufeld, J
Roy, M
Zapf, A
Sinke, C
Emrich, HM
Prox-Vagedes, V
Dillo, W
Zedler, M
AF Neufeld, Janina
Roy, Mandy
Zapf, Antonia
Sinke, Christopher
Emrich, Hinderk M.
Prox-Vagedes, Vanessa
Dillo, Wolfgang
Zedler, Markus
TI Is synesthesia more common in patients with Asperger syndrome?
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE Asperger syndrome; autism; synesthesia; prevalence; development
ID AUTISM SPECTRUM DISORDERS; GRAPHEME-COLOR SYNESTHESIA;
INDIVIDUAL-DIFFERENCES; FUNCTIONING AUTISM; SAVANT SYNDROME;
SYNAESTHESIA; CONNECTIVITY; BRAIN; DISCRIMINATION; PREVALENCE
AB There is increasing evidence from case reports that synesthesia is more common in individuals with autism spectrum conditions (ASC). Further, genes related to synesthesia have also been found to be linked to ASC and, similar to synaesthetes, individuals with ASC show altered brain connectivity and unusual brain activation during sensory processing. However, up to now a systematic investigation of whether synesthesia is more common in ASC patients is missing. The aim of the current pilot study was to test this hypothesis by investigating a group of patients diagnosed with Asperger Syndrome (AS) using questionnaires and standard consistency tests in order to classify them as grapheme-color synaesthetes. The results indicate that there are indeed many more grapheme-color synaesthetes among AS patients. This finding is discussed in relation to different theories regarding the development of synesthesia as well as altered sensory processing in autism.
C1 [Neufeld, Janina] Univ Reading, Sch Psychol & Clin Language Sci, Ctr Integrat Neurosci & Neurodynam, Reading, Berks, England.
[Roy, Mandy; Emrich, Hinderk M.; Prox-Vagedes, Vanessa; Dillo, Wolfgang; Zedler, Markus] Hannover Med Sch, Dept Clin Psychiat Social Psychiat & Psychotherap, D-30625 Hannover, Germany.
[Zapf, Antonia] Univ Gottingen, Dept Med Stat, D-37073 Gottingen, Germany.
[Sinke, Christopher] Univ Med Ctr Hamburg Eppendorf, Dept Neurol, Hamburg, Germany.
RP Zedler, M (reprint author), Hannover Med Sch, Dept Clin Psychiat Social Psychiat & Psychotherap, Carl Neuberg Str 1,OE 7110, D-30625 Hannover, Germany.
EM zedler.markus@mh-hannover.de
FU DFG [SFB 936/A4]
FX Christopher Sinke has been supported by the DFG (SFB 936/A4).
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NR 67
TC 3
Z9 3
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD DEC 9
PY 2013
VL 7
DI 10.3389/fnhum.2013.00847
PG 12
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA 268HS
UT WOS:000328161600001
PM 24367321
ER
PT J
AU Fabio, RA
Castelli, I
Marchetti, A
Antonietti, A
AF Fabio, Rosa Angela
Castelli, Ilaria
Marchetti, Antonella
Antonietti, Alessandro
TI Training communication abilities in Rett Syndrome through reading and
writing
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE Rett Syndrome; cognitive rehabilitation; communication; reading;
writing; modificability
ID HAND USE; GIRLS; CHILDREN; AUTISM; MECP2; DISORDER; FEMALES; SKILLS;
WOMEN; INTERVENTION
AB The goal of this clinical case study is to investigate the possibility of training communication abilities in people with Rett Syndrome (RS). Usually, girls with RS never exceed the sensorimotor stage of development, but the inter-individual variability typical of RS may lead us to doubt the irrevocability of that developmental limit, especially for those girls who are engaged in cognitive rehabilitation. The case study reported here concerns a 21-year-old girl with RS who was engaged in cognitive rehabilitation training based upon the principles of Feuerstein's modificability and mediated learning theory. The training aimed to teach her basic concepts and enhance reading-writing abilities. Statistical analyses showed that the girl reached adequate reading-writing abilities, proving the validity of the cognitive intervention which allowed her to communicate by composing words with her forefinger on an alphabetic table. Although these results need to be cautiously considered as they derive from a single case study, they have implications for future cognitive rehabilitation for deeply impaired clinical conditions as in the case of RS.
C1 [Fabio, Rosa Angela] Univ Messina, Dept Cognit Sci & Educ, Messina, Italy.
[Castelli, Ilaria; Marchetti, Antonella] Univ Cattolica Sacro Cuore, Dept Psychol, Res Unit Theory Mind, I-20123 Milan, Italy.
[Antonietti, Alessandro] Univ Cattolica Sacro Cuore, Dept Psychol, Serv Learning & Educ Psychol, I-20123 Milan, Italy.
RP Castelli, I (reprint author), Univ Cattolica Sacro Cuore, Dept Psychol, Res Unit Theory Mind, Largo A Gemelli 1, I-20123 Milan, Italy.
EM ilaria.castelli@unicatt.it
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NR 70
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 DEC 6
PY 2013
VL 4
AR 911
DI 10.3389/fpsyg.2013.00911
PG 9
WC Psychology, Multidisciplinary
SC Psychology
GA AA7DA
UT WOS:000331256100001
PM 24367345
ER
PT J
AU Puzzo, I
Cooper, NR
Cantarella, S
Fitzgerald, PB
Russo, R
AF Puzzo, Ignazio
Cooper, Nicholas R.
Cantarella, Simona
Fitzgerald, Paul B.
Russo, Riccardo
TI The effect of rTMS over the inferior parietal lobule on EEG sensorimotor
reactivity differs according to self-reported traits of autism in
typically developing individuals
SO BRAIN RESEARCH
LA English
DT Article
DE EEG/repetitive TMS; Human Minor Neuron System; Traits of Autism in the
normal population; Sensorimotor reactivity
ID TRANSCRANIAL MAGNETIC STIMULATION; MIRROR-NEURON SYSTEM; DORSOLATERAL
PREFRONTAL CORTEX; INTERVAL CORTICAL INHIBITION; MU-RHYTHM; MOVEMENT
OBSERVATION; MOTOR CORTEX; TMS-EEG; PERCEPTION; ACTIVATION
AB Previous research suggested that EEG markers of mirror neuron system activation may differ, in the normal population as a function of different levels of the autistic spectrum quotient; (AQ). The present study aimed at modulating the EEG sensorimotor reactivity induced by hand movement obserciation by means of repetitive transcranial magnetic stimulation (rTMS) applied to the inferior parietal lobule. We examined how the resulting rTMS modulation differed in relation to the self-reported autistic traits in the typically developing population. Results showed that during sham stimulation, all participants had significantly greater sensorimotor alpha reactivity (motor cortex C electrodes) when observing hand movements compared to static hands. This sensorimotor alpha reactivity difference was reduced during active rTMS stimulation. Results also revealed that in the average AQ group at sham there was a significant increase in low beta during hand movement than static hand observation (pre-motor areas-FC electrodes) and that (like alpha over the C electrodes) this difference is abolished when active rTMS is delivered. Participants with high AQ scores showed no significant difference in low beta sensorimotor reactivity between active and sham rTMS during static hand or hand movement observation. These findings suggest that unlike sham, active rTMS over the IPL modulates the oscillatory activity of the low beta frequency of a distal area, namely the anterior sector of the sensorimotor cortex, when participants observe videos of static hand. Importantly, this modulation differs according to the degree of self-reported traits of autism in a typically developing population. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Puzzo, Ignazio; Cantarella, Simona] Univ Reading, Ctr Integrat Neurosci & Neurodynam, Reading RG6 6AH, Berks, England.
[Puzzo, Ignazio; Cooper, Nicholas R.; Cantarella, Simona; Russo, Riccardo] Univ Essex, Ctr Brain Sci, Dept Psychol, Colchester CO4 3SQ, Essex, England.
[Fitzgerald, Paul B.] Monash Univ, Monash Alfred Psychiat Res Ctr, Alfred & Cent Clin Sch, Melbourne, Vic 3004, Australia.
RP Puzzo, I (reprint author), Univ Reading, Ctr Integrat Neurosci & Neurodynam, Whiteknights Campus Earley Gate, Reading RG6 6AH, Berks, England.
EM I.Puzzo@reading.ac.uk
RI Fitzgerald, Paul/A-1225-2008
OI Fitzgerald, Paul/0000-0003-4217-8096
FU University of Essex
FX This study was supported by a University of Essex studentship to Ignazio
Puzzo and a University of Essex Research Promotion Fund grant to
Nicholas Cooper.
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NR 50
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD DEC 6
PY 2013
VL 1541
BP 33
EP 41
DI 10.1016/j.brainres.2013.10.016
PG 9
WC Neurosciences
SC Neurosciences & Neurology
GA 266GZ
UT WOS:000328013400004
PM 24161404
ER
PT J
AU Zurcher, NR
Rogier, O
Boshyan, J
Hippolyte, L
Russo, B
Gillberg, N
Helles, A
Ruest, T
Lemonnier, E
Gillberg, C
Hadjikhani, N
AF Zuercher, Nicole R.
Rogier, Ophelie
Boshyan, Jasmine
Hippolyte, Loyse
Russo, Britt
Gillberg, Nanna
Helles, Adam
Ruest, Torsten
Lemonnier, Eric
Gillberg, Christopher
Hadjikhani, Nouchine
TI Perception of Social Cues of Danger in Autism Spectrum Disorders
SO PLOS ONE
LA English
DT Article
ID PERCEIVED GAZE DIRECTION; HIGH-FUNCTIONING ADULTS; FACIAL EXPRESSION;
ASPERGER-SYNDROME; EYE GAZE; NEURAL SYSTEMS; DIAGNOSTIC INTERVIEW;
AMYGDALA RESPONSES; BRAIN MECHANISMS; FEARFUL FACES
AB Intuitive grasping of the meaning of subtle social cues is particularly affected in autism spectrum disorders (ASD). Despite their relevance in social communication, the effect of averted gaze in fearful faces in conveying a signal of environmental threat has not been investigated using real face stimuli in adults with ASD. Here, using functional MRI, we show that briefly presented fearful faces with averted gaze, previously shown to be a strong communicative signal of environmental danger, produce different patterns of brain activation than fearful faces with direct gaze in a group of 26 normally intelligent adults with ASD compared with 26 matched controls. While implicit cue of threat produces brain activation in attention, emotion processing and mental state attribution networks in controls, this effect is absent in individuals with ASD. Instead, individuals with ASD show activation in the subcortical face-processing system in response to direct eye contact. An effect of differences in looking behavior was excluded in a separate eye tracking experiment. Our data suggest that individuals with ASD are more sensitive to direct eye contact than to social signals of danger conveyed by averted fearful gaze.
C1 [Zuercher, Nicole R.; Rogier, Ophelie; Hippolyte, Loyse; Russo, Britt; Ruest, Torsten; Hadjikhani, Nouchine] Ecole Polytech Fed Lausanne, Brain Mind Inst, CH-1015 Lausanne, Switzerland.
[Zuercher, Nicole R.; Boshyan, Jasmine; Hadjikhani, Nouchine] Harvard Univ, Sch Med, Massachusetts Gen Hosp, Athinoula A Martinos Ctr Biomed Imaging, Charlestown, MA USA.
[Gillberg, Nanna; Helles, Adam; Gillberg, Christopher; Hadjikhani, Nouchine] Univ Gothenburg, Gillberg Centrum, Gothenburg, Sweden.
[Lemonnier, Eric] Univ Brest, Neurosci Lab, Brest, France.
RP Hadjikhani, N (reprint author), Ecole Polytech Fed Lausanne, Brain Mind Inst, CH-1015 Lausanne, Switzerland.
EM nouchine@nmr.mgh.harvard.edu
RI Centre d'imagerie Biomedicale, CIBM/B-5740-2012
FU Swiss National Science Foundation [PP00P3-130191]; Velux Stiftung;
Centre d'Imagerie BioMedicale (CIBM) of the University of Lausanne
(UNIL); Swiss Federal Institute of Technology Lausanne (EPFL);
University of Geneva (UniGe); Centre Hospitalier Universitaire Vaudois
(CHUV); Hopitaux Universitaires de Geneve (HUG); Leenaards Foundation;
Jeantet Foundation
FX This work was supported by the Swiss National Science Foundation
PP00P3-130191 to NH and by the Velux Stiftung, by the Centre d'Imagerie
BioMedicale (CIBM) of the University of Lausanne (UNIL), the Swiss
Federal Institute of Technology Lausanne (EPFL), the University of
Geneva (UniGe), the Centre Hospitalier Universitaire Vaudois (CHUV), the
Hopitaux Universitaires de Geneve (HUG), and the Leenaards and the
Jeantet Foundations. 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 82
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 DEC 4
PY 2013
VL 8
IS 12
AR e81206
DI 10.1371/journal.pone.0081206
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 265KD
UT WOS:000327949300081
PM 24324679
ER
PT J
AU Fukui, H
Toyoshima, K
AF Fukui, Hajime
Toyoshima, Kumiko
TI Influence of music on steroid hormones and the relationship between
receptor polymorphisms and musical ability: a pilot study
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE music; cortisol; testosterone; 17-beta estradiol; androgen receptor;
polymorphism; AMMA
ID SECRETORY IMMUNOGLOBULIN-A; AUTISM SPECTRUM DISORDER; CAG REPEAT
POLYMORPHISM; X-LINKED GENES; ANDROGEN RECEPTOR; TESTOSTERONE LEVELS;
AGGRESSIVE-BEHAVIOR; HUMAN INTELLIGENCE; COGNITIVE-ABILITY; VASOPRESSIN
AB Studies have shown that music confers plasticity to the brain. In a preliminary pilot study, we examined the effect of music listening on steroid hormones and the relationship between steroid hormone receptor polymorphisms and musical ability. Twenty-one subjects (10 males and 11 females) were recruited and divided into musically talented and control groups. The subjects selected (1) music they preferred (chill-inducing music) and (2) music they did not like. Before and after the experiments, saliva was collected to measure the levels of steroid hormones such as testosterone, estradiol, and cortisol. DNA was also isolated from the saliva samples to determine the androgen receptor (AR) and arginine vasopressin receptor 1A genotypes. Advanced Measures of Music Audiation (AMMA) was used to determine the musical ability of the subjects. With both types of music, the cortisol levels decreased significantly in both sexes. The testosterone (T) levels declined in males when they listened to both types of music. In females, the T levels increased in those listening to chill-inducing music but declined when they listened to music they disliked. However, these differences were not significant. The 17-beta estradiol levels increased in males with both types of music, whereas the levels increased with chill-inducing music but declined with disliked music in females. The AMMA scores were higher for the short repeat length-type AR than for the long repeat length-type. Comparisons of AR polymorphisms and T levels before the experiments showed that the T levels were within the low range in the short repeat length-type group and there was a positive relationship with the repeat length, although it was not significant. This is the first study conducted in humans to analyze the relationships between the AR gene, T levels, and musical ability.
C1 [Fukui, Hajime; Toyoshima, Kumiko] Nara Univ Educ, Dept Educ, Nara, Japan.
RP Fukui, H (reprint author), Nara Univ Educ, Dept Educ, Nara, Japan.
EM fukuih@nara-edu.ac.jp
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NR 84
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 DEC 3
PY 2013
VL 4
DI 10.3389/fpsyg.2013.00910
PG 8
WC Psychology, Multidisciplinary
SC Psychology
GA AA7BL
UT WOS:000331252000001
PM 24348454
ER
PT J
AU Scheid, I
Maruani, A
Huguet, G
Leblond, CS
Nygren, G
Anckarsater, H
Beggiato, A
Rastam, M
Amsellem, F
Gillberg, IC
Elmaleh, M
Leboyer, M
Gillberg, C
Betancur, C
Coleman, M
Hama, H
Cook, EH
Bourgeron, T
Delorme, R
AF Scheid, Isabelle
Maruani, Anna
Huguet, Guillaume
Leblond, Claire S.
Nygren, Gudrun
Anckarsaeter, Henrik
Beggiato, Anita
Rastam, Maria
Amsellem, Frederique
Gillberg, I. Carina
Elmaleh, Monique
Leboyer, Marion
Gillberg, Christopher
Betancur, Catalina
Coleman, Mary
Hama, Hiroko
Cook, Edwin H.
Bourgeron, Thomas
Delorme, Richard
TI Heterozygous FA2H mutations in autism spectrum disorders
SO BMC MEDICAL GENETICS
LA English
DT Article
DE Autism; Brain; Gene; Myelin
ID FATTY-ACID 2-HYDROXYLASE; SPASTIC PARAPARESIS; NEURODEGENERATION; GENE;
FORM
AB Background: Widespread abnormalities in white matter development are frequently reported in cases of autism spectrum disorders (ASD) and could be involved in the disconnectivity suggested in these disorders. Homozygous mutations in the gene coding for fatty-acid 2-hydroxylase (FA2H), an enzyme involved in myelin synthesis, are associated with complex leukodystrophies, but little is known about the functional impact of heterozygous FA2H mutations. We hypothesized that rare deleterious heterozygous mutations of FA2H might constitute risk factors for ASD.
Methods: We searched deleterious mutations affecting FA2H, by genotyping 1256 independent patients with ASD genotyped using Genome Wide SNP arrays, and also by sequencing in independent set of 186 subjects with ASD and 353 controls. We then explored the impact of the identified mutations by measuring FA2H enzymatic activity and expression, in transfected COS7 cells.
Results: One heterozygous deletion within 16q22.3-q23.1 including FA2H was observed in two siblings who share symptoms of autism and severe cognitive impairment, axial T2-FLAIR weighted MRI posterior periventricular white matter lesions. Also, two rare non-synonymous mutations (R113W and R113Q) were reported. Although predictive models suggested that R113W should be a deleterious, we did not find that FA2H activity was affected by expression of the R113W mutation in cultured COS cells.
Conclusions: While our results do not support a major role for FA2H coding variants in ASD, a screening of other genes related to myelin synthesis would allow us to better understand the role of non-neuronal elements in ASD susceptibility.
C1 [Scheid, Isabelle; Maruani, Anna; Huguet, Guillaume; Leblond, Claire S.; Beggiato, Anita; Bourgeron, Thomas; Delorme, Richard] Inst Pasteur, Paris, France.
[Scheid, Isabelle; Maruani, Anna; Huguet, Guillaume; Leblond, Claire S.; Beggiato, Anita; Bourgeron, Thomas; Delorme, Richard] CNRS, URA2182, Paris, France.
[Scheid, Isabelle; Maruani, Anna; Beggiato, Anita; Amsellem, Frederique; Delorme, Richard] Hop Robert Debre, AP HP, F-75019 Paris, France.
[Nygren, Gudrun; Gillberg, I. Carina; Gillberg, Christopher] Gothenburg Univ, Gillberg Neuropsychiat Ctr, Gothenburg, Sweden.
[Anckarsaeter, Henrik; Rastam, Maria] Lund Univ, Dept Clin Sci, Lund, Sweden.
[Beggiato, Anita; Leboyer, Marion] French Natl Sci Fdn, Fdn FondaMental, Creteil, France.
[Amsellem, Frederique; Leboyer, Marion] Hop Henri Mondor, INSERM, U955, F-94010 Creteil, France.
[Elmaleh, Monique] Hop Robert Debre, AP HP, F-75019 Paris, France.
[Gillberg, Christopher] UCL, Inst Child Hlth, London, England.
[Betancur, Catalina] INSERM, U952, Paris, France.
[Betancur, Catalina] CNRS, UMR7224, Paris, France.
[Betancur, Catalina] Univ Paris 06, Paris, France.
[Coleman, Mary] Fdn Autism Res, Sarasota, FL 34235 USA.
[Hama, Hiroko] Med Univ S Carolina, Dept Biochem & Mol Biol, Charleston, SC 29425 USA.
[Cook, Edwin H.] Univ Illinois, Dept Psychiat, Inst Juvenile Res, Chicago, IL 60612 USA.
[Bourgeron, Thomas] Univ Paris 07, F-75013 Paris, France.
RP Delorme, R (reprint author), Inst Pasteur, Paris, France.
EM richard.delorme@rdb.aphp.fr
FU The Institut Pasteur; INSERM; CNRS; ANR; Fondation FondaMentale; PHRC;
Fondation Orange
FX We thank the platform of Ressources Biologiques, Groupe Hospitalier
Albert-Chenevier-Henri Mondor, APHP, Creteil and the Centre
d'Investigation Clinique of the Robert Debre Hospital for collecting and
processing the biological samples used in this study. The Institut
Pasteur, INSERM, CNRS, ANR, Fondation FondaMentale, PHRC and Fondation
Orange supported this work.
CR Alderson NL, 2004, J BIOL CHEM, V279, P48562, DOI 10.1074/jbc.M406649200
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NR 26
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 DEC 3
PY 2013
VL 14
AR 124
DI 10.1186/1471-2350-14-124
PG 9
WC Genetics & Heredity
SC Genetics & Heredity
GA 273AV
UT WOS:000328505900001
PM 24299421
ER
PT J
AU Paemka, L
Mahajan, VB
Skeie, JM
Sowers, LP
Ehaideb, SN
Gonzalez-Alegre, P
Sasaoka, T
Tao, H
Miyagi, A
Ueno, N
Takao, K
Miyakawa, T
Wu, S
Darbro, BW
Ferguson, PJ
Pieper, AA
Britt, JK
Wemmie, JA
Rudd, DS
Wassink, T
El-Shanti, H
Mefford, HC
Carvill, GL
Manak, JR
Bassuk, AG
AF Paemka, Lily
Mahajan, Vinit B.
Skeie, Jessica M.
Sowers, Levi P.
Ehaideb, Salleh N.
Gonzalez-Alegre, Pedro
Sasaoka, Toshikuni
Tao, Hirotaka
Miyagi, Asuka
Ueno, Naoto
Takao, Keizo
Miyakawa, Tsuyoshi
Wu, Shu
Darbro, Benjamin W.
Ferguson, Polly J.
Pieper, Andrew A.
Britt, Jeremiah K.
Wemmie, John A.
Rudd, Danielle S.
Wassink, Thomas
El-Shanti, Hatem
Mefford, Heather C.
Carvill, Gemma L.
Manak, J. Robert
Bassuk, Alexander G.
TI PRICKLE1 Interaction with SYNAPSIN I Reveals a Role in Autism Spectrum
Disorders
SO PLOS ONE
LA English
DT Article
ID PROGRESSIVE MYOCLONUS EPILEPSY; LIM DOMAIN PROTEIN; MOUSE PRICKLE1; PC12
CELLS; GENE; MUTATIONS; POLARITY; RECEPTOR; BEHAVIOR; MICE
AB The frequent comorbidity of Autism Spectrum Disorders (ASDs) with epilepsy suggests a shared underlying genetic susceptibility; several genes, when mutated, can contribute to both disorders. Recently, PRICKLE1 missense mutations were found to segregate with ASD. However, the mechanism by which mutations in this gene might contribute to ASD is unknown. To elucidate the role of PRICKLE1 in ASDs, we carried out studies in Prickle1(+/-) mice and Drosophila, yeast, and neuronal cell lines. We show that mice with Prickle1 mutations exhibit ASD-like behaviors. To find proteins that interact with PRICKLE1 in the central nervous system, we performed a yeast two-hybrid screen with a human brain cDNA library and isolated a peptide with homology to SYNAPSIN I (SYN1), a protein involved in synaptogenesis, synaptic vesicle formation, and regulation of neurotransmitter release. Endogenous Prickle1 and Syn1 co-localize in neurons and physically interact via the SYN1 region mutated in ASD and epilepsy. Finally, a mutation in PRICKLE1 disrupts its ability to increase the size of dense-core vesicles in PC12 cells. Taken together, these findings suggest PRICKLE1 mutations contribute to ASD by disrupting the interaction with SYN1 and regulation of synaptic vesicles.
C1 [Paemka, Lily; Mahajan, Vinit B.; Skeie, Jessica M.; Sowers, Levi P.; Ehaideb, Salleh N.; Gonzalez-Alegre, Pedro; Wu, Shu; Darbro, Benjamin W.; Ferguson, Polly J.; Pieper, Andrew A.; Britt, Jeremiah K.; Wemmie, John A.; Rudd, Danielle S.; Wassink, Thomas; El-Shanti, Hatem; Manak, J. Robert; Bassuk, Alexander G.] Univ Iowa, Iowa City, IA 52242 USA.
[Paemka, Lily; Wu, Shu; Ferguson, Polly J.; El-Shanti, Hatem; Manak, J. Robert; Bassuk, Alexander G.] Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA.
[Paemka, Lily; Ehaideb, Salleh N.; Rudd, Danielle S.; Manak, J. Robert; Bassuk, Alexander G.] Univ Iowa, Interdisciplinary Program Genet, Iowa City, IA USA.
[Mahajan, Vinit B.; Skeie, Jessica M.] Univ Iowa, Dept Ophthalmol & Visual Sci, Iowa City, IA USA.
[Sowers, Levi P.; Gonzalez-Alegre, Pedro; Pieper, Andrew A.; Bassuk, Alexander G.] Univ Iowa, Dept Neurol, Iowa City, IA 52242 USA.
[Mahajan, Vinit B.; Sowers, Levi P.; Gonzalez-Alegre, Pedro; Darbro, Benjamin W.; Ferguson, Polly J.; Pieper, Andrew A.; Britt, Jeremiah K.; Wassink, Thomas; El-Shanti, Hatem; Bassuk, Alexander G.] Univ Iowa, Roy J & Lucille A Carver Coll Med, Iowa City, IA USA.
[Ehaideb, Salleh N.; Manak, J. Robert] Univ Iowa, Dept Biol, Iowa City, IA 52242 USA.
[Gonzalez-Alegre, Pedro; Wemmie, John A.] Univ Iowa, Interdisciplinary Grad Program Neurosci, Iowa City, IA USA.
[Sasaoka, Toshikuni] Niigata Univ, Brain Res Inst, Ctr Bioresources, Niigata, Japan.
[Tao, Hirotaka] Univ Toronto, Hosp Sick Kids, Toronto, ON, Canada.
[Miyagi, Asuka; Ueno, Naoto] Natl Inst Basic Biol, Dept Dev Biol, Okazaki, Aichi 444, Japan.
[Takao, Keizo; Miyakawa, Tsuyoshi] Natl Inst Physiol Sci, Ctr Genet Anal Behav, Sect Behav Patterns, Okazaki, Aichi 444, Japan.
[Takao, Keizo; Miyakawa, Tsuyoshi] Japan Sci & Technol Agcy, Kawaguchi, Saitama, Japan.
[Miyakawa, Tsuyoshi] Fujita Hlth Univ, Inst Comprehens Med Sci, Div Syst Med Sci, Toyoake, Aichi, Japan.
[Darbro, Benjamin W.] Univ Iowa, Dept Pathol, Iowa City, IA 52242 USA.
[Manak, J. Robert; Bassuk, Alexander G.] Univ Iowa, Interdisciplinary Grad Program Mol & Cellular Bio, Iowa City, IA USA.
[Pieper, Andrew A.; Britt, Jeremiah K.; Wemmie, John A.; Rudd, Danielle S.; Wassink, Thomas] Univ Iowa, Dept Psychiat, Iowa City, IA 52242 USA.
[El-Shanti, Hatem] Shafallah Med Genet Ctr, Doha, Qatar.
[Mefford, Heather C.; Carvill, Gemma L.] Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA.
RP Bassuk, AG (reprint author), Univ Iowa, Iowa City, IA 52242 USA.
EM alexander-bassuk@uiowa.edu
RI Takao, Keizo/B-9527-2008
OI Takao, Keizo/0000-0002-4734-3583
FU NIH [R01 NS064159-01A1, 1R21MH100086-01, K08EY020530]; Ministry of
Education, Culture, Sports, Science and Technology of Japan; Research to
Prevent Blindness
FX This work was mainly supported by NIH 1R01 NS064159-01A1 and NIH
1R21MH100086-01 (to AGB). Part of the work was supported by Grant-in-Aid
for Exploratory Research and Integrative Brain Research (IBR-shien), and
a Grant-in-Aid for Scientific Research on Innovative Areas
(Comprehensive Brain Science Network) from the Ministry of Education,
Culture, Sports, Science and Technology of Japan (to KT and TM), and NIH
Grant K08EY020530 and Research to Prevent Blindness (VBM). 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 59
TC 3
Z9 3
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD DEC 3
PY 2013
VL 8
IS 12
AR e80737
DI 10.1371/journal.pone.0080737
PG 15
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 265JR
UT WOS:000327947800020
PM 24312498
ER
PT J
AU Russell, G
Rodgers, LR
Ford, T
AF Russell, Ginny
Rodgers, Lauren R.
Ford, Tamsin
TI The Strengths and Difficulties Questionnaire as a Predictor of
Parent-Reported Diagnosis of Autism Spectrum Disorder and Attention
Deficit Hyperactivity Disorder
SO PLOS ONE
LA English
DT Article
ID ADOLESCENT MENTAL-HEALTH; DEFICIT/HYPERACTIVITY DISORDER;
PSYCHIATRIC-DISORDERS; CHILDREN; SAMPLE; ADHD; SDQ; PREVALENCE; AGE;
PSYCHOPATHOLOGY
AB The Strengths and Difficulties Questionnaire (SDQ) is widely used as an international standardised instrument measuring child behaviour. The primary aim of our study was to examine whether behavioral symptoms measured by SDQ were elevated among children with autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) relative to the rest of the population, and to examine the predictive value of the SDQ for outcome of parent-reported clinical diagnosis of ASD/ADHD. A secondary aim was to examine the extent of overlap in symptoms between children diagnosed with these two disorders, as measured by the SDQ subscales. A cross-sectional secondary analysis of data from the Millennium Birth Cohort (n = 19,519), was conducted. Data were weighted to be representative of the UK population as a whole. ADHD or ASD identified by a medical doctor or health professional were reported by parents in 2008 and this was the case definition of diagnosis; (ADHD n = 173, ASD n = 209, excluding twins and triplets). Study children's ages ranged from 6.3-8.2 years; (mean 7.2 years). Logistic regression was used to examine the association between the parent-reported clinical diagnosis of ASD/ADHD and teacher and parent-reported SDQ subscales. All SDQ subscales were strongly associated with both ASD and ADHD. There was substantial co-occurrence of behavioral difficulties between children diagnosed with ASD and those diagnosed with ADHD. After adjustment for other subscales, the final model for ADHD, contained hyperactivity/inattention and impact symptoms only and had a sensitivity of 91% and specificity of 90%; (AUC) = 0.94 (95% CI, 0.90-0.97). The final model for ASD was composed of all subscales except the 'peer problems' scales, indicating of the complexity of behavioural difficulties that may accompany ASD. A threshold of 0.03 produced model sensitivity and specificity of 79% and 93% respectively; AUC = 0.90 (95% CI, 0.86-0.95). The results support changes to DSM-5 removing exclusivity clauses.
C1 [Russell, Ginny; Ford, Tamsin] Univ Exeter, Sch Med, Inst Hlth Serv Res, Exeter EX4 4QJ, Devon, England.
[Rodgers, Lauren R.] Univ Exeter, Sch Med, NIHR CLAHRC South West Peninsula PenCLAHRC, Exeter EX4 4QJ, Devon, England.
RP Russell, G (reprint author), Univ Exeter, Sch Med, Inst Hlth Serv Res, Exeter EX4 4QJ, Devon, England.
EM g.russell@ex.ac.uk
FU ESRC as part of the Secondary Data Analysis Initiative [ES/K003356/1];
National Institute for Health Research (NIHR) Collaboration for
Leadership in Applied Health Research and Care (CLAHRC) for the South
West Peninsula
FX Funding was provided by the ESRC as part of the Secondary Data Analysis
Initiative, Grant Number ES/K003356/1. The authors also acknowledge
funding from the National Institute for Health Research (NIHR)
Collaboration for Leadership in Applied Health Research and Care
(CLAHRC) for the South West Peninsula. The views and opinions expressed
in this paper are those of the authors and not necessarily those of the
NHS, the NIHR or the Department of Health. 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 5
Z9 6
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 DEC 3
PY 2013
VL 8
IS 12
AR e80247
DI 10.1371/journal.pone.0080247
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 265JR
UT WOS:000327947800010
PM 24312466
ER
PT J
AU Kirsten, TB
Lippi, LL
Bevilacqua, E
Bernardi, MM
AF Kirsten, Thiago B.
Lippi, Luciana L.
Bevilacqua, Estela
Bernardi, Maria M.
TI LPS Exposure Increases Maternal Corticosterone Levels, Causes Placental
Injury and Increases IL-1B Levels in Adult Rat Offspring: Relevance to
Autism
SO PLOS ONE
LA English
DT Article
ID PRENATAL IMMUNE ACTIVATION; INFLAMMATORY RESPONSE; SPECTRUM DISORDERS;
EXPERIMENTAL-MODEL; SOCIAL-BEHAVIOR; AMNIOTIC-FLUID; BRAIN-INJURY;
LIPOPOLYSACCHARIDE; INFECTION; CYTOKINES
AB Maternal immune activation can induce neuropsychiatric disorders, such as autism and schizophrenia. Previous investigations by our group have shown that prenatal treatment of rats on gestation day 9.5 with lipopolysaccharide (LPS; 100 mu g/kg, intraperitoneally), which mimics infections by gram-negative bacteria, induced autism-like behavior in male rats, including impaired communication and socialization and induced repetitive/restricted behavior. However, the behavior of female rats was unchanged. Little is known about how LPS-induced changes in the pregnant dam subsequently affect the developing fetus and the fetal immune system. The present study evaluated the hypothalamic-pituitary-adrenal (HPA) axis activity, the placental tissue and the reproductive performance of pregnant Wistar rats exposed to LPS. In the adult offspring, we evaluated the HPA axis and pro-inflammatory cytokine levels with or without a LPS challenge. LPS exposure increased maternal serum corticosterone levels, injured placental tissue and led to higher post-implantation loss, resulting in fewer live fetuses. The HPA axis was not affected in adult offspring. However, prenatal LPS exposure increased IL-1 beta serum levels, revealing that prenatal LPS exposure modified the immune response to a LPS challenge in adulthood. Increased IL-1 beta levels have been reported in several autistic patients. Together with our previous studies, our model induced autistic-like behavioral and immune disturbances in childhood and adulthood, indicating that it is a robust rat model of autism.
C1 [Kirsten, Thiago B.; Lippi, Luciana L.] Univ Sao Paulo, Sch Vet Med, Dept Pathol, Sao Paulo, Brazil.
[Bevilacqua, Estela] Univ Sao Paulo, Inst Biomed Sci, Dept Cell & Dev Biol, Sao Paulo, Brazil.
[Bernardi, Maria M.] Univ Paulista, Grad Program Environm & Expt Pathol, Sao Paulo, Brazil.
[Bernardi, Maria M.] Univ Paulista, Grad Program Dent, Sao Paulo, Brazil.
RP Kirsten, TB (reprint author), Univ Sao Paulo, Sch Vet Med, Dept Pathol, Sao Paulo, Brazil.
EM thik@hotmail.com
FU Sao Paulo Research Foundation (FAPESP) [2008/53861-5, 2012/07007-8,
2009/51886-3]
FX This research was supported by the Sao Paulo Research Foundation (FAPESP
grant 2008/53861-5, 2012/07007-8 and thematic grant 2009/51886-3). The
funders had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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NR 45
TC 8
Z9 8
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 DEC 2
PY 2013
VL 8
IS 12
DI 10.1371/journal.pone.0082244
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 265IN
UT WOS:000327944500130
PM 24312647
ER
PT J
AU Jeans, LM
Santos, RM
Laxman, DJ
McBride, BA
Dyer, WJ
AF Jeans, Laurie M.
Santos, Rosa Milagros
Laxman, Daniel J.
McBride, Brent A.
Dyer, W. Justin
TI Early Predictors of ASD in Young Children Using a Nationally
Representative Data Set
SO JOURNAL OF EARLY INTERVENTION
LA English
DT Article
DE Autism Spectrum Disorders; ECLS-B; early predictors; multinomial
logistic regression
ID AUTISM SPECTRUM DISORDERS; PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC
STABILITY; EARLY IDENTIFICATION; EARLY INTERVENTION; PARENTAL REPORT;
TODDLERS; INFANTS; BEHAVIOR; RECOGNITION
AB Current clinical diagnosis of Autism Spectrum Disorders (ASD) occurs between 3 and 4 years of age, but increasing evidence indicates that intervention begun earlier may improve outcomes. Using secondary analysis of the Early Childhood Longitudinal Study-Birth Cohort data set, the current study identifies early predictors prior to the diagnosis of ASD at 4 years for approximately 100 children. Children with ASD were compared with children with other disabilities and children who were typically developing. Multinomial logistic regression analyses identified limited unique characteristics (e.g., self-regulation and sleep patterns) at the 9-month time point. A majority of the differences in communication and language, mental/cognitive function, motor function, social interaction, and self-regulation were found at the 2-year time point. Implications for research and practice are presented.
C1 [Jeans, Laurie M.; Santos, Rosa Milagros] Univ Illinois, Dept Special Educ, Champaign, IL USA.
[Laxman, Daniel J.; McBride, Brent A.] Univ Illinois, Dept Human & Community Dev, Champaign, IL USA.
[Dyer, W. Justin] Brigham Young Univ, Sch Family Life, Provo, UT 84602 USA.
RP Jeans, LM (reprint author), Univ Illinois, Dept Special Educ, Champaign, IL 61820 USA.
EM ljeans2@illinois.edu
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NR 62
TC 1
Z9 1
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 1053-8151
EI 2154-3992
J9 J EARLY INTERVENTION
JI J. Early Interv.
PD DEC
PY 2013
VL 35
IS 4
BP 303
EP 331
DI 10.1177/1053815114523319
PG 29
WC Education, Special; Psychology, Educational; Rehabilitation
SC Education & Educational Research; Psychology; Rehabilitation
GA AR5PW
UT WOS:000343637100001
ER
PT J
AU Noyes-Grosser, DM
Rosas, SR
Goldman, A
Elbaum, B
Romanczyk, R
Callahan, EH
AF Noyes-Grosser, Donna M.
Rosas, Scott R.
Goldman, Alyssa
Elbaum, Batya
Romanczyk, Ray
Callahan, Emily H.
TI Conceptualizing Child and Family Outcomes of Early Intervention Services
for Children With ASD and Their Families
SO JOURNAL OF EARLY INTERVENTION
LA English
DT Article
DE child outcomes; family outcomes; autism spectrum disorders; concept
mapping; early intervention services
ID AUTISM SPECTRUM DISORDER; YOUNG-CHILDREN; EARLY IDENTIFICATION; CENTERED
PRACTICES; PARENTS; DISABILITIES; PROFESSIONALS; PERSPECTIVE;
EXPERIENCES; DIAGNOSIS
AB State early intervention programs (EIPs) have been encouraged to develop and implement comprehensive outcomes measurement systems. As the number of children with autism spectrum disorders (ASD) and their families receiving services in state EIPs increases, disability-specific outcomes data are needed to better understand issues of access, costs, and benefits. The New York State Early Intervention Program (NYSEIP) used concept mapping with parent and professional stakeholders to define child and family outcomes expected from early intervention services for children with ASD and their families. Stakeholders generated more than 700 statements (synthesized to 105), then individually sorted (17 parents, 39 professionals) these statements into categories. Stakeholders rated each outcome on importance (20 parents, 48 professionals) and likelihood (18 parents, 46 professionals) that EIP services will yield a positive impact. The aggregated sort data were subjected to two separate sets of multivariate statistical analyses, producing an 11-cluster map of professionals' conceptualization and a 7-cluster map of parent/family members' conceptualization of the outcomes. Possible explanations for the parent/professional differences are discussed. The results will be used as part of ongoing efforts to develop a comprehensive evaluation system for state Part C EIPs that is grounded in stakeholders' perspectives on expected outcomes for children and families.
C1 [Noyes-Grosser, Donna M.] New York State Dept Hlth, Bur Early Intervent, Div Family Hlth, Albany, NY 12237 USA.
[Rosas, Scott R.; Goldman, Alyssa] Concept Syst Inc, Albany, OR USA.
[Elbaum, Batya] Univ Miami, Dept Teaching & Learning, Coral Gables, FL 33124 USA.
[Romanczyk, Ray; Callahan, Emily H.] SUNY Binghamton, Inst Child Dev, Binghamton, NY USA.
RP Noyes-Grosser, DM (reprint author), New York State Dept Hlth, Bur Early Intervent, Div Family Hlth, Room 287 Corning Tower Bldg,Empire State Plaza, Albany, NY 12237 USA.
EM Donna.Noyes@health.ny.gov
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NR 62
TC 0
Z9 0
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 1053-8151
EI 2154-3992
J9 J EARLY INTERVENTION
JI J. Early Interv.
PD DEC
PY 2013
VL 35
IS 4
BP 332
EP 354
DI 10.1177/1053815114551415
PG 23
WC Education, Special; Psychology, Educational; Rehabilitation
SC Education & Educational Research; Psychology; Rehabilitation
GA AR5PW
UT WOS:000343637100002
ER
PT J
AU Siller, M
Morgan, L
Turner-Brown, L
Baggett, KM
Baranek, GT
Brian, J
Bryson, SE
Carter, AS
Crais, ER
Estes, A
Kasari, C
Landa, RJ
Lord, C
Messinger, DS
Mundy, P
Odom, SL
Reznick, JS
Roberts, W
Rogers, SJ
Schertz, HH
Smith, IM
Stone, WL
Watson, LR
Wetherby, AM
Yoder, PJ
Zwaigenbaum, L
AF Siller, Michael
Morgan, Lindee
Turner-Brown, Lauren
Baggett, Kathleen M.
Baranek, Grace T.
Brian, Jessica
Bryson, Susan E.
Carter, Alice S.
Crais, Elizabeth R.
Estes, Annette
Kasari, Connie
Landa, Rebecca J.
Lord, Catherine
Messinger, Daniel S.
Mundy, Peter
Odom, Samuel L.
Reznick, J. Steven
Roberts, Wendy
Rogers, Sally J.
Schertz, Hannah H.
Smith, Isabel M.
Stone, Wendy L.
Watson, Linda R.
Wetherby, Amy M.
Yoder, Paul J.
Zwaigenbaum, Lonnie
TI Designing Studies to Evaluate Parent-Mediated Interventions for Toddlers
With Autism Spectrum Disorder
SO JOURNAL OF EARLY INTERVENTION
LA English
DT Article
DE clinical trial; intervention; parent; mother; family; toddler;
communication; autism
ID PERVASIVE DEVELOPMENTAL DISORDERS; RANDOMIZED CONTROLLED-TRIAL; EARLY
IDENTIFICATION; YOUNG-CHILDREN; JOINT ATTENTION; INFANTS; DIAGNOSIS;
RISK; COMMUNICATION; CHALLENGES
AB Given recent advances in science, policy, and practice of early identification in autism spectrum disorder (ASD), questions about the effectiveness of early intervention have far-reaching service and policy implications. However, rigorous research evaluating the efficacy and effectiveness of intervention programs for toddlers with ASD faces a multitude of novel scientific challenges. The Autism Speaks Toddler Treatment Network (ASTTN) was formed in 2007 to provide an infrastructure for ongoing communication between the investigators of eight research projects evaluating parent-mediated interventions for toddlers with ASD. The present article describes and compares the research studies of the ASTTN; highlights specific challenges with regard to research design, participants, recruitment, eligibility criteria, enrollment, and intervention approach; and outlines practical considerations that may guide the next generation of parent-mediated intervention studies involving toddlers with ASD.
C1 [Siller, Michael] CUNY Hunter Coll, Dept Psychol, New York, NY 10021 USA.
[Morgan, Lindee; Wetherby, Amy M.] Florida State Univ, Coll Med, Autism Inst, Tallahassee, FL 32306 USA.
[Turner-Brown, Lauren] Univ N Carolina, Carolina Inst Dev Disabil, Chapel Hill, NC USA.
[Baggett, Kathleen M.] Univ Kansas, Juniper Gardens Childrens Project, Lawrence, KS 66045 USA.
[Baranek, Grace T.] Univ N Carolina, Sch Med, Dept Allied Hlth Sci, Chapel Hill, NC USA.
[Brian, Jessica; Roberts, Wendy] Univ Toronto, Dept Pediat, Toronto, ON, Canada.
[Bryson, Susan E.; Smith, Isabel M.] Dalhousie Univ, Dept Pediat, Halifax, NS, Canada.
[Bryson, Susan E.; Smith, Isabel M.] Dalhousie Univ, Dept Psychol & Neurosci, Halifax, NS, Canada.
[Carter, Alice S.] Univ Massachusetts, Dept Psychol, Boston, MA 02125 USA.
[Crais, Elizabeth R.; Watson, Linda R.] Univ N Carolina, Div Speech & Hearing Sci, Chapel Hill, NC USA.
[Estes, Annette] Univ Washington, Autism Ctr, Seattle, WA 98195 USA.
[Kasari, Connie] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90024 USA.
[Landa, Rebecca J.] Johns Hopkins Univ, Sch Med, Kennedy Krieger Inst, Baltimore, MD USA.
[Lord, Catherine] Univ Michigan, Ann Arbor, MI 48109 USA.
[Messinger, Daniel S.; Mundy, Peter] Univ Miami, Dept Psychol, Coral Gables, FL 33124 USA.
[Odom, Samuel L.] Univ N Carolina, Frank Porter Graham Child Dev Inst, Chapel Hill, NC USA.
[Reznick, J. Steven] Univ N Carolina, Dept Psychol, Chapel Hill, NC USA.
[Rogers, Sally J.] Univ Calif Davis, MIND Inst, Davis, CA 95616 USA.
[Schertz, Hannah H.] Indiana Univ, Dept Curriculum & Instruct, Bloomington, IN USA.
[Stone, Wendy L.] Dalhousie Univ, Kennedy Ctr, Halifax, NS, Canada.
[Stone, Wendy L.] Dalhousie Univ, Dept Pediat, Halifax, NS, Canada.
[Yoder, Paul J.] Vanderbilt Univ, Kennedy Ctr, Nashville, TN 37235 USA.
[Zwaigenbaum, Lonnie] Univ Alberta, Dept Pediat, Edmonton, AB, Canada.
RP Siller, M (reprint author), CUNY Hunter Coll, Dept Psychol, 695 Pk Ave, New York, NY 10021 USA.
EM msiller@hunter.cuny.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 51
TC 0
Z9 0
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 1053-8151
EI 2154-3992
J9 J EARLY INTERVENTION
JI J. Early Interv.
PD DEC
PY 2013
VL 35
IS 4
BP 355
EP 377
DI 10.1177/1053815114542507
PG 23
WC Education, Special; Psychology, Educational; Rehabilitation
SC Education & Educational Research; Psychology; Rehabilitation
GA AR5PW
UT WOS:000343637100003
ER
PT J
AU Ruble, LA
McGrew, JH
Toland, MD
AF Ruble, Lisa A.
McGrew, John H.
Toland, Michael D.
TI Mechanisms of Change in COMPASS Consultation for Students With Autism
SO JOURNAL OF EARLY INTERVENTION
LA English
DT Article
DE autism spectrum disorders; implementation science; COMPASS;
implementation fidelity; intervention fidelity
ID SPECTRUM DISORDERS; SPECIAL-EDUCATION; YOUNG-CHILDREN; COMMUNICATION;
INTERVENTIONS; PRESCHOOLERS; SERVICES; QUALITY
AB More than a decade has passed since the National Research Council described the common elements of effective educational programs for young children with autism. Since that time, few studies have attempted to understand the mechanisms of change and factors affecting the effectiveness of research supported interventions implemented in community settings. Using Dunst's (2013) framework of implementation science, we examined the relationships between the fidelity of an implementation practice (i.e., a parent-teacher consultation called the Collaborative Model for Promoting Competence and Success; COMPASS), the fidelity of the intervention practice (i.e., teachers' adherence to the intervention plans generated as a result of COMPASS), and child goal attainment outcomes using data from a randomized controlled trial. Results confirmed the predicted relationships between implementation fidelity, intervention practice fidelity, and child outcomes. Specifically, we replicated findings that two hypothesized mechanisms of change, individual education program (IEP) quality and teacher adherence, positively affected intervention practices directly and child outcomes indirectly.
C1 [Ruble, Lisa A.; Toland, Michael D.] Univ Kentucky, Dept Educ Sch & Counseling Psychol, Lexington, KY 40506 USA.
[McGrew, John H.] Indiana Univ Purdue Univ, Dept Psychol, Indianapolis, IN 46205 USA.
RP Ruble, LA (reprint author), Univ Kentucky, 237 Dickey Hall, Lexington, KY 40506 USA.
EM lisa.ruble@uky.edu
CR [Anonymous], 2004, BUILD LEG IDEA 2004
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NR 46
TC 0
Z9 0
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 1053-8151
EI 2154-3992
J9 J EARLY INTERVENTION
JI J. Early Interv.
PD DEC
PY 2013
VL 35
IS 4
BP 378
EP 396
DI 10.1177/1053815114546495
PG 19
WC Education, Special; Psychology, Educational; Rehabilitation
SC Education & Educational Research; Psychology; Rehabilitation
GA AR5PW
UT WOS:000343637100004
ER
PT J
AU Matijevic, V
Secic, A
Masic, V
Sunic, M
Kolak, Z
Znika, M
AF Matijevic, Valentina
Secic, Ana
Masic, Valentina
Sunic, Martina
Kolak, Zeljka
Znika, Mateja
TI VIRTUAL REALITY IN REHABILITATION AND THERAPY
SO ACTA CLINICA CROATICA
LA English
DT Review
DE Virtual reality exposure therapy; Rehabilitation; Developmental
disabilities; Hand; Motor skills
ID CEREBRAL-PALSY; CHILDREN; GAME; MOTOR
AB This paper describes virtual reality and some of its potential applications in rehabilitation and therapy. Some aspects of this technology are discussed with respect to different problem areas (sensorimotor impairments, autism, learning difficulties), as well as previous research which investigated changes within some motor and motivation parameters in relation to rehabilitation of children with motor impairments. Emphasis is on the positive effects of virtual reality as a method in which rehabilitation and therapy can be offered and evaluated within a functional, purposeful and motivating context.
C1 [Matijevic, Valentina; Secic, Ana] Sestre Milosrdnice Univ, Ctr Hosp, Clin Dept Rheumatol Phys Med & Rehabil, HR-10000 Zagreb, Croatia.
[Masic, Valentina] Wink Bek Training & Educ Ctr, Zagreb, Croatia.
[Sunic, Martina] Croatian Pens Insurance Inst, Zagreb, Croatia.
[Kolak, Zeljka] Vinkovci Gen Hosp, Dept Phys Med & Rehabil, Vinkovci;, Croatia.
[Znika, Mateja] Lavoslav Ruzicka Polytech, Pregrada, Croatia.
RP Matijevic, V (reprint author), Sestre Milosrdnice Univ, Ctr Hosp, Clin Dept Rheumatol Phys Med & Rehabil, Vinogradska C 29, HR-10000 Zagreb, Croatia.
EM valentina.matijevic@gmail.com
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WALLON H, 1965, PSYCHOL DEV CHILD
NR 24
TC 0
Z9 0
PU SESTRE MILOSRDNICE UNIV HOSPITAL
PI ZAGREB
PA VINOGRADSKA C 29, ZAGREB, HR-10000, CROATIA
SN 0353-9466
EI 1333-9451
J9 ACTA CLIN CROAT
JI Acta Clin. Croat.
PD DEC
PY 2013
VL 52
IS 4
BP 453
EP 457
PG 5
WC Medicine, General & Internal
SC General & Internal Medicine
GA AC5XI
UT WOS:000332593900006
PM 24696995
ER
PT J
AU Riaz, Z
Robinson, L
Patel, A
Ataliotis, P
AF Riaz, Zahra
Robinson, Laurence
Patel, Ashik
Ataliotis, Paris
TI The autism- and schizophrenia-associated gene, GNB1L, regulates
WNT-signalling
SO GENETICS RESEARCH
LA English
DT Meeting Abstract
CT 24th Mammalian Genetics and Development Workshop of the Genetics-Society
CY NOV 21, 2013
CL London, ENGLAND
SP Genet Soc
HO Univ Coll London, Inst Child Hlth
C1 [Riaz, Zahra; Robinson, Laurence; Patel, Ashik; Ataliotis, Paris] Univ London, Div Biomed Sci, London, England.
NR 0
TC 0
Z9 0
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0016-6723
EI 1469-5073
J9 GENET RES
JI Genet. Res.
PD DEC
PY 2013
VL 95
IS 6
BP 185
EP 185
PG 1
WC Genetics & Heredity
SC Genetics & Heredity
GA AJ9SX
UT WOS:000338054100025
ER
PT J
AU Francis, A
Msall, M
Obringer, E
Kelley, K
AF Francis, Amy
Msall, Michael
Obringer, Emily
Kelley, Kent
TI Children with Autism Spectrum Disorder and Epilepsy
SO PEDIATRIC ANNALS
LA English
DT Article
ID EPILEPTIFORM EEG ABNORMALITIES; YOUNG-ADULTS; SEIZURES; INDIVIDUALS;
ADOLESCENTS; CHILDHOOD; BRAIN; ILAE; MRI
AB Autism spectrum disorder (ASD) is a biologically based neurodevelopmental disability
characterized by qualitative and persistent deficits in social communication
and social interaction and by the presence of restricted, repetitive, and stereotyped
patterns of behavior. Symptoms must be present in early childhood and they must
limit and impair everyday functioning. There is an increased prevalence of epilepsy
and/or epileptiform electroencephalography (EEG) abnormalities in children with
ASD. It is estimated that approximately one-third of children and adolescents with
ASD experience seizures, but the relationship between epilepsy and autism is controversial.
This article reviews the types of seizures associated with ASD, the EEG
findings, and current treatment strategies. The article also describes syndromes associated
with the autism phenotype and epilepsy.
C1 [Francis, Amy; Msall, Michael; Obringer, Emily] Univ Chicago, Dept Pediat, Sect Dev & Behav Pediat, Chicago, IL 60637 USA.
[Kelley, Kent] NorthShore Med Grp, Dept Pediat, Evanston, IL USA.
RP Francis, A (reprint author), Univ Chicago, Dept Pediat, Sect Dev & Behav Pediat, 950 E 6th St SSC Suite 207, Chicago, IL 60637 USA.
EM afrancis@peds.bsd.uchicago.edu
CR *AM PSYCH ASSOC, 2013, DIAG STAT MAN MENT
Asconape JJ, 2010, NEUROL CLIN, V28, P843, DOI 10.1016/j.ncl.2010.03.026
*AUTISM DEV DIS MO, 2012, MMWR SURVEILL SUMM, V61, P1
Berg AT, 2010, EPILEPSIA, V51, P676, DOI 10.1111/j.1528-1167.2010.02522.x
Blumberg S.J., 2013, NATL HLTH STAT REPOR, V65, P1
Chez MG, 2006, EPILEPSY BEHAV, V8, P267, DOI 10.1016/j.yebeh.2005.11.001
Courchesne E, 2001, NEUROLOGY, V57, P245
Danielsson S, 2005, EPILEPSIA, V46, P918, DOI 10.1111/j.1528-1167.2005.57504.x
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VOLKMAR FR, 1990, J AM ACAD CHILD PSY, V29, P127, DOI 10.1097/00004583-199001000-00020
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Zupec-Kania B, 2008, EPILEPSIA, V49, P23, DOI 10.1111/j.1528-1167.2008.01827.x
NR 30
TC 0
Z9 0
PU SLACK INC
PI THOROFARE
PA 6900 GROVE RD, THOROFARE, NJ 08086 USA
SN 0090-4481
EI 1938-2359
J9 PEDIATR ANN
JI Pediatr. Annu.
PD DEC
PY 2013
VL 42
IS 12
BP E264
EP E269
DI 10.3928/00904481-20131122-10
PG 6
WC Pediatrics
SC Pediatrics
GA AB1ND
UT WOS:000331558100016
ER
PT J
AU Lyalina, S
Percha, B
LePendu, P
Iyer, SV
Altman, RB
Shah, NH
AF Lyalina, Svetlana
Percha, Bethany
LePendu, Paea
Iyer, Srinivasan V.
Altman, Russ B.
Shah, Nigam H.
TI Identifying phenotypic signatures of neuropsychiatric disorders from
electronic medical records
SO JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
LA English
DT Article
ID BIPOLAR DISORDER; CLINICAL ASSOCIATIONS; NICOTINE DEPENDENCE;
MENTAL-ILLNESS; SCHIZOPHRENIA; AUTISM; DSM-5; EXPRESSION; NETWORKS;
PROGRAM
AB Objective Mental illness is the leading cause of disability in the USA, but boundaries between different mental illnesses are notoriously difficult to define. Electronic medical records (EMRs) have recently emerged as a powerful new source of information for defining the phenotypic signatures of specific diseases. We investigated how EMR-based text mining and statistical analysis could elucidate the phenotypic boundaries of three important neuropsychiatric illnesses-autism, bipolar disorder, and schizophrenia.
Methods We analyzed the medical records of over 7000 patients at two facilities using an automated text-processing pipeline to annotate the clinical notes with Unified Medical Language System codes and then searching for enriched codes, and associations among codes, that were representative of the three disorders. We used dimensionality-reduction techniques on individual patient records to understand individual-level phenotypic variation within each disorder, as well as the degree of overlap among disorders.
Results We demonstrate that automated EMR mining can be used to extract relevant drugs and phenotypes associated with neuropsychiatric disorders and characteristic patterns of associations among them. Patient-level analyses suggest a clear separation between autism and the other disorders, while revealing significant overlap between schizophrenia and bipolar disorder. They also enable localization of individual patients within the phenotypic 'landscape' of each disorder.
Conclusions Because EMRs reflect the realities of patient care rather than idealized conceptualizations of disease states, we argue that automated EMR mining can help define the boundaries between different mental illnesses, facilitate cohort building for clinical and genomic studies, and reveal how clear expert-defined disease boundaries are in practice.
C1 [Lyalina, Svetlana; Altman, Russ B.] Stanford Univ, Dept Bioengn, Stanford, CA 94305 USA.
[Lyalina, Svetlana] Stanford Univ, Dept Comp Sci, Stanford, CA 94305 USA.
[Percha, Bethany] Stanford Univ, Biomed Informat Training Program, Stanford, CA 94305 USA.
[Altman, Russ B.] Stanford Univ, Dept Genet, Stanford, CA 94305 USA.
[LePendu, Paea; Iyer, Srinivasan V.; Altman, Russ B.; Shah, Nigam H.] Stanford Univ, Dept Med, Ctr Biomed Informat Res, Stanford, CA 94305 USA.
RP Shah, NH (reprint author), Stanford Univ, Dept Med, Ctr Biomed Informat Res, 1265 Welch Rd,X-229, Stanford, CA 94305 USA.
EM nigam@stanford.edu
FU NIH [U54-HG004028, P50 MH094267]; Oracle Health Sciences Institute
FX NHS, PJL and SVI acknowledge support from NIH grant U54-HG004028 for the
National Center for Biomedical Ontology. SL, BP and RBA acknowledge
support from NIH grant P50 MH094267 for the Conte Center for
computational systems genomics of neuropsychiatric phenotypes. BP also
acknowledges support from a research grant by the Oracle Health Sciences
Institute.
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NR 49
TC 7
Z9 7
PU BMJ PUBLISHING GROUP
PI LONDON
PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
SN 1067-5027
EI 1527-974X
J9 J AM MED INFORM ASSN
JI J. Am. Med. Inf. Assoc.
PD DEC
PY 2013
VL 20
IS E2
BP E297
EP E305
DI 10.1136/amiajnl-2013-001933
PG 9
WC Computer Science, Information Systems; Computer Science,
Interdisciplinary Applications; Health Care Sciences & Services;
Information Science & Library Science; Medical Informatics
SC Computer Science; Health Care Sciences & Services; Information Science &
Library Science; Medical Informatics
GA AI0EA
UT WOS:000336517800016
PM 23956017
ER
PT J
AU [Anonymous]
AF [Anonymous]
TI Brief Intervention Reduced Parents' Stress After Child Autism Diagnosis
SO PEDIATRIC ANNALS
LA English
DT Editorial Material
CR Feinberg E, 2014, JAMA PEDIATR, V168, P40, DOI 10.1001/jamapediatrics.2013.3445
NR 1
TC 0
Z9 0
PU SLACK INC
PI THOROFARE
PA 6900 GROVE RD, THOROFARE, NJ 08086 USA
SN 0090-4481
EI 1938-2359
J9 PEDIATR ANN
JI Pediatr. Annu.
PD DEC
PY 2013
VL 42
IS 12
BP 478
EP 478
PG 1
WC Pediatrics
SC Pediatrics
GA AB1ND
UT WOS:000331558100003
ER
PT J
AU Brock, ME
Carter, EW
AF Brock, Matthew E.
Carter, Erik W.
TI A Systematic Review of Paraprofessional-Delivered Educational Practices
to Improve Outcomes for Students with Intellectual and Developmental
Disabilities
SO RESEARCH AND PRACTICE FOR PERSONS WITH SEVERE DISABILITIES
LA English
DT Review
DE paraprofessionals; developmental disabilities; professional development;
literature review; intellectual disability; autism spectrum disorder
ID AUTISM SPECTRUM DISORDERS; SINGLE-SUBJECT RESEARCH; HIGH-SCHOOL
CLASSROOMS; TEACHING PARAPROFESSIONALS; ALTERNATIVE COMMUNICATION;
GENERAL-EDUCATION; PEER INTERACTIONS; IMPLEMENT; INTERVENTIONS; SETTINGS
AB The involvement of paraprofessionals in the education of students with intellectual and developmental disabilities (IDD) has been both complex and controversial. Many scholars and advocates have raised concerns about the roles these staff members play in schools and the degree to which there is empirical support for their direct work with students. We conducted a systematic review of the literature to address two primary questions: To what extent have paraprofessional-implemented educational practices been shown to improve outcomes for elementary and secondary students with IDD, and what professional development strategies enable paraprofessionals to implement these strategies with fidelity? These studies indicate paraprofessionals, when given adequate training, are capable of effectively implementing a number of educational practices that result in improved academic and social outcomes, specifically, teaching communication skills, reducing problem behaviors, and increasing independence for students with IDD. Follow-up training and support, modeling, and performance feedback were prominent training components across most studies in this review and are validated in the broader research literature. However, limitations leave many questions' unanswered about how to best train and support paraprofessionals. We discuss recommendations for preparing paraprofessionals who work with students with IDD, as well as future directions for research.
C1 [Brock, Matthew E.; Carter, Erik W.] Vanderbilt Univ, Nashville, TN 37208 USA.
RP Brock, ME (reprint author), Vanderbilt Univ, 230 Appleton Pl,Peabody Box 228, Nashville, TN 37208 USA.
EM matthew.e.brock@vanderbilt.edu
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NR 57
TC 0
Z9 0
PU TASH
PI WASHINGTON
PA 1025 VERMONT AVE, NW 7TH FLR, WASHINGTON, DC 20005 USA
SN 0274-9483
J9 RES PRACT PERS SEV D
JI Res. Pract. Pers. Sev. Disabil.
PD WIN
PY 2013
VL 38
IS 4
BP 211
EP 221
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AG5UW
UT WOS:000335485200001
ER
PT J
AU Meral, BF
Cavkaytar, A
Turnbull, AP
Wang, M
AF Meral, Bekir Fatih
Cavkaytar, Atilla
Turnbull, Ann P.
Wang, Mian
TI Family Quality of Life of Turkish Families Who Have Children With
Intellectual Disabilities and Autism
SO RESEARCH AND PRACTICE FOR PERSONS WITH SEVERE DISABILITIES
LA English
DT Article
DE children with intellectual disabilities and autism; family quality of
life; family social support; emotional support
ID PERCEIVED SOCIAL SUPPORT; OUTCOMES; SCALE; PARENTS; STRESS;
SATISFACTION; PERSPECTIVES; PROGRAMS; HEALTH; INCOME
AB This study examined family quality of life (FQOL) of Turkish families who have children with intellectual disabilities (ID) and autism. To research the perceptions of FQOL and relevant predictive relationships, data were gathered from 3,009 families who have children with ID and autism. The data were collected by using a Sociodemographic Family Information Form, Beach Center Family Quality of Life Scale, and the Family Support Scale. The FQOL and subdomain perceptions of families who have children with ID and autism were slightly above a moderate level; the highest perceptions were in the Family Interaction domain, and the lowest perceptions were in the Physical/Material Well-Being domain. We computed significant positive correlations between overall FQOL perception and family social support domains as well as between overall FQOL perception and sociodemographic variables. In the prediction of overall FQOL perception, the variable that mostly explained total variance was emotional support. For the covariates of care support, household/income, information support, socioeconomic status, age of child, type of disability, and affiliation support, the ability to predict FQOL was weak. Conversely, age of mothers, employment status of mothers, and material support domain were not important predictors in FQOL.
C1 [Meral, Bekir Fatih] Sakarya Univ, Sakarya, Turkey.
[Meral, Bekir Fatih; Turnbull, Ann P.] Univ Kansas, Lawrence, KS 66045 USA.
[Cavkaytar, Atilla] Anadolu Univ, Eskisehir, Turkey.
[Wang, Mian] Univ Calif Santa Barbara, Santa Barbara, CA 93106 USA.
RP Meral, BF (reprint author), Univ Kansas, Beach Ctr Disabil, 1200 Sunnyside Ave,3134 Haworth, Lawrence, KS 66045 USA.
EM bfmeral@gmail.com
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NR 105
TC 2
Z9 2
PU TASH
PI WASHINGTON
PA 1025 VERMONT AVE, NW 7TH FLR, WASHINGTON, DC 20005 USA
SN 0274-9483
J9 RES PRACT PERS SEV D
JI Res. Pract. Pers. Sev. Disabil.
PD WIN
PY 2013
VL 38
IS 4
BP 233
EP 246
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AG5UW
UT WOS:000335485200003
ER
PT J
AU Marks, SU
Kurth, JA
AF Marks, Susan Unok
Kurth, Jennifer A.
TI The Wrong Question, Still: A Response to "Is Inclusivity an Indicator of
Quality of Care for Children With Autism in Special Education" by E.
Michael Foster and Erin Pearson
SO RESEARCH AND PRACTICE FOR PERSONS WITH SEVERE DISABILITIES
LA English
DT Editorial Material
DE inclusion; special education; autism; LRE
ID SPECIAL-EDUCATION; DISABILITIES; ADOLESCENTS; IMPACT
C1 [Marks, Susan Unok] No Arizona Univ, Flagstaff, AZ 86011 USA.
[Kurth, Jennifer A.] Univ Kansas, Lawrence, KS 66045 USA.
RP Marks, SU (reprint author), No Arizona Univ, Coll Educ, Box 5774, Flagstaff, AZ 86011 USA.
EM susan.marks@nau.edu
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NR 15
TC 0
Z9 0
PU TASH
PI WASHINGTON
PA 1025 VERMONT AVE, NW 7TH FLR, WASHINGTON, DC 20005 USA
SN 0274-9483
J9 RES PRACT PERS SEV D
JI Res. Pract. Pers. Sev. Disabil.
PD WIN
PY 2013
VL 38
IS 4
BP 274
EP 276
PG 3
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AG5UW
UT WOS:000335485200006
ER
PT J
AU Schwartz, I
Thomas, CJ
McBride, B
Sandall, S
AF Schwartz, Ilene
Thomas, Carnot J.
McBride, Bonnie
Sandall, Susan
TI A School-Based Preschool Program for Children with ASD: A
Quasi-Experimental Assessment of Child Change in Project DATA
SO SCHOOL MENTAL HEALTH
LA English
DT Article
DE Autism; Comprehensive treatment model; Early intervention
ID AUTISM SPECTRUM DISORDERS; BEHAVIORAL TREATMENT; CONTROLLED-TRIAL;
YOUNG-CHILDREN; INTERVENTION
AB Project DATA (Developmentally Appropriate Treatment for Autism) is a school-based comprehensive treatment model for preschool children with autism spectrum disorder (ASD). This study explored 5 years of results from children participating in the model. Data from up to 69 preschool children independently diagnosed with ASD were utilized in determining pre-/post-program performance on a variety of outcome measures representative of functioning across developmental domains, receptive language skills, social skills, problem behaviors, and autism characteristics. Descriptive statistics are utilized to describe the participants at program entry and exit. Results of the paired-samples t tests indicate statistically significant positive program change on 13 of the 16 outcomes measures, especially those that measure core deficits common to ASD. Overall results suggest that Project DATA is a promising practice for providing school-based services to young children with ASD.
C1 [Schwartz, Ilene; Sandall, Susan] Univ Washington, Seattle, WA 98195 USA.
[Thomas, Carnot J.] Vashon Isl Sch Dist, Vashon Isl, WA USA.
[McBride, Bonnie] Univ Oklahoma, Hlth Sci Ctr, Oklahoma City, OK USA.
RP Schwartz, I (reprint author), Univ Washington, Seattle, WA 98195 USA.
EM ilene@uw.edu
CR Bricker D., 2002, ASSESSMENT EVALUATIO
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Dunn L. M., 1997, PEABODY PICTURE VOCA, V3rd
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NR 22
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1866-2625
EI 1866-2633
J9 SCH MENT HEALTH
JI School Ment. Health
PD DEC
PY 2013
VL 5
IS 4
BP 221
EP 232
DI 10.1007/s12310-013-9103-7
PG 12
WC Psychology, Educational; Psychology, Developmental
SC Psychology
GA AB4CG
UT WOS:000331736100005
ER
PT J
AU Dincel, N
Unalp, A
Kutlu, A
Ozturk, A
Uran, N
Ulusoy, S
AF Dincel, Nida
Unalp, Aycan
Kutlu, Ayse
Ozturk, Aysel
Uran, Nedret
Ulusoy, Sadik
TI Serum nerve growth factor levels in autistic children in Turkish
population: A preliminary study
SO INDIAN JOURNAL OF MEDICAL RESEARCH
LA English
DT Article
DE Autism; child; epilepsy; nerve growth factor; neurodevelopment
ID SPECTRUM DISORDERS; NEUROTROPHINS
AB Background & objectives: It has been hypothesized that abnormal levels of serum nerve growth factor (NGF) may represent a serological marker for autistic children who may develop cognitive impairment, regression and finally epilepsy. The objective of this preliminary study was to measure serum NGF concentrations of autistic children and compare these levels with those of healthy children.
Methods: Consecutive children who were referred to the Paediatric Neurology and Child Psychiatry Policlinics of Dr. Behcet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Turkey between February and September 2008 were included in the study. Serum samples were analyzed for NGF levels using ChemiKine NGF Sandwich ELISA Kit. Comparisons between the study and the control groups were made using student's t test and Chi-square test.
Results: Forty-nine autistic children and an equal number of healthy children (control group) were included in the study. No significant difference was found between the study and the control groups in terms of children's age, while number of boys was significantly higher (P<0.05) in the study group. Average serum NGF concentrations were 46.94 +/- 51.40 and 32.94 +/- 12.48 pg/ml in the study and control group, respectively. Serum NGF concentrations were significantly higher (P<0.05) in the study group compared with the control group.
Interpretation & conclusions: Our preliminary findings show that enhanced serum NGF concentration may be used as a potential diagnostic tool in autism, however, further studies including a large number of patients are required to confirm the findings.
C1 [Unalp, Aycan; Kutlu, Ayse; Ozturk, Aysel; Uran, Nedret] Dr Behcet Uz Child Dis & Pediat Surg Training & R, Izmir, Turkey.
[Dincel, Nida] Ege Univ, Tip Fak, Izmir, Turkey.
[Ulusoy, Sadik] Uzman Tip Med Ctr, Izmir, Turkey.
RP Dincel, N (reprint author), Ege Univ, Tip Fak, Cocuk Hastanesi, Izmir, Turkey.
EM nida_dincel@yahoo.com
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NR 15
TC 1
Z9 1
PU INDIAN COUNCIL MEDICAL RES
PI NEW DELHI
PA PO BOX 4911 ANSARI NAGAR, NEW DELHI 110029, INDIA
SN 0971-5916
J9 INDIAN J MED RES
JI Indian J. Med. Res.
PD DEC
PY 2013
VL 138
BP 900
EP 903
PG 4
WC Immunology; Medicine, General & Internal; Medicine, Research &
Experimental
SC Immunology; General & Internal Medicine; Research & Experimental
Medicine
GA AA1TV
UT WOS:000330879500016
PM 24521633
ER
PT J
AU Sadakata, T
Shinoda, Y
Sato, A
Iguchi, H
Ishii, C
Matsuo, M
Yamaga, R
Furuichi, T
AF Sadakata, Tetsushi
Shinoda, Yo
Sato, Akira
Iguchi, Hirotoshi
Ishii, Chiaki
Matsuo, Makoto
Yamaga, Ryosuke
Furuichi, Teiichi
TI Mouse Models of Mutations and Variations in Autism Spectrum
Disorder-Associated Genes: Mice Expressing Caps2/Cadps2 Copy Number and
Alternative Splicing Variants
SO INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
LA English
DT Review
DE CAPS2; CADPS2; dense-core vesicle; BDNF; GABAergic interneurons; CNV;
ASD mouse model; social interaction; anxiety; maternal behavior
ID DE-NOVO MUTATIONS; DEPENDENT ACTIVATOR PROTEIN; CORE VESICLE
TRAFFICKING; BEHAVIORAL PHENOTYPES; NEUROTROPHIN RELEASE; STRUCTURAL
VARIATION; REPETITIVE BEHAVIOR; SOCIAL-BEHAVIOR; ANIMAL-MODELS; MUTANT
MICE
AB Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by disturbances in interpersonal relationships and behavior. Although the prevalence of autism is high, effective treatments have not yet been identified. Recently, genome-wide association studies have identified many mutations or variations associated with ASD risk on many chromosome loci and genes. Identification of the biological roles of these mutations or variations is necessary to identify the mechanisms underlying ASD pathogenesis and to develop clinical treatments. At present, mice harboring genetic modifications of ASD-associated gene candidates are the best animal models to analyze hereditary factors involved in autism. In this report, the biological significance of ASD-associated genes is discussed by examining the phenotypes of mouse models with ASD-associated mutations or variations in mouse homologs, with a focus on mice harboring genetic modifications of the Caps2/Cadps2 (Ca2+-dependent activator protein for secretion 2) gene.
C1 [Sadakata, Tetsushi] Gunma Univ, Adv Sci Res Leaders Dev Unit, Maebashi, Gunma 3718511, Japan.
[Sadakata, Tetsushi; Shinoda, Yo; Furuichi, Teiichi] JST CREST, Kawaguchi, Saitama 3320012, Japan.
[Shinoda, Yo; Sato, Akira; Iguchi, Hirotoshi; Ishii, Chiaki; Matsuo, Makoto; Yamaga, Ryosuke; Furuichi, Teiichi] Tokyo Univ Sci, Dept Appl Biol Sci, Noda, Chiba 2788510, Japan.
RP Furuichi, T (reprint author), JST CREST, Kawaguchi, Saitama 3320012, Japan.
EM sadakata-1024@umin.ac.jp; yshinoda@rs.tus.ac.jp; asato@rs.tus.ac.jp;
python357@hotmail.co.jp; atmo_sphere@hotmail.co.jp;
makoto03010301@gmail.com; ryohd@vm01.vaio.ne.jp; tfuruichi@rs.tus.ac.jp
FU Japanese Ministry of Education, Culture, Sports, Science and Technology
(MEXT); Japan Society for the Promotion of Science; Japan Science and
Technology Agency; Tokyo University of Science; Japan Foundation for
Neuroscience and Mental Health; Uehara Memorial Foundation; Nakajima
Foundation; Yamada Science Foundation; Mother and Child Health
Foundation; NOVARTIS Foundation; Inamori Foundation; Scientific Research
on Innovative Areas "Foundation of Synapse and Neurocircuit Pathology;
MEXT
FX This study was supported by Grants from the Japanese Ministry of
Education, Culture, Sports, Science and Technology (MEXT), the Japan
Society for the Promotion of Science, the Japan Science and Technology
Agency, The Tokyo University of Science, the Japan Foundation for
Neuroscience and Mental Health, the Uehara Memorial Foundation, the
Nakajima Foundation, the Yamada Science Foundation, the Mother and Child
Health Foundation, the NOVARTIS Foundation, the Inamori Foundation,
Scientific Research on Innovative Areas "Foundation of Synapse and
Neurocircuit Pathology, and the Program to Disseminate Tenure Tracking
System" of MEXT granted to Gunma University.
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NR 70
TC 0
Z9 1
PU MDPI AG
PI BASEL
PA POSTFACH, CH-4005 BASEL, SWITZERLAND
SN 1660-4601
J9 INT J ENV RES PUB HE
JI Int. J. Environ. Res. Public Health
PD DEC
PY 2013
VL 10
IS 12
BP 6335
EP 6353
DI 10.3390/ijerph10126335
PG 19
WC Environmental Sciences
SC Environmental Sciences & Ecology
GA 296XV
UT WOS:000330219600008
PM 24287856
ER
PT J
AU McGinnis, WR
Audhya, T
Edelson, SM
AF McGinnis, Woody R.
Audhya, Tapan
Edelson, Stephen M.
TI Proposed Toxic and Hypoxic Impairment of a Brainstem Locus in Autism
SO INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
LA English
DT Article
DE autism; nucleus tractus solitarius; blood-brain barrier; autonomic;
baroreflex; toxins; hypoxia; perfusion; adrenergic; A(2) neurons
ID NUCLEUS-TRACTUS-SOLITARIUS; DORSAL VAGAL COMPLEX; SPONTANEOUSLY
HYPERTENSIVE-RATS; VAGUS NERVE-STIMULATION; NECROSIS-FACTOR-ALPHA;
CEREBRAL-BLOOD-FLOW; CHOLINERGIC ANTIINFLAMMATORY PATHWAY;
GLUTAMATE-INDUCED EXCITOTOXICITY; RESPIRATORY SINUS ARRHYTHMIA; INFERIOR
CEREBELLAR ARTERY
AB Electrophysiological findings implicate site-specific impairment of the nucleus tractus solitarius (NTS) in autism. This invites hypothetical consideration of a large role for this small brainstem structure as the basis for seemingly disjointed behavioral and somatic features of autism. The NTS is the brain's point of entry for visceral afference, its relay for vagal reflexes, and its integration center for autonomic control of circulatory, immunological, gastrointestinal, and laryngeal function. The NTS facilitates normal cerebrovascular perfusion, and is the seminal point for an ascending noradrenergic system that modulates many complex behaviors. Microvascular configuration predisposes the NTS to focal hypoxia. A subregionthe pNTSpermits exposure to all blood-borne neurotoxins, including those that do not readily transit the blood-brain barrier. Impairment of acetylcholinesterase (mercury and cadmium cations, nitrates/nitrites, organophosphates, monosodium glutamate), competition for hemoglobin (carbon monoxide, nitrates/nitrites), and higher blood viscosity (net systemic oxidative stress) are suggested to potentiate microcirculatory insufficiency of the NTS, and thus autism.
C1 [McGinnis, Woody R.; Edelson, Stephen M.] Autism Res Inst, San Diego, CA 92116 USA.
[Audhya, Tapan] NYU, Div Endocrinol, Dept Med, Sch Med, New York, NY 10016 USA.
RP McGinnis, WR (reprint author), Autism Res Inst, 4182 Adams Ave, San Diego, CA 92116 USA.
EM woody.mcginnis@gmail.com; audhyatk@optonline.net; sait97302@yahoo.com
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NR 315
TC 0
Z9 0
PU MDPI AG
PI BASEL
PA POSTFACH, CH-4005 BASEL, SWITZERLAND
SN 1660-4601
J9 INT J ENV RES PUB HE
JI Int. J. Environ. Res. Public Health
PD DEC
PY 2013
VL 10
IS 12
BP 6955
EP 7000
DI 10.3390/ijerph10126955
PG 46
WC Environmental Sciences
SC Environmental Sciences & Ecology
GA 296XV
UT WOS:000330219600042
PM 24336025
ER
PT J
AU MacDonald, K
MacDonald, TM
Brune, M
Lamb, K
Wilson, MP
Golshan, S
Feifel, D
AF MacDonald, Kai
MacDonald, Tina Marie
Bruene, Martin
Lamb, Kristi
Wilson, Michael P.
Golshan, Shahrokh
Feifel, David
TI Oxytocin and psychotherapy: A pilot study of its physiological,
behavioral and subjective effects in males with depression
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Article
DE Intranasal; Adult; Double-Blind Method; Humans; Attachment; Male; Mood
disorders; Depression; Oxytocin/administration and dosage; Psychotherapy
ID RANDOMIZED CONTROLLED-TRIAL; SCHIZOPHRENIA SPECTRUM DISORDERS; SEROTONIN
REUPTAKE INHIBITORS; SOCIAL ANXIETY DISORDER; HIGH-FUNCTIONING AUTISM;
INTRANASAL OXYTOCIN; ADULT ATTACHMENT; NONVERBAL BEHAVIOR; CORTISOL
RESPONSES; SALIVARY CORTISOL
AB Individual psychotherapy is an important treatment for a number of psychiatric conditions and involves a unique form of human attachment. This raises the question of whether oxytocin (OT), the paradigmatic "attachment hormone", may have benefits in this context. In this randomized, double-blind, crossover trial, we gave male psychiatric outpatients with major depressive disorder 40 IU intranasal OT or placebo before a videotaped session with a therapist and measured a number of subjective, physiological, and behavioral parameters. We report three main findings. Surprisingly - in contrast to prior reports of OT's anxiolytic properties - we found OT caused an increase in anxiety over the course of the therapy session. Secondly, though it had no main effect on cortisol, eye contact, or overall behavior, we did find that OT caused a decrease in nonverbal behaviors that cut off social contact, after controlling for level of depressive symptoms. Lastly, we replicated prior findings that OT improves social cognition (performance on the reading the mind in the eyes test (RMET)), albeit in a depressed patient group. These results inform future studies of oxytocin and psychotherapy and suggest that in certain clinical populations and contexts, OT has heterogeneous subjective effects which may include acute anxiogenesis. Moreover, the similarity of some of these acute effects to those of single-dose serotonergic antidepressants raises interesting questions about the potential antidepressant benefits of chronic OT administration. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [MacDonald, Kai; Lamb, Kristi; Golshan, Shahrokh; Feifel, David] Univ Calif San Diego, Med Ctr, Dept Psychiat, La Jolla, CA 92093 USA.
[Wilson, Michael P.] UC San Diego Hlth Syst, Dept Emergency Med, San Diego, CA USA.
[Bruene, Martin] Ruhr Univ Bochum, Dept Psychiat Psychotherapy & Prevent Med, Bochum, Germany.
RP MacDonald, K (reprint author), 3368 2nd Ave,Suite B, San Diego, CA 92103 USA.
EM kai@kaimacdonald.com
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NR 145
TC 20
Z9 20
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 DEC
PY 2013
VL 38
IS 12
BP 2831
EP 2843
DI 10.1016/j.psyneuen.2013.05.014
PG 13
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AA0YX
UT WOS:000330824400001
PM 23810433
ER
PT J
AU Colonnello, V
Chen, FS
Panksepp, J
Heinrichs, M
AF Colonnello, Valentina
Chen, Frances S.
Panksepp, Jaak
Heinrichs, Markus
TI Oxytocin sharpens self-other perceptual boundary
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Article
DE Oxytocin; Self; Social interaction; Awareness; Social cognition
ID INTRANASAL OXYTOCIN; FACE RECOGNITION; AMYGDALA REACTIVITY; FUNCTIONING
AUTISM; SOCIAL-PERCEPTION; ADULT ATTACHMENT; NEURAL CIRCUITRY; EMOTIONAL
FACES; HUMAN-MEMORY; HUMANS
AB Recent cross-species research has demonstrated that the neurohormone oxytocin plays a key role in social interaction and cognitive processing of others' emotions. Whereas oxytocin has been shown to influence social approach, trust, and bond formation, a potential role of the oxytocinergic system in blurring or enhancing the ability to differentiate between one's self and other's related stimuli is unknown. Thus, we investigated whether oxytocin affects the ability to differentiate between self- and other-related stimuli using a facial morphing procedure.
In a placebo-controlled, double-blind study, 44 healthy men received either 24 IU oxytocin or placebo intranasally. After 45 min, we measured participants' ability to differentiate their own identity while viewing a photo of themselves morphing into the photo of an unfamiliar face.
Oxytocin administration shortened the latency of self-other differentiation. Additionally, when asked to rate the pleasantness of the unmorphed photos, the oxytocin-treated participants rated their own and the unfamiliar face as comparably pleasant.
Oxytocin increases the ability to recognize differences between self and others and increases positive evaluation of others. Our findings are consistent with the hypothesis that impaired oxytocin signaling may be involved in the development and manifestation of human psychopathologies in which self-recognition is altered. (C) 2013 Published by Elsevier Ltd.
C1 [Colonnello, Valentina; Chen, Frances S.; Heinrichs, Markus] Univ Freiburg, Dept Psychol, Lab Biol & Personal Psychol, D-79104 Freiburg, Germany.
[Panksepp, Jaak] Washington State Univ, Coll Vet Med, Dept Integrat Physiol & Neurosci, Ctr Study Anim Well Being, Pullman, WA 99164 USA.
[Heinrichs, Markus] Univ Freiburg, Univ Med Ctr, Freiburg Brain Imaging Ctr, D-79106 Freiburg, Germany.
RP Heinrichs, M (reprint author), Univ Freiburg, Dept Psychol, Lab Biol & Personal Psychol, D-79104 Freiburg, Germany.
EM valentina.colonnello@psychologie.uni-freiburg.de;
heinrichs@psychologie.uni-freiburg.de
FU Deutsche Forschungsgemeinschaft [DFG He5310/1-1]; Neuropsychoanalysis
Foundation; Alexander von Humboldt Foundation
FX This study is supported by the Deutsche Forschungsgemeinschaft (DFG
He5310/1-1; to M.H. and F.S.C.). V.C. is supported by a research grant
from the Neuropsychoanalysis Foundation; V.C. and F.S.C. gratefully
acknowledge support from research fellowships of the Alexander von
Humboldt Foundation.
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NR 77
TC 8
Z9 8
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 DEC
PY 2013
VL 38
IS 12
BP 2996
EP 3002
DI 10.1016/j.psyneuen.2013.08.010
PG 7
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AA0YX
UT WOS:000330824400018
PM 24064220
ER
PT J
AU Basu, SS
Deutsch, EC
Schmaier, AA
Lynch, DR
Blair, IA
AF Basu, Sankha S.
Deutsch, Eric C.
Schmaier, Alec A.
Lynch, David R.
Blair, Ian A.
TI Human platelets as a platform to monitor metabolic biomarkers using
stable isotopes and LC-MS
SO BIOANALYSIS
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; TANDEM MASS-SPECTROMETRY; MITOCHONDRIAL
DYSFUNCTION; FRIEDREICH ATAXIA; MOLECULAR-MECHANISMS;
GLUTAMINE-METABOLISM; CELLULAR STRESS; ACYL-COENZYME; DISEASE; TISSUES
AB Background: Intracellular metabolites such as CoA thioesters are modulated in a number of clinical settings. Their accurate measurement from surrogate tissues such as platelets may provide additional information to current serum and urinary biomarkers. Methods: Freshly isolated platelets from healthy volunteers were treated with rotenone, propionate or isotopically labeled metabolic tracers. Using a recently developed LC-MS-based methodology, absolute changes in short-chain acyl-CoA thioesters were monitored, as well as relative metabolic labeling using isotopomer distribution ana-lysis. Results: Consistent with in vitro experiments, isolated platelets treated with rotenone showed decreased intracellular succinyl-CoA and increased beta-hydroxybutyryl-CoA, while propionate treatment resulted in increased propionyl-CoA. In addition, isotopomers of the CoAs were readily detected in platelets treated with the [C-13]- or [(CN)-C-13-N-15]-labeled metabolic precursors. Conclusion: Here, we show that human platelets can provide a powerful ex vivo challenge platform with potential clinical diagnostic and biomarker discovery applications.
C1 [Basu, Sankha S.; Deutsch, Eric C.; Schmaier, Alec A.; Lynch, David R.; Blair, Ian A.] Univ Penn, Dept Pharmacol, Perelman Sch Med, Philadelphia, PA 19104 USA.
[Basu, Sankha S.; Blair, Ian A.] Univ Penn, Ctr Excellence Environm Toxicol, Perelman Sch Med, Philadelphia, PA 19104 USA.
[Basu, Sankha S.; Blair, Ian A.] Univ Penn, Ctr Canc Pharmacol, Perelman Sch Med, Philadelphia, PA 19104 USA.
[Deutsch, Eric C.; Lynch, David R.] Univ Penn, Childrens Hosp Philadelphia, Dept Neurol, Philadelphia, PA 19104 USA.
[Deutsch, Eric C.; Lynch, David R.] Univ Penn, Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA.
[Deutsch, Eric C.; Lynch, David R.] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA.
RP Blair, IA (reprint author), Univ Penn, Dept Pharmacol, Perelman Sch Med, Philadelphia, PA 19104 USA.
EM ianblair@mail.med.upenn.edu
FU NIH [P30ES013508, 5T32HL007439]; Friedreich ataxia research alliance
FX This study was supported by the NIH through grant number P30ES013508 and
training grant number 5T32HL007439, as well as a grant from the
Friedreich ataxia research alliance. The authors have no other relevant
affiliations or financial involvement with any organization or entity
with a financial interest in or financial conflict with the subject
matter or materials discussed in the manuscript apart from those
disclosed.
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TC 1
Z9 1
PU FUTURE SCI LTD
PI LONDON
PA UNITED HOUSE, 2 ALBERT PL, LONDON, N3 1QB, ENGLAND
SN 1757-6180
EI 1757-6199
J9 BIOANALYSIS
JI Bioanalysis
PD DEC
PY 2013
VL 5
IS 24
BP 3009
EP 3021
DI 10.4155/BIO.13.269
PG 13
WC Biochemical Research Methods; Chemistry, Analytical
SC Biochemistry & Molecular Biology; Chemistry
GA 304CI
UT WOS:000330723000010
PM 24320127
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PT J
AU Classen, S
Monahan, M
Brown, KE
Hernandez, S
AF Classen, Sherrilene
Monahan, Miriam
Brown, Kiah E.
Hernandez, Stephanie
TI Driving indicators in teens with attention deficit hyperactivity and/or
autism spectrum disorder
SO CANADIAN JOURNAL OF OCCUPATIONAL THERAPY-REVUE CANADIENNE D ERGOTHERAPIE
LA English
DT Article
DE Adolescents; Attention-deficit disorder with hyperactivity; Automobile
driving; Pervasive developmental disorders
ID SPECIAL-EDUCATION SERVICES; DEFICIT/HYPERACTIVITY DISORDER; CHILDREN;
ADULTS; ADHD; PERFORMANCE; ADOLESCENTS; SYMPTOMS; SAMPLE
AB Background. Motor vehicle crashes are leading causes of death among teens. Those teens with attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), or a dual diagnosis of ADHD/ASD have defining characteristics placing them at a greater risk for crashes. Purpose. This study examined the between-group demographic, clinical, and simulated driving differences in teens, representing three diagnostic groups, compared to healthy controls (HCs). Method. In this prospective observational study, we used a convenience sample of teens recruited from a variety of community settings. Findings. Compared to the 22 HCs (mean age = 14.32, SD = +/-.72), teen drivers representing the diagnostic groups (ADHD/ASD, n = 6, mean age = 15.00, SD = +/-.63; ADHD, n = 9, mean age = 15.00, SD = +/- 1.00; ASD, n = 7, mean age = 15.14, SD = +/-.1.22) performed poorer on visual function, visual-motor integration, cognition, and motor performance and made more errors on the driving simulator. Implications. Teens from diagnostic groups have more deficits driving on a driving simulator and may require a comprehensive driving evaluation.
C1 [Classen, Sherrilene] Univ Western Ontario, Sch Occupat Therapy, London, ON N6G 1H1, Canada.
[Monahan, Miriam] Univ Florida, Coll Publ Hlth & Hlth Profess, Dept Occupat Therapy, Gainesville, FL 32610 USA.
[Brown, Kiah E.; Hernandez, Stephanie] Univ Florida, Coll Publ Hlth & Hlth Profess, Bachelor Hlth Sci Program, Gainesville, FL USA.
RP Classen, S (reprint author), Univ Western Ontario, Elborn Coll, 1201 Western Rd, London, ON N6G 1H1, Canada.
EM sclassen@uwo.ca
FU University of Florida and Shands Quasi Endowment Fund
FX This study was funded by the 2011-2012 University of Florida and Shands
Quasi Endowment Fund (PI: Classen).
CR American Occupational Therapy Association, 2010, STATEMENTS DRIVING A
American Psychiatric Association, 2000, DIAGNOSTIC AND STATI
American Psychiatric Association, 2013, DIAGNOSTIC AND STATI
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NR 41
TC 0
Z9 0
PU CANADIAN ASSOC OCCUPATIONAL THERAPISTS
PI OTTAWA
PA CTTC BLDG, 3400-1125 COLONEL BY DRIVE, OTTAWA, ONTARIO K1S 5R1, CANADA
SN 0008-4174
EI 1911-9828
J9 CAN J OCCUP THER
JI Can. J. Occup. Ther.
PD DEC
PY 2013
VL 80
IS 5
BP 274
EP 283
DI 10.1177/0008417413501072
PG 10
WC Rehabilitation
SC Rehabilitation
GA 302HO
UT WOS:000330594700006
PM 24640642
ER
PT J
AU Zuchova, S
Kubena, AA
Erler, T
Papezova, H
AF Zuchova, Svetlana
Kubena, Ales Antonin
Erler, Theodore
Papezova, Hana
TI Neuropsychological variables and clinical status in anorexia nervosa:
relationship between visuospatial memory and central coherence and
eating disorder symptom severity
SO EATING AND WEIGHT DISORDERS-STUDIES ON ANOREXIA BULIMIA AND OBESITY
LA English
DT Article
DE Anorexia nervosa; Neuropsychology; Rey complex figure test; Visuospatial
memory; Central coherence
ID OBSESSIVE-COMPULSIVE DISORDER; OSTERRIETH COMPLEX FIGURE; COGNITIVE
REMEDIATION THERAPY; AUTISM SPECTRUM DISORDERS; DECISION-MAKING;
BULIMIA-NERVOSA; WEAK COHERENCE; WOMEN; SCHIZOPHRENIA; IMPAIRMENT
AB Aim To explore the relationship between visuospatial memory, weak central coherence, and eating disorder (ED) symptoms in anorexia nervosa (AN) inpatients.
Sample 31 female AN inpatients.
Methods Rey complex figure test (RCFT) was used to assess both visuospatial memory and central coherence. RCFT consisted of copy and recall trials. ED symptoms were assessed by The Eating Disorder Examination-Questionnaire (EDE-Q) and The Clinical and Research Inventory for Eating Disorders (CR-EAT).
Results We found a statistically significant negative correlation between recall accuracy and the total EDE-Q score. Furthermore, recall accuracy and recall central coherence significantly negatively correlate with several EDE-Q and CR-EAT scales.
Conclusions These findings may contribute to a better understanding of cognitive impairments specifically in ED, and to refining interventions aiming at their improvement.
C1 [Zuchova, Svetlana; Papezova, Hana] Charles Univ Prague, Fac Med 1, Dept Psychiat, Prague 12000 2, Czech Republic.
[Zuchova, Svetlana; Papezova, Hana] Gen Univ Hosp Prague, Prague 12000 2, Czech Republic.
[Kubena, Ales Antonin] Acad Sci Czech Republic, Inst Informat Theory & Automat, Prague 18221 8, Czech Republic.
[Erler, Theodore] Acad Sci Czech Republic, Inst Phys, Prague 18221 8, Czech Republic.
RP Zuchova, S (reprint author), Charles Univ Prague, Fac Med 1, Dept Psychiat, Ke Karlovu 11, Prague 12000 2, Czech Republic.
EM svetlana.zuchova@gmail.com
RI Kubena, Ales Antonin/A-3766-2015
OI Kubena, Ales Antonin/0000-0002-9599-8277
FU FP6 Marie Curie Research Training Network INTACT [MRTN-CT-2006-035988];
IGA MZ (Internal Grant Agency of the Ministry of Health) [NT 14094-3]
FX This work was supported by funding from the FP6 Marie Curie Research
Training Network INTACT (Individually tailored stepped care for women
with eating disorders; Reference Number: MRTN-CT-2006-035988) and from
the grant IGA MZ (Internal Grant Agency of the Ministry of Health) NT
14094-3.
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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 1124-4909
EI 1590-1262
J9 EAT WEIGHT DISORD-ST
JI Eat. Weight Disord.-Stud. Anorex.
PD DEC
PY 2013
VL 18
IS 4
BP 421
EP 428
DI 10.1007/s40519-013-0062-7
PG 8
WC Psychiatry
SC Psychiatry
GA AA0PX
UT WOS:000330799200011
PM 24014260
ER
PT J
AU Bellani, M
Calderoni, S
Muratori, F
Brambilla, P
AF Bellani, M.
Calderoni, S.
Muratori, F.
Brambilla, P.
TI Brain anatomy of autism spectrum disorders II. Focus on amygdala
SO EPIDEMIOLOGY AND PSYCHIATRIC SCIENCES
LA English
DT Article
DE Amygdala; Autism Spectrum Disorders (ASD); Structural Magnetic Resonance
Imaging (sMRI); Volumes
ID CHILDREN; ENLARGEMENT; VOLUME; HIPPOCAMPUS
AB This brief review encompasses the key findings of structural Magnetic Resonance Imaging (sMRI) research on amygdala volume in autism spectrum disorders (ASD). We also highlight the possible correlation between the autistic behavioural phenotype and amygdala alteration.
C1 [Bellani, M.] Univ Verona, ICBN, Dept Publ Hlth & Community Med, Sect Psychiat, I-37134 Verona, Italy.
[Bellani, M.] Univ Verona, ICBN, Sect Clin Psychol, I-37134 Verona, Italy.
[Calderoni, S.; Muratori, F.] IRCCS, Stella Maris Fdn, Pisa, Italy.
[Muratori, F.] Univ Pisa, Dept Child Neurol & Psychiat, I-56100 Pisa, Italy.
[Muratori, F.] Univ Udine, ICBN, Dept Expt Clin Med, I-33100 Udine, Italy.
[Brambilla, P.] Univ Texas Houston, Sch Med, Dept Psychiat & Behav Sci, Houston, TX USA.
RP Bellani, M (reprint author), Univ Verona, Dept Publ Hlth & Community Med, Sect Psychiat, Piazzale LA Scuro 10, I-37134 Verona, Italy.
EM marcella.bellani@univr.it; paolo.brambilla@uniud.it
FU Italian Ministry of Health; Tuscany Region [GR-2010-2317873]; European
Union
FX S. C. was partly supported by the Italian Ministry of Health and by
Tuscany Region with the grant 'GR-2010-2317873'. F. M. and S. C. were
partly supported by the European Union (The MICHELANGELO Project). The
other authors received no specific grant from any funding agency,
commercial or not-for-profit sectors for this publication.
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Stanfield AC, 2008, EUR PSYCHIAT, V23, P289, DOI 10.1016/j.eurpsy.2007.05.006
NR 16
TC 2
Z9 2
PU CAMBRIDGE UNIV PRESS
PI CAMBRIDGE
PA EDINBURGH BLDG, SHAFTESBURY RD, CB2 8RU CAMBRIDGE, ENGLAND
SN 2045-7960
EI 2045-7979
J9 EPIDEMIOL PSYCH SCI
JI Epidemiol. Psychiatr. Sci.
PD DEC
PY 2013
VL 22
IS 4
BP 309
EP 312
DI 10.1017/S2045796013000346
PG 4
WC Psychiatry
SC Psychiatry
GA 299BX
UT WOS:000330370900006
PM 23815810
ER
PT J
AU Matsushima, K
Kato, T
AF Matsushima, Kanae
Kato, Toshihiro
TI Social Interaction and Atypical Sensory Processing in Children with
Autism Spectrum Disorders
SO HONG KONG JOURNAL OF OCCUPATIONAL THERAPY
LA English
DT Article
DE autism spectrum disorder; sensory processing disorder; social
interaction deficits
ID PERVASIVE DEVELOPMENTAL DISORDERS; PRESCHOOL-CHILDREN; YOUNG-CHILDREN;
RESPONSIVENESS; PATTERNS; INTEGRATION; SYMPTOMS; DISABILITIES;
ASSOCIATION; BEHAVIOR
AB Objective/Background: Many children with autism spectrum disorders (ASDs) have sensory processing disorders (SPDs), which may limit many facets of daily life, including social interaction, an important domain of occupational therapy. Therefore, we examined the relationship between social interaction deficits and SPD in 4-6-year-old children with ASD without intellectual disorders.
Methods: The Social Responsiveness Scale (SRS) and the Japanese Sensory Inventory-Revised (JSI-R) questionnaires were administered to parents of children with ASD and children in the control group (n = 42 each).
Results: Response analyses revealed significant intergroup differences in scores for the questionnaires, with more atypical sensory processing patterns and social interaction deficits observed in children with ASD. Significant correlations were observed between the SRS total raw scores and subcategory scores of all sensory modalities of the JSI-R in the entire experimental group. The SPD symptoms were significantly associated with social interaction deficits in children with ASD.
Conclusion: It is important that occupational therapists consider SPD symptoms in children with ASD to provide early intervention for social interaction deficits. Copyright (C) 2013, Elsevier (Singapore) Pte. Ltd. All rights reserved.
C1 [Matsushima, Kanae; Kato, Toshihiro] Kyoto Univ, Grad Sch Med, Kyoto, Japan.
RP Matsushima, K (reprint author), Kyoto Univ, Grad Sch Med, Sakyo Ku, 53 Syogoin Kawahara Cho, Kyoto, Japan.
EM matsushima.kanae.7e@kyoto-u.ac.jp
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NR 48
TC 1
Z9 1
PU ELSEVIER SINGAPORE PTE LTD
PI SINGAPORE
PA 3 KILLINEY ROAD 08-01, WINSLAND HOUSE 1, SINGAPORE, 239519, SINGAPORE
SN 1569-1861
J9 HONG KONG J OCCUP TH
JI Hong Kong J. Occup. Ther.
PD DEC
PY 2013
VL 23
IS 2
BP 89
EP 96
DI 10.1016/j.hkjot.2013.11.003
PG 8
WC Rehabilitation
SC Rehabilitation
GA 302LK
UT WOS:000330605800007
ER
PT J
AU van der Meer, JMJ
Harfterkamp, M
van de Loo-Neus, G
Althaus, M
de Ruiter, SW
Donders, ART
de Sonneville, LMJ
Buitelaar, JK
Hoekstra, PJ
Rommelse, NNJ
AF van der Meer, Jolanda M. J.
Harfterkamp, Myriam
van de Loo-Neus, Gigi
Althaus, Monika
de Ruiter, Saskia W.
Donders, A. Rogier T.
de Sonneville, Leo M. J.
Buitelaar, Jan K.
Hoekstra, Pieter J.
Rommelse, Nanda N. J.
TI A Randomized, Double-Blind Comparison of Atomoxetine and Placebo on
Response Inhibition and Interference Control in Children and Adolescents
With Autism Spectrum Disorder and Comorbid
Attention-Deficit/Hyperactivity Disorder Symptoms
SO JOURNAL OF CLINICAL PSYCHOPHARMACOLOGY
LA English
DT Letter
ID DEFICIT HYPERACTIVITY DISORDER; ADHD; ACTIVATION; BOYS
C1 [van der Meer, Jolanda M. J.; Buitelaar, Jan K.] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Cognit Neurosci, NL-6525 ED Nijmegen, Netherlands.
[van der Meer, Jolanda M. J.; van de Loo-Neus, Gigi; de Ruiter, Saskia W.; Buitelaar, Jan K.; Rommelse, Nanda N. J.] Univ Ctr Nijmegen, Nijmegen, Netherlands.
[Harfterkamp, Myriam; Althaus, Monika; Hoekstra, Pieter J.] Univ Groningen, Univ Med Ctr Groningen, Dept Psychiat, Groningen, Netherlands.
[Donders, A. Rogier T.] Radboud Univ Nijmegen, Med Ctr, Dept Epidemiol Biostat & HTA, NL-6525 ED Nijmegen, Netherlands.
[de Sonneville, Leo M. J.] Leiden Univ, Fac Social Sci, Leiden Inst Brain & Cognit, Dept Clin Child & Adolescent Studies, Leiden, Netherlands.
[Rommelse, Nanda N. J.] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Psychiat, NL-6525 ED Nijmegen, Netherlands.
RP van der Meer, JMJ (reprint author), Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Cognit Neurosci, NL-6525 ED Nijmegen, Netherlands.
EM J.vanderMeer@psy.umcn.nl
RI Rommelse, Nanda/D-4872-2009; Hoekstra, Pieter/O-4396-2014
OI Rommelse, Nanda/0000-0002-1711-0359;
CR Arnold LE, 2006, J AM ACAD CHILD PSY, V45, P1196, DOI 10.1097/01.chi.0000231976.28719.2a
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NR 20
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0271-0749
EI 1533-712X
J9 J CLIN PSYCHOPHARM
JI J. Clin. Psychopharmacol.
PD DEC
PY 2013
VL 33
IS 6
BP 824
EP 827
PG 4
WC Pharmacology & Pharmacy; Psychiatry
SC Pharmacology & Pharmacy; Psychiatry
GA 298TG
UT WOS:000330346800020
PM 24018545
ER
PT J
AU Szulc, KU
Nieman, BJ
Houston, EJ
Bartelle, BB
Lerch, JP
Joyner, AL
Turnbull, DH
AF Szulc, Kamila U.
Nieman, Brian J.
Houston, Edward J.
Bartelle, Benjamin B.
Lerch, Jason P.
Joyner, Alexandra L.
Turnbull, Daniel H.
TI MRI Analysis of Cerebellar and Vestibular Developmental Phenotypes in
Gbx2 Conditional Knockout Mice
SO MAGNETIC RESONANCE IN MEDICINE
LA English
DT Article
DE brain development; cerebellum; gastrulation brain homeobox 2 gene
(Gbx2); manganese-enhanced MRI (MEMRI); mid-hindbrain;
vestibulo-cochlear organ
ID MOUSE-BRAIN; MID/HINDBRAIN ORGANIZER; IN-UTERO; MODEL; DISEASE; AUTISM;
GENES; ABNORMALITIES; REGISTRATION; MANGANESE
AB PurposeOur aim in this study was to apply three-dimensional MRI methods to analyze early postnatal morphological phenotypes in a Gbx2 conditional knockout (Gbx2-CKO) mouse that has variable midline deletions in the central cerebellum, reminiscent of many human cerebellar hypoplasia syndromes.
MethodsIn vivo three-dimensional manganese-enhanced MRI at 100-mu m isotropic resolution was used to visualize mouse brains between postnatal days 3 and 11, when cerebellum morphology undergoes dramatic changes. Deformation-based morphometry and volumetric analysis of manganese-enhanced MRI images were used to, respectively, detect and quantify morphological phenotypes in Gbx2-CKO mice. Ex vivo micro-MRI was performed after perfusion-fixation with supplemented gadolinium for higher resolution (50-mu m) analysis.
ResultsIn vivo manganese-enhanced MRI and deformation-based morphometry correctly identified known cerebellar defects in Gbx2-CKO mice, and novel phenotypes were discovered in the deep cerebellar nuclei and the vestibulo-cerebellum, both validated using histology. Ex vivo micro-MRI revealed subtle phenotypes in both the vestibulo-cerebellum and the vestibulo-cochlear organ, providing an interesting example of complementary phenotypes in a sensory organ and its associated brain region.
ConclusionThese results show the potential of three-dimensional MRI for detecting and analyzing developmental defects in mouse models of neurodevelopmental diseases. Magn Reson Med 70:1707-1717, 2013. (c) 2013 Wiley Periodicals, Inc.
C1 [Szulc, Kamila U.; Houston, Edward J.; Bartelle, Benjamin B.] NYU, Sch Med, Skirball Inst Biomol Med, Kimmel Ctr Biol & Med, New York, NY 10016 USA.
[Szulc, Kamila U.; Turnbull, Daniel H.] NYU, Sch Med, Biomed Imaging Program, New York, NY 10016 USA.
[Nieman, Brian J.; Lerch, Jason P.] Hosp Sick Children, Mouse Imaging Ctr, Toronto, ON M5G 1X8, Canada.
[Bartelle, Benjamin B.; Turnbull, Daniel H.] NYU, Sch Med, Mol Biophys Grad Program, New York, NY 10016 USA.
[Joyner, Alexandra L.] Sloan Kettering Inst, Dev Biol Program, New York, NY USA.
[Turnbull, Daniel H.] NYU, Sch Med, Dept Radiol, New York, NY 10016 USA.
[Turnbull, Daniel H.] NYU, Sch Med, Dept Pathol, New York, NY 10016 USA.
RP Turnbull, DH (reprint author), NYU, Sch Med, Skirball Inst Biomol Med, 540 First Ave, New York, NY 10016 USA.
EM daniel.turnbull@med.nyu.edu
FU NIH [RO1 N5038461]
FX Grant sponsor: NIH; Grand number: RO1 N5038461.
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NR 36
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0740-3194
EI 1522-2594
J9 MAGN RESON MED
JI Magn. Reson. Med.
PD DEC
PY 2013
VL 70
IS 6
BP 1707
EP 1717
DI 10.1002/mrm.24597
PG 11
WC Radiology, Nuclear Medicine & Medical Imaging
SC Radiology, Nuclear Medicine & Medical Imaging
GA 296JV
UT WOS:000330182100025
PM 23400959
ER
PT J
AU Bortolato, M
Godar, SC
Tambaro, S
Li, FG
Devoto, P
Coba, MP
Chen, K
Shih, JC
AF Bortolato, Marco
Godar, Sean C.
Tambaro, Simone
Li, Felix G.
Devoto, Paola
Coba, Marcelo P.
Chen, Kevin
Shih, Jean C.
TI Early postnatal inhibition of serotonin synthesis results in long-term
reductions of perseverative behaviors, but not aggression, in MAO
A-deficient mice
SO NEUROPHARMACOLOGY
LA English
DT Article
DE Serotonin; Monoamine oxidase A; Animal models; Early developmental
stages; Perseverative behaviors; Aggression
ID MONOAMINE-OXIDASE-A; TRANSPORTER KNOCKOUT MICE; SOMATOSENSORY CORTEX;
MENTAL-RETARDATION; SOCIAL-INTERACTION; BLOOD SEROTONIN; AUTISM
SEVERITY; ANXIETY; DISORDERS; GENE
AB Monoamine oxidase (MAO) A, the major enzyme catalyzing the oxidative degradation of serotonin (5hydroxytryptamine, 5-HT), plays a key role in emotional regulation. In humans and mice, MAO-A deficiency results in high 5-HT levels, antisocial, aggressive, and perseverative behaviors. We previously showed that the elevation in brain 5-HT levels in MAO-A knockout (KO) mice is particularly marked during the first two weeks of postnatal life. Building on this finding, we hypothesized that the reduction of 5-HT levels during these early stages may lead to enduring attenuations of the aggression and other behavioral aberrances observed in MAO-A KO mice. To test this possibility, MAO-A KO mice were treated with daily injections of a 5-HT synthesis blocker, the tryptophan hydroxylase inhibitor p-chlorophenylalanine (pCPA, 300 mg/kg/day, IP), from postnatal day 1 through 7. As expected, this regimen significantly reduced 5-HT forebrain levels in MAO-A KO pups. These neurochemical changes persisted throughout adulthood, and resulted in significant reductions in marble-burying behavior, as well as increases in spontaneous alternations within a T-maze. Conversely, pCPA-treated MAO-A KO mice did not exhibit significant changes in anxiety-like behaviors in a novel open-field and elevated plus-maze; furthermore, this regimen did not modify their social deficits, aggressive behaviors and impairments in tactile sensitivity. Treatment with pCPA from postnatal day 8 through 14 elicited similar, yet milder, behavioral effects on marble-burying behavior. These results suggest that early developmental enhancements in 5-HT levels have long-term effects on the modulation of behavioral flexibility associated with MAO-A deficiency. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Bortolato, Marco] Univ Kansas, Sch Pharm, Dept Pharmacol & Toxicol, Lawrence, KS 66045 USA.
[Godar, Sean C.; Tambaro, Simone; Li, Felix G.; Chen, Kevin; Shih, Jean C.] Univ So Calif, Sch Pharm, Dept Pharmacol & Pharmaceut Sci, Los Angeles, CA 90033 USA.
[Coba, Marcelo P.] Univ So Calif, Keck Sch Med, Dept Psychiat & Behav Sci, Los Angeles, CA 90033 USA.
[Shih, Jean C.] Univ So Calif, Keck Sch Med, Dept Cell & Neurobiol, Los Angeles, CA 90033 USA.
[Devoto, Paola] Univ Cagliari, Dept Neurosci BB Brodie, Guy Everett Lab, I-09124 Monserrato, CA, Italy.
RP Bortolato, M (reprint author), Univ Kansas, Sch Pharm, Dept Pharmacol & Toxicol, MH 5040,1251 Wescoe Hall Dr, Lawrence, KS 66045 USA.
EM bortolato@ku.edu; jcshih@usc.edu
FU National Institute of Health (NIH) [R01MH39085, R21HD070611]; Tourette
Syndrome Association; Boyd and Elsie Welin Professorship; NIH
[P20GM103638, UL1TR000001]
FX The present study was supported by National Institute of Health (NIH)
grants (R01MH39085 to J.C.S., R21HD070611 to M.B.), Research Grant from
the Tourette Syndrome Association (to MB), and the Boyd and Elsie Welin
Professorship (to J.C.S.). This study was also partially supported by
sub-awards (to M.B.) from the NIH grants P20GM103638 and UL1TR000001
(formerly UL1RR033179), awarded to the University of Kansas and
University of Kansas Medical Center. The authors are indebted to the EU
COST Action CM1103 "Structure-based drug design for diagnosis and
treatment of neurological diseases: dissecting and modulating complex
function in the monoaminergic systems of the brain" for supporting their
international collaboration. The authors are grateful to Bogdan Olenyuk,
Li Zhou, jassmine Ren, Mona Dousti and Paradai Adisayathepkul for their
valuable support in the execution of the experiments. No conflicts of
interest were declared by any authors. None of the institutions had any
further role in study design; in the collection, analysis and
interpretation of data; in the writing of the report; and in the
decision to submit the paper for publication.
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NR 66
TC 5
Z9 5
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3908
EI 1873-7064
J9 NEUROPHARMACOLOGY
JI Neuropharmacology
PD DEC
PY 2013
VL 75
SI SI
BP 223
EP 232
DI 10.1016/j.neuropharm.2013.07.003
PG 10
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA 300UU
UT WOS:000330490300024
PM 23871843
ER
PT J
AU Pfeiffer, UJ
Vogeley, K
Schilbach, L
AF Pfeiffer, Ulrich J.
Vogeley, Kai
Schilbach, Leonhard
TI From gaze cueing to dual eye-tracking: Novel approaches to investigate
the neural correlates of gaze in social interaction
SO NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
LA English
DT Review
DE Social interaction; Gaze; Eye-tracking; Joint attention; Hyperscanning;
Mentalizing; Autism
ID SUPERIOR TEMPORAL SULCUS; IMMERSIVE VIRTUAL ENVIRONMENTS; AUTISM
SPECTRUM TRAITS; MEDIAL-FRONTAL-CORTEX; TO-FACE INTERACTION; JOINT
ATTENTION; INTRAPARIETAL SULCUS; BRAIN MECHANISMS; VISUAL-ATTENTION;
AVERTED GAZE
AB Tracking eye-movements provides easy access to cognitive processes involved in visual and sensorimotor processing. More recently, the underlying neural mechanisms have been examined by combining eye-tracking and functional neuroimaging methods. Apart from extracting visual information, gaze also serves important functions in social interactions. As a deictic cue, gaze can be used to direct the attention of another person to an object. Conversely, by following other persons' gaze we gain access to their attentional focus, which is essential for understanding their mental states. Social gaze has therefore been studied extensively to understand the social brain. In this endeavor, gaze has mostly been investigated from an observational perspective using static displays of faces and eyes. However, there is growing consent that observational paradigms are insufficient for an understanding of the neural mechanisms of social gaze behavior, which typically involve active engagement in social interactions. Recent methodological advances have allowed increasing ecological validity by studying gaze in face-to-face encounters in real-time. Such improvements include interactions using virtual agents in gaze-contingent eye-tracking paradigms, live interactions via video feeds, and dual eye-tracking in two-person setups. These novel approaches can be used to analyze brain activity related to social gaze behavior. This review introduces these methodologies and discusses recent findings on the behavioral functions and neural mechanisms of gaze processing in social interaction. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Pfeiffer, Ulrich J.; Vogeley, Kai; Schilbach, Leonhard] Univ Hosp Cologne, Dept Psychiat, Neuroimaging Grp, D-50937 Cologne, Germany.
[Vogeley, Kai] Res Ctr Juelich, Inst Neurosci & Med Cognit Neurosci INM3, D-52428 Julich, Germany.
RP Pfeiffer, UJ (reprint author), Univ Hosp Cologne, Dept Psychiat, Neuroimaging Grp, Kelpener Str 62, D-50937 Cologne, Germany.
EM ulrich.pfeiffer@uk-koeln.de
RI Vogeley, K/E-4860-2012
OI Vogeley, K/0000-0002-5891-5831
FU Medical Faculty at the University of Cologne; Volkswagen Foundation
FX This work is partly based on the PhD thesis by U.P., which is supported
by grants of the Koln Fortune Program of the Medical Faculty at the
University of Cologne and the Volkswagen Foundation to L.S.
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NR 148
TC 11
Z9 11
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0149-7634
EI 1873-7528
J9 NEUROSCI BIOBEHAV R
JI Neurosci. Biobehav. Rev.
PD DEC
PY 2013
VL 37
IS 10
BP 2516
EP 2528
DI 10.1016/j.neubiorev.2013.07.017
PN 2
PG 13
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 300UT
UT WOS:000330490200007
PM 23928088
ER
PT J
AU Bello-Mojeed, MA
Bakare, MO
AF Bello-Mojeed, Mashudat A.
Bakare, Muideen O.
TI Improving Treatment of Children with Autism Spectrum Disorder in Low-
and Middle-Income Countries: The Role of Non-specialist Care Providers
SO PLOS MEDICINE
LA English
DT Editorial Material
ID MENTAL-HEALTH
C1 [Bello-Mojeed, Mashudat A.] Fed Neuropsychiat Hosp, Child & Adolescent Ctr, Lagos, Nigeria.
[Bakare, Muideen O.] Fed Neuropsychiat Hosp, Child & Adolescent Unit, New Haven, Enugu, Nigeria.
RP Bello-Mojeed, MA (reprint author), Fed Neuropsychiat Hosp, Child & Adolescent Ctr, Lagos, Nigeria.
EM abiolat4eva@yahoo.co.uk
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NR 14
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1549-1676
J9 PLOS MED
JI PLos Med.
PD DEC
PY 2013
VL 10
IS 12
AR e1001573
DI 10.1371/journal.pmed.1001573
PG 2
WC Medicine, General & Internal
SC General & Internal Medicine
GA 301LR
UT WOS:000330534300012
PM 24358030
ER
PT J
AU Reichow, B
Servili, C
Yasamy, MT
Barbui, C
Saxena, S
AF Reichow, Brian
Servili, Chiara
Yasamy, M. Taghi
Barbui, Corrado
Saxena, Shekhar
TI Non-Specialist Psychosocial Interventions for Children and Adolescents
with Intellectual Disability or Lower-Functioning Autism Spectrum
Disorders: A Systematic Review
SO PLOS MEDICINE
LA English
DT Review
ID RANDOMIZED CONTROLLED-TRIAL; INTENSIVE BEHAVIORAL TREATMENT;
MIDDLE-INCOME COUNTRIES; GLOBAL MENTAL-HEALTH; EARLY LITERACY PROGRAM;
DEVELOPMENTAL-DISABILITIES; YOUNG-CHILDREN; DOWN-SYNDROME; SCREENING
QUESTIONNAIRE; FAMILY INTERVENTION
AB Background: The development of effective treatments for use by non-specialists is listed among the top research priorities for improving the lives of people with mental illness worldwide. The purpose of this review is to appraise which interventions for children with intellectual disabilities or lower-functioning autism spectrum disorders delivered by non-specialist care providers in community settings produce benefits when compared to either a no-treatment control group or treatment-as-usual comparator.
Methods and Findings: We systematically searched electronic databases through 24 June 2013 to locate prospective controlled studies of psychosocial interventions delivered by non-specialist providers to children with intellectual disabilities or lower-functioning autism spectrum disorders. We screened 234 full papers, of which 34 articles describing 29 studies involving 1,305 participants were included. A majority of the studies included children exclusively with a diagnosis of lower-functioning autism spectrum disorders (15 of 29, 52%). Fifteen of twenty-nine studies (52%) were randomized controlled trials and just under half of all effect sizes (29 of 59, 49%) were greater than 0.50, of which 18 (62%) were statistically significant. For behavior analytic interventions, the best outcomes were shown for development and daily skills; cognitive rehabilitation, training, and support interventions were found to be most effective for improving developmental outcomes, and parent training interventions to be most effective for improving developmental, behavioral, and family outcomes. We also conducted additional subgroup analyses using harvest plots. Limitations include the studies' potential for performance bias and that few were conducted in lower-and middle-income countries.
Conclusions: The findings of this review support the delivery of psychosocial interventions by non-specialist providers to children who have intellectual disabilities or lower-functioning autism spectrum disorders. Given the scarcity of specialists in many low-resource settings, including many lower-and middle-income countries, these findings may provide guidance for scale-up efforts for improving outcomes for children with developmental disorders or lower-functioning autism spectrum disorders.
Protocol Registration: PROSPERO CRD42012002641
C1 [Reichow, Brian] Yale Univ, Sch Med, Yale Child Study Ctr, New Haven, CT 06520 USA.
[Reichow, Brian] Univ Connecticut, Ctr Hlth, Farmington, CT USA.
[Servili, Chiara; Yasamy, M. Taghi; Saxena, Shekhar] World Hlth Org, Geneva, Switzerland.
[Barbui, Corrado] Univ Verona, WHO Collaborating Ctr Res & Training Mental Hlth, Sect Psychiat, Dept Publ Hlth & Community Med, I-37100 Verona, Italy.
RP Reichow, B (reprint author), Yale Univ, Sch Med, Yale Child Study Ctr, New Haven, CT 06520 USA.
EM reichow@uchc.edu
FU Autism Speaks
FX WHO supported this review through a fund from Autism Speaks
(www.autismspeaks.org). The authors alone are responsible for the views
expressed in this publication and these views do not necessarily
represent the decisions, policy, or views of the universities by which
the authors are associated, the World Health Organization, or any of the
funders. 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 175
TC 4
Z9 4
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1549-1676
J9 PLOS MED
JI PLos Med.
PD DEC
PY 2013
VL 10
IS 12
AR e1001572
DI 10.1371/journal.pmed.1001572
PG 27
WC Medicine, General & Internal
SC General & Internal Medicine
GA 301LR
UT WOS:000330534300011
PM 24358029
ER
PT J
AU Citta, S
Buono, S
Greco, D
Barone, C
Alfei, E
Bulgheroni, S
Usilla, A
Pantaleoni, C
Romano, C
AF Citta, Santina
Buono, Serafino
Greco, Donatella
Barone, Concetta
Alfei, Enrico
Bulgheroni, Sara
Usilla, Arianna
Pantaleoni, Chiara
Romano, Corrado
TI 3q29 Microdeletion Syndrome: Cognitive and Behavioral Phenotype in Four
Patients
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE 3q29 microdeletion syndrome; behavioral phenotype; cognitive phenotype
ID COPY NUMBER VARIANTS; DE-NOVO; SCHIZOPHRENIA; MICRODUPLICATION;
DISORDERS; ABNORMALITIES; FREQUENCY; DELETION
AB The 3q29 microdeletion syndrome is a rare, recurrent genomic disorder, associated with a variable phenotype, despite the same deletion size, consisting in neurodevelopmental features, such as intellectual disability (ID), schizophrenia, autism, bipolar disorder, depression and mild facial morphological anomalies/congenital malformations. A thorough neuropsychiatric evaluation has never been reported in patients with such syndrome. We analyzed the clinical phenotype of four individuals with 3q29 microdeletion syndrome, with special emphasis on the cognitive and behavioral assessment, in order to delineate the neuropsychiatric phenotype related to this condition. We assessed these patients with standardized scales or checklists measuring the cognitive (WISC III or LIPS-R), behavioral (CBCL) and adaptive (VABS) performances. An accurate evaluation in our sample highlights different degrees of ID, variable behavioral disorders, and a preservation of communicative skills among remaining adaptive areas, as the neuropsychiatric hallmark of 3q29 microdeletion syndrome. (c) 2013 Wiley Periodicals, Inc.
C1 [Citta, Santina; Buono, Serafino] IRCCS Assoc Oasi Maria Santissima, Unit Psychol, Troina, Italy.
[Greco, Donatella; Barone, Concetta; Romano, Corrado] IRCCS Assoc Oasi Maria Santissima, Unit Pediat & Med Genet, Troina, Italy.
[Alfei, Enrico; Bulgheroni, Sara; Usilla, Arianna; Pantaleoni, Chiara] Fdn IRCCS Ist Neurol Carlo Besta, Milan, Italy.
RP Romano, C (reprint author), Via Conte Ruggero 73, I-94018 Troina, Italy.
EM cromano@oasi.en.it
RI Romano, Corrado/B-9695-2008
OI Romano, Corrado/0000-0003-1049-0683
FU Italian Ministry of Health; 5 per mille
FX This work was supported by the Italian Ministry of Health and "5 per
mille" funding. The authors wish to thank Doctor Marco Fichera (Patients
1 and 2) and Professor Orsetta Zuffardi (Patients 3 and 4) for the
achievement of the 3q29 microdeletion diagnosis in their labs. This has
been the starting point for the study reported in the present article.
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NR 31
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 DEC
PY 2013
VL 161
IS 12
BP 3018
EP 3022
DI 10.1002/ajmg.a.36142
PG 5
WC Genetics & Heredity
SC Genetics & Heredity
GA 294IF
UT WOS:000330038000010
PM 24214349
ER
PT J
AU Le Fevre, AK
Taylor, S
Malek, NH
Horn, D
Carr, CW
Abdul-Rahman, OA
O'Donnell, S
Burgess, T
Shaw, M
Gecz, J
Bain, N
Fagan, K
Hunter, MF
AF Le Fevre, Anna K.
Taylor, Sharelle
Malek, Neva H.
Horn, Denise
Carr, Christopher W.
Abdul-Rahman, Omar A.
O'Donnell, Sherindan
Burgess, Trent
Shaw, Marie
Gecz, Jozef
Bain, Nicole
Fagan, Kerry
Hunter, Matthew F.
TI FOXP1 Mutations Cause Intellectual Disability and a Recognizable
Phenotype
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE FOXP1; intellectual disability; chromosomal microdeletion; 3p13;
speech-language pathology
ID DEVELOPMENTAL VERBAL DYSPRAXIA; FORKHEAD TRANSCRIPTION FACTORS; DE-NOVO
MUTATIONS; LANGUAGE IMPAIRMENT; MENTAL-RETARDATION; SEVERE SPEECH; PITX3
GENE; AUTISM; DISEASE; FAMILY
AB Mutations in FOXP1, located at 3p13, have been reported in patients with global developmental delay (GDD), intellectual disability (ID), and speech defects. Mutations in FOXP2, located at 7q31, are well known to cause developmental speech and language disorders, particularly developmental verbal dyspraxia (DVD). FOXP2 has been shown to work co-operatively with FOXP1 in mouse development. An overlap in FOXP1 and FOXP2 expression, both in the songbird and human fetal brain, has suggested that FOXP1 may also have a role in speech and language disorders. We report on a male child with a 0.19MB intragenic deletion that is predicted to result in haploinsufficiency of FOXP1. Review of our patient and others reported in the literature reveals an emerging phenotype of GDD/ID with moderate to severe speech delay where expressive speech is most severely affected. DVD appears not to be a distinct feature in this group. Facial features include a broad forehead, downslanting palpebral fissures, a short nose with broad tip, relative or true macrocephaly, a frontal hair upsweep and prominent digit pads. Autistic traits and other behavioral problems are likely to be associated with haploinsufficiency of FOXP1. Congenital malformations may be associated. (c) 2013 Wiley Periodicals, Inc.
C1 [Le Fevre, Anna K.; O'Donnell, Sherindan; Hunter, Matthew F.] Hunter Genet, Newcastle, NSW, Australia.
[Le Fevre, Anna K.] John Hunter Childrens Hosp, Newcastle, NSW, Australia.
[Taylor, Sharelle] Core Intervent Occupat Therapy Serv, Gosford, NSW, Australia.
[Horn, Denise] Charite, Inst Med Genet, Berlin, Germany.
[Carr, Christopher W.] Emory Univ, Dept Dermatol, Atlanta, GA 30322 USA.
[Abdul-Rahman, Omar A.] Univ Mississippi, Med Ctr, Dept Pediat, Jackson, MS 39216 USA.
[Burgess, Trent] VCGS Pathol, Melbourne, Vic, Australia.
[Shaw, Marie; Gecz, Jozef] Univ Adelaide, Dept Pediat, Adelaide, SA 5005, Australia.
[Bain, Nicole; Fagan, Kerry] John Hunter Hosp, Hunter Area Pathol Serv, Newcastle, NSW, Australia.
[Fagan, Kerry; Hunter, Matthew F.] Univ Newcastle, Newcastle, NSW 2300, Australia.
RP Hunter, MF (reprint author), Hunter Genet, Cnr Turton & Tinonee Rd, Waratah, NSW 2298, Australia.
EM hunter.genetics@hnehealth.nsw.gov.au
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NR 50
TC 6
Z9 6
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 DEC
PY 2013
VL 161
IS 12
BP 3166
EP 3175
DI 10.1002/ajmg.a.36174
PG 10
WC Genetics & Heredity
SC Genetics & Heredity
GA 294IF
UT WOS:000330038000032
PM 24214399
ER
PT J
AU Chiliana, B
Abdollahpour, H
Bierhals, T
Haltrich, I
Fekete, G
Nagel, I
Rosenberger, G
Kutsche, K
AF Chiliana, B.
Abdollahpour, H.
Bierhals, T.
Haltrich, I.
Fekete, G.
Nagel, I.
Rosenberger, G.
Kutsche, K.
TI Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual
disability and language impairment supports genetic epistasis of the two
loci
SO CLINICAL GENETICS
LA English
DT Article
DE autism; chromosomal rearrangement; intellectual disability; modifier
gene; SHANK; synaptopathy
ID AUTISM SPECTRUM DISORDER; SCAFFOLDING PROTEIN SHANK3; MUTATIONS;
EXPRESSION; SYNAPTOPATHIES; IDENTIFICATION; NEURONS; TTYH1
AB Synaptopathies constitute a group of neurological diseases including autism spectrum disorders (ASD) and intellectual disability (ID). They have been associated with mutations in genes encoding proteins important for the formation and stabilization of synapses, such as SHANK1-3. Loss-of-function mutations in the SHANK genes have been identified in individuals with ASD and ID suggesting that other factors modify the neurological phenotype. We report a boy with severe ID, behavioral anomalies, and language impairment who carries a balanced de novo triple translocation 46,XY,t(11;17;19)(q13.3;q25.1;q13.42). The 11q13.3 breakpoint was found to disrupt the SHANK2 gene. The patient also carries copy number variations at 15q13.3 and 10q22.11 encompassing ARHGAP11B and two synaptic genes. The CHRNA7 gene encoding 7-nicotinic acetylcholine receptor subunit and the GPRIN2 gene encoding G-protein-regulated inducer of neurite growth 2 were duplicated. Co-occurrence of a de novo SHANK2 mutation and a CHRNA7 duplication in two reported patients with ASD and ID as well as in the patient with t(11;17;19), severe ID and behavior problems suggests convergence of these genes on a common synaptic pathway. Our results strengthen the oligogenic inheritance model and highlight the presence of a large effect mutation and modifier genes collectively determining phenotypic expression of the synaptopathy.
C1 [Chiliana, B.; Abdollahpour, H.; Bierhals, T.; Rosenberger, G.; Kutsche, K.] Univ Med Ctr Hamburg, Inst Human Genet, D-20246 Hamburg, Germany.
[Haltrich, I.; Fekete, G.] Semmelweis Univ Med Budapest, Dept Pediat 2, Budapest, Hungary.
[Nagel, I.] Univ Kiel, Inst Human Genet, Kiel, Germany.
[Nagel, I.] Univ Hosp Schleswig Holstein, Kiel, Germany.
RP Kutsche, K (reprint author), Univ Med Ctr Hamburg, Inst Human Genet, Martinistr 52, D-20246 Hamburg, Germany.
EM kkutsche@uke.de
FU Deutsche Forschungsgemeinschaft [KU 1240/5-1, RO 3660/1-1]
FX The authors are grateful to the child and his parents for their interest
and participation in this study. We thank Karin Ziegler and Dr. Sigrid
Fuchs for chromosome analysis and help with FISH experiments. The
results summarized here form part of the MD thesis of Bettina Chilian at
the University of Hamburg. This work was supported by grants of the
Deutsche Forschungsgemeinschaft (KU 1240/5-1 to K.K. and RO 3660/1-1 to
G.R.). [Correction added on 29 October 2013, after first online
publication: The correct grant information has been included.]
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NR 32
TC 8
Z9 8
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0009-9163
EI 1399-0004
J9 CLIN GENET
JI Clin. Genet.
PD DEC
PY 2013
VL 84
IS 6
BP 560
EP 565
DI 10.1111/cge.12105
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA 295BZ
UT WOS:000330092900007
PM 23350639
ER
PT J
AU Winarni, TI
Utaria, A
Mundhofir, FEP
Hagerman, RJ
Faradz, SMH
AF Winarni, T. I.
Utaria, A.
Mundhofir, F. E. P.
Hagerman, R. J.
Faradz, S. M. H.
TI Fragile X syndrome: clinical, cytogenetic and molecular screening among
autism spectrum disorder children in Indonesia
SO CLINICAL GENETICS
LA English
DT Article
DE autism spectrum disorders; FMR1 screening; fragile X site; fragile X
syndrome; Indonesia
ID RATING-SCALE CARS; CHILDHOOD AUTISM; YOUNG-CHILDREN; PREVALENCE; MALES;
POPULATION; EXPRESSION; PROFILES; PARADOX; SITES
AB Fragile X testing is a priority in the evaluation of autism spectrum disorders (ASD) cases because identification of the FMR1 mutation leads to new treatment options. This study is focused on determining the prevalence of the FMR1 gene mutation among ASD cases in Indonesia. DSM-IV-TR criteria were administered to diagnose ASD; symptom severity was classified using the Childhood Autism Rating Scale. Cytogenetic analysis, polymerase chain reaction, and Southern blot for FMR1 gene analysis were carried out to confirm the diagnosis of fragile X syndrome. The fragile X site and FMR1 full mutation allele were identified in 3 out of 65 (4.6%) and 4 out of 65 (6.15%) children aged 3-17years (57 boys and 8 girls), respectively. The Fragile X laboratory workup is essential in the evaluation of patients with ASD. Molecular analysis is most accurate, while cytogenetic documentation of the fragile X site can also be useful if molecular testing is not available.
C1 [Winarni, T. I.; Utaria, A.; Mundhofir, F. E. P.; Faradz, S. M. H.] Diponegoro Univ, Ctr Biomed Res, Div Human Genet, Semarang, Central Java, Indonesia.
[Utaria, A.] Diponegoro Univ, Fac Med, Natl Hosp, Dept Pediat, Semarang, Central Java, Indonesia.
[Hagerman, R. J.] Univ Calif Davis, Med Ctr, Med Invest Neurodev Disorders MIND, Sacramento, CA USA.
[Hagerman, R. J.] Univ Calif Davis, Med Ctr, Dept Pediat, Sacramento, CA USA.
RP Faradz, SMH (reprint author), Diponegoro Univ, Ctr Biomed Res, Div Human Genet, Semarang, Central Java, Indonesia.
EM sultana@indosat.net.id
FU Ministry of Health Republic Indonesia
FX This work was supported by Risbin IPTEKDOK grant from the Ministry of
Health Republic Indonesia in 2009-2010. We thank all of the patients and
their families who participated in this study. We thank Lusi Suwarsi,
Rita Indriati, and Wiwik Lestari from CEBIOR Faculty of Medicine
Diponegoro University for their help in laboratory processing.
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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 0009-9163
EI 1399-0004
J9 CLIN GENET
JI Clin. Genet.
PD DEC
PY 2013
VL 84
IS 6
BP 577
EP 580
DI 10.1111/cge.12095
PG 4
WC Genetics & Heredity
SC Genetics & Heredity
GA 295BZ
UT WOS:000330092900010
PM 23320543
ER
PT J
AU Rubin, DH
Althoff, RR
Ehli, EA
Davies, GE
Rettew, DC
Crehan, ET
Walkup, JT
Hudziak, JJ
AF Rubin, David H.
Althoff, Robert R.
Ehli, Erik A.
Davies, Gareth E.
Rettew, David C.
Crehan, Eileen T.
Walkup, John T.
Hudziak, James J.
TI Candidate gene associations with withdrawn behavior
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Withdrawn behavior; Child Behavior Checklist; Adult Self-Report;
behavioral inhibition; social withdrawal
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; SEROTONIN TRANSPORTER GENE;
FAMILY-BASED ASSOCIATION; SUPERIOR TEMPORAL GYRUS; 2A RECEPTOR GENE;
5-HT2A RECEPTOR; HIS452TYR POLYMORPHISM; PSYCHOTIC DISORDERS;
PERSONALITY-TRAITS; MAJOR DEPRESSION
AB BackgroundSocial withdrawal is a core neuropsychiatric phenomenon in developmental psychopathology. Its presence predicts psychopathology across many domains, including depression, psychosis, autism, anxiety, and suicide. Withdrawn behavior is highly heritable, persistent, and characteristically worsens without intervention. To date, few studies have successfully identified genetic associations with withdrawn behavior, despite the abundance of evidence of its heritability. This may be due to reliance of categorical over dimensional measures of the behaviorally inhibited phenotype. The aim of this study is to identify associations between known psychiatric candidate genes and a dimensionally derived measure of withdrawn behavior.
MethodsGenetic information was collected on 20 single-nucleotide polymorphisms (SNPs) from a custom-designed SNP chip and TAQMAN arrays of 4 variable number of tandem repeat (VNTR) genes for 551 individuals from 187 families. Linear mixed modeling was employed to examine the relationship between genotypes of interest and Child Behavior Checklist (CBCL) Withdrawn Behavior Subscale Score (WBS) while controlling for gender and age through multiple linear regressions.
ResultsWithdrawn behavior was highly associated with polymorphism of the serotonin receptor 2A (HTR2A) [p=.009, estimate=0.310 (bootstrap 95% CI 0.155-0.448), bootstrap p=.001] and of the alpha 2-adrenergic (ADRA2A) [p=.001, estimate=-0.310 (bootstrap 95% CI -0.479 to -0.126), bootstrap p=.001] genes after correction for gender and age. The association between withdrawn behavior and ADRA2A was stronger for younger children.
ConclusionsHTR2A and ADRA2A genes are associated with withdrawn behavior. This reinforces the role of catecholaminergic genes in the heritability of withdrawn behavior.
C1 [Rubin, David H.; Walkup, John T.] Weill Cornell Med Coll, New York, NY USA.
[Althoff, Robert R.; Rettew, David C.; Crehan, Eileen T.; Hudziak, James J.] Univ Vermont, Coll Med, Burlington, VT USA.
[Ehli, Erik A.; Davies, Gareth E.] Avera Inst Human Genet, Sioux Falls, SD USA.
RP Rubin, DH (reprint author), Weill Cornell Med Coll, 21 Bloomingdale Rd, White Plains, NY 10605 USA.
EM dhr2002@med.cornell.edu
FU National Institute of Mental Health [K08 MH082116, K20 MH001265]
FX This research was supported in part by National Institute of Mental
Health grants K08 MH082116 (R. Althoff, PI) and K20 MH001265 (J.
Hudziak, PI).
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NR 65
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 DEC
PY 2013
VL 54
IS 12
BP 1337
EP 1345
DI 10.1111/jcpp.12108
PG 9
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA 295FJ
UT WOS:000330101700009
PM 23808549
ER
PT J
AU Duku, E
Szatmari, P
Vaillancourt, T
Georgiades, S
Thompson, A
Liu, XQ
Paterson, AD
Bennett, T
AF Duku, Eric
Szatmari, Peter
Vaillancourt, Tracy
Georgiades, Stelios
Thompson, Ann
Liu, Xiao-Qing
Paterson, Andrew D.
Bennett, Terry
TI Measurement equivalence of the autism symptom phenotype in children and
youth
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Autism Diagnostic Interview-Revised; measurement equivalence; autism
spectrum disorder; confirmatory factor analysis; structural equation
modelling
ID CONFIRMATORY FACTOR-ANALYSIS; DIAGNOSTIC INTERVIEW; SPECTRUM DISORDERS;
MEASUREMENT INVARIANCE; FACTORIAL INVARIANCE; POPULATIONS; MODEL;
COVARIANCE; VALIDITY
AB BackgroundThe Autism Diagnostic Interview-Revised (ADI-R) is a gold standard assessment of Autism Spectrum Disorder (ASD) symptoms and behaviours. A key underlying assumption of studies using the ADI-R is that it measures the same phenotypic constructs across different populations (i.e. males/females, younger/older, verbal/nonverbal). The objectives of this study were to evaluate alternative measurement models for the autism symptom phenotype based on the ADI-R algorithm items and to examine the measurement equivalence of the most parsimonious and best fitting model across subgroups of interest.
MethodsData came from the Autism Genome Project consortium and consisted of 3,628 children aged 4-18years (84.2% boys and 75% verbal). Twenty-eight algorithm items applicable to both verbal and nonverbal participants were used in the analysis. Measurement equivalence of the autism phenotype was examined using categorical confirmatory factor analysis.
ResultsA second-order model resembling the proposed DSM-5 two-factor structure of the phenotype showed good overall fit, but not for all the subgroups. The autism symptom phenotype was best indexed by the first-order, six-factor measurement model proposed by Liu etal. (2011). This model was well fitting and measurement equivalent across subgroups of participants (age, verbal ability and sex).
ConclusionsThe autism symptom phenotype is adequately characterized by a six-factor measurement model; this model appears to be measurement equivalent across subgroups of children and youth with ASD that differ in age, sex and verbal ability. The two-factor model provides equally good fit for the sample as a whole, but comparison of these two dimensions between subgroups that might differ in terms of age, sex or verbal ability is challenged by lack of measurement equivalence.
C1 [Duku, Eric; Szatmari, Peter; Georgiades, Stelios; Thompson, Ann; Bennett, Terry] McMaster Univ, Offord Ctr Child Studies, Hamilton, ON, Canada.
[Duku, Eric; Szatmari, Peter; Georgiades, Stelios; Thompson, Ann; Bennett, Terry] McMaster Univ, Dept Psychiat & Behav Neurosci, Hamilton, ON, Canada.
[Vaillancourt, Tracy] Univ Ottawa, Fac Educ, Ottawa, ON, Canada.
[Vaillancourt, Tracy] Univ Ottawa, Sch Psychol, Ottawa, ON K1N 6N5, Canada.
[Liu, Xiao-Qing] Univ Manitoba, Dept Obstet Gynaecol & Reprod Sci, Winnipeg, MB, Canada.
[Paterson, Andrew D.] Hosp Sick Children, Toronto, ON M5G 1X8, Canada.
[Paterson, Andrew D.] Univ Toronto, Dalla Lana Sch Publ Hlth, Toronto, ON, Canada.
RP Szatmari, P (reprint author), Ctr Addict & Mental Hlth, 80 Workman Way, Toronto, ON M6J 1H4, Canada.
EM szatmar@mcmaster.ca
RI Vaillancourt, Tracy/F-8949-2015
FU Autism Speaks (USA); Health Research Board (Ireland); Genome Canada
(Canada); Medical Research Council (UK); Hilibrand Foundation (USA)
FX The members of the Autism Genome Project Consortium and its funding
Sources: Autism Speaks (USA); Health Research Board (Ireland); Genome
Canada (Canada); Medical Research Council (UK); the Hilibrand Foundation
(USA). The authors thank David Smith, David Trumpower and Brad Cousins
for their comments and feedback during the preparation of this
manuscript.
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NR 45
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 DEC
PY 2013
VL 54
IS 12
BP 1346
EP 1355
DI 10.1111/jcpp.12103
PG 10
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA 295FJ
UT WOS:000330101700010
PM 24033275
ER
PT J
AU Pettersson, E
Anckarsater, H
Gillberg, C
Lichtenstein, P
AF Pettersson, Erik
Anckarsater, Henrik
Gillberg, Christopher
Lichtenstein, Paul
TI Different neurodevelopmental symptoms have a common genetic etiology
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Neurodevelopmental problems; general factor; twin study; heritability;
factor analysis
ID DEFICIT HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS; ADOLESCENT
PSYCHOPATHOLOGY; TELEPHONE INTERVIEW; COMMUNITY TWIN; ADHD BEHAVIORS;
A-TAC; PREVALENCE; CHILDREN; COMORBIDITY
AB BackgroundAlthough neurodevelopmental disorders are demarcated as discrete entities in the Diagnostic Statistical Manual of mental disorders, empirical evidence indicates that there is a high degree of overlap among them. The first aim of this investigation was to explore if a single general factor could account for the large degree of observed overlap among neurodevelopmental problems, and explore whether this potential factor was primarily genetic or environmental in origin. The second aim was to explore whether there was systematic covariation, either genetic or environmental, over and above that contributed by the potential general factor, unique to each syndrome.
MethodParents of all Swedish 9- and 12-year-old twin pairs born between 1992 and 2002 were targeted for interview regarding problems typical of autism spectrum disorders, ADHD and other neurodevelopmental conditions (response rate: 80 percent). Structural equation modeling was conducted on 6,595 pairs to examine the genetic and environmental structure of 53 neurodevelopmental problems.
ResultsOne general genetic factor accounted for a large proportion of the phenotypic covariation among the 53 symptoms. Three specific genetic subfactors identified impulsivity,' learning problems,' and tics and autism,' respectively. Three unique environment factors identified autism,' hyperactivity and impulsivity,' and inattention and learning problems,' respectively.
ConclusionOne general genetic factor was responsible for the wide-spread phenotypic overlap among all neurodevelopmental symptoms, highlighting the importance of addressing broad patient needs rather than specific diagnoses. The unique genetic factors may help guide diagnostic nomenclature, whereas the unique environmental factors may highlight that neurodevelopmental symptoms are responsive to change at the individual level and may provide clues into different mechanisms and treatments. Future research would benefit from assessing the general factor separately from specific factors to better understand observed overlap among neurodevelopmental problems.
C1 [Pettersson, Erik; Lichtenstein, Paul] Karolinska Inst, S-17177 Stockholm, Sweden.
[Anckarsater, Henrik; Gillberg, Christopher] Univ Gothenburg, Gothenburg, Sweden.
RP Pettersson, E (reprint author), Karolinska Inst, Dept Med Epidemiol & Biostat, Box 281, S-17177 Stockholm, Sweden.
EM erik.pettersson@ki.se
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NR 42
TC 5
Z9 5
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 DEC
PY 2013
VL 54
IS 12
BP 1356
EP 1365
DI 10.1111/jcpp.12113
PG 10
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA 295FJ
UT WOS:000330101700011
PM 24127638
ER
PT J
AU Mullin, AP
Gokhale, A
Moreno-De-Luca, A
Sanyal, S
Waddington, JL
Faundez, V
AF Mullin, A. P.
Gokhale, A.
Moreno-De-Luca, A.
Sanyal, S.
Waddington, J. L.
Faundez, V.
TI Neurodevelopmental disorders: mechanisms and boundary definitions from
genomes, interactomes and proteomes
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Review
DE AP-3; autism spectrum disorder; BLOC-1; DTNBP1; dysbindin; schizophrenia
ID SUSCEPTIBILITY FACTOR DYSBINDIN; SCHIZOPHRENIA-RELATED PROTEIN;
ORGANELLES COMPLEX 1; RETT-SYNDROME; AP-3 COMPLEX; DEVELOPMENTAL
DISORDERS; PSYCHIATRIC-DISORDERS; HIPPOCAMPAL-FORMATION; ENDOSOMAL
TRANSPORT; SYNAPTIC VESICLES
AB Neurodevelopmental disorders such as intellectual disability, autism spectrum disorder and schizophrenia lack precise boundaries in their clinical definitions, epidemiology, genetics and protein-protein interactomes. This calls into question the appropriateness of current categorical disease concepts. Recently, there has been a rising tide to reformulate neurodevelopmental nosological entities from biology upward. To facilitate this developing trend, we propose that identification of unique proteomic signatures that can be strongly associated with patient's risk alleles and proteome-interactome-guided exploration of patient genomes could define biological mechanisms necessary to reformulate disorder definitions.
C1 [Mullin, A. P.; Gokhale, A.; Sanyal, S.; Faundez, V.] Emory Univ, Ctr Social Translat Neurosci, Sch Med, Dept Cell Biol, Atlanta, GA 30322 USA.
[Moreno-De-Luca, A.] Geisinger Hlth Syst, Genom Med Inst, Autism & Dev Med Inst, Danville, PA USA.
[Sanyal, S.] Biogen Idec Inc, Cambridge, MA USA.
[Waddington, J. L.] Royal Coll Surgeons Ireland, Dublin 2, Ireland.
[Faundez, V.] Emory Univ, Ctr Social Translat Neurosci, Atlanta, GA 30322 USA.
RP Faundez, V (reprint author), Emory Univ, Ctr Social Translat Neurosci, Sch Med, Dept Cell Biol, Atlanta, GA 30322 USA.
EM vfaunde@emory.edu
FU National Institutes of Health [GM077569, NS42599]; CHOA Children's
Center for Neuroscience; Science Foundation Ireland [07/IN.1/B960]
FX This work was supported by grants from the National Institutes of Health
(GM077569 and NS42599) and CHOA Children's Center for Neuroscience to
VF, and by Principal Investigator grant 07/IN.1/B960 from Science
Foundation Ireland to JLW.
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NR 83
TC 4
Z9 4
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 DEC
PY 2013
VL 3
AR e329
DI 10.1038/tp.2013.108
PG 6
WC Psychiatry
SC Psychiatry
GA 295PE
UT WOS:000330127200003
PM 24301647
ER
PT J
AU Sevilla, MSF
Bermudez, MOE
Sanchez, JJC
AF Fortea Sevilla, M. S.
Escandell Bermudez, M. O.
Castro Sanchez, J. J.
TI Estimated prevalence of autism spectrum disorders in the Canary Islands
SO ANALES DE PEDIATRIA
LA Spanish
DT Article
DE Autism spectrum disorders; Prevalence; Diagnosis; Early detection;
Spanish version of the Modified Checklist for Autism in Toddlers
ID PERVASIVE DEVELOPMENTAL DISORDERS; PRESCHOOL-CHILDREN; MODIFIED
CHECKLIST; INFANTILE-AUTISM; POPULATION; DIAGNOSIS; TODDLERS; JAPAN
AB Aims: To make an initial estimate of the prevalence of autism spectrum disorders (ASDs) among children in the province of Las Palmas (Spain).
Material and methods: Descriptive study was conducted on 1,796 children between the ages of 18 and 30 months of age, all part of the Child Health Surveillance of the Canary Islands, more specifically the province of Las Palmas, with a population of 1,090,605. The parents of children involved completed the Spanish version of the Modified Checklist for Autism in Toddlers (M-CHAT/ES) in the paediatric clinic. The positive cases were then diagnosed by experts by means of the Autism Diagnostic Interview-Revised (ADIR) and the Autism Diagnostic Observation Schedule (ADOS).
Results: A 0.61% prevalence of ASDs was determined, similar to that reported in previous studies using the same tools. The ratio was six girls for every five boys. This was contrary to the results of previous studies which suggested more boys than girls were affected. This may have been due to the sample size, which will have to be increased in future studies to confirm this outcome.
Conclusions: An increased sample size and also spread to other age ranges should be used in order to obtain a more reliable estimate of prevalence. As regards the gender ratio, this could be a result of the small size of the sample researched, and should therefore be confirmed by further studies. (C) 2012 Asociacion Espanola de Pediatria. Published by Elsevier Espana, S.L. All rights reserved.
C1 [Fortea Sevilla, M. S.; Escandell Bermudez, M. O.; Castro Sanchez, J. J.] Univ Las Palmas Gran Canaria, Las Palmas Gran Canaria, Spain.
RP Bermudez, MOE (reprint author), Univ Las Palmas Gran Canaria, Las Palmas Gran Canaria, Spain.
EM mescandell@dps.ulpgc.es
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NR 40
TC 1
Z9 1
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 DEC
PY 2013
VL 79
IS 6
BP 352
EP 359
DI 10.1016/j.anpedi.2013.04.022
PG 8
WC Pediatrics
SC Pediatrics
GA 293CT
UT WOS:000329949700003
ER
PT J
AU Verhoeff, B
AF Verhoeff, Berend
TI Autism in flux: a history of the concept from Leo Kanner to DSM-5
SO HISTORY OF PSYCHIATRY
LA English
DT Article
DE Autism; concept; history; positivism; variability
ID EARLY INFANTILE-AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM
DISORDERS; CHILDHOOD SCHIZOPHRENIA; ASPERGERS-DISORDER; III-R; CHILDREN;
CLASSIFICATION; EPIDEMIOLOGY; IMPAIRMENTS
AB In this paper, I argue that a new relation between past and present - a supposed historical continuity in the meaning of autism - is created by the histories written by the discipline itself. In histories of autism written by practitioner-historians', a sense of scientific progress and an essentialist understanding of autism legitimize and reinforce current understandings and research directions in the field of autism. Conceptual discontinuities and earlier complexities and disputes concerning classifying and delineating autism are usually left out of the positivist narrative of autism. In an alternative history of the concept of autism, I demonstrate that there have been major shifts in the type of symptoms, signs and impairments that were - and are - thought to be essential and specific for autism.
C1 Univ Groningen, NL-9712 TS Groningen, Netherlands.
RP Verhoeff, B (reprint author), Univ Groningen, Grote Kruisstr 2-1, NL-9712 TS Groningen, Netherlands.
EM berendverhoeff@gmail.com
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NR 77
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0957-154X
EI 1740-2360
J9 HIST PSYCHIATR
JI Hist. Psychiatr.
PD DEC
PY 2013
VL 24
IS 4
BP 442
EP 458
DI 10.1177/0957154X13500584
PG 17
WC History Of Social Sciences; Psychiatry
SC Social Sciences - Other Topics; Psychiatry
GA 292BC
UT WOS:000329875700005
PM 24573754
ER
PT J
AU Goff, BSN
Springer, N
Foote, LC
Frantz, C
Peak, M
Tracy, C
Veh, T
Bentley, GE
Cross, KA
AF Goff, Briana S. Nelson
Springer, Nicole
Foote, Laura Cline
Frantz, Courtney
Peak, Madison
Tracy, Courtney
Veh, Taylor
Bentley, Gail E.
Cross, Kayli A.
TI Receiving the Initial Down Syndrome Diagnosis: A Comparison of Prenatal
and Postnatal Parent Group Experiences
SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Down syndrome; parenting; prenatal diagnosis; postnatal diagnosis;
qualitative research
ID CHILDREN; FAMILIES; DISABILITIES; RESILIENCE; AUTISM
AB This study explored the preliminary experiences of parents upon learning of their child's diagnosis of Down syndrome. Qualitative data from a web-based, national survey were analyzed based on two groups: prenatal (n = 6) or postnatal (n = 115) diagnosis. Three primary categories emerged from the data analysis: prenatal screening/testing decisions by parents, the adjustment process for parents, and postdiagnosis resources and support for parents. Participants' rationale behind pursuing testing ranged from wanting to be better prepared to not pursuing testing because it was not a factor in continuing the pregnancy. Participant reactions to the diagnosis involved a range of intense preliminary emotions; participants described their extreme grief and loss experience at the initial news of the diagnosis, which also was ambiguous in nature and required differing timelines of adjustment. Finally, participants described experiences with medical professionals, information/education, and faith/religion as resources and areas of support, although not all were described as positive in nature. Participants in both groups identified having negative experiences with medical professionals during the diagnosis process. The results indicated the importance of these early experiences for parents of children with Down syndrome and emphasize providing effective education, resources, and practical information from reliable sources.
C1 [Goff, Briana S. Nelson] Kansas State Univ, Sch Family Studies & Human Serv, Manhattan, KS 66506 USA.
[Springer, Nicole; Bentley, Gail E.; Cross, Kayli A.] Texas Tech Univ, Lubbock, TX 79409 USA.
[Foote, Laura Cline; Frantz, Courtney; Peak, Madison; Tracy, Courtney; Veh, Taylor] Kansas State Univ, Manhattan, KS 66506 USA.
RP Goff, BSN (reprint author), Kansas State Univ, Sch Family Studies & Human Serv, 343K Justin Hall, Manhattan, KS 66506 USA.
EM bnelson@k-state.edu
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NR 25
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1934-9491
EI 1934-9556
J9 INTELLECT DEV DISAB
JI Intellect. Dev. Disabil.
PD DEC
PY 2013
VL 51
IS 6
BP 446
EP 457
DI 10.1352/1934-9556-51.6.446
PG 12
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 295KO
UT WOS:000330115200002
ER
PT J
AU Kana, RK
Liu, YN
Williams, DL
Keller, TA
Schipul, SE
Minshew, NJ
Just, MA
AF Kana, Rajesh K.
Liu, Yanni
Williams, Diane L.
Keller, Timothy A.
Schipul, Sarah E.
Minshew, Nancy J.
Just, Marcel Adam
TI The local, global, and neural aspects of visuospatial processing in
autism spectrum disorders
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Autism; fMRI; Global-local processing; Block design task
ID HIGH-FUNCTIONING AUTISM; ROSTRAL PREFRONTAL CORTEX; EMBEDDED FIGURES
TASK; PERVASIVE DEVELOPMENTAL DISORDERS; VISUAL-SEARCH; BLOCK DESIGN;
ASPERGER-SYNDROME; ENHANCED DISCRIMINATION; SENTENCE COMPREHENSION;
ORIENTED PERCEPTION
AB Behavioral studies have documented a relative advantage in some aspects of visuospatial cognition in autism although it is not consistently found in higher functioning individuals with autism. The purpose of this functional neuroimaging study was to examine the neural activity in high functioning individuals with autism while they performed a block design task that systematically varied with regard to whether a global pattern was present. Participants were 14 adults with high-functioning autism and 14 age and IQ matched typical controls. The task was to identify a missing block in target figures which had either an obvious global shape or was an arbitrary array of blocks. Behavioral results showed intact, but not superior, performance in our participants with autism. A key group difference was that the participants with autism showed reliably greater activation in occipital and parietal regions in both tasks suggesting an increased reliance of the autism group on posterior brain areas to mediate visuospatial tasks. Thus, increased reliance on relatively posterior brain regions in itself may not guarantee superior performance as seen in the present study. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Kana, Rajesh K.] Univ Alabama Birmingham, Dept Psychol, Civitan Int Res Ctr CIRC 235G, Birmingham, AL 35294 USA.
[Liu, Yanni; Keller, Timothy A.; Schipul, Sarah E.; Just, Marcel Adam] Carnegie Mellon Univ, Dept Psychol, Pittsburgh, PA 15213 USA.
[Williams, Diane L.] Duquesne Univ, Dept Speech Language Pathol, Pittsburgh, PA 15219 USA.
[Minshew, Nancy J.] Univ Pittsburgh, Dept Psychiat, Pittsburgh, PA USA.
RP Kana, RK (reprint author), Univ Alabama Birmingham, Dept Psychol, Civitan Int Res Ctr CIRC 235G, 1719 6th Ave South, Birmingham, AL 35294 USA.
EM rkana@uab.edu
FU National Institute of Child Health and Human Development [HD35469]; Cure
Autism Now Foundation
FX This research was supported by the Collaborative Program of Excellence
in Autism Grant HD35469 from the National Institute of Child Health and
Human Development, and a postdoctoral training grant from the Cure
Autism Now Foundation.
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NR 81
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3932
EI 1873-3514
J9 NEUROPSYCHOLOGIA
JI Neuropsychologia
PD DEC
PY 2013
VL 51
IS 14
BP 2995
EP 3003
DI 10.1016/j.neuropsychologia.2013.10.013
PG 9
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA 295AH
UT WOS:000330088500005
PM 24184351
ER
PT J
AU de Boer-Schellekens, L
Keetels, M
Eussen, M
Vroomen, J
AF de Boer-Schellekens, Liselotte
Keetels, Mirjam
Eussen, Mart
Vroomen, Jean
TI No evidence for impaired multisensory integration of low-level
audiovisual stimuli in adolescents and young adults with autism spectrum
disorders
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Autism spectrum disorders; Multisensory integration; Temporal
ventriloquism; Visual temporal order; Visual search; Visual orienting
ID HIGH-FUNCTIONING AUTISM; TEMPORAL VENTRILOQUISM; SPEECH INTEGRATION;
VISUAL-SEARCH; DEVELOPMENTAL DYSLEXIA; SHIFTING ATTENTION; CHILDREN;
VISION; FACILITATION; PERCEPTION
AB Abrupt click sounds can improve the visual processing of flashes in several ways. Here, we examined this in high functioning adolescents with Autism Spectrum Disorders (ASD) using three tasks: (1) a task where clicks improve sensitivity for visual temporal order (temporal ventriloquism); (2) a task where a click improves visual search (pip-and-pop), and (3) a task where a click speeds up the visual orienting to a peripheral target (clock reading). Adolescents with ASD were, compared to adolescents with typical development (TD), impaired in judgments of visual temporal order, but they were unimpaired in visual search and orienting. Importantly, in all tasks visual performance of the ASD group improved by the presence of clicks by at least equal amounts as in the TD group. This suggests that adolescents and young adults with ASD show no generalized deficit in the multisensory integration of low-level audiovisual stimuli and/or the phasic alerting by abrupt sounds. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [de Boer-Schellekens, Liselotte; Keetels, Mirjam; Vroomen, Jean] Tilburg Univ, Dept Cognit Neuropsychol, NL-5000 LE Tilburg, Netherlands.
[Eussen, Mart] Yulius Acad, NL-3014 RH Rotterdam, Netherlands.
RP Vroomen, J (reprint author), Tilburg Univ, Dept Cognit Neuropsychol, POB 90153, NL-5000 LE Tilburg, Netherlands.
EM l.w.z.deboer@uvt.nl; m.n.keetels@uvt.nl; M.Eussen@yulius.nl;
J.Vroomen@uvt.nl
RI Vroomen, Jean/K-1033-2013
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NR 62
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3932
EI 1873-3514
J9 NEUROPSYCHOLOGIA
JI Neuropsychologia
PD DEC
PY 2013
VL 51
IS 14
BP 3004
EP 3013
DI 10.1016/j.neuropsychologia.2013.10.005
PG 10
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA 295AH
UT WOS:000330088500006
PM 24157536
ER
PT J
AU Ahilaven, P
Shaik, M
Veeresh, B
AF Ahilaven, Padma
Shaik, Mallika
Veeresh, B.
TI Withania Somnifera Ameliorates Behavioral Alterations and Oxidative
Markers in Sodium Valproate Induced Autism in Balb/C Mice
SO INDIAN JOURNAL OF PHARMACOLOGY
LA English
DT Meeting Abstract
C1 [Ahilaven, Padma; Shaik, Mallika; Veeresh, B.] G Pulla Reddy Coll Pharm Mehdipatnam, Dept Pharmacol, Hyderabad, Andhra Pradesh, India.
NR 0
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 0253-7613
EI 1998-3751
J9 INDIAN J PHARMACOL
JI Indian J. Pharmacol.
PD DEC
PY 2013
VL 45
SU 1
BP S28
EP S28
PG 1
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA 286VJ
UT WOS:000329496700088
ER
PT J
AU Behara, YR
Satti, T
Veeresh, B
AF Behara, Yerram Raju
Satti, Tejaswini
Veeresh, B.
TI Piper Methysticum Ameliorates Behavioral Alterations and Oxidative
Markers in Sodium Valprate Induced Autism in Balb/C Mice
SO INDIAN JOURNAL OF PHARMACOLOGY
LA English
DT Meeting Abstract
C1 [Behara, Yerram Raju; Satti, Tejaswini; Veeresh, B.] G Pulla Reddy Coll Pharm Mehdipatnam, Dept Pharmacol, Hyderabad, Andhra Pradesh, India.
NR 0
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 0253-7613
EI 1998-3751
J9 INDIAN J PHARMACOL
JI Indian J. Pharmacol.
PD DEC
PY 2013
VL 45
SU 1
BP S30
EP S30
PG 1
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA 286VJ
UT WOS:000329496700094
ER
PT J
AU Libertus, K
Landa, RJ
AF Libertus, Klaus
Landa, Rebecca J.
TI The Early Motor Questionnaire (EMQ): A parental report measure of early
motor development
SO INFANT BEHAVIOR & DEVELOPMENT
LA English
DT Article
DE Motor development; Parent report; Questionnaire; Autism
ID AUTISM SPECTRUM DISORDERS; DEVELOPMENT INVENTORY; LANGUAGE-DEVELOPMENT;
INFANT DEVELOPMENT; YOUNG-CHILDREN; RISK INFANTS; VALIDITY; RELIABILITY;
VALIDATION; EMBODIMENT
AB Children's early motor skills are critical for development across language, social, and cognitive domains, and warrant close examination. However, examiner-administered motor assessments are time consuming and expensive. Parent-report questionnaires offer an efficient alternative, but validity of parent report is unclear and only few motor questionnaires exist. In this report, we use cross-sectional and longitudinal data to investigate the validity of parent report in comparison to two examiner-administered measures (Mullen Scales of Early Learning, MSEL; Peabody Developmental Motor Scales, PDMS-2), and introduce a new parent-report measure called the Early Motor Questionnaire (EMQ). Results indicate strong correlations between parent report on the EMQ and a child's age, robust concurrent and predictive validity of parent report with both the MSEL and PDMS-2, and good test-retest reliability of parent report on the EMQ. Together, our findings support the conclusion that parents provide dependable accounts of early motor and cognitive development. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Libertus, Klaus; Landa, Rebecca J.] Johns Hopkins Sch Med, Baltimore, MD USA.
[Libertus, Klaus; Landa, Rebecca J.] Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD 21211 USA.
RP Libertus, K (reprint author), Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD 21211 USA.
EM klaus.libertus@gmail.com
CR Adolph KE, 2008, PSYCHOL REV, V115, P527, DOI 10.1037/0033-295X.115.3.527
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NR 53
TC 2
Z9 2
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0163-6383
EI 1879-0453
J9 INFANT BEHAV DEV
JI Infant Behav. Dev.
PD DEC
PY 2013
VL 36
IS 4
BP 833
EP 842
DI 10.1016/j.infbeh.2013.09.007
PG 10
WC Psychology, Developmental
SC Psychology
GA 287OF
UT WOS:000329551400039
PM 24140841
ER
PT J
AU Amiet, C
Gourfinkel-An, I
Laurent, C
Bodeau, N
Genin, B
Leguern, E
Tordjman, S
Cohen, D
AF Amiet, Claire
Gourfinkel-An, Isabelle
Laurent, Claudine
Bodeau, Nicolas
Genin, Berengere
Leguern, Eric
Tordjman, Sylvie
Cohen, David
TI Does epilepsy in multiplex autism pedigrees define a different subgroup
in terms of clinical characteristics and genetic risk?
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism; Multiplex pedigree; Epilepsy; Intellectual disability
ID PERVASIVE DEVELOPMENTAL DISORDERS; 3Q29 MICRODELETION SYNDROME;
FRONTAL-LOBE EPILEPSY; DE-NOVO MUTATIONS; IDIOPATHIC GENERALIZED
EPILEPSY; SCAFFOLDING PROTEIN SHANK3; LINKED MENTAL-RETARDATION; SEVERE
MYOCLONIC EPILEPSY; POTASSIUM CHANNEL GENE; COPY NUMBER VARIANTS
AB Background: Autism spectrum disorders (ASD) and epilepsy frequently occur together. Prevalence rates are variable, and have been attributed to age, gender, comorbidity, subtype of pervasive developmental disorder (PDD) and risk factors. Recent studies have suggested disparate clinical and genetic settings depending on simplex or multiplex autism. The aim of this study was to assess: 1) the prevalence of epilepsy in multiplex autism and its association with genetic and non-genetic risk factors of major effect, intellectual disability and gender; and 2) whether autism and epilepsy cosegregate within multiplex autism families.
Methods: We extracted from the Autism Genetic Resource Exchange (AGRE) database (n = 3,818 children from 1,264 families) all families with relevant medical data (n = 664 children from 290 families). The sample included 478 children with ASD and 186 siblings without ASD. We analyzed the following variables: seizures, genetic and non-genetic risk factors, gender, and cognitive functioning as assessed by Raven's Colored Progressive Matrices (RCPM) and Vineland Adaptive Behavior Scales (VABS).
Results: The prevalence of epilepsy was 12.8% in cases with ASD and 2.2% in siblings without ASD (P < 10(-5)). With each RCPM or VABS measure, the risk of epilepsy in multiplex autism was significantly associated with intellectual disability, but not with gender. Identified risk factors (genetic or non-genetic) of autism tended to be significantly associated with epilepsy (P = 0.052). When children with prematurity, pre-or perinatal insult, or cerebral palsy were excluded, a genetic risk factor was reported for 6/59 (10.2%) of children with epilepsy and 12/395 (3.0%) of children without epilepsy (P = 0.002). Finally, using a permutation test, there was significant evidence that the epilepsy phenotype co-segregated within families (P < 10(-4)).
Conclusions: Epilepsy in multiplex autism may define a different subgroup in terms of clinical characteristics and genetic risk.
C1 [Amiet, Claire; Laurent, Claudine; Bodeau, Nicolas; Cohen, David] Univ Paris 06, AP HP, Grp Hosp Pitie Salpetriere, Dept Child & Adolescent Psychiat, F-75013 Paris, France.
[Amiet, Claire; Genin, Berengere] IntegraGen, F-91000 Evry, France.
[Gourfinkel-An, Isabelle; Leguern, Eric] Grp Hosp Pitie Salpetriere, AP HP, Reference Ctr Rare Epilepsies, Ctr Epileptol, F-75013 Paris, France.
[Gourfinkel-An, Isabelle; Leguern, Eric] Univ Paris 06, AP HP, Grp Hosp Pitie Salpetriere, Dept Genet, F-75013 Paris, France.
[Laurent, Claudine] Univ Paris 06, INSERM, CR ICM,Grp Hosp Pitie Salpetriere, UMR S975,CNRS,UMR 7225,Dept Biotechnol & Biothera, F-75013 Paris, France.
[Tordjman, Sylvie] Univ Rennes, Grp Hosp Guillaume Regnier, Dept Child & Adolescent Psychiat, F-35703 Rennes, France.
[Cohen, David] Univ Paris 06, CNRS, ISIR, UMR 7222, F-75005 Paris, France.
RP Cohen, D (reprint author), Univ Paris 06, AP HP, Grp Hosp Pitie Salpetriere, Dept Child & Adolescent Psychiat, 47 Bd Hop, F-75013 Paris, France.
EM david.cohen@psl.aphp.fr
FU National Institute of Mental Health [1U24MH081810]; Orange Foundation
FX We gratefully acknowledge the resources provided by the AGRE Consortium
and the participating AGRE families. The AGRE is a program of Autism
Speaks and is supported, in part, by grant 1U24MH081810 from the
National Institute of Mental Health to Clara M Lajonchere (principal
investigator). This work was supported by the Orange Foundation.
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NR 155
TC 3
Z9 3
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 DEC 1
PY 2013
VL 4
AR 47
DI 10.1186/2040-2392-4-47
PG 16
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA 291OE
UT WOS:000329837200001
PM 24289166
ER
PT J
AU Simpson, K
Keen, D
Lamb, J
AF Simpson, Kate
Keen, Deb
Lamb, Janeen
TI The use of music to engage children with autism in a receptive labelling
task
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Engagement; Music; Autism; Language learning; Intervention
ID INFANT-DIRECTED SPEECH; SPECTRUM DISORDERS; WORD RECOGNITION; MATERNAL
SPEECH; MOTHERS SPEECH; RESPONSIVENESS; PREFERENCES; LULLABIES; THERAPY;
DETERMINANTS
AB Children with autism are less engaged with social and non-social objects and activities than their typically developing peers, resulting in reduced learning opportunities. There is some support for the use of music to enhance the engagement of children with autism but there has been little research investigating the use of music to engage children in language learning tasks and determining if this impacts on learning outcomes. This study investigated the use of music to engage children with autism in a receptive labelling intervention. Twenty two children (mean age 5.9 yrs) participated in a randomised controlled cross-over design comparing sung and spoken conditions embedded into a computer based intervention. Child performance and observational data were analysed to determine relationships between music, engagement and learning outcomes. The findings from this research showed children with autism were more engaged in the sung condition compared to the spoken condition although there was considerable variability in levels of engagement between participants. Furthermore, a correlation between engagement and learning was found. Implications of these findings are discussed and recommendations made for future research. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Simpson, Kate; Lamb, Janeen] Australian Catholic Univ, Virginia, Qld 4014, Australia.
[Keen, Deb] Griffith Univ, Mt Gravatt, Qld 4122, Australia.
RP Keen, D (reprint author), Griffith Univ, 176 Messines Ridge Rd, Mt Gravatt, Qld 4122, Australia.
EM kmsimp001@myacu.edu.au; d.keen@griffith.edu.au; Janeen.Lamb@acu.edu.au
CR [Anonymous], 2009, NAT STAND PROJ ADDR
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NR 61
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 DEC
PY 2013
VL 7
IS 12
BP 1489
EP 1496
DI 10.1016/j.rasd.2013.08.013
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500001
ER
PT J
AU Strahan, BE
Elder, JH
AF Strahan, Brandy E.
Elder, Jennifer H.
TI Obesity in adolescents with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Review
DE Autism; Adolescents; Obesity; Physical activity; Intervention; Weight
loss
ID RANDOMIZED CONTROLLED-TRIAL; OVERWEIGHT; CHILDREN; PROGRAM;
INTERVENTIONS; BOYS
AB Adolescents with developmental disabilities such as autism spectrum disorder (ASD) may be particularly vulnerable to obesity due to the behavioral, physical, and psychosocial complications related to their condition. This article provides a general background related to obesity in adolescence with specific emphasis on obesity in the ASD population. A search of Pub Med, CINAHL, and Pro Quest databases revealed several studies which demonstrated that interventions involving physical activity with typically developing, obese adolescents can have positive effects on body mass index, weight, and body composition. However, these findings also suggest that more research is needed to help tailor these interventions to meet the needs of similar adolescents with ASD. To clarify these needs, we present a case study that illustrates the special challenges of treating an obese adolescent with ASD and then offer suggestions for future research. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Strahan, Brandy E.; Elder, Jennifer H.] Univ Florida, Gainesville, FL 32611 USA.
[Strahan, Brandy E.] Univ W Florida, Pensacola, FL 32514 USA.
RP Strahan, BE (reprint author), 11000 Univ Pkwy,Bldg 37, Pensacola, FL 32514 USA.
EM bstrahan@uwf.edu
CR [Anonymous], 2012, TEENS AUTISM PREOCCU
Black MM, 2010, PEDIATRICS, V126, P280, DOI 10.1542/peds.2009-1832
Centers for Disease Control and Prevention, BASICS CHILDH OB
Chen AY, 2010, OBESITY, V18, P210, DOI 10.1038/oby.2009.185
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Lubans D., 2012, ARCH PEDIAT ADOLESCE
Lubans DR, 2011, PREV MED, V52, P239, DOI 10.1016/j.ypmed.2011.01.009
Maddison R., 2011, AM J CLIN NUTR, V94, P153
National Center for Health Statistics, 2010, PREV OB CHILDR AD US
Neumark-Sztainer DR, 2010, AM J PREV MED, V39, P421, DOI 10.1016/j.amepre.2010.07.017
Nguyen B, 2012, ARCH PEDIAT ADOL MED, V166, P170, DOI 10.1001/archpediatrics.2011.841
Peralta LR, 2009, PREV MED, V48, P537, DOI 10.1016/j.ypmed.2009.04.007
Persico AM, 2013, BEHAV BRAIN RES, V251, P95, DOI 10.1016/j.bbr.2013.06.012
Rimmer JH, 2010, J INTELL DISABIL RES, V54, P787, DOI 10.1111/j.1365-2788.2010.01305.x
Rodgers A., 2010, AM J CLIN NUTR, V94, P156
Sinha A, 2009, OBES SURG, V19, P113, DOI 10.1007/s11695-008-9650-4
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U.S. Department of Health and Human Services, LOOK AH ACT HLTH DIA
Xiong NN, 2009, RES DEV DISABIL, V30, P70, DOI 10.1016/j.ridd.2007.11.001
NR 24
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 DEC
PY 2013
VL 7
IS 12
BP 1497
EP 1500
DI 10.1016/j.rasd.2013.09.011
PG 4
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500002
ER
PT J
AU Tsai, WC
Soong, WT
Chie, WC
AF Tsai, Wen-Che
Soong, Wei-Tsuen
Chie, Wei-Chu
TI Changes in clinical presentation of children with autistic disorder, at
an autism clinic in Taiwan from 1987 to 1995
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autistic disorder; Child mental health; Taiwan
ID PERVASIVE DEVELOPMENTAL DISORDERS; DSM-5 DIAGNOSTIC-CRITERIA;
RATING-SCALE CARS; CHILDHOOD AUTISM; SPECTRUM DISORDERS; YOUNG-CHILDREN;
IV; CLASSIFICATION; INTERVENTIONS; EPIDEMIOLOGY
AB Autistic disorder was originally viewed as a distinct, rare, and severe childhood mental disorder that caused life-long disability. However, since the late 1990s autistic disorder was found to have a high prevalence rate and to affect children on a spectrum from mild to severe dysfunction. The purpose of this retrospective, descriptive study was to examine changes in the characteristics of patients with autistic disorder in Taiwan from 1987 to 1995. To that end, we examined the characteristics, age at diagnosis, symptoms, and developmental condition of affected children and the educational background of their parents who visited an autism clinic at the children's mental health center of a medical center in Taipei. This clinic was the first, largest, and for many years the only autistic disorder clinic in Taiwan. Across the 9-year study period, we observed trends in decreasing age at first visit, increasing age at assessment, rising maternal educational level, lessening autistic disorder symptomatology, and increasing developmental quotients. These changes may have been due to improved diagnostic criteria, government policy, and healthcare professionals' and parents' increased awareness of autistic disorder. Clinical implications and related policy making toward these changes are proposed. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Tsai, Wen-Che] Natl Taiwan Univ Hosp, Dept Psychiat, Taipei 10002, Taiwan.
[Soong, Wei-Tsuen] Natl Taiwan Univ, Dept Psychiat, St Josephs Hosp, Taipei 10764, Taiwan.
[Soong, Wei-Tsuen] Natl Taiwan Univ, Dept Psychiat, Taipei 10764, Taiwan.
[Soong, Wei-Tsuen] Natl Taiwan Univ Hosp, Taipei 10002, Taiwan.
[Chie, Wei-Chu] Natl Taiwan Univ, Inst Epidemiol & Prevent Med, Coll Publ Hlth, Taipei 10764, Taiwan.
[Chie, Wei-Chu] Natl Taiwan Univ, Dept Publ Hlth, Coll Publ Hlth, Taipei 10764, Taiwan.
RP Tsai, WC (reprint author), Natl Taiwan Univ Hosp, Dept Psychiat, 7 Chung Shan South Rd, Taipei 10002, Taiwan.
EM tsaiwenc@ntu.edu.tw; soongwei@ntu.edu.tw; weichu@ntu.edu.tw
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American Psychiatric Association, 1980, DIAGN STAT MAN MENT
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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 DEC
PY 2013
VL 7
IS 12
BP 1501
EP 1508
DI 10.1016/j.rasd.2013.09.014
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500003
ER
PT J
AU Tarbox, J
Najdowski, AC
Bergstrom, R
Wilke, A
Bishop, M
Kenzer, A
Dixon, D
AF Tarbox, Jonathan
Najdowski, Adel C.
Bergstrom, Ryan
Wilke, Arthur
Bishop, Michele
Kenzer, Amy
Dixon, Dennis
TI Randomized evaluation of a web-based tool for designing function-based
behavioral intervention plans
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Behavior intervention plans; Function-based; Evidence-based; Least
intrusive; Web-based
ID DISABILITIES; SUPPORT
AB Challenging behaviors are prevalent in children with autism and can have a negative impact on a variety of child outcomes. The creation of good-quality behavior intervention plans is critical to decreasing challenging behaviors but little previous research has developed or evaluated practical tools for designing intervention plans. This study consisted of a randomized evaluation of a web-based tool designed to aid clinicians in choosing treatment procedures for inclusion in behavior intervention plans. The effects of the tool were assessed on the inclusion of three types of intervention components that likely contribute to the quality of intervention plans: (I) function-based intervention components, (2) evidence-based intervention components, and (3) non-punishment-based intervention components. Use of the web-based behavior intervention plan builder produced a statistically significant increase in the inclusion of function-based intervention components but no statistically significant effect was observed on the other two measures. Results are discussed in terms of the implications for improving the quality of behavior intervention plans, as well as the dissemination of knowledge of best practices in behavioral intervention. (C) 2013 Elsevier Ltd. All rights reserved.
EM j.tarbox@centerforautism.com
CR Allen D., 1989, MENT HANDICAP RES, V2, P18
Baker DJ, 1998, J ASSOC PERS SEVERE, V23, P144, DOI 10.2511/rpsd.23.2.144
Browning-Wright D., 2007, ED TREATMENT CHILDRE, V30, P89
Cook C. R., 2007, J BEHAV ED, V16, P191, DOI DOI 10.1007/S10864-006-9024-8
Dunlap G., 1993, BEHAVIORAL DISORDERS, V18, P275
Emerson E., 1994, SEVERE LEARNING DISA
Etscheidt S., 2006, BEHAVIORAL DISORDERS, V31, P89
Felce D., 1993, J INTELL DISABIL RES, V37, P13
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O'Neill R. E., 1997, FUNCTIONAL ASSESSMEN, V2nd
Sugai G, 2000, EXCEPTIONALITY, V8, P149
Umbreit J, 1995, BEHAV DISORDERS, V20, P267
NR 20
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 DEC
PY 2013
VL 7
IS 12
BP 1509
EP 1517
DI 10.1016/j.rasd.2013.08.005
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500004
ER
PT J
AU Chung, KM
Park, S
AF Chung, Kyung-Mee
Park, Suna
TI Validity and reliability of the Korean Version of Autism Spectrum
Disorders-Diagnostic for Children (ASD-DC)
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Screening; Standardization; Autism;
Asperger's disorder; PDD-NOS
ID PERVASIVE DEVELOPMENTAL DISORDERS; CONFIRMATORY FACTOR-ANALYSIS;
CHILDHOOD AUTISM; RATING-SCALE; FEEDING QUESTIONNAIRE; ADI-R; BEHAVIOR;
PREVALENCE; CLASSIFICATION; EPIDEMIOLOGY
AB The purpose of the present study was to develop and evaluate the psychometric properties of the Autism Spectrum Disorders-Child (ASD-DC). Mothers of children with Autism spectrum disorders (N = 333) and mothers of typically developing children (N = 223) ages from 2 to 16 years completed the ASD-DC. The confirmatory factor analysis revealed that the 4-factor structure of the ASD-DC fits the data well, comprising the following factors: nonverbal communication/socialization, verbal communication, social relationships, and insistence of sameness/restricted interests. The ASD-DC was associated with high internal consistency and test-retest reliability. The discriminant validity was demonstrated by the mean differences between ASD and control group. High correlations between several subscales of ASD-DC and Social Communication Questionnaire (SCQ) were found, showing concurrent validity. High correlations between several subscales were found. Optimal cutoff scores for Autism, Asperger's disorder, and PDD-NOS were found via ROC curve analysis. Clinical and research implications as well as limitations are discussed. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Chung, Kyung-Mee; Park, Suna] Yonsei Univ, Dept Psychol, Seoul 120749, South Korea.
RP Park, S (reprint author), Yonsei Univ, Dept Psychol, Seoul 120749, South Korea.
EM suna_joy@naver.com
CR AM. PSYCHIATRIC ASS'N, 1980, DIAGNOSTIC AND STATI, V3d, P247
American Psychiatric Association, 2000, DIAGNOSTIC AND STATI
American Psychiatric Association, 2013, DIAGNOSTIC AND STATI
Avchen RN, 2011, J AUTISM DEV DISORD, V41, P227, DOI 10.1007/s10803-010-1050-7
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NR 77
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 DEC
PY 2013
VL 7
IS 12
BP 1518
EP 1527
DI 10.1016/j.rasd.2013.09.007
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500005
ER
PT J
AU Cervantes, P
Matson, JL
Tureck, K
Adams, HL
AF Cervantes, Paige
Matson, Johnny L.
Tureck, Kim
Adams, Hilary L.
TI The relationship of comorbid anxiety symptom severity and challenging
behaviors in infants and toddlers with autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE ASD; Anxiety; Challenging behaviors; Baby and Infant Screen for Children
with aUtIsm Traits (BISCUIT)
ID DSM-5 DIAGNOSTIC-CRITERIA; PSYCHIATRIC-DISORDERS; TRAITS BISCUIT;
CHILDREN; COMMUNICATION; PSYCHOPATHOLOGY; RELIABILITY; PREVALENCE;
EPILEPSY; SAMPLE
AB The rates of comorbid anxiety as well as the presentation of challenging behaviors are elevated within the autism spectrum disorder (ASD) population. The current study utilizes the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT) to explore the relationship of anxiety/repetitive behavior symptom severity and challenging behaviors in infants and toddlers with ASD. Children with ASD who evinced more severe impairment associated with anxiety/repetitive behavior (n = 94) demonstrated higher rates of overall challenging behaviors than those with ASD who evinced no to minimal anxiety impairment (n = 291). Specifically, a comparison of individual challenging behavior items indicated that the infants and toddlers with moderate to severe anxiety impairment exhibited more significant challenging behaviors under the domains of aggression/destruction, stereotypies, and self-injurious behavior than children with no to minimal impairment. This study adds to the literature evidencing an exacerbation of challenging behaviors by comorbid psychopathology in individuals with ASD. Clinical implications of these results are discussed. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Cervantes, Paige; Matson, Johnny L.; Tureck, Kim; Adams, Hilary L.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Cervantes, P (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM pcerva2@lsu.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Baio J., 2012, CTR DIS CONTROL PREV, V61
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NR 45
TC 4
Z9 4
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD DEC
PY 2013
VL 7
IS 12
BP 1528
EP 1534
DI 10.1016/j.rasd.2013.09.005
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500006
ER
PT J
AU Sansosti, FJ
Was, C
Rawson, KA
Remaklus, BL
AF Sansosti, Frank J.
Was, Christopher
Rawson, Katherine A.
Remaklus, Brittany L.
TI Eye movements during processing of text requiring bridging inferences in
adolescents with higher functioning autism spectrum disorders: A
preliminary investigation
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Eye-tracking; Eye-movements; Bridging
inferences; Text comprehension
ID READING-COMPREHENSION; LANGUAGE; CHILDREN; READERS; KNOWLEDGE
AB In this study, 18 children with higher functioning autism (HFASD) and 16 controls read short, two-sentence passages that necessitated a bridging inference for comprehension and responded to a general knowledge question that was either primed or unprimed by the inference. We measured mean reading times and correct responses to knowledge questions, as well as recorded the eye-movements of the participants while reading. Analysis of reaction times to general knowledge questions were faster for questions in relevant context as compared to those in irrelevant contexts, suggesting that children with HFASD were able to build the bridging inferences necessary for comprehension. Eye-movement data revealed that children with HFASD spent more time fixating on text, made more fixations overall, and made more regressions (i.e., moving backward within the text) while reading than did controls. Implications of these findings and suggestions for future research are offered. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Sansosti, Frank J.; Was, Christopher; Rawson, Katherine A.; Remaklus, Brittany L.] Kent State Univ, Kent, OH USA.
RP Sansosti, FJ (reprint author), Kent State Univ, Kent, OH USA.
EM fsansost@kent.edu
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NR 28
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD DEC
PY 2013
VL 7
IS 12
BP 1535
EP 1542
DI 10.1016/j.rasd.2013.09.001
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500007
ER
PT J
AU Tajmirriyahi, M
Nejati, V
Pouretemad, H
Sepehr, RM
AF Tajmirriyahi, Maryam
Nejati, Vahid
Pouretemad, Hamidreza
Sepehr, Rouhollah Mansuri
TI Reading the mind in the face and voice in parents of children with
Autism Spectrum Disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Theory of mind; Reading the Mind in the Eyes; Reading the Mind
in the Voice
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; COGNITIVE PHENOTYPE; REVISED
VERSION; NORMAL ADULTS; INDIVIDUALS; RECOGNITION; ATTRIBUTION;
PERCEPTION; EMOTION
AB One core feature of Autism Spectrum Disorders (ASD) is impairment in social functioning and inferring mental states and emotions referred to theory of mind (TOM). The "Broad Autism Phenotype" (BAP) proposes that defining features of autism express in milder form among first degree relatives of these patients. Theory of mind deficits has been examined using advanced TOM tasks such as "Reading the Mind in the Eyes". This study has furthered previous findings using another test designed to tap higher TOM abilities named "Mind Reading in the Voice". The objective of this study is to examine theory of mind abilities from two main communicative sources in parents of children with ASD in contrast to two groups, one clinical and one non-clinical. Forty-eight parents of individuals with autism, 31 parents of individuals with Down syndrome and 30 parents of typically developed children were administered two tests of mind-reading. Analysis revealed that although there is not a significant difference between three groups' performance in "Mind Reading from Eyes", parents of children with ASD have significantly lower performance in "Mind Reading from Voice". It can be concluded that TOM deficits in parents of children with ASD are not restricted to inferring mental states form eyes and deficits in mind-reading from voice could also be a part of BAP. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Tajmirriyahi, Maryam; Nejati, Vahid; Pouretemad, Hamidreza; Sepehr, Rouhollah Mansuri] Shahid Beheshti Univ, Departmenat Educ & Psychol, Tehran, Iran.
RP Nejati, V (reprint author), Shahid Beheshti Univ, Departmenat Educ & Psychol, Tehran, Iran.
EM nejati@sbu.ac.ir
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NR 43
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 DEC
PY 2013
VL 7
IS 12
BP 1543
EP 1550
DI 10.1016/j.rasd.2013.08.007
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500008
ER
PT J
AU Persicke, A
St Clair, M
Tarbox, J
Najdowski, A
Ranick, J
Yu, Y
de Nocker, YL
AF Persicke, Angela
St Clair, Megan
Tarbox, Jonathan
Najdowski, Adel
Ranick, Jennifer
Yu, Yue
de Nocker, Yanicka L.
TI Teaching children with autism to attend to socially relevant stimuli
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Attention; Shifting attention; Executive function; Social
stimuli
ID JOINT ATTENTION; SHIFTING ATTENTION; DISORDER; INFANTS; BIDS; 1ST
AB Research has shown that children with autism often fail to attend to relevant stimuli in social situations, likely resulting in unsuccessful or absent social interactions. The purpose of this study was to teach children with autism to attend to stimuli with socially relevant features. Specifically, this study evaluated a teaching package including rules, modeling, role play, and specific feedback across multiple exemplars to teach children with autism to attend and respond to others' bids for social attention (e.g., "Whoa!" or "Ouch!"). Three participants successfully learned to shift attention toward others and emit a response to gain more information in response to a socially relevant stimulus. Furthermore, generalization was observed across novel exemplars and people. (C) 2013 Elsevier Ltd. All rights reserved.
EM J.Tarbox@autismresearchgroup.org
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 26
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD DEC
PY 2013
VL 7
IS 12
BP 1551
EP 1557
DI 10.1016/j.rasd.2013.09.002
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500009
ER
PT J
AU Dillenburger, K
Jordan, JA
McKerr, L
Devine, P
Keenan, M
AF Dillenburger, Karola
Jordan, Julie Ann
McKerr, Lyn
Devine, Paula
Keenan, Mickey
TI Awareness and knowledge of autism and autism interventions: A general
population survey
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Autism spectrum disorder; General population; Public awareness
ID SPECTRUM DISORDERS; CHILDREN; PREVALENCE; BRAIN
AB Recent figures show that autism spectrum disorder (ASD) affects at least 1 in 88 of the population, yet for years, international public awareness of ASD was limited. Over the past 5-10 years intense efforts have been made to raise autism awareness in the general population in countries such as UK and US. In this paper we report data from a large-scale general population survey (N = 1204) in which we assessed autism awareness, knowledge about autism, and perceptions about autism interventions in Northern Ireland. We found high levels of autism awareness, in fact over 80% of the sample were aware of ASD and over 60% of these respondents knew someone with ASD in their own family, circle of friends or work colleagues. Generally, knowledge of strengths and challenges faced by individuals with ASD was relatively accurate. However, perceptions of interventions and service provider responsibilities were vague and uncertain. Results show that local and international autism awareness campaigns have largely been successful and that the focus should shift towards disseminating accurate information regarding intervention and service provider responsibilities. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Dillenburger, Karola; Jordan, Julie Ann; McKerr, Lyn] Queens Univ Belfast, Ctr Behav Anal, Sch Educ, Belfast BT7 1NN, Antrim, North Ireland.
[Devine, Paula] Queens Univ Belfast, ARK, Sch Sociol Social Policy & Social Work, Belfast BT7 1NN, Antrim, North Ireland.
[Keenan, Mickey] Univ Ulster, Sch Psychol, Coleraine BT52 1SA, Londonderry, North Ireland.
RP Dillenburger, K (reprint author), Queens Univ Belfast, Ctr Behav Anal, Sch Educ, Belfast BT7 1NN, Antrim, North Ireland.
EM k.dillenburger@qub.ac.uk
CR APA, 2013, DIAGNOSTIC AND STATI
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NR 33
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 DEC
PY 2013
VL 7
IS 12
BP 1558
EP 1567
DI 10.1016/j.rasd.2013.09.004
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500010
ER
PT J
AU Andrews, L
Attwood, T
Sofronoff, K
AF Andrews, Lize
Attwood, Tony
Sofronoff, Kate
TI Increasing the appropriate demonstration of affectionate behavior, in
children with Asperger syndrome, high functioning autism, and PDD-NOS: A
randomized controlled trial
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Asperger syndrome; Affectionate behavior; Friendship
ID SPECTRUM DISORDERS; INTERVENTION; ANXIETY
AB Individuals with Asperger syndrome (AS) can have difficulty understanding, receiving and expressing appropriate affectionate behavior (Attwood, 2007). The purpose of the current study was to further evaluate the effectiveness of a cognitive-behavioral intervention program aimed at improving affectionate communication and friendship skills in children with AS. The pilot study of this program (Sofronoff, Eloff, Sheffield, & Attwood, 2011) was extended in the current study in a randomized controlled trial. Fifty-eight children with AS (aged 7-12 years) participated in the program and were randomly assigned to the intervention (n = 29) or waitlist (n = 29) condition. Parent-report measures indicated that, relative to the waitlist group, children in the intervention group showed significantly greater improvements in the overall appropriateness of their affectionate behavior to others after the program. Specifically, improvements were reported in the appropriate expression of affection to others and this finding was maintained at three-month follow-up. Parent-report measures further demonstrated significant improvements in children's communication of empathy to others at follow-up. Children's understanding of the purpose of affection approached significance. Overall, this study indicates that children with AS can be taught to interact more appropriately. The limitations and suggestions for future research are discussed. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Andrews, Lize; Sofronoff, Kate] Univ Queensland, Brisbane, Qld 4072, Australia.
[Attwood, Tony] Griffith Univ, Nathan, Qld 4111, Australia.
RP Sofronoff, K (reprint author), Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
EM kate@psy.uq.edu.au
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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 DEC
PY 2013
VL 7
IS 12
BP 1568
EP 1578
DI 10.1016/j.rasd.2013.09.010
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500011
ER
PT J
AU Kaat, AJ
Lecavalier, L
AF Kaat, Aaron J.
Lecavalier, Luc
TI Disruptive behavior disorders in children and adolescents with autism
spectrum disorders: A review of the prevalence, presentation, and
treatment
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Review
DE Oppositional defiant disorder; Conduct disorder; Disruptive behavior;
Autism spectrum disorder; Treatment; Prevalence
ID PERVASIVE DEVELOPMENTAL DISORDERS; SCHOOL-AGE-CHILDREN;
ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; RANDOMIZED CONTROLLED-TRIAL;
CHALLENGING BEHAVIORS; ASPERGER-SYNDROME; CONDUCT DISORDER;
YOUNG-CHILDREN; INTELLECTUAL DISABILITY; PSYCHIATRIC-DISORDERS
AB Children and adolescents with autism spectrum disorders (ASDs) often exhibit behaviors consistent with a disruptive behavior disorder (DBD) such as oppositional defiant disorder (ODD) or conduct disorder (CD). Understanding the relationship between ASDs and DBDs has important implications for clinicians and researchers. We reviewed 55 peer-reviewed articles published between 2000 and 2012 on the prevalence, phenomenology, or psychosocial treatments of DBDs in youth with ASDs. Prevalence estimates vary between 4% and 37% for ODD and 1% and 10% for CD. On the whole, approximately one in four children with an ASD meets diagnostic criteria for either ODD or CD. Most research on phenomenology has focused on distinguishing between DBDs and ASDs, rather than examining their co-occurrence. After the preschool years, the disorders can be reliably distinguished, but certain behaviors are more common among those with ASDs compared to their non-ASD counterparts. If one excludes medication trials and single-subject designs, there have been few treatment studies on DBDs in ASDs. Parent training has been the primary mode of psychosocial treatment and has some support for its efficacy. Overall, when it comes to DBDs, there has been a dearth of research using DSM-nosology in youth with ASDs. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Kaat, Aaron J.; Lecavalier, Luc] Ohio State Univ, Nisonger Ctr, Columbus, OH 43210 USA.
[Kaat, Aaron J.; Lecavalier, Luc] Ohio State Univ, Dept Psychol, Columbus, OH 43210 USA.
[Lecavalier, Luc] Ohio State Univ, Dept Psychiat, Columbus, OH 43210 USA.
RP Lecavalier, L (reprint author), Ohio State Univ, Nisonger Ctr, 371D McCampbell Hall,1581 Dodd Dr, Columbus, OH 43210 USA.
EM luc.lecavalier@osumc.edu
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NR 93
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 DEC
PY 2013
VL 7
IS 12
BP 1579
EP 1594
DI 10.1016/j.rasd.2013.08.012
PG 16
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500012
ER
PT J
AU Mannion, A
Leader, G
AF Mannion, Arlene
Leader, Geraldine
TI Comorbidity in autism spectrum disorder: A literature review
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Review
DE Comorbidity; Autism spectrum disorder; Attention deficit/hyperactivity
disorder (AD/HD); Epilepsy; Sleep problems; Gastrointestinal symptoms
ID DEFICIT HYPERACTIVITY DISORDER; INTELLECTUALLY DISABLED ADULTS;
TOILETING ISSUES POTI; SLEEP PROBLEMS; GASTROINTESTINAL SYMPTOMS;
PSYCHIATRIC-DISORDERS; YOUNG-ADULTS; PSYCHOMETRIC PROPERTIES;
CHALLENGING BEHAVIOR; DEVELOPING-CHILDREN
AB Comorbidity is defined as the co-occurrence of two or more disorders in the same person (Matson & Nebel-Schwalm, 2007). The current study provides a review of the literature on comorbidity, in relation to comorbid psychiatric and medical disorders in babies and infants, children, adults and across the lifespan. We also examine comorbid conditions such as attention deficit/hyperactivity disorder (AD/HD), epilepsy, gastrointestinal symptoms, sleep problems, feeding problems and toileting problems in individuals with autism spectrum disorder. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Mannion, Arlene; Leader, Geraldine] Natl Univ Ireland, Galway, Ireland.
RP Leader, G (reprint author), Natl Univ Ireland, Irish Ctr Autism & Neurodev Res, Sch Psychol, Galway, Ireland.
EM geraldine.leader@nuigalway.ie
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World Health Organization, 1992, INT CLASS DIS REL HL
NR 126
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 DEC
PY 2013
VL 7
IS 12
BP 1595
EP 1616
DI 10.1016/j.rasd.2013.09.006
PG 22
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500013
ER
PT J
AU Horlin, C
Falkmer, M
Fitzgerald, P
Leung, D
Ordqvist, A
Falkmer, T
AF Horlin, Chiara
Falkmer, Marita
Fitzgerald, Patrick
Leung, Denise
Ordqvist, Anna
Falkmer, Torbjorn
TI The influence of static versus naturalistic stimuli on face processing
in children with and without Asperger syndrome or high-functioning
autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Face processing; ASD; Eye-tracking; Dynamic
ID DYNAMIC FACIAL EXPRESSIONS; SPECTRUM DISORDERS; MENTAL STATES;
PERCEPTION; GAZE; EMOTION; ADULTS; RECOGNITION; STRATEGIES; IDENTITY
AB Questions regarding the use of static or dynamic facial stimuli in experimental studies investigating facial processing of individuals with AS/HFA raises issues of both ecological validity and the applicability of experimental findings to clinical or everyday practice. Children with and without AS/HFA (n = 38) were fitted with a head-mounted eye-tracker and exposed to either static or interactive dynamic facial stimuli. Average fixation duration, the proportion of fixations in areas of interest and a comparative index that was independent of differences in presentation length between stimuli types were calculated. Visual scanning patterns of individuals with AS/HFA were not affected by stimuli type. However, control participants exhibited different scanning patterns between dynamic and static stimuli for certain regions of the face. Visual scanning patterns in children with AS/HFA are consistent regardless of the stimuli being a static photo or dynamic in the form of a real face. Hence, information from experimental studies with static photos of faces provide information that is valid and can be generalised to "real world" interactions. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Horlin, Chiara; Falkmer, Marita; Fitzgerald, Patrick; Leung, Denise; Falkmer, Torbjorn] Curtin Univ, Sch Occupat Therapy & Social Work, CHIRI, Perth, WA 6845, Australia.
[Falkmer, Marita] Jonkoping Univ, Sch Educ & Commun, CHILD Programme, Inst Disabil Res, SE-55111 Jonkoping, Sweden.
[Ordqvist, Anna; Falkmer, Torbjorn] Linkoping Univ, Dept Med & Hlth Sci IMH, Fac Hlth Sci, SE-58185 Linkoping, Sweden.
[Ordqvist, Anna; Falkmer, Torbjorn] Pain & Rehabil Ctr, SE-58185 Linkoping, Sweden.
[Falkmer, Torbjorn] La Trobe Univ, Sch Occupat Therapy, Melbourne, Vic 3086, Australia.
RP Falkmer, T (reprint author), Curtin Univ, Sch Occupat Therapy & Social Work, CHIRI, Fac Hlth Sci, GPO Box U1987, Perth, WA 6845, Australia.
EM T.Falkmer@curtin.edu.au
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Woolfenden S, 2012, RES AUTISM SPECT DIS, V6, P345, DOI 10.1016/j.rasd.2011.06.008
Yarbus A. L., 1967, EYE MOVEMENTS VISION
NR 38
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 DEC
PY 2013
VL 7
IS 12
BP 1617
EP 1624
DI 10.1016/j.rasd.2013.09.012
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500014
ER
PT J
AU Lin, LP
Kuan, CY
Hsu, SW
Lee, TN
Lai, CI
Wu, JL
Lin, JD
AF Lin, Lan-Ping
Kuan, Chiung-Ying
Hsu, Shang-Wei
Lee, Tzong-Nan
Lai, Chia-Im
Wu, Jia-Lin
Lin, Jin-Ding
TI Outpatient visits and expenditures for children and adolescents
diagnosed with autism spectrum disorders and co-occurring intellectual
disability: An analysis of the national health insurance claims data
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders (ASD); Intellectual disability (ID); Medical
expenditure; Outpatient; Healthcare
ID MEDICAL-CARE; MENTAL-HEALTH; PREVALENCE; ACCESS; ADULTS;
PSYCHOPATHOLOGY; SERVICES; NEEDS
AB The primary healthcare service profile is important and provides valuable information on healthcare policies for patients with autism spectrum disorders (ASD) and co-occurring conditions. The present study analyzed data associated with outpatient care visits and expenditures in patients with ASD and co-occurring intellectual disability (ID) using healthcare setting insurance claims data in Taiwan. A retrospective analysis was conducted by merging database of healthcare setting medical care discharge claims used by the Taiwan Bureau of National Health Insurance and Disability Registration System. There were 5273 children and adolescents with ASD who utilized outpatient services during the year 2005. Taiwan NHI claims (510 cases with co-occurring ID and 4763 cases without ID) were analyzed in the study. The study found that ASD subjects without ID have 1.6-fold the annual outpatient visits of those with ID (13 visits vs. 8 visits). Those ASD cases with ID are more likely to use psychiatric visits and that individuals without ID use more rehabilitation services. The total annual outpatient care expenditure from 5273 children and adolescents with ASD was 137,842,159 New Taiwan Dollars (NTD). Cases without ID have increased medical costs compared with cases with ID in annual outpatient care expenditure (OR = 1.274,95% CI = 1.173-1.384). A logistic regression analysis of outpatient expenditure (low vs. high) showed that of the cases with ASD and ID, the factors of age (reference: 6-11 years; 0-5 years, OR = 1.383,95% CI = 1.106-1.730), severe illness (reference: no; OR = 1.838, 95% CI = 1.538-2.196), low income family (reference: no; OR = 1.799,95% CI = 1.344-2.408), medical care setting (reference: clinic; private hospital: OR = 1.769, 95% CI = 1.199-2.610; corporate hospital, OR = 1.624, 95% CI = 1.139-2315) and clinical unit (reference: psychiatric; rehabilitation, OR = 1.913, 95% CI = 1.651-2344; pediatrics, OR = 1.461, 95% CI = 1.014-2.017) had more outpatient costs (on average) than their counterparts. Finally, this study highlights that health authorities should pay much attention to the factors which correlated to medical needs and costs of children and adolescents with ASD and ID to ensure efficacy of medication and continuing support for patients in treatment. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Lin, Lan-Ping] Ching Kuo Inst Management & Hlth, Dept Senior Citizen Serv Management, Keelung, Taiwan.
[Lin, Lan-Ping; Kuan, Chiung-Ying; Lee, Tzong-Nan; Lai, Chia-Im; Lin, Jin-Ding] Natl Def Med Ctr, Sch Publ Hlth, Taipei, Taiwan.
[Hsu, Shang-Wei] Asia Univ, Dept Healthcare Adm, Taichung, Taiwan.
[Hsu, Shang-Wei] China Med Univ, Dept Publ Hlth, Taichung, Taiwan.
[Wu, Jia-Lin; Lin, Jin-Ding] Chung Hua Fdn Persons Intellectual Disabil, New Taipei City, Taiwan.
RP Lin, JD (reprint author), Natl Def Med Ctr, Sch Publ Hlth, 161 Min Chun East Rd,Sect 6, Taipei, Taiwan.
EM sasa.lin@hotmail.com; a530706@ndmctsgh.edu.tw
CR Amendah D., 2011, AUTISM SPECTRUM DISO, P1343
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Blumberg S.J., 2013, NATL HLTH STAT REPOR, V65, P1
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Centers for Disease Control and Prevention, 2007, MMWR-MORBID MORTAL W, V56, P1
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National Institute of Neurological Disorders and Stroke, 2009, AUT FACT SHEET
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Polder JJ, 2002, J INTELL DISABIL RES, V46, P168, DOI 10.1046/j.1365-2788.2002.00384.x
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Sun X, 2013, RES DEV DISABIL, V34, P469, DOI 10.1016/j.ridd.2012.08.013
Young Margaret B., 2012, Morbidity and Mortality Weekly Report, V61, P1
Thomas KC, 2007, J AUTISM DEV DISORD, V37, P1902, DOI 10.1007/s10803-006-0323-7
Totsika V, 2011, J CHILD PSYCHOL PSYC, V52, P91, DOI 10.1111/j.1469-7610.2010.02295.x
Tsakanikos E, 2006, J AUTISM DEV DISORD, V36, P1123, DOI 10.1007/s10803-006-0149-3
Underwood L, 2010, CURR OPIN PSYCHIATR, V23, P421, DOI 10.1097/YCO.0b013e32833cfc18
Volkmar FR, 2006, CURR OPIN PSYCHIATR, V19, P361, DOI 10.1097/01.yco.0000228754.64743.66
Wang L, 2010, J AM ACAD CHILD PSY, V49, P1165, DOI 10.1016/j.jaac.2010.08.003
Young A, 2009, RES AUTISM SPECT DIS, V3, P1023, DOI 10.1016/j.rasd.2009.06.006
NR 42
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 DEC
PY 2013
VL 7
IS 12
BP 1625
EP 1630
DI 10.1016/j.rasd.2013.09.003
PG 6
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500015
ER
PT J
AU Brady, DI
Schwean, VL
Saklofske, DH
McCrimmon, AW
Montgomery, JM
Thorne, KJ
AF Brady, Danielle I.
Schwean, Vicki L.
Saklofske, Donald H.
McCrimmon, Adam W.
Montgomery, Janine M.
Thorne, Keoma J.
TI Conceptual and Perceptual Set-shifting executive abilities in young
adults with Asperger's syndrome
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Asperger's Syndrome; Autism spectrum disorder; Executive functions;
Extradimensional/Conceptual set-shifting; Frontal-striatal and
prefrontal cortex and; Neuropsychological
ID INFERIOR PREFRONTAL CORTEX; AUTOMATED BATTERY CANTAB; FRONTAL-LOBE
FUNCTION; CARD SORTING TEST; WORKING-MEMORY; TRANSIENT ACTIVATION;
PARKINSONS-DISEASE; LARGE-SAMPLE; AUTISM; PERFORMANCE
AB Neuropsychological models of frontal lobe functioning have led to a greater appreciation of the dissociations among various aspects of executive functions. Theories of executive function have been proposed to account, at least in part, for the unique social and emotional difficulties experienced by individuals with Asperger's syndrome (AS). Given the paucity of research regarding the neural correlates of executive function in AS, this investigation research involves an examination of a well-established measure of executive, fronto-striatal function in young adults with AS. Findings provide preliminary evidence to support a specific type of executive dysfunction and in particular, extradimensional or conceptual set-shifting difficulties in individuals with AS that implicates prefrontal cortex and frontal-striatal function. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Brady, Danielle I.; McCrimmon, Adam W.; Thorne, Keoma J.] Univ Calgary, Div Appl Psychol, Calgary, AB T2N 1N4, Canada.
[Schwean, Vicki L.] Univ Western Ontario, Fac Educ, London, ON N6G 1G7, Canada.
[Saklofske, Donald H.] Univ Western Ontario, Dept Psychol, Social Sci Ctr, London, ON N6A 5C2, Canada.
[Montgomery, Janine M.] Univ Manitoba, Dept Psychol, Winnipeg, MB R3T 2N2, Canada.
RP Brady, DI (reprint author), POB 21055,110 Columbia Blvd West, Lethbridge, AB, Canada.
EM dbrady@ucalgary.ca
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Wechsler D, 1999, WECHSLER ABBREVIATED
NR 42
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 DEC
PY 2013
VL 7
IS 12
BP 1631
EP 1637
DI 10.1016/j.rasd.2013.09.009
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500016
ER
PT J
AU Johnson, BP
Papadopoulos, N
Fielding, J
Tonge, B
Phillips, JG
Rinehart, NJ
AF Johnson, Beth P.
Papadopoulos, Nicole
Fielding, Joanne
Tonge, Bruce
Phillips, James G.
Rinehart, Nicole J.
TI A quantitative comparison of handwriting in children with
high-functioning autism and attention deficit hyperactivity disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Handwriting; Fine motor; Dysgraphia; Autism; Attention deficit
hyperactivity disorder
ID DEVELOPMENTAL COORDINATION DISORDER; DEFICIT/HYPERACTIVITY DISORDER;
BEHAVIOR CHECKLIST; SPECTRUM DISORDERS; WRITING SKILLS; ADHD;
PERFORMANCE; METHYLPHENIDATE; IMPAIRMENTS
AB Children with high-functioning autism (HFA) and attention deficit hyperactivity disorder (ADHD) often experience significant handwriting difficulties, which can hamper their academic progress and ability to express themselves through symbols and words. Handwriting of children with HFA was compared to those with ADHD based on performance on the speed subtest of the Handwriting Performance Test. Differences in handwriting speed, size and alignment of words, and proportion of handwriting errors, such as corrections and substitutions, were assessed between groups. Results indicated distinct profiles of handwriting problems in HFA and ADHD: children with HFA demonstrated poorer spatial arrangement of words and reduced handwriting speed, and those with ADHD made more handwriting errors, such as corrections and transpositions. These findings have important implications in understanding the similarities and differences for children with HFA and ADHD and lay the groundwork for effective intervention strategies. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Johnson, Beth P.; Fielding, Joanne; Tonge, Bruce; Phillips, James G.] Monash Univ, Sch Psychol & Psychiat, Clayton, Vic 3800, Australia.
[Papadopoulos, Nicole; Rinehart, Nicole J.] Deakin Univ, Sch Psychol, Burwood, Vic, Australia.
RP Johnson, BP (reprint author), Monash Univ, Sch Psychol & Psychiat, Bldg 17,Wellington Rd, Clayton, Vic 3800, Australia.
EM beth.johnson@monash.edu
CR Adi-Japha E, 2007, CORTEX, V43, P700, DOI 10.1016/S0010-9452(08)70499-4
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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Henderson S, 2007, MOVEMENT ASSESSMENT, V2nd
Johnson BP, 2013, RES DEV DISABIL, V34, P2917, DOI 10.1016/j.ridd.2013.06.003
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Langmaid R., 2012, J ATTENTION DISORDER
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Wechsler D, 1999, WECHSLER ABBREVIATED
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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 DEC
PY 2013
VL 7
IS 12
BP 1638
EP 1646
DI 10.1016/j.rasd.2013.09.008
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500017
ER
PT J
AU Fienup, DM
Shelvin, KH
Doepke, K
AF Fienup, Daniel M.
Shelvin, Kristal H.
Doepke, Karla
TI Increasing recall of information of children diagnosed with Asperger's
Syndrome: Utilization of visual strategies
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Asperger's Syndrome; Visual prompts; Recall; Friendship
ID AUTISM; SKILLS
AB Social skills deficits are a hallmark diagnostic characteristic (American Psychiatric Association, 2013) of individuals diagnosed with Asperger's Syndrome (AS) or Autism. Interventions targeting social skills with this population have highlighted the effectiveness of visual strategies. This investigation examined the effectiveness of visual strategies in improving recall of personal information of others, a key friendship skill. In a social skills group, children played a game requiring them to recall information about each other. Visual prompts were found to be effective in helping children to recall information of other children. Children also demonstrated the ability to generate their own visual prompts to increase recall. Implications and directions for future research are discussed. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Fienup, Daniel M.; Shelvin, Kristal H.; Doepke, Karla] Illinois State Univ, Dept Psychol, Normal, IL 61790 USA.
[Fienup, Daniel M.] CUNY Queens Coll, Dept Psychol, Flushing, NY 11367 USA.
RP Fienup, DM (reprint author), CUNY Queens Coll, Dept Psychol, 65-30 Kissena Blvd, Flushing, NY 11367 USA.
EM daniel.fienup@qc.cuny.edu; khshelvin@aol.com; kdoepke@ilstu.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Attwood T., 2000, AUTISM, V4, P85, DOI DOI 10.1177/1362361300004001006
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Mancil GR, 2009, FOCUS AUTISM DEV DIS, V24, P205, DOI 10.1177/1088357609347324
Myles B. S., 2002, FOCUS AUTISM OTHER D, V17, P132, DOI 10.1177/10883576020170030201
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Reynolds C. R., 1992, BEHAV ASSESSMENT SYS
Schmit J, 2000, MENT RETARD, V38, P131, DOI 10.1352/0047-6765(2000)038<0131:EOUAPC>2.0.CO;2
Stromer R., 2006, FOCUS AUTISM OTHER D, V21, P14, DOI 10.1177/10883576060210010301
NR 16
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 DEC
PY 2013
VL 7
IS 12
BP 1647
EP 1652
DI 10.1016/j.rasd.2013.09.015
PG 6
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500018
ER
PT J
AU McKissick, BR
Spooner, F
Wood, CL
Diegelmann, KM
AF McKissick, Bethany R.
Spooner, Fred
Wood, Charles L.
Diegelmann, Karen M.
TI Effects of computer-assisted explicit instruction on map-reading skills
for students with autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Social studies instruction; Explicit instruction; Computer-assisted
instruction; Autism
ID SEVERE DEVELOPMENTAL-DISABILITIES; SIGNIFICANT COGNITIVE DISABILITIES;
SPECTRUM DISORDERS; ACADEMIC SKILLS; TEACH SCIENCE; COMPREHENSION;
TECHNOLOGY; INTERVENTIONS; METAANALYSIS; ACQUISITION
AB Educational reform for students with disabilities, including autism, has a history of focusing solely on the content areas of reading, mathematics, and science. To date, few empirical studies examining social studies have been published. This study investigated the effects of a computer-assisted explicit instruction package to teach map-reading skills to three elementary school students with autism. A multiple probe across participants design was used to examine the effectiveness of the intervention package. While results did not show a functional relationship, all three students' data indicated a change in level and two students' data showed a change in trend. Implications for practice and suggestions for future research are also discussed. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [McKissick, Bethany R.] Mississippi State Univ, Mississippi State, MS 39762 USA.
[Spooner, Fred; Wood, Charles L.; Diegelmann, Karen M.] Univ N Carolina, Charlotte, NC 28223 USA.
RP McKissick, BR (reprint author), 310 Allen Hall,Box 9705, Mississippi State, MS 39762 USA.
EM bmckissick@colled.msstate.edu
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Zakas T. L., 2011, THESIS U N CAROLINA
NR 52
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 DEC
PY 2013
VL 7
IS 12
BP 1653
EP 1662
DI 10.1016/j.rasd.2013.09.013
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500019
ER
PT J
AU Mannion, A
Leader, G
AF Mannion, Arlene
Leader, Geraldine
TI An analysis of the predictors of comorbid psychopathology,
gastrointestinal symptoms and epilepsy in children and adolescents with
autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Comorbidity; Autism spectrum disorder; Comorbid psychopathology; Sleep
problems; Gastrointestinal symptoms
ID SLEEP HABITS QUESTIONNAIRE; SCHOOL-AGED CHILDREN; PREVALENCE; SAMPLE
AB Mannion, Leader, and Healy (2013) examined the frequency of comorbid disorders in children and adolescents with autism spectrum disorder and the predictors of sleep problems. This study will extend this research by investigating the predictors of comorbidity in 89 participants. Age, gender, level of intellectual disability, presence of epilepsy, attention deficit/hyperactivity disorder (AD/HD) and an anxiety disorder were determined using a self-constructed demographic questionnaire. The Autism Spectrum Disorder-Comorbid for Children (ASD-CC) was administered to informants to assess symptoms of comorbid psychopathology. The Children's Sleep Habits Questionnaire (CSHQ) and Gastrointestinal symptom inventory were administered to assess sleep problems and gastrointestinal symptoms respectively. Sleep problems predicted gastrointestinal symptoms. Level of intellectual disability predicted gastrointestinal symptoms. Specifically, those with no intellectual disability were more likely to present with gastrointestinal symptoms. Gastrointestinal symptoms in turn predicted total comorbid psychopathology score and the individual subscales of worry/depressed, avoidant behavior, conduct behavior and tantrum behavior on the ASD-CC. Gender and ASD-CC total score predicted an individual having an anxiety disorder. Specifically, being male predicted an anxiety disorder. The ASD-CC subscales of worry/depressed and avoidant behavior predicted an anxiety disorder. The implications of these findings are discussed in the study. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Mannion, Arlene; Leader, Geraldine] Natl Univ Ireland, Galway, Ireland.
RP Leader, G (reprint author), Natl Univ Ireland, Irish Ctr Autism & Neurodev Res, Sch Psychol, Galway, Ireland.
EM geraldine.leader@nuigalway.ie
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NR 26
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 DEC
PY 2013
VL 7
IS 12
BP 1663
EP 1671
DI 10.1016/j.rasd.2013.10.002
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 283UM
UT WOS:000329272500020
ER
PT J
AU Sun, X
Allison, C
Auyeung, B
Matthews, FE
Baron-Cohen, S
Brayne, C
AF Sun, Xiang
Allison, Carrie
Auyeung, Bonnie
Matthews, Fiona E.
Baron-Cohen, Simon
Brayne, Carol
TI Service provision for autism in mainland China: Preliminary mapping of
service pathways
SO SOCIAL SCIENCE & MEDICINE
LA English
DT Article
DE Autism; Health and education; Service provision; Service users; Mainland
China
ID HEALTH-CARE; QUALITATIVE RESEARCH; CHILDREN; EDUCATION; DISORDER; STIGMA
AB Few data on healthcare services for individuals with Autism Spectrum Conditions (ASC) are available from mainland China. This article is based on findings from 69 semi-structured interviews with parents of children with ASC in three intervention centres. The respondents are from 19 regions in mainland China. A service-mapping questionnaire containing 50 questions is developed and used as an interview schedule for service mapping. The pathway to diagnosis and intervention for children with ASC is presented according to parents' experience. The findings report considerable delay along the pathway which may be partly due to the under-developed service system. Several cultural issues are identified which may also contribute to the delay, such as the perception of mental illness, folk beliefs equating delayed development of language skills in early childhood with future high intelligence, and the state-imposed one-child policy. Delays in recognising ASC and a lack of support are also considered to be associated with the considerable financial burden placed on parents of children with ASC in mainland China. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Sun, Xiang; Brayne, Carol] Univ Cambridge, Dept Publ Hlth & Primary Care, 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.
[Matthews, Fiona E.] Cambridge Inst Publ Hlth, MRC Biostat Unit, Cambridge CB2 0SR, England.
RP Sun, X (reprint author), Univ Cambridge, Dept Publ Hlth & Primary Care, Inst Publ Hlth, Forvie Site,Robinson Way, Cambridge CB2 0SR, England.
EM xs227@medschl.cam.ac.uk
FU Cambridge Commonwealth Trust; Clare Hall of the University of Cambridge;
Medical Research Council UK; Wellcome Trust; NIHR CLAHRC for
Cambridgeshire and Peterborough NHS Foundation Trust; MRC UK
FX We are grateful to all the participants and rehabilitation centres in
this research. We thank Professor Zhixiang Zhang for his support to this
study. XS was partly funded by Cambridge Commonwealth Trust and Clare
Hall of the University of Cambridge. SBC, CA, BA were funded by the
Medical Research Council UK, the Wellcome Trust, and the team were
funded by the NIHR CLAHRC for Cambridgeshire and Peterborough NHS
Foundation Trust during the period of this work. FM is funded by MRC UK.
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NR 38
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0277-9536
J9 SOC SCI MED
JI Soc. Sci. Med.
PD DEC
PY 2013
VL 98
BP 87
EP 94
DI 10.1016/j.socscimed.2013.08.016
PG 8
WC Public, Environmental & Occupational Health; Social Sciences, Biomedical
SC Public, Environmental & Occupational Health; Biomedical Social Sciences
GA 283UX
UT WOS:000329273600012
PM 24331886
ER
PT J
AU Planche, P
Botbol, M
AF Planche, Pascale
Botbol, Michel
TI Lyme disease, Autism Spectrum Disorder and antibiotic therapy: A case
report
SO ANNALES MEDICO-PSYCHOLOGIQUES
LA French
DT Article
DE Antibiotic therapy; Etiology; Infantile autism; Lyme disease
ID BORRELIOSIS; CHILDREN
AB Following an overview of the definition of autism and Lyme disease, a clinical case will be presented of a young subject (aged 14 years and a half) diagnosed with autism, and characterized by a typical development in the first year of life, followed by a general deterioration of abilities shortly after diagnosis of the onset of Lyme disease. The subject presented positive reactivity for Mycoplasma Pneumoniae. According to recent studies, misdiagnosis of initial symptoms of Lyme disease and delayed treatment can lead to persistent interactive coinfections in the organism which may result in chronic pathologies. Thus, a link could exist between a chronic infection with Mycoplasma Pneumoniae and an atypical symptomology similar to autism. So the hypothesis proposed is that there may be a correlation between Lyme disease and autism and that long-term antibiotic therapy may be an effective treatment. Following a clinical presentation of the history of this young patient, the evolution of the subject's symptomology and behavior during one year of antibiotic therapy will be described. His cognitive level was evaluated before and during treatment, and assessment showed a marked progress. In daily life, an increase in verbal communicative skills and social interaction, an improvement of sleep and a decrease in the repetitive behaviors were reported. The antibiotic therapy was administered simultaneously to contextual changes, so it was supposed that a medicamentous treatment could only have a favorable and long-term influence on behavior when associated with a regular and adapted educational program. Finally, this case study will allow us to question the definition of autism, its etiology and the validity of the initial diagnosis established for this patient. The present study also raises the following questions: how can the subject's "late entry" in autism be explained? Was the subject misdiagnosed with autism? Did the presented behaviors have an infection-induced cause or, more precisely, is the outbreak of autistic disorders compatible with a post-Lyme disease syndrome? Or else, if it was the case that autism was present from the subject's birth and its emergence was preceded during the first months of life by a set of subtle and discreet disorders (thus not detected by the parents), could it be said that the Lyme disease has simply playing the role of revealing of the autistic syndrome? Further research is required in order to provide evidence that long-term antibiotic therapy could be an appropriate treatment for children co-morbid with Autism Spectrum Disorder and Lyme disease. (C) 2013 Elsevier Masson SAS. All rights reserved.
C1 [Planche, Pascale] UFR Lettres & Sci Humaines, F-29238 Brest, France.
[Planche, Pascale] Univ Europeenne Bretagne Occidentale, Ctr Rech Educ Apprentissages & Didact, EA 3875, F-29200 Brest, France.
[Botbol, Michel] CHU Brest, Hop Bohars, Serv Pedopsychiat, F-29820 Brest, France.
RP Planche, P (reprint author), UFR Lettres & Sci Humaines, 20 Rue Duquesne,CS 93837, F-29238 Brest, France.
EM pascale.planche@univ-brest.fr
CR Bransfeld RC, 2007, PSYCHIAT TIMES, V24, P29
Bransfield RC, 2008, MED HYPOTHESES, V70, P967, DOI 10.1016/j.mehy.2007.09.006
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Sparrow S, 1984, VINELAND ADAPTATIVE
Tager FA, 2001, J NEUROPSYCH CLIN N, V13, P500, DOI 10.1176/appi.neuropsych.13.4.500
NR 13
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 DEC
PY 2013
VL 171
IS 10
BP 711
EP 714
DI 10.1016/j.amp.2013.09.003
PG 4
WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology,
Multidisciplinary
SC Pharmacology & Pharmacy; Psychiatry; Psychology
GA 287KC
UT WOS:000329539700007
ER
PT J
AU Luaute, JP
Laxenaire, M
Bourgeois, M
AF Luaute, J. -P.
Laxenaire, M.
Bourgeois, M.
TI Lyme disease, Autism Spectrum Disorder and antibiotic therapy: A case
report Discussion
SO ANNALES MEDICO-PSYCHOLOGIQUES
LA French
DT Editorial Material
NR 0
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 DEC
PY 2013
VL 171
IS 10
BP 715
EP 715
DI 10.1016/j.amp.2013.09.004
PG 1
WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology,
Multidisciplinary
SC Pharmacology & Pharmacy; Psychiatry; Psychology
GA 287KC
UT WOS:000329539700008
ER
PT J
AU Cohen, OS
Varlinskaya, EI
Wilson, CA
Glatt, SJ
Mooney, SM
AF Cohen, Ori S.
Varlinskaya, Elena I.
Wilson, Carey A.
Glatt, Stephen J.
Mooney, Sandra M.
TI Acute prenatal exposure to a moderate dose of valproic acid increases
social behavior and alters gene expression in rats
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
LA English
DT Article
DE Adolescence; Autism; Gene expression; Sex differences; Social
interaction; Teratogen
ID SPRAGUE-DAWLEY RATS; ANIMAL-MODEL; BRAIN-STEM; PROLYL OLIGOPEPTIDASE;
P21-ACTIVATED KINASE; ETHANOL EXPOSURE; BIPOLAR DISORDER; ADOLESCENT
RATS; MOOD STABILIZER; AUTISM
AB Prenatal exposure to moderate doses of valproic acid (VPA) produces brainstem abnormalities, while higher doses of this teratogen elicit social deficits in the rat. In this pilot study, we examined effects of prenatal exposure to a moderate dose of VPA on behavior and on transcriptomic expression in three brain regions that mediate social behavior. Pregnant Long Evans rats were injected with 350 mg/kg VPA or saline on gestational day 13. A modified social interaction test was used to assess social behavior and social preference/avoidance during early and late adolescence and in adulthood. VPA-exposed animals demonstrated more social investigation and play fighting than control animals. Social investigation, play fighting, and contact behavior also differed as a function of age; the frequency of these behaviors increased in late adolescence. Social preference and locomotor activity under social circumstances were unaffected by treatment or age. Thus, a moderate prenatal dose of VPA produces behavioral alterations that are substantially different from the outcomes that occur following exposure to a higher dose. At adulthood, VPA-exposed subjects exhibited transcriptomic abnormalities in three brain regions: anterior amygdala, cerebellar vermis, and orbitofrontal cortex. A common feature among the proteins encoded by the dysregulated genes was their ability to be modulated by acetylation. Analysis of the expression of individual exons also revealed that genes involved in post-translational modification and epigenetic regulation had particular isoforms that were ubiquitously dysregulated across brain regions. The vulnerability of these genes to the epigenetic effects of VPA may highlight potential mechanisms by which prenatal VPA exposure alters the development of social behavior. (C) 2013 ISDN. Published by Elsevier Ltd. All rights reserved.
C1 [Cohen, Ori S.; Wilson, Carey A.; Glatt, Stephen J.] SUNY Upstate Med Univ, Dept Psychiat & Behav Sci, Psychiat Genet Epidemiol & Neurobiol Lab, PsychGENe Lab, Syracuse, NY 13210 USA.
[Varlinskaya, Elena I.] SUNY Binghamton, Dept Psychol, Ctr Dev & Behav Neurosci, Binghamton, NY 13902 USA.
[Varlinskaya, Elena I.; Mooney, Sandra M.] Dev Exposure Alcohol Res Ctr, Baltimore, MD 21201 USA.
[Varlinskaya, Elena I.; Mooney, Sandra M.] Dev Exposure Alcohol Res Ctr, Binghamton, NY 13902 USA.
[Varlinskaya, Elena I.; Mooney, Sandra M.] Dev Exposure Alcohol Res Ctr, Cortland, NY 13054 USA.
[Varlinskaya, Elena I.; Mooney, Sandra M.] Dev Exposure Alcohol Res Ctr, Syracuse, NY 13210 USA.
[Mooney, Sandra M.] Univ Maryland, Sch Med, Dept Pediat, Baltimore, MD 21201 USA.
RP Mooney, SM (reprint author), Univ Maryland, Sch Med, Dept Pediat, 655 W Baltimore St,BRB13-041, Baltimore, MD 21201 USA.
EM glatts@upstate.edu; smooney@peds.umaryland.edu
FU Autism Speaks; National Institute of Alcohol Abuse and Alcoholism
[AA018693, AA178231, AA012453]; National Institute of Mental Health, the
National Institute of Neurological Disorders and Stroke, and the
National Institute of Child Health and Human Development [1P50MH
081755-020003]; Gerber Foundation
FX We thank Karen Gentile, Renee Mezza, Wendi Burnette, and Terri Novak for
their technical assistance. This research was supported by Autism Speaks
(SMM), the National Institute of Alcohol Abuse and Alcoholism (AA018693
and AA178231 to S.M.M.; AA012453 and AA178231 to E.I.V.), the National
Institute of Mental Health, the National Institute of Neurological
Disorders and Stroke, and the National Institute of Child Health and
Human Development (1P50MH 081755-020003 to S.J.G.), and the Gerber
Foundation (S.J.G.).
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NR 74
TC 7
Z9 7
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 DEC
PY 2013
VL 31
IS 8
BP 740
EP 750
DI 10.1016/j.ijdevneu.2013.09.002
PG 11
WC Developmental Biology; Neurosciences
SC Developmental Biology; Neurosciences & Neurology
GA 283TP
UT WOS:000329270200005
PM 24055786
ER
PT J
AU Fumery, M
Corcos, O
Kapel, N
Stefanescu, C
Thomas, M
Joly, F
AF Fumery, M.
Corcos, O.
Kapel, N.
Stefanescu, C.
Thomas, M.
Joly, F.
TI Interest and techniques of fecal transplantation
SO JOURNAL DES ANTI-INFECTIEUX
LA French
DT Article
DE Fecal transplantation; Clostridium difficile; Microbiota; Inflammatory
diseases; Treatment emergent
ID CLOSTRIDIUM-DIFFICILE INFECTION; INFLAMMATORY-BOWEL-DISEASE;
TERM-FOLLOW-UP; MICROBIOTA TRANSPLANTATION; ONSET AUTISM; FLORA;
BACTERIOTHERAPY; EPIDEMIOLOGY; CONSTIPATION; MICROFLORA
AB Fecal transplantation (FT) is the infusion of fecal suspension from a healthy subject to the digestive tract of another individual. The objective of FT is to restore a suitable microbial ecology in diseases where the microbiota was unbalanced. The formal demonstration of the effectiveness of FT in the Clostridium difficile infection has encouraged its development for new indications such as metabolic or inflammatory diseases. However, the protocols and the effectiveness of FT reported in literature differ. Current data relate excellent safety, its indications should therefore increase. Guidelines are required to standardize the donor's selection and the effective preparation technique. (C) 2013 Published by Elsevier Masson SAS.
C1 [Fumery, M.] Ctr Hosp Univ Amiens, Serv Hepatogastroenterol, F-80000 Amiens, France.
[Corcos, O.; Stefanescu, C.; Joly, F.] Univ Paris 07, AP HP, Hop Beaujon,Serv Gastroenetrol, Pole Malad Appareil Digestif,MICI & Assitance Nut, F-92110 Clichy, France.
[Kapel, N.] Hop La Pitie Salpetriere, Serv Coprol Fonct, F-75013 Paris, France.
[Thomas, M.] Inst Natl Rech Agron, Unite MICALIS, Jouy En Josas, France.
[Joly, F.] Univ Paris 07, INSERM, Unite U773, F-75018 Paris, France.
RP Joly, F (reprint author), Univ Paris 07, AP HP, Hop Beaujon,Serv Gastroenetrol, Pole Malad Appareil Digestif,MICI & Assitance Nut, 100 Blvd Gen Leclerc, F-92110 Clichy, France.
EM francisca.joly@bjn.aphp.fr
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NR 38
TC 0
Z9 0
PU ELSEVIER MASSON
PI MILANO
PA VIA PALEOCAPA 7, 20121 MILANO, ITALY
SN 2210-6545
J9 J ANTI-INFECT
JI J. Anti-Infect.
PD DEC
PY 2013
VL 15
IS 4
BP 187
EP 192
DI 10.1016/j.antinf.2013.10.002
PG 6
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA 286PP
UT WOS:000329481500004
ER
PT J
AU Steinman, G
Mankuta, D
AF Steinman, Gary
Mankuta, David
TI Breastfeeding as a possible deterrent to autism - A clinical perspective
SO MEDICAL HYPOTHESES
LA English
DT Article
ID GROWTH-FACTOR-I; HORMONE-RELEASING FACTOR; INFANTILE-AUTISM; INSULIN;
CHILDREN; DISORDERS; ADULTS; OLDER; TWINS
AB The emergence of autism in young children appears to result from dysmyelination of brain neurons, related to inadequate supply of insulin-like growth factor (IGF) in the newborn. This report is intended to bring together relevant observations from prior research to develop a new, innovative hypothesis to elucidate the mechanism underlying autism development. The deficiency of IGF in affected infants may be due to a combination of genetic and environmental factors yet to be determined. If this hypothesis is correct, breastfeeding in particular could increase IGF levels, thereby compensating for an inborn deficiency of the growth factor. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Steinman, Gary] Touro Coll Osteopath Med, Dept Biochem, New York, NY 10027 USA.
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NR 39
TC 3
Z9 4
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 DEC
PY 2013
VL 81
IS 6
BP 999
EP 1001
DI 10.1016/j.mehy.2013.09.013
PG 3
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA 284QJ
UT WOS:000329334800006
PM 24099931
ER
PT J
AU Lee, YA
Goto, Y
AF Lee, Young-A
Goto, Yukiori
TI Reconsideration of animal models of schizophrenia and other psychiatric
disorders with evolutionary perspective
SO MEDICAL HYPOTHESES
LA English
DT Article
ID FRONTOTEMPORAL DEMENTIA; POSTPUBERTAL EMERGENCE; TRANSLATIONAL RESEARCH;
PREFRONTAL CORTEX; LATER LIFE; AUTISM; RATS; MIND; CONNECTIVITY;
RECEPTOR
AB Studies utilizing animal models for understanding biological mechanisms of such psychiatric disorders as schizophrenia have been now flourishing. Animal models are a essential part of translational research, and without them, it is not possible to develop therapeutic strategies to treat psychiatric disorders. Accordingly, importance of animal models has been increasingly emphasized. However, on the other side, limitations of such an animal model approach have been growingly deceptive. The aim of this review article is to discuss limitations of translational research utilizing animal models, and propose a new direction of research with evolutionary perspective to understand psychiatric disorders. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Lee, Young-A; Goto, Yukiori] Kyoto Univ, Primate Res Inst, Inuyama, Aichi 4848506, Japan.
RP Goto, Y (reprint author), Kyoto Univ, Primate Res Inst, 41-2 Kanrin, Inuyama, Aichi 4848506, Japan.
EM goto.yukiori.5c@kyoto-u.ac.jp
FU Kyoto University
FX The authors are supported by Kyoto University. We thank Dr. Nobuo
Masataka for support.
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NR 74
TC 0
Z9 0
PU CHURCHILL LIVINGSTONE
PI EDINBURGH
PA JOURNAL PRODUCTION DEPT, ROBERT STEVENSON HOUSE, 1-3 BAXTERS PLACE,
LEITH WALK, EDINBURGH EH1 3AF, MIDLOTHIAN, SCOTLAND
SN 0306-9877
EI 1532-2777
J9 MED HYPOTHESES
JI Med. Hypotheses
PD DEC
PY 2013
VL 81
IS 6
BP 1120
EP 1126
DI 10.1016/j.mehy.2013.10.017
PG 7
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA 284QJ
UT WOS:000329334800035
PM 24199948
ER
PT J
AU Lambrot, R
Xu, C
Saint-Phar, S
Chountalos, G
Cohen, T
Paquet, M
Suderman, M
Hallett, M
Kimmins, S
AF Lambrot, R.
Xu, C.
Saint-Phar, S.
Chountalos, G.
Cohen, T.
Paquet, M.
Suderman, M.
Hallett, M.
Kimmins, S.
TI Low paternal dietary folate alters the mouse sperm epigenome and is
associated with negative pregnancy outcomes
SO NATURE COMMUNICATIONS
LA English
DT Article
ID DNA METHYLATION; FOLIC-ACID; METHYLENETETRAHYDROFOLATE REDUCTASE;
HOMOCYSTEINE LEVELS; IMPRINTED GENES; CHROMATIN; NUTRITION; CELLS; MICE;
SPERMATOGENESIS
AB Epidemiological studies suggest that a father's diet can influence offspring health. A proposed mechanism for paternal transmission of environmental information is via the sperm epigenome. The epigenome includes heritable information such as DNA methylation. We hypothesize that the dietary supply of methyl donors will alter epigenetic reprogramming in sperm. Here we feed male mice either a folate-deficient or folate-sufficient diet throughout life. Paternal folate deficiency is associated with increased birth defects in the offspring, which include craniofacial and musculoskeletal malformations. Genome-wide DNA methylation analysis and the subsequent functional analysis identify differential methylation in sperm of genes implicated in development, chronic diseases such as cancer, diabetes, autism and schizophrenia. While 4300 genes are differentially expressed in offspring placenta, only two correspond to genes with differential methylation in sperm. This model suggests epigenetic transmission may involve sperm histone H3 methylation or DNA methylation and that adequate paternal dietary folate is essential for offspring health.
C1 [Lambrot, R.; Xu, C.; Saint-Phar, S.; Chountalos, G.; Cohen, T.; Kimmins, S.] McGill Univ, Dept Anim Sci, Ste Anne De Bellevue, PQ H9X 3V9, Canada.
[Paquet, M.] McGill Univ, Comparat Pathol Serv, Comparat Med & Anim Resources Ctr, Montreal, PQ H3G 1Y6, Canada.
[Suderman, M.; Hallett, M.] McGill Univ, Sch Comp Sci, McGill Ctr Bioinformat, Montreal, PQ H3G 0B1, Canada.
[Kimmins, S.] McGill Univ, Dept Pharmacol & Therapeut, Montreal, PQ H3G 1Y6, Canada.
RP Kimmins, S (reprint author), McGill Univ, Dept Anim Sci, Ste Anne De Bellevue, PQ H9X 3V9, Canada.
EM sarah.kimmins@mcgill.ca
FU Natural Sciences and Research Council of Canada; Canadian Institute of
Health Research; Genome Quebec; Reseau Quebecois en Reproduction; McGill
Center for the Study of Reproduction
FX We thank Drs Jacquetta Trasler and Rima Rozen (McGill University) for
their advice in the establishment of the folate diet animal model. We
also thank Dr Barbara Hales (McGill University) for her assistance in
identification and classification of the fetal abnormalities, Drs
Bernard Robaire (McGill University) and Geraldine Delbes (INRS) for
their assistance in the running of the COMET assays, Dr Katja Teerds
(University of Wageningen) for assistance with Leydig cell analysis and
Francois Lefebvre (Genome Quebec) for bioinformatic support. This
research was funded by The Natural Sciences and Research Council of
Canada (grant S. K.), the Canadian Institute of Health Research (S. K.)
and Genome Quebec(S. K.). R. L. held a fellowship from the Reseau
Quebecois en Reproduction (R. Q. R.) and George Chountalos from the
McGill Center for the Study of Reproduction (C. S. R.).
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NR 69
TC 23
Z9 23
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2041-1723
J9 NAT COMMUN
JI Nat. Commun.
PD DEC
PY 2013
VL 4
AR 2889
DI 10.1038/ncomms3889
PG 13
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 285LT
UT WOS:000329396200007
PM 24326934
ER
PT J
AU Engelhardt, CR
Mazurek, MO
Sohl, K
AF Engelhardt, Christopher R.
Mazurek, Micah O.
Sohl, Kristin
TI Media Use and Sleep Among Boys With Autism Spectrum Disorder, ADHD, or
Typical Development
SO PEDIATRICS
LA English
DT Article
DE media; sleep; bedroom access; television; video game; autism; autism
spectrum disorder; attention-deficit/hyperactivity disorder; ADHD
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; SCHOOL-AGED CHILDREN; VIDEO
GAME USE; COMPUTER GAME; PATTERNS; MELATONIN; IMPACT; TIME;
QUESTIONNAIRE; ADOLESCENTS
AB OBJECTIVE: The current study examined the relationships between media use (television, computer, and video games) and sleep among boys with autism spectrum disorder (ASD) compared with those with attention-deficit/ hyperactivity disorder (ADHD) or with typical development (TD).
METHODS: Participants included parents of boys with ASD (n = 49), ADHD (n = 38), or TD (n = 41) (ages 8-17 years). Questionnaires assessed daily hours of media use, bedroom access to media, and average sleep hours per night.
RESULTS: Bedroom media access was associated with less time spent sleeping per night, irrespective of diagnostic group. Bedroom access to a television or a computer was more strongly associated with reduced sleep among boys with ASD compared with boys with ADHD or TD. Multivariate models showed that, in addition to bedroom access, the amount of time spent playing video games was uniquely associated with less sleep among boys with ASD. In the ASD group only, the relationship between bedroom access to video games and reduced sleep was mediated by hours of video game play.
CONCLUSIONS: The current results suggest that media-related variables may be an important consideration in understanding sleep disturbances in children with ASD. Further research is needed to better characterize the processes by which media use may affect sleep among individuals with ASD. Overall, the current findings suggest that screen-based media time and bedroom media access should be routinely assessed and may be important intervention targets when addressing sleep problems in children with ASD.
C1 [Engelhardt, Christopher R.; Mazurek, Micah O.] Univ Missouri, Dept Hlth Psychol, Columbia, MO USA.
[Engelhardt, Christopher R.; Mazurek, Micah O.; Sohl, Kristin] Univ Missouri, Thompson Ctr Autism & Neurodev Disorders, Columbia, MO USA.
[Sohl, Kristin] Univ Missouri, Dept Child Hlth, Columbia, MO USA.
RP Engelhardt, CR (reprint author), Dept Hlth Psychol, 205 Portland St, Columbia, MO 65211 USA.
EM engelhardtc@health.missouri.edu
FU University of Missouri research board
FX All phases of this study were supported by a grant from the University
of Missouri research board.
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NR 63
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 DEC
PY 2013
VL 132
IS 6
BP 1081
EP 1089
DI 10.1542/peds.2013-2066
PG 9
WC Pediatrics
SC Pediatrics
GA 282IG
UT WOS:000329163900049
PM 24249825
ER
PT J
AU Garg, S
Green, J
Leadbitter, K
Emsley, R
Lehtonen, A
Evans, DG
Huson, SM
AF Garg, Shruti
Green, Jonathan
Leadbitter, Kathy
Emsley, Richard
Lehtonen, Annukka
Evans, D. Gareth
Huson, Susan M.
TI Neurofibromatosis Type 1 and Autism Spectrum Disorder
SO PEDIATRICS
LA English
DT Article
DE autism; neurofibromatosis type 1; population; epidemiology
ID PSYCHIATRIC COMORBIDITY; MOUSE MODEL; CHILDREN; POPULATION; DEFICITS;
PREVALENCE; INFORMATION; DIAGNOSIS; NF1; UK
AB OBJECTIVE: To determine the prevalence of autism spectrum disorder (ASD) in Neurofibromatosis Type 1 (NF1).
METHODS: Second-phase population-based epidemiologic study using an allcase NF1 registry in a defined UK 4.1 million population area. A total of 109 (52.7%) of 207 responders from the initial screening phase were grouped by using the parent-rated Social Responsiveness Scale (SRS) as significant ASD (SRS >= 76; n 5 32), moderate ASD (SRS >= 60<76; n = 29), or non-ASD (SRS <60, n 5 48). Twenty-three cases from the significant ASD group, 16 from moderate ASD, and 8 from non-ASD (total n = 47), invited proportionately by random selection, were seen for detailed confirmatory ascertainment. Assessments on Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Scale-Generic, and verbal IQ were combined by using standard Collaborative Program for Excellence in Autism criteria into an ASD categorization for each case (ASD, broad ASD with partial features, non-ASD). A preplanned weighted analysis was used to derive prevalence estimates for the whole population.
RESULTS: Fourteen (29.5%) of 47 showed ASD, 13 (27.7%) broad ASD, and 20 (42.5%) non-ASD. The ASD/broad ASD group showed male predominance (1.7:1.0), but did not differ significantly from the non-ASD group on IQ, age, socioeconomic status, inheritance, physical severity, or education. The population prevalence estimate is 24.9% ASD (95% confidence interval 13.1%-42.1%) and 20.8% broad ASD (95% confidence interval 10.0%-38.1%); a total of 45.7% showing some ASD spectrum phenotype.
CONCLUSIONS: Findings indicate high prevalence of ASD in NF1, with implications for clinical practice and further research into NF1 as a single-gene model for autism.
C1 [Garg, Shruti; Green, Jonathan; Leadbitter, Kathy] Univ Manchester, Inst Brain Behav & Mental Hlth, Manchester M13 9PL, Lancs, England.
[Emsley, Richard] Univ Manchester, Ctr Biostat, Inst Populat Hlth, Manchester M13 9PL, Lancs, England.
[Lehtonen, Annukka; Evans, D. Gareth; Huson, Susan M.] Cent Manchester Fdn Natl Hlth Serv Trust, Manchester Ctr Genom Med, Manchester, Lancs, England.
[Evans, D. Gareth; Huson, Susan M.] Univ Manchester, Manchester Ctr Genom Med, Inst Human Dev, Manchester M13 9PL, Lancs, England.
RP Green, J (reprint author), Univ Manchester, Room 4-308,Jean McFarlane Bldg,Oxford Rd, Manchester M13 9PL, Lancs, England.
EM jonathan.green@manchester.ac.uk
FU University of Manchester Biomedical Research Centre
[MH_RL_fellowship_JM_22092011]
FX All phases of this study were supported by the University of Manchester
Biomedical Research Centre through a Clinical Research Fellowship
awarded to Dr Garg (MH_RL_fellowship_JM_22092011). The funder had no
role in the design or conduct of the study or in the analysis,
interpretation of data, or preparation, review, or approval of the
manuscript.
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NR 40
TC 10
Z9 10
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 DEC
PY 2013
VL 132
IS 6
BP E1642
EP E1648
DI 10.1542/peds.2013-1868
PG 7
WC Pediatrics
SC Pediatrics
GA 282IG
UT WOS:000329163900023
PM 24190681
ER
PT J
AU Fu, WQ
O'Connor, TD
Akey, JM
AF Fu, Wenqing
O'Connor, Timothy D.
Akey, Joshua M.
TI Genetic architecture of quantitative traits and complex diseases
SO CURRENT OPINION IN GENETICS & DEVELOPMENT
LA English
DT Article
ID GENOME-WIDE ASSOCIATION; DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS;
MISSING HERITABILITY; CYSTIC-FIBROSIS; MENDELIAN DISEASE; BUDDING YEAST;
HUMAN EXOMES; HUMAN HEIGHT; EXPRESSION
AB More than 150 years after Mendel discovered the laws of heredity, the genetic architecture of phenotypic variation remains elusive. Here, we discuss recent progress in deciphering how genotypes map onto phenotypes, sources of genetic complexity, and how model organisms are illuminating general principles about the relationship between genetic and phenotypic variation. Moreover, we highlight insights gleaned from large-scale sequencing studies in humans, and how this knowledge informs outstanding questions about the genetic architecture of quantitative traits and complex diseases. Finally, we articulate how the confluence of technologies enabling whole-genome sequencing, comprehensive phenotyping, and high-throughput functional assays of polymorphisms will facilitate a more principled and mechanistic understanding of the genetic architecture of phenotypic variation.
C1 [Fu, Wenqing; O'Connor, Timothy D.; Akey, Joshua M.] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA.
RP Akey, JM (reprint author), Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA.
EM akeyj@u.washington.edu
FU NIH [GM094810, GM098360, HL106034]
FX This work was supported in part by NIH grants GM094810, GM098360, and
HL106034 to JMA.
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NR 57
TC 1
Z9 1
PU CURRENT BIOLOGY LTD
PI LONDON
PA 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND
SN 0959-437X
EI 1879-0380
J9 CURR OPIN GENET DEV
JI Curr. Opin. Genet. Dev.
PD DEC
PY 2013
VL 23
IS 6
BP 678
EP 683
DI 10.1016/j.gde.2013.10.008
PG 6
WC Cell Biology; Genetics & Heredity
SC Cell Biology; Genetics & Heredity
GA 280CO
UT WOS:000329006500012
PM 24287334
ER
PT J
AU Siniscalco, D
Antonucci, N
AF Siniscalco, Dario
Antonucci, Nicola
TI Involvement of Dietary Bioactive Proteins and Peptides in Autism
Spectrum Disorders
SO CURRENT PROTEIN & PEPTIDE SCIENCE
LA English
DT Review
DE Autism; dietary proteins; bioactive peptides
ID TO-BRAIN CONNECTION; OPIOID-PEPTIDES; MILK-PROTEINS; LACTOFERRIN;
CHILDREN; GLUTATHIONE; FOOD; INTERVENTION; DIRECTIONS; PATHWAYS
AB Autism and autism spectrum disorders (ASDs) are heterogeneous, severe neurodevelopmental pathologies. These enigmatic conditions have their origins in the interaction of multiple genes and environmental factors. Dysfunctions in social interactions and communication skills, restricted interests, repetitive and stereotypic verbal and non-verbal behaviours are the main core symptoms. Several biochemical processes are associated with ASDs: oxidative stress; endoplasmic reticulum stress; decreased methylation capacity; limited production of glutathione; mitochondrial dysfunction; intestinal impaired permeability and dysbiosis; increased toxic metal burden; immune dysregulation. Current available treatments for ASDs can be divided into behavioural, nutritional and medical approaches, although no defined standard approach exists.
Dietary bioactive proteins and peptides show potential for application as health-promoting agents. Nowadays, increasing studies highlight a key role of bioactive proteins and peptides in ASDs. This review will focus on the state-of-the-art regarding the involvement of dietary bioactive proteins and peptides in ASDs. Identification of novel therapeutic targets for ASD management will be also discussed.
C1 [Siniscalco, Dario] Univ Naples 2, Dept Expt Med, I-80138 Naples, Italy.
[Siniscalco, Dario] Ctr Autism Forza Silenzio, Caserta, Italy.
[Siniscalco, Dario] Cancellautismo, Florence, Italy.
[Antonucci, Nicola] Biomed Ctr Autism Res & Treatment, Bari, Italy.
RP Siniscalco, D (reprint author), Univ Naples 2, Div Pharmacol, Dept Expt Med, Via S Maria di Costantinopoli 16, I-80138 Naples, Italy.
EM dariosin@uab.edu
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NR 79
TC 2
Z9 2
PU BENTHAM SCIENCE PUBL LTD
PI SHARJAH
PA EXECUTIVE STE Y-2, PO BOX 7917, SAIF ZONE, 1200 BR SHARJAH, U ARAB
EMIRATES
SN 1389-2037
EI 1875-5550
J9 CURR PROTEIN PEPT SC
JI Curr. Protein Pept. Sci.
PD DEC
PY 2013
VL 14
IS 8
BP 674
EP 679
PG 6
WC Biochemistry & Molecular Biology
SC Biochemistry & Molecular Biology
GA 281TY
UT WOS:000329125100005
PM 24106964
ER
PT J
AU Gu, F
Chauhan, V
Chauhan, A
AF Gu, Feng
Chauhan, Ved
Chauhan, Abha
TI Impaired synthesis and antioxidant defense of glutathione in the
cerebellum of autistic subjects: Alterations in the activities and
protein expression of glutathione-related enzymes
SO FREE RADICAL BIOLOGY AND MEDICINE
LA English
DT Article
DE Autism; Brain; Cerebellum; Glutathione; Glutamate cysteine ligase;
Glutathione peroxidase; Glutathione reductase; Glutathione
S-transferase; Oxidative stress
ID GAMMA-GLUTAMYLCYSTEINE SYNTHETASE; AMINO-ACID-SEQUENCE; OXIDATIVE
STRESS; SPECTRUM DISORDERS; METABOLIC BIOMARKERS; MITOCHONDRIAL
GLUTATHIONE; ALZHEIMERS-DISEASE; LIPID-PEROXIDATION; REDOX IMBALANCE;
SERUM-LEVELS
AB Autism is a neurodevelopmental disorder associated with social deficits and behavioral abnormalities. Recent evidence in autism suggests a deficit in glutathione (GSH), a major endogenous antioxidant. It is not known whether the synthesis, consumption, and/or regeneration of GSH is affected in autism. In the cerebellum tissues from autism (n=10) and age-matched control subjects (n=10), the activities of GSH-related enzymes glutathione peroxidase (GPx), glutathione-S-transferase (GST), glutathione reductase (GR), and glutamate cysteine ligase (GCL) involved in antioxidant defense, detoxification, GSH regeneration, and synthesis, respectively, were analyzed. GCL is a rate-limiting enzyme for GSH synthesis, and the relationship between its activity and the protein expression of its catalytic subunit GCLC and its modulatory subunit GCLM was also compared between the autistic and the control groups. Results showed that the activities of GPx and GST were significantly decreased in autism compared to that of the control group (P<0.05). Although there was no significant difference in GR activity between autism and control groups, 40% of autistic subjects showed lower GR activity than 95% confidence interval (CI) of the control group. GCL activity was also significantly reduced by 38.7% in the autistic group compared to the control group (P=0.023), and 8 of 10 autistic subjects had values below 95% CI of the control group. The ratio of protein levels of GCLC to GCLM in the autism group was significantly higher than that of the control group (P=0.022), and GCLM protein levels were reduced by 37.3% in the autistic group compared to the control group. A positive strong correlation was observed between GCL activity and protein levels of GCLM (r=0.887) and GCLC (r=0.799) subunits in control subjects but not in autistic subjects, suggesting that regulation of GCL activity is affected in autism. These results suggest that enzymes involved in GSH homeostasis have impaired activities in the cerebellum in autism, and lower GCL activity in autism may be related to decreased protein expression of GCLM. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Gu, Feng; Chauhan, Ved; Chauhan, Abha] NYS Inst Basic Res Dev Disabil, Staten Isl, NY 10314 USA.
RP Chauhan, A (reprint author), NYS Inst Basic Res Dev Disabil, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA.
EM abha.chauhan@opwdd.ny.gov
FU Department of Defense Autism Spectrum Disorders Research Program
[AS073224P2]; Autism Research Institute; NYS Office for People with
Developmental Disabilities
FX Human brain tissues were obtained from the NICHD Brain and Tissue Bank
for Developmental Disorders at the University of Maryland, Baltimore,
MD. This work was supported by funds from the Department of Defense
Autism Spectrum Disorders Research Program AS073224P2, the Autism
Research Institute, and the NYS Office for People with Developmental
Disabilities.
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NR 93
TC 11
Z9 11
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0891-5849
EI 1873-4596
J9 FREE RADICAL BIO MED
JI Free Radic. Biol. Med.
PD DEC
PY 2013
VL 65
BP 488
EP 496
DI 10.1016/j.freeradbiomed.2013.07.021
PG 9
WC Biochemistry & Molecular Biology; Endocrinology & Metabolism
SC Biochemistry & Molecular Biology; Endocrinology & Metabolism
GA 278DI
UT WOS:000328868900048
PM 23892356
ER
PT J
AU Lee, Y
Jeong, SW
Kim, LS
AF Lee, Youngmee
Jeong, Sung-Wook
Kim, Lee-Suk
TI AAC intervention using a VOCA for deaf children with multiple
disabilities who received cochlear implantation
SO INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
LA English
DT Article
DE Children; Cochlear implants; Multiple disabilities; Intervention;
Augmentative and alternative communication; Voice output communication
aid
ID OUTPUT COMMUNICATION AID; ALTERNATIVE COMMUNICATION;
LANGUAGE-DEVELOPMENT; SPEECH-PERCEPTION; AUTISM; PERFORMANCE; STUDENTS
AB Objectives: The aim of this study was to examine the efficacy of a new habilitation approach, augmentative and alternative communication (AAC) intervention using a voice output communication aid (VOCA), in improving speech perception, speech production, receptive vocabulary skills, and communicative behaviors in children with cochlear implants (CIs) who had multiple disabilities.
Methods: Five children with mental retardation and/or cerebral palsy who had used CIs over two years were included in this study. Five children in the control group were matched to children who had AAC intervention on the basis of the type/severity of their additional disabilities and chronological age. They had limited oral communication skills after cochlear implantation because of their limited cognition and oromotor function. The children attended the AAC intervention with parents once a week for 6 months. We evaluated their performance using formal tests, including the monosyllabic word tests, the articulation test, and the receptive vocabulary test. We also assessed parent-child interactions. We analyzed the data using a one-group pretest and posttest design.
Results: The mean scores of the formal tests performed in these children improved from 26% to 48% in the phoneme scores of the monosyllabic word tests, from 17% to 35% in the articulation test, and from 11 to 18.4 in the receptive vocabulary test after AAC intervention (all p < .05). Some children in the control group showed improvement in the speech perception, speech production, and receptive vocabulary tests for 6 months, but the differences did not achieve statistical significance (all p > .05). The frequency of spontaneous communicative behaviors (i.e., vocalization, gestures, and words) and imitative words significantly increased after AAC intervention (p < .05).
Conclusions: AAC intervention using a VOCA was very useful and effective on improving communicative skills in children with multiple disabilities who had very limited oral communication skills after cochlear implantation. (C) 2013 Published by Elsevier Ireland Ltd.
C1 [Lee, Youngmee] Woosong Univ, Dept Speech Language Therapy & Aural Rehabil, Taejon, South Korea.
[Jeong, Sung-Wook; Kim, Lee-Suk] Dong A Univ, Coll Med, Dept Otolaryngol Head & Neck Surg, Pusan 602715, South Korea.
RP Kim, LS (reprint author), Dong A Univ, Coll Med, Dept Otolaryngol Head & Neck Surg, 3-1 Dongdaeshin Dong, Pusan 602715, South Korea.
EM klsolkor@chol.com
FU Dong-A University
FX We are grateful to the children, their parents, and the staff at Dong-A
Hearing and Speech-Language Center for their commitment to the study.
This study was supported by research funds from Dong-A University.
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NR 20
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-5876
EI 1872-8464
J9 INT J PEDIATR OTORHI
JI Int. J. Pediatr. Otorhinolaryngol.
PD DEC
PY 2013
VL 77
IS 12
BP 2008
EP 2013
DI 10.1016/j.ijporl.2013.09.023
PG 6
WC Otorhinolaryngology; Pediatrics
SC Otorhinolaryngology; Pediatrics
GA 278EB
UT WOS:000328870800020
PM 24140395
ER
PT J
AU Kern, P
Rivera, NR
Chandler, A
Humpal, M
AF Kern, Petra
Rivera, Nicole R.
Chandler, Alie
Humpal, Marcia
TI Music Therapy Services for Individuals with Autism Spectrum Disorder: A
Survey of Clinical Practices and Training Needs
SO JOURNAL OF MUSIC THERAPY
LA English
DT Article
DE music therapy; autism spectrum disorder; survey research; national
assessment; clinical practices; training needs
ID SCERTS MODEL; CHILDREN
AB Background: Over the past decade, the definitions, diagnoses, prevalence rates, theories about the causes, evidence-based treatment options, and practice guidelines pertaining to Autism Spectrum Disorder (ASD) have undergone numerous changes. While several recent studies evaluate the effects of music therapy interventions for individuals with ASD, no current review reflects the latest music therapy practices and trends.
Objectives: The purpose of this study was to evaluate the status of music therapy practices for serving clients with ASD, the implementation of national ASD standards and guidelines, the awareness of recent developments, and training needs of music therapists.
Method: Professional members of the American Music Therapy Association who are working with individuals with ASD served as the sample for this national cross-sectional survey study (N = 328). A 45-item online questionnaire was designed and distributed through email and social media. Participants accessed the online survey through SurveyMonkey (R).
Results: Findings suggest music therapy practices and services for individuals with ASD have shifted and now reflect a slightly higher percentage of caseload, a broader age range of clients, and a trend to serve clients in home and community settings. Most therapeutic processes align with recommended practices for ASD and incorporate several of the recognized evidence-based practices. Less understood or recognized are inclusion practices and latest developments in the field of ASD.
Conclusions: Music therapists have a solid understanding of providing services for individuals with ASD, but would benefit from advanced online training and improved information dissemination to stay current with the rapidly changing aspects pertinent to this population.
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[Kern, Petra] Marylhurst Univ, Portland, OR USA.
[Kern, Petra] Univ Louisville, Louisville, KY 40292 USA.
[Rivera, Nicole R.] North Cent Coll, Naperville, IL USA.
[Chandler, Alie] Ossia Mus Therapy Serv, Chapel Hill, NC USA.
[Humpal, Marcia] AMTA Strateg Prior Mus Therapy & ASD Workgrp, Silver Spring, MD USA.
RP Kern, P (reprint author), Mus Therapy Consulting, Santa Barbara, CA USA.
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NR 37
TC 1
Z9 1
PU NATL ASSOC MUSIC THERAPY INC
PI SILVER SPRING
PA 8455 COLESVILLE RD, STE 1000, SILVER SPRING, MD 20910 USA
SN 0022-2917
J9 J MUSIC THER
JI J. Music Ther.
PD WIN
PY 2013
VL 50
IS 4
BP 274
EP 303
PG 30
WC Music; Rehabilitation
SC Music; Rehabilitation
GA 278XL
UT WOS:000328923100002
PM 25014668
ER
PT J
AU Orme, DR
Trapane, P
AF Orme, Daniel R.
Trapane, Pamela
TI Dysmorphology: Why Is It Important to Practicing Psychologists?
SO PROFESSIONAL PSYCHOLOGY-RESEARCH AND PRACTICE
LA English
DT Article
DE dysmorphology; minor physical anomalies; psychopathology; development;
cognitive
ID MINOR PHYSICAL ANOMALIES; ALCOHOL SPECTRUM DISORDERS; 22Q11 DELETION
SYNDROME; CARDIO-FACIAL-SYNDROME; VELOCARDIOFACIAL SYNDROME;
NEUROPSYCHOLOGICAL PROFILE; CHILDHOOD AUTISM; CHILDREN; SCHIZOPHRENIA;
ADOLESCENTS
AB Human malformations are the end result of abnormal fetal development and have been associated with a range of complications including medical, psychiatric, and developmental. Surprisingly, dysmorphology, the study of human congenital malformations, is given scant attention by the psychology profession. Psychologists would do well to be familiar with a full range of causes of emotional and cognitive variability, including those sometimes associated with dysmorphology. Consequently, we present a brief overview of dysmorphology for psychologists and make a case for incorporating this into clinical psychological training curriculums, textbooks, continuing education programs, and practice.
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[Trapane, Pamela] Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA.
RP Orme, DR (reprint author), VA Outpatient Clin, 520 10th Ave, Coralville, IA 52241 USA.
EM daniel.orme@va.gov
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NR 81
TC 0
Z9 0
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0735-7028
EI 1939-1323
J9 PROF PSYCHOL-RES PR
JI Prof. Psychol.-Res. Pract.
PD DEC
PY 2013
VL 44
IS 6
BP 398
EP 404
DI 10.1037/a0035109
PG 7
WC Psychology, Multidisciplinary
SC Psychology
GA 281RX
UT WOS:000329119800005
ER
PT J
AU Chaboub, LS
Deneen, B
AF Chaboub, Lesley S.
Deneen, Benjamin
TI Astrocyte Form and Function in the Developing Central Nervous System
SO SEMINARS IN PEDIATRIC NEUROLOGY
LA English
DT Review
ID BLOOD-BRAIN-BARRIER; FIBRILLARY ACIDIC PROTEIN; SPINAL-CORD; CNS
SYNAPTOGENESIS; PROTOPLASMIC ASTROCYTES; CELL-PROLIFERATION;
ENDOTHELIAL-CELLS; NEURAL-TUBE; IN-VITRO; GLIA
AB Astrocytes have long been forgotten entities in our quest to understand brain function. Over the last few decades, there has been an exponential increase in our knowledge of central nervous system (CNS) function, and, consequently, astrocytes have emerged as key figures in CNS physiology and disease. Indeed, several pediatric neurologic disorders have recently been linked to astrocyte dysregulation, including leukodystrophies, autism spectrum disorders, and epilepsy. Given that pediatric disorders are rooted in developmental processes, the goal of this review is to catalog what we know about astrocyte development and function in the developing CNS. Moreover, we highlight current challenges and questions that remain in the field about astrocyte development. Our hope is that this review illuminates the potential of astrocytes and their associated developmental and physiological functions as potential therapeutic targets for the treatment of neurologic disorders. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Chaboub, Lesley S.; Deneen, Benjamin] Baylor Coll Med, Program Dev Biol, Houston, TX 77030 USA.
[Chaboub, Lesley S.; Deneen, Benjamin] Baylor Coll Med, Ctr Cell & Gene Therapy, Houston, TX 77030 USA.
[Deneen, Benjamin] Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA.
RP Chaboub, LS (reprint author), Baylor Coll Med, Program Dev Biol, 1 Baylor Plaza, Houston, TX 77030 USA.
EM deneen@bcm.edu
FU Cancer Prevention and Research Institute of Texas [RP101499]; Sontag
Foundation; National Institutes of Health [R01-NS071153]
FX We apologize to those whose work we could not cite owing to space
limitations. This work was supported by funding from the Cancer
Prevention and Research Institute of Texas RP101499 (L.S.C.), Sontag
Foundation (B.D.), and National Institutes of Health R01-NS071153
(B.D.).
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NR 52
TC 2
Z9 2
PU W B SAUNDERS CO-ELSEVIER INC
PI PHILADELPHIA
PA 1600 JOHN F KENNEDY BOULEVARD, STE 1800, PHILADELPHIA, PA 19103-2899 USA
SN 1071-9091
EI 1558-0776
J9 SEMIN PEDIATR NEUROL
JI Semin. Pediatr. Neurol.
PD DEC
PY 2013
VL 20
IS 4
BP 230
EP 235
DI 10.1016/j.spen.2013.10.003
PG 6
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 280AI
UT WOS:000329000600002
PM 24365570
ER
PT J
AU Williams, D
Jarrold, C
AF Williams, David
Jarrold, Christopher
TI Assessing Planning and Set-Shifting Abilities in Autism: Are
Experimenter-Administered and Computerised Versions of Tasks Equivalent?
SO AUTISM RESEARCH
LA English
DT Article
DE autism; executive functioning; planning; set-shifting; Wisconsin Card
Sorting Test; Tower of London task
ID CARD SORTING TEST; SPECTRUM DISORDERS; DIAGNOSTIC INTERVIEW; CHILDREN
AB Across studies, analysis of performance on classic measures of executive functioning (EF) among individuals with autism spectrum disorder (ASD) suggests that people with this disorder may be impaired only when tasks are experimenter-administered, but not when the same tasks are computer-administered. This would imply that the underlying cause of apparent executive dysfunction in ASD is a diminished ability to engage with another person/comprehend what another person expects, rather than a diminution of the control processes that typically underpin EF task performance. However, this suggestion is limited because, to our knowledge, no study has directly compared the equivalence of computer-administered and standard experimenter-administered versions of EF tasks that have been presented in counterbalanced order among a common sample of individuals with ASD. In the current study, 21 children with ASD and 22 age- and intelligence quotient (IQ)-matched comparison participants completed, in counterbalanced order, computerised and manual versions of both a planning task and a cognitive flexibility/set-shifting task. Contrary to expectation, results indicated that participants with ASD were equally impaired in terms of the key dependent variable on standard and computerised versions of both tasks. Practically, these results suggest that computer-administered and experimenter-administered versions of planning and set-shifting tasks are equivalent among individuals with ASD and can be used interchangeably in studies of EF among this population. Theoretically, these results challenge the notion that poor performance on EF tasks among school-aged children with ASD is only the result of a limited ability to engage with a human experimenter/comprehend socially presented rules. Autism Res 2013, 6: 461-647. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Williams, David] Univ Durham, Dept Psychol, Durham DH1 3LE, England.
[Jarrold, Christopher] Univ Bristol, Sch Expt Psychol, Bristol, Avon, England.
RP Williams, D (reprint author), Univ Kent, Sch Psychol, Canterbury CT2 7NP, Kent, England.
EM d.m.williams@kent.ac.uk
FU Economic and Social Research Council UK [RES-000-22-4125]
FX This study was funded by an Economic and Social Research Council UK
Grant awarded to David Williams and Christopher Jarrold
(RES-000-22-4125). Published online 26 July 2013 in Wiley Online Library
(wileyonlinelibrary.com)
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World Health Organization, 1993, INT CLASS MENT BEH D
NR 26
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD DEC
PY 2013
VL 6
IS 6
BP 461
EP 467
DI 10.1002/aur.1311
PG 7
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 274PG
UT WOS:000328617900001
PM 23893967
ER
PT J
AU Tager-Flusberg, H
Kasari, C
AF Tager-Flusberg, Helen
Kasari, Connie
TI Minimally Verbal School-Aged Children with Autism Spectrum Disorder: The
Neglected End of the Spectrum
SO AUTISM RESEARCH
LA English
DT Review
DE behavioral intervention < intervention; early intervention <
intervention; school age < pediatrics; spoken language; minimally verbal
ASD; alternative and augmentative communication; eye-tracking
ID COMMUNICATION-SYSTEM PECS; EVENT-RELATED POTENTIALS; DEVELOPMENTAL
DELAYS; LANGUAGE ASSESSMENT; JOINT ATTENTION; YOUNG-CHILDREN; BRAIN
ACTIVITY; EYE-TRACKING; SPEECH; INTERVENTIONS
AB It is currently estimated that about 30% of children with autism spectrum disorder remain minimally verbal, even after receiving years of interventions and a range of educational opportunities. Very little is known about the individuals at this end of the autism spectrum, in part because this is a highly variable population with no single set of defining characteristics or patterns of skills or deficits, and in part because it is extremely challenging to provide reliable or valid assessments of their developmental functioning. In this paper, we summarize current knowledge based on research including minimally verbal children. We review promising new novel methods for assessing the verbal and nonverbal abilities of minimally verbal school-aged children, including eye-tracking and brain-imaging methods that do not require overt responses. We then review what is known about interventions that may be effective in improving language and communication skills, including discussion of both nonaugmentative and augmentative methods. In the final section of the paper, we discuss the gaps in the literature and needs for future research. Autism Res 2013, 6: 468-478. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Tager-Flusberg, Helen] Boston Univ, Dept Psychol, Boston, MA 02215 USA.
[Tager-Flusberg, Helen] Boston Univ, Dept Anat & Neurobiol, Boston, MA 02215 USA.
[Kasari, Connie] Univ Calif Los Angeles, Grad Sch Educ, Los Angeles, CA 90024 USA.
RP Tager-Flusberg, H (reprint author), Boston Univ, Dept Psychol, 64 Cummington St, Boston, MA 02215 USA.
EM htagerf@bu.edu
FU National Institutes of Health (NIH) [NIDCD RO1 DC 10290-S1, P50 DC
13027, NIMH R01 MH084864]; Autism Speaks [2468]; Autism Speaks Hi
Risk/Hi Impact [5666]; HRSA [UA3MC11055]
FX Support for preparation of this paper was provided by grants from the
National Institutes of Health (NIH) (NIDCD RO1 DC 10290-S1; P50 DC
13027) and Autism Speaks (#2468) to HTF and NIH (NIMH R01 MH084864),
Autism Speaks Hi Risk/Hi Impact (#5666) and HRSA (UA3MC11055) to C.K.
Published online 7 October 2013 in Wiley Online Library
(wileyonlinelibrary.com)
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NR 67
TC 10
Z9 10
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD DEC
PY 2013
VL 6
IS 6
BP 468
EP 478
DI 10.1002/aur.1329
PG 11
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 274PG
UT WOS:000328617900002
PM 24124067
ER
PT J
AU Kasari, C
Brady, N
Lord, C
Tager-Flusberg, H
AF Kasari, Connie
Brady, Nancy
Lord, Catherine
Tager-Flusberg, Helen
TI Assessing the Minimally Verbal School-Aged Child With Autism Spectrum
Disorder
SO AUTISM RESEARCH
LA English
DT Review
DE minimally verbal; school-aged children; assessment; communication
ID PERVASIVE DEVELOPMENTAL DISORDERS; YOUNG-CHILDREN; JOINT ATTENTION;
SYMBOLIC PLAY; COMMUNICATIVE COMPETENCES; SOCIAL COMMUNICATION;
DIAGNOSTIC INTERVIEW; EXPRESSIVE LANGUAGE; PREDICTIVE-VALIDITY;
PRESCHOOL-CHILDREN
AB This paper addresses the issue of assessing communication, language, and associated cognitive and behavioral abilities of minimally verbal children with autism spectrum disorder (ASD), presenting a summary of a year-long series of meetings held by a group of experts in the field of ASD and National Institutes of Health staff. In this paper, our goals were to first define the population and then present general guidelines for optimizing assessment sessions for this challenging population. We then summarize the available measures that can be used across a variety of behavioral domains that are most directly relevant to developing language skills, including oral motor skills, vocal repertoire, receptive and expressive language, imitation, intentional communication, play, social behavior, repetitive and sensory behaviors, and nonverbal cognition. We conclude with a discussion of some of the limitations in the available measures and highlight recommendations for future research in this area. Autism Res 2013, 6: 479-493. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Kasari, Connie] Univ Calif Los Angeles, Dept Human Dev & Psychol, Los Angeles, CA 90024 USA.
[Kasari, Connie] Univ Calif Los Angeles, Ctr Autism Res & Treatment, Los Angeles, CA 90024 USA.
[Brady, Nancy] Univ Kansas, Dept Psychol, Lawrence, KS 66045 USA.
[Lord, Catherine] Cornell Weill Med Ctr, Dept Psychiat, New York, NY USA.
[Tager-Flusberg, Helen] Boston Univ, Dept Psychol, Boston, MA 02215 USA.
RP Kasari, C (reprint author), Univ Calif Los Angeles, Ctr Autism Res & Treatment, Semel Inst 68 268, Los Angeles, CA 90024 USA.
EM ckasari@mednet.ucla.edu
FU NIH [NIDCD RO1 DC 10290-S1, NIMH R01 MH084864]; Autism Speaks [2468];
Autism Speaks Hi Risk/Hi Impact [5666]; HRSA [UA3MC11055]
FX Support for preparation of this paper was provided by grants from NIH
(NIDCD RO1 DC 10290-S1) and Autism Speaks (#2468) to HTF and NIH (NIMH
R01 MH084864), Autism Speaks Hi Risk/Hi Impact (#5666) and HRSA
(UA3MC11055) to CK.
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NR 87
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD DEC
PY 2013
VL 6
IS 6
BP 479
EP 493
DI 10.1002/aur.1334
PG 15
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 274PG
UT WOS:000328617900003
PM 24353165
ER
PT J
AU Faja, S
Murias, M
Beauchaine, TP
Dawson, G
AF Faja, Susan
Murias, Michael
Beauchaine, Theodore P.
Dawson, Geraldine
TI Reward-Based Decision Making and Electrodermal Responding by Young
Children with Autism Spectrum Disorders during a Gambling Task
SO AUTISM RESEARCH
LA English
DT Article
DE autism; reward; executive function; decision making; repetitive
behavior; internalizing; electrodermal response
ID VENTROMEDIAL PREFRONTAL CORTEX; SKIN-CONDUCTANCE ANALYSIS; EXECUTIVE
FUNCTION; HEART-RATE; AMYGDALA; ADOLESCENTS; BEHAVIOR; CONSEQUENCES;
METAANALYSIS; PERFORMANCE
AB In this study, we explore reward-based decision making and electrodermal responding (EDR) among children with autism spectrum disorder (ASD) during a children's gambling task. In addition, we examine whether individual behavioral and EDR responses predict social communication, repetitive symptoms, parent reports of executive function, and behavioral challenges. The ability to form advantageous strategies for long-term gain is of interest for children with ASD, who exhibit both difficulty with executive function and atypical responses to reward. Twenty-one children ages 6-7 years with ASD and no intellectual disability, and 21 age- and IQ-matched typically developing children participated. Both groups exhibited a similar pattern of gambling selections, but children with ASD showed less knowledge of the reward contingencies of the decks after playing. In addition, although EDR was similar between groups in anticipation of selections, children with ASD exhibited greater EDR during feedback about rewards as the task progressed. Children with ASD who exhibited the greatest increases in EDR were more likely to exhibit repetitive symptoms, particularly rituals and the need for sameness, as well as internalizing behaviors and reduced executive function in other settings. Autism Res 2013, 6: 494-505. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Faja, Susan; Murias, Michael] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA.
[Beauchaine, Theodore P.] Ohio State Univ, Dept Psychol, Columbus, OH 43210 USA.
[Dawson, Geraldine] Duke Univ, Dept Psychiat & Behav Sci, Durham, NC USA.
RP Faja, S (reprint author), Univ Washington, Dept Psychiat & Behav Sci, Box 357920, Seattle, WA 98195 USA.
EM susfaja@uw.edu
FU American Psychological Association Dissertation Award; International
Society of Autism Research Dissertation Award; Robert C. Bolles Graduate
Fellowship; Cure Autism Now Young Investigator Award
FX Grant sponsors: American Psychological Association Dissertation Award
(S. F.), International Society of Autism Research Dissertation Award (S.
F.), Robert C. Bolles Graduate Fellowship (S. F.), and Cure Autism Now
Young Investigator Award (M.M.).
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NR 62
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD DEC
PY 2013
VL 6
IS 6
BP 494
EP 505
DI 10.1002/aur.1307
PG 12
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 274PG
UT WOS:000328617900004
PM 23893954
ER
PT J
AU Schneider, K
Regenbogen, C
Pauly, KD
Gossen, A
Schneider, DA
Mevissen, L
Michel, TM
Gur, RC
Habel, U
Schneider, F
AF Schneider, Karla
Regenbogen, Christina
Pauly, Katharina D.
Gossen, Anna
Schneider, Daniel A.
Mevissen, Lea
Michel, Tanja M.
Gur, Ruben C.
Habel, Ute
Schneider, Frank
TI Evidence for Gender-Specific Endophenotypes in High-Functioning Autism
Spectrum Disorder During Empathy
SO AUTISM RESEARCH
LA English
DT Article
DE autism; empathy; gender differences; fMRI; social interactions
ID MIRROR-NEURON SYSTEM; FACIAL EXPRESSIONS; ASPERGER SYNDROME;
SEX-DIFFERENCES; EARLY-CHILDHOOD; BRAIN; GIRLS; MIND; ALEXITHYMIA;
ATTENTION
AB Despite remarkable behavioral gender differences in patients with autism spectrum disorder (ASD), and growing evidence for a diminished male:female ratio for the putative male disorder ASD, aspects of gender are not addressed accordingly in ASD research. Our study aims at filling this gap by exploring empathy abilities in a group of 28 patients with high-functioning ASD and 28 gender-, age- and education-matched non-autistic subjects, for the first time by means of functional neuroimaging (fMRI). In an event-related fMRI paradigm, emotional (E) and neutral (N) video clips presented actors telling self-related short stories. After each clip, participants were asked to indicate their own emotion and its intensity as well as the emotion and intensity perceived for the actor. Behaviorally, we found significantly less empathic responses in the overall ASD group compared with non-autistic subjects, and inadequate emotion recognition for the neutral clips in the female ASD group compared with healthy women. Neurally, increased activation of the bilateral medial frontal gyrus was found in male patients compared with female patients, a pattern which was not present in the non-autistic group. Additionally, autistic women exhibited decreased activation of midbrain and limbic regions compared with non-autistic women, whereas there was no significant difference within the male group. While we did not find a fundamental empathic deficit in autistic patients, our data propose different ways of processing empathy in autistic men and women, suggesting stronger impairments in cognitive aspects of empathy/theory of mind for men, and alterations of social reciprocity for women. Autism Res 2013, 6: 506-521. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Schneider, Karla; Regenbogen, Christina; Pauly, Katharina D.; Gossen, Anna; Schneider, Daniel A.; Mevissen, Lea; Michel, Tanja M.; Habel, Ute; Schneider, Frank] Rhein Westfal TH Aachen, Sch Med, Dept Psychiat Psychotherapy & Psychosomat, D-52074 Aachen, Germany.
[Schneider, Karla; Regenbogen, Christina; Pauly, Katharina D.; Gossen, Anna; Schneider, Daniel A.; Habel, Ute; Schneider, Frank] JARA Translat Brain Med, Aachen, Germany.
[Gur, Ruben C.; Schneider, Frank] Univ Penn, Dept Psychiat, Perelman Sch Med, Philadelphia, PA 19104 USA.
[Gur, Ruben C.; Schneider, Frank] Philadelphia Vet Adm Med Ctr, Philadelphia, PA USA.
[Michel, Tanja M.] Univ Rostock, Dept Psychiat & Psychotherapy, D-18055 Rostock, Germany.
RP Schneider, K (reprint author), Rhein Westfal TH Aachen, Dept Psychiat Psychotherapy & Psychosomat, Pauwelsstr 30, D-52074 Aachen, Germany.
EM karla.schneider@rwth-aachen.de
FU German Research Foundation (DFG, International Research Training Group
1328: "Brain-behavior relationship of emotion and social cognition in
schizophrenia and autism") [KFO 112, HA 3202/7-1]; Interdisciplinary
Center for Clinical Research of the Medical Faculty of the RWTH Aachen
University [IZKF, N2-6]
FX 1. Grant sponsor: German Research Foundation (DFG, International
Research Training Group 1328: "Brain-behavior relationship of emotion
and social cognition in schizophrenia and autism") Grant Number: KFO 112
and HA 3202/7-12. Grant sponsor: Interdisciplinary Center for Clinical
Research of the Medical Faculty of the RWTH Aachen University Grant
number: IZKF, N2-6
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NR 87
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD DEC
PY 2013
VL 6
IS 6
BP 506
EP 521
DI 10.1002/aur.1310
PG 16
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 274PG
UT WOS:000328617900005
PM 23868876
ER
PT J
AU Stewart, HJ
McIntosh, RD
Williams, JHG
AF Stewart, Hannah J.
McIntosh, Rob D.
Williams, Justin H. G.
TI A Specific Deficit of Imitation in Autism Spectrum Disorder
SO AUTISM RESEARCH
LA English
DT Article
DE social cognition; clinical psychology; cognitive neuroscience;
developmental psychology; psychopathology
ID DEVELOPMENTAL DISORDER; MIRROR NEURONS; MOVEMENT; ASPERGER; GESTURES;
CHILDREN; BRAIN; SELF
AB Imitation is a potentially crucial aspect of social cognitive development. Although deficits in imitation ability have been widely demonstrated in autism spectrum disorder (ASD), the specificity and significance of the findings is unclear, due largely to methodological limitations. We developed a novel assessment of imitation ability, using objective movement parameters (path length and action duration) derived from a touch-sensitive tablet laptop during drawing actions on an identical tablet. By direct comparison of the kinematics of a model's actions with those of the participant who observed them, measures of imitation accuracy were obtained. By replaying the end-point of the movement as a spot on the screen, imitation accuracy was compared against a ghost control condition, with no human actor but only the end-point of the movement seen [object movement reenactment (OMR)]. Hence, demands of the control task were closely matched to the experimental task with respect to motor, memory, and attentional abilities. Adolescents with ASD showed poorer accuracy for copying object size and action duration on both the imitation and OMR tasks, but were significantly more impaired for imitation of object size. Our results provide evidence that some of the imitation deficit in ASD is specific to a self-other mapping problem, and cannot be explained by general factors such as memory, spatial reasoning, motor control, or attention, nor related to the social demands of the testing situation. Autism Res 2013, 6: 522-530. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Stewart, Hannah J.] MRC Inst Hearing Res, Nottingham, England.
[McIntosh, Rob D.] Univ Edinburgh, Edinburgh, Midlothian, Scotland.
[Williams, Justin H. G.] Univ Aberdeen, Sch Med, Royal Cornhill Hosp, Clin Res Ctr, Aberdeen AB25 2ZH, Scotland.
RP Williams, JHG (reprint author), Univ Aberdeen, Sch Med, Royal Cornhill Hosp, Clin Res Ctr, Cornhill Rd, Aberdeen AB25 2ZH, Scotland.
EM justin.williams@abdn.ac.uk
FU Northwood Trust
FX JHGW is funded by the Northwood Trust. We are very grateful to Maria
Parker and the MICAS base at Dyce Academy, the children and parents who
volunteered their participation in this study, James Cusack for help
with recruitment, and to Louisa Miller and Lorcan Kenny for excellent
help with stimulus design and creation.
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NR 48
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD DEC
PY 2013
VL 6
IS 6
BP 522
EP 530
DI 10.1002/aur.1312
PG 9
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 274PG
UT WOS:000328617900006
PM 24124055
ER
PT J
AU Manning, C
Charman, T
Pellicano, E
AF Manning, Catherine
Charman, Tony
Pellicano, Elizabeth
TI Processing Slow and Fast Motion in Children With Autism Spectrum
Conditions
SO AUTISM RESEARCH
LA English
DT Article
DE autism; speed discrimination; motion coherence; visual motion processing
ID VISUAL-MOTION; GLOBAL-MOTION; CONTRAST SENSITIVITY; SPEED
DISCRIMINATION; BIOLOGICAL MOTION; PERCEPTION; DISORDERS; INFORMATION;
COHERENCE; MODEL
AB Consistent with the dorsal stream hypothesis, difficulties processing dynamic information have previously been reported in individuals with autism spectrum conditions (ASC). However, no research has systematically compared motion processing abilities for slow and fast speeds. Here, we measured speed discrimination thresholds and motion coherence thresholds in slow (1.5deg/sec) and fast (6deg/sec) speed conditions in children with an ASC aged 7 to 14 years, and age- and ability-matched typically developing children. Unexpectedly, children with ASC were as sensitive as typically developing children to differences in speed at both slow and fast reference speeds. Yet, elevated motion coherence thresholds were found in children with ASC, but in the slow stimulus speed condition only. Rather than having pervasive difficulties in motion processing, as predicted by the dorsal stream hypothesis, these results suggest that children with ASC have a selective difficulty in extracting coherent motion information specifically at slow speeds. Understanding the effects of stimulus parameters such as stimulus speed will be important for resolving discrepancies between previous studies examining motion coherence thresholds in ASC and also for refining theoretical models of altered autistic perception. Autism Res 2013, 6: 531-541. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Manning, Catherine; Pellicano, Elizabeth] Univ London, Inst Educ, Dept Psychol & Human Dev, CRAE, London WC1N 1AZ, England.
[Charman, Tony] Kings Coll London, Inst Psychiat, Dept Psychol, London WC2R 2LS, England.
[Pellicano, Elizabeth] Univ Western Australia, Sch Psychol, Perth, WA 6009, Australia.
RP Manning, C (reprint author), Inst Educ, Dept Psychol & Human Dev, CRAE, 55-59 Gordon Sq, London WC1H 0NU, England.
EM c.manning@ioe.ac.uk
RI Charman, Tony/A-2085-2014
OI Charman, Tony/0000-0003-1993-6549
FU Economic and Social Research Council (ESRC); Clothworkers' Foundation;
Pears Foundation
FX Many thanks to David Aagten-Murphy, David Burr, and Marco Cicchini for
assistance with programming and experimental design and to the schools,
participants, and parents who generously took part in this research. C.
M. was supported by an Economic and Social Research Council (ESRC) PhD
studentship. Research at CRAE is supported by The Clothworkers'
Foundation and Pears Foundation.
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NR 73
TC 5
Z9 5
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD DEC
PY 2013
VL 6
IS 6
BP 531
EP 541
DI 10.1002/aur.1309
PG 11
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 274PG
UT WOS:000328617900007
PM 23847052
ER
PT J
AU Coskun, MA
Loveland, KA
Pearson, DA
Papanicolaou, AC
Sheth, BR
AF Coskun, Mehmet A.
Loveland, Katherine A.
Pearson, Deborah A.
Papanicolaou, Andrew C.
Sheth, Bhavin R.
TI Interaction of Finger Representations in the Cortex of Individuals with
Autism: A Functional Window into Cortical Inhibition
SO AUTISM RESEARCH
LA English
DT Article
DE evoked potentials; homeostasis; somatosensory cortex; cortical
interaction; finger representation; source modeling; tactile
ID DEVELOPMENTAL NEUROBIOLOGY; EVOKED POTENTIALS; SPECTRUM DISORDER;
CONNECTIVITY; RESPONSES; CHILDREN; STIMULI; DIGITS; ADULTS; MODEL
AB An established neural biomarker of autism spectrum disorder (ASD) has the potential to provide novel biological and pharmacological targets for treatment. Lower level of inhibition in brain circuits is a leading biomarker candidate. A physiological investigation of the functional levels of inhibition in the cortex of individuals with autism can provide a strong test of the hypothesis. The amplitude of cortical response to the stimulation of adjacent fingers is controlled by the level of cortical inhibition and provides just such a test. Using magnetoencephalography, we recorded the response of the somatosensory cortex to the passive tactile stimulation of the thumb (D1), and index finger (D2), and to the simultaneous stimulation of both fingers combined (D1,D2) of the dominant (right) hand of young subjects with and without autism. For each participant, we measured the response to the stimulation of both fingers combined (D1,D2) relative to the post hoc sum of the responses to the stimulation of each finger alone (D1+D2) in multiple different ways and linearly regressed the ASD and neurotypical (NT) groups' responses. The resulting slopes were then compared: Smaller slope values imply attenuated response to paired finger stimulation, and enhanced levels of inhibition. The short-latency M40 and mid-latency M80 response slopes of the group with autism obtained in different ways were either significantly smaller, or statistically indistinguishable from NT. The result does not support reduced inhibition in the somatosensory cortex of individuals with autism, contrary to the seminal hypothesis of reduced inhibition. Implications are discussed including refinements of current theory. Autism Res 2013, 6: 542-549. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Coskun, Mehmet A.; Sheth, Bhavin R.] Univ Houston, Dept Elect & Comp Engn, Houston, TX 77204 USA.
[Loveland, Katherine A.; Pearson, Deborah A.] Univ Texas Hlth Sci Ctr Houston, Dept Psychiat & Behav Sci, Houston, TX 77030 USA.
[Papanicolaou, Andrew C.] Univ Texas Hlth Sci Ctr Houston, Dept Pediat, Houston, TX 77030 USA.
[Sheth, Bhavin R.] Univ Houston, Ctr NeuroEngn & Cognit Syst, Houston, TX 77204 USA.
RP Sheth, BR (reprint author), Univ Houston, N308, Houston, TX 77204 USA.
EM brsheth@uh.edu
FU National Alliance for Autism Research-Autism Speaks; University of
Houston; NIH [P01 HD035471, R01 MH072263]
FX The authors report no competing interests. The research was supported by
a grant from the National Alliance for Autism Research-Autism Speaks
(BRS). MAC was supported in part by a Presidential fellowship from the
University of Houston. KAL and DAP were supported by the NIH: P01
HD035471 (KAL) and R01 MH072263 (DAP).
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NR 32
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD DEC
PY 2013
VL 6
IS 6
BP 542
EP 549
DI 10.1002/aur.1314
PG 8
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 274PG
UT WOS:000328617900008
PM 23983203
ER
PT J
AU Arkush, L
Smith-Collins, APR
Fiorentini, C
Skuse, DH
AF Arkush, Leo
Smith-Collins, Adam P. R.
Fiorentini, Chiara
Skuse, David H.
TI Recognition of Face and Non-Face Stimuli in Autistic Spectrum Disorder
SO AUTISM RESEARCH
LA English
DT Article
DE autism; ASD; face expertise; face recognition memory; Warrington
Recognition Memory Test
ID PERVASIVE DEVELOPMENTAL DISORDERS; FUNCTIONING AUTISM; FAMILIAR FACE;
CHILDREN; MEMORY; INDIVIDUALS; PATTERNS; OBJECTS; PROSOPAGNOSIA;
IMPAIRMENT
AB The ability to remember faces is critical for the development of social competence. From childhood to adulthood, we acquire a high level of expertise in the recognition of facial images, and neural processes become dedicated to sustaining competence. Many people with autism spectrum disorder (ASD) have poor face recognition memory; changes in hairstyle or other non-facial features in an otherwise familiar person affect their recollection skills. The observation implies that they may not use the configuration of the inner face to achieve memory competence, but bolster performance in other ways. We aimed to test this hypothesis by comparing the performance of a group of high-functioning unmedicated adolescents with ASD and a matched control group on a surprise face recognition memory task. We compared their memory for unfamiliar faces with their memory for images of houses. To evaluate the role that is played by peripheral cues in assisting recognition memory, we cropped both sets of pictures, retaining only the most salient central features. ASD adolescents had poorer recognition memory for faces than typical controls, but their recognition memory for houses was unimpaired. Cropping images of faces did not disproportionately influence their recall accuracy, relative to controls. House recognition skills (cropped and uncropped) were similar in both groups. In the ASD group only, performance on both sets of task was closely correlated, implying that memory for faces and other complex pictorial stimuli is achieved by domain-general (non-dedicated) cognitive mechanisms. Adolescents with ASD apparently do not use domain-specialized processing of inner facial cues to support face recognition memory. Autism Res 2013, 6: 550-560. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Arkush, Leo; Smith-Collins, Adam P. R.; Skuse, David H.] UCL, Inst Child Hlth, London WC1N 1EH, England.
[Smith-Collins, Adam P. R.] Univ Bristol, St Michaels Hosp, Sch Clin Sci, Dept Neonatal Neurosci, Bristol, Avon, England.
[Fiorentini, Chiara] Univ Geneva, Swiss Ctr Affect Sci, Geneva, Switzerland.
RP Skuse, DH (reprint author), UCL, Inst Child Hlth, 30 Guilford St, London WC1N 1EH, England.
EM dskuse@ich.ucl.ac.uk
FU INCORE [043318]; GEBACO [028696]; Swiss National Science Foundation
(FNS)
FX Grant sponsors: INCORE, grant number: 043318; GEBACO, grant number:
028696; C. F. was supported by a Swiss National Science Foundation (FNS)
Fellowship for young researchers during the period of this research.
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NR 50
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD DEC
PY 2013
VL 6
IS 6
BP 550
EP 560
DI 10.1002/aur.1318
PG 11
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 274PG
UT WOS:000328617900009
PM 23894016
ER
PT J
AU Lo, YC
Chou, TL
Fan, LY
Gau, SSF
Chiu, YN
Tseng, WYI
AF Lo, Yu-Chun
Chou, Tai-Li
Fan, Li-Ying
Gau, Susan Shur-Fen
Chiu, Yen-Nan
Tseng, Wen-Yih Isaac
TI Altered Structure-Function Relations of Semantic Processing in Youths
with High-Functioning Autism: A Combined Diffusion and Functional MRI
Study
SO AUTISM RESEARCH
LA English
DT Article
DE autism; dual stream model; diffusion spectrum imaging; functional MRI;
tractography
ID SPECTRUM DISORDERS; EARLY LANGUAGE; PSYCHOMETRIC PROPERTIES; PREFRONTAL
CORTEX; CHINESE VERSION; WHITE-MATTER; CHILDREN; ADOLESCENTS;
ACTIVATION; SYNCHRONIZATION
AB Deficits in language and communication are among the core symptoms of autism, a common neurodevelopmental disorder with long-term impairment. Despite the striking nature of the autistic language impairment, knowledge about its corresponding alterations in the brain is still evolving. We hypothesized that the dual stream language network is altered in autism, and that this alteration could be revealed by changes in the relationships between microstructural integrity and functional activation. The study recruited 20 right-handed male youths with autism and 20 carefully matched individually, typically developing (TD) youths. Microstructural integrity of the left dorsal and left ventral pathways responsible for language processing and the functional activation of the connected brain regions were investigated by using diffusion spectrum imaging and functional magnetic resonance imaging of a semantic task, respectively. Youths with autism had significantly poorer language function, and lower functional activation in left dorsal and left ventral regions of the language network, compared with TD youths. The TD group showed a significant correlation of the functional activation of the left dorsal region with microstructural integrity of the left ventral pathway, whereas the autism group showed a significant correlation of the functional activation of the left ventral region with microstructural integrity of the left dorsal pathway, and moreover verbal comprehension index was correlated with microstructural integrity of the left ventral pathway. These altered structure-function relationships in autism suggest possible involvement of the dual pathways in supporting deficient semantic processing. Autism Res 2013, 6: 561-570. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Lo, Yu-Chun; Gau, Susan Shur-Fen] Natl Taiwan Univ, Coll Med, Dept Psychiat, Taipei 10051, Taiwan.
[Lo, Yu-Chun; Tseng, Wen-Yih Isaac] Natl Taiwan Univ, Coll Med, Ctr Optoelect Med, Taipei 10051, Taiwan.
[Chou, Tai-Li; Gau, Susan Shur-Fen; Tseng, Wen-Yih Isaac] Natl Taiwan Univ, Grad Inst Brain & Mind Sci, Taipei 10051, Taiwan.
[Chou, Tai-Li; Fan, Li-Ying; Gau, Susan Shur-Fen] Natl Taiwan Univ, Dept Psychol, Taipei 10051, Taiwan.
[Chou, Tai-Li; Gau, Susan Shur-Fen; Tseng, Wen-Yih Isaac] Natl Taiwan Univ, Neurobiol & Cognit Sci Ctr, Taipei 10051, Taiwan.
[Gau, Susan Shur-Fen; Chiu, Yen-Nan] Natl Taiwan Univ Hosp, Dept Psychiat, Taipei 10002, Taiwan.
[Tseng, Wen-Yih Isaac] Natl Taiwan Univ Hosp, Dept Med Imaging, Taipei 10002, Taiwan.
RP Tseng, WYI (reprint author), Natl Taiwan Univ, Coll Med, Ctr Optoelect Biomed, 1,Sec 1,Jen Ai Rd, Taipei 10051, Taiwan.
EM gaushufe@ntu.edu.tw; wytseng@ntu.edu.tw
FU National Science Council, Taiwan [NSC99-2321-B-002-037,
NSC100-2321-B-002-015, NSC97-3112-B-002-009, NSC98-3112-B-002-004,
NSC99-2627-B-002-015, NSC99-2627-B-002-016, NSC100-2627-B-002-013];
National Taiwan University Hospital [NTUH101-S1910]; Department of
Medical Imaging, National Taiwan University Hospital, Taipei, Taiwan
FX This work was supported by the National Science Council, Taiwan
(NSC99-2321-B-002-037, NSC100-2321-B-002-015 to Dr. W-Y. Tseng;
NSC97-3112-B-002-009, NSC98-3112-B-002-004, NSC99-2627-B-002-015 to Dr.
S. S-F. Gau; and NSC99-2627-B-002-016, NSC100-2627-B-002-013 to Dr. T-L.
Chou) and National Taiwan University Hospital (NTUH101-S1910), and
partly by the Department of Medical Imaging, National Taiwan University
Hospital, Taipei, Taiwan. We thank all of the participants for their
involvement in this study.
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NR 56
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD DEC
PY 2013
VL 6
IS 6
BP 561
EP 570
DI 10.1002/aur.1315
PG 10
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 274PG
UT WOS:000328617900010
PM 23853172
ER
PT J
AU Oblak, A
Gibbs, TT
Blatt, GJ
AF Oblak, Adrian
Gibbs, Terrell T.
Blatt, Gene J.
TI Reduced Serotonin Receptor Subtypes in a Limbic and a Neocortical Region
in Autism
SO AUTISM RESEARCH
LA English
DT Article
DE autism; serotonin; 5-HT1A receptors; 5-HT2A receptors; 5-HT
transporters; pharmacotherapy; selective serotonin reuptake inhibitors
(SSRI)
ID WHOLE-BLOOD SEROTONIN; PERVASIVE DEVELOPMENTAL DISORDERS; FUSIFORM
GYRUS; SPECTRUM DISORDERS; 1ST-DEGREE RELATIVES; PLATELET SEROTONIN;
CINGULATE CORTEX; YOUNG-CHILDREN; BINDING; ADULTS
AB Autism is a behaviorally defined, neurological disorder with symptom onset before the age of 3. Abnormalities in social-emotional behaviors are a core deficit in autism, and are characterized by impaired reciprocal-social interaction, lack of facial expressions, and the inability to recognize familiar faces. The posterior cingulate cortex (PCC) and fusiform gyrus (FG) are two regions within an extensive limbic-cortical network that contribute to social-emotional behaviors. Evidence indicates that changes in brains of individuals with autism begin prenatally. Serotonin (5-HT) is one of the earliest expressed neurotransmitters, and plays an important role in synaptogenesis, neurite outgrowth, and neuronal migration. Abnormalities in 5-HT systems have been implicated in several psychiatric disorders, including autism, as evidenced by immunology, imaging, genetics, pharmacotherapy, and neuropathology. Although information is known regarding peripheral 5-HT in autism, there is emerging evidence that 5-HT systems in the central nervous system, including various 5-HT receptor subtypes and transporters, are affected in autism. The present study demonstrated significant reductions in 5-HT1A receptor-binding density in superficial and deep layers of the PCC and FG, and in the density of 5-HT2A receptors in superficial layers of the PCC and FG. A significant reduction in the density of serotonin transporters (5-HTT) was also found in the deep layers of the FG, but normal levels were demonstrated in both layers of the PCC and superficial layers of the FG. This study provides potential substrates for decreased 5-HT modulation/innervation in the autism brain, and implicate two 5-HT receptor subtypes as potential neuromarkers for novel or existing pharmacotherapies. Autism Res 2013, 6: 571-583. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Oblak, Adrian; Blatt, Gene J.] Boston Univ, Sch Med, Dept Anat & Neurobiol, Boston, MA 02118 USA.
[Gibbs, Terrell T.] Boston Univ, Sch Med, Dept Pharmacol & Expt Therapeut, Boston, MA 02118 USA.
RP Oblak, A (reprint author), Boston Univ, Sch Med, Dept Anat & Neurobiol, 700 Albany St,W-701, Boston, MA 02118 USA.
EM aoblak@bu.edu
FU National Institutes of Health [NIH U54 MH66398]; Nancy Lurie Marks
Foundation; Hussman Foundation
FX This work was supported by a Studies to Advance Autism Research and
Treatment (STAART) grant from the National Institutes of Health (NIH U54
MH66398), The Nancy Lurie Marks Foundation, and The Hussman Foundation.
Human tissue was obtained from the Harvard Brain Tissue Resource Center,
The Autism Tissue Program (ATP), The Autism Research Foundation (TARF),
and the NICHD Brain and Tissue Bank for Developmental Disorders at The
University of Maryland, Baltimore.
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NR 68
TC 5
Z9 5
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD DEC
PY 2013
VL 6
IS 6
BP 571
EP 583
DI 10.1002/aur.1317
PG 13
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 274PG
UT WOS:000328617900011
PM 23894004
ER
PT J
AU Joseph, L
Thurm, A
Farmer, C
Shumway, S
AF Joseph, Lisa
Thurm, Audrey
Farmer, Cristan
Shumway, Stacy
TI Repetitive Behavior and Restricted Interests in Young Children with
Autism: Comparisons with Controls and Stability Over 2 Years
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorders; repetitive behaviors; young children;
trajectory
ID SPECTRUM DISORDERS; ADOS SCORES; FOLLOW-UP; AGE; TRAJECTORIES;
ASSOCIATION; SEVERITY; SYMPTOMS; TODDLERS; INFANTS
AB Restricted, repetitive and stereotyped patterns of behavior, interests and activities [RRBs] are among the core symptoms of autism spectrum disorders (ASD). Previous studies have indicated that RRBs differentiate ASD from other developmental disorders and from typical development. This study examined the presentation of RRBs as reported on the Repetitive Behavior Scale-Revised, a caregiver report, in children with ASD [separated into autism and Pervasive Developmental Disorder-Not Otherwise Specified groups] compared with children with nonspectrum developmental delays or typical development. We examined the role of age, cognitive functioning, sex and social communication impairment as they relate to RRBs. The stability of RRBs in children with autism was also examined over the course of 2 years. Results of the study confirmed that the amount and type of RRBs differs by diagnosis. Age, cognitive functioning, sex and social-communication impairment were not significant correlates. Among children with autism, RRBs remained stable over time. Autism Res 2013, 6: 584-595. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Joseph, Lisa; Thurm, Audrey; Farmer, Cristan; Shumway, Stacy] NIH, Pediat & Dev Neurosci Branch, Bethesda, MD 20892 USA.
RP Joseph, L (reprint author), NIMH, Pediat & Dev Neurosci Branch, 10 Ctr Dr,MSC 1255,Bldg 10,Room 1C250, Bethesda, MD 20892 USA.
EM jlisa@mail.nih.gov
FU National Institute of Mental Health [NIMH] [NCT 00271622, 06-M-0065, NCT
NCT00298246, 06-M-0102]
FX This research was supported by the Intramural Program of the National
Institute of Mental Health [NIMH], studies NCT 00271622, 06-M-0065 and
NCT NCT00298246, 06-M-0102. The views expressed in this article do not
necessarily represent the views of the NIMH, NIH, HHS, or the United
Stated Government. The authors extend our gratitude for the children and
their families who volunteered their time and efforts during this
research.
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NR 40
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD DEC
PY 2013
VL 6
IS 6
BP 584
EP 595
DI 10.1002/aur.1316
PG 12
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 274PG
UT WOS:000328617900012
PM 23868881
ER
PT J
AU Ben-Itzchak, E
Ben-Shachar, S
Zachor, DA
AF Ben-Itzchak, Esther
Ben-Shachar, Shay
Zachor, Ditza A.
TI Specific Neurological Phenotypes in Autism Spectrum Disorders Are
Associated with Sex Representation
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorder; male:female ratio; microcephaly; macrocephaly;
developmental regression, minor neurological and musculoskeletal
deficits, seizures
ID HEAD CIRCUMFERENCE; BRAIN OVERGROWTH; EPILEPSY; CHILDREN; REGRESSION;
CONNECTIVITY; PREVALENCE; FEATURES; TIME; EEG
AB Autism spectrum disorder (ASD) is a heritable disorder occurring predominantly in males. The aim of this study was to compare sex differences in the prevalence of specific neurological phenotypes commonly described in ASD. The study included 663 participants, aged 18 months to 15 years, diagnosed with ASD. Neurological and behavioral assessments were performed using standardized tests, and obtaining medical, developmental, and familial histories from the parents. Phenotypes under investigation were macro- and microcephaly, developmental regression, minor neurological and musculoskeletal deficits (MNMD), and seizures. Male:female ratio in the ASD group was 6.7:1. No sex differences in autism severity, cognitive ability, and adaptive functioning were noted. Mean head circumference percentile for males (50.1 +/- 25.6) was significantly larger than females (43.4 +/- 30.2). Micro- and macrocephaly were more frequent in ASD than expected (5.9%; 18.1%, respectively). Microcephaly in females (15.1%) was significantly more prevalent than in males (4.5%). The prevalence of macrocephaly in both sexes did not differ significantly. Regression was noted in 30.2% of the females with ASD, significantly higher than in males (18.9%). MNMD was documented in 73.8% of the females, significantly higher than in males (57.1%). M:F ratio decreased in a group with two or more phenotypes (3.6:1), while male predominance was more significant in the group without phenotypes (13.6:1). Neurological phenotypes associated with ASD are more prevalent in females than in males, resulting in more complex clinical and neurological manifestations in females. Therefore, involvement of different etiologies is suggested in ASD in females. Autism Res 2013, 6: 596-604. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Ben-Itzchak, Esther] Ariel Univ Ctr Samaria, Dept Commun Disorders, Ariel, Israel.
[Ben-Itzchak, Esther; Zachor, Ditza A.] Assaf Harofeh Med Ctr, Autism Ctr, Dept Pediat, IL-70300 Zerifin, Israel.
[Ben-Shachar, Shay] Tel Aviv Univ, Tel Aviv Sourasky Med Ctr, Genet Inst, IL-69978 Tel Aviv, Israel.
[Zachor, Ditza A.] Tel Aviv Univ, IL-69978 Tel Aviv, Israel.
RP Ben-Itzchak, E (reprint author), Assaf Harofeh Med Ctr, Autism Ctr, IL-70300 Zerifin, Israel.
EM benitze@ariel.ac.il
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NR 53
TC 6
Z9 6
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD DEC
PY 2013
VL 6
IS 6
BP 596
EP 604
DI 10.1002/aur.1319
PG 9
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 274PG
UT WOS:000328617900013
PM 23873852
ER
PT J
AU Eigsti, IM
Fein, DA
AF Eigsti, Inge-Marie
Fein, Deborah A.
TI More Is Less: Pitch Discrimination and Language Delays in Children with
Optimal Outcomes from Autism
SO AUTISM RESEARCH
LA English
DT Article
DE language; language delays; auditory perception; autism; long-term
outcomes
ID ENGLISH-LEARNING INFANTS; SPECTRUM DISORDERS; REPETITIVE BEHAVIORS; HEAD
CIRCUMFERENCE; SPEECH; ABILITY; SEGMENTATION; IMPAIRMENT; INDIVIDUALS;
SENSITIVITY
AB The autism spectrum disorders (ASD) are neurodevelopmental disorders diagnosed behaviorally but associated with differences in brain development. Individuals with ASD exhibit superior auditory perceptual skills, which may correlate with ASD symptomatology, particularly language skills. We describe findings from individuals diagnosed with ASD before age five, who now have no symptoms (e.g., having optimal outcomes). Unlike an ASD group, which shows heightened pitch discrimination, the Optimal Outcome group's abilities do not differ from those of typically developing controls. Furthermore, pitch discrimination is associated with both current autism symptomatology and early-language milestones. Findings illuminate processes associated with resolution of autism. We also discuss a specific mechanism by which heightened auditory discrimination leads to language delays in ASD. Autism Res 2013, 6: 605-613. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Eigsti, Inge-Marie; Fein, Deborah A.] Univ Connecticut, Dept Psychol, Storrs, CT 06269 USA.
RP Eigsti, IM (reprint author), Univ Connecticut, 406 Babbidge Rd,Unit 1020, Storrs, CT 06269 USA.
EM inge-marie.eigsti@uconn.edu
FU NIMH [R01 MH076189-01A1]
FX Research supported by funding from NIMH R01 MH076189-01A1 to DF. None of
the authors declares a conflict of interest. A number of research
assistants were instrumental in data collection, including Eva Troyb,
Alyssa Orinstein, Katherine Tyson, Molly Helt, and Michael Rosenthal,
and we acknowledge their contributions. We gratefully acknowledge the
time and effort of participating families and their children.
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NR 55
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD DEC
PY 2013
VL 6
IS 6
BP 605
EP 613
DI 10.1002/aur.1324
PG 9
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 274PG
UT WOS:000328617900014
PM 23929787
ER
PT J
AU Haffey, A
Press, C
O'Connell, G
Chakrabarti, B
AF Haffey, Anthony
Press, Clare
O'Connell, Garret
Chakrabarti, Bhismadev
TI Autistic Traits Modulate Mimicry of Social but not Nonsocial Rewards
SO AUTISM RESEARCH
LA English
DT Article
DE reward; imitation; social; nonsocial; autism; empathy; mimicry
ID EMOTIONAL FACIAL EXPRESSIONS; AUTOMATIC IMITATION; SPECTRUM DISORDERS;
FUNCTIONING AUTISM; ASPERGER-SYNDROME; EMPATHY; CHILDREN; MECHANISMS;
QUOTIENT; FACE
AB Autism Spectrum Conditions (ASC) are associated with diminished responsiveness to social stimuli, and especially to social rewards such as smiles. Atypical responsiveness to social rewards, which reinforce socially appropriate behavior in children, can potentially lead to a cascade of deficits in social behavior. Individuals with ASC often show diminished spontaneous mimicry of social stimuli in a natural setting. In the general population, mimicry is modulated both by the reward value and the sociality of the stimulus (i.e., whether the stimulus is perceived to belong to a conspecific or an inanimate object). Since empathy and autistic traits are distributed continuously in the general population, this study aimed to test if and how these traits modulated automatic mimicry of rewarded social and nonsocial stimuli. High and low rewards were associated with human and robot hands using a conditioned learning paradigm. Thirty-six participants from the general population then completed a mimicry task involving performing a prespecified hand movement which was either compatible or incompatible with a hand movement presented to the participant. High autistic traits (measured using the Autism Spectrum Quotient, AQ) predicted lesser mimicry of high-reward than low-reward conditioned human hands, whereas trait empathy showed an opposite pattern of correlations. No such relations were observed for high-reward vs. low-reward conditioned robot hands. These results demonstrate how autistic traits and empathy modulate the effects of reward on mimicry of social compared to nonsocial stimuli. This evidence suggests a potential role for the reward system in underlying the atypical social behavior in individuals with ASC, who constitute the extreme end of the spectrum of autistic traits. Autism Res 2013, 6: 614-620. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Haffey, Anthony; Press, Clare; O'Connell, Garret; Chakrabarti, Bhismadev] Univ Reading, Sch Psychol & Clin Language Sci, Ctr Integrat Neurosci & Neurodynam, Reading RG6 6AL, Berks, England.
[Press, Clare] Univ London, Birkbeck Coll, Dept Psychol Sci, London, England.
RP Chakrabarti, B (reprint author), Univ Reading, Sch Psychol & Clin Language Sci, Ctr Integrat Neurosci & Neurodynam, Reading RG6 6AL, Berks, England.
EM b.chakrabarti@reading.ac.uk
FU MRC; ESRC-MRC; University of Reading
FX BC is supported by an MRC New Investigator Research Grant. ATH is
supported by an ESRC-MRC Interdisciplinary studentship. GO'C is
supported by a University of Reading studentship. We are grateful to
Thomas Sims, Carien van Reekum, and Tom Johnstone for helpful
discussions. Data reported in this paper is available from
www.bhismalab.org/publications
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NR 39
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD DEC
PY 2013
VL 6
IS 6
BP 614
EP 620
DI 10.1002/aur.1323
PG 7
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 274PG
UT WOS:000328617900015
PM 23939872
ER
PT J
AU Levin-Decanini, T
Maltman, N
Francis, SM
Guter, S
Anderson, GM
Cook, EH
Jacob, S
AF Levin-Decanini, Tal
Maltman, Nell
Francis, Sunday M.
Guter, Steve
Anderson, George M.
Cook, Edwin H.
Jacob, Suma
TI Parental Broader Autism Subphenotypes in ASD Affected Families:
Relationship to Gender, Child's Symptoms, SSRI Treatment, and Platelet
Serotonin
SO AUTISM RESEARCH
LA English
DT Article
DE broader autism phenotype; serotonin; autism; SSRI
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS;
MULTIPLE-INCIDENCE; 1ST-DEGREE RELATIVES; REPETITIVE BEHAVIOR; TWIN
PAIRS; DIAGNOSTIC INTERVIEW; MENTAL-RETARDATION; BLOOD SEROTONIN;
WHOLE-BLOOD
AB Relationships between parental broader autism phenotype (BAP) scores, gender, selective serotonin reuptake inhibitor (SSRI) treatment, serotonin (5HT) levels, and the child's symptoms were investigated in a family study of autism spectrum disorder (ASD). The Broader Autism Phenotype Questionnaire (BAPQ) was used to measure the BAP of 275 parents. Fathers not taking SSRIs (F-SSRI; n=115) scored significantly higher on BAP Total and Aloof subscales compared to mothers not receiving treatment (M-SSRI; n=136.) However, mothers taking SSRIs (M+SSRI; n=19) scored higher than those not taking medication on BAP Total and Rigid subscales, and they were more likely to be BAPQ Total, Aloof, and Rigid positive. Significant correlations were noted between proband autism symptoms and parental BAPQ scores such that Total, Aloof, and Rigid subscale scores of F-SSRI correlated with proband restricted repetitive behavior (RRB) measures on the ADOS, CRI, and RBS-R. However, only the Aloof subscale score of M+SSRI correlated with proband RRB on the ADOS. The correlation between the BAPQ scores of mothers taking SSRIs and child scores, as well as the increase in BAPQ scores of this group of mothers, requires careful interpretation and further study because correlations would not withstand multiple corrections. As expected by previous research, significant parent-child correlations were observed for 5HT levels. However, 5HT levels were not correlated with behavioral measures. Study results suggest that the expression of the BAP varies not only across parental gender, but also across individuals using psychotropic medication and those who do not. Autism Res 2013, 6: 621-630. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Levin-Decanini, Tal; Maltman, Nell; Francis, Sunday M.; Guter, Steve; Cook, Edwin H.] Univ Illinois, Dept Psychiat, Chicago, IL 60612 USA.
[Anderson, George M.] Yale Univ, Sch Med, Dept Child Psychiat, New Haven, CT USA.
[Anderson, George M.] Yale Univ, Sch Med, Dept Lab Med, New Haven, CT 06510 USA.
[Jacob, Suma] Univ Minnesota, Dept Psychiat, Minneapolis, MN 55455 USA.
RP Jacob, S (reprint author), Univ Minnesota, Wallin Med Biosci Bldg,2101 6th St SE, Minneapolis, MN 55455 USA.
EM sjacob@umn.edu
FU NIH Autism Center of Excellence [P50 HD055751, K23MH082121]
FX This work was supported in part by NIH Autism Center of Excellence P50
HD055751 (EHC) and K23MH082121 (SJ).
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NR 55
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD DEC
PY 2013
VL 6
IS 6
BP 621
EP 630
DI 10.1002/aur.1322
PG 10
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 274PG
UT WOS:000328617900016
PM 23956104
ER
PT J
AU Yager, J
Iarocci, G
AF Yager, Jodi
Iarocci, Grace
TI The Development of the Multidimensional Social Competence Scale: A
Standardized Measure of Social Competence in Autism Spectrum Disorders
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorders; social competence; multidimensional social
competence scale; psychometric properties
ID INTERPERSONAL COMPETENCE; CHILDREN; BEHAVIOR; CLASSIFICATION
AB Autism and its related disorders are commonly described as lying along a continuum that ranges in severity and are collectively referred to as autism spectrum disorders (ASDs). Although all individuals with ASD meet the social impairment diagnostic criteria outlined in the DSM-IV-TR, they do not present with the same social difficulties. The variability in the expression and severity of social competence is particularly evident among the group of individuals with high-functioning ASD who appear to have difficulty applying their average to above average intelligence in a social context. There is a striking paucity of empirical research investigating individual differences in social functioning among individuals with high-functioning ASD. It is possible that more detailed investigations of social competence have been impeded by the lack of standardized measures available to assess the nature and severity of social impairment. The aim of the current study was to develop and evaluate a parent rating scale capable of assessing individual differences in social competence (i.e. strengths and challenges) among adolescents with ASD: the Multidimensional Social Competence Scale (MSCS). Results from confirmatory factor analyses supported the hypothesized multidimensional factor structure of the MSCS. Seven relatively distinct domains of social competence were identified including social motivation, social inferencing, demonstrating empathic concern, social knowledge, verbal conversation skills, nonverbal sending skills, and emotion regulation. Psychometric evidence provided preliminary support for the reliability and validity of the scale. Possible applications of this promising new parent rating scale in both research and clinical settings are discussed. Autism Res 2013, 6: 631-641. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Yager, Jodi; Iarocci, Grace] Simon Fraser Univ, Autism & Dev Disorders Lab, Burnaby, BC V5A 1S6, Canada.
RP Yager, J (reprint author), Simon Fraser Univ, Autism & Dev Disorders Lab, 8888 Univ Dr, Burnaby, BC V5A 1S6, Canada.
EM jyager@sfu.ca
FU Autism Research Training Program; Canadian Institutes of Health Research
(CIHR); National Alliance for Autism Research (NAAR); Fonds de la
recherche en sante due Quebec (FRSQ); Social Sciences and Humanities
Research Council of Canada (SSHRC); Michael Smith Foundation for Health
Research (MSFHR); Human Early Learning Partnership (HELP); Laurel
Foundation; SSHRC; MSFHR
FX Jodi Yager's work on this study was supported by doctoral fellowships
from the Autism Research Training Program (jointly funded by Canadian
Institutes of Health Research (CIHR), National Alliance for Autism
Research (NAAR), and Fonds de la recherche en sante due Quebec (FRSQ)),
the Social Sciences and Humanities Research Council of Canada (SSHRC),
the Michael Smith Foundation for Health Research (MSFHR), and the Human
Early Learning Partnership (HELP). This research was also supported by a
research grant from the Laurel Foundation, the SSHRC, and an MSFHR
scholar award to Grace Iarocci. We express our deep gratitude to the
adolescents and families who participated in this study. We also thank
our lab volunteers, Krista Johnston, Vanessa Vondruska, and Sara Clark,
who helped at various stages of this research.
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NR 35
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD DEC
PY 2013
VL 6
IS 6
BP 631
EP 641
DI 10.1002/aur.1331
PG 11
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 274PG
UT WOS:000328617900017
PM 24108618
ER
PT J
AU Roine, U
Roine, T
Salmi, J
Nieminen-Von Wendt, T
Leppamaki, S
Rintahaka, P
Tani, P
Leemans, A
Sams, M
AF Roine, Ulrika
Roine, Timo
Salmi, Juha
Nieminen-Von Wendt, Taina
Leppamaki, Sami
Rintahaka, Pertti
Tani, Pekka
Leemans, Alexander
Sams, Mikko
TI Increased Coherence of White Matter Fiber Tract Organization in Adults
with Asperger Syndrome: A Diffusion Tensor Imaging Study
SO AUTISM RESEARCH
LA English
DT Article
DE diffusion tensor imaging (DTI); clinical psychiatry; neuroimaging;
autism spectrum disorder
ID HIGH-FUNCTIONING AUTISM; NORMAL SEX-DIFFERENCES; SPATIAL-STATISTICS;
HUMAN BRAIN; SPECTRUM DISORDERS; DTI ANALYSES; MRI DATA; CONNECTIVITY;
ABNORMALITIES; PATHWAYS
AB To investigate whether there are global white matter (WM) differences between autistic and healthy adults, we performed diffusion tensor imaging (DTI) in 14 male adults with Asperger syndrome (AS) and 19 gender-, age-, and intelligence quotient-matched controls. We focused on individuals with high-functioning autism spectrum disorder (ASD), AS, to decrease heterogeneity caused by large variation in the cognitive profile. Previous DTI studies of ASD have mainly focused on finding local changes in fractional anisotropy (FA) and mean diffusivity (MD), two indexes used to characterize microstructural properties of WM. Although the local or voxel-based approaches may be able to provide detailed information in terms of location of the observed differences, such results are known to be highly sensitive to partial volume effects, registration errors, or placement of the regions of interest. Therefore, we performed global histogram analyses of (a) whole-brain tractography results and (b) skeletonized WM masks. In addition to the FA and MD, the planar diffusion coefficient (CP) was computed as it can provide more specific information of the complexity of the neural structure. Our main finding indicated that adults with AS had higher mean FA values than controls. A less complex neural structure in adults with AS could have explained the results, but no significant difference in CP was found. Our results suggest that there are global abnormalities in the WM tissue of adults with AS. Autism Res 2013, 6: 642-650. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Roine, Ulrika; Salmi, Juha; Sams, Mikko] Aalto Univ, Dept Biomed Engn & Computat Sci, Brain & Mind Lab, Espoo, Finland.
[Roine, Timo] Univ Antwerp, Dept Phys, iMinds Vis Lab, B-2020 Antwerp, Belgium.
[Nieminen-Von Wendt, Taina] Neuropsychiat Rehabil & Med Ctr Neuromental, Helsinki, Finland.
[Leppamaki, Sami; Rintahaka, Pertti; Tani, Pekka] Univ Helsinki, Dept Psychiat, Cent Hosp, Clin Neuropsychiat, SF-00180 Helsinki, Finland.
[Leppamaki, Sami] Finnish Inst Occupat Hlth, Helsinki, Finland.
[Leemans, Alexander] Univ Med Ctr Utrecht, Image Sci Inst, Utrecht, Netherlands.
[Sams, Mikko] Aalto Univ, Adv Magnet Imaging Ctr, Espoo, Finland.
RP Roine, U (reprint author), Aalto Univ, Sch Sci, Dept Biomed Engn & Computat Sci, POB 12200, FI-00076 Aalto, Finland.
EM ulrika.roine@helsinki.fi
RI Sams, Mikko/G-7060-2012; Leemans, Alexander/A-1784-2011; Roine,
Timo/M-5865-2013; Roine, Ulrika/G-3142-2015
OI Roine, Timo/0000-0002-3104-9734; Roine, Ulrika/0000-0002-6985-4261
FU Academy of Finland [259952, 129670]
FX Grant sponsor Academy of Finland; Grant number: 259952.Grant sponsor
Academy of Finland; Grant number: 129670.
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PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD DEC
PY 2013
VL 6
IS 6
BP 642
EP 650
DI 10.1002/aur.1332
PG 9
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 274PG
UT WOS:000328617900018
PM 24089369
ER
PT J
AU Lai, KO
Ip, NY
AF Lai, Kwok-On
Ip, Nancy Y.
TI Structural plasticity of dendritic spines: The underlying mechanisms and
its dysregulation in brain disorders
SO BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
LA English
DT Review
DE Synaptic plasticity; NMDA receptor; Dendritic spine; BDNF; Rho GTPase;
Local protein synthesis
ID FRAGILE-X-SYNDROME; LONG-TERM POTENTIATION; RETARDATION PROTEIN
OLIGOPHRENIN-1; CULTURED HIPPOCAMPAL-NEURONS; NUCLEOTIDE-EXCHANGE
FACTORS; P70 S6 KINASE; MENTAL-RETARDATION; SYNAPTIC PLASTICITY; AMPA
RECEPTOR; RHO-GTPASES
AB Dendritic spines are specialized structures on neuronal processes where the majority of excitatory synapses are localized. Spines are highly dynamic, and their stabilization and morphology are influenced by synaptic activity. This extrinsic regulation of spine morphogenesis underlies experience-dependent brain development and information storage within the brain circuitry. In this review, we summarize recent findings that demonstrate the phenomenon of activity-dependent structural plasticity and the molecular mechanisms by which synaptic activity sculpt neuronal connections. Impaired structural plasticity is associated with perturbed brain function in neurodevelopmental disorders such as autism. Information from the mechanistic studies therefore provides important insights into the design of therapeutic strategies for these brain disorders. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Ip, Nancy Y.] Hong Kong Univ Sci & Technol, Div Life Sci, Mol Neurosci Ctr, Hong Kong, Hong Kong, Peoples R China.
Hong Kong Univ Sci & Technol, State Key Lab Mol Neurosci, Hong Kong, Hong Kong, Peoples R China.
RP Ip, NY (reprint author), Hong Kong Univ Sci & Technol, Div Life Sci, Mol Neurosci Ctr, Hong Kong, Hong Kong, Peoples R China.
EM boip@ust.hk
FU Research Grants Council of Hong Kong [HKUST 661109, 661309, 660810,
661010, 661111]; Theme-based Research Scheme [T13-607/12R]; Innovation
and Technology Fund [UIM/198]; S.H. Ho Foundation
FX We thank Ka-Chun Lok for preparing the figures in this review. The
studies were supported in part by the Research Grants Council of Hong
Kong [HKUST 661109, 661309, 660810, 661010, and 661111 and the
Theme-based Research Scheme (T13-607/12R)], Innovation and Technology
Fund (UIM/198), and the S.H. Ho Foundation.
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NR 117
TC 12
Z9 13
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0925-4439
EI 0006-3002
J9 BBA-MOL BASIS DIS
JI Biochim. Biophys. Acta-Mol. Basis Dis.
PD DEC
PY 2013
VL 1832
IS 12
BP 2257
EP 2263
DI 10.1016/j.bbadis.2013.08.012
PG 7
WC Biochemistry & Molecular Biology; Biophysics; Cell Biology
SC Biochemistry & Molecular Biology; Biophysics; Cell Biology
GA 260AO
UT WOS:000327567600036
PM 24012719
ER
PT J
AU Virues-Ortega, J
Julio, FM
Pastor-Barriuso, R
AF Virues-Ortega, Javier
Julio, Flavia M.
Pastor-Barriuso, Roberto
TI The TEACCH program for children and adults with autism: A meta-analysis
of intervention studies
SO CLINICAL PSYCHOLOGY REVIEW
LA English
DT Article
DE TEACCH; Meta-analysis; Outcome research; Autism
ID ADAPTIVE-BEHAVIOR SCALES; SPECTRUM-DISORDERS; YOUNG-CHILDREN;
COMMUNICATION INTERVENTION; TRAINING-PROGRAM; HETEROGENEITY; PARENTS;
FEASIBILITY; RELIABILITY; VALIDITY
AB The intervention program for autism known as Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH) is considered an emerging practice for autism. In the present study we used state-of-the-art meta-analytical procedures to examine the pooled clinical effects of TEACCH in a variety of outcomes. A total of 13 studies were selected for meta-analysis totaling 172 individuals with autism exposed to TEACCH. Standardized measures of perceptual, motor, adaptive, verbal and cognitive skills were identified as treatment outcomes. We used inverse-variance weighted random effects meta-analysis supplemented with quality assessment, sensitivity analysis, meta-regression, and heterogeneity and publication bias tests. The results suggested that TEACCH effects on perceptual, motor, verbal and cognitive skills were of small magnitude in the meta-analyzed studies. Effects over adaptive behavioral repertoires including communication, activities of daily living, and motor functioning were within the negligible to small range. There were moderate to large gains in social behavior and maladaptive behavior. The effects of the TEACCH program were not moderated by aspects of the intervention such as duration (total weeks), intensity (hours per week), and setting (home-based vs. center-based). While the present meta-analysis provided limited support for the TEACCH program as a comprehensive intervention, our results should be considered exploratory owing to the limited pool of studies available. (C) 2013 The authors. Published by Elsevier Ltd. All rights reserved.
C1 [Virues-Ortega, Javier] St Amant Res Ctr, Winnipeg, MB R3T 2N2, Canada.
[Virues-Ortega, Javier; Julio, Flavia M.] Univ Manitoba, Winnipeg, MB R3T 2N2, Canada.
[Pastor-Barriuso, Roberto] Carlos III Inst Hlth, Res Network Epidemiol & Publ Hlth CIBERESP, Natl Ctr Epidemiol, Madrid 28029, Spain.
RP Virues-Ortega, J (reprint author), St Amant Res Ctr, P518 Duff Robin Bldg,19 Dysart Rd, Winnipeg, MB R3T 2N2, Canada.
EM javier.virues@ad.umanitoba.ca; juliof@cc.umanitoba.ca; rpastor@isciii.es
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NR 82
TC 3
Z9 3
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 DEC
PY 2013
VL 33
IS 8
BP 940
EP 953
DI 10.1016/j.cpr.2013.07.005
PG 14
WC Psychology, Clinical
SC Psychology
GA 272DH
UT WOS:000328440000004
PM 23988454
ER
PT J
AU Hannon, G
Taylor, EP
AF Hannon, Geraldine
Taylor, Emily P.
TI Suicidal behaviour in adolescents and young adults with ASD: Findings
from a systematic review
SO CLINICAL PSYCHOLOGY REVIEW
LA English
DT Review
DE Asperger; Autism spectrum disorder; Adolescents; Suicidal behaviour;
Mental health
ID AUTISM SPECTRUM DISORDERS; SELF-INJURIOUS-BEHAVIOR; ASPERGERS-SYNDROME;
HARM; QUESTIONNAIRE; PREVALENCE; CHILDREN; PEOPLE
AB Suicide is a major problem in Western society. However we have very little understanding of suicidal behaviour among individuals with autism spectrum disorders. The purpose of this review is to synthesise primary research on suicidal behaviour among adolescents and young adults with autism spectrum disorders in order to estimate prevalence and to identify and critically evaluate risk factors for suicidal behaviour in this population. Four primary research studies were identified for this review following a comprehensive literature search. The available research provides little empirical evidence for the processes underlying suicidal behaviour in adolescents and young adults with autism. (C) 2013 Published by Elsevier Ltd.
C1 [Hannon, Geraldine; Taylor, Emily P.] Univ Edinburgh, Sch Hlth Social Sci, Edinburgh EH8 9AG, Midlothian, Scotland.
RP Taylor, EP (reprint author), Univ Edinburgh, Sch Hlth Social Sci, Teviot Pl, Edinburgh EH8 9AG, Midlothian, Scotland.
EM Emily.Taylor@ed.ac.uk
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NR 47
TC 4
Z9 4
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 DEC
PY 2013
VL 33
IS 8
BP 1197
EP 1204
DI 10.1016/j.cpr.2013.10.003
PG 8
WC Psychology, Clinical
SC Psychology
GA 272DH
UT WOS:000328440000022
PM 24201088
ER
PT J
AU Staahl, BT
Crabtree, GR
AF Staahl, Brett T.
Crabtree, Gerald R.
TI Creating a neural specific chromatin landscape by npBAF and nBAF
complexes
SO CURRENT OPINION IN NEUROBIOLOGY
LA English
DT Article
ID DE-NOVO MUTATIONS; MAMMALIAN SWI/SNF COMPLEXES; COFFIN-SIRIS SYNDROME;
REMODELING COMPLEX; INTELLECTUAL DISABILITY; TRANSCRIPTION FACTORS;
NETWORK; AUTISM; SCHIZOPHRENIA; PLURIPOTENCY
AB Several features make the chromatin environment of neurons likely to be different than any other cell type. These include the fact that several hundred types of neurons exist, each requiring specialized patterns of gene expression and in turn specialized chromatin landscapes. In addition, neurons have the most stable morphology of any cell type, a unique feature essential for memory. Yet these stable morphologies must allow the emergence of new stable morphologies in response to environmental influences permitting learning to occur by altered morphology and new synapse formation. Several years ago we found that neurons have specific chromatin remodeling mechanisms not present in any other cell type that are produced by combinatorial assembly of ATP-dependent chromatin remodeling complexes. The neural specific subunits are essential for normal neural development, learning and memory. Remarkably, recreating these neural specific complexes in fibroblasts leads to their conversion to neurons. Recently, the subunits of these complexes have been found to have genetically dominant roles in several human neurologic diseases. The genetic dominance of these mutations suggests that less severe mutations will contribute to phenotypic variation in human neuronally derived traits.
C1 [Staahl, Brett T.; Crabtree, Gerald R.] Stanford Univ, Sch Med, Dept Dev Biol, Stanford, CA 94305 USA.
[Staahl, Brett T.; Crabtree, Gerald R.] Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA.
[Staahl, Brett T.; Crabtree, Gerald R.] Howard Hughes Med Inst, Chevy Chase, MD USA.
RP Staahl, BT (reprint author), Univ Calif Berkeley, Calif Inst Quantitat Biosci, Berkeley, CA 94720 USA.
EM bstaahl@berkeley.edu
FU National Institutes of Health; Howard Hughes Medical Institute
FX We thank all members of the Crabtree Lab for engaging discussions on
this topic and especially thank Dr. Andrew Yoo for critically reading
the manuscript. GRC is funded by grants from the National Institutes of
Health and the Howard Hughes Medical Institute.
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NR 46
TC 2
Z9 2
PU CURRENT BIOLOGY LTD
PI LONDON
PA 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND
SN 0959-4388
EI 1873-6882
J9 CURR OPIN NEUROBIOL
JI Curr. Opin. Neurobiol.
PD DEC
PY 2013
VL 23
IS 6
BP 903
EP 913
DI 10.1016/j.conb.2013.09.003
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA 273EN
UT WOS:000328517800002
PM 24090879
ER
PT J
AU Lindsay, S
Proulx, M
Thomson, N
Scott, H
AF Lindsay, Sally
Proulx, Meghann
Thomson, Nicole
Scott, Helen
TI Educators' Challenges of Including Children with Autism Spectrum
Disorder in Mainstream Classrooms
SO INTERNATIONAL JOURNAL OF DISABILITY DEVELOPMENT AND EDUCATION
LA English
DT Article
DE Asperger's; autism spectrum disorder; children; inclusive education;
mainstream classroom; qualitative research; social inclusion; teachers
ID DISABILITY AWARENESS; SECONDARY-SCHOOLS; SOCIAL INCLUSION;
CEREBRAL-PALSY; EXPERIENCES; ATTITUDES; PUPILS; YOUTH; ASD
AB Although children with autism spectrum disorder (ASD) are increasingly being placed within mainstream classes, little is known about the challenges that teachers encounter with including them as full participants in the class. This qualitative study draws on a purposive sample of 13 educators who have experience teaching children with ASD within two cities in Ontario, Canada. Through in-depth interviews we asked about teachers' challenges regarding creating an inclusive environment within their classroom. Teachers reported several challenges, including: understanding and managing behaviour; socio-structural barriers (i.e., school policy, lack of training and resources); and creating an inclusive environment (i.e., lack of understanding from other teachers, students and parents). Teachers recommend that more resources, training and support are needed to enhance the education and inclusion of children with ASD.
C1 [Lindsay, Sally; Proulx, Meghann; Thomson, Nicole; Scott, Helen] Univ Toronto, Bloorview Res Inst, Holland Bloorview Kids Rehabil Hosp, Toronto, ON, Canada.
RP Lindsay, S (reprint author), Univ Toronto, Bloorview Res Inst, Holland Bloorview Kids Rehabil Hosp, Toronto, ON, Canada.
EM slindsay@hollandbloorview.ca
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Bowe F., 2004, MAKING INCLUSION WOR
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NR 29
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1034-912X
EI 1465-346X
J9 INT J DISABIL DEV ED
JI Int. J. Disabil. Dev. Educ.
PD DEC 1
PY 2013
VL 60
IS 4
BP 347
EP 362
DI 10.1080/1034912X.2013.846470
PG 16
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 270KO
UT WOS:000328317500005
ER
PT J
AU Sauer, JS
AF Sauer, Janet Story
TI Research, relationships and making understanding: a look at
Brantlinger's Darla and the value of case study research
SO INTERNATIONAL JOURNAL OF INCLUSIVE EDUCATION
LA English
DT Article
DE agency; disability; sexuality; qualitative research
ID SPECIAL-EDUCATION; PORTRAITURE; IDENTITY; AUTISM; AGENCY; NEEDS
AB This article examines Brantlinger and colleagues' longitudinal case study Fighting for Darla; Challenges for family care and professional responsibility [Brantlinger, E.A., S.M. Klein, and S.L. Guskin. 1994. Fighting for Darla; Challenges for family care and professional responsibility. New York: Teachers College Press]. I describe how this piece resonated with me as a mother of a boy considered to have significant disabilities and how it informed my practice as an emerging qualitative researcher. I explore the relationship between this form of methodology and the subjects' agency referring to my own research and others in the humanities. Brantlinger's work here is historical in its documentation of the experience of a teenager with a label of autism who has not been supported in developing conventional communication and who becomes pregnant and has a child. It is illustrative of the unique contributions she made towards understanding the complexities of daily life for families with children with disabilities. Two decades have passed since this study was published and yet the methodology and lessons learned remain important to informing those of us who value the humanity of people with significant disabilities and respect their sense of agency. Finally, the possible implications for the activist researcher, such as Brantlinger, are discussed.
C1 Lesley Univ, Coll Liberal Arts & Sci, Cambridge, MA 02138 USA.
RP Sauer, JS (reprint author), Lesley Univ, Coll Liberal Arts & Sci, 29 Everett St, Cambridge, MA 02138 USA.
EM jsauer2@lesley.edu
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NR 48
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1360-3116
EI 1464-5173
J9 INT J INCLUSIVE EDUC
JI Int. J. Incl. Educ.
PD DEC 1
PY 2013
VL 17
IS 12
SI SI
BP 1253
EP 1264
DI 10.1080/13603116.2013.781237
PG 12
WC Education & Educational Research
SC Education & Educational Research
GA 269NK
UT WOS:000328247800004
ER
PT J
AU Allen, KD
Wallace, DP
AF Allen, Keith D.
Wallace, Dustin P.
TI EFFECTIVENESS OF USING NONCONTINGENT ESCAPE FOR GENERAL BEHAVIOR
MANAGEMENT IN A PEDIATRIC DENTAL CLINIC
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE noncontingent escape; behavioral medicine; dentistry; children;
randomized controlled trial
ID YOUNG-CHILDREN; REINFORCEMENT; CONTINGENT; INTERVENTIONS; PREVALENCE;
EFFICACY; ANXIETY; AUTISM
AB In a randomized controlled trial, 151 children 2 to 9 years old were exposed to either usual behavior management or to a fixed-time schedule of brief breaks (noncontingent escape) from ongoing dental treatment. Results demonstrated that the routine delivery of scheduled breaks from treatment significantly reduced the vocal and physical disruptive behavior and the need for restraint in a nonclinical sample of children undergoing restorative dental treatment. In addition, the treatment did not add significantly to the typical time spent on behavior management by dentists. Together with findings from previous studies, these results suggest that using brief breaks from ongoing dental treatment has good efficacy, acceptability, and generality and may be a useful management tool, both in everyday dental practice and in more demanding instances of specialized need.
C1 [Allen, Keith D.] Univ Nebraska Med Ctr, Munroe Meyer Inst Genet & Rehabil, Omaha, NE USA.
[Wallace, Dustin P.] Childrens Mercy Hosp & Clin, Kansas City, MO USA.
RP Allen, KD (reprint author), Munroe Meyer Inst, Dept Psychol, 985450 Nebraska Med Ctr, Omaha, NE 68198 USA.
EM kdallen@unmc.edu
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NR 41
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD WIN
PY 2013
VL 46
IS 4
BP 723
EP 737
DI 10.1002/jaba.82
PG 15
WC Psychology, Clinical
SC Psychology
GA 267ZI
UT WOS:000328136600003
PM 24114693
ER
PT J
AU Kurtz, PF
Fodstad, JC
Huete, JM
Hagopian, LP
AF Kurtz, Patricia F.
Fodstad, Jill C.
Huete, John M.
Hagopian, Louis P.
TI CAREGIVER- AND STAFF-CONDUCTED FUNCTIONAL ANALYSIS OUTCOMES: A SUMMARY
OF 52 CASES
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE functional analysis; severe behavior disorders; function-based
treatments; caregivers
ID SELF-INJURIOUS-BEHAVIOR; CHALLENGING BEHAVIORS; ABERRANT BEHAVIOR;
YOUNG-CHILDREN; THERAPISTS; AUTISM; DISABILITIES; METHODOLOGY; ADULTS
AB In the present study, caregivers were trained as therapists to conduct functional analyses (FAs) after staff-conducted FAs were inconclusive with 52 participants. Caregiver-conducted FAs identified at least 1 function for problem behavior when staff-conducted FAs were undifferentiated. When results of the staff-conducted FAs were questionable, subsequent caregiver-conducted FAs resulted in an exact match with staff-conducted FA in about 68% of cases but identified new functions in about 30% of cases. Function-based treatments based on caregiver-conducted FAs were effective in reducing problem behavior by an average of 96% relative to baseline. Results suggest that when staff-conducted FA outcomes yield inconclusive findings, using caregivers to conduct FAs is likely to produce differentiated results and ultimately result in the development of effective treatments.
C1 Kennedy Krieger Inst, Baltimore, MD 21205 USA.
Johns Hopkins Univ, Sch Med, Baltimore, MD 21218 USA.
RP Kurtz, PF (reprint author), Kennedy Krieger Inst, Dept Behav Psychol, 707 North Broadway, Baltimore, MD 21205 USA.
EM Kurtz@kennedykrieger.org
CR Anderson CM, 1999, BEHAV THER, V30, P31, DOI 10.1016/S0005-7894(99)80044-6
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Beavers GA, 2013, J APPL BEHAV ANAL, V46, P1, DOI 10.1002/jaba.30
Bradley EA, 2004, J AUTISM DEV DISORD, V34, P151, DOI 10.1023/B:JADD.0000022606.97580.19
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Wacker DP, 1998, J DEV BEHAV PEDIATR, V19, P260, DOI 10.1097/00004703-199808000-00004
NR 27
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD WIN
PY 2013
VL 46
IS 4
BP 738
EP 749
DI 10.1002/jaba.87
PG 12
WC Psychology, Clinical
SC Psychology
GA 267ZI
UT WOS:000328136600004
PM 24114788
ER
PT J
AU Lechago, SA
Howell, A
Caccavale, MN
Peterson, CW
AF Lechago, Sarah A.
Howell, Amber
Caccavale, Mia N.
Peterson, Charles W.
TI TEACHING "HOW?" MAND-FOR-INFORMATION FRAMES TO CHILDREN WITH AUTISM
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE mands for information; motivating operation; behavior chains; mand
frames
AB The current study extends the mand-for-information literature by examining a method to teach mand-for-information frames, targeting 2 frames for the "How?" mand ("How do I?" and "How many?"). Using separate behavior chains to target the 2 frames, we taught 3 children with autism to emit mands for information with 1 behavior chain and assessed generalization with the remaining behavior chains. Behavior chains that the participants were unable to perform independently and that produced a desirable outcome for the participant (e.g., tornado water) were used to contrive the relevant motivating operation. For all 3 participants, mands for information generalized across motivating operations and response topographies.
C1 [Lechago, Sarah A.; Caccavale, Mia N.; Peterson, Charles W.] Univ Houston Clear Lake City, Houston, TX 77058 USA.
[Howell, Amber] Ivymount Sch, Rockville, MD USA.
RP Lechago, SA (reprint author), Univ Houston Clear Lake City, Houston, TX 77058 USA.
EM Lechago@uhcl.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Endicott K, 2007, RES AUTISM SPECT DIS, V1, P210, DOI 10.1016/j.rasd.2006.10.003
Lechago SA, 2010, J APPL BEHAV ANAL, V43, P381, DOI 10.1901/jaba.2010.43-381
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Partington J. W., 2006, ASSESSMENT BASIC LAN
Shillingsburg M Alice, 2011, Anal Verbal Behav, V27, P179
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Sundberg M. L., 2002, ANAL VERBAL BEHAV, V18, P15
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Sundberg M. L., 1998, TEACHING LANGUAGE CH
Sundberg ML, 2001, BEHAV MODIF, V25, P698, DOI 10.1177/0145445501255003
Williams G, 2000, J APPL BEHAV ANAL, V33, P627, DOI 10.1901/jaba.2000.33-627
NR 12
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD WIN
PY 2013
VL 46
IS 4
BP 781
EP 791
DI 10.1002/jaba.71
PG 11
WC Psychology, Clinical
SC Psychology
GA 267ZI
UT WOS:000328136600007
PM 24114374
ER
PT J
AU De Souza, AA
Rehfeldt, RA
AF De Souza, Andresa A.
Rehfeldt, Ruth Anne
TI EFFECTS OF DICTATION-TAKING AND MATCH-TO-SAMPLE TRAINING ON LISTING AND
SPELLING RESPONSES IN ADULTS WITH INTELLECTUAL DISABILITIES
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE verbal behavior; taking dictation; vocal spelling; intraverbals;
conditional discrimination; intellectual disabilities
ID SEVERE DEVELOPMENTAL-DISABILITIES; CHILDREN; EQUIVALENCE; AUTISM;
SKILLS; MANDS; TACTS
AB Several studies have demonstrated that conditions can be arranged to promote increases in a nontargeted verbal operant following instruction of another verbal operant. In the current study, we used a multiple baseline design to evaluate the effects of 2 instructional protocols on nontargeted verbal repertoires (listing of synonyms and vocal spelling of these synonyms) in adults with intellectual disabilities. In Experiment 1, participants were instructed in taking dictation and were tested for the vocal spelling of the words taught during instruction. In Experiment 2, participants were taught to match printed words to their printed synonyms and tested for the vocal spelling and listing of synonyms. In both experiments, interventions promoted increases in nontargeted verbal skills.
C1 [De Souza, Andresa A.; Rehfeldt, Ruth Anne] So Illinois Univ, Carbondale, IL 62901 USA.
RP Rehfeldt, RA (reprint author), So Illinois Univ, Inst Rehabil, Behav Anal & Therapy Program, Carbondale, IL 62901 USA.
EM rehfeldt@siu.edu
CR Barbera Mary L, 2005, Anal Verbal Behav, V21, P155
Barnes-Holmes D, 2000, BEHAV ANALYST, V23, P69
Coleman-Martin MB, 2004, J APPL BEHAV ANAL, V37, P469, DOI 10.1901/jaba.2004.37-469
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Greer R Douglas, 2005, Anal Verbal Behav, V21, P99
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Miguel Caio F, 2005, Anal Verbal Behav, V21, P27
Palmer D. C., 1991, DIALOGUES VERBAL BEH, P261
Petursdottir Anna Ingeborg, 2005, Anal Verbal Behav, V21, P59
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Rehfeldt RA, 2005, J APPL BEHAV ANAL, V38, P101, DOI 10.1901/jaba.2005.106-03
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Skinner B. F., 1957, VERBAL BEHAV
Stafford M W, 1988, Anal Verbal Behav, V6, P61
Sundberg M L, 1990, Anal Verbal Behav, V8, P83
Twyman J., 1996, ANAL VERBAL BEHAV, V13, P1
NR 25
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD WIN
PY 2013
VL 46
IS 4
BP 792
EP 804
DI 10.1002/jaba.75
PG 13
WC Psychology, Clinical
SC Psychology
GA 267ZI
UT WOS:000328136600008
PM 24114423
ER
PT J
AU Vladescu, JC
Kodak, TM
AF Vladescu, Jason C.
Kodak, Tiffany M.
TI INCREASING INSTRUCTIONAL EFFICIENCY BY PRESENTING ADDITIONAL STIMULI IN
LEARNING TRIALS FOR CHILDREN WITH AUTISM SPECTRUM DISORDERS
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE autism spectrum disorders; discrete-trial instruction; instructional
efficiency; instructive feedback
ID CONSTANT TIME-DELAY
AB The current study examined the effectiveness and efficiency of presenting secondary targets within learning trials for 4 children with an autism spectrum disorder. Specifically, we compared 4 instructional conditions using a progressive prompt delay. In 3 conditions, we presented secondary targets in the antecedent or consequence portion of learning trials, or in the absence of prompts and reinforcement. In the fourth condition (control), we did not include secondary targets in learning trials. Results replicate and extend previous research by demonstrating that the majority of participants acquired secondary targets presented in the antecedent and consequent events of learning trials.
C1 [Vladescu, Jason C.] Caldwell Coll, Caldwell, NJ 07006 USA.
[Kodak, Tiffany M.] Univ Oregon, Eugene, OR 97403 USA.
RP Vladescu, JC (reprint author), Caldwell Coll, Dept Appl Behav Anal, 120 Bloomfield Ave, Caldwell, NJ 07006 USA.
EM jvladescu@caldwell.edu
CR Anthony L., 1996, J BEHAV ED, V6, P111, DOI 10.1007/BF02110228
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Coon JT, 2012, J APPL BEHAV ANAL, V45, P657, DOI 10.1901/jaba.2012.45-657
Cromer K., 1998, J BEHAV ED, V8, P37, DOI 10.1023/A:1022812723663
DeLeon IG, 1996, J APPL BEHAV ANAL, V29, P519, DOI 10.1901/jaba.1996.29-519
FISHER W, 1992, J APPL BEHAV ANAL, V25, P491, DOI 10.1901/jaba.1992.25-491
Ingvarsson ET, 2011, J APPL BEHAV ANAL, V44, P659, DOI 10.1901/jaba.2011.44-659
Kodak T, 2011, RES AUTISM SPECT DIS, V5, P1059, DOI 10.1016/j.rasd.2010.11.012
Reichow B, 2011, J APPL BEHAV ANAL, V44, P327, DOI 10.1901/jaba.2011.44-327
Sindelar P. T., 1985, ED TREATMENT CHILDRE, V8, P67
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WOLERY M, 1990, REM SPEC EDUC, V11, P47
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Wolery T. D., 2000, J BEHAV ED, V10, P77, DOI [10.1023/A:1016679928480, DOI 10.1023/A:1016679928480]
NR 16
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD WIN
PY 2013
VL 46
IS 4
BP 805
EP 816
DI 10.1002/jaba.70
PG 12
WC Psychology, Clinical
SC Psychology
GA 267ZI
UT WOS:000328136600009
PM 24114346
ER
PT J
AU Call, NA
Shillingsburg, MA
Bowen, CN
Reavis, AR
Findley, AJ
AF Call, Nathan A.
Shillingsburg, M. Alice
Bowen, Crystal N.
Reavis, Andrea R.
Findley, Addie J.
TI DIRECT ASSESSMENT OF PREFERENCES FOR SOCIAL INTERACTIONS IN CHILDREN
WITH AUTISM
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE concurrent operants; choice; autism; social interaction
AB Qualitative and quantitative differences in social interactions are core symptoms of the autism spectrum disorder (ASD) diagnostic criteria, although there is heterogeneity among individuals with ASDs. This study used a concurrent operants arrangement to evaluate whether social interactions functioned as positive reinforcement, negative reinforcement, or as neutral stimuli for 6 individuals with autism. Data suggest that clinicians who work with individuals with ASD should ascertain the functional properties of social interactions prior to using them as a consequence in interventions.
C1 [Call, Nathan A.; Shillingsburg, M. Alice; Bowen, Crystal N.; Reavis, Andrea R.; Findley, Addie J.] Marcus Autism Ctr, Atlanta, GA 30329 USA.
[Call, Nathan A.; Shillingsburg, M. Alice] Emory Univ, Sch Med, Atlanta, GA 30322 USA.
RP Call, NA (reprint author), Marcus Autism Ctr, 1920 Briarcliff Rd, Atlanta, GA 30329 USA.
EM nathan.call@choa.org
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
FISHER W, 1992, J APPL BEHAV ANAL, V25, P491, DOI 10.1901/jaba.1992.25-491
Jones W, 2009, J AM ACAD CHILD PSY, V48, P471, DOI 10.1097/CHI.0b013e31819f6c0d
KOEGEL RL, 1980, J APPL BEHAV ANAL, V13, P91, DOI 10.1901/jaba.1980.13-91
Nuernberger JE, 2012, BEHAV INTERVENT, V27, P33, DOI 10.1002/bin.1336
PARSONSO.BS, 1974, J APPL BEHAV ANAL, V7, P427, DOI 10.1901/jaba.1974.7-427
WING L, 1979, J AUTISM DEV DISORD, V9, P11, DOI 10.1007/BF01531288
NR 7
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD WIN
PY 2013
VL 46
IS 4
BP 821
EP 826
DI 10.1002/jaba.69
PG 6
WC Psychology, Clinical
SC Psychology
GA 267ZI
UT WOS:000328136600011
PM 24114289
ER
PT J
AU Gokey, KM
Wilder, DA
Welch, T
Collier, A
Mathisen, D
AF Gokey, Kaitlynn M.
Wilder, David A.
Welch, Teresa
Collier, Aimee
Mathisen, David
TI FADING A CONCURRENT ACTIVITY DURING SELF-CONTROL TRAINING FOR CHILDREN
WITH AUTISM
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE autism; delay discounting; self-control
AB We evaluated a modified technique for teaching self-control and increasing the duration of waiting for access to a preferred item among 3 children with autism. Participants initially chose an immediate small reinforcer over a delayed large reinforcer and a delayed large reinforcer with a concurrent activity requirement for the duration of the delay. When the delay to the larger reinforcer with the concurrent activity requirement was gradually increased from 0 s to the terminal delay, participants switched to and maintained selection of that option, thereby demonstrating increased self-control. Finally, the duration of the concurrent activity was gradually reduced without changing the duration of the delay to the large reinforcer. All 3 participants continued to select the delayed large reinforcer, showing self-controlled responding in the absence of a concurrent activity.
C1 Florida Inst Technol, Melbourne, FL 32901 USA.
RP Wilder, DA (reprint author), Florida Inst Technol, Sch Psychol, 150 W Univ Blvd, Melbourne, FL 32901 USA.
EM dawilder@fit.edu
CR Dixon MR, 2001, J APPL BEHAV ANAL, V34, P491, DOI 10.1901/jaba.2001.34-491
FISHER W, 1992, J APPL BEHAV ANAL, V25, P491, DOI 10.1901/jaba.1992.25-491
NR 2
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD WIN
PY 2013
VL 46
IS 4
BP 827
EP 831
DI 10.1002/jaba.77
PG 5
WC Psychology, Clinical
SC Psychology
GA 267ZI
UT WOS:000328136600012
PM 24114520
ER
PT J
AU Chiang, CL
Lin, YH
Hsieh, MH
AF Chiang, Chih-lin
Lin, Yu-Hsuan
Hsieh, Ming H.
TI Olanzapine-Induced Hyponatremia in a Patient with Autism
SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY
LA English
DT Letter
ID PSYCHOGENIC POLYDIPSIA; WATER-INTOXICATION; ANTIPSYCHOTICS
C1 [Chiang, Chih-lin] Shin Kong Wu Ho Su Mem Hosp, Dept Psychiat, Taipei, Taiwan.
[Lin, Yu-Hsuan; Hsieh, Ming H.] Natl Taiwan Univ Hosp, Dept Psychiat, Taipei 10002, Taiwan.
[Hsieh, Ming H.] Natl Taiwan Univ, Coll Med, Dept Psychiat, Taipei 10764, Taiwan.
[Hsieh, Ming H.] Natl Taiwan Univ, Neurobiol & Cognit Sci Ctr, Taipei 10764, Taiwan.
RP Hsieh, MH (reprint author), Natl Taiwan Univ Hosp, Dept Psychiat, 7 Chung Shan S Rd, Taipei 10002, Taiwan.
EM mingh@ntuh.gov.tw
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NR 15
TC 1
Z9 1
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1044-5463
EI 1557-8992
J9 J CHILD ADOL PSYCHOP
JI J. Child Adolesc. Psychopharmacol.
PD DEC 1
PY 2013
VL 23
IS 10
BP 699
EP 700
DI 10.1089/cap.2013.0055
PG 2
WC Pediatrics; Pharmacology & Pharmacy; Psychiatry
SC Pediatrics; Pharmacology & Pharmacy; Psychiatry
GA 274VN
UT WOS:000328634400010
PM 24261660
ER
PT J
AU Buchweitz, A
Prat, C
AF Buchweitz, Augusto
Prat, Chantel
TI The bilingual brain: Flexibility and control in the human cortex
SO PHYSICS OF LIFE REVIEWS
LA English
DT Review
DE Bilingualism; Language; Control; Executive function; fMRI; Semantic
representation
ID WORD FORM AREA; SYNTACTIC AMBIGUITY RESOLUTION; SPANISH-ENGLISH
BILINGUALS; AUTISM SPECTRUM DISORDERS; SENTENCE COMPREHENSION;
PREFRONTAL CORTEX; LANGUAGE CONTROL; INDIVIDUAL-DIFFERENCES; COGNITIVE
CONTROL; BASAL GANGLIA
AB The goal of the present review is to discuss recent cognitive neuroscientific findings concerning bilingualism. Three interrelated questions about the bilingual brain are addressed: How are multiple languages represented in the brain? how are languages controlled in the brain? and what are the real-world implications of experience with multiple languages? The review is based on neuroimaging research findings about the nature of bilingual processing, namely, how the brain adapts to accommodate multiple languages in the bilingual brain and to control which language should be used, and when. We also address how this adaptation results in differences observed in the general cognition of bilingual individuals. General implications for models of human learning, plasticity, and cognitive control are discussed. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Buchweitz, Augusto] Pontifical Catholic Univ Rio Grande Sul PUCRS, Sch Languages, Porto Alegre, RS, Brazil.
[Buchweitz, Augusto] Pontifical Catholic Univ Rio Grande Sul PUCRS, Brain Inst Rio Grande Sul InsCer, Porto Alegre, RS, Brazil.
[Prat, Chantel] Univ Washington, Dept Psychol, Seattle, WA 98195 USA.
[Prat, Chantel] Univ Washington, Inst Learning & Brain Sci, Seattle, WA 98195 USA.
RP Buchweitz, A (reprint author), Pontifical Catholic Univ Rio Grande Sul PUCRS, Sch Languages, Porto Alegre, RS, Brazil.
EM augusto.buchweitz@pucrs.br
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NR 110
TC 12
Z9 12
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 1571-0645
EI 1873-1457
J9 PHYS LIFE REV
JI Phys. Life Rev.
PD DEC
PY 2013
VL 10
IS 4
BP 428
EP 443
DI 10.1016/j.plrev.2013.07.020
PG 16
WC Biology; Biophysics
SC Life Sciences & Biomedicine - Other Topics; Biophysics
GA 275FK
UT WOS:000328661500008
PM 23973007
ER
PT J
AU Chan, J
Webber, LS
Hayward, B
AF Chan, Jeffrey
Webber, Lynne S.
Hayward, Brent
TI Examining the Use of Restrictive Interventions in Respite Services in an
Australian Jurisdiction
SO PSYCHIATRY PSYCHOLOGY AND LAW
LA English
DT Article
DE autism; challenging behaviour; disability; human rights; respite;
restraints; restrictive interventions; seclusion
ID PSYCHOTROPIC MEDICATION USE; INTELLECTUAL DISABILITIES; CHALLENGING
BEHAVIORS; YOUNG-PEOPLE; MENTAL-RETARDATION; CHILDREN; CARE;
ADOLESCENTS; POPULATION; AUTISM
AB Very little is known about the use of restrictive interventions on children and young people with disabilities and challenging behaviours who receive respite. This study examines the use of restrictive interventions in an Australian jurisdiction where there is mandatory reporting of these practices in government-funded services. The characteristics of those subject to restrictive interventions and the types of restraint and seclusion used in respite are compared with those in people who do not receive respite. Approximately 28% (n = 578) of the total number of people with disabilities subjected to restrictive interventions were from respite services. They were generally male, younger (average age 21years old) and reported to have a diagnosis of autism. The majority were subject to chemical restraint. The use of restrictive interventions in respite services requires further investigation and monitoring. There are policy and practice implications for respite service delivery.
C1 [Chan, Jeffrey] Yooralla, Melbourne, Vic 3000, Australia.
[Chan, Jeffrey] Univ Queensland, Ctr Excellence Behav Support, Brisbane, Qld 4072, Australia.
[Webber, Lynne S.; Hayward, Brent] Dept Human Serv, Melbourne, Vic, Australia.
[Webber, Lynne S.] Deakin Univ, Sch Psychol, Geelong, Vic 3217, Australia.
RP Chan, J (reprint author), Yooralla, 244 Flinders St, Melbourne, Vic 3000, Australia.
EM Jeffrey.chan@yooralla.com.au
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NR 53
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1321-8719
EI 1934-1687
J9 PSYCHIAT PSYCHOL LAW
JI Psychiatr. Psychol. Law
PD DEC 1
PY 2013
VL 20
IS 6
BP 921
EP 931
DI 10.1080/13218719.2013.770357
PG 11
WC Criminology & Penology; Law; Psychiatry; Psychology, Multidisciplinary
SC Criminology & Penology; Government & Law; Psychiatry; Psychology
GA 269MB
UT WOS:000328244300011
ER
PT J
AU Gonzalez-Toro, MC
Jadraque-Rodriguez, R
Sempere-Perez, A
Martinez-Pastor, P
Jover-Cerda, J
Gomez-Gosalvez, F
AF Gonzalez-Toro, M. Cristina
Jadraque-Rodriguez, Rocio
Sempere-Perez, Angela
Martinez-Pastor, Pedro
Jover-Cerda, Jenaro
Gomez-Gosalvez, Francisco
TI Anti-NMDA receptor encephalitis: two paediatric cases
SO REVISTA DE NEUROLOGIA
LA Spanish
DT Article
DE Anti-NMDA encephalitis; Anti-NMDA receptor antibodies; Autistic
regression; Immunotherapy; Neuropsychiatric symptoms; Underlying tumor
ID ANTIBODIES; POPULATION; CHILDREN; SERIES
AB Introduction. Encephalitis associated to anti-N-methyl D-aspartate (NMDA) receptor antibodies is an autoimmune neurological pathology that has been reported increasingly more frequently in the paediatric population in recent years. We report two cases from our own experience with similar clinical pictures.
Case reports. Case 1: a 5-year-old girl who began with clinical signs and symptoms of convulsions and altered consciousness, associated to movement disorders and regression of previously acquired abilities that developed into autism. Case 2: a 13-year-old girl who presented left-side hemiparesis, abnormal movements, conduct disorder and dysautonomia. In both cases positive anti-NMDA receptor antibodies were obtained in cerebrospinal fluid and they were diagnosed with anti-NMDA receptor encephalitis. In the first case, treatment was established with intravenous perfusion of corticoids and immunoglobulins, and rituximab also had to be associated. In the second case, treatment consisted in corticoids and immunoglobulins. Progress was favourable in both cases, with a slight language disorder as a sequela in the first case and a relapse in the second case, with full resolution.
Conclusions. Anti-NMDA receptor encephalitis is a treatable disorder and early diagnosis and treatment are crucial, since this improves the prognosis and diminishes the chances of relapses.
C1 [Gonzalez-Toro, M. Cristina; Jadraque-Rodriguez, Rocio; Sempere-Perez, Angela; Martinez-Pastor, Pedro; Jover-Cerda, Jenaro; Gomez-Gosalvez, Francisco] Hosp Gen Univ Alicante, Unidad Neuroped, Serv Pediat, E-03010 Alicante, Spain.
RP Gonzalez-Toro, MC (reprint author), Hosp Gen Univ Alicante, Serv Pediat, Pintor Baeza 12, E-03010 Alicante, Spain.
EM mcriss85@hotmail.com
CR Armangue T, 2013, J PEDIATR-US, V162, P850, DOI 10.1016/j.jpeds.2012.10.011
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Titulaer MJ, 2011, EUR J NEUROL, V18, P19
Titulaer MJ, 2013, LANCET NEUROL, V12, P157, DOI 10.1016/S1474-4422(12)70310-1
NR 17
TC 0
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 DEC 1
PY 2013
VL 57
IS 11
BP 504
EP 508
PG 5
WC Clinical Neurology
SC Neurosciences & Neurology
GA 277KP
UT WOS:000328818300004
PM 24265144
ER
PT J
AU Abisror, N
Mekinian, A
Lachassinne, E
Nicaise-Roland, P
De Pontual, L
Chollet-Martin, S
Boddaert, N
Carbillon, L
Fain, O
AF Abisror, Noemie
Mekinian, Arsene
Lachassinne, Eric
Nicaise-Roland, Pascale
De Pontual, Loic
Chollet-Martin, Sylvie
Boddaert, Nathalie
Carbillon, Lionel
Fain, Olivier
TI Autism spectrum disorders in babies born to mothers with
antiphospholipid syndrome
SO SEMINARS IN ARTHRITIS AND RHEUMATISM
LA English
DT Article
DE Antiphospholipid syndrome; Lupus; Offspring; Outcome; Autism
ID SYSTEMIC-LUPUS-ERYTHEMATOSUS; CHILDREN BORN; NEUROPSYCHOLOGICAL
DEVELOPMENT; ANTIBODIES
AB Objectives: To evaluate the outcomes of babies born to mothers with primary antiphospholipid syndrome and to compare to the outcomes of babies of mothers with systemic lupus erythematosus.
Methods: A retrospective study from 2003 to 2010 assessing the clinical characteristics and psychomotor development, as well as the immunological data, of children born to mothers with antiphospholipid syndrome CAPS) (group 1) and systemic lupus erythematosus (group 2).
Results: Group 1 consisted of 36 children born to mothers (n = 26) with a primary APS. Autism spectrum disorders occurred in 3 children from group 1 and all of them had persistent anti-beta 2GP1 IgG antibodies.
Group 2 consisted of 12 children born to mothers (n = 9) with lupus erythematosus. Three children experienced cutaneous neonatal lupus, but there were no neurodevelopmental disorders. Comparing children of groups 1 and 2, no significant difference was found with regard to the parameters at birth or during follow-up. The children in group 2 had antinuclear antibodies more frequently (p < 0.05).
Conclusion: Autism spectrum disorders could be observed in babies born to mothers with antiphospholipid syndrome, but there is no risk of thrombosis.
Key messages: Neonatal lupus is well-known complication in children born to mothers with systemic lupus erythematosus, but there is no risk of thrombosis in APS-exposed children.
In children of APS mothers the rate of prematurity and small-for-gestational age weight remain high even in treated pregnancy.
The presence of several cases of autism spectrum disorders in APS-exposed children could be related to mother's antibodies exposition, but need to be confirmed. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Abisror, Noemie; Mekinian, Arsene; Fain, Olivier] Univ Paris 13, Hop Jean Verdier Bondy, AP HP, Serv Med Interne, Paris, France.
[Lachassinne, Eric; De Pontual, Loic] Univ Paris 13, Hop Jean Verdier, AP HP, Serv Neonatol & Pediat, Bondy, France.
[Boddaert, Nathalie] Univ Paris 05, Hop Necker Enfants Malad, AP HP, Serv Neuroradiol Pediat, Paris, France.
[Carbillon, Lionel] Univ Paris 13, Hop Jean Verdier, AP HP, Serv Gynecol Obstet, Bondy, France.
RP Mekinian, A (reprint author), Univ Paris 13, Hop Jean Verdier Bondy, AP HP, Serv Med Interne, Paris, France.
EM arsene.mekinian@jvr.aphp.fr
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Boddaert N, 2009, PLOS ONE, V4, DOI 10.1371/journal.pone.0004415
NR 20
TC 5
Z9 5
PU W B SAUNDERS CO-ELSEVIER INC
PI PHILADELPHIA
PA 1600 JOHN F KENNEDY BOULEVARD, STE 1800, PHILADELPHIA, PA 19103-2899 USA
SN 0049-0172
EI 1532-866X
J9 SEMIN ARTHRITIS RHEU
JI Semin. Arthritis Rheum.
PD DEC
PY 2013
VL 43
IS 3
BP 348
EP 351
DI 10.1016/j.semarthrit.2013.07.001
PG 4
WC Rheumatology
SC Rheumatology
GA 277DV
UT WOS:000328800000006
PM 23910451
ER
PT J
AU Menon, V
AF Menon, Vinod
TI Developmental pathways to functional brain networks: emerging principles
SO TRENDS IN COGNITIVE SCIENCES
LA English
DT Review
ID DEFAULT MODE NETWORK; FRONTOTEMPORAL DEMENTIA; STRUCTURAL CONNECTIVITY;
SPECTRUM DISORDERS; PREFRONTAL CORTEX; NEURAL SYNCHRONY; INSULAR CORTEX;
YOUNG-CHILDREN; AUTISM; AMYGDALA
AB The human brain undergoes protracted developmental changes during which it constructs functional networks that engender complex cognitive abilities. Understanding brain function ultimately depends on knowledge of how dynamic interactions between distributed brain regions mature with age to produce sophisticated cognitive systems. This review summarizes recent progress in our understanding of the ontogeny of functional brain networks. Here I describe how complementary methods for probing functional connectivity are providing unique insights into the emergence and maturation of distinct functional networks from childhood to adulthood. I highlight six emerging principles governing the development of large-scale functional networks and discuss how they inform cognitive and affective function in typically developing children and in children with neurodevelopmental disorders.
C1 [Menon, Vinod] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Stanford, CA 94304 USA.
[Menon, Vinod] Stanford Univ, Sch Med, Dept Neurol & Neurol Sci, Stanford, CA 94304 USA.
[Menon, Vinod] Stanford Univ, Sch Med, Program Neurosci, Stanford, CA 94304 USA.
RP Menon, V (reprint author), Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Stanford, CA 94304 USA.
EM menon@stanford.edu
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NR 108
TC 13
Z9 13
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 DEC
PY 2013
VL 17
IS 12
BP 627
EP 640
DI 10.1016/j.tics.2013.09.015
PG 14
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA 276AD
UT WOS:000328719600008
PM 24183779
ER
PT J
AU Rubinov, M
Bullmore, ET
AF Rubinov, Mikail
Bullmore, Edward T.
TI Fledgling pathoconnectomics of psychiatric disorders
SO TRENDS IN COGNITIVE SCIENCES
LA English
DT Review
ID SMALL-WORLD NETWORKS; GRAPH-THEORETICAL ANALYSIS; AUTISM SPECTRUM
DISORDERS; FUNCTIONAL BRAIN NETWORKS; STRUCTURAL CONNECTIVITY;
SCHIZOPHRENIA; CONNECTOMICS; DISEASE; MRI; ORGANIZATION
AB Pathoconnectomics, the mapping of abnormal brain networks, is a popular current framework for the study of brain dysfunction in psychiatric disorders. In this review we evaluate the conceptual foundations of this framework, describe the construction and analysis of empirical models of brain networks or connectomes, and summarize recent reports of the large-scale whole-brain connectome organization of two candidate brain-network disorders, schizophrenia and autism. We consider the evidence for the abnormal brain-network nature of psychiatric disorders and find it inconclusive. For instance, although there is some evidence for more random whole-brain network organization in schizophrenia and autism, future studies need to determine if these and other observed brain-network abnormalities represent sufficient phenotypes of psychiatric disorders, in order to validate pathoconnectomics as a scientific and clinical framework.
C1 [Rubinov, Mikail; Bullmore, Edward T.] Univ Cambridge, Dept Psychiat, Brain Mapping Unit, Cambridge, England.
[Rubinov, Mikail; Bullmore, Edward T.] Univ Cambridge, Dept Psychiat, Behav & Clin Neurosci Inst, Cambridge, England.
[Rubinov, Mikail] Univ Cambridge, Churchill Coll, Cambridge, England.
[Bullmore, Edward T.] GlaxoSmithKline, Addenbrookes Ctr Clin Invest, Clin Unit, Cambridge, England.
RP Rubinov, M (reprint author), Univ Cambridge, Dept Psychiat, Brain Mapping Unit, Cambridge, England.
EM mr572@cam.ac.uk
FU NARSAD Young Investigator Grant; Isaac Newton Trust; Wellcome Trust and
the Medical Research Council
FX We are grateful to Catie Chang, Rolf Ypma, and two anonymous reviewers
for helpful comments on an earlier version of the manuscript. M.R. is
supported by the NARSAD Young Investigator Grant and the Isaac Newton
Trust. E.B. is employed part time by GlaxoSmithKline and part time by
the University of Cambridge. The Behavioural and Clinical Neuroscience
Institute is supported by the Wellcome Trust and the Medical Research
Council.
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NR 107
TC 9
Z9 9
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 DEC
PY 2013
VL 17
IS 12
BP 641
EP 647
DI 10.1016/j.tics.2013.10.007
PG 7
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA 276AD
UT WOS:000328719600009
PM 24238779
ER
PT J
AU Salmina, AB
Lopatina, O
Kuvacheva, NV
Higashida, H
AF Salmina, Alla B.
Lopatina, Olga
Kuvacheva, Natalia V.
Higashida, Haruhiro
TI Integrative Neurochemistry and Neurobiology of Social Recognition and
Behavior Analyzed with Respect to CD38-Dependent Brain Oxytocin
Secretion
SO CURRENT TOPICS IN MEDICINAL CHEMISTRY
LA English
DT Review
DE CD38; oxytocin; social behavior
ID CYCLIC-ADP-RIBOSE; AUTISM SPECTRUM DISORDER; MEDIAL AMYGDALA; RETINOIC
ACID; INTRANASAL OXYTOCIN; ARGININE-VASOPRESSIN; ADULT NEUROGENESIS;
MATERNAL-BEHAVIOR; CYCLASE ACTIVITY; GENE-EXPRESSION
AB This review summarizes the literature and our own data regarding the role of NAD(+)- glycohydrolase/CD38-controlled molecular mechanisms of hypothalamic and pituitary oxytocin secretion in social behavior regulation. Current approaches to the modulation of both CD38 expression and brain cell activity that represent prospective treatments for disorders associated with altered social behavior are discussed.
C1 [Salmina, Alla B.; Higashida, Haruhiro] Kanazawa Univ, Res Ctr Child Mental Dev, Kanazawa, Ishikawa 9208640, Japan.
[Salmina, Alla B.; Lopatina, Olga; Kuvacheva, Natalia V.] Krasnoyarsk State Med Univ, Dept Biochem Med Pharmaceut & Toxicol Chem, Krasnoyarsk, Russia.
RP Higashida, H (reprint author), Kanazawa Univ, Res Ctr Child Mental Dev, Takara Machi 13-1, Kanazawa, Ishikawa 9208640, Japan.
EM haruhiro@med.kanazawa-u.ac.jp
RI Lopatina, Olga/I-9610-2014
FU Ministry of Education and Science of Russian Federation [N 8061]
FX A. B. S., O. L., and N.V. K. have been supported in part by the grant of
the Ministry of Education and Science of Russian Federation, Federal
Program "Scientific and pedagogical specialists..." (project N 8061,
2012-2013).
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NR 181
TC 2
Z9 2
PU BENTHAM SCIENCE PUBL LTD
PI SHARJAH
PA EXECUTIVE STE Y-2, PO BOX 7917, SAIF ZONE, 1200 BR SHARJAH, U ARAB
EMIRATES
SN 1568-0266
EI 1873-4294
J9 CURR TOP MED CHEM
JI Curr. Top. Med. Chem.
PD DEC
PY 2013
VL 13
IS 23
BP 2965
EP 2977
PG 13
WC Chemistry, Medicinal
SC Pharmacology & Pharmacy
GA 265HY
UT WOS:000327942600007
PM 24171771
ER
PT J
AU Ramos, M
Boada, L
Moreno, C
Llorente, C
Romo, J
Parellada, M
AF Ramos, M.
Boada, L.
Moreno, C.
Llorente, C.
Romo, J.
Parellada, M.
TI Attitude and risk of substance use in adolescents diagnosed with
Asperger syndrome
SO DRUG AND ALCOHOL DEPENDENCE
LA English
DT Article
DE Substance use; Personality; Autism; Asperger; Adolescents
ID ALCOHOL-USE; DRUG-USE; SEX; AGE
AB Background: Adolescence is a stage of development with increased risk of drug use. Individual personality traits are among those factors that influence the onset of substance use in adolescence and its psychiatric comorbidity. Little research has been done on the comorbidity between substance abuse risk and Asperger syndrome, and none specifically in adolescence. The objective of this study is to assess the risk of drug use by adolescents with Asperger syndrome and compare it with that risk in control subjects. A secondary objective was to analyze the personality factors that may be associated with substance use in the same two groups.
Methods: We used three self-administered questionnaires, one for drug risk assessment (FRIDA) and the other two for personality trait assessment (MACI and SSS-V).
Results: Adolescents diagnosed with Asperger syndrome are at less risk for drug use derived from family and access to drugs factors. Subjects with Asperger syndrome did score higher on introversive, inhibited, doleful, and borderline tendency prototypes than healthy controls, and scored lower on all sensation-seeking traits. Being male, a diagnosis of Asperger syndrome, and unruly, introversive, and sensation-seeking traits were all independently associated with the risk of drug abuse.
Conclusions: Both identified personality factors and other variables associated with the Asperger syndrome contribute to the low risk of drug abuse observed in this population. Exploring protective factors for drug use in these subjects may prove useful for interventions with adolescents at risk for consumption. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
C1 [Ramos, M.; Boada, L.; Moreno, C.; Llorente, C.; Romo, J.; Parellada, M.] Hosp Gen Univ Gregorio Maranon, Child & Adolescent Psychiat Dept, Madrid 28009, Spain.
[Moreno, C.; Llorente, C.; Parellada, M.] Hosp Gen Univ Gregorio Maranon, Child & Adolescent Psychiat Dept, CIBERSAM, IISGM, Madrid 28009, Spain.
RP Ramos, M (reprint author), Hosp Gen Univ Gregorio Maranon, Child & Adolescent Psychiat Dept, C Ibiza 43, Madrid 28009, Spain.
EM mariaramosrdguez@yahoo.es
FU Spanish Ministry of Economy and Competitiveness; Instituto de Salud
Carlos III; CIBER-SAM; Madrid Regional Govermment [S2010/BMD-2422 AGES];
European Union; Fundacion Alicia Koplowitz; Fundacion Mutua Madrilena
FX Funding for this study was provided by the Spanish Ministry of Economy
and Competitiveness. Instituto de Salud Carlos III, CIBER-SAM. Madrid
Regional Govermment (S2010/BMD-2422 AGES) and European Union Structural
Funds, Fundacion Alicia Koplowitz and Fundacion Mutua Madrilena. These
institutions had no further role in study design; in the collection,
analysis and interpretation of data; in the writing of the report; or in
the decision to submit the paper for publication.
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NR 37
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0376-8716
EI 1879-0046
J9 DRUG ALCOHOL DEPEN
JI Drug Alcohol Depend.
PD DEC 1
PY 2013
VL 133
IS 2
BP 535
EP 540
DI 10.1016/j.drugalcdep.2013.07.022
PG 6
WC Substance Abuse; Psychiatry
SC Substance Abuse; Psychiatry
GA 269KT
UT WOS:000328240900033
PM 23962420
ER
PT J
AU Shahid, A
AF Shahid, Asim
TI Resecting the epileptogenic tuber: What happens in the long term?
SO EPILEPSIA
LA English
DT Article
DE Tuberous sclerosis; Epileptogenic tuber; Epilepsy surgery; Outcome
ID POSITRON-EMISSION-TOMOGRAPHY; SCLEROSIS COMPLEX; EPILEPSY SURGERY;
SURGICAL-TREATMENT; CHILDREN; FOCI; EEG
AB Tuberous sclerosis complex (TSC) is an autosomal dominant, neurocutaneous disorder causing benign noninvasive lesions in multiple organ systems. Cognitive delays and neuropsychiatric disorders such as autism are common. Epilepsy is very common and is associated with single or multiple epileptogenic cortical tubers. More than half of these individuals will become medically refractory over time. For these patients, epilepsy surgery with resection of the epileptogenic tuber or tubers not only can render a select patient population seizure-free, but also improves IQ and cognitive behaviors over time.
C1 Rainbow Babies & Childrens Hosp, Div Pediat Epilepsy, Univ Hosp Case Med Ctr, Cleveland, OH 44106 USA.
RP Shahid, A (reprint author), Rainbow Babies & Childrens Hosp, Div Pediat Epilepsy, Univ Hosp Case Med Ctr, 11100 Euclid Ave, Cleveland, OH 44106 USA.
EM asim.shahid@uhhospitals.org
CR Chugani DC, 1998, ANN NEUROL, V44, P858, DOI 10.1002/ana.410440603
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Zhang K, 2013, EPILEPSY RES, V105, P377, DOI 10.1016/j.eplepsyres.2013.02.016
NR 25
TC 2
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 DEC
PY 2013
VL 54
SU 9
SI SI
BP 135
EP 138
DI 10.1111/epi.12458
PG 4
WC Clinical Neurology
SC Neurosciences & Neurology
GA 268ZT
UT WOS:000328210200024
PM 24328887
ER
PT J
AU Zulkifli, ZF
Regan, R
Anney, RJ
Gallagher, L
Ennis, S
AF Zulkifli, Z. F.
Regan, R.
Anney, R. J.
Gallagher, L.
Ennis, S.
TI HIGH RESOLUTION GENETIC ANALYSIS IN PAEDIATRIC AUTISM SPECTRUM DISORDER
SO IRISH JOURNAL OF MEDICAL SCIENCE
LA English
DT Meeting Abstract
C1 [Zulkifli, Z. F.; Regan, R.; Ennis, S.] Natl Univ Ireland Univ Coll Dublin, UCD Sch Med & Med Sci, Dublin 4, Ireland.
[Regan, R.] Natl Childrens Res Ctr, Dublin 12, Ireland.
[Anney, R. J.; Gallagher, L.] Trinity Coll Dublin, Dept Psychiat, Dublin 1, Ireland.
NR 0
TC 0
Z9 0
PU SPRINGER LONDON LTD
PI LONDON
PA 236 GRAYS INN RD, 6TH FLOOR, LONDON WC1X 8HL, ENGLAND
SN 0021-1265
EI 1863-4362
J9 IRISH J MED SCI
JI Irish J. Med. Sci.
PD DEC
PY 2013
VL 182
SU 11
BP S499
EP S499
PG 1
WC Medicine, General & Internal
SC General & Internal Medicine
GA 270VM
UT WOS:000328347300027
ER
PT J
AU Mamidala, MP
Polinedi, A
Kumar, PTVP
Rajesh, N
Vallamkonda, OR
Udani, V
Singhal, N
Rajesh, V
AF Mamidala, Madhu Poornima
Polinedi, Anupama
Kumar, P. T. V. Praveen
Rajesh, N.
Vallamkonda, OmSai Ramesh
Udani, Vrajesh
Singhal, Nidhi
Rajesh, Vidya
TI Maternal hormonal interventions as a risk factor for Autism Spectrum
Disorder: An epidemiological assessment from India
SO JOURNAL OF BIOSCIENCES
LA English
DT Article
DE Autism Spectrum Disorder; India; infertility; hormonal interventions;
risk factors
ID ASSISTED CONCEPTION; BRAIN-DEVELOPMENT; CHILDREN BORN; COMPLICATIONS
AB Globalization and women empowerment have led to stressful life among Indian women. This stress impairs women's hormonal makeup and menstrual cycle, leading to infertility. National Family Health Survey-3 (NFHS-3) reports a decline in fertility status in India, indicating a rise in various infertility treatments involving hormonal interventions. No studies are available from India on the risk association link between maternal hormonal treatments and ASD. Hence, this study explores the association of maternal hormonal interventions with risk for ASD. Parents of 942 children (471 ASD and 471 controls) across 9 cities in India participated in the questionnaire-based study. The questionnaire was pilot tested and validated for its content and reliability as a psychometric instrument. Data collection was done at 70 centres through direct interaction with parents and with the help of trained staff. Statistical analysis of data was carried out using SAS 9.1.3. Out of the 471 ASD cases analysed, 58 mothers had undergone hormonal interventions (12.3%) while there were only 22 mothers among controls who underwent hormonal interventions (4.6%). According to logistic regression analysis maternal hormonal intervention (OR=2.24) was a significant risk factor for ASD.
C1 [Mamidala, Madhu Poornima; Polinedi, Anupama; Rajesh, Vidya] Birla Inst Technol & Sci Pilani Hyderabad Campus, Dept Biol Sci, Hyderabad 500078, Andhra Pradesh, India.
[Kumar, P. T. V. Praveen] Birla Inst Technol & Sci Pilani Hyderabad Campus, Dept Math, Hyderabad 500078, Andhra Pradesh, India.
[Rajesh, N.] Birla Inst Technol & Sci Pilani Hyderabad Campus, Dept Chem, Hyderabad 500078, Andhra Pradesh, India.
[Vallamkonda, OmSai Ramesh] NIMH, Dept Med Sci, Manovikasnagar 500009, Secunderabad, India.
[Udani, Vrajesh] PD Hinduja Natl Hosp & Med Res Ctr, Bombay 400016, Maharashtra, India.
[Singhal, Nidhi] Natl Ctr Autism, AFA, New Delhi 110025, India.
RP Rajesh, V (reprint author), Birla Inst Technol & Sci Pilani Hyderabad Campus, Dept Biol Sci, Hyderabad 500078, Andhra Pradesh, India.
EM vidya_nrajesh@yahoo.com
FU University Grants Commission, India; Department of Science and
Technology, India
FX Preliminary results from this work were presented at the European Human
Genetics Conference, 28- 31 May, 2011, Amsterdam, the Netherlands.
Abstracts are published in the European Journal of Human Genetics,
volume 19, supplement 2, May 2011. This research was completely funded
by University Grants Commission, India. We would also like to extend our
acknowledgements to the Department of Science and Technology, India, for
funding with Inspire fellowship. We would like to thank Dr M Gowri Devi,
Professor and Head of the Department of Psychiatry, Niloufer Hospital,
for permitting data collection. Our extended appreciation to Mr
Shankaran, Mr CN Rahul, Ms N Geetanjali and Mr S Kalidasan for helping
us in the collection of control questionnaires. Our sincere gratitude to
various Autism schools, therapy centres and organizations in India, for
extending their support to our data collection and to carry out the
research successfully.
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NR 27
TC 0
Z9 0
PU INDIAN ACAD SCIENCES
PI BANGALORE
PA C V RAMAN AVENUE, SADASHIVANAGAR, P B #8005, BANGALORE 560 080, INDIA
SN 0250-5991
EI 0973-7138
J9 J BIOSCIENCES
JI J. Biosci.
PD DEC
PY 2013
VL 38
IS 5
BP 887
EP 892
DI 10.1007/s12038-013-9376-x
PG 6
WC Biology
SC Life Sciences & Biomedicine - Other Topics
GA 270MQ
UT WOS:000328322900008
PM 24296891
ER
PT J
AU Robertson, K
Stafford, T
Benedicto, J
Hocking, N
AF Robertson, Kerry
Stafford, Tara
Benedicto, Joaquin
Hocking, Nigel
TI Autism assessment: The Melton Health model
SO JOURNAL OF PAEDIATRICS AND CHILD HEALTH
LA English
DT Article
DE child development disorder; child health service; diagnosis; pervasive
ID SPECTRUM DISORDERS; CHILDREN; STANDARDS; DIAGNOSIS
AB AimThe following paper describes the Autism Spectrum Assessment Clinic which operates at Melton Health, a publically funded health service in Melbourne's west.
MethodsA retrospective audit of 234 children assessed between 2007 and 2012 in the Autism Spectrum Assessment Clinic was undertaken. Characteristics of the children assessed (age, sex, locality, referral source) were examined along with characteristics of the clinic (clinicians, assessment outcome).
ResultsA detailed description of the model is provided, including evident changes since the clinic began. Data were split between the 2007 to 2009 and 2010 to 2012 time periods to reflect changes in the operation of the clinic. Overall, 48 girls and 186 boys were assessed with a mean age of 71 months; the average waiting time between referral and assessment was 136.6 days. Across the two time periods, the proportion of children receiving a diagnosis of autism spectrum disorder increased from 43.1% to 66.3%. Changes are evident in the referral sources between the two time periods, and in the disciplines of clinicians involved in the assessment.
ConclusionsThe research illustrates an assessment model, within the Victorian public health context, which currently operates effectively according to best-practice guidelines. This research begins to fill a gap between localised clinical practice and the dissemination of this information to a wider audience, allowing for comparison for other assessment providers. It is hoped that we can contribute more broadly to future assessment processes becoming more consistent, reproducible and equitable for children suspected of having autism spectrum disorders.
C1 [Robertson, Kerry; Stafford, Tara; Benedicto, Joaquin; Hocking, Nigel] Melton Hlth, Djerriwarrh Hlth Serv, Melton West, Vic 3338, Australia.
RP Robertson, K (reprint author), Melton Hlth, Paediat Program, 195-209 Barries Rd, Melton West, Vic 3338, Australia.
EM kerryr@djhs.org.au
CR Australian Bureau of Statistics, 2011, 2011 CENS COMM PROF
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NR 24
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1034-4810
EI 1440-1754
J9 J PAEDIATR CHILD H
JI J. Paediatr. Child Health
PD DEC
PY 2013
VL 49
IS 12
BP 1057
EP 1062
DI 10.1111/jpc.12303
PG 6
WC Pediatrics
SC Pediatrics
GA 269EX
UT WOS:000328225400013
PM 23782166
ER
PT J
AU McKown, C
Allen, AM
Russo-Ponsaran, NM
Johnson, JK
AF McKown, Clark
Allen, Adelaide M.
Russo-Ponsaran, Nicole M.
Johnson, Jason K.
TI Direct Assessment of Children's Social-Emotional Comprehension
SO PSYCHOLOGICAL ASSESSMENT
LA English
DT Article
DE social-emotional learning; child assessment; emotion recognition; theory
of mind; social problem solving
ID OF-MIND DEVELOPMENT; FACIAL EXPRESSIONS; PERSPECTIVE-TAKING;
ASPERGERS-SYNDROME; AUTISM; VALIDATION; ADJUSTMENT; COMPETENCE;
VALIDITY; INTERVENTION
AB Social-emotional comprehension includes the ability to encode, interpret, and reason about social-emotional information. The better developed children's social-emotional comprehension, the more positive their social interactions and the better their peer relationships. Many clinical tools exist to assess children's social behavior. In contrast, fewer clinically interpretable tools are available to assess children's social-emotional comprehension. This study evaluated the psychometric properties of a group of direct assessments of social-emotional comprehension. Scores on these assessments reflected children's performance on challenging tasks that required them to demonstrate their social-emotional comprehension. In 2 independent samples, including a general education school sample (n = 174) and a clinic sample (n = 119), this study provided evidence that (a) individual assessments yield variably reliable scores, (b) composite scores are highly reliable, (c) direct assessments demonstrate a theoretically coherent factor structure and convergent and discriminant validity, and (d) composite scores yield expected age-and diagnostic-group differences. Implications for clinical practice, theory, and assessment development are discussed.
C1 [McKown, Clark; Allen, Adelaide M.; Russo-Ponsaran, Nicole M.; Johnson, Jason K.] Rush Univ, Dept Behav Sci, Med Ctr, Skokie, IL 60076 USA.
RP McKown, C (reprint author), Rush Univ, Dept Behav Sci, Med Ctr, RNBC 4711 Golf Rd,Suite 1100, Skokie, IL 60076 USA.
EM Clark_A_McKown@rush.edu
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NR 84
TC 0
Z9 0
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 1040-3590
EI 1939-134X
J9 PSYCHOL ASSESSMENT
JI Psychol. Assess.
PD DEC
PY 2013
VL 25
IS 4
BP 1154
EP 1166
DI 10.1037/a0033435
PG 13
WC Psychology, Clinical
SC Psychology
GA 270KL
UT WOS:000328317200011
PM 23815117
ER
PT J
AU Liu, YH
Lai, WS
Tsay, HJ
Wang, TW
Yu, JY
AF Liu, Yuan-Hsuan
Lai, Wen-Sung
Tsay, Huey-Jen
Wang, Tsu-Wei
Yu, Jenn-Yah
TI Effects of maternal immune activation on adult neurogenesis in the
subventricular zone-olfactory bulb pathway and olfactory discrimination
SO SCHIZOPHRENIA RESEARCH
LA English
DT Article
DE Adult neurogenesis; Subventricular zone; Olfactory bulb; Olfaction
Prenatal immune activation; Schizophrenia
ID HIPPOCAMPAL NEUROGENESIS; PRENATAL EXPOSURE; FETAL-BRAIN;
NEURODEVELOPMENTAL DAMAGE; FUNCTIONAL IMPLICATIONS; CEREBRAL-PALSY;
STEM-CELLS; SCHIZOPHRENIA; INFECTION; NEURONS
AB Maternal infection and maternal immune activation (MIA) during pregnancy increase risks for psychiatric disorders such as schizophrenia and autism. Many deficits related to psychiatric disorders are observed in adult offspring of MIA animal models, including behavioral abnormalities, morphological defects in various brain regions, and dysregulation of neurotransmitter systems. It has previously been shown that MIA impairs adult neurogenesis in the dentate gyrus of the hippocampus. In this study, we examined whether MIA affects adult neurogenesis in the subventricular zone (SVZ)-olfactory bulb (OB) pathway. Polyinosinic-polycytidylic acid (PolyI:C), a synthetic analog of double-stranded RNA mimicking viral infection, was injected into pregnant mice on gestation clay 9.5 to activate immune systems. In the SVZ-OB pathway of adult offspring, different cell types of the neural stem cell lineage responded differently to MIA. Neural stem cells and neuroblasts were decreased Cell proliferation of transit-amplifying cells was impaired. Consequently, newborn neurons were reduced in the OB. Olfactory deficiency has been suggested as a biomarker for schizophrenia. Here we found that olfactory discrimination was compromised in adult MIA offspring. Taken together, these findings show that MIA leads to defective adult neurogenesis in the SVZ-OB pathway, and the impairment of adult neurogenesis may lead to deficits in olfactory functions. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Liu, Yuan-Hsuan; Yu, Jenn-Yah] Natl Yang Ming Univ, Dept Life Sci, Taipei 112, Taiwan.
[Lai, Wen-Sung] Natl Taiwan Univ, Dept Psychol, Taipei 106, Taiwan.
[Lai, Wen-Sung] Natl Taiwan Univ, Grad Inst Brain & Mind Sci, Taipei 106, Taiwan.
[Lai, Wen-Sung] Natl Taiwan Univ, Neurobiol & Cognit Sci Ctr, Taipei 106, Taiwan.
[Tsay, Huey-Jen] Natl Yang Ming Univ, Inst Neurosci, Taipei 112, Taiwan.
[Wang, Tsu-Wei] Natl Taiwan Normal Univ, Dept Life Sci, Taipei 116, Taiwan.
[Tsay, Huey-Jen; Wang, Tsu-Wei; Yu, Jenn-Yah] Natl Yang Ming Univ, Brain Res Ctr, Taipei 112, Taiwan.
RP Tsay, HJ (reprint author), Natl Yang Ming Univ, Inst Neurosci, Taipei 112, Taiwan.
EM hjtsay@ym.edu.tw; twwang@ntnu.edu.tw; jyyu@ym.edu.tw
FU National Science Council [101-2311-B-010-007-MY3, 101-2320-B-003-001,
99-2320-B-010-012-MY3, 99-2410-H-002-088-MY3, 102-2420-H-002-088-MY3];
National Taiwan Normal University (NTNU), Yen Thug king Medical
Foundation [NTNU-100-0-02]; Ministry of Education, Aim for the Top
University Plan from National Yang-Ming University (NYNU); National
Science Council and Imaging Core of NYMU
FX We thank Dr. Ming-Ji Fann and Dr. Irene H. Cheng for helpful discussion
and technical support. This research is funded by the National Science
Council Grants 101-2311-B-010-007-MY3, 101-2320-B-003-001,
99-2320-B-010-012-MY3, 99-2410-H-002-088-MY3, and
102-2420-H-002-088-MY3, NTNU-100-0-02 from National Taiwan Normal
University (NTNU), Yen Thug king Medical Foundation, and a grant from
the Ministry of Education, Aim for the Top University Plan from National
Yang-Ming University (NYNU). We thank the Animal Behavioral Core at the
Brain Research Center of NYMU for behavioral studies, and the Molecular
Image Core of NTNU under the auspices of the National Science Council
and Imaging Core of NYMU for imaging analysis.
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NR 70
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0920-9964
EI 1573-2509
J9 SCHIZOPHR RES
JI Schizophr. Res.
PD DEC
PY 2013
VL 151
IS 1-3
BP 1
EP 11
DI 10.1016/j.schres.2013.09.007
PG 11
WC Psychiatry
SC Psychiatry
GA 263GL
UT WOS:000327795300001
PM 24113206
ER
PT J
AU Opler, M
Malaspina, D
Gopal, S
Nuamah, I
Savitz, AJ
Singh, J
Hough, D
AF Opler, Mark
Malaspina, Dolores
Gopal, Srihari
Nuamah, Isaac
Savitz, Adam J.
Singh, Jaskaran
Hough, David
TI Effect of parental age on treatment response in adolescents with
schizophrenia
SO SCHIZOPHRENIA RESEARCH
LA English
DT Article
DE Adolescents; Paternal age; Schizophrenia; Treatment response; Placebo;
Heterogeneity
ID DE-NOVO MUTATIONS; SELFISH SPERMATOGONIAL SELECTION; PATERNAL AGE; RISK;
DISORDERS; INTELLIGENCE; SYMPTOMS; VALIDITY; DISEASE; AUTISM
AB Background: Advanced paternal age (APA) is associated with increased risk for schizophrenia, but its effect on treatment response has not been longitudinally studied.
Methods: Association of parental ages at the time of the child's birth with age of onset, initial symptom severity and treatment response (to placebo and three different weight-based doses of paliperidone ER) in adolescents with schizophrenia was assessed in a post-hoc analysis using data from a 6-week double-blind study, the primary results of which are published (NCT00518323).
Results: The mean (SD) paternal age was 29.2 (6.2) years, range (16-50) and maternal age was 26.8 (5.7) years, range (17-42) at childbirth for the 201 adolescents (ages 12-17 years) included in the analysis. While parental ages were uncorrelated with age of onset or initial symptom severity, both maternal and paternal ages showed significant effects on treatment response (p < 0.03) of all paliperidone ER arms versus placebo. Paternal age was significantly correlated to improvement in positive symptoms and maternal age significantly related to negative symptoms, although only paternal age remained significantly associated with the treatment response in analyses that included both parents' ages.
Conclusions: APA was associated with greater treatment response to both paliperidone ER and placebo, but not to age of onset or initial symptom severity in adolescents with schizophrenia. The results support the contention that APA-related schizophrenia has distinct underpinnings from other cases. Further studies are required to explore the role of genetic and environmental factors, and their interactions, in treatment response in this complex disorder. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Opler, Mark; Malaspina, Dolores] NYU, Sch Med, Dept Psychiat, InSPIRES, New York, NY 10016 USA.
[Gopal, Srihari; Nuamah, Isaac; Savitz, Adam J.; Singh, Jaskaran; Hough, David] Janssen Res & Dev LLC, Raritan, NJ USA.
RP Opler, M (reprint author), NYU, Sch Med, Dept Psychiat, InSPIRES, 562 1st Ave, New York, NY 10016 USA.
EM mark.opler@ProPhase.com
FU Janssen Research & Development, LLC, Raritan, NJ, USA
FX This work is funded by Janssen Research & Development, LLC (formerly
known as Johnson & Johnson Pharmaceutical Research & Development, LLC.)
Raritan, NJ, USA.
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NR 32
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0920-9964
EI 1573-2509
J9 SCHIZOPHR RES
JI Schizophr. Res.
PD DEC
PY 2013
VL 151
IS 1-3
BP 185
EP 190
DI 10.1016/j.schres.2013.10.001
PG 6
WC Psychiatry
SC Psychiatry
GA 263GL
UT WOS:000327795300025
PM 24144440
ER
PT J
AU Dovey, TM
Aldridge, VK
Martin, CI
AF Dovey, Terence M.
Aldridge, Victoria K.
Martin, Clarissa I.
TI Measuring Oral Sensitivity in Clinical Practice: A Quick and Reliable
Behavioural Method
SO DYSPHAGIA
LA English
DT Article
DE Dysphagia; Tactile sensitivity; Oral sensitivity; Treatment; Assessment;
Task analysis; Deglutition; Deglutition disorders
ID SENSORY PROFILE; DIURNAL BRUXISM; CHILDREN; AUTISM; PHOBIA;
INTERVENTION; DISABILITIES; DISORDERS
AB This article aims to offer a behavioural assessment strategy for oral sensitivity that can be readily applied in the clinical setting. Four children, ranging in age and with a variety of developmental and medical problems, were used as test cases for a task analysis of tolerance to touch probes in and around the mouth. In all cases, the assessment was sensitive to weekly measures of an intervention for oral sensitivity over a 3-week period. Employing an inexpensive, direct, specific to the individual, replicable, reliable, and effective measure for a specific sensory problem would fit better with the edicts of evidence-based practice. The current method offered the initial evidence towards this goal.
C1 [Dovey, Terence M.; Aldridge, Victoria K.; Martin, Clarissa I.] Univ Loughborough, LUCRED, Sch Sport Exercise & Hlth Sci, Loughborough LE11 3TU, Leics, England.
[Aldridge, Victoria K.] UCL, Inst Child Hlth, London WC1N 1EH, England.
[Martin, Clarissa I.] Midlands Psychol, Lichfield WS13 6AQ, Staffs, England.
RP Dovey, TM (reprint author), Univ Loughborough, LUCRED, Sch Sport Exercise & Hlth Sci, Brockington Bldg, Loughborough LE11 3TU, Leics, England.
EM t.m.dovey@lboro.ac.uk
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NR 42
TC 1
Z9 1
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0179-051X
EI 1432-0460
J9 DYSPHAGIA
JI Dysphagia
PD DEC
PY 2013
VL 28
IS 4
BP 501
EP 510
DI 10.1007/s00455-013-9460-2
PG 10
WC Otorhinolaryngology
SC Otorhinolaryngology
GA 269CK
UT WOS:000328217900004
PM 23515637
ER
PT J
AU Buitelaar, JK
Coghill, DR
AF Buitelaar, Jan K.
Coghill, David R.
TI Brain imaging: closing the gap between basic research and clinical
application is urgently needed
SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
LA English
DT Editorial Material
ID AMYGDALA ACTIVATION; AUTISM SPECTRUM; METAANALYSIS; DISORDERS;
CONNECTIVITY; GENOTYPE; 5-HTTLPR
C1 [Buitelaar, Jan K.] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Cognit Neurosci, NL-6500 HB Nijmegen, Netherlands.
[Buitelaar, Jan K.] Karakter Child & Adolescent Psychiat, Nijmegen, Netherlands.
[Coghill, David R.] Univ Dundee, Ninewells Hosp, Med Res Inst, Div Neurosci, Dundee, Scotland.
RP Buitelaar, JK (reprint author), Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Cognit Neurosci, POB 9101, NL-6500 HB Nijmegen, Netherlands.
EM jan.buitelaar@radboudumc.nl
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NR 20
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 DEC
PY 2013
VL 22
IS 12
BP 715
EP 717
DI 10.1007/s00787-013-0493-8
PG 3
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA 268XT
UT WOS:000328204800001
PM 24297676
ER
PT J
AU Rinne-Albers, MAW
van der Wee, NJA
Lamers-Winkelman, F
Vermeiren, RRJM
AF Rinne-Albers, Mirjam A. W.
van der Wee, Nic J. A.
Lamers-Winkelman, Francien
Vermeiren, Robert R. J. M.
TI Neuroimaging in children, adolescents and young adults with
psychological trauma
SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
LA English
DT Review
DE Neuroimaging; Trauma; Childhood; Adolescence; Review
ID POSTTRAUMATIC-STRESS-DISORDER; COGNITIVE-BEHAVIOR THERAPY; PARENTAL
VERBAL ABUSE; GRAY-MATTER VOLUME; HIPPOCAMPAL VOLUME; CORPUS-CALLOSUM;
ANTERIOR CINGULATE; PREFRONTAL CORTEX; ANXIETY DISORDERS;
BRAIN-DEVELOPMENT
AB Childhood psychological trauma is a strong predictor of psychopathology. Preclinical research points to the influence of this type of trauma on brain development. However, the effects of psychological trauma on the developing human brain are less known and a challenging question is whether the effects can be reversed or even prevented. The aim of this review is to give an overview of neuroimaging studies in traumatized juveniles and young adults up till 2012. Neuroimaging studies in children and adolescents with traumatic experiences were found to be scarce. Most studies were performed by a small number of research groups in the United States and examined structural abnormalities. The reduction in hippocampal volume reported in adults with PTSD could not be confirmed in juveniles. The most consistent finding in children and adolescents, who experienced psychological trauma are structural abnormalities of the corpus callosum. We could not identify any studies investigating treatment effects. Neuroimaging studies in traumatized children and adolescents clearly lag behind studies in traumatized adults as well as studies on ADHD and autism.
C1 [Rinne-Albers, Mirjam A. W.; Vermeiren, Robert R. J. M.] Curium LUMC, Acad Ctr Child & Adolescent Psychiat, NL-2342 AK Oegstgeest, Netherlands.
[van der Wee, Nic J. A.; Vermeiren, Robert R. J. M.] LUMC, Dept Psychiat, Leiden, Netherlands.
[van der Wee, Nic J. A.; Vermeiren, Robert R. J. M.] LUMC, Leiden Inst Brain & Cognit, Leiden, Netherlands.
[Lamers-Winkelman, Francien; Vermeiren, Robert R. J. M.] Vrije Univ Amsterdam, Fac Psychol & Educ, Amsterdam, Netherlands.
[Lamers-Winkelman, Francien] Kinder Jeugd Traumactr KJTC, Haarlem, Netherlands.
RP Rinne-Albers, MAW (reprint author), Curium LUMC, Acad Ctr Child & Adolescent Psychiat, Endegeesterstr Weg 27, NL-2342 AK Oegstgeest, Netherlands.
EM m.a.w.rinne@curium.nl
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NR 61
TC 4
Z9 4
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 DEC
PY 2013
VL 22
IS 12
BP 745
EP 755
DI 10.1007/s00787-013-0410-1
PG 11
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA 268XT
UT WOS:000328204800004
PM 23553572
ER
PT J
AU Glatt, SJ
AF Glatt, Stephen J.
TI How Should We Interpret and Value the Pursuit of Blood-Based Biomarkers
for Autism Spectrum Disorders?
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Editorial Material
C1 [Glatt, Stephen J.] State Univ New York SUNY Upstate Med Ctr, Syracuse, NY USA.
RP Glatt, SJ (reprint author), SUNY Upstate Med Univ, Dept Psychiat & Behav Sci, 750 East Adams St, Syracuse, NY 13210 USA.
EM glatts@upstate.edu
CR Alter MD, 2011, PLOS ONE, V6, DOI 10.1371/journal.pone.0016715
Glatt SJ, 2012, J AM ACAD CHILD PSY, V51, P934, DOI [10.1016/j.jaac.2012.07.007, 10.1016/j.jaac.2011.07.007]
Gregg JP, 2008, GENOMICS, V91, P22, DOI 10.1016/j.ygeno.2007.09.003
Kong SW, 2012, PLOS ONE, V7, DOI 10.1371/journal.pone.0049475
Kuwano Y, 2011, PLOS ONE, V6, DOI 10.1371/journal.pone.0024723
NR 5
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 DEC
PY 2013
VL 52
IS 12
BP 1248
EP 1250
DI 10.1016/j.jaac.2013.08.022
PG 3
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA 266HG
UT WOS:000328014100002
PM 24290455
ER
PT J
AU Perlman, SB
Fournier, JC
Bebko, G
Bertocci, MA
Hinze, AK
Bonar, L
Almeida, JRC
Versace, A
Schirda, C
Travis, M
Gill, MK
Demeter, C
Diwadkar, VA
Sunshine, JL
Holland, SK
Kowatch, RA
Birmaher, B
Axelson, D
Horwitz, SM
Arnold, LE
Fristad, MA
Youngstrom, EA
Findling, RL
Phillips, ML
AF Perlman, Susan B.
Fournier, Jay C.
Bebko, Genna
Bertocci, Michele A.
Hinze, Amanda K.
Bonar, Lisa
Almeida, Jorge R. C.
Versace, Amelia
Schirda, Claudiu
Travis, Michael
Gill, Mary Kay
Demeter, Christine
Diwadkar, Vaibhav A.
Sunshine, Jeffrey L.
Holland, Scott K.
Kowatch, Robert A.
Birmaher, Boris
Axelson, David
Horwitz, Sarah M.
Arnold, L. Eugene
Fristad, Mary A.
Youngstrom, Eric A.
Findling, Robert L.
Phillips, Mary L.
TI Emotional Face Processing in Pediatric Bipolar Disorder: Evidence for
Functional Impairments in the Fusiform Gyrus
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE emotion; face processing; functional magnetic resonance imaging (fMRI);
fusiform gyrus; pediatric bipolar disorder
ID SEVERE MOOD DYSREGULATION; MANIC SYMPTOMS LAMS; LABELING DEFICITS;
LONGITUDINAL ASSESSMENT; FACIAL EXPRESSIONS; SOCIAL-PERCEPTION; AMYGDALA
ACTIVITY; NEURAL CIRCUITRY; GAZE-DIRECTION; CHILDREN
AB Objective: Pediatric bipolar disorder involves poor social functioning, but the neural mechanisms underlying these deficits are not well understood. Previous neuroimaging studies have found deficits in emotional face processing localized to emotional brain regions. However, few studies have examined dysfunction in other regions of the face processing circuit. This study assessed hypoactivation in key face processing regions of the brain in pediatric bipolar disorder. Method: Youth with a bipolar spectrum diagnosis (n = 20) were matched to a nonbipolar clinical group (n = 20), with similar demographics and comorbid diagnoses, and a healthy control group (n = 20). Youth participated in a functional magnetic resonance imaging (fMRI) scanning which employed a task-irrelevant emotion processing design in which processing of facial emotions was not germane to task performance. Results: Hypoactivation, isolated to the fusiform gyrus, was found when viewing animated, emerging facial expressions of happiness, sadness, fearfulness, and especially anger in pediatric bipolar participants relative to matched clinical and healthy control groups. Conclusions: The results of the study imply that differences exist in visual regions of the brain's face processing system and are not solely isolated to emotional brain regions such as the amygdala. Findings are discussed in relation to facial emotion recognition and fusiform gyrus deficits previously reported in the autism literature. Behavioral interventions targeting attention to facial stimuli might be explored as possible treatments for bipolar disorder in youth.
C1 [Perlman, Susan B.; Fournier, Jay C.; Bebko, Genna; Bertocci, Michele A.; Hinze, Amanda K.; Bonar, Lisa; Almeida, Jorge R. C.; Versace, Amelia; Schirda, Claudiu; Travis, Michael; Gill, Mary Kay; Birmaher, Boris; Axelson, David; Phillips, Mary L.] Univ Pittsburgh, Western Psychiat Inst & Clin, Med Ctr, Pittsburgh, PA 15260 USA.
[Phillips, Mary L.] Cardiff Univ, Cardiff CF10 3AX, S Glam, Wales.
[Demeter, Christine; Sunshine, Jeffrey L.; Findling, Robert L.] Case Western Reserve Univ, Univ Hosp Case Med Ctr, Cleveland, OH 44106 USA.
[Findling, Robert L.] Johns Hopkins Univ, Baltimore, MD 21218 USA.
[Diwadkar, Vaibhav A.] Wayne State Univ, Detroit, MI 48202 USA.
[Holland, Scott K.] Univ Cincinnati, Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45221 USA.
[Kowatch, Robert A.] Nationwide Childrens Hosp, Res Inst, Columbus, OH USA.
[Horwitz, Sarah M.] NYU, Sch Med, New York, NY 10003 USA.
[Arnold, L. Eugene; Fristad, Mary A.] Ohio State Univ, Columbus, OH 43210 USA.
[Youngstrom, Eric A.] Univ N Carolina, Chapel Hill, NC USA.
RP Perlman, SB (reprint author), Western Psychiat Inst & Clin, Loeffler Bldg,Room 121,121 Meyran Ave, Pittsburgh, PA 15213 USA.
EM perlmansb2@upmc.edu
FU National Institute of Mental Health (NIMH) [2R01 MH73953-06A1, 1K01
MH094467, 2R01 MH73816-06A1, 2R01 MH73967-06A1, 2R01 MH73801-06A1]
FX This research was supported by the National Institute of Mental Health
(NIMH) grants 2R01 MH73953-06A1 (B.B., M.L.P.), 1K01 MH094467 (S B.P.),
2R01 MH73816-06A1 (S.K H., R.A K.), 2R01 MH73967-06A1 (R L.F.), and 2R01
MH73801-06A1 (M.A.F.).
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NR 59
TC 4
Z9 4
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 DEC
PY 2013
VL 52
IS 12
BP 1314
EP 1325
DI 10.1016/j.jaac.2013.09.004
PG 12
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA 266HG
UT WOS:000328014100011
PM 24290464
ER
PT J
AU Reid, AK
DeMarco, G
Smith, K
Fort, T
Cousins, E
AF Reid, Alliston K.
DeMarco, Grace
Smith, Kelsey
Fort, Theodore
Cousins, Erica
TI The influences of guiding cues on motor skill autonomy in rats
SO LEARNING & BEHAVIOR
LA English
DT Article
DE Autonomy; Expertise; Motor skill; Prompt dependence; Skill learning;
Stimulus control; Rats
ID STIMULUS-CONTROL; REINFORCEMENT CONTINGENCIES; WORKING MEMORY;
EXPERTISE; DISCRIMINATION; BEHAVIOR; AUTISM; DOGS
AB How does the effectiveness of guiding cues influence the development of motor skill autonomy? We utilized two sets of guiding cues (lights vs. reversed-lights conditions) that differed in their effectiveness to control a left-right leverpress sequence in rats. We separately measured the development of stimulus control by panel lights on guiding-cues trials and the development of stimulus control by practice cues on no-cue probe trials within the same sessions. Accuracy in the presence of the guiding cues was acquired faster in the lights condition than in the reversed-lights condition, but subjects in the reversed-lights condition were more able to complete the skill autonomously than those in the lights condition. Throughout acquisition, control by guiding cues and practice cues developed at the same rate in the reversed-lights condition, but control by practice cues (autonomy) developed at a slower rate than did control by guiding cues in the lights condition. At the end of training, subjects that had been exposed to the reversed-lights condition displayed higher levels of autonomy than did those exposed to the lights condition. The less effective guiding cue (reversed-lights) produced greater levels of autonomy than did the more effective cue (lights), even though control by this guiding cue developed more slowly. Thus, guiding your child by the hand too much may reduce his or her ability to complete the task independently. We discuss the similarity to prompt dependence in children with learning disabilities and transfer of stimulus control.
C1 [Reid, Alliston K.; DeMarco, Grace; Smith, Kelsey; Fort, Theodore; Cousins, Erica] Wofford Coll, Dept Psychol, Spartanburg, SC 29303 USA.
RP Reid, AK (reprint author), Wofford Coll, Dept Psychol, 429 N Church St, Spartanburg, SC 29303 USA.
EM reidak@wofford.edu
FU Wofford College
FX We thank the students enrolled in Learning and Adaptive Behavior at
Wofford College for running the subjects in this experiment. We are
grateful to Wofford College for funding this research. We thank Phil
Hineline for bringing the relevance of prompt dependence to our
attention.
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NR 39
TC 1
Z9 1
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1543-4494
EI 1543-4508
J9 LEARN BEHAV
JI Learn Behav.
PD DEC
PY 2013
VL 41
IS 4
BP 455
EP 463
DI 10.3758/s13420-013-0121-y
PG 9
WC Psychology, Biological; Behavioral Sciences; Psychology, Experimental;
Zoology
SC Psychology; Behavioral Sciences; Zoology
GA 268ZA
UT WOS:000328208200012
PM 24043580
ER
PT J
AU Lovci, MT
Ghanem, D
Marr, H
Arnold, J
Gee, S
Parra, M
Liang, TY
Stark, TJ
Gehman, LT
Hoon, S
Massirer, KB
Pratt, GA
Black, DL
Gray, JW
Conboy, JG
Yeo, GW
AF Lovci, Michael T.
Ghanem, Dana
Marr, Henry
Arnold, Justin
Gee, Sherry
Parra, Marilyn
Liang, Tiffany Y.
Stark, Thomas J.
Gehman, Lauren T.
Hoon, Shawn
Massirer, Katlin B.
Pratt, Gabriel A.
Black, Douglas L.
Gray, Joe W.
Conboy, John G.
Yeo, Gene W.
TI Rbfox proteins regulate alternative mRNA splicing through evolutionarily
conserved RNA bridges
SO NATURE STRUCTURAL & MOLECULAR BIOLOGY
LA English
DT Article
ID GENOME-WIDE ANALYSIS; SECONDARY STRUCTURE; SACCHAROMYCES-CEREVISIAE;
EXON INCLUSION; ELEMENTS; CODE; REVEALS; NETWORK; TDP-43; AUTISM
AB Alternative splicing (AS) enables programmed diversity of gene expression across tissues and development. We show here that binding in distal intronic regions (>500 nucleotides (nt) from any exon) by Rbfox splicing factors important in development is extensive and is an active mode of splicing regulation. Similarly to exon-proximal sites, distal sites contain evolutionarily conserved GCATG sequences and are associated with AS activation and repression upon modulation of Rbfox abundance in human and mouse experimental systems. As a proof of principle, we validated the activity of two specific Rbfox enhancers in KIF21A and ENAH distal introns and showed that a conserved long-range RNA-RNA base-pairing interaction (an RNA bridge) is necessary for Rbfox-mediated exon inclusion in the ENAH gene. Thus we demonstrate a previously unknown RNA-mediated mechanism for AS control by distally bound RNA-binding proteins.
C1 [Lovci, Michael T.; Arnold, Justin; Liang, Tiffany Y.; Stark, Thomas J.; Massirer, Katlin B.; Pratt, Gabriel A.; Yeo, Gene W.] Univ Calif San Diego, Dept Cellular & Mol Med, La Jolla, CA 92093 USA.
[Lovci, Michael T.; Arnold, Justin; Liang, Tiffany Y.; Stark, Thomas J.; Massirer, Katlin B.; Pratt, Gabriel A.; Yeo, Gene W.] Univ Calif San Diego, Stem Cell Program, San Diego, CA 92103 USA.
[Lovci, Michael T.; Arnold, Justin; Liang, Tiffany Y.; Stark, Thomas J.; Massirer, Katlin B.; Pratt, Gabriel A.; Yeo, Gene W.] Univ Calif San Diego, Inst Genom Med, La Jolla, CA 92093 USA.
[Ghanem, Dana; Marr, Henry; Gee, Sherry; Parra, Marilyn; Conboy, John G.] Univ Calif Berkeley, Lawrence Berkeley Natl Lab, Life Sci Div, Berkeley, CA 94720 USA.
[Gehman, Lauren T.; Black, Douglas L.] Univ Calif Los Angeles, Dept Microbiol Immunol & Mol Genet, Los Angeles, CA USA.
[Gehman, Lauren T.; Black, Douglas L.] Univ Calif Los Angeles, Howard Hughes Med Inst, Los Angeles, CA 90024 USA.
[Hoon, Shawn; Yeo, Gene W.] Agcy Sci Technol & Res, Inst Biomed Sci, Mol Engn Lab, Singapore, Singapore.
[Hoon, Shawn] Nanyang Technol Univ, Sch Biol Sci, Singapore 639798, Singapore.
[Gray, Joe W.] Oregon Hlth & Sci Univ, Dept Biomed Engn, Portland, OR 97201 USA.
[Yeo, Gene W.] Natl Univ Singapore, Yong Loo Lin Sch Med, Singapore 117595, Singapore.
RP Conboy, JG (reprint author), Univ Calif Berkeley, Lawrence Berkeley Natl Lab, Life Sci Div, Berkeley, CA 94720 USA.
EM jgconboy@lbl.gov; geneyeo@ucsd.edu
RI Lovci, Michael/C-8685-2014
OI Lovci, Michael/0000-0002-0077-7608
FU National Science Foundation; National Institute of Health [U54 HG007005,
R01 HG004659, R01 GM084317, R01 NS075449, HL045182, DK094699, CA112970,
CA126551]; Office of Science, and Office of Biological & Environmental
Research of the US Department of Energy [DE-AC02-05CH1123]; US National
Institutes of Health [RO1 GM49662]; [DK032094]
FX The authors would like to thank A. Pasquinelli, N. Chi, K. Willert and
L. Goldstein and members of the Yeo, Conboy and Goldstein labs for
critical reading of the manuscript. M.T.L. is supported as a National
Science Foundation GK12 Fellow. This work was supported by grants from
the National Institute of Health to G.W.Y. (U54 HG007005, R01 HG004659,
R01 GM084317 and R01 NS075449) and to J.G.C. (HL045182 and DK094699) and
partially supported by grants to J.W.G. (CA112970 and CA126551). J.G.C.
also acknowledges support from DK032094. This work was also supported by
the Director, Office of Science, and Office of Biological &
Environmental Research of the US Department of Energy under Contract No.
DE-AC02-05CH1123. D.L.B. and L.T.G. were supported by US National
Institutes of Health grant RO1 GM49662 to D.L.B. D.L.B. is an
Investigator of the Howard Hughes Medical Institute. M.T.L. and G.W.Y.
are grateful for a gift from P. Yang at Genentech that supported M.T.L.
G.W.Y. is supported as an Alfred P. Sloan Research Fellow.
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NR 59
TC 18
Z9 18
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1545-9993
EI 1545-9985
J9 NAT STRUCT MOL BIOL
JI Nat. Struct. Mol. Biol.
PD DEC
PY 2013
VL 20
IS 12
BP 1434
EP 1442
DI 10.1038/nsmb.2699
PG 9
WC Biochemistry & Molecular Biology; Biophysics; Cell Biology
SC Biochemistry & Molecular Biology; Biophysics; Cell Biology
GA 266FA
UT WOS:000328007600016
PM 24213538
ER
PT J
AU Walker, SC
McGlone, FP
AF Walker, S. C.
McGlone, F. P.
TI The social brain: Neurobiological basis of affiliative behaviours and
psychological well-being
SO NEUROPEPTIDES
LA English
DT Article
DE Affiliation; Social; Touch; Dopamine; Serotonin; Opiates; Oxytocin;
Stress; C-tactile afferents
ID FEMALE PRAIRIE VOLES; NUCLEUS-ACCUMBENS DOPAMINE; PITUITARY-ADRENAL
AXIS; DORSAL RAPHE NUCLEUS; UNMYELINATED TACTILE AFFERENTS;
CORTICOTROPIN-RELEASING-FACTOR; X-ENVIRONMENT INTERACTIONS; OXYTOCIN
RECEPTOR DENSITY; AUTISM SPECTRUM DISORDERS; MEDIAL PREFRONTAL CORTEX
AB The social brain hypothesis proposes that the demands of the social environment provided the evolutionary pressure that led to the expansion of the primate brain. Consistent with this notion, that functioning in the social world is crucial to our survival, while close supportive relationships are known to enhance well-being, a range of social stressors such as abuse, discrimination and dysfunctional relationships can increase the risk of psychiatric disorders. The centrality of the social world to our everyday lives is further exemplified by the fact that abnormality in social behaviour is a salient feature of a range of neurodevelopmental and psychiatric disorders. This paper aims to provide a selective overview of current knowledge of the neurobiological basis of our ability to form and maintain close personal relationships, and of the benefits these relationships confer on our health. Focusing on neurochemical and neuroendocrine interactions within affective and motivational neural circuits, it highlights the specific importance of cutaneous somatosensation in affiliative behaviours and psychological well-being and reviews evidence, in support of the hypothesis, that a class of cutaneous unmyelinated, low threshold mechanosensitive nerves, named c-tactile afferents. have a direct and specific role in processing affiliative tactile stimuli. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Walker, S. C.; McGlone, F. P.] Liverpool John Moores Univ, Sch Nat Sci & Psychol, Liverpool L3 3AF, Merseyside, England.
[McGlone, F. P.] Univ Liverpool, Inst Psychol Hlth & Soc, Liverpool L69 3GL, Merseyside, England.
RP Walker, SC (reprint author), Liverpool John Moores Univ, Sch Nat Sci & Psychol, Rm 309 Tom Reilly Bldg,Byrom St, Liverpool L3 3AF, Merseyside, England.
EM s.c.walker@ljmu.ac.uk
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NR 294
TC 6
Z9 6
PU CHURCHILL LIVINGSTONE
PI EDINBURGH
PA JOURNAL PRODUCTION DEPT, ROBERT STEVENSON HOUSE, 1-3 BAXTERS PLACE,
LEITH WALK, EDINBURGH EH1 3AF, MIDLOTHIAN, SCOTLAND
SN 0143-4179
EI 1532-2785
J9 NEUROPEPTIDES
JI Neuropeptides
PD DEC
PY 2013
VL 47
IS 6
SI SI
BP 379
EP 393
DI 10.1016/j.npep.2013.10.008
PG 15
WC Endocrinology & Metabolism; Neurosciences
SC Endocrinology & Metabolism; Neurosciences & Neurology
GA 268PR
UT WOS:000328183500004
PM 24210942
ER
PT J
AU Shen, SB
Gehlert, DR
Collier, DA
AF Shen, Sanbing
Gehlert, Donald R.
Collier, David A.
TI PACAP and PAC1 receptor in brain development and behavior
SO NEUROPEPTIDES
LA English
DT Article
DE Autism; Brain development; Knockout; PACAP; PAC1; Schizophrenia; Stress;
Transgenic; VIP
ID CYCLASE-ACTIVATING POLYPEPTIDE; VASOACTIVE-INTESTINAL-PEPTIDE;
DEVELOPING CEREBRAL-CORTEX; MICE LACKING PACAP; DIFFERENTIAL
SIGNAL-TRANSDUCTION; INDUCED PHASE-SHIFT; ADENYLATE-CYCLASE; DEFICIENT
MICE; I-RECEPTOR; SPLICE VARIANTS
AB Pituitary adenylate cyclase-activating polypeptide (PACAP) and vasoactive intestinal peptide (VIP) act through three class B G-protein coupled receptors, PAC1, VPAC1 and VPAC2, initiating multiple signaling pathways. In addition to natural peptides ligands, a number of synthetic peptides and a small molecular antagonist have been generated. Genetically modified animals have been produced for the neuropeptides and receptors. Neuroanatomical, electrophysiological, behavioral and pharmacological characterization of the mutants and transgenic mice uncovered diverse roles of PACAP-PAC1-VAPC2 signaling in peripheral tissues and in the central nervous system. Human genetic studies suggest that the PACAP-PAC1-VPAC2 signaling can be associated with psychiatric illness via mechanisms of not only loss-of-function, but also gain-of-function. For example, a duplication of chromosome 7q36.3 (encoding the VPAC2 receptor) was shown to be associated with schizophrenia, and high levels of PACAP-PAC1 signaling are associated with posttraumatic stress disorder. Whereas knockout animals are appropriate to address loss-of-function of human genetics, transgenic mice overexpressing human transgenes in native environment using artificial chromosomes are particularly valuable and essential to address the consequences of gain-of-function. This review focuses on role of PACAP and PAC1 receptor in brain development, behavior of animals and potential implication in human neurodevelopmental disorders. It also encourages keeping an open mind that alterations of VIP/PACAP signaling may associate with psychiatric illness without overt neuroanatomic changes, and that tuning of VIP/PACAP signaling may represent a novel avenue for the treatment of the psychiatric illness. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Shen, Sanbing] Natl Univ Ireland NUI Galway, Regenerat Med Inst, Sch Med, Galway, Ireland.
[Gehlert, Donald R.] Eli Lilly & Co, Lilly Res Labs, Neurosci Discovery Res, Indianapolis, IN 46285 USA.
[Collier, David A.] Lilly UK, Psychiat DHT, Discovery Neurosci Res, Windlesham GU20 6PH, Surrey, England.
RP Shen, SB (reprint author), Natl Univ Ireland NUI Galway, Regenerat Med Inst, Sch Med, Galway, Ireland.
EM sanbing.shen@nuigalway.ie; Gehlert_Donald_R@Lilly.com;
collier_david_andrew@lilly.com
RI Shen, Sanbing/E-3750-2015
FU NUI Galway [RSU002]; Science Foundation Ireland [RSF1135]
FX We thank the NUI Galway (RSU002) and Science Foundation Ireland
(RSF1135) for funding.
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NR 103
TC 6
Z9 6
PU CHURCHILL LIVINGSTONE
PI EDINBURGH
PA JOURNAL PRODUCTION DEPT, ROBERT STEVENSON HOUSE, 1-3 BAXTERS PLACE,
LEITH WALK, EDINBURGH EH1 3AF, MIDLOTHIAN, SCOTLAND
SN 0143-4179
EI 1532-2785
J9 NEUROPEPTIDES
JI Neuropeptides
PD DEC
PY 2013
VL 47
IS 6
SI SI
BP 421
EP 430
DI 10.1016/j.npep.2013.10.005
PG 10
WC Endocrinology & Metabolism; Neurosciences
SC Endocrinology & Metabolism; Neurosciences & Neurology
GA 268PR
UT WOS:000328183500007
PM 24220567
ER
PT J
AU Frith, U
AF Frith, Uta
TI From art to autism
SO PSYCHOLOGIST
LA English
DT Editorial Material
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 DEC
PY 2013
VL 26
IS 12
BP 880
EP 882
PG 3
WC Psychology, Multidisciplinary
SC Psychology
GA 266CW
UT WOS:000328000900023
ER
PT J
AU Khanna, R
Jariwala, K
Bentley, JP
AF Khanna, Rahul
Jariwala, Krutika
Bentley, John P.
TI Psychometric properties of the EuroQol Five Dimensional Questionnaire
(EQ-5D-3L) in caregivers of autistic children
SO QUALITY OF LIFE RESEARCH
LA English
DT Article
DE Autism; Caregivers; EQ-5D-3L; Validity; Reliability
ID QUALITY-OF-LIFE; VALUING HEALTH-STATUS; PARKINSONS-DISEASE; STRAIN
QUESTIONNAIRE; INFORMAL CAREGIVERS; SPECTRUM DISORDERS;
GENERAL-POPULATION; CONSTRUCT-VALIDITY; ALZHEIMERS-DISEASE; PARENTING
STRESS
AB Purpose This study aimed to ascertain the psychometric properties of EuroQol Five Dimensional Questionnaire (EQ-5D-3L) in primary caregivers of children with autism. The convergent validity, discriminant validity, known-groups validity, internal consistency reliability, and floor and ceiling effects of EQ-5D-3L were analyzed.
Methods A cross-sectional design was used for study purposes. Through an online survey, relevant study information was collected from 316 primary caregivers of children with autism. Study participants were from families of children with autism living in the United States who were registered with the Interactive Autism Network. Convergent validity of the EQ-5D-3L was assessed through its correlation with other measures of similar constructs. Discriminant validity was assessed by observing the correlation of EQ-5D-3L domains with theoretically unrelated constructs. Known-groups validity was tested by comparing EQ-5D-3L index and visual analog scale (VAS) scores across levels of autism severity among the care recipients. Internal consistency reliability of EQ-5D-3L was tested. Lastly, floor and ceiling effects of EQ-5D-3L were assessed.
Results More than 60 % of participants reported problems of 'anxiety/depression.' Convergent and discriminant validity of the EQ-5D-3L was good. Significant correlation (convergent validity) was observed among EQ-5D-3L index and VAS and (SF-12v2) physical component summary and mental component summary scores. Caregivers' EQ-5D-3L index and VAS scores varied by levels of autism severity among care recipients, providing evidence of known-groups validity. Reliability assessed through Cronbach's alpha was less than satisfactory; however, corrected item-total correlations were adequate.
Conclusions The EQ-5D-3L is a psychometrically sound tool to elicit health state preferences among caregivers of children with autism.
C1 [Khanna, Rahul; Jariwala, Krutika; Bentley, John P.] Univ Mississippi, Sch Pharm, Dept Pharm Adm, University, MS 38677 USA.
[Khanna, Rahul; Bentley, John P.] Univ Mississippi, Sch Pharm, Pharmaceut Sci Res Inst, University, MS 38677 USA.
RP Khanna, R (reprint author), Univ Mississippi, Sch Pharm, Dept Pharm Adm, Faser Hall Room 236,POB 1848, University, MS 38677 USA.
EM rkhanna@olemiss.edu
FU American Association of Colleges of Pharmacy (AACP), Alexandria, VA
FX This study was financially supported by a New Investigator Award from
the American Association of Colleges of Pharmacy (AACP), Alexandria, VA.
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NR 80
TC 0
Z9 0
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 DEC
PY 2013
VL 22
IS 10
BP 2909
EP 2920
DI 10.1007/s11136-013-0423-8
PG 12
WC Health Care Sciences & Services; Health Policy & Services; Public,
Environmental & Occupational Health
SC Health Care Sciences & Services; Public, Environmental & Occupational
Health
GA 269BM
UT WOS:000328215200028
PM 23615959
ER
PT J
AU Beim, PY
Elashoff, M
Hu-Seliger, TT
AF Beim, Piraye Yurttas
Elashoff, Michael
Hu-Seliger, Tina T.
TI Personalized reproductive medicine on the brink: progress, opportunities
and challenges ahead
SO REPRODUCTIVE BIOMEDICINE ONLINE
LA English
DT Article
DE data analytics; female infertility; genetic biomarkers; whole genome
sequencing; personalized medicine; validation
ID IN-VITRO FERTILIZATION; PREMATURE OVARIAN FAILURE; GENOME-WIDE
ASSOCIATION; DE-NOVO MUTATIONS; FOLLICLE-STIMULATING-HORMONE; AUTISM
SPECTRUM DISORDERS; SINGLE EMBRYO-TRANSFER; EXTERNAL VALIDATION; ONGOING
PREGNANCY; PREDICTION MODEL
AB Significant progress has been made in several fields of medicine towards personalizing treatment recommendations based on individual patient genotype. As the number of clinical and genetic biomarkers available to physicians has increased, predictive models able to integrate the contributions of multiple variables simultaneously have become valuable tools for medical decision making. Leveraging genotype information and multivariate predictive models holds the promise of bringing greater efficiency to, and reducing the costs of, fertility treatments. This work reviews the advances that have been made in genetic biomarker discovery and predictive modelling for fertility treatment outcomes. We also discuss some of the limitations of these studies for translation to clinical diagnostics and the challenges that remain. (C) 2013, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.
C1 [Beim, Piraye Yurttas; Elashoff, Michael; Hu-Seliger, Tina T.] Celmatix Inc, New York, NY 10014 USA.
RP Beim, PY (reprint author), Celmatix Inc, 1 Little West 12th St, New York, NY 10014 USA.
EM p.beim@celmatix.com
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NR 90
TC 2
Z9 2
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1472-6483
EI 1472-6491
J9 REPROD BIOMED ONLINE
JI Reprod. Biomed. Online
PD DEC
PY 2013
VL 27
IS 6
BP 611
EP 623
DI 10.1016/j.rbmo.2013.09.010
PG 13
WC Obstetrics & Gynecology; Reproductive Biology
SC Obstetrics & Gynecology; Reproductive Biology
GA 267EL
UT WOS:000328079400006
PM 24449934
ER
PT J
AU Vintzileos, AM
Ananth, CV
AF Vintzileos, Anthony M.
Ananth, Cande V.
TI Does augmentation or induction of labor with oxytocin increase the risk
for autism?
SO AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
LA English
DT Editorial Material
ID PROSTAGLANDIN E(2) GEL; SPECTRUM DISORDERS; INTRAVAGINAL MISOPROSTOL;
RANDOMIZED-TRIAL; PREPIDIL GEL; E-2 GEL; PREGNANCIES; ESTRADIOL
C1 [Vintzileos, Anthony M.] Winthrop Univ Hosp, Dept Obstet & Gynecol, Mineola, NY 11501 USA.
[Ananth, Cande V.] Columbia Univ, Coll Phys & Surg, Dept Obstet & Gynecol, New York, NY 10027 USA.
[Ananth, Cande V.] Columbia Univ, Joseph L Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY 10027 USA.
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NR 43
TC 7
Z9 7
PU MOSBY-ELSEVIER
PI NEW YORK
PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0002-9378
EI 1097-6868
J9 AM J OBSTET GYNECOL
JI Am. J. Obstet. Gynecol.
PD DEC
PY 2013
VL 209
IS 6
BP 502
EP 504
DI 10.1016/j.ajog.2013.09.003
PG 3
WC Obstetrics & Gynecology
SC Obstetrics & Gynecology
GA 259PN
UT WOS:000327538900003
PM 24071440
ER
PT J
AU Grozeva, D
Kirov, G
Conrad, DF
Barnes, CP
Hurles, M
Owen, MJ
O'Donovan, MC
Craddock, N
AF Grozeva, Detelina
Kirov, George
Conrad, Donald F.
Barnes, Chris P.
Hurles, Matthew
Owen, Michael J.
O'Donovan, Michael C.
Craddock, Nick
TI Reduced burden of very large and rare CNVs in bipolar affective disorder
SO BIPOLAR DISORDERS
LA English
DT Article
DE bipolar disorder; CNV; schizophrenia; WTCCC
ID COPY-NUMBER VARIANTS; CHROMOSOMAL DELETIONS; HIGH-RISK; SCHIZOPHRENIA;
DUPLICATIONS; ASSOCIATION; MICRODELETIONS; GENETICS; AUTISM; ARRAY
AB ObjectivesLarge, rare chromosomal copy number variants (CNVs) have been shown to increase the risk for schizophrenia and other neuropsychiatric disorders including autism, attention-deficit hyperactivity disorder, learning difficulties, and epilepsy. Their role in bipolar disorder (BD) is less clear. There are no reports of an increase in large, rare CNVs in BD in general, but some have reported an increase in early-onset cases. We previously found that the rate of such CNVs in individuals with BD was not increased, even in early-onset cases. Our aim here was to examine the rate of large rare CNVs in BD in comparison with a new large independent reference sample from the same country.
MethodsWe studied the CNVs in a case-control sample consisting of 1,650 BD cases (reported previously) and 10,259 reference individuals without a known psychiatric disorder who took part in the original Wellcome Trust Case Control Consortium (WTCCC) study. The 10,259 reference individuals were affected with six non-psychiatric disorders (coronary artery disease, types 1 and 2 diabetes, hypertension, Crohn's disease, and rheumatoid arthritis). Affymetrix 500K array genotyping data were used to call the CNVs.
ResultsThe rate of CNVs>100kb was not statistically different between cases and controls. The rate of very large (defined as > 1Mb) and rare (< 1%) CNVs was significantly lower in patients with BD compared with the reference group. CNV loci associated with schizophrenia were not enriched in BD and, in fact, cases of BD had the lowest number of such CNVs compared with any of the WTCCC cohorts; this finding held even for the early-onset BD cases.
ConclusionsSchizophrenia and BD differ with respect to CNV burden and association with specific CNVs. Our findings support the hypothesis that BD is etiologically distinct from schizophrenia with respect to large, rare CNVs and the accompanying associated neurodevelopmental abnormalities.
C1 [Grozeva, Detelina; Kirov, George; Owen, Michael J.; O'Donovan, Michael C.; Craddock, Nick] MRC Ctr Neuropsychiat Genet & Genom, Cardiff CF24 4HQ, S Glam, Wales.
[Conrad, Donald F.; Barnes, Chris P.; Hurles, Matthew] Wellcome Trust Sanger Inst, Cambridge, England.
RP Craddock, N (reprint author), MRC Ctr Neuropsychiat Genet & Genom, Hadyn Ellis Bldg,Maindy Rd Cathays, Cardiff CF24 4HQ, S Glam, Wales.
EM craddockn@cardiff.ac.uk
FU Wellcome Trust [076113, 085475]
FX This study made use of data generated by the Wellcome Trust Case-Control
Consortium. The authors are grateful to Professors David Clayton and
Peter Donnelly and all members of WTCCC1, particularly those on the CNV
and management groups. A full list of the investigators who contributed
to the generation of the data is provided at the WTCCC website
(www.wtccc.org.uk). Funding for the project was provided by the Wellcome
Trust under awards 076113 and 085475.
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NR 36
TC 6
Z9 6
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1398-5647
EI 1399-5618
J9 BIPOLAR DISORD
JI Bipolar Disord.
PD DEC
PY 2013
VL 15
IS 8
BP 893
EP 898
DI 10.1111/bdi.12125
PG 6
WC Clinical Neurology; Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 262NL
UT WOS:000327742200009
PM 24127788
ER
PT J
AU Wellman, HM
Peterson, CC
AF Wellman, Henry M.
Peterson, Candida C.
TI Deafness, Thought Bubbles, and Theory-of-Mind Development
SO DEVELOPMENTAL PSYCHOLOGY
LA English
DT Article
DE social cognition; theory of mind; deafness; intervention research;
developmental delays
ID TYPICALLY DEVELOPING-CHILDREN; FALSE-BELIEF; SPECTRUM DISORDERS; AUTISM
SPECTRUM; NORMAL-HEARING; LANGUAGE; SKILLS; COMMUNICATION; ABILITY;
STEPS
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RP Wellman, HM (reprint author), Univ Michigan, Ctr Human Growth & Dev, 300 North Ingalls,10th Floor, Ann Arbor, MI 48109 USA.
EM hmw@umich.edu
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NR 66
TC 8
Z9 8
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 DEC
PY 2013
VL 49
IS 12
BP 2357
EP 2367
DI 10.1037/a0032419
PG 11
WC Psychology, Developmental
SC Psychology
GA 264DM
UT WOS:000327857200013
PM 23544856
ER
PT J
AU Georgsdottir, I
Haraldsson, A
Dagbjartsson, A
AF Georgsdottir, Ingibjorg
Haraldsson, Asgeir
Dagbjartsson, Atli
TI Behavior and well-being of extremely low birth weight teenagers in
Iceland
SO EARLY HUMAN DEVELOPMENT
LA English
DT Article
DE Behavior; Well-being; Bullying; Extremely low birth weight (ELBW);
Adolescents
ID EXTREMELY PRETERM CHILDREN; SCHOOL-AGE OUTCOMES; HEALTH-CARE NEEDS;
FUNCTIONAL LIMITATIONS; SOCIAL COMPETENCES; ADOLESCENTS BORN; YOUNG
ADULTHOOD; WEEKS GESTATION; INFANTS BORN; 1990S
AB Background: Preterm children are at risk for behavioral and emotional problems.
Aims: To evaluate behavior and emotional well-being of extremely low birth weight (ELBW) teenagers born in Iceland in 1991-1995.
Methods: Participants, 30 of 35 ELBW survivors (25 girls, 5 boys, mean age 16.8 years), were interviewed, underwent medical examination and answered the Youth Self-Report for ages 11-18 (YSR) of the Achenbach System of Empirically Based Assessment (ASEBA). The ELBW parents answered the ASEBA Child Behavior Checklist for ages 6-18 and the Autism Spectrum Screening Questionnaire (ASSQ). A comparison group of 30 teenagers (23 girls, 7 boys, mean age 16.5 years) answered the YSR questionnaire and their parents answered the CBCL and ASSQ questionnaires.
Results: ELBW teenagers and parents report more behavior problems than the full term comparison teenagers and parents. They score significantly higher on the YSR and CBCL syndrome scales except for YSR and CBCL rule-breaking behavior and CBCL thought problems. The ELBW teenagers self-report on total competence, activities, social participation and academic performance was not significantly lower than the comparison teenagers. Parents of ELBW teenagers rated total competence, social participation and school performance of their children significantly lower than parents of comparison teenagers. The YSR Positive Qualities Scale was not significantly different between the two teenage groups. Two ELBW teenagers scored above cut-off points on the ASSQ questionnaire and none of the comparison teenagers. Bullying was reported by 20% of ELBW parents compared to none of the comparison group.
Conclusion: ELBW teenagers experience emotional, behavior and social challenges. The teenagers value their positive qualities, activities and academic performance similar to peers. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
C1 [Georgsdottir, Ingibjorg] State Diagnost & Counselling Ctr, IS-200 Kopavogur, Iceland.
[Haraldsson, Asgeir; Dagbjartsson, Atli] Univ Iceland, Fac Med, IS-101 Reykjavik, Iceland.
RP Georgsdottir, I (reprint author), State Diagnost & Counselling Ctr, Digranesvegur 5, IS-200 Kopavogur, Iceland.
EM ingibjorg@greining.is
FU University of Iceland Research Fund; Memorial Fund at the State
Diagnostic and Counselling Centre; University Eimskipafelag Fund
FX The study was supported by a grant from the University of Iceland
Research Fund, a stipend from a Memorial Fund at the State Diagnostic
and Counselling Centre and the University Eimskipafelag Fund. No other
financial support was received.
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NR 47
TC 2
Z9 2
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0378-3782
EI 1872-6232
J9 EARLY HUM DEV
JI Early Hum. Dev.
PD DEC
PY 2013
VL 89
IS 12
BP 999
EP 1003
DI 10.1016/j.earlhumdev.2013.08.018
PG 5
WC Obstetrics & Gynecology; Pediatrics
SC Obstetrics & Gynecology; Pediatrics
GA 262RO
UT WOS:000327755500015
PM 24041813
ER
PT J
AU Eeles, AL
Anderson, PJ
Brown, NC
Lee, KJ
Boyd, RN
Spittle, AJ
Doyle, LW
AF Eeles, Abbey L.
Anderson, Peter J.
Brown, Nisha C.
Lee, Katherine J.
Boyd, Roslyn N.
Spittle, Alicia J.
Doyle, Lex W.
TI Sensory profiles obtained from parental reports correlate with
independent assessments of development in very preterm children at 2
years of age
SO EARLY HUMAN DEVELOPMENT
LA English
DT Article
DE Sensory profiles; Preterm infants; Developmental outcomes; Child
development
ID LOW-BIRTH-WEIGHT; NEURODEVELOPMENTAL OUTCOMES; BEHAVIORAL OUTCOMES;
SPECTRUM DISORDERS; INFANTS; SCORES; BORN; AUTISM; LIFE; TERM
AB Background: Very preterm (VPT) children have different sensory profiles than term-born controls, but how the sensory profiles in VPT children relate to development has not been reported.
Aim: The aim of this study was to examine the relationship between VPT infant sensory profiles and concurrent developmental outcomes at 2 years' corrected age.
Study design: Cohort study.
Subjects: 243 children <30 weeks' gestation.
Outcome measures: Primary caregivers completed the Infant/Toddler Sensory Profile Questionnaire to obtain information on sensory processing at 2 years of age. Independent observers assessed the child's neurodevelopment with either the Mental Developmental Index (MDI) and Psychomotor Developmental Index (PDI) of the Bayley Scales of Infant Development version 2 (Bayley 2) or the Cognition, Language and Motor Composites of the Bayley Scales of Infant and Toddler Development version 3 (Bayley 3).
Results: A stronger Low Registration pattern correlated with lower MDI and PDI scores and a stronger Sensation Avoiding pattern correlated with a lower PDI score. A stronger Low Registration pattern correlated with a lower Language Composite score. More frequent visual and oral sensory processing behaviours were associated with higher performance on the MDI and PDI, with more frequent auditory sensory processing behaviours also associated with higher PDI scores. More frequent auditory, touch and oral sensory processing behaviours were associated with improved outcomes on the Language Composite and more frequent auditory, touch and vestibular processing behaviours correlated with improved outcomes on the Cognition Composite. A secondary analysis using a computed MDI score derived from the Bayley 3 scores did not substantially alter any conclusions.
Conclusion(s): Different sensory profile patterns obtained from parental reports of VPT children are associated with various aspects of neurodevelopment at 2 years of age, obtained from independent assessment. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
C1 [Eeles, Abbey L.; Anderson, Peter J.; Brown, Nisha C.; Lee, Katherine J.; Spittle, Alicia J.; Doyle, Lex W.] Murdoch Childrens Res Inst, Victorian Infant Brain Study, Melbourne, Vic, Australia.
[Eeles, Abbey L.; Anderson, Peter J.; Lee, Katherine J.; Spittle, Alicia J.; Doyle, Lex W.] Univ Melbourne, Melbourne, Vic, Australia.
[Eeles, Abbey L.; Brown, Nisha C.; Spittle, Alicia J.; Doyle, Lex W.] Royal Womens Hosp, Melbourne, Vic, Australia.
[Boyd, Roslyn N.] Univ Queensland, Sch Med, Queensland Cerebral Palsy & Rehabil Res Ctr, Brisbane, Qld, Australia.
RP Eeles, AL (reprint author), Royal Womens Hosp, Level 7,Locked Bag 300, Parkville, Vic 3052, Australia.
EM abbey.eeles@thewomens.org.au
RI Boyd, Roslyn/A-4498-2011; Anderson, Peter/B-6839-2015
OI Boyd, Roslyn/0000-0002-4919-5975; Anderson, Peter/0000-0001-7430-868X
FU National Health and Medical Research Council [284512, 628371, 1037220];
National Health and Medical Research Council, Centre of Clinical
Research Excellence in Newborn Medicine [546519]; Cerebral Palsy
Alliance; Cerebral Palsy Alliance/NHMRC; Daniel Family Scholarship;
Thyne Reid Foundation; Myer Foundation; Victorian Government;
[ALE-491309]
FX The authors of this study have no conflicts of interest to disclose. The
current study received funding from the National Health and Medical
Research Council (Project Grant-284512, Senior Research Fellowship
[PJA]-628371, Career Development Fellowship [RNB]-1037220, Centre of
Clinical Research Excellence in Newborn Medicine-546519), Cerebral Palsy
Alliance (AJS), Cerebral Palsy Alliance/NHMRC co-funded PhD Scholarship
(ALE-491309), Daniel Family Scholarship (ALE), Thyne Reid Foundation,
Myer Foundation and Victorian Government's Operational Infrastructure
Support Program.
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NR 28
TC 2
Z9 2
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0378-3782
EI 1872-6232
J9 EARLY HUM DEV
JI Early Hum. Dev.
PD DEC
PY 2013
VL 89
IS 12
BP 1075
EP 1080
DI 10.1016/j.earlhumdev.2013.07.027
PG 6
WC Obstetrics & Gynecology; Pediatrics
SC Obstetrics & Gynecology; Pediatrics
GA 262RO
UT WOS:000327755500027
PM 23978398
ER
PT J
AU Weisman, O
Zagoory-Sharon, O
Feldman, R
AF Weisman, Omri
Zagoory-Sharon, Orna
Feldman, Ruth
TI Oxytocin administration alters HPA reactivity in the context of
parent-infant interaction
SO EUROPEAN NEUROPSYCHOPHARMACOLOGY
LA English
DT Article
DE Oxytocin; Cortisol; Stress; Parent-infant synchrony; Gaze; Still-face
ID AUTISM SPECTRUM DISORDERS; INTRANASAL OXYTOCIN; SOCIAL-BEHAVIOR;
STILL-FACE; STRESS REACTIVITY; EMOTION REGULATION; HUMANS; CORTISOL;
SYNCHRONY; MOTHER
AB The neuropeptide oxytocin (OT) and the steroid cortisol (CT) have each been implicated in complex social behavior, including parenting, and one mechanism by which OT is thought to exert its pro-social effects is by attenuating hypothalamic-pituitary-adrenal (HPA) response to stress. Yet, no study to date has tested whether OT functions to reduce CT production in the context of the parent-infant attachment. In the current study, we examined the effects of intranasal OT administered to the parent on parent's and infant's CT levels following parent-child interaction that included a social stressor. Utilizing a double-blind, placebo-controlled, within-subject design, 35 fathers and their 5-month-old infants were observed in a face-to-face-still-face paradigm twice, one week apart. Interactions were micro-coded for social synchrony, and salivary CT were repeatedly assessed from parent and child. Results showed that OT increased fathers' overall CT response to the stress paradigm. Furthermore, OT altered infants' physiological and behavioral response as a function of parent-infant synchrony. Among infants experiencing high parent-infant synchrony, OT elevated infant HPA reactivity and increased infant social gaze to the father while father maintained a still-face. On the other hand, among infants experiencing low social synchrony, parental OT reduced the infant's stress response and diminished social gaze toward the unavailable father. Results are consistent with the "social salience" hypothesis and highlight that OT effects on human social functioning are not uniform and depend on the individual's attachment history and social skills. Our findings call to further investigate the effects of OT administration within developmental contexts, particularly the parent-infant relationship. (C) 2013 Elsevier B.V. and ECNP. All rights reserved.
C1 [Feldman, Ruth] Bar Ilan Univ, Dept Psychol, IL-52900 Ramat Gan, Israel.
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
FX The study was supported by the German-Israeli Science Foundation.
Sponsors had no involvement in study design; in the collection, analysis
and interpretation of data; in the writing of the report; and in the
decision to submit the paper for publication.
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Weisman O., BIOL PSYCHI IN PRESS
Weisman O., HORM BEHAV IN PRESS
NR 58
TC 7
Z9 7
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0924-977X
EI 1873-7862
J9 EUR NEUROPSYCHOPHARM
JI Eur. Neuropsychopharmacol.
PD DEC
PY 2013
VL 23
IS 12
BP 1724
EP 1731
DI 10.1016/j.euroneuro.2013.06.006
PG 8
WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA 265AK
UT WOS:000327921900007
PM 23906646
ER
PT J
AU Conti, E
Mazzotti, S
Calderoni, S
Saviozzi, I
Guzzetta, A
AF Conti, E.
Mazzotti, S.
Calderoni, S.
Saviozzi, I.
Guzzetta, A.
TI Are children born after assisted reproductive technology at increased
risk of autism spectrum disorders? A systematic review
SO HUMAN REPRODUCTION
LA English
DT Review
DE autism spectrum disorder; ART; assisted conception; IVF; ICSI
ID INTRACYTOPLASMIC SPERM INJECTION; DIAGNOSTIC OBSERVATION SCHEDULE;
ADVANCED PATERNAL AGE; PARENTAL AGE; CONCEPTION; HEALTH; COHORT; BIRTH;
IVF; INDIVIDUALS
AB Are children born after assisted reproductive technology (ART) at increased risk of autism spectrum disorders (ASD)?
There is no evidence that ART significantly increases the risk of ASD in the offspring.
A few systematic reviews have explored the correlation between assisted conception and ASD with inconclusive results, partly due to the heterogeneity of diagnostic criteria and methodology in the different studies.
Systematic review of 7 observational studies (2 cohort and 5 casecontrol) encompassing 9216 subjects diagnosed with ASD published since 2000.
Literature searches were conducted to retrieve observational studies on the risk of ASD in ART population. Databases searched included PubMed, EMBASE and PsycINFO. In order to obtain more consistent results, we only included the studies in which (i) subjects with either infantile autism or ASD could be identified according to international classification systems and (ii) the diagnosis was obtained from hospital records. Seven studies matched the inclusion criteria.
Four out of seven studies, including the two with the best quality scores, did not show an association between ART and ASD. The two papers supporting an increased risk of autism following ART had the lowest quality scores, due to major methodological limitations. Only one paper showed a protective role of ART.
In spite of the strict inclusion criteria applied as to the diagnosis of ASD, the papers selected are heterogeneous in many aspects including study design, definitions of ART, data source and analysed confounders.
At present, there is no evidence that ART is significantly associated with ASD and hence that current health policies should be modified. The divergent results of some of the studies suggest that further prospective, large and high-quality studies are still needed.
C1 [Conti, E.; Mazzotti, S.; Calderoni, S.; Guzzetta, A.] IRCCS Stella Maris, Dept Dev Neurosci, I-56128 Pisa, Italy.
[Conti, E.; Saviozzi, I.] Univ Pisa, I-56126 Pisa, Italy.
RP Guzzetta, A (reprint author), IRCCS Stella Maris, Dept Dev Neurosci, Via Giacinti 2, I-56128 Pisa, Italy.
EM aguzzetta@inpe.unipi.it
FU Italian Ministry of Health; Tuscany Region [GR-2010-2317873]; Italian
Ministry of Health [GR-2008-1143201]
FX S.C. was partially supported by the Italian Ministry of Health and by
Tuscany Region with the grant 'GR-2010-2317873'. S.M. was partially
supported by the Italian Ministry of Health with the grant
'GR-2008-1143201'.
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NR 58
TC 3
Z9 3
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0268-1161
EI 1460-2350
J9 HUM REPROD
JI Hum. Reprod.
PD DEC
PY 2013
VL 28
IS 12
BP 3316
EP 3327
DI 10.1093/humrep/det380
PG 12
WC Obstetrics & Gynecology; Reproductive Biology
SC Obstetrics & Gynecology; Reproductive Biology
GA 258JO
UT WOS:000327455700018
PM 24129612
ER
PT J
AU Gong, LJ
Yang, RG
Yan, Q
Sun, X
AF Gong, Lejun
Yang, Ronggen
Yan, Qin
Sun, Xiao
TI Prioritization of Disease Susceptibility Genes Using LSM/SVD
SO IEEE TRANSACTIONS ON BIOMEDICAL ENGINEERING
LA English
DT Article
DE Disease susceptibility gene; gene prioritization; latent semantic
mapping (LSM)/singular value decomposition (SVD); vector space model
ID LATENT SEMANTIC ANALYSIS; AUTISM; SIMILARITY; GENOME; ASSOCIATION;
INFORMATION; DISORDERS; DATABASE; IDENTIFICATION; SCHIZOPHRENIA
AB Understanding the role of genetics in diseases is one of the most important tasks in the postgenome era. It is generally too expensive and time consuming to perform experimental validation for all candidate genes related to disease. Computational methods play important roles for prioritizing these candidates. Herein, we propose an approach to prioritize disease genes using latent semantic mapping based on singular value decomposition. Our hypothesis is that similar functional genes are likely to cause similar diseases. Measuring the functional similarity between known disease susceptibility genes and unknown genes is to predict new disease susceptibility genes. Taking autism as an instance, the analysis results of the top ten genes prioritized demonstrate they might be autism susceptibility genes, which also indicates our approach could discover new disease susceptibility genes. The novel approach of disease gene prioritization could discover new disease susceptibility genes, and latent disease-gene relations. The prioritized results could also support the interpretive diversity and experimental views as computational evidence for disease researchers.
C1 [Gong, Lejun; Yan, Qin; Sun, Xiao] Southeast Univ, State Key Lab Bioelect, Nanjing 210096, Jiangsu, Peoples R China.
[Gong, Lejun; Yang, Ronggen] Huaiyin Inst Technol, Fac Comp Engn, Huaian 223003, Peoples R China.
RP Gong, LJ (reprint author), Southeast Univ, State Key Lab Bioelect, Nanjing 210096, Jiangsu, Peoples R China.
EM glj98226@163.com; yonng2002@hotmail.com; sonofseu@163.com;
xsun@seu.edu.cn
FU National Natural Science Foundation of China [61073141, 60971099];
Natural Science Foundation of the Jiangsu Provice in China [BK20130417];
Natural Science Foundation of the Higher Education Institutions of
Jiangsu Province in China [12KJB520002]
FX This work was supported in part by the National Natural Science
Foundation of China under Projects 61073141 and 60971099, in part by the
Natural Science Foundation of the Jiangsu Provice in China under Project
BK20130417, and in part by the Natural Science Foundation of the Higher
Education Institutions of Jiangsu Province in China under Project
12KJB520002. Asterisks indicate corresponding authors.
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NR 47
TC 0
Z9 0
PU IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC
PI PISCATAWAY
PA 445 HOES LANE, PISCATAWAY, NJ 08855-4141 USA
SN 0018-9294
EI 1558-2531
J9 IEEE T BIO-MED ENG
JI IEEE Trans. Biomed. Eng.
PD DEC
PY 2013
VL 60
IS 12
BP 3410
EP 3417
DI 10.1109/TBME.2013.2257767
PG 8
WC Engineering, Biomedical
SC Engineering
GA 259VI
UT WOS:000327554000020
ER
PT J
AU Pochon, R
Declercq, C
AF Pochon, Regis
Declercq, Christelle
TI Emotion recognition by children with Down syndrome: A longitudinal study
SO JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY
LA English
DT Article
DE Down syndrome; intellectual disability; emotion recognition; emotional
development; emotion regulation
ID FACIAL EXPRESSIONS; SOCIAL COGNITION; YOUNG-CHILDREN; AUTISM;
PERCEPTION; KNOWLEDGE; FACES; COMPETENCE; ATTENTION; LANGUAGE
AB Background According to the literature, children with Down syndrome (DS) have difficulties recognising facial expressions. Yet abilities to recognise emotional expressions are often assessed in tasks that imply comprehension of words for emotions. We investigated the development of these abilities in children with DS in a longitudinal study that did not involve lexical knowledge of emotions.
Method Children with DS and nonspecific intellectual disability and typically developing children matched for developmental age (DA) were assessed once a year over 3 years. They were asked to recognise the facial expression of an emotion after hearing a vocalisation.
Results In each annual session, children with DS were not significantly different from others at recognising emotions. Their abilities to discriminate basic emotions improved significantly and to a similar extent to those of other children.
Conclusion The findings indicate that children with DS develop emotion recognition abilities similarly to other children of the same DA.
C1 [Pochon, Regis; Declercq, Christelle] Univ Reims, Cognit Hlth & Socialisat Lab, F-51096 Reims, France.
RP Pochon, R (reprint author), Univ Reims, Lab C2S Cognit Sante Socialisat, EA 6291, 57 Rue Pierre Taittinger, F-51096 Reims, France.
EM regis.pochon@univ-reims.fr
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NR 45
TC 2
Z9 2
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1366-8250
EI 1469-9532
J9 J INTELLECT DEV DIS
JI J. Intellect. Dev. Dis.
PD DEC
PY 2013
VL 38
IS 4
BP 332
EP 343
DI 10.3109/13668250.2013.826346
PG 12
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 260NZ
UT WOS:000327602900007
PM 24279786
ER
PT J
AU Gavidia-Payne, S
AF Gavidia-Payne, Susana
TI Working With Parents of a Newly Diagnosed Child With an Autism Spectrum
Disorder: A Guide for Professionals
SO JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY
LA English
DT Book Review
C1 [Gavidia-Payne, Susana] RMIT Univ, Melbourne, Vic, Australia.
RP Gavidia-Payne, S (reprint author), RMIT Univ, Melbourne, Vic, Australia.
EM susana.gavidia-payne@rmit.edu.au
CR HAMILTON D, 2012, WORKING PARENTS NEWL
NR 1
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1366-8250
EI 1469-9532
J9 J INTELLECT DEV DIS
JI J. Intellect. Dev. Dis.
PD DEC
PY 2013
VL 38
IS 4
BP 365
EP 366
PG 2
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 260NZ
UT WOS:000327602900010
ER
PT J
AU Lv, JW
Cheng, TL
Qiu, ZL
Zhou, WH
AF Lv, Jing-Wen
Cheng, Tian-Lin
Qiu, Zi-Long
Zhou, Wen-Hao
TI Role of the PTEN signaling pathway in autism spectrum disorder
SO NEUROSCIENCE BULLETIN
LA English
DT Review
DE PTEN; TSC 1/2; autism; synapse; neural stem cells
ID TUBEROUS SCLEROSIS COMPLEX; LHERMITTE-DUCLOS-DISEASE; IN-VIVO; MOUSE
MODEL; SOMA SIZE; CELLS; TSC1; GENE; PREVALENCE; DELETION
AB Autism is an etiologically heterogeneous group of neurodevelopmental disorders, diagnosed mostly by the clinical behavioral phenotypes. The concept that the tumor-related gene PTEN plays a critical role in autism spectrum disorder has emerged over the last decade. In this review, we focus on the essential role of the PTEN signaling pathway in neuronal differentiation and the formation of neural circuitry, as well as genetic mouse models with Pten manipulations. Particularly, accumulated data suggest that the effect of PTEN on neural stem-cell development contributes significantly to the pathophysiology of autism spectrum disorders.
C1 [Lv, Jing-Wen; Zhou, Wen-Hao] Fudan Univ, Childrens Hosp, Dept Neonatol, Shanghai 201102, Peoples R China.
[Cheng, Tian-Lin; Qiu, Zi-Long] Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China.
RP Zhou, WH (reprint author), Fudan Univ, Childrens Hosp, Dept Neonatol, Shanghai 201102, Peoples R China.
EM zwhchfu@126.com
FU National Natural Science Foundation of China (Fostering Project for
Major Research) [91232712]
FX This review was supported by a grant from the National Natural Science
Foundation of China (Fostering Project for Major Research) (91232712).
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NR 54
TC 3
Z9 3
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1673-7067
EI 1995-8218
J9 NEUROSCI BULL
JI Neurosci. Bull.
PD DEC
PY 2013
VL 29
IS 6
BP 773
EP 778
DI 10.1007/s12264-013-1382-3
PG 6
WC Neurosciences
SC Neurosciences & Neurology
GA 265KX
UT WOS:000327951600013
PM 24136242
ER
PT J
AU Pringsheim, T
Hammer, T
AF Pringsheim, Tamara
Hammer, Tracy
TI Social Behavior and Comorbidity in Children With Tics
SO PEDIATRIC NEUROLOGY
LA English
DT Article
DE autism spectrum disorder; tic disorders; comorbidity; attention deficit
hyperactivity disorder
ID AUTISM SPECTRUM DISORDER; TOURETTE-SYNDROME; BASAL GANGLIA; PREVALENCE;
TRAITS; SAMPLE; SCALE
AB OBJECTIVES: To examine the characteristics of children with coexisting tics and autism spectrum disorder and determine if children with tics have deficits in social behavior. METHODS: Descriptive study of children referred for tics over 18 months. Parents completed the Social Responsiveness Scale and the Social Communications Questionnaire; children screening positive on these measures were evaluated for autism spectrum disorder. Characteristics of children who were diagnosed with both disorders are described. Subscales scores on the Social Responsiveness Scale for children with tics without a comorbid autism spectrum disorder were compared. The relationship between a comorbid diagnosis of attention deficit hyperactivity disorder and autism spectrum disorder symptoms was explored using logistic and linear regression. RESULTS: One hundred and fourteen children were evaluated. Children with a tic disorder and autism spectrum disorder had significantly higher rates of comorbid attention deficit hyperactivity disorder (P = 0.005), rage attacks (P = 0.006), and oppositional defiant disorder (P = 0.007) than children without autism spectrum disorder. Mean tic severity and treatment rates did not differ between groups. Mean subscale scores on the Social Responsiveness Scale for children without autism spectrum disorders fell into the clinically significant range for autistic mannerisms only. All Social Responsiveness Scale scores were significantly increased by an attention deficit hyperactivity disorder diagnosis (P < 0.0001). CONCLUSION: Children referred for assessment of tics should be screened for autism spectrum disorders. There is a subgroup of children with multiple neuropsychiatric comorbidities who suffer from social dysfunction and autistic mannerisms outside of an autism spectrum disorder diagnosis.
C1 [Pringsheim, Tamara; Hammer, Tracy] Univ Calgary, Dept Clin Neurosci, Calgary, AB, Canada.
RP Pringsheim, T (reprint author), Alberta Childrens Prov Gen Hosp, C4-431,2888 Shaganappi Trail NW, Calgary, AB T3B 6A8, Canada.
EM tmprings@ucalgary.ca
CR Amaral DG, 2008, TRENDS NEUROSCI, V31, P137, DOI 10.1016/j.tins.2007.12.005
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 20
TC 1
Z9 1
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0887-8994
EI 1873-5150
J9 PEDIATR NEUROL
JI Pediatr. Neurol.
PD DEC
PY 2013
VL 49
IS 6
BP 406
EP 410
DI 10.1016/j.pediatrneurol.2013.08.005
PG 5
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 263RW
UT WOS:000327826700005
PM 24095577
ER
PT J
AU DeVries, SP
Patel, AD
AF DeVries, Seth P.
Patel, Anup D.
TI Two Patients With a GRIN2A Mutation and Childhood-onset Epilepsy
SO PEDIATRIC NEUROLOGY
LA English
DT Article
DE GRIN2A; epilepsy; NMDA; receptors
ID CANDIDATE GENES; RECEPTOR; 16P13; DISORDERS; SUBUNITS; AUTISM; REGION
AB BACKGROUND: N-methyl-D-aspartate is a key neurotransmitter within the central nervous system and its dysfunction can play an important role in epilepsy. Mutations of genes involving the N-methyl-D-aspartate receptor have been implicated in a wide variety of neuropsychiatric disorders including epilepsy, specifically, within the glutamate receptor ionotropic N-methyl-D-aspartate 2A (GRIN2A). PATIENTS: We report two patients with a glutamate receptor ionotropic N-methyl-D-aspartate 2A mutation who presented with epilepsy. CONCLUSIONS: Individuals with a glutamate receptor ionotropic N-methyl-D-aspartate 2A mutation exhibit a broad clinical spectrum.
C1 Nationwide Childrens Hosp, Div Pediat Neurol, Columbus, OH USA.
Ohio State Univ, Coll Med, Columbus, OH 43210 USA.
RP Patel, AD (reprint author), Div Child Neurol E533, 700 Childrens Dr, Columbus, OH 43205 USA.
EM anup.patel@nationwidechildrens.org
FU UCB Pharma; Eisai; Cyberonics
FX A.D.P. received research grants from UCB Pharma and Eisai and an
educational grant and consulting from Cyberonics.
CR Adams J, 2004, MOL PSYCHIATR, V9, P494, DOI 10.1038/sj.mp.4001455
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NR 12
TC 3
Z9 3
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0887-8994
EI 1873-5150
J9 PEDIATR NEUROL
JI Pediatr. Neurol.
PD DEC
PY 2013
VL 49
IS 6
BP 482
EP 485
DI 10.1016/j.pediatrneurol.2013.08.023
PG 4
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 263RW
UT WOS:000327826700019
PM 24125812
ER
PT J
AU Ward, F
Tharian, P
Roy, M
Deb, S
Unwin, GL
AF Ward, Frances
Tharian, Priyanka
Roy, Meera
Deb, Shoumitro
Unwin, Gemma L.
TI Efficacy of beta blockers in the management of problem behaviours in
people with intellectual disabilities: A systematic review
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Review
DE Propanolol; Beta adrenergic blockers; Intellectual disability; Autism
spectrum conditions; Self-injurious behaviour; Problem behaviours
ID PERVASIVE DEVELOPMENTAL DISORDER; SELF-INJURIOUS-BEHAVIOR; DOUBLE-BLIND;
MENTAL-RETARDATION; ABERRANT BEHAVIOR; PROPRANOLOL; ADULTS; AGGRESSION;
MEDICATION; NADOLOL
AB Both medication and non-medication based strategies are used in the management of problem behaviours in individuals with intellectual disabilities. Beta-adrenoceptor blocking medications are one group of drugs used for this purpose. However, despite its regular use, the evidence for the efficacy of these drugs for in this context is lacking. A systematic review was conducted to establish the research evidence for the efficacy of beta blockers in problem behaviours in adults and children with intellectual disabilities. Although the research identified supported the efficacy of beta blockers for this indication the overall quality of studies identified was poor and no randomised controlled trials were identified. There is a need for more robust research into the use of beta blockers for people with intellectual disabilities who show problem behaviours. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Ward, Frances] Southern Hlth NHS Fdn Trust, London, England.
[Tharian, Priyanka] MBChB Univ Birmingham, Birmingham, W Midlands, England.
[Roy, Meera] Birmingham Community Healthcare NHS Trust, Birmingham, W Midlands, England.
[Deb, Shoumitro] Univ London Imperial Coll Sci Technol & Med, Hammersmith Hosp, London SW7 2AZ, England.
[Unwin, Gemma L.] Univ Birmingham, Sch Psychol, Birmingham B15 2TT, W Midlands, England.
RP Ward, F (reprint author), Southern Hlth NHS Fdn Trust, London, England.
EM fran.ward@ridgeway.nhs.uk
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NR 46
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 DEC
PY 2013
VL 34
IS 12
BP 4293
EP 4303
DI 10.1016/j.ridd.2013.08.015
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 263IZ
UT WOS:000327803600001
PM 24171827
ER
PT J
AU Jutley-Neilson, J
Harris, G
Kirk, J
AF Jutley-Neilson, Jagjeet
Harris, Gillian
Kirk, Jeremy
TI The identification and measurement of autistic features in children with
septo-optic dysplasia, optic nerve hypoplasia and isolated
hypopituitarism
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Septo-optic dysplasia; Optic nerve hypoplasia; Hypopituitarism; Autism;
Autistic spectrum disorders; Blindness; Visual impairment
ID LEBERS CONGENITAL AMAUROSIS; SPECTRUM DISORDER; INFANTILE-AUTISM;
BLIND-CHILDREN; HESX1; ABNORMALITIES; EPIDEMIOLOGY; TWIN
AB This study aimed to highlight the occurrence of autism spectrum disorders (ASDs) in children with septo-optic dysplasia (SOD) and optic nerve hypoplasia (ONH). A cross-sectional study was designed, including 28 children with SOD and 14 children with ONH. Clinician diagnosis of ASD was reported in 14 children. The Social Communication Questionnaire (SCQ) reported that 23 children met the cut-off point for ASD, and 9 children met the cut-off point for autism. Greater levels of intellectual disability and visual loss were reported in children with ASD in comparison to those without ASD, but, of the two, intellectual disability was a better predictor for ASD. The SCQ lost its sensitivity and specificity in children who had greater visual loss which highlights a requirement for a measure that is sensitive to visual loss. It is also recommended that children with SOD/ONH would benefit from routine screening for ASDs. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Jutley-Neilson, Jagjeet] Birmingham City Univ, Div Psychol, Birmingham, W Midlands, England.
[Harris, Gillian] Univ Birmingham, Sch Psychol, Birmingham B15 2TT, W Midlands, England.
[Kirk, Jeremy] Birmingham Childrens Hosp, Dept Endocrinol, Birmingham, W Midlands, England.
RP Jutley-Neilson, J (reprint author), Birmingham City Univ, Div Psychol, Birmingham, W Midlands, England.
EM jagjeet.jutley-neilson@bcu.ac.uk
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NR 51
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 DEC
PY 2013
VL 34
IS 12
BP 4310
EP 4318
DI 10.1016/j.ridd.2013.09.004
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 263IZ
UT WOS:000327803600003
PM 24210356
ER
PT J
AU Wilde, L
Silva, D
Oliver, C
AF Wilde, Lucy
Silva, Daniel
Oliver, Chris
TI The nature of social preference and interactions in Smith-Magenis
syndrome
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Smith-Magenis syndrome; Social behaviour; Attention-seeking; Down
syndrome; Natural observation
ID ANGELMAN-SYNDROME; BEHAVIORAL-PHENOTYPE; WILLIAMS-SYNDROME;
BETA(1)-ADRENERGIC ANTAGONISTS; MALADAPTIVE BEHAVIOR; CIRCADIAN
DISORDER; CHILDREN; AUTISM; INDIVIDUALS; ADOLESCENTS
AB This natural observation study was designed to evaluate hypothesized elevated 'attention-seeking' and preference for adult attention in Smith-Magenis syndrome. Ten children with Smith-Magenis syndrome were observed across one school day, together with an age matched sample of 10 children with Down syndrome. Levels of attention given to, and vigilance for, adults and peers were recorded and compared. Sequences of behaviour were analyzed to evaluate the temporal relationships between giving and receiving attention during adult-child interactions. Compared to children with Down syndrome, children with Smith-Magenis syndrome gave preferential attention to adults and looked towards adults significantly more than they looked towards peers. Sequential analyses revealed that while children with Smith-Magenis syndrome did not initiate interactions with adults more than children with Down syndrome did, reciprocity between child and adult social behaviours in Smith-Magenis syndrome within interactions was compromised. This less synchronous sequence of child and adult interactions in Smith-Magenis syndrome may be the result of children with Smith-Magenis syndrome attempting to initiate interaction at times when it is unavailable. The marked preference for interacting with adults over peers in Smith-Magenis syndrome indicates atypicality of social interaction in this syndrome. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Wilde, Lucy; Silva, Daniel; Oliver, Chris] Univ Birmingham, Sch Psychol, Cerebra Ctr Neurodev Disorders, Birmingham B15 2TT, W Midlands, England.
RP Wilde, L (reprint author), Univ Birmingham, Sch Psychol, Cerebra Ctr Neurodev Disorders, Birmingham B15 2TT, W Midlands, England.
EM l.v.wilde@bham.ac.uk
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NR 49
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 DEC
PY 2013
VL 34
IS 12
BP 4355
EP 4365
DI 10.1016/j.ridd.2013.09.014
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 263IZ
UT WOS:000327803600008
PM 24120292
ER
PT J
AU Goharpey, N
Crewther, DP
Crewther, SG
AF Goharpey, Nahal
Crewther, David P.
Crewther, Sheila G.
TI Problem solving ability in children with intellectual disability as
measured by the Raven's Colored Progressive Matrices
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Raven's Colored Progressive Matrices; Non-verbal mental age;
Intellectual disability; Autism; Down Syndrome; Receptive language;
Error analyses
ID PERFORMANCE; INTELLIGENCE; RIGIDITY; FLUID; TASK
AB This study investigated the developmental trajectory of problem solving ability in children with intellectual disability (ID) of different etiologies (Down Syndrome, Idiopathic ID or low functioning Autism) as measured on the Raven's Colored Progressive Matrices test (RCPM). Children with typical development (TD) and children with ID were matched on total correct performance (i.e., non-verbal mental age) on the RCPM. RCPM total correct performance and the sophistication of error types were found to be associated with receptive vocabulary in all participants, suggesting that verbal ability plays a role in more sophisticated problem solving tasks. Children with ID made similar errors on the RCPM as younger children with TD as well as more positional error types. This result suggests that children with ID who are deficient in their cognitive processing resort to developmentally immature problem solving strategies when unable to determine the correct answer. Overall, the findings support the use of RCPM as a valid means of matching intellectual capacity of children with TD and ID. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Goharpey, Nahal; Crewther, Sheila G.] La Trobe Univ, Fac Sci Technol & Engn, Sch Psychol Sci, Melbourne, Vic 3086, Australia.
[Crewther, David P.] Swinburne Univ Technol, Fac Life & Social Sci, Hawthorn, Vic 3122, Australia.
RP Crewther, SG (reprint author), La Trobe Univ, Fac Sci Technol & Engn, Sch Psychol Sci, Melbourne, Vic 3086, Australia.
EM n.goharpey@latrobe.edu.au; dcrewther@swin.edu.au;
s.crewther@latrobe.edu.au
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NR 23
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 DEC
PY 2013
VL 34
IS 12
BP 4366
EP 4374
DI 10.1016/j.ridd.2013.09.013
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 263IZ
UT WOS:000327803600009
PM 24139715
ER
PT J
AU Gevarter, C
O'Reilly, MF
Rojeski, L
Sammarco, N
Lang, R
Lancioni, GE
Sigafoos, J
AF Gevarter, Cindy
O'Reilly, Mark F.
Rojeski, Laura
Sammarco, Nicolette
Lang, Russell
Lancioni, Giulio E.
Sigafoos, Jeff
TI Comparisons of intervention components within augmentative and
alternative communication systems for individuals with developmental
disabilities: A review of the literature
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Review
DE Augmentative and alternative communication; Developmental disabilities;
Autism spectrum disorder; Comparisons; Review; Single subject designs;
Group experimental intervention; Intervention
ID SYNTHETIC SPEECH OUTPUT; DISPLAY AAC TECHNOLOGIES; GRAPHIC SYMBOLS;
SINGLE-SUBJECT; CHILDREN; AUTISM; STUDENTS; ACQUISITION; PERFORMANCE;
BLISSYMBOL
AB Decisions regarding augmentative and alternative communication (AAC) for individuals with developmental disabilities (e.g. what AAC to use and how to teach a person to use a specific Apt modality) should involve consideration of different intervention component options. In an effort to elucidate such decisions and options, this review synthesized 14 studies, published between 2004 and 2012, comparing different AAC intervention components including different symbol sets, instructional strategies, or speech output within aided MC systems, and different verbal operants within unaided MC. Evidence supported the following: (a) different instructional strategies such as building motivation, using errorless learning, or adding video models to picture exchange interventions may improve the acquisition or rate of acquisition of picture exchange mands, (b) limited data supports training mimetic (imitated) or mand signs over tacts and (c) differences in symbol sets and speech output levels appeared to have little effect on AAC-based mand acquisition, but listener-based differences should be considered. These findings have implications for future research and clinical practice. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Gevarter, Cindy; O'Reilly, Mark F.; Rojeski, Laura; Sammarco, Nicolette] Univ Texas Austin, Austin, TX 78712 USA.
[Lang, Russell] Texas State Univ, San Marcos, DC USA.
[Lancioni, Giulio E.] Univ Bari, I-70121 Bari, Italy.
[Sigafoos, Jeff] Victoria Univ Wellington, Wellington, New Zealand.
RP Gevarter, C (reprint author), Univ Texas Austin, Dept Special Educ, 1912 Speedway,D5300, Austin, TX 78712 USA.
EM cindygev@gmail.com
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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 DEC
PY 2013
VL 34
IS 12
BP 4404
EP 4414
DI 10.1016/j.ridd.2013.09.018
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 263IZ
UT WOS:000327803600013
PM 24139716
ER
PT J
AU Gevarter, C
O'Reilly, MF
Rojeski, L
Sammarco, N
Lang, R
Lancioni, GE
Sigafoos, J
AF Gevarter, Cindy
O'Reilly, Mark F.
Rojeski, Laura
Sammarco, Nicolette
Lang, Russell
Lancioni, Giulio E.
Sigafoos, Jeff
TI Comparing communication systems for individuals with developmental
disabilities: A review of single-case research studies
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Review
DE Augmentative and alternative communication; Developmental disabilities;
Autism spectrum disorder; Comparisons; Review; Single-case design
ID SPEECH-GENERATING DEVICES; AUTISM SPECTRUM DISORDERS; ALTERNATIVE
COMMUNICATION; FUNCTIONAL COMMUNICATION; PICTURE EXCHANGE; PARTICIPANT
CHARACTERISTICS; MANUAL SIGNS; ACQUISITION; CHILDREN; PREFERENCE
AB Studies that have compared different communication systems for individuals with developmental disabilities were systematically reviewed in an effort to provide information useful for clinical decision making and directions for future research. Specifically, 28 studies that compared (a) non-electronic picture systems to speech generating devices, (b) aided AAC (e.g. picture exchange systems and SGDs) to unaided AAC systems (manual sign), or (c) AAC to speech-language interventions were included in this review. Dependent variables forming the basis for comparison included: (a) effectiveness (e.g. acquisition of systems and/or rate of use), (b) efficiency or rate of skill acquisition (c) participants' preference for systems, (d) occurrence of vocalizations and problem behavior, and (e) generalization across communication partners, settings, and time (i.e. maintenance). Results suggest that clear and consistent differences between communication systems are rare, precluding definitive statements regarding a universal best approach for all people with developmental disabilities. Instead, findings of this review support the consideration of an individual's existing skills, goals and preferences as part of the process of selecting an approach to communication. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Gevarter, Cindy; O'Reilly, Mark F.; Rojeski, Laura; Sammarco, Nicolette] Univ Texas Austin, Austin, TX 78712 USA.
[Lang, Russell] Texas State Univ, San Marcos, TX USA.
[Lancioni, Giulio E.] Univ Bari, I-70121 Bari, Italy.
[Sigafoos, Jeff] Victoria Univ Wellington, Wellington, New Zealand.
RP Gevarter, C (reprint author), Univ Texas Austin, Dept Special Educ, 1912 Speedway,D5300, Austin, TX 78712 USA.
EM cindygev@gmail.com
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NR 76
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 DEC
PY 2013
VL 34
IS 12
BP 4415
EP 4432
DI 10.1016/j.ridd.2013.09.017
PG 18
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 263IZ
UT WOS:000327803600014
PM 24377101
ER
PT J
AU Hahn, LJ
Fidler, DJ
Hepburn, SL
Rogers, SJ
AF Hahn, Laura J.
Fidler, Deborah J.
Hepburn, Susan L.
Rogers, Sally J.
TI Early intersubjective skills and the understanding of intentionality in
young children with Down syndrome
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Down syndrome; Intentionality; Intersubjectivity; Joint attention
ID JOINT ATTENTION; SOCIAL COGNITION; SYNDROME INFANTS; BEHAVIORAL
REENACTMENT; WILLIAMS-SYNDROME; LOOKING BEHAVIOR; FAILED ATTEMPTS;
INTENDED ACTS; AUTISM; COMMUNICATION
AB This study examined the relationship between early intersubjective skills (joint attention and affect sharing) and the development of the understanding of intentionality in 16 young children with Down syndrome (DS) and 16 developmentally matched children with other developmental disabilities (DD). The study of intentionality focuses on how children come to understand the goal-directed actions of others and is an important precursor to the development of more complex social cognitive skills, such as theory of mind. Joint attention and affect sharing were examined using the Early Social Communication Scales (Mundy, Sigman, & Kasari, 1990; Seibert, Hogan, & Mundy, 1982). Meltzoff's (1995) behavioral reenactment paradigm was used to examine the understanding of intentionality. For children with DS, higher rates of affect sharing were associated with poorer intention reading abilities. This pattern was not observed in children with other DD. These results suggest that the intersubjective strengths associated with DS may not support the development of intentionality-interpretation skills. Future research is needed to explore if children with DS have the joint attention behaviors needed to be intentional. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Hahn, Laura J.] Colorado State Univ, Sch Educ, Ft Collins, CO 80523 USA.
[Fidler, Deborah J.] Colorado State Univ, Dept Human Dev & Family Studies, Ft Collins, CO 80523 USA.
[Hepburn, Susan L.] Univ Colorado, Denver Hlth Sci Ctr, Dept Psychiat, Aurora, CO 80045 USA.
[Rogers, Sally J.] Univ Calif Davis, MIND Inst, Sacramento, CA 95817 USA.
RP Hahn, LJ (reprint author), Univ Kansas, Life Span Inst, 1000 Sunnyside Ave,Room 1052, Lawrence, KS 66045 USA.
EM laura.j.hahn@ku.edu
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NR 64
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD DEC
PY 2013
VL 34
IS 12
BP 4455
EP 4465
DI 10.1016/j.ridd.2013.09.027
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 263IZ
UT WOS:000327803600018
PM 24112996
ER
PT J
AU Hanley, M
Riby, DM
Caswell, S
Rooney, S
Back, E
AF Hanley, Mary
Riby, Deborah M.
Caswell, Stephen
Rooney, Sinead
Back, Elisa
TI Looking and thinking: How individuals with Williams syndrome make
judgements about mental states
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Williams syndrome; Mental states; Emotion; Eye gaze; Eye tracking
ID YOUNG-CHILDREN; ASPERGER-SYNDROME; AUTISM; BEHAVIOR; PERCEPTION; ADULTS;
FACES; HETEROGENEITY; RECOGNITION; EXPRESSIONS
AB Individuals with the neuro-developmental disorder Williams syndrome (WS) are characterised by a combination of features which makes this group vulnerable socially, including mild-moderate cognitive difficulties, pro-social drive, and indiscriminate trust. The purpose of this study was to explore a key socio-communicative skill in individuals with WS, namely, mental state recognition abilities. We explored this skill in a detailed way by looking at how well individuals with WS recognise complex everyday mental states, and how they allocate their attention while making these judgements. Participants with WS were matched to two typically developing groups for comparison purposes, a verbal ability matched group and a chronological age matched group. While eye movements were recorded, participants were shown displays of eight different mental states in static and dynamic form, and they performed a forced-choice judgement on the mental state. Mental states were easier to recognise in dynamic form rather than static form. Mental state recognition ability for individuals with WS was poorer than expected by their chronological age, and at the level expected by their verbal ability. However, the pattern of mental state recognition for participants with WS varied according to mental state, and we found some interesting links between ease/difficulty recognising some mental states (worried/do not trust) and the classic behavioural profile associated with WS (high anxiety/indiscriminate trust). Furthermore, eye tracking data revealed that participants with WS allocated their attention atypically, with less time spent attending the information from the face regions. This challenges the widely held understanding of WS being associated with prolonged face and eye gaze, and indicates that there is more heterogeneity within this disorder in terms of socio-perception than previous reports would suggest. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Hanley, Mary; Riby, Deborah M.] Univ Durham, Dept Psychol, Durham DH1 3LE, England.
[Caswell, Stephen; Rooney, Sinead] Queens Univ Belfast, Sch Psychol, Belfast BT7 1NN, Antrim, North Ireland.
[Back, Elisa] Kings Coll London, Dept Psychol, London, England.
RP Hanley, M (reprint author), Univ Durham, Dept Psychol, Sci Labs, South Rd, Durham DH1 3LE, England.
EM mary.hanley@durham.ac.uk
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NR 41
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD DEC
PY 2013
VL 34
IS 12
BP 4466
EP 4476
DI 10.1016/j.ridd.2013.09.026
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 263IZ
UT WOS:000327803600019
PM 24139712
ER
PT J
AU Posserud, MB
Breivik, K
Gillberg, C
Lundervold, AJ
AF Posserud, Maj-Britt
Breivik, Kyrre
Gillberg, Christopher
Lundervold, Astri J.
TI ASSERT - The Autism Symptom SElf-ReporT for adolescents and adults:
Bifactor analysis and validation in a large adolescent population
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism; ASD; Autism symptoms; Screen; Adolescents; Adults; Factor
analysis; ASSERT; Self-report
ID ASPERGER-SYNDROME; DIAGNOSTIC INTERVIEW; FUNCTIONING AUTISM; SPECTRUM
DISORDER; CHILDREN; DSM-5; PREVALENCE; BEHAVIORS; SERVICE; AQ
AB With a view to developing a brief screening instrument for autism symptoms in a general population of adolescents, seven items from the Asperger syndrome (and high-functioning autism) diagnostic interview were adapted for use as self-report in an online questionnaire for youths aged 16-19 years (N= 10,220). The selected items target lack of social understanding (4 items) and rigid and repetitive behavior and interests (RRBI; 3 items). Factor analyses were performed, and the seven items were also validated against self-reported ASD diagnosis. Best statistical model fit was found for a bifactor model with one general factor and two domain specific factors tied to social difficulties and RRBI. Both the general and the domain specific factors were associated with self-reported ASD diagnoses. The scale (referred to as the Autism Symptom SElf-ReporT for Adolescents and Adults ASSERT) had good screening properties with a receiver operating curve-area under the curve (ROC-AUC) of 0.87 and a diagnostic odds ratio (DOR) of 15.8. Applying a modified scoring of the scale further improved the screening properties leading to a ROC-AUC of 0.89 and a DOR of 24.9. The ASSERT holds promise as a brief self-report screen for autism symptoms in adolescents, and further studies should explore its usefulness for adults. (C) 2013 The Authors. Published by Elsevier Ltd. All rights reserved.
C1 [Posserud, Maj-Britt] Haukeland Hosp, Dept Child & Adolescent Psychiat, N-5021 Bergen, Norway.
[Posserud, Maj-Britt; Breivik, Kyrre; Lundervold, Astri J.] Uni Res, Uni Hlth, Reg Ctr Child & Youth Mental Hlth & Child Welf, N-5020 Bergen, Norway.
[Gillberg, Christopher] Univ Gothenburg, Inst Neurosci & Physiol, Gillberg Neuropsychiat Ctr, S-41119 Gothenburg, Sweden.
[Lundervold, Astri J.] Univ Bergen, Dept Biol & Med Psychol, Bergen, Norway.
[Posserud, Maj-Britt; Lundervold, Astri J.] Univ Bergen, KG Jebsen Ctr Res Neuropsychiat Disorders, Bergen, Norway.
RP Posserud, MB (reprint author), Haukeland Hosp, PBU, N-5021 Bergen, Norway.
EM maj-britt.posserud@uni.no; kyrre.breivik@uni.no;
christopher.gillberg@gnc.gu.se; astri.lundervold@psybp.uib.no
CR American Psychiatric Association, 2011, DIAGN STAT MAN MENT
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Yu C. Y., 2002, THESIS U CALIFORNIA
NR 40
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 DEC
PY 2013
VL 34
IS 12
BP 4495
EP 4503
DI 10.1016/j.ridd.2013.09.032
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 263IZ
UT WOS:000327803600022
PM 24176259
ER
PT J
AU Vanderkerken, L
Heyvaert, M
Maes, B
Onghena, P
AF Vanderkerken, Lien
Heyvaert, Mieke
Maes, Bea
Onghena, Patrick
TI Psychosocial interventions for reducing vocal challenging behavior in
persons with autistic disorder: A multilevel meta-analysis of
single-case experiments
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Review
DE Meta-analysis; Systematic review; Single-case; Interventions; Vocal
challenging behavior; Vocal problem behavior; Vocal stereotypy; Autism;
Autistic disorder
ID HIERARCHICAL LINEAR-MODELS; SPECTRUM DISORDERS; SUBJECT RESEARCH;
YOUNG-CHILDREN; EFFECT SIZES; STEREOTYPY; DESIGNS; INDIVIDUALS;
DISABILITY; BIAS
AB Vocal challenging behavior (VCB) forms a common problem in individuals with autistic disorder. Since VCB is associated with negative outcomes for the individual and his or her environment, it is important to know how to manage this type of CB. To evaluate the effectiveness of several psychosocial interventions applied to decrease VCB in individuals with autistic disorder, we conducted a meta-analysis of single-case experiments (SCEs). Fifty-two SCEs, including 74 participants, were combined using a multilevel meta-analysis. The overall treatment effect was large and statistically significant. However, the effect varied significantly over the included studies and participants. Examining this variance, evidence was found for a moderator effect of VCB type and intervention type, with, on average, the largest effects for interventions used to reduce VCB including stereotypical VCB and for interventions containing both antecedent and consequence components. Age, gender, primary treatment setting, publication year, and study quality did not significantly moderate the intervention effect. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Vanderkerken, Lien; Heyvaert, Mieke; Maes, Bea; Onghena, Patrick] Katholieke Univ Leuven, Fac Psychol & Educ Sci, Louvain, Belgium.
[Heyvaert, Mieke] Res Fdn Flanders, Louvain, Belgium.
RP Vanderkerken, L (reprint author), Vanderkelenstr 32,Bus 3765, B-3000 Louvain, Belgium.
EM lien.vanderkerken@student.kuleuven.be
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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Barlow D., 2009, SINGLE CASE EXPT DES
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Chowdhury M, 2011, RES DEV DISABIL, V32, P383, DOI 10.1016/j.ridd.2010.11.015
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NR 84
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 DEC
PY 2013
VL 34
IS 12
BP 4515
EP 4533
DI 10.1016/j.ridd.2013.09.030
PG 19
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 263IZ
UT WOS:000327803600024
PM 24183495
ER
PT J
AU Simo-Pinatella, D
Font-Roura, J
Alomar-Kurz, E
Gine, C
Matson, JL
Cifre, I
AF Simo-Pinatella, David
Font-Roura, Josep
Alomar-Kurz, Elisabeth
Gine, Climent
Matson, Johnny L.
Cifre, Ignacio
TI Antecedent events as predictive variables for behavioral function
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Challenging behavior; Behavioral function; Antecedent variables;
Functional assessment; QABF; CAI; Intellectual disabilities
ID BORDERLINE INTELLECTUAL DISABILITIES; CONTEXTUAL ASSESSMENT INVENTORY;
MAINTAINED ABERRANT BEHAVIOR; AUTISM SPECTRUM DISORDER; FUNCTION QABF
SCALE; ANALYSIS OUTCOMES; AGGRESSIVE-BEHAVIOR; CHALLENGING BEHAVIORS;
PRESESSION ATTENTION; RESIDENTIAL FACILITY
AB Challenging behavior is one of the largest barriers to ensuring that people with intellectual disabilities (ID) are able to participate in the community. These difficulties have become one of the main causes of social exclusion. The research into and treatment of challenging behavior has usually involved the identification of its function and the manipulation of the events or environmental conditions that influence its occurrence (antecedent variables). The present research explores the relationship between antecedents and behavioral function and the extent to which antecedent variables may act as predictors of behavioral function. This relationship is explored using two standardized instruments: Questions About Behavioral Function and Contextual Assessment Inventory. Data from the validation of these instruments for the Spanish population involved 300 participants with ID and 328 challenging behaviors. The results suggest that social/cultural variables are most related to challenging behavior, whereas biological variables seem to only be related to physically maintained behavior. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Simo-Pinatella, David; Alomar-Kurz, Elisabeth; Gine, Climent; Cifre, Ignacio] Ramon Llull Univ, Barcelona 08022, Spain.
[Font-Roura, Josep] CPT Estel, Vic 08500, Spain.
[Matson, Johnny L.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Simo-Pinatella, D (reprint author), Ramon Llull Univ, C Cister 34, Barcelona 08022, Spain.
EM davidsp@blanquerna.url.edu; j.font@santtomas.cat;
ElisabethAK@blanquerna.url.edu; ClimentGG@blanquerna.url.edu;
JohnMatson@aol.com; ignaciocl@blanquerna.url.edu
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NR 71
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 DEC
PY 2013
VL 34
IS 12
BP 4582
EP 4590
DI 10.1016/j.ridd.2013.09.040
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 263IZ
UT WOS:000327803600030
PM 24210354
ER
PT J
AU Lam, YG
AF Lam, Yan Grace
TI Re-examining the cognitive phenotype in autism: A study with young
Chinese children
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism; Theory of mind; Executive function; Weak central coherence;
Cognitive phenotype
ID EXECUTIVE FUNCTION; SPECTRUM DISORDERS; CENTRAL COHERENCE; MIND;
SCHIZOPHRENIA; INDIVIDUALS; PERFORMANCE
AB Deficits consistently found in autism include an impaired "theory of mind", weak central coherence, and deficits in executive function. The current study examined whether this traditional cluster of symptoms existed in a group of Chinese-speaking children with autism. Sixteen high-functioning, non-retarded children with autism were matched to 16 typically developing (TD) children on gender, non-verbal IQ and age. Non-verbal IQ's of all participants were measured using the Raven Progressive Matrices. Each participant was tested individually on measures of "theory of mind", central coherence and executive function. Results indicated that most, but not all, participants with autism performed significantly poorer on two standard measures of first-order "theory of mind," although there was no significant difference on two other measures of that domain. As expected, they performed significantly worse on executive function tasks. However, the hypothesis of weak central coherence in autism was not substantiated. There was no evidence that these three cognitive impairments co-existed in individuals with autism. More likely, each of these deficits appears singly or in pair instead of forming a cluster. (C) 2013 Elsevier Ltd. All rights reserved.
C1 Hong Kong Inst Educ, Hong Kong, Hong Kong, Peoples R China.
RP Lam, YG (reprint author), Hong Kong Inst Educ, Hong Kong, Hong Kong, Peoples R China.
EM gylam@ied.edu.hk
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NR 30
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 DEC
PY 2013
VL 34
IS 12
BP 4591
EP 4598
DI 10.1016/j.ridd.2013.09.039
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 263IZ
UT WOS:000327803600031
PM 24171826
ER
PT J
AU Kirk, HE
Hocking, DR
Riby, DM
Cornish, KM
AF Kirk, Hannah E.
Hocking, Darren R.
Riby, Deborah M.
Cornish, Kim M.
TI Linking social behaviour and anxiety to attention to emotional faces in
Williams syndrome
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Williams syndrome; Anxiety; Eye gaze; Emotional expressions; Social
responsiveness
ID FACIAL EXPRESSIONS; AUTISM SPECTRUM; YOUNG-CHILDREN; AMYGDALA;
INDIVIDUALS; PERCEPTION; GAZE; HETEROGENEITY; PHENOTYPE; DISORDER
AB The neurodevelopmental disorder Williams syndrome (WS) has been associated with a social phenotype of hypersociability, non-social anxiety and an unusual attraction to faces. The current study uses eye tracking to explore attention allocation to emotionally expressive faces. Eye gaze and behavioural measures of anxiety and social reciprocity were investigated in adolescents and adults with WS when compared to typically developing individuals of comparable verbal mental age (VMA) and chronological age (CA). Results showed significant associations between high levels of behavioural anxiety and attention allocation away from the eye regions of threatening facial expressions in WS. The results challenge early claims of a unique attraction to the eyes in WS and suggest that individual differences in anxiety may mediate the allocation of attention to faces in WS. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Kirk, Hannah E.; Hocking, Darren R.; Cornish, Kim M.] Monash Univ, Sch Psychol & Psychiat, Clayton, Vic 3800, Australia.
[Riby, Deborah M.] Univ Durham, Dept Psychol, Durham DH1 3HP, England.
RP Kirk, HE (reprint author), Monash Univ, Fac Med, Sch Psychol & Psychiat, Bldg 17, Clayton, Vic 3800, Australia.
EM hannah.kirk@monash.edu
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NR 46
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 DEC
PY 2013
VL 34
IS 12
BP 4608
EP 4616
DI 10.1016/j.ridd.2013.09.042
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 263IZ
UT WOS:000327803600033
PM 24210355
ER
PT J
AU Barker, RM
Akaba, S
Brady, NC
Thiemann-Bourque, K
AF Barker, R. Michael
Akaba, Sanae
Brady, Nancy C.
Thiemann-Bourque, Kathy
TI Support for AAC Use in Preschool, and Growth in Language Skills, for
Young Children with Developmental Disabilities
SO AUGMENTATIVE AND ALTERNATIVE COMMUNICATION
LA English
DT Article
DE Augmented input; Peer use; Prompting; Receptive language; Expressive
language
ID EXCHANGE COMMUNICATION-SYSTEM; SPEECH-GENERATING DEVICES; AUTISM
SPECTRUM DISORDERS; PICTURE EXCHANGE; ALTERNATIVE COMMUNICATION; SYMBOL
COMPREHENSION; INTERVENTIONS; NEEDS; PECS; INDIVIDUALS
AB Little is known about how AAC use in preschool may impact language development for children with complex communication needs (e.g., children with autism, cerebral palsy, Down syndrome, and other developmental disabilities). We developed two surveys (a) to describe children's use of AAC in preschool classrooms, as well as the use of prompts and question asking, and augmented input by their communication partners; and (b) to describe teachers' experience, training, and perceived support in providing AAC. We then examined the relationship between children's experience of AAC, including the use of prompts, question asking, and augmented input by their partners, and the growth of receptive and expressive language for 71 children with developmental disabilities over a two-year period. The use of AAC by peers to provide augmented input was associated with stronger language growth; the use of prompting and question asking by teachers was associated with weaker language growth. Teachers reported that they received little training regarding ways to support a child's use of AAC. Results suggest the need for further research on promoting AAC use at the preschool level, including research to promote peer interactions for AAC users.
C1 [Barker, R. Michael; Akaba, Sanae; Thiemann-Bourque, Kathy] Univ Kansas, Schiefelbusch Inst Life Span Studies, Lawrence, KS 66045 USA.
[Brady, Nancy C.] Univ Kansas, Dept Speech Language Hearing Sci & Disorders, Lawrence, KS 66045 USA.
RP Barker, RM (reprint author), 4202 E Fowler Ave,PCD 1017, Tampa, FL 33620 USA.
EM rmbarker@usf.edu
RI Barker, R. Michael/B-5737-2015
OI Barker, R. Michael/0000-0002-1625-6698
FU NIH [T32 HD057844, P01 HD018955, HD002528]
FX This study was conducted with the support of NIH grants T32 HD057844,
P01 HD018955, and HD002528, awarded to the University of Kansas.
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NR 53
TC 3
Z9 3
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 0743-4618
EI 1477-3848
J9 AUGMENT ALTERN COMM
JI Augment. Altern. Commun.
PD DEC
PY 2013
VL 29
IS 4
BP 334
EP 346
DI 10.3109/07434618.2013.848933
PG 13
WC Audiology & Speech-Language Pathology; Rehabilitation
SC Audiology & Speech-Language Pathology; Rehabilitation
GA 256XM
UT WOS:000327347400004
PM 24229337
ER
PT J
AU Wachtel, LE
Shorter, E
AF Wachtel, Lee Elizabeth
Shorter, Edward
TI Self-injurious behaviour in children: A treatable catatonic syndrome
SO AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY
LA English
DT Article
ID ELECTROCONVULSIVE-THERAPY; AUTISM
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[Shorter, Edward] Univ Toronto, Fac Med, Toronto, ON M5S 3E2, Canada.
RP Shorter, E (reprint author), Univ Toronto, Fac Med, Hist Med Program, 150 Coll St,83G, Toronto, ON M5S 3E2, Canada.
EM history.medicine@utoronto.ca
FU Canadian Institutes for Health Research [AMS-94689]
FX The historical research reported in this paper was supported in part by
a grant from the Canadian Institutes for Health Research (grant number
AMS-94689).
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TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0004-8674
EI 1440-1614
J9 AUST NZ J PSYCHIAT
JI Aust. N. Z. J. Psych.
PD DEC
PY 2013
VL 47
IS 12
BP 1113
EP 1115
DI 10.1177/0004867413506500
PG 3
WC Psychiatry
SC Psychiatry
GA 257FR
UT WOS:000327369500005
PM 24071748
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PT J
AU Basu, S
Parry, P
AF Basu, Soumya
Parry, Peter
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formulation
SO AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY
LA English
DT Article
DE Child psychiatry; autistic spectrum disorders; epidemic; diagnostic
formulation
C1 [Basu, Soumya] Latrobe Reg Hosp, Traralgon, Vic 3844, Australia.
[Parry, Peter] Univ Queensland, Nundah Child & Youth Mental Hlth Serv, Nundah, Qld, Australia.
RP Basu, S (reprint author), Latrobe Reg Hosp, 20 Washington St, Traralgon, Vic 3844, Australia.
EM soumyabasu@y7mail.com
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NR 14
TC 4
Z9 4
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0004-8674
EI 1440-1614
J9 AUST NZ J PSYCHIAT
JI Aust. N. Z. J. Psych.
PD DEC
PY 2013
VL 47
IS 12
BP 1116
EP 1118
DI 10.1177/0004867413509694
PG 3
WC Psychiatry
SC Psychiatry
GA 257FR
UT WOS:000327369500006
PM 24168814
ER
PT J
AU Ahmed, AA
Vander Wyk, BC
AF Ahmed, Alex A.
Vander Wyk, Brent C.
TI Neural processing of intentional biological motion in unaffected
siblings of children with autism spectrum disorder: An fMRI study
SO BRAIN AND COGNITION
LA English
DT Article
DE Action perception; Autism; Endophenotype; Superior temporal sulcus; fMRI
ID ACTIVATION; INDIVIDUALS; BRAIN; PHENOTYPE; TRAITS; TWIN
AB Despite often showing behaviorally typical levels of social cognitive ability, unaffected siblings of children with autism spectrum disorder have been found to show similar functional and morphological deficits within brain regions associated with social processing. They have also been reported to show increased activation to biological motion in these same regions, such as the posterior superior temporal sulcus (pSTS), relative to both children with autism and control children. It has been suggested that this increased activation may represent a compensatory reorganization of these regions as a result of the highly heritable genetic influence of autism. However, the response patterns of unaffected siblings in the domain of action perception are unstudied, and the phenomenon of compensatory activation has not yet been replicated. The present study used functional magnetic resonance imaging to determine the neural responses to intentional biological actions in 22 siblings of children with autism and 22 matched controls. The presented actions were either congruent or incongruent with the actor's emotional cue. Prior studies reported that typically developing children and adults, but not children with autism, show increased activation to incongruent actions (relative to congruent), within the pSTS and dorsolateral prefrontal cortex. We report that unaffected siblings did not show a compensatory response, or a preference for incongruent over congruent trials, in any brain region. Moreover, interaction analyses revealed a sub-region of the pSTS in which control children showed an incongruency preference to a significantly greater degree than siblings, which suggests a localized deficit in siblings. A sample of children with autism also did not show differential activation in the pSTS, providing further evidence that it is an area of selective disruption in children with autism and siblings. While reduced activation to both conditions was unique to the autism sample, lack of differentiation to incongruent and congruent intentional actions was common to both children with ASD and unaffected siblings. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Ahmed, Alex A.; Vander Wyk, Brent C.] Yale Univ, Sch Med, Ctr Child Study, New Haven, CT 06519 USA.
RP Vander Wyk, BC (reprint author), Yale Univ, Sch Med, Ctr Child Study, 230 South Frontage Rd, New Haven, CT 06519 USA.
EM brent.vanderwyk@yale.edu
FU NIHM [R01MH084080]; Simons Foundation
FX This research was funded by NIHM Grant R01MH084080 and the Simons
Foundation.
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NR 33
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 DEC
PY 2013
VL 83
IS 3
BP 297
EP 306
DI 10.1016/j.bandc.2013.09.007
PG 10
WC Neurosciences; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA 256EC
UT WOS:000327291500007
PM 24128657
ER
PT J
AU Tallant, J
AF Tallant, Jonathan
TI Pretense, Mathematics, and Cognitive Neuroscience
SO BRITISH JOURNAL FOR THE PHILOSOPHY OF SCIENCE
LA English
DT Article
ID PRIMATE CEREBRAL-CORTEX; INTRAPARIETAL SULCUS; HUMAN INFANTS; AUTISM;
BRAIN; PLAY; DYSCALCULIA; CHILDREN
AB A pretense theory of a given discourse is a theory that claims that we do not believe or assert the propositions expressed by the sentences we token (speak, write, and so on) when taking part in that discourse. Instead, according to pretense theory, we are speaking from within a pretense. According to pretense theories of mathematics, we engage with mathematics as we do a pretense. We do not use mathematical language to make claims that express propositions and, thus, we do not use mathematical discourse to make claims that are either true or false. In this paper I make use of recent findings from cognitive neuroscience and developmental science to suggest that pretense theories of mathematics fail.
C1 Univ Nottingham, Dept Philosophy, Nottingham NG7 2RD, England.
RP Tallant, J (reprint author), Univ Nottingham, Dept Philosophy, Nottingham NG7 2RD, England.
EM jonathan.tallant@nottingham.ac.uk
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 43
TC 1
Z9 1
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0007-0882
EI 1464-3537
J9 BRIT J PHILOS SCI
JI Br. J. Philos. Sci.
PD DEC
PY 2013
VL 64
IS 4
BP 817
EP 835
DI 10.1093/bjps/axs013
PG 19
WC History & Philosophy Of Science
SC History & Philosophy of Science
GA 258KA
UT WOS:000327456900007
ER
PT J
AU Langer, JK
Rodebaugh, TL
AF Langer, Julia K.
Rodebaugh, Thomas L.
TI Social Anxiety and Gaze Avoidance: Averting Gaze but not Anxiety
SO COGNITIVE THERAPY AND RESEARCH
LA English
DT Article
DE Social anxiety; Gaze avoidance; Eye contact; Social interaction; Safety
behaviors
ID FACIAL EXPRESSIONS; SAFETY BEHAVIORS; NEGATIVE AFFECT; PHOBIA SCALE; FIT
INDEXES; VALIDATION; MAINTENANCE; DISORDERS; AUTISM; MODEL
AB Despite preliminary evidence that individuals with higher social anxiety tend to avoid eye contact during at least some social encounters, the function of this behavior remains unknown. Cognitive theories of social anxiety suggest that gaze avoidance may function as an attempt to avoid signs of social threat. However, it is unclear whether this behavior is effective for reducing anxiety and, if it is effective, whether this benefit is only present in the short-term. The goal of the current study was to test whether gaze avoidance is effective in reducing anxiety for individuals with higher social anxiety during short social conversations among peers. Participants completed a short social interaction with another undergraduate participant in which eye contact was manipulated halfway through the interaction. Recordings of the interactions were later coded for amount of eye contact; this allowed us to obtain an objective measure of adherence to the manipulation instructions. Participants were instructed to make either more or less eye contact, or continue as before. Being asked to make less eye contact was the most anxiety-provoking condition for participants with higher social anxiety. We propose, in line with previous research on safety behaviors, that avoiding eye contact in an effort to regulate state anxiety is an ineffective strategy over time for individuals with higher social anxiety. Therefore gaze avoidance may be a particularly important safety behavior to target in treatment for social anxiety disorder.
C1 [Langer, Julia K.; Rodebaugh, Thomas L.] Washington Univ, St Louis, MO 63130 USA.
RP Rodebaugh, TL (reprint author), Washington Univ, 1 Brookings Dr,Campus Box 1125, St Louis, MO 63130 USA.
EM jklanger@wustl.edu; rodebaugh@wustl.edu
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NR 39
TC 2
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0147-5916
EI 1573-2819
J9 COGNITIVE THER RES
JI Cogn. Ther. Res.
PD DEC
PY 2013
VL 37
IS 6
BP 1110
EP 1120
DI 10.1007/s10608-013-9546-z
PG 11
WC Psychology, Clinical
SC Psychology
GA 253XS
UT WOS:000327123700003
ER
PT J
AU Beighley, JS
Matson, JL
Rieske, RD
Jang, J
Cervantes, PE
Goldin, RL
AF Beighley, Jennifer S.
Matson, Johnny L.
Rieske, Robert D.
Jang, Jina
Cervantes, Paige E.
Goldin, Rachel L.
TI Comparing challenging behavior in children diagnosed with autism
spectrum disorders according to the DSM-IV-TR and the proposed DSM-5
SO DEVELOPMENTAL NEUROREHABILITATION
LA English
DT Article
DE Autism; challenging behavior; DSM-5
ID SELF-INJURIOUS-BEHAVIOR; INTELLECTUAL DISABILITY; MENTAL-RETARDATION;
ASPERGERS SYNDROME; FEEDING PROBLEMS; YOUNG-CHILDREN; SOCIAL-SKILLS;
DASH-II; CRITERIA; RISK
AB Objective: The aim of the current study is to investigate challenging behavior in children who may no longer meet criteria for an autism spectrum disorder (ASD) diagnosis according to the proposed fifth edition of the Diagnostic and Statistical Manual (DSM-5).
Method: Children and adolescents (n = 459) were separated into three groups including those who met criteria for ASD according to the DSM-5 criteria (n = 219); those who will no longer qualify for an ASD diagnosis according to the DSM-5 but met criteria according to the DSM-IV-TR (n = 109); and a control group (n = 131). Scores on the Autism Spectrum Disorders - Problem Behaviors for Children (ASD-PB-C) were compared among groups.
Results: The DSM-5 captured a slightly more impaired population in terms of problem behavior.
Conclusion: Implications regarding access to treatment for those no longer meeting criteria need to be taken into consideration in the coming months.
C1 [Beighley, Jennifer S.; Matson, Johnny L.; Rieske, Robert D.; Jang, Jina; Cervantes, Paige E.; Goldin, Rachel L.] Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
RP Beighley, JS (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM jbeigh1@lsu.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2012, DSM 5 FUT PSYCH DIAG
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NR 64
TC 3
Z9 3
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 DEC
PY 2013
VL 16
IS 6
BP 375
EP 381
DI 10.3109/17518423.2012.760119
PG 7
WC Clinical Neurology; Pediatrics; Rehabilitation
SC Neurosciences & Neurology; Pediatrics; Rehabilitation
GA 256OG
UT WOS:000327322600002
PM 23477536
ER
PT J
AU Valla, JM
Belmonte, MK
AF Valla, Jeffrey M.
Belmonte, Matthew K.
TI Detail-oriented cognitive style and social communicative deficits,
within and beyond the autism spectrum: Independent traits that grow into
developmental interdependence
SO DEVELOPMENTAL REVIEW
LA English
DT Article
DE Autism spectrum conditions; Diagnostic triad; Broader autism phenotype;
Normative cognitive variation; Empathising; Systemising
ID HIGH-FUNCTIONING AUTISM; WEAK CENTRAL COHERENCE;
DIAGNOSTIC-OBSERVATION-SCHEDULE; NORMAL SEX-DIFFERENCES; REPETITIVE
BEHAVIORS; GENERAL-POPULATION; ASPERGER-SYNDROME; QUOTIENT AQ; REVISED
ALGORITHMS; EXECUTIVE FUNCTION
AB At the heart of debates over underlying causes of autism is the "Kanner hypothesis" that autistic deficits in social reciprocity, and a cognitive/perceptual 'style' favouring detail-oriented cognition, co-vary in autistic individuals. A separate line of work indicates these two domains are normally distributed throughout the population, with autism representing an extremity. This realisation brings the Kanner debate into the realm of normative co-variation, providing more ways to test the hypothesis, and insights into typical development; for instance, in the context of normative functioning, the Kanner hypothesis implies social costs to spatial/numerical prowess. In light of this growing body of research, we review relevant factor analytic and correlational, behavioural studies. Findings are then synthesised into three themes: an alternative triad of primary autistic trait categories - Social Interaction Deficits, Cognitive Inflexibility, and Sensory Abnormalities - that more accurately reflects the factor structure of autistic traits; continuity between clinical and non-clinical autism-spectrum trait presentation; and indications that although social and non-social autistic traits may be initially independent, Kanner-like co-variance emerges behaviourally from dynamic trait interactions over the course of development. A dynamic developmental model subsuming these patterns is offered, and its advantages demonstrated in a novel account of ritualistic behaviours: as developmentally emergent, compensatory mechanisms for interactions between cognitive inflexibility and sensory abnormalities. We conclude with the broader imperative that behavioural scientists appealing for directly and exclusively genetic links may instead benefit from a developmental framing within their own discipline. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Valla, Jeffrey M.; Belmonte, Matthew K.] Natl Brain Res Ctr, Manesar, India.
[Valla, Jeffrey M.] Cornell Univ, Dept Human Dev, Ithaca, NY 14853 USA.
[Belmonte, Matthew K.] Groden Ctr, Providence, RI USA.
[Belmonte, Matthew K.] Nottingham Trent Univ, Nottingham, England.
[Belmonte, Matthew K.] Brown Univ, Ctr Study Human Dev, Providence, RI 02912 USA.
RP Valla, JM (reprint author), Natl Brain Res Ctr, NH 8 Manesar, Gurgaon 122051, Haryana, India.
EM jmv34@cornell.edu
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NR 103
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 0273-2297
EI 1090-2406
J9 DEV REV
JI Dev. Rev.
PD DEC
PY 2013
VL 33
IS 4
BP 371
EP 398
DI 10.1016/j.dr.2013.08.004
PG 28
WC Psychology, Developmental
SC Psychology
GA 256CE
UT WOS:000327286500005
ER
PT J
AU Delafield-Butt, JT
Gangopadhyay, N
AF Delafield-Butt, Jonathan T.
Gangopadhyay, Nivedita
TI Sensorimotor intentionality: The origins of intentionality in
prospective agent action
SO DEVELOPMENTAL REVIEW
LA English
DT Article
DE Intentionality; Sensorimotor; Action; Embodied cognition; Development;
Autism
ID MOTOR DEVELOPMENT; NEUROMUSCULAR ACTIVITY; CONCEPTUAL-FRAMEWORK;
LANGUAGE-DEVELOPMENT; REACHING MOVEMENTS; SPECTRUM DISORDER; HAND
ORIENTATION; DEVELOPING BODY; FETAL BEHAVIOR; ARM MOVEMENTS
AB Efficient prospective motor control, evident in human activity from birth, reveals an adaptive intentionality of a primary, pre-reflective, and pre-conceptual nature that we identify here as sensorimotor intentionality. We identify a structural continuity between the emergence of this earliest form of prospective movement and the structure of mental states as intentional or content-directed in more advanced forms. We base our proposal on motor control studies, from foetal observations through infancy. These studies reveal movements are guided by anticipations of future effects, even from before birth. This implies that these movements, even if they are simple and discrete, are the actions of an intentional agent. We develop this notion to present a theory of the developing organisation of a core feature of cognition as embodied agent action, from early single actions with proximal prospectivity to the complex serial ordering of actions into projects to reach distal goals. We claim the prospective structural continuity from early and simple actions to later complex projects of serially-ordered actions confirms the existence of an ontogenetically primary form of content directedness that is a driver for learning and development. Its implications for understanding autism are discussed. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Delafield-Butt, Jonathan T.] Univ Copenhagen, Dept Psychol, DK-1168 Copenhagen, Denmark.
[Delafield-Butt, Jonathan T.] Univ Edinburgh, Inst Adv Studies, Humanities & Percept Movement Act Res Consortium, Edinburgh EH8 9YL, Midlothian, Scotland.
[Delafield-Butt, Jonathan T.] Univ Strathclyde, Fac Humanities & Social Sci, Glasgow G4 0LT, Lanark, Scotland.
[Gangopadhyay, Nivedita] Ruhr Univ Bochum, Inst Philosophie 2, Ctr Mind Brain & Cognit Evolut, Bochum, Germany.
RP Delafield-Butt, JT (reprint author), Univ Strathclyde, Fac Humanities & Social Sci, St James Rd, Glasgow G4 0LT, Lanark, Scotland.
EM jonathan.delafield-butt@strath.ac.uk
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NR 213
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 0273-2297
EI 1090-2406
J9 DEV REV
JI Dev. Rev.
PD DEC
PY 2013
VL 33
IS 4
BP 399
EP 425
DI 10.1016/j.dr.2013.09.001
PG 27
WC Psychology, Developmental
SC Psychology
GA 256CE
UT WOS:000327286500006
ER
PT J
AU Healy, E
Reichenberg, A
Nam, KW
Allin, MPG
Walshe, M
Rifkin, L
Murray, RM
Nosarti, C
AF Healy, Elaine
Reichenberg, Abraham
Nam, Kie Woo
Allin, Matthew P. G.
Walshe, Muriel
Rifkin, Larry
Murray, Robin M.
Nosarti, Chiara
TI Preterm Birth and Adolescent Social Functioning-Alterations in
Emotion-Processing Brain Areas
SO JOURNAL OF PEDIATRICS
LA English
DT Article
ID YOUNG-ADULTS; PSYCHIATRIC-DISORDERS; SPECTRUM DISORDER; SCHIZOPHRENIA;
CHILDREN; WEIGHT; STRESS; AUTISM; RISK; OUTCOMES
AB Objective To investigate the relationship between preterm birth, adolescent, and adult psychosocial outcomes, and alterations in gray matter volume.
Study design Individuals (n=73) born at < 33 weeks of gestation (very preterm) and 49 controls completed the Child Behavior Checklist (CBCL) at age 15 years to identify 'social immaturity' (SI) cases. Voxel-based morphometry was used to investigate gray matter volumes according to CBCL-SI 'caseness.' The Clinical Interview Schedule-Revised (CIS-R) was administered at age 19 years.
Results Very preterm adolescents were almost 4 times more likely to reach CBCL-SI 'caseness' compared with controls. Ex-preterm SI 'cases' had increased gray matter volume in the fusiform gyrus bilaterally (Talairach coordinates: x=60, y=-27, z=-30; Z=3.78; x=-61, y=-35, z=-27; Z=3.56, after correction for multiple comparisons) compared with ex-preterm SI 'noncases.' Left fusiform volume displayed a stronger correlation with ipsilateral orbitofrontal cortex in SI 'cases' (x=-15, y=22, z=-26; Z=3.64). CIS-R total scores were slightly higher in ex-preterm individuals compared with controls. In the whole sample, SI 'cases' in midadolescence also had higher CIS-R scores in adulthood compared with 'noncases' (SI 'cases': mean=5.7, 95% CI=4.0-7.4; SI 'noncases': mean=2.7, 95% CI=1.1-4.3; F=6.4, df=74; P=.013).
Conclusions Ex-preterm adolescents had increased socialization problems in adolescence, which were associated with volumetric alterations in an emotion-processing brain network. Atypical social development is linked to an increased vulnerability to psychiatric disorder.
C1 [Healy, Elaine; Reichenberg, Abraham; Nam, Kie Woo; Allin, Matthew P. G.; Walshe, Muriel; Rifkin, Larry; Murray, Robin M.; Nosarti, Chiara] Kings Coll London, Kings Hlth Partners, Inst Psychiat, Dept Psychosis Studies, London SE5 8AF, England.
[Healy, Elaine] Lucena Clin, Child & Adolescent Mental Hlth Serv, Dublin, Ireland.
RP Nosarti, C (reprint author), Kings Coll London, Kings Hlth Partners, Inst Psychiat, Dept Psychosis Studies, Box P096,De Crespigny Pk, London SE5 8AF, England.
EM chiara.nosarti@kcl.ac.uk
RI Nosarti, Chiara/G-5638-2010
OI Nosarti, Chiara/0000-0001-6305-9710
FU Sir Jules Thorne Trust; Wellcome Trust
FX Supported by the Sir Jules Thorne Trust and the Wellcome Trust (to R. M.
and L. R.). The authors declare no conflicts of interest.
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NR 57
TC 7
Z9 7
PU MOSBY-ELSEVIER
PI NEW YORK
PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0022-3476
EI 1097-6833
J9 J PEDIATR-US
JI J. Pediatr.
PD DEC
PY 2013
VL 163
IS 6
BP 1596
EP 1604
DI 10.1016/j.jpeds.2013.08.011
PG 9
WC Pediatrics
SC Pediatrics
GA 259RE
UT WOS:000327543200017
PM 24070828
ER
PT J
AU Zand, DH
Braddock, B
Baig, W
Deasy, J
Maxim, R
AF Zand, Debra H.
Braddock, Barbara
Baig, Waseem
Deasy, Jean
Maxim, Rolanda
TI Role of Pediatricians in Fostering Resilience in Parents of Children
with Autism Spectrum Disorders
SO JOURNAL OF PEDIATRICS
LA English
DT Editorial Material
ID DEVELOPMENTAL-DISABILITIES; STRESS; INTERVENTION; HEALTH; EXPERIENCE;
MODERATORS; FAMILIES; SUPPORT
C1 [Zand, Debra H.; Braddock, Barbara; Baig, Waseem; Maxim, Rolanda] St Louis Univ, Sch Med, St Louis, MO 63110 USA.
[Deasy, Jean] Sisters St Mary Cardinal Glennon Childrens Med Ct, St Louis, MO USA.
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NR 32
TC 1
Z9 1
PU MOSBY-ELSEVIER
PI NEW YORK
PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0022-3476
EI 1097-6833
J9 J PEDIATR-US
JI J. Pediatr.
PD DEC
PY 2013
VL 163
IS 6
BP 1769
EP 1771
DI 10.1016/j.jpeds.2013.06.074
PG 3
WC Pediatrics
SC Pediatrics
GA 259RE
UT WOS:000327543200048
PM 23919907
ER
PT J
AU Lugo, JN
Smith, GD
Morrison, JB
White, J
AF Lugo, Joaquin N.
Smith, Gregory D.
Morrison, Jessica B.
White, Jessika
TI Deletion of PTEN produces deficits in conditioned fear and increases
fragile X mental retardation protein
SO LEARNING & MEMORY
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; LHERMITTE-DUCLOS-DISEASE; LONG-TERM
DEPRESSION; SYNAPTIC PLASTICITY; MOUSE MODEL; TUMOR-SUPPRESSOR; TENSIN
HOMOLOG; SOMA SIZE; MICE; PHOSPHATASE
AB The phosphatase and tensin homolog detected on chromosome 10 (PTEN) gene product modulates activation of the phosphatidylinositol 3-kinase (PI3K)/AKT pathway. The PI3K pathway has been found to be involved in the regulation of the fragile X mental retardation protein, which is important for long-term depression and in the formation of new memories. We used delayed fear conditioning and trace fear conditioning to determine learning and memory deficits in neuron subset-specific Pten (NS-Pten) conditional knockout (KO) mice. We found that NS-Pten KO mice had deficits in contextual learning and trace conditioning, but did not have deficits in the ability to learn a conditioned stimulus. Furthermore, we found increased levels in the total and phosphorylated forms of the fragile X mental retardation protein (FMRP) in the hippocampus of NS-Pten KO mice.
C1 [Lugo, Joaquin N.; Morrison, Jessica B.; White, Jessika] Baylor Univ, Dept Psychol & Neurosci, Waco, TX 76798 USA.
[Lugo, Joaquin N.; Smith, Gregory D.] Baylor Univ, Inst Biomed Studies, Waco, TX 76798 USA.
RP Lugo, JN (reprint author), Baylor Univ, Dept Psychol & Neurosci, Waco, TX 76798 USA.
EM Joaquin_lugo@baylor.edu
FU Baylor University Research Council; Epilepsy Foundation
FX This study was supported from a Baylor University Research Council grant
and a research grant from the Epilepsy Foundation.
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PU COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
PI COLD SPRING HARBOR
PA 1 BUNGTOWN RD, COLD SPRING HARBOR, NY 11724 USA
SN 1072-0502
EI 1549-5485
J9 LEARN MEMORY
JI Learn. Mem.
PD DEC
PY 2013
VL 20
IS 12
BP 670
EP 673
DI 10.1101/lm.032839.113
PG 4
WC Neurosciences; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA 258MS
UT WOS:000327464000002
PM 24241749
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PT J
AU Hamilton, PJ
Campbell, NG
Sharma, S
Erreger, K
Hansen, FH
Saunders, C
Belovich, AN
Sahai, MA
Cook, EH
Gether, U
Mchaourab, HS
Matthies, HJG
Sutcliffe, JS
Galli, A
AF Hamilton, P. J.
Campbell, N. G.
Sharma, S.
Erreger, K.
Hansen, F. Herborg
Saunders, C.
Belovich, A. N.
Sahai, M. A.
Cook, E. H.
Gether, U.
Mchaourab, H. S.
Matthies, H. J. G.
Sutcliffe, J. S.
Galli, A.
CA NIH ARRA Autism Sequencing Consort
TI De novo mutation in the dopamine transporter gene associates dopamine
dysfunction with autism spectrum disorder
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE anomalous dopamine efflux; autism spectrum disorder; de novo mutation;
dopamine; Drosophila melanogaster; transporter
ID PERVASIVE DEVELOPMENTAL DISORDER; DEFICIT HYPERACTIVITY DISORDER;
ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; COPY-NUMBER VARIATION;
NEUROTRANSMITTER TRANSPORTERS; DISTANCE MEASUREMENTS;
TYROSINE-HYDROXYLASE; SEQUENCE VARIATION; BACTERIAL HOMOLOG;
CRYSTAL-STRUCTURE
AB De novo genetic variation is an important class of risk factors for autism spectrum disorder (ASD). Recently, whole-exome sequencing of ASD families has identified a novel de novo missense mutation in the human dopamine (DA) transporter (hDAT) gene, which results in a Thr to Met substitution at site 356 (hDAT T356M). The dopamine transporter (DAT) is a presynaptic membrane protein that regulates dopaminergic tone in the central nervous system by mediating the high-affinity reuptake of synaptically released DA, making it a crucial regulator of DA homeostasis. Here, we report the first functional, structural and behavioral characterization of an ASD-associated de novo mutation in the hDAT. We demonstrate that the hDAT T356M displays anomalous function, characterized as a persistent reverse transport of DA (substrate efflux). Importantly, in the bacterial homolog leucine transporter, substitution of A289 (the homologous site to T356) with a Met promotes an outward-facing conformation upon substrate binding. In the substrate-bound state, an outward-facing transporter conformation is required for substrate efflux. In Drosophila melanogaster, the expression of hDAT T356M in DA neurons-lacking Drosophila DAT leads to hyperlocomotion, a trait associated with DA dysfunction and ASD. Taken together, our findings demonstrate that alterations in DA homeostasis, mediated by aberrant DAT function, may confer risk for ASD and related neuropsychiatric conditions.
C1 [Hamilton, P. J.; Campbell, N. G.; Galli, A.] Vanderbilt Univ, Sch Med, Ctr Mol Neurosci, Nashville, TN 37232 USA.
[Sharma, S.; Erreger, K.; Mchaourab, H. S.; Matthies, H. J. G.; Sutcliffe, J. S.; Galli, A.] Vanderbilt Univ, Sch Med, Dept Mol Physiol & Biophys, Nashville, TN 37232 USA.
[Hansen, F. Herborg; Gether, U.] Univ Copenhagen, Fac Hlth & Med Sci, Dept Neurosci & Pharmacol, Mol Neuropharmacol Lab, Copenhagen, Denmark.
[Saunders, C.; Belovich, A. N.; Galli, A.] Vanderbilt Univ, Sch Med, Dept Pharmacol, Nashville, TN 37232 USA.
[Sahai, M. A.] Weill Cornell Med Coll, Dept Physiol & Biophys, New York, NY USA.
[Cook, E. H.] Univ Illinois, Dept Psychiat, Chicago, IL 60612 USA.
[Sutcliffe, J. S.] Vanderbilt Univ, Sch Med, Dept Psychiat, Nashville, TN 37232 USA.
[Galli, A.] Vanderbilt Univ, Sch Med, Neurosci Program Subst Abuse, Nashville, TN 37232 USA.
RP Matthies, HJG (reprint author), Vanderbilt Univ, Sch Med, Dept Mol Physiol & Biophys, 465 21st Ave South,Room 7141A MRB 3, Nashville, TN 37232 USA.
EM heinrich.j.matthies@vanderbilt.edu; jim.sutcliffe@vanderbilt.edu;
aurelio.galli@vanderbilt.edu
RI Sutcliffe, James/C-1348-2012
OI Sutcliffe, James/0000-0001-5200-6007
FU NSF [DGE0909667, F31 DA 035535-01, U54-GM087519, P50 HD055751, DA13975,
P01 DA12408, MH089482]
FX We gratefully acknowledge investigators in the NIH ARRA Autism
Sequencing Consortium: MJ Daly, RA Gibbs, E Boerwinkle, JD Buxbaum, EH
Cook, B Devlin, ET Lim, BM Neale, K Roeder, A Sabo, GD Schellenberg, C
Stevens and JS Sutcliffe; and programmatic support and contribution to
the AASC project by T Lehner (NIMH), P Bender (NIMH) and A Felsenfeld
(NHGRI). This work was supported by NSF Graduate Research Fellowship
DGE0909667 and F31 DA 035535-01 (PJH), U54-GM087519 (SS and HSM), P50
HD055751 (EHC), DA13975 and P01 DA12408 (AG and UG), and MH089482 (JSS).
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NR 80
TC 16
Z9 17
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 DEC
PY 2013
VL 18
IS 12
BP 1315
EP 1323
DI 10.1038/mp.2013.102
PG 9
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA 258HZ
UT WOS:000327451400014
PM 23979605
ER
PT J
AU Griot, M
Poussin, M
Osiurak, F
AF Griot, M.
Poussin, M.
Osiurak, F.
TI Fraternal experience confronted to intellectual disability
SO PRATIQUES PSYCHOLOGIQUES
LA French
DT Article
DE Siblings; Intellectual disability; Depression; Rivalry; Feeling of
social integration
ID CIRCUMPLEX MODEL; FAMILY SYSTEMS; CHILDREN; SIBLINGS; ADJUSTMENT;
DISORDERS; AUTISM; IMPACT
AB Introduction. - The present study aims to evaluate the influence of intellectual deficiency on the lifestyle of brothers and sisters.
Objective. - The objective is to determine whether or not a child's intellectual deficiency has an influence on the nature of the fraternal relationship. We studied the functionality of the familial typology, the feeling of social integration, and the degree of depression in brothers and sisters of children with intellectual disability.
Method. - This research was carried out with 34 brothers and sisters of children faced with intellectual disabilities, aged between 6 and 12 years old, and the results were compared with those collected from a test group of 24 children.
Results. - The comparative study shows little differences between siblings and families confronted to intellectual disability and those who are not. The nature of the fraternal relationships differ however as the modality of proximity and conflicts are less expressed by siblings of children faced with intellectual disabilities. Furthermore the correlational study stresses the importance of siblings' rivalry, the feeling of social integration, and the degree of depression.
Conclusion. - With these results now uncover risk and protection factors to children confronted to intellectual disabilities among their siblings (C) 2013 Societe francaise de psychologie. Published by Elsevier Masson SAS. All rights reserved.
C1 [Griot, M.; Poussin, M.; Osiurak, F.] Univ Lyon 2, Inst Psychol, Lab Sante Individu Soc, EA 4129, F-69676 Bron, France.
RP Griot, M (reprint author), Univ Lyon 2, Inst Psychol, Lab Sante Individu Soc, EA 4129, 5 Rue Pierre Mendes France, F-69676 Bron, France.
EM mariongriot@hotmail.com
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NR 57
TC 0
Z9 0
PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
PI PARIS
PA 23 RUE LINOIS, 75724 PARIS, FRANCE
SN 1269-1763
J9 PRAT PSYCHOL
JI Prat. Psychol.
PD DEC
PY 2013
VL 19
IS 4
BP 245
EP 263
DI 10.1016/j.prps.2013.09.001
PG 19
WC Psychology; Psychology, Multidisciplinary
SC Psychology
GA 259PR
UT WOS:000327539300004
ER
PT J
AU Hsu, YC
Chien, IC
Tan, HKL
Lin, CH
Cheng, SW
Chou, YJ
Chou, P
AF Hsu, Yuan-Chang
Chien, I-Chia
Tan, Happy Kuy-Lok
Lin, Ching-Heng
Cheng, Shu-Wen
Chou, Yiing-Jenq
Chou, Pesus
TI Trends, correlates, and disease patterns of antipsychotic use among
children and adolescents in Taiwan
SO SOCIAL PSYCHIATRY AND PSYCHIATRIC EPIDEMIOLOGY
LA English
DT Article
DE Antipsychotic; Children and adolescents; Prevalence; Disease pattern;
Taiwan
ID ATYPICAL ANTIPSYCHOTICS; 2ND-GENERATION ANTIPSYCHOTICS;
PSYCHIATRIC-DISORDERS; DISRUPTIVE BEHAVIOR; PRESCRIBING TRENDS;
MENTAL-RETARDATION; POPULATION; PREVALENCE; MEDICATIONS;
PSYCHOPHARMACOLOGY
AB We used Taiwan's population-based National Health Insurance database to investigate the trends, correlates, and disease patterns of antipsychotic use among children and adolescents.
The National Health Research Institutes provided a database of 1,000,000 random subjects for study. We chose subjects who were aged 18 years or younger during 1997-2005. In this sample, subjects who were given at least one antipsychotic prescription, including first-generation antipsychotics (FGAs) or second-generation antipsychotics (SGAs), were identified. Trends, prevalence, and associated factors of antipsychotic use were determined. The proportion of antipsychotic use for psychiatric and medical disorders was also analyzed.
The 1-year prevalence of SGA use increased from 0.00 % in 1997 to 0.09 % in 2005, whereas the 1-year prevalence of FGA use ranged from 2.24 to 3.43 % during this same period, with no significant change. Age and male gender were associated with higher SGA use. Among SGA users, the greatest proportion suffered from psychiatric disorders, including tics, hyperkinetic syndrome of childhood, schizophrenia, affective disorders, and autism. Among FGA users, a larger proportion was for medical conditions, including diseases of the digestive and respiratory systems.
The prevalence of pediatric SGA use increased greatly from 1997 to 2005. Among pediatric subjects using antipsychotics, SGAs were mostly used for psychiatric disorders, whereas FGAs were mostly prescribed for medical conditions. Future research will focus on indication, dosage, frequency, duration, adverse effects, and off-label use of antipsychotics in the pediatric population.
C1 [Hsu, Yuan-Chang; Chien, I-Chia; Tan, Happy Kuy-Lok; Cheng, Shu-Wen] Taoyuan Mental Hosp, Dept Hlth, Tao Yuan 33058, Taiwan.
[Chien, I-Chia; Chou, Yiing-Jenq; Chou, Pesus] Natl Yang Ming Univ, Dept Publ Hlth, Taipei 112, Taiwan.
[Chien, I-Chia; Chou, Yiing-Jenq; Chou, Pesus] Natl Yang Ming Univ, Inst Publ Hlth, Taipei 112, Taiwan.
[Lin, Ching-Heng] Taichung Vet Gen Hosp, Taichung, Taiwan.
[Chou, Pesus] Natl Yang Ming Univ, Community Med Res Ctr, Taipei 112, Taiwan.
RP Chien, IC (reprint author), Taoyuan Mental Hosp, Dept Hlth, 71 Longshow St, Tao Yuan 33058, Taiwan.
EM lewis777@ms26.hinet.net; icchien@typc.doh.gov.tw
FU Department of Health
FX We thank the Department of Health for funding support and the National
Health Research Institute for supplying the data.
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NR 41
TC 1
Z9 1
PU SPRINGER HEIDELBERG
PI HEIDELBERG
PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY
SN 0933-7954
EI 1433-9285
J9 SOC PSYCH PSYCH EPID
JI Soc. Psychiatry Psychiatr. Epidemiol.
PD DEC
PY 2013
VL 48
IS 12
BP 1889
EP 1896
DI 10.1007/s00127-013-0702-2
PG 8
WC Psychiatry
SC Psychiatry
GA 254AP
UT WOS:000327132600003
PM 23653092
ER
PT J
AU Miller, DL
Zhou, WB
AF Miller, Douglas L.
Zhou, Weibin
TI A System for Investigation of Biological Effects of Diagnostic
Ultrasound on Development of Zebrafish Embryos
SO ZEBRAFISH
LA English
DT Article
ID 1ST-TRIMESTER ULTRASOUND; LATERAL-LINE; MIGRATION; NEURONS; MODEL;
TRIMESTER; AUTISM; 1ST
AB A system for scanning zebrafish embryos with diagnostic ultrasound was developed for research into possible biological effects during development. Two troughs for holding embryos were formed from agarose in a rectangular dish and separated by an ultrasound absorber. A 4.9MHz linear array ultrasound probe was positioned to uniformly scan all the embryos at the bottom of one trough, with the other used for controls. Zebrafish embryos were scanned continuously from 10-24h post fertilization (hpf) during the segmentation period and gross morphological parameters were measured at 30hpf, including viability, length, number of visible axons, and the progression of the lateral line primordium (LLP). Our initial tests were encumbered by the thermal effects of probe self-heating, which resulted in accelerated development of the zebrafish embryos. After subsequent optimization, our test revealed a significant retardation of primary motor axons and the migration of the LLP in embryos scanned with ultrasound, which indicated a potential for nonthermal effects on neuronal development. This diagnostic ultrasound exposure system is suitable for further investigation of possible subtle bioeffects, such as perturbation of neuronal migration.
C1 [Miller, Douglas L.] Univ Michigan Hlth Syst, Dept Radiol, Ann Arbor, MI 48109 USA.
[Zhou, Weibin] Univ Michigan Hlth Syst, Dept Pediat & Communicable Dis, Ann Arbor, MI 48109 USA.
RP Miller, DL (reprint author), Univ Michigan Hlth Syst, Dept Radiol, 3240A Med Sci Bldg 1,1301 Catherine St, Ann Arbor, MI 48109 USA.
EM douglm@umich.edu
FU Department of Radiology; Office of the Vice President for Research,
University of Michigan, Ann Arbor, MI; National Institutes of Health
[DK091405]
FX This study was supported by the Department of Radiology, and the Office
of the Vice President for Research, University of Michigan, Ann Arbor,
MI. W.Z. is a Carl W. Gottschalk Research Scholar of American Society of
Nephrology and is supported by National Institutes of Health grant
DK091405.
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NR 32
TC 0
Z9 0
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1545-8547
EI 1557-8542
J9 ZEBRAFISH
JI Zebrafish
PD DEC 1
PY 2013
VL 10
IS 4
BP 459
EP 465
DI 10.1089/zeb.2013.0883
PG 7
WC Developmental Biology; Zoology
SC Developmental Biology; Zoology
GA 255DH
UT WOS:000327219100002
PM 23848997
ER
PT J
AU Garnett, MS
Attwood, T
Peterson, C
Kelly, AB
AF Garnett, Michelle S.
Attwood, Tony
Peterson, Candida
Kelly, Adrian B.
TI Autism spectrum conditions among children and adolescents: A new
profiling tool
SO AUSTRALIAN JOURNAL OF PSYCHOLOGY
LA English
DT Article
DE Asperger's syndrome; autism spectrum conditions; psychometric
validation; symptom profile; symptomatology
ID SCHOOL-AGE-CHILDREN; ASPERGER-SYNDROME; DISORDER; QUESTIONNAIRE;
HETEROGENEITY; FEATURES; CAST
AB There is considerable debate about the sociocognitive features of autism spectrum conditions (ASC), and a tool for profiling the sociocognitive profiles of children and adolescents with ASC is needed. The aim of this research was to evaluate the psychometric properties of a new questionnaireThe Australian Scale for Autism Spectrum Conditions (ASASC). Three hundred twenty-two parents of children on the ASC spectrum, including autistic disorder (n=76), Asperger's disorder (n=188), and pervasive developmental disorder not otherwise specified (n=21), and a clinical group of children with subclinical ASC features and no ASC diagnosis (n=37). Measures include an initial scale measuring eight potential dimensions of ASC, a related screening tool for autism, and two previously validated social skills questionnaires. The questionnaires were administered online. The ASASC was factor-analysed, internal and test-retest reliabilities (for a randomly selected 84 parents) were calculated, and preliminary tests of convergent and divergent validity were conducted. The resulting measure (44 items) contained five coherent and reliable dimensions: understand and express emotion, fact orientation, sensory sensitivity, social communication, and rigidity. The questionnaire had good test-retest reliability and convergent/divergent validity. The ASASC enables profiles of ASC symptomatology that should be useful in adjusting interventions to individual needs.
C1 [Garnett, Michelle S.; Attwood, Tony] Univ Queensland, Minds & Hearts Clin, Brisbane, Qld, Australia.
[Attwood, Tony; Peterson, Candida] Univ Queensland, Sch Psychol, Brisbane, Qld, Australia.
[Kelly, Adrian B.] Univ Queensland, Ctr Youth Subst Abuse Res, Brisbane, Qld, Australia.
RP Garnett, MS (reprint author), Minds & Hearts Clin, Suite 6,Level 1,88 Boundary St, Brisbane, Qld 4101, Australia.
EM michelleg@mindsandhearts.net
RI Kelly, Adrian/G-4531-2011
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American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 45
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0004-9530
EI 1742-9536
J9 AUST J PSYCHOL
JI Aust. J. Psychol.
PD DEC
PY 2013
VL 65
IS 4
BP 206
EP 213
DI 10.1111/ajpy.12022
PG 8
WC Psychology, Multidisciplinary
SC Psychology
GA 251VP
UT WOS:000326959800003
ER
PT J
AU Yook, C
Druckmann, S
Kim, J
AF Yook, Chaehyun
Druckmann, Shaul
Kim, Jinhyun
TI Mapping mammalian synaptic connectivity
SO CELLULAR AND MOLECULAR LIFE SCIENCES
LA English
DT Review
DE Synaptic connectivity; Brainbow; Array tomography; mGRASP;
Trans-synaptic tracer; Neurological disorders
ID STRUCTURED-ILLUMINATION MICROSCOPY; DE-NOVO MUTATIONS; AUTISM SPECTRUM
DISORDERS; CENTRAL-NERVOUS-SYSTEM; COPY NUMBER VARIATION; RABIES VIRUS;
TRANSNEURONAL TRACER; BRAIN CONNECTIVITY; NEURONAL NETWORKS; PYRAMIDAL
NEURONS
AB Mapping mammalian synaptic connectivity has long been an important goal of neuroscientists since it is considered crucial for explaining human perception and behavior. Yet, despite enormous efforts, the overwhelming complexity of the neural circuitry and the lack of appropriate techniques to unravel it have limited the success of efforts to map connectivity. However, recent technological advances designed to overcome the limitations of conventional methods for connectivity mapping may bring about a turning point. Here, we address the promises and pitfalls of these new mapping technologies.
C1 [Yook, Chaehyun; Kim, Jinhyun] Korea Inst Sci & Technol, Ctr Funct Connect, Seoul 136791, South Korea.
[Yook, Chaehyun] Korea Adv Inst Sci & Technol, Dept Biol Sci, Taejon 305701, South Korea.
RP Kim, J (reprint author), Korea Inst Sci & Technol, Ctr Funct Connect, L7-7205,39-1 Hawolgokdong, Seoul 136791, South Korea.
EM kimj@kist.re.kr
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NR 84
TC 3
Z9 3
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 DEC
PY 2013
VL 70
IS 24
BP 4747
EP 4757
DI 10.1007/s00018-013-1417-y
PG 11
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA 253NO
UT WOS:000327095100008
PM 23864031
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PT J
AU Siew, K
O'Shaughnessy, KM
AF Siew, Keith
O'Shaughnessy, Kevin M.
TI Extrarenal roles of the with-no-lysine[K] kinases (WNKs)
SO CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY
LA English
DT Article
DE calcium; chloride; Gordon syndrome; homeostasis; potassium; sodium;
solute carrier family 12 A; sterile 20 kinase (STE20); thiazide;
with-no-lysine[K] kinase (WNK)
ID SODIUM-CHLORIDE COTRANSPORTER; BONE-MINERAL DENSITY; RESORPTION
IN-VITRO; BLOOD-PRESSURE; THIAZIDE-DIURETICS; GITELMAN-SYNDROME;
FAMILIAL HYPERKALEMIA; NEUROPATHY TYPE-2; PROTEIN-KINASES; TUBULAR
DEFECT
AB Identified over a decade ago, the with-no-lysine[K] kinases (WNKs) have been the subsequent focus of intense research into the renal handling of Na+, Cl- and K+ and several rare monogenetic diseases. However, the potential extrarenal roles for WNKs have been less well explored. Thiazides and Gordon syndrome are known to have effects on bone mineral density, Ca2+ and PO43- homeostasis, which were originally assumed to be an indirect effect through the kidney. However, current data suggest a complex and direct role for WNKs in the physiology of bone. The WNKs also modulate systemic blood pressure at several levels, including the vascular resistance vessels, where they cause vasoconstriction by altering the abundance of the transient receptor potential canonical channel 3 and/or phosphorylation of the Na+-K+-2Cl(-) cotransporter 1 in vascular smooth muscle cells. The WNKs and many of the cation-coupled Cl- cotransporters they regulate are highly expressed in the central nervous system and recent work suggests that WNK dysfunction may have a role in the development of autism, schizophrenia and hereditary sensory and autonomic neuropathy Type 2. Finally, the WNK-sterile 20 kinase signalling axis represents an evolutionarily ancient mechanism for maintaining osmotic homeostasis, but a rapidly expanding body of evidence also shows a role in immunity and cellular regulation.
C1 [Siew, Keith; O'Shaughnessy, Kevin M.] Univ Cambridge, Dept Med, Clin Pharmacol Unit, Cambridge CB2 2QQ, England.
RP Siew, K (reprint author), Addenbrookes Hosp, Clin Pharmacol Unit, Box 110, Cambridge CB2 2QQ, England.
EM ks611@medschl.cam.ac.uk
FU British Heart Foundation [FS-11-8-28689]
FX KS holds a British Heart Foundation PhD studentship (FS-11-8-28689).
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NR 84
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1440-1681
J9 CLIN EXP PHARMACOL P
JI Clin. Exp. Pharmacol. Physiol.
PD DEC
PY 2013
VL 40
IS 12
BP 885
EP 894
DI 10.1111/1440-1681.12108
PG 10
WC Pharmacology & Pharmacy; Physiology
SC Pharmacology & Pharmacy; Physiology
GA 254HY
UT WOS:000327157000007
PM 23662678
ER
PT J
AU Zucker, SH
Perras, C
Perner, DE
Murdick, N
AF Zucker, Stanley H.
Perras, Cindy
Perner, Darlene E.
Murdick, Nikki
TI Best Practices for Practitioners in Autism, Intellectual Disability, and
Developmental Disabilities
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Editorial Material
C1 [Zucker, Stanley H.] Arizona State Univ, Tempe, AZ 85287 USA.
[Perner, Darlene E.] Bloomsburg Univ Penn, Bloomsburg, PA 17815 USA.
[Murdick, Nikki] St Louis Univ, St Louis, MO 63103 USA.
RP Zucker, SH (reprint author), Arizona State Univ, Special Educ Program, Mary Lou Fulton Teachers Coll, Box 871811, Tempe, AZ 85287 USA.
EM etadd@asu.edu
NR 0
TC 0
Z9 0
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD DEC
PY 2013
VL 48
IS 4
SI SI
BP 439
EP 442
PG 4
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 250IU
UT WOS:000326847200001
ER
PT J
AU West, EA
McCollow, M
Umbarger, G
Kidwell, J
Cote, DL
AF West, Elizabeth A.
McCollow, Meaghan
Umbarger, Gardner
Kidwell, James
Cote, Debra L.
TI Current Status of Evidence-Based Practice for Students with Intellectual
Disability and Autism Spectrum Disorders
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
ID SPECIAL-EDUCATION; IMPLEMENTATION SCIENCE; QUALITY
AB The purpose of this paper is to provide a current look at the status of evidence-based practice (EBP) for students with intellectual disability and autism spectrum disorders. Specifically, this paper will (1) provide an introduction to the history and evolution of the use of levels of evidence, (2) discuss the importance of EBPs, (3) identify who's doing the work and how they determine evidence, and (4) suggest a decision-making model for teachers to select and apply EBPs. This process holds the ultimate goal of improving outcomes for students with intellectual disability and autism spectrum disorders as appropriate EBPs are selected and applied with fidelity. Concerns around implementation highlight the need to examine factors related to the knowledge of and adoption of effective practices by educators, researchers and families.
C1 [West, Elizabeth A.; McCollow, Meaghan; Kidwell, James] Univ Washington, Seattle, WA 98195 USA.
[Umbarger, Gardner] Saginaw Valley State Univ, University Ctr, MI 48710 USA.
[Cote, Debra L.] Calif State Univ Fullerton, Fullerton, CA 92634 USA.
RP West, EA (reprint author), Univ Washington, Coll Educ, Area Special Educ, 102 H Miller,Box 353600, Seattle, WA 98195 USA.
EM eawest@uw.edu
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NR 43
TC 1
Z9 1
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD DEC
PY 2013
VL 48
IS 4
SI SI
BP 443
EP 455
PG 13
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 250IU
UT WOS:000326847200002
ER
PT J
AU Lauderdale-Littin, S
Howell, E
Blacher, J
AF Lauderdale-Littin, Stacy
Howell, Erica
Blacher, Jan
TI Educational Placement for Children with Autism Spectrum Disorders in
Public and Non-Public School Settings: The Impact of Social Skills and
Behavior Problems
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
ID PROGRAMS; STUDENTS
AB This study examined relationships among behavior problems, social skills, and educational placement within a sample of children with autism spectrum disorder or ASD in public (mean age 7) and non-public (mean age 8) school settings (n = 56). Parent and teacher agreement on child characteristics ratings tended to be similar while differences between parent ratings of students in public and non-public school settings found more behavior problems and poorer social skills for students in non-public school placements compared to public school settings. Furthermore, logistic regression analyses indicated that child age, family income, and social skills were predictive of educational placement, with overall prediction success at 87.5%. Current eligibility and diagnosis of ASD, in both clinical and educational settings, is also discussed.
C1 [Lauderdale-Littin, Stacy] Monmouth Univ, Long Branch, NJ 07764 USA.
[Howell, Erica] Calif State Univ Fullerton, Fullerton, CA 92834 USA.
[Blacher, Jan] Univ Calif Riverside, Riverside, CA 92521 USA.
RP Howell, E (reprint author), Calif State Univ Fullerton, Coll Educ, Dept Special Educ, CP 570-25,POB 6868, Fullerton, CA 92834 USA.
EM ehowell@fullerton.edu
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NR 24
TC 0
Z9 0
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD DEC
PY 2013
VL 48
IS 4
SI SI
BP 469
EP 478
PG 10
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 250IU
UT WOS:000326847200004
ER
PT J
AU Jimenez, BA
Kemmery, M
AF Jimenez, Bree A.
Kemmery, Megan
TI Building the Early Numeracy Skills of Students with Moderate
Intellectual Disability
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
ID SEVERE DEVELOPMENTAL-DISABILITIES; SINGLE-SUBJECT RESEARCH; ACHIEVEMENT
STANDARDS; INSTRUCTION
AB This study investigated the effects of an early numeracy intervention package on early numeracy skill attainment for participants with moderate intellectual disabilities, including autism. The intervention taught students to use nonstandard and standard measurement, counting skills, calendar skills, how to create sets, and how to identify and work with patterns. A single-subject design across three classrooms was employed to evaluate the intervention package. Specifically, three special education teachers used engaging story-based math lessons with embedded systematic instruction to promote the early math concept acquisition of five students with intellectual disability. Results found that all students showed a significant increase in early numeracy skill acquisition after receiving the intervention package. The study's contributions to research, limitations, need for future research, and implications for practice are discussed.
C1 [Jimenez, Bree A.; Kemmery, Megan] Univ N Carolina, Greensboro, NC 27402 USA.
RP Jimenez, BA (reprint author), Univ N Carolina, 421 Sch Educ Bldg,POB 26170, Greensboro, NC 27402 USA.
EM bajimene@uncg.edu
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NR 21
TC 1
Z9 1
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD DEC
PY 2013
VL 48
IS 4
SI SI
BP 479
EP 490
PG 12
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 250IU
UT WOS:000326847200005
ER
PT J
AU Stodden, RA
Yamamoto, KK
Folk, E
Kong, E
Otsuji, DN
AF Stodden, Robert A.
Yamamoto, Kathryn K.
Folk, Eric
Kong, Eran
Otsuji, Derek N.
TI Pursuing Quality Evidence: Applying Single-Subject Quality Indicators to
Non-experimental Qualitative Educational Research
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
ID AUTISM
AB The need for quality evidence in support of strategies used while working with persons with autism and intellectual disability (ID) has been long been recognized by researchers and practitioners. The authors reviewed and applied a number of evidence-based indicators, developed through the "What Works Clearinghouse" (WWC), to the conduct of a retrospective case study of a college instructor's experiences teaching college students with ID. The indicators were applied with the intent of elevating the potential of qualitative research findings to be replicated in similar contexts by other researchers and practitioners. Findings indicated the potential value of single-case studies aligned with quality evidence indicators as a useful technique to expand the evidence-base of disability-related strategies and practices.
C1 [Stodden, Robert A.; Yamamoto, Kathryn K.; Folk, Eric; Kong, Eran] Univ Hawaii Manoa, Honolulu, HI 96822 USA.
[Otsuji, Derek N.] Honolulu Community Coll, Honolulu, HI 96817 USA.
RP Stodden, RA (reprint author), Univ Hawaii Manoa, Ctr Disabil Studies, 1410 Lower Campus Rd,171F, Honolulu, HI 96822 USA.
EM stodden@hawaii.edu
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Odom SL, 2005, EXCEPT CHILDREN, V71, P137
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Yin R. K., 2003, CASE STUDIES RES DES
NR 31
TC 0
Z9 0
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD DEC
PY 2013
VL 48
IS 4
SI SI
BP 491
EP 503
PG 13
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 250IU
UT WOS:000326847200006
ER
PT J
AU Hart, JE
More, CM
AF Hart, Juliet E.
More, Cori M.
TI Investigating the Impact of Technology on Pre-Service Teacher Knowledge
of Autism Spectrum Disorder
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
ID PRINCIPLES; DESIGN
AB A rapidly growing developmental disability, autism spectrum disorder (ASD) affects 1 in 88 children. Although highly probable that both general and special educators will encounter ASD students, most teacher graduates receive minimal preparation in evidence-based practices for this population. The purpose of this study was to evaluate a technology-driven intervention designed to address the current time and content constraints of teacher preparation programs in ASD. Using a quantitative, two-group posttest design, two randomly assigned groups of undergraduate teacher education candidates interacted with either a narrated PowerPoint enhanced with text and pictures synced to audio or the same information in text-only format to determine the impact of instructional delivery type on knowledge of ASD. Participants in the enhanced narrated PowerPoint group outperformed their read-only counterparts on knowledge of ASD. Implications for utilizing this technology for teacher education programming to meet the needs of students with ASD will be described.
C1 [Hart, Juliet E.] Arizona State Univ, Phoenix, AZ 85069 USA.
[More, Cori M.] Univ Nevada, Las Vegas, NV 89154 USA.
RP Hart, JE (reprint author), Arizona State Univ, Mary Lou Fulton Teachers Coll, POB 37100,Mail Code 3151, Phoenix, AZ 85069 USA.
EM Juliet.Hart@asu.edu
CR Center for Disease Control and Prevention, 2011, MMWR SURVEILLANCE SU, V60, P365
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National Research Council, 2001, ED CHILDR AUT
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United States Department of Education, 2009, 28 US DEP ED
Whitbread K., 2009, CURRENT ISSUES ED, V12
NR 28
TC 2
Z9 2
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD DEC
PY 2013
VL 48
IS 4
SI SI
BP 504
EP 513
PG 10
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 250IU
UT WOS:000326847200007
ER
PT J
AU Brenna, B
AF Brenna, Beverley
TI Mindful Portrayals: Using Fiction to Create Awareness, Understanding,
and Support for People with Autism and Developmental Disabilities
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
ID NOVELS
AB Considering the arts model as a tool for promoting awareness, understanding, and support for people with autism and developmental disabilities, this paper discusses stories as a measure of societal thinking as well as a vehicle for societal change. The author's dual perspectives are shared as a researcher of books for children and young adults, as well as an award-winning writer of books for young people. Data from an ongoing qualitative study related to award-winning North American picture books for young people offer understandings of current patterns and trends regarding portrayals of characters who are differently abled, and this article has wide implications for teaching, learning and further research.
C1 [Brenna, Beverley] Univ Saskatchewan, Saskatoon, SK, Canada.
RP Brenna, B (reprint author), Univ Saskatchewan, Coll Educ, 3121 28 Campus Dr, Saskatoon, SK, Canada.
EM bev.brenna@usask.ca
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Galda L., 1998, LIT BASED INSTRUCTIO, P1
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Irwin M., 2010, SCH LIB RES, V13
Jaegers P, 2005, UNDERSTANDING DISABI
Kalke-Klita T., 2005, LANGUAGE LIT, P7
Keith L, 2001, TAKE THY BED WALK DE
Landrum J, 2001, READ TEACH, V55, P252
Matthew N., 2007, INT J EARLY CHILDHOO, V39, P65
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NR 28
TC 0
Z9 0
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD DEC
PY 2013
VL 48
IS 4
SI SI
BP 514
EP 521
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 250IU
UT WOS:000326847200008
ER
PT J
AU Jolly, LA
Homan, CC
Jacob, R
Barry, S
Gecz, J
AF Jolly, Lachlan A.
Homan, Claire C.
Jacob, Reuben
Barry, Simon
Gecz, Jozef
TI The UPF3B gene, implicated in intellectual disability, autism, ADHD and
childhood onset schizophrenia regulates neural progenitor cell behaviour
and neuronal outgrowth
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID MESSENGER-RNA DECAY; EXON-JUNCTION COMPLEX; STEM-CELL; MAMMALIAN
TRANSCRIPTS; ASSOCIATION ANALYSIS; DIVERSE CLASSES; NERVOUS-SYSTEM; AXON
GUIDANCE; NRCAM GENE; EXPRESSION
AB Loss-of-function mutations in UPF3B result in variable clinical presentations including intellectual disability (ID, syndromic and non-syndromic), autism, childhood onset schizophrenia and attention deficit hyperactivity disorder. UPF3B is a core member of the nonsense-mediated mRNA decay (NMD) pathway that functions to rapidly degrade transcripts with premature termination codons (PTCs). Traditionally identified in thousands of human diseases, PTCs were recently also found to be part of 'normal' genetic variation in human populations. Furthermore, many human transcripts have naturally occurring regulatory features compatible with 'endogenous' PTCs strongly suggesting roles of NMD beyond PTC mRNA control. In this study, we investigated the role of Upf3b and NMD in neural cells. We provide evidence that suggests Upf3b-dependent NMD(Upf3b-NMD) is regulated at multiple levels during development including regulation of expression and sub-cellular localization of Upf3b. Furthermore, complementary expression of Upf3b, Upf3a and Stau1 stratify the developing dorsal telencephalon, suggesting that alternative NMD, and the related Staufen1-mediated mRNA decay (SMD) pathways are differentially employed. A loss of Upf3b-NMD in neural progenitor cells (NPCs) resulted in the expansion of cell numbers at the expense of their differentiation. In primary hippocampal neurons, loss of Upf3b-NMD resulted in subtle neurite growth effects. Our data suggest that the cellular consequences of loss of Upf3b-NMD can be explained in-part by changes in expression of key NMD-feature containing transcripts, which are commonly deregulated also in patients with UPF3B mutations. Our research identifies novel pathological mechanisms of UPF3B mutations and at least partly explains the clinical phenotype of UPF3B patients.
C1 [Jolly, Lachlan A.; Homan, Claire C.; Gecz, Jozef] SA Pathol, Dept Genet & Mol Pathol, Adelaide, SA 5006, Australia.
[Jolly, Lachlan A.; Barry, Simon; Gecz, Jozef] Univ Adelaide, Sch Paediat & Reprod Hlth, Adelaide, SA 5000, Australia.
[Homan, Claire C.; Jacob, Reuben; Gecz, Jozef] Univ Adelaide, Sch Mol & Biomed Sci, Adelaide, SA 5000, Australia.
RP Gecz, J (reprint author), Womens & Childrens Hosp, SA Pathol, Dept Genet & Mol Pathol, Adelaide, SA 5006, Australia.
EM jozef.gecz@adelaide.edu.au
RI Jolly, Lachlan/B-5892-2015
OI Jolly, Lachlan/0000-0003-4538-2658
FU Australian NHMRC [453457]; Women's and Children's Hospital Foundation;
NH&MRC Principal Research Fellowship [1041920]
FX This work was supported by the Australian NH&MRC (Project Grant 453457
to J.G.) and the Women's and Children's Hospital Foundation (Grant to
L.J.). J.G. is supported by NH&MRC Principal Research Fellowship
(1041920).
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NR 70
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 DEC 1
PY 2013
VL 22
IS 23
BP 4673
EP 4687
DI 10.1093/hmg/ddt315
PG 15
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 251ZD
UT WOS:000326973000002
PM 23821644
ER
PT J
AU Chandler, S
Carcani-Rathwell, I
Charman, T
Pickles, A
Loucas, T
Meldrum, D
Simonoff, E
Sullivan, P
Baird, G
AF Chandler, Susie
Carcani-Rathwell, Iris
Charman, Tony
Pickles, Andrew
Loucas, Tom
Meldrum, David
Simonoff, Emily
Sullivan, Peter
Baird, Gillian
TI Parent-Reported Gastro-intestinal Symptoms in Children with Autism
Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Autism spectrum disorders; Gastro-intestinal symptoms; Dietary
intake; Regression
ID PERVASIVE DEVELOPMENTAL DISORDERS; POPULATION; PREVALENCE; INDIVIDUALS;
REGRESSION; MEASLES; MUMPS; CONSTIPATION; ASSOCIATION; DYSFUNCTION
AB The objective of this study is to investigate whether parentally-reported gastro-intestinal (GI) symptoms are increased in a population-derived sample of children with autism spectrum disorders (ASD) compared to controls. Participants included 132 children with ASD and 81 with special educational needs (SEN) but no ASD, aged 10-14 years plus 82 typically developing (TD) children. Data were collected on GI symptoms, diet, cognitive abilities, and developmental histories. Nearly half (weighted rate 46.5 %) of children with ASD had at least one individual lifetime GI symptom compared with 21.8 % of TD children and 29.2 % of those with SEN. Children with ASD had more past and current GI symptoms than TD or SEN groups although fewer current symptoms were reported in all groups compared with the past. The ASD group had significantly increased past vomiting and diarrhoea compared with the TD group and more abdominal pain than the SEN group. The ASD group had more current constipation (when defined as bowel movement less than three times per week) and soiling than either the TD or SEN groups. No association was found between GI symptoms and intellectual ability, ASD severity, ASD regression or limited or faddy diet. Parents report more GI symptoms in children with ASD than children with either SEN or TD children but the frequency of reported symptoms is greater in the past than currently in all groups.
C1 [Chandler, Susie; Baird, Gillian] Guys & St Thomas NHS Fdn Trust, Childrens Neurosci Dept, Newcomen Child Dev Ctr, St Thomas Hosp, London SE1 7EH, England.
[Carcani-Rathwell, Iris] South London & Maudsley NHS Fdn Trust, London, England.
[Charman, Tony; Pickles, Andrew; Simonoff, Emily] Kings Coll London, Inst Psychiat, London, England.
[Loucas, Tom] Univ Reading, Sch Psychol & Clin Language Sci, Reading, Berks, England.
[Meldrum, David] Chatswood Assessment Ctr, Sydney, NSW, Australia.
[Sullivan, Peter] Univ Oxford, Dept Paediat, Oxford Childrens Hosp, Oxford, England.
RP Baird, G (reprint author), Guys & St Thomas NHS Fdn Trust, Childrens Neurosci Dept, Newcomen Child Dev Ctr, St Thomas Hosp, Westminster Bridge Rd, London SE1 7EH, England.
EM gillian.baird@gstt.nhs.uk
RI Charman, Tony/A-2085-2014; Pickles, Andrew/A-9625-2011
OI Charman, Tony/0000-0003-1993-6549; Pickles, Andrew/0000-0003-1283-0346
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NR 45
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 DEC
PY 2013
VL 43
IS 12
BP 2737
EP 2747
DI 10.1007/s10803-013-1768-0
PG 11
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200001
PM 23371507
ER
PT J
AU Ruble, L
McGrew, JH
AF Ruble, Lisa
McGrew, John H.
TI Teacher and Child Predictors of Achieving IEP Goals of Children with
Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Treatment predictors; Teacher consultation; Goal attainment
scaling; COMPASS; Implementation science
ID PERVASIVE DEVELOPMENTAL DISORDER; INTENSIVE BEHAVIORAL TREATMENT;
YOUNG-CHILDREN; SPECTRUM DISORDERS; EARLY INTERVENTION;
CONTROLLED-TRIAL; PROGRAM; OUTCOMES; STRESS
AB It is encouraging that children with autism show a strong response to early intervention, yet more research is needed for understanding the variability in responsiveness to specialized programs. Treatment predictor variables from 47 teachers and children who were randomized to receive the COMPASS intervention (Ruble et al. in The collaborative model for promoting competence and success for students with ASD. Springer, New York, 2012a) were analyzed. Predictors evaluated against child IEP goal attainment included child, teacher, intervention practice, and implementation practice variables based on an implementation science framework (Dunst and Trivette in J Soc Sci 8:143-148, 2012). Findings revealed one child (engagement), one teacher (exhaustion), two intervention quality (IEP quality for targeted and not targeted elements), and no implementation quality variables accounted for variance in child outcomes when analyzed separately. When the four significant variables were compared against each other in a single regression analysis, IEP quality accounted for one quarter of the variance in child outcomes.
C1 [Ruble, Lisa] Univ Kentucky, Dept Educ Sch & Counseling Psychol, Lexington, KY 40506 USA.
[McGrew, John H.] Indiana Univ Purdue Univ, Dept Psychol, Indianapolis, IN 46205 USA.
RP Ruble, L (reprint author), Univ Kentucky, Dept Educ Sch & Counseling Psychol, 237 Dickey Hall, Lexington, KY 40506 USA.
EM Lisa.ruble@gmail.com
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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 DEC
PY 2013
VL 43
IS 12
BP 2748
EP 2763
DI 10.1007/s10803-013-1884-x
PG 16
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200002
PM 23838728
ER
PT J
AU Oerlemans, AM
Droste, K
van Steijn, DJ
de Sonneville, LMJ
Buitelaar, JK
Rommelse, NNJ
AF Oerlemans, Anoek M.
Droste, Katharina
van Steijn, Daphne J.
de Sonneville, Leo M. J.
Buitelaar, Jan K.
Rommelse, Nanda N. J.
TI Co-segregation of Social Cognition, Executive Function and Local
Processing Style in Children with ASD, their Siblings and Normal
Controls
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism Spectrum Disorder; Social cognition; Executive function; Local
processing style; Familial segregation
ID AUTISM SPECTRUM DISORDERS; WEAK CENTRAL COHERENCE;
INDIVIDUAL-DIFFERENCES; INHIBITORY CONTROL; MULTIPLE-INCIDENCE; MIND;
PARENTS; PHENOTYPE; ATTENTION; DEFICITS
AB Cognitive research proposes that social cognition (SC), executive functions (EF) and local processing style (weak CC) may be fruitful areas for research into the familial-genetic underpinnings of Autism Spectrum Disorders (ASD). The performance of 140 children with ASD, 172 siblings and 127 controls on tasks measuring SC (face recognition, affective prosody, and facial emotion recognition), EF (inhibition, cognitive flexibility, and verbal working memory) and local processing style was assessed. Compelling evidence was found for the interrelatedness of SC and EF, but not local processing style, within individuals and within families, suggesting that these domains tend to co-segregate in ASD. Using the underlying shared variance of these constructs in genetic research may increase the power for detecting susceptibility genes for ASD.
C1 [Oerlemans, Anoek M.; Droste, Katharina; Rommelse, Nanda N. J.] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Psychiat, Med Ctr, NL-6525 ED Nijmegen, Netherlands.
[Oerlemans, Anoek M.; van Steijn, Daphne J.; Buitelaar, Jan K.; Rommelse, Nanda N. J.] Child & Adolescent Psychiat Univ Ctr Nijmegen, NL-6525 GC Nijmegen, Netherlands.
[de Sonneville, Leo M. J.] Leiden Univ, Dept Clin Child & Adolescent Studies, Leiden Inst Brain & Cognit, Leiden, Netherlands.
[Buitelaar, Jan K.] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Cognit Neurosci, NL-6525 ED Nijmegen, Netherlands.
RP Oerlemans, AM (reprint author), Child & Adolescent Psychiat Univ Ctr Nijmegen, Reinier Postlaan 12, NL-6525 GC Nijmegen, Netherlands.
EM am.oerlemans@psy.umcn.nl
RI Rommelse, Nanda/D-4872-2009
OI Rommelse, Nanda/0000-0002-1711-0359
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NR 66
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 DEC
PY 2013
VL 43
IS 12
BP 2764
EP 2778
DI 10.1007/s10803-013-1807-x
PG 15
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200003
PM 23532348
ER
PT J
AU Gillespie-Lynch, K
Elias, R
Escudero, P
Hutman, T
Johnson, SP
AF Gillespie-Lynch, K.
Elias, R.
Escudero, P.
Hutman, T.
Johnson, S. P.
TI Atypical Gaze Following in Autism: A Comparison of Three Potential
Mechanisms
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Response to joint attention; Autism; Reflexive gaze following; Word
learning
ID JOINT VISUAL-ATTENTION; HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; EYE
GAZE; FACIAL EXPRESSIONS; SPATIAL ATTENTION; YOUNG-CHILDREN; DIRECTION;
LANGUAGE; INFANTS
AB In order to evaluate the following potential mechanisms underlying atypical gaze following in autism, impaired reflexive gaze following, difficulty integrating gaze and affect, or reduced understanding of the referential significance of gaze, we administered three paradigms to young children with autism (N = 21) and chronological (N = 21) and nonverbal mental age (N = 21) matched controls. Children with autism exhibited impaired reflexive gaze following. The absence of evidence of integration of gaze and affect, regardless of diagnosis, indicates ineffective measurement of this construct. Reduced gaze following was apparent among children with autism during eye-tracking and in-person assessments. Word learning from gaze cues was better explained by developmental level than autism. Thus, gaze following may traverse an atypical, rather than just delayed, trajectory in autism.
C1 [Gillespie-Lynch, K.] CUNY Coll Staten Isl, Dept Psychol, Staten Isl, NY 10314 USA.
[Gillespie-Lynch, K.; Johnson, S. P.] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90024 USA.
[Elias, R.] Univ Calif Berkeley, Dept Psychol, Berkeley, CA 94720 USA.
[Escudero, P.] Univ Western Sydney, MARCS Inst, Sydney, NSW, Australia.
[Hutman, T.; Johnson, S. P.] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90024 USA.
RP Gillespie-Lynch, K (reprint author), CUNY Coll Staten Isl, Dept Psychol, Staten Isl, NY 10314 USA.
EM kgillyn@gmail.com
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NR 81
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 DEC
PY 2013
VL 43
IS 12
BP 2779
EP 2792
DI 10.1007/s10803-013-1818-7
PG 14
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200004
PM 23619947
ER
PT J
AU Stoit, AMB
van Schie, HT
Slaats-Willemse, DIE
Buitelaar, JK
AF Stoit, Astrid M. B.
van Schie, Hein T.
Slaats-Willemse, Dorine I. E.
Buitelaar, Jan K.
TI Grasping Motor Impairments in Autism: Not Action Planning but Movement
Execution is Deficient
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Motor deficit; Action chaining; Feedforward model; Action
planning; Movement execution
ID MIRROR NEURON SYSTEM; HIGH-FUNCTIONING AUTISM; SPECTRUM-DISORDERS;
CORTICAL ACTIVATION; SEMANTIC KNOWLEDGE; ASPERGERS-DISORDER; KINEMATIC
ANALYSIS; JOINT ACTION; IMITATION; CHILDREN
AB Different views on the origin of deficits in action chaining in autism spectrum disorders (ASD) have been posited, ranging from functional impairments in action planning to internal models supporting motor control. Thirty-one children and adolescents with ASD and twenty-nine matched controls participated in a two-choice reach-to-grasp paradigm wherein participants received cueing information indicating either the object location or the required manner of grasping. A similar advantage for location cueing over grip cueing was found in both groups. Both accuracy and reaction times of the ASD group were indistinguishable from the control group. In contrast, movement times of the ASD group were significantly delayed in comparison with controls. These findings suggest that movement execution rather than action planning is deficient in ASD, and that deficits in action chaining derive from impairments in internal action models supporting action execution.
C1 [Stoit, Astrid M. B.] Karakter Child & Adolescent Psychiat, NL-8004 DE Zwolle, Netherlands.
[van Schie, Hein T.] Radboud Univ Nijmegen, Inst Behav Sci, NL-6500 HE Nijmegen, Netherlands.
[Slaats-Willemse, Dorine I. E.; Buitelaar, Jan K.] Univ Ctr, Karakter Child & Adolescent Psychiat, NL-6525 GC Nijmegen, Netherlands.
[Buitelaar, Jan K.] Radboud Univ Nijmegen, Med Ctr, Dept Cognit Neurosci, Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, Netherlands.
RP van Schie, HT (reprint author), Radboud Univ Nijmegen, Inst Behav Sci, POB 9104, NL-6500 HE Nijmegen, Netherlands.
EM h.vanschie@psych.ru.nl
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NR 106
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 DEC
PY 2013
VL 43
IS 12
BP 2793
EP 2806
DI 10.1007/s10803-013-1825-8
PG 14
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200005
PM 23619948
ER
PT J
AU Lau, WYP
Kelly, AB
Peterson, CC
AF Lau, Winnie Yu Pow
Kelly, Adrian B.
Peterson, Candida Clifford
TI Further Evidence on the Factorial Structure of the Autism Spectrum
Quotient (AQ) for Adults With and Without a Clinical Diagnosis of Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism Spectrum Quotient; Factor analysis; Autism spectrum disorders;
Measure; Adult
ID PARALLEL ANALYSIS; ASPERGER SYNDROME; SAMPLE; RELIABILITY; POPULATION;
CHILDREN; NUMBER
AB The Autism Spectrum Quotient (AQ) has been widely used for measuring autistic traits however its factor structure has been primarily determined from nonclinic populations. This study aimed to establish an internally coherent and reliable factor structure for the AQ using a sample of 455 Australian adults of whom 141 had autism spectrum disorder (ASD) diagnoses. Principal component analysis revealed a 39-item questionnaire with five-factors: Sociability, Social Cognition, Interest in Patterns, Narrow Focus and Resistance to Change. The revised AQ-39 had sound goodness-of-fit indices, good-to-excellent internal consistency and test-retest reliability, and scores for ASD and non-ASD participants were significantly different. The AQ-39 may be useful in screening and for guiding the focus of therapy.
C1 [Lau, Winnie Yu Pow; Peterson, Candida Clifford] Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
[Kelly, Adrian B.] Univ Queensland, Sch Med, Ctr Youth Substance Abuse Res, Brisbane, Qld 4072, Australia.
RP Peterson, CC (reprint author), Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
EM candi@psy.uq.edu.au
RI Kelly, Adrian/G-4531-2011
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NR 36
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 DEC
PY 2013
VL 43
IS 12
BP 2807
EP 2815
DI 10.1007/s10803-013-1827-6
PG 9
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200006
PM 23619950
ER
PT J
AU Staniland, JJ
Byrne, MK
AF Staniland, Jessica J.
Byrne, Mitchell K.
TI The Effects of a Multi-Component Higher-Functioning Autism Anti-Stigma
Program on Adolescent Boys
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Higher-functioning autism; Knowledge; Attitudes; Behavioural intentions;
Peers
ID MENTAL-ILLNESS; CHILDRENS ATTITUDES; STUDENTS ATTITUDES;
SECONDARY-SCHOOLS; HONG-KONG; EDUCATION; INTERVENTIONS; PERCEPTIONS;
INTENTIONS; PARENTS
AB A six-session higher-functioning autism anti-stigma program incorporating descriptive, explanatory and directive information was delivered to adolescent boys and the impact upon knowledge, attitudes and behavioural intentions towards peers with autism was evaluated. Participants were seventh-, eighth- and ninth-grade students (N = 395) from regular classes in a mainstream school. Two-eighth-grade classes were randomly allocated to the intervention condition and all remaining students were either allocated to the no-intervention peer or no-intervention non-peer condition. The anti-stigma program improved the knowledge and attitudes, but not the behavioural intentions of participants towards their peers with autism. Knowledge and attitudinal changes were maintained at follow-up. There were no spill-over effects of the program to non-targeted students. These results provide some preliminary evidence for the effectiveness of multi-session anti-stigma programs incorporating combined information for adolescent students in inclusive educational environments.
C1 [Staniland, Jessica J.; Byrne, Mitchell K.] Univ Wollongong, Sch Psychol, Wollongong, NSW 2522, Australia.
RP Byrne, MK (reprint author), Univ Wollongong, Sch Psychol, Northfields Ave, Wollongong, NSW 2522, Australia.
EM mbyrne@uow.edu.au
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NR 51
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 DEC
PY 2013
VL 43
IS 12
BP 2816
EP 2829
DI 10.1007/s10803-013-1829-4
PG 14
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200007
PM 23619951
ER
PT J
AU Hollway, JA
Aman, MG
Butter, E
AF Hollway, Jill A.
Aman, Michael G.
Butter, Eric
TI Correlates and Risk Markers for Sleep Disturbance in Participants of the
Autism Treatment Network
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Sleep disturbance; Correlates; Risk markers
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; SOMATIC
COMPLAINTS; ADAPTIVE-BEHAVIOR; ASPERGER-SYNDROME; CHILDREN; CHILDHOOD;
QUESTIONNAIRE; ABNORMALITIES; ARCHITECTURE
AB We explored possible cognitive, behavioral, emotional, and physiological risk markers for sleep disturbance in children with autism spectrum disorders. Data from 1,583 children in the Autism Treatment Network were analyzed. Approximately 45 potential predictors were analyzed using hierarchical regression modeling. As medication could confound findings, it was included in the analyses as a covariate. Results revealed that anxiety, autism symptom severity, sensory sensitivities, and GI problems were associated with sleep disturbance. IQ positively predicted sleep disturbance, and children with Asperger's Disorder were more vulnerable than others. The amount of variance in sleep outcomes explained by predictor variables was modest (i.e., R (2) from .104 to .201). Predictor variables were evaluated in the context of a bidirectional theoretical framework.
C1 [Hollway, Jill A.; Aman, Michael G.] Ohio State Univ, Dept Psychol Intellectual & Dev Disabil, Nisonger Ctr, UCEDD, Columbus, OH 43210 USA.
[Butter, Eric] Ohio State Univ, Nationwide Childrens Hosp, Dept Pediat, Columbus, OH 43081 USA.
RP Hollway, JA (reprint author), Ohio State Univ, Dept Psychol Intellectual & Dev Disabil, Nisonger Ctr, UCEDD, 1581 Dodd Dr, Columbus, OH 43210 USA.
EM Jill.Hollway@osumc.edu; Michael.Aman@osumc.edu;
Eric.Butter@nationwidechildrens.org
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NR 59
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 DEC
PY 2013
VL 43
IS 12
BP 2830
EP 2843
DI 10.1007/s10803-013-1830-y
PG 14
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200008
PM 23624832
ER
PT J
AU Daniels, AM
Mandell, DS
AF Daniels, Amy M.
Mandell, David S.
TI Children's Compliance with American Academy of Pediatrics' Well-Child
Care Visit Guidelines and the Early Detection of Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Compliance; Well-child care; Autism; Diagnosis; Medicaid
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; PREVENTIVE CARE;
MEDICAID CLAIMS; YOUNG-CHILDREN; UNITED-STATES; HEALTH-CARE; DIAGNOSIS;
AGE; INTERVENTIONS
AB This study estimated compliance with American Academy of Pediatrics (AAP) guidelines for well-child care and the association between compliance and age at diagnosis in a national sample of Medicaid-enrolled children with autism (N = 1,475). Mixed effects linear regression was used to assess the relationship between compliance and age at diagnosis. Mean age at diagnosis was 37.4 (SD 8.4) months, and mean compliance was 55 % (SD 33 %). Children whose care was compliant with AAP guidelines were diagnosed 1.6 months earlier than children who received no well-child care. Findings support that the timely receipt of well-child care may contribute to earlier detection. Additional research on the contribution of compliance, well-child visit components and provider characteristics on the timely diagnosis of autism is needed.
C1 [Daniels, Amy M.] Johns Hopkins Bloomberg Sch Publ Hlth, Baltimore, MD 21205 USA.
[Mandell, David S.] Univ Penn, Ctr Mental Hlth Policy & Serv Res, Perelman Sch Med, Philadelphia, PA 19104 USA.
[Mandell, David S.] Childrens Hosp Philadelphia, Ctr Autism Res, 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@autismspeaks.org
RI Mandell, David/H-2730-2012
OI Mandell, David/0000-0001-8240-820X
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NR 74
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 DEC
PY 2013
VL 43
IS 12
BP 2844
EP 2854
DI 10.1007/s10803-013-1831-x
PG 11
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200009
PM 23619952
ER
PT J
AU Breidbord, J
Croudace, TJ
AF Breidbord, Jonathan
Croudace, Tim J.
TI Reliability Generalization for Childhood Autism Rating Scale
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Internal consistency; Meta-analysis; Psychometrics; Questionnaires;
Reliability generalisation; Reproducibility of results; Score stability
ID INTERNAL CONSISTENCY COEFFICIENTS; PERVASIVE DEVELOPMENTAL DISORDER;
SCORE RELIABILITY; SPECTRUM-DISORDER; LIFE SATISFACTION; YOUNG-CHILDREN;
SOCIAL-SKILLS; VALIDITY; PARENTS; STRESS
AB The Childhood Autism Rating Scale (CARS) is a popular behavior-observation instrument that was developed more than 34 years ago and has since been adopted in a wide variety of contexts for assessing the presence and severity of autism symptomatology in both children and adolescents. This investigation of the reliability of CARS scores involves meta-analysis and meta-regression of empirical data from reports of original research that made use of CARS between 1980 and 2012. Findings of good internal consistency (.896, 95 % CI .877-.913) and good interrater reliability (.796, 95 % CI .736-.844) support use of CARS at least in early-phase, exploratory research. Evidence of heterogeneity among literature data indicates that reliability is a property of CARS scores and is not intrinsic to the instrument itself. As the first of its kind pertaining to autism, this investigation provides guidance for reviews of other instruments' ratings.
C1 [Breidbord, Jonathan] Univ Cambridge Wolfson Coll, Cambridge CB3 9BB, England.
[Croudace, Tim J.] Univ York, Hull York Med Sch, Ctr Hlth & Populat Sci, Mental Hlth & Addict Res Grp,Dept Hlth Sci, York YO10 5DD, N Yorkshire, England.
[Croudace, Tim J.] Univ Cambridge, Dept Psychiat, Dev & Lifecourse Res Grp, Cambridge CB2 8AH, England.
RP Breidbord, J (reprint author), Univ Cambridge Wolfson Coll, Cambridge CB3 9BB, England.
EM jon@cantab.net
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NR 80
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 DEC
PY 2013
VL 43
IS 12
BP 2855
EP 2865
DI 10.1007/s10803-013-1832-9
PG 11
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200010
PM 23636714
ER
PT J
AU Eack, SM
Greenwald, DP
Hogarty, SS
Bahorik, AL
Litschge, MY
Mazefsky, CA
Minshew, NJ
AF Eack, Shaun M.
Greenwald, Deborah P.
Hogarty, Susan S.
Bahorik, Amber L.
Litschge, Maralee Y.
Mazefsky, Carla A.
Minshew, Nancy J.
TI Cognitive Enhancement Therapy for Adults with Autism Spectrum Disorder:
Results of an 18-month Feasibility Study
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Cognitive Enhancement Therapy; Cognitive rehabilitation; Cognitive
remediation; Psychosocial treatment; Cognitive therapy; Adult treatment;
Autism; Autism spectrum disorder
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; 2-YEAR
RANDOMIZED-TRIAL; EARLY SCHIZOPHRENIA; EMOTION RECOGNITION; SOCIAL
ADAPTATION; YOUNG-ADULTS; NEURAL BASIS; CHILDREN; REMEDIATION
AB Adults with autism experience significant impairments in social and non-social information processing for which few treatments have been developed. This study conducted an 18-month uncontrolled trial of Cognitive Enhancement Therapy (CET), a comprehensive cognitive rehabilitation intervention, in 14 verbal adults with autism spectrum disorder to investigate its feasibility, acceptability, and initial efficacy in treating these impairments. Results indicated that CET was satisfying to participants, with high treatment attendance and retention. Effects on cognitive deficits and social behavior were also large (d = 1.40-2.29) and statistically significant (all p < .001). These findings suggest that CET is a feasible, acceptable, and potentially effective intervention for remediating the social and non-social cognitive impairments in verbal adults with autism.
C1 [Eack, Shaun M.; Bahorik, Amber L.] Univ Pittsburgh, Sch Social Work, Pittsburgh, PA 15260 USA.
[Eack, Shaun M.; Greenwald, Deborah P.; Hogarty, Susan S.] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA 15260 USA.
[Greenwald, Deborah P.; Hogarty, Susan S.; Bahorik, Amber L.] Univ Pittsburgh, Med Ctr, Western Psychiat Inst & Clin, Pittsburgh, PA 15260 USA.
[Minshew, Nancy J.] Univ Pittsburgh, Sch Med, Dept Psychiat & Neurol, Pittsburgh, PA 15260 USA.
RP Eack, SM (reprint author), Univ Pittsburgh, Sch Social Work, 2117 Cathedral Learning, Pittsburgh, PA 15260 USA.
EM sme12@pitt.edu
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NR 61
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 DEC
PY 2013
VL 43
IS 12
BP 2866
EP 2877
DI 10.1007/s10803-013-1834-7
PG 12
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200011
PM 23619953
ER
PT J
AU van Steensel, FJA
Dirksen, CD
Bogels, SM
AF van Steensel, Francisca J. A.
Dirksen, Carmen D.
Bogels, Susan M.
TI A Cost of Illness Study of Children with High-Functioning Autism
Spectrum Disorders and Comorbid Anxiety Disorders as Compared to
Clinically Anxious and Typically Developing Children
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE ASD; Anxiety; Costs; Cost of illness
ID PERVASIVE DEVELOPMENTAL DISORDERS; HEALTH-CARE EXPENDITURES;
PSYCHIATRIC-DISORDERS; CONTROLLED-TRIAL; OF-ILLNESS; PREVALENCE; RATES;
METAANALYSIS; POPULATION; INTERVIEW
AB The study's aim was to estimate the societal costs of children with high-functioning ASD and comorbid anxiety disorder(s) (ASD + AD-group; n = 73), and to compare these costs to children with anxiety disorders (AD-group; n = 34), and typically developing children (controls; n = 87). Mean total costs for the ASD + AD-group amounted a,not sign17,380 per year. Societal costs were estimated at almost 142 million euro per year. Costs in the ASD + AD-group were four times higher compared to the AD-group, and 27 times higher compared to controls. ASD-related costs were higher in the ASD + AD-group; anxiety-related costs did not differ between the ASD + AD- and AD-group; costs due to physical or other reasons did not differ across groups. The findings suggest that costs can be decreased if effective treatment options for treating anxiety in ASD are established, however, the remaining costs associated with ASD would still be large. A limitation of the study is that a group of children with ASD without anxiety disorders is lacking.
C1 [van Steensel, Francisca J. A.; Bogels, Susan M.] Univ Amsterdam, Res Inst Child Dev & Educ, NL-1018 VZ Amsterdam, Netherlands.
[Dirksen, Carmen D.] Maastricht Univ, Med Ctr, Dept Clin Epidemiol & Med Technol Assessment KEMT, NL-6202 AZ Maastricht, Netherlands.
RP van Steensel, FJA (reprint author), Univ Amsterdam, Res Inst Child Dev & Educ, Nieuwe Prinsengracht 130, NL-1018 VZ Amsterdam, Netherlands.
EM f.j.a.vansteensel@uva.nl
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[Anonymous], 2010, DUTCH GUID COST RES
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NR 39
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 DEC
PY 2013
VL 43
IS 12
BP 2878
EP 2890
DI 10.1007/s10803-013-1835-6
PG 13
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200012
PM 23644915
ER
PT J
AU Woynaroski, TG
Kwakye, LD
Foss-Feig, JH
Stevenson, RA
Stone, WL
Wallace, MT
AF Woynaroski, Tiffany G.
Kwakye, Leslie D.
Foss-Feig, Jennifer H.
Stevenson, Ryan A.
Stone, Wendy L.
Wallace, Mark T.
TI Multisensory Speech Perception in Children with Autism Spectrum
Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Speech perception; Multisensory integration;
Auditory; Visual; McGurk effect; Sensory; Communication
ID DEVELOPMENTAL DISORDERS; VISUAL INFLUENCES; INTEGRATION; IMITATION;
RECOGNITION; PERFORMANCE; COMPLEXITY; BINDING; SYMPTOM; LIPS
AB This study examined unisensory and multisensory speech perception in 8-17 year old children with autism spectrum disorders (ASD) and typically developing controls matched on chronological age, sex, and IQ. Consonant-vowel syllables were presented in visual only, auditory only, matched audiovisual, and mismatched audiovisual ("McGurk") conditions. Participants with ASD displayed deficits in visual only and matched audiovisual speech perception. Additionally, children with ASD reported a visual influence on heard speech in response to mismatched audiovisual syllables over a wider window of time relative to controls. Correlational analyses revealed associations between multisensory speech perception, communicative characteristics, and responses to sensory stimuli in ASD. Results suggest atypical speech perception is linked to broader behavioral characteristics of ASD.
C1 [Woynaroski, Tiffany G.] Vanderbilt Univ, Dept Speech & Hearing Sci, Nashville, TN 37232 USA.
[Kwakye, Leslie D.] Oberlin Coll, Dept Neurosci, Oberlin, OH 44074 USA.
[Foss-Feig, Jennifer H.] Vanderbilt Univ, Dept Psychol & Human Dev, Nashville, TN 37235 USA.
[Stevenson, Ryan A.; Wallace, Mark T.] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Vanderbilt Brain Inst, Dept Hearing & Speech Sci Psychol & Psychiat, Nashville, TN 37235 USA.
[Stone, Wendy L.] Univ Washington, Dept Psychol, Seattle, WA 98195 USA.
[Stone, Wendy L.] Univ Washington, UW Autism Ctr, Seattle, WA 98195 USA.
RP Woynaroski, TG (reprint author), Vanderbilt Univ, Dept Speech & Hearing Sci, 1211 Med Ctr Dr, Nashville, TN 37232 USA.
EM tiffany.g.woynaroski@vanderbilt.edu; lkwakye@oberlin.edu
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American Psychiatric Association, 2012, DSM 5 DEV AUT SPECTR
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NR 54
TC 12
Z9 12
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 DEC
PY 2013
VL 43
IS 12
BP 2891
EP 2902
DI 10.1007/s10803-013-1836-5
PG 12
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200013
PM 23624833
ER
PT J
AU Sabatino, A
Rittenberg, A
Sasson, NJ
Turner-Brown, L
Bodfish, JW
Dichter, GS
AF Sabatino, Antoinette
Rittenberg, Alison
Sasson, Noah J.
Turner-Brown, Lauren
Bodfish, James W.
Dichter, Gabriel S.
TI Functional Neuroimaging of Social and Nonsocial Cognitive Control in
Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Functional magnetic resonance imaging; cognitive control;
Repetitive behaviors; Frontostriatal
ID ANTERIOR CINGULATE CORTEX; SPECTRUM DISORDERS; REPETITIVE BEHAVIOR;
PREFRONTAL CORTEX; CIRCUMSCRIBED INTERESTS; ATTENTIONAL CONTROL; TARGET
DETECTION; BRAIN IMAGES; FMRI; MRI
AB This study investigated cognitive control of social and nonsocial information in autism using functional magnetic resonance imaging. Individuals with autism spectrum disorders (ASDs) and a neurotypical control group completed an oddball target detection task where target stimuli were either faces or nonsocial objects previously shown to be related to circumscribed interests in autism. The ASD group demonstrated relatively increased activation to social targets in right insular cortex and in left superior frontal gyrus and relatively decreased activation to nonsocial targets related to circumscribed interests in multiple frontostriatal brain regions. Findings suggest that frontostriatal recruitment during cognitive control in ASD is contingent on stimulus type, with increased activation for social stimuli and decreased activation for nonsocial stimuli related to circumscribed interests.
C1 [Sabatino, Antoinette; Dichter, Gabriel S.] Univ N Carolina, Dept Psychol, Chapel Hill, NC 27599 USA.
[Sabatino, Antoinette; Rittenberg, Alison; Turner-Brown, Lauren; Dichter, Gabriel S.] Univ N Carolina, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA.
[Sasson, Noah J.] Univ Texas Dallas, Sch Behav & Brain Sci, Richardson, TX 75083 USA.
[Turner-Brown, Lauren; Dichter, Gabriel S.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA.
[Bodfish, James W.] Vanderbilt Univ, Dept Hearing & Speech Sci & Psychiat, Nashville, TN 37235 USA.
[Dichter, Gabriel S.] Duke UNC Brain Imaging & Anal Ctr, Durham, NC USA.
RP Sabatino, A (reprint author), Univ N Carolina, Dept Psychol, CB 3270, Chapel Hill, NC 27599 USA.
EM asabatin@email.unc.edu; g.dichter@gmail.com
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Weschler D, 1999, WESCHLER ABBREVIATED
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NR 69
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 DEC
PY 2013
VL 43
IS 12
BP 2903
EP 2913
DI 10.1007/s10803-013-1837-4
PG 11
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200014
PM 23636715
ER
PT J
AU Tsai, LY
AF Tsai, Luke Y.
TI Asperger's Disorder will be Back
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autistic disorder; Asperger's disorder; Pervasive developmental
disorder; Autism spectrum disorder; DSM-5
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS;
MOVEMENT-RELATED POTENTIALS; SCHOOL-AGE-CHILDREN; SPECTRUM DISORDERS;
COGNITIVE PROFILES; PRESCHOOL-CHILDREN; YOUNG-PEOPLE; LANGUAGE
IMPAIRMENT; WAIS-III
AB This review focuses on identifying up-to-date number of publications that compared DSM-IV/ICD-10 Asperger's disorder (AspD) to Autistic Disorder/High-functioning Autism (AD/HFA). One hundred and twenty-eight publications were identified through an extensive search of major electronic databases and journals. Based on more than 90 clinical variables been investigated, 94 publications concluded that there were statistically significant or near significant level of quantitative and/or qualitative differences between AspD and AD/HFA groups; 4 publications found both similarities and differences between the two groups; 30 publications concluded with no differences between the two groups. Although DSM-5 ASD will eliminate Asperger's disorder. However, it is plausible to predict that the field of ASD would run full circle during the next decade or two and that AspD will be back in the next edition of DSM.
C1 Univ Michigan, Sch Med, Dept Psychiat, Ann Arbor, MI 48105 USA.
RP Tsai, LY (reprint author), Univ Michigan, Sch Med, Dept Psychiat, 2385 Placid Way, Ann Arbor, MI 48105 USA.
EM lyctsai@umich.edu
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NR 162
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 DEC
PY 2013
VL 43
IS 12
BP 2914
EP 2942
DI 10.1007/s10803-013-1839-2
PG 29
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200015
PM 23644916
ER
PT J
AU Ingersoll, B
Wainer, A
AF Ingersoll, Brooke
Wainer, Allison
TI Initial Efficacy of Project ImPACT: A Parent-Mediated Social
Communication Intervention for Young Children with ASD
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; ASD; Social communication; Parent; Intervention
ID AUTISM SPECTRUM DISORDERS; RANDOMIZED CONTROLLED-TRIAL; TODDLERS;
LANGUAGE; DESIGNS
AB Project ImPACT is a parent-mediated social communication intervention for young children with ASD that was developed in community settings to encourage dissemination. A single-subject, multiple-baseline design was conducted across 8 preschoolers with ASD and their mothers to examine the efficacy of the model for improving parent intervention fidelity and child spontaneous language. Multilevel modeling was used to examine the relationship between parent fidelity and child language within session. All parents increased their use of the intervention techniques. Improvements in spontaneous use of language targets were observed for 6 of the 8 children. There was a significant association between parents' use of the intervention strategies and their child's spontaneous language use.
C1 [Ingersoll, Brooke; Wainer, Allison] Michigan State Univ, E Lansing, MI 48824 USA.
RP Ingersoll, B (reprint author), Michigan State Univ, Psychol Bldg,Rm 105B, E Lansing, MI 48824 USA.
EM ingers19@msu.edu; waineral@msu.edu
RI Ingersoll, Brooke/A-9117-2012
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Zimmerman I., 2002, PRESCHOOL LANGUAGE S, V4th
NR 32
TC 4
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 DEC
PY 2013
VL 43
IS 12
BP 2943
EP 2952
DI 10.1007/s10803-013-1840-9
PG 10
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200016
PM 23689760
ER
PT J
AU Vismara, LA
McCormick, C
Young, GS
Nadhan, A
Monlux, K
AF Vismara, Laurie A.
McCormick, Carolyn
Young, Gregory S.
Nadhan, Anna
Monlux, Katerina
TI Preliminary Findings of a Telehealth Approach to Parent Training in
Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Telehealth; Computers/internet; Parent training; Autism spectrum
disorder
ID RANDOMIZED CONTROLLED-TRIAL; JOINT ATTENTION; SERVICE PROVIDERS; CHILD
INTERACTION; INTERVENTIONS; PROGRAM; REACH; COMMUNICATION; TODDLERS;
LANGUAGE
AB Telehealth or online communication technologies may lessen the gap between intervention requirements for children with autism spectrum disorders (ASDs) and the available resources to provide these services. This study used a video conferencing and self-guided website to provide parent training in the homes of children with ASD. The first eight families to complete the 12-week online intervention and three-month follow up period served as pilot data. Parents' intervention skills and engagement with the website, as well as children's verbal language and joint attention skills were assessed. Preliminary research suggests telehealth may support parental learning and improve child behaviors for some families. This initial assessment of new technologies for making parent training resources available to families with ASD merits further, in-depth study.
C1 [Vismara, Laurie A.; McCormick, Carolyn; Young, Gregory S.] Univ Calif Davis, Dept Psychiat & Behav Sci, MIND Inst, Sacramento, CA 95817 USA.
[Nadhan, Anna] Univ Calif Davis, Dept Neurol Physiol & Behav, Sacramento, CA 95817 USA.
[Monlux, Katerina] Univ Calif Davis, Dept Psychol, Sacramento, CA 95817 USA.
RP Vismara, LA (reprint author), Univ Calif Davis, Dept Psychiat & Behav Sci, MIND Inst, 2825 50th St, Sacramento, CA 95817 USA.
EM laurie.vismara@ucdmc.ucdavis.edu
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NR 48
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 DEC
PY 2013
VL 43
IS 12
BP 2953
EP 2969
DI 10.1007/s10803-013-1841-8
PG 17
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200017
PM 23677382
ER
PT J
AU Suhrheinrich, J
Stahmer, AC
Reed, S
Schreibman, L
Reisinger, E
Mandell, D
AF Suhrheinrich, Jessica
Stahmer, Aubyn C.
Reed, Sarah
Schreibman, Laura
Reisinger, Erica
Mandell, David
TI Implementation Challenges in Translating Pivotal Response Training into
Community Settings
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Fidelity of implementation; Pivotal response training; Translation;
Special education
ID AUTISM SPECTRUM DISORDERS; REINFORCER RELATIONSHIPS; CHILDREN;
INTERVENTION; TODDLERS
AB Implementing evidence-based practices (EBPs) for children with autism is challenging for teachers because these practices are often complex, requiring significant training and resources that are not available in most school settings. This brief investigation was designed to identify areas of strength and difficulty for teachers implementing one such EBP, pivotal response training (PRT). Observational data were gathered from 41 teachers participating in two separate investigations involving PRT. Despite differences in training procedures, teachers demonstrated similarities in areas of strength (clear opportunities/instruction and child choice) and difficulty (turn taking and multiple cues). These findings suggest next steps toward systematic adaptation of PRT for classroom use. The research may serve as a model for the process of adapting EBPs for practice settings.
C1 [Suhrheinrich, Jessica; Stahmer, Aubyn C.; Reed, Sarah] Rady Childrens Hosp San Diego, Child & Adolescent Serv Res Ctr, San Diego, CA 92123 USA.
[Suhrheinrich, Jessica; Stahmer, Aubyn C.; Reed, Sarah; Schreibman, Laura] Univ Calif San Diego, Dept Psychol, La Jolla, CA 92093 USA.
[Reisinger, Erica; Mandell, David] Univ Penn, Ctr Autism Res, Ctr Mental Hlth Policy & Serv Res, Philadelphia, PA 19104 USA.
RP Suhrheinrich, J (reprint author), Rady Childrens Hosp San Diego, Child & Adolescent Serv Res Ctr, 3020 Childrens Way,MC 5033, San Diego, CA 92123 USA.
EM jsuhrheinrich@casrc.org; astahmer@casrc.org; sreed@casrc.org;
lschreibman@ucsd.edu; ereis@upenn.edu; mandelld@upenn.edu
RI Mandell, David/H-2730-2012
OI Mandell, David/0000-0001-8240-820X
CR Arick J., 2004, STAR PROGRAM STRATEG
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NR 28
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 DEC
PY 2013
VL 43
IS 12
BP 2970
EP 2976
DI 10.1007/s10803-013-1826-7
PG 7
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200018
PM 23619949
ER
PT J
AU Taddei, S
Contena, B
AF Taddei, Stefano
Contena, Bastianina
TI Brief Report: Cognitive Performance in Autism and Asperger's Syndrome:
What are the Differences?
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Executive functions; Cognitive processes;
PASS theory; Cognitive Assessment System
ID HIGH-FUNCTIONING AUTISM; EXECUTIVE FUNCTIONS; SPECTRUM DISORDERS;
ASSESSMENT SYSTEM; DIAGNOSTIC-CRITERIA; PASS THEORY; CHILDREN;
ATTENTION; DSM-5; INTELLIGENCE
AB Autism spectrum disorders include autistic and Asperger's Syndrome (AS), often studied in terms of executive functions (EF), with controversial results. Using Planning Attention Simultaneous Successive theory (PASS; Das et al. in Assessment of cognitive processes: the PASS theory of intelligence. Allyn and Bacon, Boston, MA, 1994), this research compares the cognitive profiles obtained by the Cognitive Assessment System (CAS; Naglieri and Das in Cognitive assessment system. Riverside, Itasca, IL, 1997) of 15 subjects with typical development, 18 with autistic disorder and 20 with AS. Results highlight lower profiles for children with autistic and AS compared with typical development and even lower Planning and Attention processes for the group with autistic disorders than that with Asperger's. Subjects with Asperger's diagnosis do not differ from those with typical development as regards Simultaneous and Successive processes. Results are discussed in the light of current studies about EF.
C1 [Taddei, Stefano; Contena, Bastianina] Univ Florence, Dept Hlth Sci, Psychol & Psychiat Unit, I-50135 Florence, Italy.
RP Taddei, S (reprint author), Univ Florence, Dept Hlth Sci, Psychol & Psychiat Unit, Via San Salvi 12,Pad 26, I-50135 Florence, Italy.
EM stefano.taddei@psico.unifi.it; bastianina.contena@unifi.it
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NR 59
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 DEC
PY 2013
VL 43
IS 12
BP 2977
EP 2983
DI 10.1007/s10803-013-1828-5
PG 7
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200019
PM 23609958
ER
PT J
AU Taylor, LJ
Maybery, MT
Wray, J
Ravine, D
Hunt, A
Whitehouse, AJO
AF Taylor, Lauren J.
Maybery, Murray T.
Wray, John
Ravine, David
Hunt, Anna
Whitehouse, Andrew J. O.
TI Brief Report: Do the Nature of Communication Impairments in Autism
Spectrum Disorders Relate to the Broader Autism Phenotype in Parents?
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Heritable language phenotype; Broader autism phenotype; Communication
impairment
ID LANGUAGE IMPAIRMENT; MULTIPLE-INCIDENCE; INFANTILE-AUTISM;
FAMILY-HISTORY; CHILDREN; ABILITIES; CHECKLIST; IDENTIFY; SIBLINGS;
QUOTIENT
AB Extensive empirical evidence indicates that the lesser variant of Autism Spectrum Disorders (ASD) involves a communication impairment that is similar to, but milder than, the deficit in clinical ASD. This research explored the relationship between the broader autism phenotype (BAP) among parents, an index of genetic liability for ASD, and proband communication difficulties. ASD probands with at least one BAP parent (identified using the Autism Spectrum Quotient) had greater structural and pragmatic language difficulties (assessed using the Children's Communication Checklist-2) than ASD probands with no BAP parent. This finding provides support for the position that genetic liability for ASD is associated with increased communication difficulties across structural and pragmatic domains.
C1 [Taylor, Lauren J.; Maybery, Murray T.; Whitehouse, Andrew J. O.] Univ Western Australia, Sch Psychol, Neurocognit Dev Unit, Crawley, WA 6009, Australia.
[Taylor, Lauren J.; Hunt, Anna; Whitehouse, Andrew J. O.] Univ Western Australia, Ctr Child Hlth Res, Telethon Inst Child Hlth Res, Perth, WA 6009, Australia.
[Wray, John] Princess Margaret Hosp Children, State Child Dev Ctr, Child & Adolescent Hlth Serv, Perth, WA, Australia.
[Ravine, David] Sch Pathol & Lab Med, Perth, WA, Australia.
RP Taylor, LJ (reprint author), Univ Western Australia, Sch Psychol, Neurocognit Dev Unit, M304,35 Stirling Highway, Crawley, WA 6009, Australia.
EM lauren.taylor@graduate.uwa.edu.au
RI Maybery, Murray/H-5390-2014
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NR 37
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 DEC
PY 2013
VL 43
IS 12
BP 2984
EP 2989
DI 10.1007/s10803-013-1838-3
PG 6
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200020
PM 23619954
ER
PT J
AU Verhoeven, EWM
Smeekens, I
Didden, R
AF Verhoeven, E. W. M.
Smeekens, I.
Didden, R.
TI Brief Report: Suitability of the Social Skills Performance Assessment
(SSPA) for the Assessment of Social Skills in Adults with Autism
Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Social skills; Adults; Role play
ID HIGH-FUNCTIONING AUTISM; SCHIZOPHRENIA; RELIABILITY; INTERVENTIONS;
IMPAIRMENT; CAPACITY
AB The present study aims at examining whether the 'Social Skills Performance Assessment' (SSPA; Patterson et al. in Schizophr Res 48(2-3):351-360, 2001) is a suitable performance-based measure to assess social skills in adults with autism spectrum disorders (ASD). For this purpose, social skills of individuals with ASD and non-ASD participants were assessed through the SSPA role plays. Results of this study suggest that the SSPA is suitable for the assessment of social skills in adults with ASD. The SSPA discriminates between individuals with ASD and non-ASD individuals, with the ASD group scoring significantly lower. Although no evidence was found for convergent validity of the SSPA in participants with ASD, divergent validity of the SSPA and interrater reliability among adults with ASD were good.
C1 [Verhoeven, E. W. M.; Smeekens, I.] Dr Leo Kannerhuis, Dept Res & Dev, NL-6865 ZH Doorwerth, Netherlands.
[Smeekens, I.; Didden, R.] Radboud Univ Nijmegen, Inst Behav Sci, NL-6500 HE Nijmegen, Netherlands.
RP Verhoeven, EWM (reprint author), Dr Leo Kannerhuis, Dept Res & Dev, POB 62,Houtsniplaan 1A, NL-6865 ZH Doorwerth, Netherlands.
EM l.verhoeven@leokannerhuis.nl
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American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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De Jong A., 2001, GRONINGSE VRAGENLIJS
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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 DEC
PY 2013
VL 43
IS 12
BP 2990
EP 2996
DI 10.1007/s10803-013-1843-6
PG 7
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200021
PM 23624879
ER
PT J
AU Booth, T
Murray, AL
McKenzie, K
Kuenssberg, R
O'Donnell, M
Burnett, H
AF Booth, Tom
Murray, Aja Louise
McKenzie, Karen
Kuenssberg, Renate
O'Donnell, Michael
Burnett, Hollie
TI Brief Report: An Evaluation of the AQ-10 as a Brief Screening Instrument
for ASD in Adults
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; AQ; ASD; Screening; ROC analysis
ID SPECTRUM QUOTIENT AQ; AUTISM
AB There is a need for brief screening instruments for autistic spectrum disorders (ASD) that can be used by frontline healthcare professionals to aid in the decision as to whether an individual should be referred for a full diagnostic assessment. In this study we evaluated the ability of a short form of the autism spectrum quotient (AQ) questionnaire, the 10 item AQ-10, to correctly classify individuals as having or not having ASD. In a sample of 149 individuals with ASD and 134 controls without an ASD diagnosis, we found that the full AQ (AQ-50) abridged AQ (AQ-S) and AQ-10 all performed well as a screen for ASD. ROC analysis indicated that sensitivity, specificity and area under the curve were very similar at suggested cut-off's for ASD across measures, with little difference in performance between the AQ-10 and full AQ-50. Results indicate the potential usefulness of the AQ-10 as a brief screen for ASD.
C1 [Booth, Tom; Murray, Aja Louise; O'Donnell, Michael] Univ Edinburgh, Dept Psychol, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh EH8 9JZ, Midlothian, Scotland.
[McKenzie, Karen; Burnett, Hollie] Univ Edinburgh, Dept Clin Psychol, Edinburgh EH8 9JZ, Midlothian, Scotland.
[Kuenssberg, Renate] NHS Fife, Kirkcaldy, Scotland.
RP Booth, T (reprint author), Univ Edinburgh, Dept Psychol, Ctr Cognit Ageing & Cognit Epidemiol, 7 George Sq, Edinburgh EH8 9JZ, Midlothian, Scotland.
EM tom.booth@ed.ac.uk
CR Allison C., 2012, J AM ACAD CHILD ADOL, V51, pe7
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Baron-Cohen S, 2001, J AUTISM DEV DISORD, V31, P5, DOI 10.1023/A:1005653411471
Baron-Cohen S, 2005, J AUTISM DEV DISORD, V35, P807, DOI 10.1007/s10803-005-0026-5
Blacher J., 2003, CURRENT OPINION PSYC, V16
Burnett HG, 2013, J AUTISM DEV DISORD, V43, P211, DOI 10.1007/s10803-012-1567-z
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Matson JL, 2009, RES DEV DISABIL, V30, P1107, DOI 10.1016/j.ridd.2009.06.003
NICE, 2012, AUT REC REF DIAGN MA
Robin X, 2011, BMC BIOINFORMATICS, V12, DOI 10.1186/1471-2105-12-77
Wheelwright S, 2010, MOL AUTISM, V1, DOI 10.1186/2040-2392-1-10
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NR 14
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 DEC
PY 2013
VL 43
IS 12
BP 2997
EP 3000
DI 10.1007/s10803-013-1844-5
PG 4
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200022
PM 23640304
ER
PT J
AU Cardoso-Martins, C
Goncalves, DT
de Magalhaes, CG
AF Cardoso-Martins, Claudia
Goncalves, Daniela Teixeira
de Magalhaes, Caroline Greiner
TI What are the Mechanisms Behind Exceptional Word Reading Ability in
Hyperlexia?: Evidence from a 4-Year-Old Hyperlexic Boy's Invented
Spellings
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Letter
ID AUTISM SPECTRUM DISORDERS; CHILDREN; SKILLS
C1 [Cardoso-Martins, Claudia; Goncalves, Daniela Teixeira; de Magalhaes, Caroline Greiner] Univ Fed Minas Gerais, Dept Psicol, Belo Horizonte, MG, Brazil.
RP Cardoso-Martins, C (reprint author), Univ Fed Minas Gerais, Dept Psicol, Av Antonio Carlos 6627, Belo Horizonte, MG, Brazil.
EM cardosomartins.c@gmail.com
CR Cardoso-Martins C, 2010, READ WRIT, V23, P129, DOI 10.1007/s11145-008-9154-6
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Stein LM, 1994, TDE TESTE DESEMPENHO
NR 12
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 DEC
PY 2013
VL 43
IS 12
BP 3001
EP 3003
DI 10.1007/s10803-013-1857-0
PG 3
WC Psychology, Developmental
SC Psychology
GA 249UF
UT WOS:000326802200023
PM 23722887
ER
PT J
AU Ghosh, D
Rajan, PV
Erenberg, G
AF Ghosh, Debabrata
Rajan, Prashant V.
Erenberg, Gerald
TI A Comparative Study of Primary and Secondary Stereotypies
SO JOURNAL OF CHILD NEUROLOGY
LA English
DT Article
DE stereotypy; primary; secondary; self-stimulating
ID AUTISM SPECTRUM DISORDERS; MOTOR STEREOTYPIES; CHILDREN; BEHAVIORS;
MOVEMENTS
AB This study compares primary stereotypies (repetitive, self-stimulating, and seemingly nonsensical movements that can occur within typically developing children) and secondary stereotypies (those occurring within autistic or mentally retarded children). Utilizing a retrospective chart review from 1995 to 2010, the current study compares primary and secondary stereotypies by the application of a classification system that organizes the movement by its type (motor only, phonic only, mixed) and complexity. In addition, it investigates other parameters associated with the movements such as duration, frequency, age, functional impairment, and progression. The sample group consisted of 28 primary and 28 secondary cases. Primary stereotypies were predominantly motor, simple, of shorter duration, and of less frequency, whereas secondary stereotypies had more vocalization, complexity, longer durations, and higher frequencies. Moreover, functional impairment due to stereotypies was noted in 3 primary and 7 secondary cases, and worsening of stereotypies was noted in 70% of primary versus 44% of secondary cases.
C1 [Ghosh, Debabrata; Rajan, Prashant V.; Erenberg, Gerald] Childrens Hosp, Cleveland Clin, Pediat Neurol Ctr, Cleveland, OH USA.
RP Ghosh, D (reprint author), Cleveland Clin, Pediat Neurol Ctr, Desk S 60,9500 Euclid Ave, Cleveland, OH 44195 USA.
EM ghoshd2@ccf.org
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT, P70
Baranek GT, 1999, J AUTISM DEV DISORD, V29, P213, DOI 10.1023/A:1023080005650
Fernandez AE, 2004, REV NEUROL S1, V38, pS21
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Smith EA, 1996, RES DEV DISABIL, V17, P253, DOI 10.1016/0891-4222(96)00007-8
NR 19
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 DEC
PY 2013
VL 28
IS 12
BP 1562
EP 1568
DI 10.1177/0883073812464271
PG 7
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 250NQ
UT WOS:000326859900003
PM 23143719
ER
PT J
AU Jeste, SS
Hirsch, S
Vogel-Farley, V
Norona, A
Navalta, MC
Gregas, MC
Prabhu, SP
Sahin, M
Nelson, CA
AF Jeste, Shafali Spurling
Hirsch, Suzanna
Vogel-Farley, Vanessa
Norona, Amanda
Navalta, Mary-Clare
Gregas, Matt C.
Prabhu, Sanjay P.
Sahin, Mustafa
Nelson, Charles A.
TI Atypical Face Processing in Children With Tuberous Sclerosis Complex
SO JOURNAL OF CHILD NEUROLOGY
LA English
DT Article
DE tuberous sclerosis complex; autism; evoked potentials; cortical tubers
ID AUTISM SPECTRUM DISORDERS; EVENT-RELATED POTENTIALS; YOUNG-CHILDREN;
TYPICAL DEVELOPMENT; BRAIN; RECOGNITION; ADOLESCENTS; IMPAIRMENT;
ATTENTION; RESPONSES
AB There is a high incidence of autism in tuberous sclerosis complex. Given the evidence of impaired face processing in autism, the authors sought to investigate electrophysiological markers of face processing in children with tuberous sclerosis complex. The authors studied 19 children with tuberous sclerosis complex under age 4, and 20 age-matched controls, using a familiar-unfamiliar faces paradigm. Of the children, 6 with tuberous sclerosis complex (32%) had autism. Children with tuberous sclerosis complex showed a longer N290 latency than controls (276 ms vs 259 ms, P = .05) and also failed to show the expected hemispheric differences in face processing. The longest N290 latency was seen in (1) children with autism and tuberous sclerosis complex and (2) children with temporal lobe tubers. This study is the first to quantify atypical face processing in children with tuberous sclerosis complex. This functional impairment may provide insight into a mechanism underlying a pathway to autism in tuberous sclerosis complex.
C1 [Jeste, Shafali Spurling; Norona, Amanda; Navalta, Mary-Clare] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90095 USA.
[Jeste, Shafali Spurling; Gregas, Matt C.; Sahin, Mustafa] Harvard Univ, Sch Med, Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.
[Hirsch, Suzanna; Vogel-Farley, Vanessa; Nelson, Charles A.] Harvard Univ, Sch Med, Childrens Hosp, Labs Cognit Neurosci, Boston, MA 02115 USA.
[Gregas, Matt C.] Childrens Hosp, Clin Res Program, Boston, MA 02115 USA.
[Prabhu, Sanjay P.] Harvard Univ, Sch Med, Childrens Hosp, Dept Neuroradiol, Boston, MA 02115 USA.
[Sahin, Mustafa] Childrens Hosp, FM Kirby Neurobiol Ctr, Boston, MA 02115 USA.
RP Jeste, SS (reprint author), Univ Calif Los Angeles, Ctr Autism Res & Treatment, Semel Inst Neurosci & Human Behav, 760 Westwood Plaza,Suite 68-237, Los Angeles, CA 90095 USA.
EM sjeste@mednet.ucla.edu
FU Child Neurology Society Researcher in Training Award; American Academy
of Neurology Clinical Research Training Fellowship; National Institute
of Mental Health [MH089901, K23MH094517]; Department of Defense (CDMRP
TSCRP); John Merck Fund; Junior Investigator Award from Children's
Hospital, Boston Translational Research Program
FX The authors disclosed receipt of the following financial support for the
research and/or authorship of this article. SSJ was supported by grants
from the Child Neurology Society Researcher in Training Award, the
American Academy of Neurology Clinical Research Training Fellowship, the
National Institute of Mental Health (MH089901, K23MH094517). SSJ and CAN
were supported by the Department of Defense (CDMRP TSCRP). MS was
supported by the John Merck Fund and a Junior Investigator Award from
Children's Hospital, Boston Translational Research Program.
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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 0883-0738
EI 1708-8283
J9 J CHILD NEUROL
JI J. Child Neurol.
PD DEC
PY 2013
VL 28
IS 12
BP 1569
EP 1576
DI 10.1177/0883073812465122
PG 8
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 250NQ
UT WOS:000326859900004
PM 23143725
ER
PT J
AU Rosman, NP
Bergia, BM
AF Rosman, N. Paul
Bergia, Berta M.
TI Childhood Disintegrative Disorder: Distinction From Autistic Disorder
and Predictors of Outcome
SO JOURNAL OF CHILD NEUROLOGY
LA English
DT Article
DE childhood disintegrative disorder; Heller syndrome; autism; pervasive
developmental disorder
ID PERVASIVE DEVELOPMENTAL DISORDERS; INFANTILE-AUTISM; SPEECH LOSS;
FOLLOW-UP; SPECTRUM DISORDERS; DSM-IV; PSYCHOSIS; EPILEPSY; PREVALENCE;
CHILDREN
AB Childhood disintegrative disorder, a rare, relentlessly progressive neurologic disorder, first described by Heller in 1908, remains a condition of great interest. It has long been debated whether it is a discrete disorder or simply a late-onset variant of childhood autism. We have studied 6 cases of childhood disintegrative disorder, collected over 8 years, and followed for 2.5 to 22 years (mean 8.6 years). Childhood disintegrative disorder begins later in life than autism, and following a period of entirely normal development; the regression is more global and more severe than in autism; seizures are more frequent than in autism, yet demonstrable organicity in childhood disintegrative disorder is decidedly rare. Lastly, the prognosis is usually much worse than in autism, but in those cases with neither seizures nor epileptiform activity on electroencephalography (EEG), the outcome may be more favorable. Childhood disintegrative disorder should be viewed as a condition distinct from childhood autism.
C1 [Rosman, N. Paul] Boston Univ, Sch Med, Boston Med Ctr, Dept Pediat, Boston, MA 02118 USA.
[Rosman, N. Paul] Boston Univ, Sch Med, Boston Med Ctr, Div Pediat Neurol,Dept Neurol, Boston, MA 02118 USA.
[Bergia, Berta M.] Pk West Med Ctr, Knoxville, TN USA.
RP Rosman, NP (reprint author), Boston Univ, Sch Med, Boston Med Ctr, Dept Pediat, 1 Boston Med Ctr Pl,Dowling 3 South, Boston, MA 02118 USA.
EM npaul.rosman@bmc.org
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NR 57
TC 2
Z9 2
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 DEC
PY 2013
VL 28
IS 12
BP 1587
EP 1598
DI 10.1177/0883073812472391
PG 12
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 250NQ
UT WOS:000326859900006
PM 23340080
ER
EF