FN Thomson Reuters Web of Science™
VR 1.0
PT J
AU Baugher, JD
Baugher, BD
Shirley, MD
Pevsner, J
AF Baugher, Joseph D.
Baugher, Benjamin D.
Shirley, Matthew D.
Pevsner, Jonathan
TI Sensitive and specific detection of mosaic chromosomal abnormalities
using the Parent-of-Origin-based Detection (POD) method
SO BMC GENOMICS
LA English
DT Article
DE Mosaicism; Parent-of-origin; Trio; Parent-child; Software; Microarray;
Autism; Cleft; HapMap
ID DETECTABLE CLONAL MOSAICISM; DENSITY SNP ARRAYS; COPY NUMBER;
ANEUPLOIDY; CANCER; HETEROZYGOSITY; IDENTIFICATION; SEGMENTATION;
INHERITANCE; VARIANTS
AB Background: Mosaic somatic alterations are present in all multi-cellular organisms, but the physiological effects of low-level mosaicism are largely unknown. Most mosaic alterations remain undetectable with current analytical approaches, although the presence of such alterations is increasingly implicated as causative for disease.
Results: Here, we present the Parent-of-Origin-based Detection (POD) method for chromosomal abnormality detection in trio-based SNP microarray data. Our software implementation, triPOD, was benchmarked using a simulated dataset, outperformed comparable software for sensitivity of abnormality detection, and displayed substantial improvement in the detection of low-level mosaicism while maintaining comparable specificity. Examples of low-level mosaic abnormalities from a large autism dataset demonstrate the benefits of the increased sensitivity provided by triPOD. The triPOD analyses showed robustness across multiple types of Illumina microarray chips. Two large, clinically-relevant datasets were characterized and compared.
Conclusions: Our method and software provide a significant advancement in the ability to detect low-level mosaic abnormalities, thereby opening new avenues for research into the implications of mosaicism in pathogenic and non-pathogenic processes.
C1 [Baugher, Joseph D.; Shirley, Matthew D.; Pevsner, Jonathan] Johns Hopkins Sch Med, Program Biochem Cellular & Mol Biol, Baltimore, MD 21205 USA.
[Baugher, Benjamin D.] Johns Hopkins Univ, Appl Phys Lab, Laurel, MD 20723 USA.
[Pevsner, Jonathan] Johns Hopkins Sch Med, Program Human Genet, Baltimore, MD 21205 USA.
[Pevsner, Jonathan] Johns Hopkins Med Inst, Hugo W Moser Res Inst, Dept Neurol, Baltimore, MD 21205 USA.
[Pevsner, Jonathan] Johns Hopkins Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA.
RP Pevsner, J (reprint author), Johns Hopkins Sch Med, Program Biochem Cellular & Mol Biol, Baltimore, MD 21205 USA.
EM pevsner@kennedykrieger.org
FU Autism Genetic Resource Exchange is a program of Autism Speaks
[1U24MH081810]; National Institute of Mental Health; National Institute
of Dental and Craniofacial Research (NIDCR); Iowa Comprehensive Program
to Investigate Craniofacial and Dental Anomalies (Murray) [R01-DE-09886,
R01-DE-012472, R01-DE-014677, R01-DE-016148, R21-DE-016930,
R01-DE-013939]; [R21-DE-01370]; [R01-DE-014581]; [R37-DE-08559];
[P50-DE-016215]
FX We thank Eric L. Stevens for critical review of the manuscript. We
gratefully acknowledge the resources provided by the Autism Genetic
Resource Exchange (AGRE) Consortium and the participating AGRE families.
The Autism Genetic Resource Exchange is a program of Autism Speaks and
is supported, in part, by grant 1U24MH081810 from the National Institute
of Mental Health to Clara M. Lajonchere (PI). We thank Dr. Cathy Laurie
for providing sample identifiers for previously reported mosaic
abnormalities within the cleft lip/palate dataset. We thank Drs. Terri
H. Beaty, Alan F. Scott, Ingo Ruczinski, and Robert Scharpf for
facilitating access to the cleft dataset. Funding support for the study
entitled "International Consortium to Identify Genes and Interactions
Controlling Oral Clefts" was provided by several previous grants from
the National Institute of Dental and Craniofacial Research (NIDCR). Data
and samples were drawn from several studies performed by members of this
consortium. Funding to support original data collection, previous
genotyping, and analysis was provided to individual investigators from
several sources. Funding for individual investigators included:
R21-DE-013707 and R01-DE-014581 (Beaty); R37-DE-08559 and P50-DE-016215
(Murray, Marazita); the Iowa Comprehensive Program to Investigate
Craniofacial and Dental Anomalies (Murray); R01-DE-09886 (Marazita);
R01-DE-012472 (Marazita); R01-DE-014677 (Marazita); R01-DE-016148
(Marazita); R21-DE-016930 (Marazita); and R01-DE-013939 (Scott). Parts
of this research were supported by the Intramural Research Program of
the NIH, National Institute of Environmental Health Sciences (Wilcox,
Lie). Additional recruitment was supported by the Smile Train Foundation
for recruitment in China (Jabs, Beaty, Shi) and a grant from the Korean
government (Jee). The genomewide association study, also known the
International Cleft Consortium, is part of the Gene Environment
Association Studies (GENEVA) program of the trans-NIH Genes,
Environment, and Health Initiative [GEI] supported by U01-DE- 018993.
Genotyping services were provided by the Center for Inherited Disease
Research (CIDR). CIDR is fully funded through a federal contract from
the National Institutes of Health (NIH) to The Johns Hopkins University,
contract number HHSN268200782096C. Funds for genotyping were provided by
the NIDCR through CIDR's NIH contract. Assistance with genotype
cleaning, as well as with general study coordination, was provided by
the GENEVA Coordinating Center (U01-HG-004446) and by the National
Center for Biotechnology Information (NCBI). We sincerely thank all of
the patients and families at each recruitment site for participating in
this study, and we gratefully acknowledge the invaluable assistance of
all clinical, field, and laboratory staff who contributed to this effort
over the years.
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NR 37
TC 3
Z9 3
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-2164
J9 BMC GENOMICS
JI BMC Genomics
PD MAY 31
PY 2013
VL 14
AR 367
DI 10.1186/1471-2164-14-367
PG 22
WC Biotechnology & Applied Microbiology; Genetics & Heredity
SC Biotechnology & Applied Microbiology; Genetics & Heredity
GA 160KB
UT WOS:000320117300001
PM 23724825
ER
PT J
AU Mejia, M
Heghinian, MD
Mari, F
Godenschwege, TA
AF Mejia, Monica
Heghinian, Mari D.
Mari, Frank
Godenschwege, Tanja A.
TI New Tools for Targeted Disruption of Cholinergic Synaptic Transmission
in Drosophila melanogaster
SO PLOS ONE
LA English
DT Article
ID NICOTINIC ACETYLCHOLINE-RECEPTOR; LARVAL NEUROMUSCULAR-JUNCTION;
LIGAND-BINDING DOMAIN; GIANT FIBER SYSTEM; LONG-TERM-MEMORY;
L-GLUTAMATE; EXPRESSION; D-ALPHA-7; NEURONS; ACHBP
AB Nicotinic acetylcholine receptors (nAChRs) are pentameric ligand-gated ion channels. The alpha 7 subtype of nAChRs is involved in neurological pathologies such as Parkinson's disease, Alzheimer's disease, addiction, epilepsy and autism spectrum disorders. The Drosophila melanogaster alpha 7 (D alpha 7) has the closest sequence homology to the vertebrate alpha 7 subunit and it can form homopentameric receptors just as the vertebrate counterpart. The D alpha 7 subunits are essential for the function of the Giant Fiber circuit, which mediates the escape response of the fly. To further characterize the receptor function, we generated different missense mutations in the D alpha 7 nAChR's ligand binding domain. We characterized the effects of targeted expression of two UAS-constructs carrying a single mutation, D197A and Y195T, as well as a UAS-construct carrying a triple D77T, L117Q, I196P mutation in a D alpha 7 null mutant and in a wild type background. Expression of the triple mutation was able to restore the function of the circuit in D alpha 7 null mutants and had no disruptive effects when expressed in wild type. In contrast, both single mutations severely disrupted the synaptic transmission of D alpha 7-dependent but not glutamatergic or gap junction dependent synapses in wild type background, and did not or only partially rescued the synaptic defects of the null mutant. These observations are consistent with the formation of hybrid receptors, consisting of D197A or Y195T subunits and wild type D alpha 7 subunits, in which the binding of acetylcholine or acetylcholine-induced conformational changes of the D alpha 7 receptor are altered and causes inhibition of cholinergic responses. Thus targeted expression of D197A or Y195T can be used to selectively disrupt synaptic transmission of D alpha 7-dependent synapses in neuronal circuits. Hence, these constructs can be used as tools to study learning and memory or addiction associated behaviors by allowing the manipulation of neuronal processing in the circuits without affecting other cellular signaling.
C1 [Mejia, Monica] Florida Atlantic Univ, Dept Biol Sci, Boca Raton, FL 33431 USA.
[Heghinian, Mari D.; Mari, Frank] Florida Atlantic Univ, Dept Chem & Biochem, Boca Raton, FL 33431 USA.
[Godenschwege, Tanja A.] Florida Atlantic Univ, Dept Biol Sci, Jupiter, FL USA.
RP Godenschwege, TA (reprint author), Florida Atlantic Univ, Dept Biol Sci, John D Mac Arthur Campus, Jupiter, FL USA.
EM godensch@fau.edu
FU National Institute for Neurological Disorders and Stroke [R21NS06637];
Eunice Kennedy Shriver National Institute of Child Health and Human
Development [R01HD050725]
FX This work was funded by the National Institute for Neurological
Disorders and Stroke grant R21NS06637 to F.M. and T.A.G. and the Eunice
Kennedy Shriver National Institute of Child Health and Human Development
R01HD050725 to T.A.G. The funders had no role in study design, data
collection and analysis, decision to publish, or preparation of the
manuscript.
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TC 2
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PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD MAY 30
PY 2013
VL 8
IS 5
AR e64685
DI 10.1371/journal.pone.0064685
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 177SC
UT WOS:000321394700058
PM 23737994
ER
PT J
AU Jokiranta, E
Brown, AS
Heinimaa, M
Cheslack-Postava, K
Suominen, A
Sourander, A
AF Jokiranta, Elina
Brown, Alan S.
Heinimaa, Markus
Cheslack-Postava, Keely
Suominen, Auli
Sourander, Andre
TI Parental psychiatric disorders and autism spectrum disorders
SO PSYCHIATRY RESEARCH
LA English
DT Article
DE Schizophrenia; Affective; Childhood autism; Asperger's syndrome;
Pervasive developmental disorders-unspecified; Risk factors;
Epidemiology
ID FINNISH PERINATAL HEALTH; ASPERGER-SYNDROME; BIPOLAR DISORDER;
INFANTILE-AUTISM; CONDUCT PROBLEMS; RISK-FACTORS; FOLLOW-UP;
SOCIOECONOMIC DIFFERENCES; CHILDHOOD AUTISM; BIRTH COHORT
AB The present population-based, case-control study examines associations between specific parental psychiatric disorders and autism spectrum disorders (ASD) including childhood autism, Asperger's syndrome and pervasive developmental disorder (PDD-NOS). The cohort includes 4713 children born between 1987 and 2005 with diagnoses of childhood autism, Asperger's syndrome or PDD-NOS. Cases were ascertained from the Finnish Hospital Discharge Register, and each was matched to four controls by gender, date of birth, place of birth, and residence in Finland. Controls were selected from the Finnish Medical Birth Register. Parents were identified through the Finnish Medical Birth Register and Finnish Central Population Register. Parental psychiatric diagnoses from inpatient care were collected from the Finnish Hospital Discharge Register. Conditional logistic regression models were used to assess whether parents' psychiatric disorders predicted ASD after controlling for parents' age, smoking during pregnancy and weight for gestational age. In summary, parental schizophrenia spectrum disorders and affective disorders were associated with the risk of ASD regardless of the subgroup. PDD-NOS was associated with all parental psychiatric disorders investigated. Further studies are needed to replicate these findings. These results may facilitate the investigation of shared genetic and familial factors between ASD and other psychiatric disorders. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
C1 [Jokiranta, Elina; Suominen, Auli; Sourander, Andre] Univ Turku, Dept Child Psychiat, Turku 20014, Finland.
[Jokiranta, Elina; Suominen, Auli; Sourander, Andre] Turku Univ Hosp, FIN-20520 Turku, Finland.
[Brown, Alan S.; Sourander, Andre] Columbia Univ, Dept Psychiat, New York State Psychiat Inst, Dept Psychiat,Mailman Sch Publ Hlth, New York, NY USA.
[Heinimaa, Markus] Univ Turku, Dept Psychiat, Turku 20014, Finland.
[Cheslack-Postava, Keely] Columbia Univ, Dept Epidemiol, Mailman Sch Publ Hlth, New York, NY USA.
[Sourander, Andre] Univ Tromso, Fac Hlth Sci, RKBU, N-9001 Tromso, Norway.
RP Jokiranta, E (reprint author), Univ Turku, Dept Child Psychiat, Itainen Pitkakatu 1 Varia, Turku 20014, Finland.
EM ekjoki@utu.fi
FU Jane & Aatos Erkko Foundation; Finnish Pediatric Research Foundation;
National Institute for Environmental Health Sciences (NIEHS); National
Institute of Mental Health
FX This study was supported by grants from the Jane & Aatos Erkko
Foundation, and the Finnish Pediatric Research Foundation (E. Jokiranta)
and by the National Institute for Environmental Health Sciences (NIEHS)
and by the National Institute of Mental Health (A. Brown, PI). None of
the funding sources played a role in the conduct of the research.
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World Health Organization, 1977, INT CLASS DIS 9 REV
World Health Organization (WHO), 1992, INT CLASS DIS 10 REV
NR 65
TC 12
Z9 12
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 MAY 30
PY 2013
VL 207
IS 3
BP 203
EP 211
DI 10.1016/j.psychres.2013.01.005
PG 9
WC Psychiatry
SC Psychiatry
GA 165OF
UT WOS:000320492500009
PM 23391634
ER
PT J
AU Ji, WD
Li, T
Pan, YS
Tao, H
Ju, K
Wen, ZJ
Fu, YC
An, ZG
Zhao, Q
Wang, T
He, L
Feng, GY
Yi, QZ
Shi, YY
AF Ji, Weidong
Li, Tao
Pan, Yaosheng
Tao, Hua
Ju, Kang
Wen, Zujia
Fu, Yingchun
An, Zhiguo
Zhao, Qian
Wang, Ti
He, Lin
Feng, Guoyin
Yi, Qizhong
Shi, Yongyong
TI CNTNAP2 is significantly associated with schizophrenia and major
depression in the Han Chinese population
SO PSYCHIATRY RESEARCH
LA English
DT Article
DE Bipolar disorder; Schizophrenia; Major depression; Single nucleotide
polymorphism (SNP); CNTNAP2
ID DISORDERS; PREVALENCE; LINKAGE; SHESIS; GENE
AB CNTNAP2, located on 7q35-36.1, encodes a single-pass transmembrane protein mediating cell-cell interactions in the nervous system. CNTNAP2 has been suggested to play an important role in mental diseases such as autism and language disorder. However, we still do not know whether it also confers risk to major psychiatric disorders such as schizophrenia, major depression and bipolar disorder. We analysed single nucleotide polymorphisms (SNPs) previously reported to be associated with autism or language impairment in 1135 schizophrenia patients, 1135 unrelated major depression patients, 1135 unrelated bipolar disorder patients and 1135 unrelated normal controls recruited from the Han Chinese population. We found that the genotypes of rs17236239 were significantly associated with schizophrenia and the alleles of rs2710102 and rs2710117 were significantly associated with major depression. According to the location of significant signals, our study indicated that exon 13-15 of CNTNAP2 may play important roles in both schizophrenia and major depression in the Han Chinese population. (C) 2012 Elsevier Ireland Ltd. All rights reserved.
C1 [Ji, Weidong; Pan, Yaosheng; Tao, Hua; Ju, Kang; Fu, Yingchun; He, Lin; Shi, Yongyong] Shanghai Changning Mental Hlth Ctr, Shanghai 200042, Peoples R China.
[Ji, Weidong; Li, Tao; Pan, Yaosheng; Tao, Hua; Ju, Kang; Wen, Zujia; Fu, Yingchun; He, Lin; Shi, Yongyong] Shanghai Jiao Tong Univ, Inst Neuropsychiat Sci & Syst Biol Med, Shanghai 200042, Peoples R China.
[Ji, Weidong; Li, Tao; Pan, Yaosheng; Tao, Hua; Ju, Kang; Wen, Zujia; Fu, Yingchun; Zhao, Qian; Wang, Ti; He, Lin; Shi, Yongyong] Shanghai Jiao Tong Univ, Bio X Inst, Key Lab Genet Dev & Neuropsychiat Disorders, Minist Educ, Shanghai 200030, Peoples R China.
[Feng, Guoyin] Shanghai Inst Mental Hlth, Shanghai 200030, Peoples R China.
[Yi, Qizhong] Xinjiang Med Univ, Teaching Hosp 1, Dept Psychiat, Urumqi 830002, Peoples R China.
RP Shi, YY (reprint author), Shanghai Jiao Tong Univ, Bio X Insititutes, Little White Bldg,55 Guangyuan Xi Rd, Shanghai 200030, Peoples R China.
EM shiyongyong@gmail.com
FU Natural Science Foundation of China [81130022, 81272302, 31000553,
81121001]; National 863 project [2012AA02A515]; 973 Program
[2010CB529600]; Program for Changjiang Scholars and Innovative Research
Team in University [IRT1025]; Foundation for the Author of National
Excellent Doctoral Dissertation of China [201026]; Program for New
Century Excellent Talents in University [NCET-09-0550]; Shanghai Science
and Technology Development Funds [12QA1401900]; Shanghai Changning
Health Bureau program [20094Y06001]
FX We warmly thank all patients and healthy individuals who participated in
our study. This work was supported by the Natural Science Foundation of
China (81130022, 81272302, 31000553 and 81121001), the National 863
project (2012AA02A515), the 973 Program (2010CB529600), Program for
Changjiang Scholars and Innovative Research Team in University
(IRT1025), the Foundation for the Author of National Excellent Doctoral
Dissertation of China (201026), the Program for New Century Excellent
Talents in University (NCET-09-0550), Shanghai Science and Technology
Development Funds (12QA1401900) and the Shanghai Changning Health Bureau
program (20094Y06001).
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NR 16
TC 8
Z9 8
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 MAY 30
PY 2013
VL 207
IS 3
BP 225
EP 228
DI 10.1016/j.psychres.2012.09.024
PG 4
WC Psychiatry
SC Psychiatry
GA 165OF
UT WOS:000320492500012
PM 23123147
ER
PT J
AU Freunscht, I
Popp, B
Blank, R
Endele, S
Moog, U
Petri, H
Prott, EC
Reis, A
Rubo, J
Zabel, B
Zenker, M
Hebebrand, J
Wieczorek, D
AF Freunscht, Inga
Popp, Bernt
Blank, Rainer
Endele, Sabine
Moog, Ute
Petri, Holger
Prott, Eva-Christina
Reis, Andre
Ruebo, Jochen
Zabel, Bernhard
Zenker, Martin
Hebebrand, Johannes
Wieczorek, Dagmar
TI Behavioral phenotype in five individuals with de novo mutations within
the GRIN2B gene
SO BEHAVIORAL AND BRAIN FUNCTIONS
LA English
DT Article
DE GRIN2B mutations; Behavior problems; Hyperactivity; Stereotypies;
Intellectual disability
ID AUTISM SPECTRUM DISORDERS; INTELLECTUAL DISABILITY; CRITERION VALIDITY;
MENTAL-RETARDATION; EMOTIONAL-PROBLEMS; TEACHERS RATINGS; CHILDREN;
GLUTAMATE; ASSOCIATION; ADOLESCENTS
AB Background: Intellectual disability (ID) is often associated with behavioral problems or disorders. Mutations in the GRIN2B gene (MRD6, MIM613970) have been identified as a common cause of ID (prevalence of 0.5 - 1% in individuals with ID) associated with EEG and behavioral problems.
Methods: We assessed five GRIN2B mutation carriers aged between 3 and 14 years clinically and via standardized questionnaires to delineate a detailed behavioral phenotype. Parents and teachers rated problem behavior of their affected children by completing the Developmental Behavior Checklist (DBC) and the Conners' Rating Scales Revised (CRS-R:L).
Results: All individuals had mild to severe ID and needed guidance in daily routine. They showed characteristic behavior problems with prominent hyperactivity, impulsivity, distractibility and a short attention span. Stereotypies, sleeping problems and a friendly but boundless social behavior were commonly reported.
Conclusion: Our observations provide an initial delineation of the behavioral phenotype of GRIN2B mutation carriers.
C1 [Freunscht, Inga; Hebebrand, Johannes] Univ Duisburg Essen, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-45147 Essen, Germany.
[Popp, Bernt; Endele, Sabine; Reis, Andre; Zenker, Martin] Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany.
[Blank, Rainer] Kinderzentrum Maulbronn gGmbH, Klin Kinderneurol & Sozialpadiatrie, Maulbronn, Germany.
[Moog, Ute] Heidelberg Univ, Inst Human Genet, Heidelberg, Germany.
[Petri, Holger] DRK Kinderklin, Siegen, Germany.
[Prott, Eva-Christina; Wieczorek, Dagmar] Univ Duisburg Essen, Univ Hosp Essen, Inst Humangenet, Essen, Germany.
[Ruebo, Jochen] St Antonius Hosp Kleve, Klin Kinder & Jugendmed, Kleve, Germany.
[Zabel, Bernhard] Univ Hosp Freiburg, Ctr Pediat & Adolescent Med, Freiburg, Germany.
[Zenker, Martin] Univ Magdeburg, Inst Humangenet, Magdeburg, Germany.
RP Freunscht, I (reprint author), Univ Duisburg Essen, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-45147 Essen, Germany.
EM Inga.Freunscht@lvr.de
RI Reis, Andre/D-2309-2009
OI Reis, Andre/0000-0002-6301-6363
FU German Federal Ministry of Education and Research (BMBF) as a part of
the National Genome Research Network (NGFN) [01GS08164, 01GS0816,
01GS08168]
FX We are grateful to the families for their participation in the study.
The Institutes for Human Genetics Essen, Erlangen and Heidelberg,
Germany, are members of the 'German Mental Retardation Network' (MRNET),
which is funded by the German Federal Ministry of Education and Research
(BMBF) as a part of the National Genome Research Network (NGFN)
(http://www.ngfn.de/en/retardierung.html, project reference numbers
01GS08164, 01GS0816, 01GS08168). We thank Nicholas Wagner for critically
reading this manuscript.
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NR 32
TC 4
Z9 4
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1744-9081
J9 BEHAV BRAIN FUNCT
JI Behav. Brain Funct.
PD MAY 29
PY 2013
VL 9
AR 20
DI 10.1186/1744-9081-9-20
PG 11
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 165UQ
UT WOS:000320511300001
PM 23718928
ER
PT J
AU Kajiume, A
Aoyama-Setoyama, S
Saito-Hori, Y
Ishikawa, N
Kobayashi, M
AF Kajiume, Aiko
Aoyama-Setoyama, Shiori
Saito-Hori, Yuri
Ishikawa, Nobutsune
Kobayashi, Masao
TI Reduced brain activation during imitation and observation of others in
children with pervasive developmental disorder: a pilot study
SO BEHAVIORAL AND BRAIN FUNCTIONS
LA English
DT Article
DE Pervasive developmental disorder; Imitation; Mirror neuron systems;
Near-infrared spectroscopy
ID MIRROR-NEURON SYSTEM; AUTISM SPECTRUM DISORDERS; RECOGNITION;
DYSFUNCTION; HYPOTHESIS
AB Background: Children with pervasive developmental disorder (PDD) are thought to have poor imitation abilities. Recently, this characteristic has been suggested to reflect impairments in mirror neuron systems (MNS). We used near-infrared spectroscopy (NIRS) to examine the brain activity of children with PDD during tasks involving imitation and observations of others.
Findings: The subjects were 6 male children with PDD (8-14 years old) and 6 age- and gender-matched normal subjects (9-13 years old). A video in which a woman was opening and closing a bottle cap was used as a stimulus. Hemoglobin concentration changes around the posterior part of the inferior frontal gyrus and the adjacent ventral premotor cortex were measured with a 24-channel NIRS machine during action observation and action imitation tasks. Regional oxygenated hemoglobin concentration changes were significantly smaller in the PDD group than in the control group. Moreover, these differences were clearer in the action observation task than in the action imitation task.
Conclusions: Dysfunction in the MNS in children with PDD was suggested by the reduced activation in key MNS regions during tasks involving observations and imitations of others. These preliminary results suggest that further studies are needed to verify MNS dysfunction in children with PDD.
C1 [Kajiume, Aiko; Aoyama-Setoyama, Shiori; Ishikawa, Nobutsune; Kobayashi, Masao] Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Minami Ku, Hiroshima 7348551, Japan.
[Saito-Hori, Yuri] Sendai Seiyo Gakuin Collage, Dept Child Studies, Wakabayashi Ku, Sendai, Miyagi 9840022, Japan.
RP Kajiume, A (reprint author), Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Minami Ku, 1-2-3 Kasumi, Hiroshima 7348551, Japan.
EM aimaru@triton.ocn.ne.jp
FU Japan Society for the Promotion of Science (JSPS)
FX This research was supported by the Grants-in-Aid for Scientific Research
by Japan Society for the Promotion of Science (JSPS). We thank children
and their parents for their interested participation. We would like to
thank Dr. Junko Tanaka (Hiroshima University Graduate School of
Biomedical and Health Sciences) for helpful comments about statistical
analysis.
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NR 20
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1744-9081
J9 BEHAV BRAIN FUNCT
JI Behav. Brain Funct.
PD MAY 29
PY 2013
VL 9
AR 21
DI 10.1186/1744-9081-9-21
PG 5
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 157MV
UT WOS:000319901600001
PM 23718943
ER
PT J
AU Davis, DA
Bortolato, M
Godar, SC
Sander, TK
Iwata, N
Pakbin, P
Shih, JC
Berhane, K
McConnell, R
Sioutas, C
Finch, CE
Morgan, TE
AF Davis, David A.
Bortolato, Marco
Godar, Sean C.
Sander, Thomas K.
Iwata, Nahoko
Pakbin, Payam
Shih, Jean C.
Berhane, Kiros
McConnell, Rob
Sioutas, Constantinos
Finch, Caleb E.
Morgan, Todd E.
TI Prenatal Exposure to Urban Air Nanoparticles in Mice Causes Altered
Neuronal Differentiation and Depression-Like Responses
SO PLOS ONE
LA English
DT Article
ID TAIL-SUSPENSION TEST; POLYCYCLIC AROMATIC-HYDROCARBONS; DIESEL EXHAUST
EXPOSURE; N-TERMINAL KINASE; ULTRAFINE PARTICLES; HIPPOCAMPAL-NEURONS;
AXON FORMATION; CITY CHILDREN; LOS-ANGELES; AUTISM
AB Emerging evidence suggests that excessive exposure to traffic-derived air pollution during pregnancy may increase the vulnerability to neurodevelopmental alterations that underlie a broad array of neuropsychiatric disorders. We present a mouse model for prenatal exposure to urban freeway nanoparticulate matter (nPM). In prior studies, we developed a model for adult rodent exposure to re-aerosolized urban nPM which caused inflammatory brain responses with altered neuronal glutamatergic functions. nPMs are collected continuously for one month from a local freeway and stored as an aqueous suspension, prior to re-aerosolization for exposure of mice under controlled dose and duration. This paradigm was used for a pilot study of prenatal nPM impact on neonatal neurons and adult behaviors. Adult C57BL/6J female mice were exposed to re-aerosolized nPM (350 mu g/m(3)) or control filtered ambient air for 10 weeks (3x5 hour exposures per week), encompassing gestation and oocyte maturation prior to mating. Prenatal nPM did not alter litter size, pup weight, or postnatal growth. Neonatal cerebral cortex neurons at 24 hours in vitro showed impaired differentiation, with 50% reduction of stage 3 neurons with long neurites and correspondingly more undifferentiated neurons at Stages 0 and 1. Neuron number after 24 hours of culture was not altered by prenatal nPM exposure. Addition of exogenous nPM (2 mu g/ml) to the cultures impaired pyramidal neuron Stage 3 differentiation by 60%. Adult males showed increased depression-like responses in the tail-suspension test, but not anxiety-related behaviors. These pilot data suggest that prenatal exposure to nPM can alter neuronal differentiation with gender-specific behavioral sequelae that may be relevant to human prenatal exposure to urban vehicular aerosols.
C1 [Davis, David A.; Iwata, Nahoko; Finch, Caleb E.; Morgan, Todd E.] USC, Davis Sch Gerontol, Los Angeles, CA USA.
[Godar, Sean C.; Shih, Jean C.] USC, Sch Pharm, Los Angeles, CA USA.
[Sander, Thomas K.] USC, Dornsife Coll Letters Arts & Sci, Los Angeles, CA USA.
[Pakbin, Payam; Sioutas, Constantinos] USC, Viterbi Sch Engn, Los Angeles, CA USA.
[Finch, Caleb E.] USC, Dornsife Coll, Dept Neurobiol, Los Angeles, CA USA.
[Berhane, Kiros; McConnell, Rob] USC, Keck Sch Med, Los Angeles, CA USA.
[Bortolato, Marco] Univ Kansas, Sch Pharm, Dept Pharmacol & Toxicol, Lawrence, KS 66045 USA.
RP Finch, CE (reprint author), USC, Davis Sch Gerontol, Los Angeles, CA USA.
EM cefinch@usc.edu
FU National Institutes of Health [R21AG040683, R21AG040753, R21HD070611,
P30ES007048, T32AG000037]
FX The authors are grateful for National Institutes of Health support
(R21AG040683, R21AG040753, R21HD070611, P30ES007048). D.A.D. was
supported by NIH grant T32AG000037. The funding agencies had no role in
study design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 57
TC 6
Z9 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 MAY 29
PY 2013
VL 8
IS 5
AR e64128
DI 10.1371/journal.pone.0064128
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 155DJ
UT WOS:000319725500081
PM 23734187
ER
PT J
AU Kuhl, PK
Coffey-Corina, S
Padden, D
Munson, J
Estes, A
Dawson, G
AF Kuhl, Patricia K.
Coffey-Corina, Sharon
Padden, Denise
Munson, Jeffrey
Estes, Annette
Dawson, Geraldine
TI Brain Responses to Words in 2-Year-Olds with Autism Predict
Developmental Outcomes at Age 6
SO PLOS ONE
LA English
DT Article
ID EARLY LANGUAGE-ACQUISITION; EVENT-RELATED POTENTIALS; SPECTRUM
DISORDERS; VOCABULARY GROWTH; CEREBRAL SPECIALIZATION;
PRESCHOOL-CHILDREN; SOCIAL-INTERACTION; SPEECH-PERCEPTION; 2ND YEAR;
INFANTS
AB Autism Spectrum Disorder (ASD) is a developmental disability that affects social behavior and language acquisition. ASD exhibits great variability in outcomes, with some individuals remaining nonverbal and others exhibiting average or above average function. Cognitive ability contributes to heterogeneity in autism and serves as a modest predictor of later function. We show that a brain measure (event-related potentials, ERPs) of word processing in children with ASD, assessed at the age of 2 years (N = 24), is a broad and robust predictor of receptive language, cognitive ability, and adaptive behavior at ages 4 and 6 years, regardless of the form of intensive clinical treatment during the intervening years. The predictive strength of this brain measure increases over time, and exceeds the predictive strength of a measure of cognitive ability, used here for comparison. These findings have theoretical implications and may eventually lead to neural measures that allow early prediction of developmental outcomes as well as more individually tailored clinical interventions, with the potential for greater effectiveness in treating children with ASD.
C1 [Kuhl, Patricia K.; Padden, Denise] Univ Washington, Inst Learning & Brain Sci, Seattle, WA 98195 USA.
[Coffey-Corina, Sharon] Univ Calif Davis, Ctr Mind & Brain, Davis, CA 95616 USA.
[Munson, Jeffrey] Univ Washington, Dept Psychiat, Seattle, WA 98195 USA.
[Estes, Annette] Univ Washington, Dept Speech & Hearing Sci, Seattle, WA 98195 USA.
[Dawson, Geraldine] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA.
[Dawson, Geraldine] Autism Speaks Fdn, New York, NY USA.
RP Kuhl, PK (reprint author), Univ Washington, Inst Learning & Brain Sci, Seattle, WA 98195 USA.
EM pkkuhl@u.washington.edu
FU National Institutes of Health; National Institute of Mental Health
(NIMH) [U54MH066399]; National Institute of Child Health and Human
Development (NICHD) [P50 HD55782]; NIH UW Research Core Grant;
University of Washington [P30 DC04661]
FX This research was supported by the National Institutes of Health
(www.nih.gov), funded by grants from The National Institute of Mental
Health (NIMH) (U54MH066399) and National Institute of Child Health and
Human Development (NICHD) (P50 HD55782). This work was facilitated by
P30 HD02274 from the NICHD and an NIH UW Research Core Grant, University
of Washington P30 DC04661. 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 61
TC 9
Z9 9
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 MAY 29
PY 2013
VL 8
IS 5
AR e64967
DI 10.1371/journal.pone.0064967
PG 13
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 155DJ
UT WOS:000319725500036
PM 23734230
ER
PT J
AU Prehn-Kristensen, A
Munz, M
Molzow, I
Wilhelm, I
Wiesner, CD
Baving, L
AF Prehn-Kristensen, Alexander
Munz, Manuel
Molzow, Ina
Wilhelm, Ines
Wiesner, Christian D.
Baving, Lioba
TI Sleep Promotes Consolidation of Emotional Memory in Healthy Children but
Not in Children with Attention-Deficit Hyperactivity Disorder
SO PLOS ONE
LA English
DT Article
ID AUTISM SPECTRUM DISORDER; SLOW-WAVE ACTIVITY; DEFICIT/HYPERACTIVITY
DISORDER; CORTICAL MATURATION; DECLARATIVE MEMORY; YOUNG-ADULTS; ADHD;
AMYGDALA; METAANALYSIS; ADOLESCENTS
AB Fronto-limbic brain activity during sleep is believed to support the consolidation of emotional memories in healthy adults. Attention deficit-hyperactivity disorder (ADHD) is accompanied by emotional deficits coincidently caused by dysfunctional interplay of fronto-limbic circuits. This study aimed to examine the role of sleep in the consolidation of emotional memory in ADHD in the context of healthy development. 16 children with ADHD, 16 healthy children, and 20 healthy adults participated in this study. Participants completed an emotional picture recognition paradigm in sleep and wake control conditions. Each condition had an immediate (baseline) and delayed (target) retrieval session. The emotional memory bias was baseline-corrected, and groups were compared in terms of sleep-dependent memory consolidation (sleep vs. wake). We observed an increased sleep-dependent emotional memory bias in healthy children compared to children with ADHD and healthy adults. Frontal oscillatory EEG activity (slow oscillations, theta) during sleep correlated negatively with emotional memory performance in children with ADHD. When combining data of healthy children and adults, correlation coefficients were positive and differed from those in children with ADHD. Since children displayed a higher frontal EEG activity than adults these data indicate a decline in sleep-related consolidation of emotional memory in healthy development. In addition, it is suggested that deficits in sleep-related selection between emotional and non-emotional memories in ADHD exacerbate emotional problems during daytime as they are often reported in ADHD.
C1 [Prehn-Kristensen, Alexander; Munz, Manuel; Molzow, Ina; Wiesner, Christian D.; Baving, Lioba] Univ Kiel, Sch Med, Ctr Integrat Psychiat, Dept Child & Adolescent Psychiat & Psychotherapy, Kiel, Germany.
[Wilhelm, Ines] Univ Tubingen, Inst Med Psychol & Behav Neurobiol, Tubingen, Germany.
[Wilhelm, Ines] Univ Childrens Hosp Zurich, Child Dev Ctr, Zurich, Switzerland.
RP Prehn-Kristensen, A (reprint author), Univ Kiel, Sch Med, Ctr Integrat Psychiat, Dept Child & Adolescent Psychiat & Psychotherapy, Kiel, Germany.
EM a.prehn@zip-kiel.de
FU German research foundation [SFB 654]
FX This study was supported by a grant of the German research foundation
(SFB 654, Plasticity and Sleep). 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 72
TC 5
Z9 5
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 MAY 29
PY 2013
VL 8
IS 5
AR e65098
DI 10.1371/journal.pone.0065098
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 155DJ
UT WOS:000319725500031
PM 23734235
ER
PT J
AU Hoy, JL
Haeger, PA
Constable, JRL
Arias, RJ
McCallum, R
Kyweriga, M
Davis, L
Schnell, E
Wehr, M
Castillo, PE
Washbourne, P
AF Hoy, Jennifer L.
Haeger, Paola A.
Constable, John R. L.
Arias, Renee J.
McCallum, Raluca
Kyweriga, Michael
Davis, Lawrence
Schnell, Eric
Wehr, Michael
Castillo, Pablo E.
Washbourne, Philip
TI Neuroligin1 Drives Synaptic and Behavioral Maturation through
Intracellular Interactions
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
ID MORRIS WATER MAZE; AUTISM SPECTRUM DISORDERS; D-ASPARTATE RECEPTORS;
NMDA RECEPTORS; GLUTAMATERGIC SYNAPSES; INHIBITORY SYNAPSES; OBJECT
RECOGNITION; BURST STIMULATION; MOUSE MODEL; MICE
AB In vitro studies suggest that the intracellular C terminus of Neuroligin1 (NL1) could play a central role in the maturation of excitatory synapses. However, it is unknown how this activity affects synapses in vivo, and whether it may impact the development of complex behaviors. To determine how NL1 influences the state of glutamatergic synapses in vivo, we compared the synaptic and behavioral phenotypes of mice overexpressing a full-length version of NL1 (NL1FL) with mice overexpressing a version missing part of the intracellular domain (NL1 Delta C). We show that overexpression of full-length NL1 yielded an increase in the proportion of synapses with mature characteristics and impaired learning and flexibility. In contrast, the overexpression of NL1 Delta C increased the number of excitatory postsynaptic structures and led to enhanced flexibility in mnemonic and social behaviors. Transient overexpression of NL1FL revealed that elevated levels are not necessary to maintain synaptic and behavioral states altered earlier in development. In contrast, overexpression of NL1FL in the fully mature adult was able to impair normal learning behavior after 1 month of expression. These results provide the first evidence that NL1 significantly impacts key developmental processes that permanently shape circuit function and behavior, as well as the function of fully developed neural circuits. Overall, these manipulations of NL1 function illuminate the significance of NL1 intracellular signaling in vivo, and enhance our understanding of the factors that gate the maturation of glutamatergic synapses and complex behavior. This has significant implications for our ability to address disorders such as autism spectrum disorders.
C1 [Hoy, Jennifer L.; Constable, John R. L.; Arias, Renee J.; McCallum, Raluca; Kyweriga, Michael; Wehr, Michael; Washbourne, Philip] Univ Oregon, Inst Neurosci, Eugene, OR 97403 USA.
[Haeger, Paola A.; Castillo, Pablo E.] Albert Einstein Coll Med, Dominick P Purpura Dept Neurosci, Bronx, NY 10461 USA.
[Schnell, Eric] Portland VA Med Ctr, Portland, OR 97239 USA.
[Schnell, Eric] Oregon Hlth & Sci Univ, Dept Anesthesiol & Perioperat Med, Portland, OR 97239 USA.
[Davis, Lawrence] Univ Oregon, Dept Phys, Eugene, OR 97403 USA.
RP Washbourne, P (reprint author), 1254 Univ Oregon, Inst Neurosci, Eugene, OR 97403 USA.
EM pwash@uoneuro.uoregon.edu
RI Kyweriga, Michael/H-3226-2013
OI Kyweriga, Michael/0000-0003-3511-6292
FU National Institute of Neurological Disorders and Stroke [R01 NS065795];
Autism Speaks [1368]; National Institute of Mental Health [R01
MH081935]; American Psychological Association [DPN T32 MH18882-22];
National Science Foundation [GK-12]; Oregon Center for Optics;
Biomedical Sciences Chile; Becas Chile
FX This work was supported by National Institute of Neurological Disorders
and Stroke R01 NS065795 and Autism Speaks 1368 to P.W., by National
Institute of Mental Health R01 MH081935 to P.E.C., the American
Psychological Association DPN T32 MH18882-22 to J.L.H, National Science
Foundation GK-12 program to L.D., and the Oregon Center for Optics to
J.L.H. and L.D.P.A.H. is a PEW Latin American Fellow in the Biomedical
Sciences and Becas Chile recipient. We thank Keith Beadle for
establishing the immunolabeling technique in thinly sectioned brain
tissue; Sheryl Moy (University of North Carolina) for excellent guidance
in conducting the appropriate behavioral tests and initial
characterization of our transgenic mice, and providing critical feedback
on this manuscript; Cris Niell and Victoria Herman for providing
comments on previous versions of this manuscript; Gary Westbrook (OHSU)
for generously providing his lab's reagents and support; Miriam Deutsch
(University of Oregon Physics Department) for providing lab support for
extended data analysis techniques; Shawn Brown and Sebastien Valverde
for technical assistance in preparation of synaptosomal fractions and
Western blot generation; and Sebastien Valverde and Leah Deblander for
additional assistance in training mice in the water maze and social
tasks.
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NR 77
TC 2
Z9 2
PU SOC NEUROSCIENCE
PI WASHINGTON
PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA
SN 0270-6474
J9 J NEUROSCI
JI J. Neurosci.
PD MAY 29
PY 2013
VL 33
IS 22
BP 9364
EP 9384
DI 10.1523/JNEUROSCI.4660-12.2013
PG 21
WC Neurosciences
SC Neurosciences & Neurology
GA 152XV
UT WOS:000319566300014
PM 23719805
ER
PT J
AU Ribeiro, TC
Valasek, CA
Minati, L
Boggio, PS
AF Ribeiro, Tatiane C.
Valasek, Claudia A.
Minati, Ludovico
Boggio, Paulo S.
TI Altered semantic integration in autism beyond language: a cross-modal
event-related potentials study
SO NEUROREPORT
LA English
DT Article
DE autism spectrum disorders; event-related potentials; late positive
potential; music; N400 component; semantic priming
ID BRAIN POTENTIALS; DISORDERS; CHILDREN; VERSION; MUSIC
AB Autism spectrum disorders (ASDs) are characterized by impaired communication, particularly pragmatic and semantic language, resulting in verbal comprehension deficits. Semantic processing in these conditions has been studied extensively, but mostly limited only to linguistic material. Emerging evidence, however, suggests that semantic integration deficits may extend beyond the verbal domain. Here, we explored cross-modal semantic integration using visual targets preceded by musical and linguistic cues. Particularly, we have recorded the event-related potentials to evaluate whether the N400 and late positive potential (LPP) components, two widely studied electrophysiological markers of semantic processing, are differently sensitive to congruence with respect to typically developing children. Seven ASD patients and seven neurotypical participants matched by age, education and intelligence quotient provided usable data. Neuroelectric activity was recorded in response to visual targets that were related or unrelated to a preceding spoken sentence or musical excerpt. The N400 was sensitive to semantic congruence in the controls but not the patients, whereas the LPP showed a complementary pattern. These results suggest that semantic processing in ASD children is also altered in the context of musical and visual stimuli, and point to a functional decoupling between the generators of the N400 and LPP, which may indicate delayed semantic processing. These novel findings underline the importance of exploring semantic integration across multiple modalities in ASDs and provide motivation for further investigation in large clinical samples. NeuroReport 24:414-418 (C) 2013 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.
C1 [Valasek, Claudia A.; Boggio, Paulo S.] Univ Prebiteriana Mackenzie, Ctr Hlth & Biol Sci, Social & Cognit Neurosci Lab, BR-01241001 Sao Paulo, Brazil.
[Valasek, Claudia A.; Boggio, Paulo S.] Univ Prebiteriana Mackenzie, Ctr Hlth & Biol Sci, Dev Disorders Program, BR-01241001 Sao Paulo, Brazil.
[Ribeiro, Tatiane C.] Univ Fed Sao Paulo UNIFESP, Dept Psychiat, Sao Paulo, Brazil.
[Ribeiro, Tatiane C.] Univ Sao Paulo, Dept Psychiat, Sao Paulo, Brazil.
[Minati, Ludovico] Ist Nazl Neurol Carlo Besta, Dept Sci, Milan, Italy.
RP Boggio, PS (reprint author), Univ Prebiteriana Mackenzie, Ctr Hlth & Biol Sci, Social & Cognit Neurosci Lab, 181 Piaui St, BR-01241001 Sao Paulo, Brazil.
EM boggio@mackenzie.br
FU MackPesquisa; Conselho Nacional de Desenvolvimento Cientifico e
Tecnologico [305718/2009-6]; Master Grant [FAPESP 2010/14656-7]
FX This manuscript is dedicated to the memory of friend and coinvestigator
Prof. Marcos T. Mercadante, who contributed to study design and data
acquisition. This research was supported by MackPesquisa. P. S. B. was
supported by Conselho Nacional de Desenvolvimento Cientifico e
Tecnologico (305718/2009-6). C. A. V. was supported by a Master Grant
(FAPESP 2010/14656-7). The authors thank Ana Carolina Alem Giglio and
Lucas Murrins for assistance in the preparation of illustrations.
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NR 19
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0959-4965
J9 NEUROREPORT
JI Neuroreport
PD MAY 29
PY 2013
VL 24
IS 8
BP 414
EP 418
DI 10.1097/WNR.0b013e328361315e
PG 5
WC Neurosciences
SC Neurosciences & Neurology
GA 138XQ
UT WOS:000318545500004
PM 23629689
ER
PT J
AU Wegiel, J
Kuchna, I
Nowicki, K
Imaki, H
Wegiel, J
Ma, SY
Azmitia, EC
Banerjee, P
Flory, M
Cohen, IL
London, E
Brown, WT
Hare, CK
Wisniewski, T
AF Wegiel, Jerzy
Kuchna, Izabela
Nowicki, Krzysztof
Imaki, Humi
Wegiel, Jarek
Ma, Shuang Yong
Azmitia, Efrain C.
Banerjee, Probal
Flory, Michael
Cohen, Ira L.
London, Eric
Brown, W. Ted
Hare, Carolyn Komich
Wisniewski, Thomas
TI Contribution of olivofloccular circuitry developmental defects to
atypical gaze in autism
SO BRAIN RESEARCH
LA English
DT Article
DE Autism; Atypical gaze; Cerebellum; Flocculus; Dysplasia
ID UNIPOLAR BRUSH CELL; DEVELOPING CEREBELLAR CORTEX; DEVELOPING RAT
CEREBELLUM; EYE-MOVEMENT CONTROL; PURKINJE-CELLS; BERGMANN GLIA;
VESTIBULOOCULAR REFLEX; NEURONAL MIGRATION; HEAD MOVEMENTS; STELLATE
CELLS
AB Individuals with autism demonstrate atypical gaze, impairments in smooth pursuit, altered movement perception and deficits in facial perception. The olivofloccular neuronal circuit is a major contributor to eye movement control. This study of the cerebellum in 12 autistic and 10 control subjects revealed dysplastic changes in the flocculus of eight autistic (67%) and two control (20%) subjects. Defects of the oculomotor system, including avoidance of eye contact and poor or no eye contact, were reported in 88% of autistic subjects with postmortem-detected floccular dysplasia. Focal disorganization of the flocculus cytoarchitecture with deficit, altered morphology, and spatial disorientation of Purkinje cells (PCs); deficit and abnormalities of granule, basket, stellate and unipolar brush cells; and structural defects and abnormal orientation of Bergmann glia are indicators of profound disruption of flocculus circuitry in a dysplastic area. The average volume of PCs was 26% less in the dysplastic region than in the unaffected region of the flocculus (p<0.01) in autistic subjects. Moreover, the average volume of PCs in the entire cerebellum was 25% less in the autistic subjects than in the control subjects (p<0.001). Findings from this study and a parallel study of the inferior olive (IO) suggest that focal floccular dysplasia combined with IO neurons and PC developmental defects may contribute to oculomotor system dysfunction and atypical gaze in autistic subjects. Published by Elsevier B.V.
C1 [Wegiel, Jerzy; Kuchna, Izabela; Nowicki, Krzysztof; Imaki, Humi; Wegiel, Jarek; Ma, Shuang Yong] New York State Inst Basic Res Dev Disabil, Dept Dev Neurobiol, Staten Isl, NY 10314 USA.
[Azmitia, Efrain C.] NYU, Dept Biol Psychiat & CNS, New York, NY USA.
[Banerjee, Probal] CUNY Coll Staten Isl, Neurosci Program, Staten Isl, NY USA.
[Flory, Michael; Cohen, Ira L.; London, Eric] New York State Inst Basic Res Dev Disabil, Dept Psychol, Staten Isl, NY 10314 USA.
[Brown, W. Ted] New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USA.
[Hare, Carolyn Komich] Autism Speaks, Autism Tissue Program, Princeton, NJ USA.
[Wisniewski, Thomas] NYU, Dept Neurol, Sch Med, New York, NY 10016 USA.
[Wisniewski, Thomas] NYU, Dept Pathol, Sch Med, New York, NY 10016 USA.
[Wisniewski, Thomas] NYU, Dept Psychiat, Sch Med, New York, NY 10016 USA.
RP Wegiel, J (reprint author), New York State Inst Basic Res Dev Disabil, Dept Dev Neurobiol, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA.
EM jerzy.wegiel@opwdd.ny.gov
FU New York State Office for People with Developmental Disabilities;
Department of Defense Autism Spectrum Disorders Research Program
[AS073234]; Autism Speaks (Princeton); PHS [R24-MH 068855]; Brain and
Tissue Bank for Developmental Disorders of the National Institute of
Child Health and Human Development at the University of Maryland; Brain
and Tissue Bank at the New York State Institute for Basic Research in
Developmental Disabilities, Staten Island, NY
FX This study was supported in part by funds from the New York State Office
for People with Developmental Disabilities, a grant from the Department
of Defense Autism Spectrum Disorders Research Program (AS073234; J.W.,
T.W.), and a grant from Autism Speaks (Princeton, N.J.; J.W.). Tissue
and clinical records acquisition was coordinated by The Autism Tissue
Program (Princeton; Director: Jane Pickett, Ph.D.). The tissue was
obtained from the Harvard Brain Tissue Resource Center, Belmont, MA,
supported in part by PHS grant number R24-MH 068855, the Brain and
Tissue Bank for Developmental Disorders of the National Institute of
Child Health and Human Development at the University of Maryland, and
the Brain and Tissue Bank at the New York State Institute for Basic
Research in Developmental Disabilities, Staten Island, NY.
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NR 92
TC 7
Z9 7
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
J9 BRAIN RES
JI Brain Res.
PD MAY 28
PY 2013
VL 1512
BP 106
EP 122
DI 10.1016/j.brainres.2013.03.037
PG 17
WC Neurosciences
SC Neurosciences & Neurology
GA 160AG
UT WOS:000320087800011
PM 23558308
ER
PT J
AU Theodoridou, A
Rowe, AC
Mohr, C
AF Theodoridou, Angeliki
Rowe, Angela C.
Mohr, Christine
TI Men perform comparably to women in a perspective taking task after
administration of intranasal oxytocin but not after placebo
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE oxytocin; empathy; perspective taking; sex differences; self-report
ID EMPATHY ALTRUISM HYPOTHESIS; OWN-BODY TRANSFORMATIONS; HIGH-FUNCTIONING
AUTISM; ADRENAL AXIS RESPONSES; SEX-DIFFERENCES; IMAGINED
TRANSFORMATIONS; INDIVIDUAL-DIFFERENCES; PSYCHOSOCIAL STRESS;
HEALTHY-VOLUNTEERS; EMOTIONAL EMPATHY
AB Oxytocin (OT) is thought to play an important role in human interpersonal information processing and behavior. By inference, OT should facilitate empathic responding, i.e., the ability to feel for others and to take their perspective. In two independent double-blind, placebo-controlled between-subjects studies, we assessed the effect of intranasally administered OT on affective empathy and perspective taking, whilst also examining potential sex differences (e.g., women being more empathic than men). In study 1, we provided 96 participants (48 men) with an empathy scenario and recorded self-reports of empathic reactions to the scenario, while in study 2, a sample of 120 individuals (60 men) performed a computerized implicit perspective taking task. Whilst results from Study 1 showed no influence of OT on affective empathy, we found in Study 2 that OT exerted an effect on perspective taking ability in men. More specifically, men responded faster than women in the placebo group but they responded as slowly as women in the OT group. We conjecture that men in the OT group adopted a social perspective taking strategy, such as did women in both groups, but not men in the placebo group. On the basis of results across both studies, we suggest that self-report measures (such as used in Study 1) might be less sensitive to OT effects than more implicit measures of empathy such as that used in Study 2. If these assumptions are confirmed, one could infer that OT effects on empathic responses are more pronounced in men than women, and that any such effect is best studied using more implicit measures of empathy rather than explicit self-report measures.
C1 [Theodoridou, Angeliki; Rowe, Angela C.] Univ Bristol, Sch Expt Psychol, Bristol BS8 1TU, Avon, England.
[Mohr, Christine] Univ Lausanne, Inst Psychol, Lausanne, Switzerland.
RP Theodoridou, A (reprint author), Univ Bristol, Sch Expt Psychol, 12A Priory Rd, Bristol BS8 1TU, Avon, England.
EM at4194@bristol.ac.uk
FU ESRC
FX We wish to thank the ESRC for funding this study in way of a studentship
to the lead author, Angeliki Theodoridou. We also thank Professor
Stafford Lightman and Professor Peter Rogers for offering protocol
advice, and Professor Markus Heinrichs and Dr. Bernadette von Dawans for
helping us source study materials. We are also grateful to Sophie and
Ken for posing as models for our perspective taking task.
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NR 110
TC 6
Z9 6
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 MAY 27
PY 2013
VL 7
AR 197
DI 10.3389/fnhum.2013.00197
PG 11
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA 151HW
UT WOS:000319452300001
PM 23754995
ER
PT J
AU Mrozek-Budzyn, D
Kieltyka, A
Majewska, R
Augustyniak, M
AF Mrozek-Budzyn, Dorota
Kieltyka, Agnieszka
Majewska, Renata
Augustyniak, Malgorzata
TI Measles, mumps and rubella (MMR) vaccination has no effect on cognitive
development in children - The results of the Polish prospective cohort
study
SO VACCINE
LA English
DT Article
DE Children; MMR vaccine; Cognitive development
ID PRENATAL EXPOSURE; AUTISM; CHILDHOOD; DISORDERS; VACCINES
AB Objectives: The aim of the study was to examine the hypothesis that MMR exposure has a negative influence on cognitive development in children. Furthermore, MMR was compared to single measles vaccine to determine the potential difference of these vaccines safety regarding children's cognitive development.
Methods: The prospective birth cohort study with sample consisted of 369 infants born in Krakow. Vaccination history against measles (date and the type of the vaccine) was extracted from physicians' records. Child development was assessed using the Bayley Scales of Infant Development (BSID-II) up to 3rd year of life, Raven test in 5th and 8th year and Wechsler (WISC-R) in 6th and 7th year. Data on possible confounders came from mothers' interview, medical records and analyses of lead and mercury level at birth and at the end of 5th year of life. Linear and logistic regression models adjusted for potential confounders were used to assess the association.
Results: No significant differences in cognitive and intelligence tests results were observed between children vaccinated with MMR and those not vaccinated up to the end of the 2nd year of life. Children vaccinated with MMR had significantly higher Mental BSID-II Index (MDI) in the 36th month than those vaccinated with single measles vaccine (103.8 +/- 10.3 vs. 97.2 +/- 11.2, p = 0.004). Neither results of Raven test nor WISC-R were significantly different between groups of children vaccinated with MMR and with single measles vaccine. After standardization to child's gender, maternal education, family economical status, maternal IQ, birth order and passive smoking all developmental tests were statistically insignificant.
Conclusion: The results suggest that there is no relationship between MMR exposure and children's cognitive development. Furthermore, the safety of triple MMR is the same as the single measles vaccine with respect to cognitive development. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Mrozek-Budzyn, Dorota; Kieltyka, Agnieszka; Majewska, Renata; Augustyniak, Malgorzata] Jagiellonian Univ, Coll Med, PL-31034 Krakow, Poland.
RP Mrozek-Budzyn, D (reprint author), Jagiellonian Univ, Coll Med, Kopernika 7A, PL-31034 Krakow, Poland.
EM dorota.mrozek-budzyn@uj.edu.pl; mykielty@cyf-kr.edu.pl;
rmajewska@cm-uj.krakow.pl; malgorzata.augustyniak@uj.edu.pl
FU NIEHS [R01ES010165, R01ES015282]; Lundin Foundation; John and Wendy Neu
Family Foundation; Gladys and Roland Harriman Foundation
FX The study received funding from a NIEHS R01 grants entitled
"Vulnerability of the Fetus/Infant to PAH, PM2.5 and ETS" and
"Developmental effects of early-life exposure to airborne PAH"
(R01ES010165 and R01ES015282) and from The Lundin Foundation, The John
and Wendy Neu Family Foundation, and The Gladys and Roland Harriman
Foundation. Principal investigator: Prof. FP Perera; co-investigator:
Prof. W Jedrychowski.
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World Health Organization, WHO VACC PREV DIS MO
NR 33
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 0264-410X
J9 VACCINE
JI Vaccine
PD MAY 24
PY 2013
VL 31
IS 22
BP 2551
EP 2557
DI 10.1016/j.vaccine.2013.03.057
PG 7
WC Immunology; Medicine, Research & Experimental
SC Immunology; Research & Experimental Medicine
GA 165PE
UT WOS:000320495000003
PM 23588083
ER
PT J
AU Enticott, PG
Kennedy, HA
Rinehart, NJ
Bradshaw, JL
Tonge, BJ
Daskalakis, ZJ
Fitzgerald, PB
AF Enticott, Peter G.
Kennedy, Hayley A.
Rinehart, Nicole J.
Bradshaw, John L.
Tonge, Bruce J.
Daskalakis, Zafiris J.
Fitzgerald, Paul B.
TI Interpersonal motor resonance in autism spectrum disorder: evidence
against a global "mirror system" deficit
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE mirror neurons; interaction; transcranial magnetic stimulation; primary
motor cortex; electromyography
ID NEURON SYSTEM; EXCITABILITY; DYSFUNCTION; PERCEPTION; MODULATION;
FACILITATION; INDIVIDUALS; IMPAIRMENTS; ACTIVATION; CHILDREN
AB The mirror neuron hypothesis of autism is highly controversial, in part because there are conflicting reports as to whether putative indices of mirror system activity are actually deficient in autism spectrum disorder (ASD). Recent evidence suggests that a typical putative mirror system response may be seen in people with an ASD when there is a degree of social relevance to the visual stimuli used to elicit that response. Individuals with ASD (n = 32) and matched neurotypical controls (n = 32) completed a transcranial magnetic stimulation (TMS) experiment in which the left primary motor cortex (M1) was stimulated during the observation of static hands, individual (i.e., one person) hand actions, and interactive (i.e., two person) hand actions. Motor-evoked potentials (MEP) were recorded from the contralateral first dorsal interosseous, and used to generate an index of interpersonal motor resonance (IMR; a putative measure of mirror system activity) during action observation. There was no difference between ASD and NT groups in the level of IMR during the observation of these actions. These findings provide evidence against a global mirror system deficit in ASD, and this evidence appears to extend beyond stimuli that have social relevance. Attentional and visual processing influences may be important for understanding the apparent role of IMR in the pathophysiology of ASD.
C1 [Enticott, Peter G.; Kennedy, Hayley A.; Fitzgerald, Paul B.] Monash Univ, Alfred & Cent Clin Sch, Monash Alfred Psychiat Res Ctr, Melbourne, Vic 3004, Australia.
[Enticott, Peter G.; Rinehart, Nicole J.; Bradshaw, John L.; Tonge, Bruce J.] Monash Univ, Sch Psychol & Psychiat, Ctr Dev Psychiat & Psychol, Clayton, Vic, Australia.
[Daskalakis, Zafiris J.] Univ Toronto, Ctr Addict & Mental Hlth, Toronto, ON, Canada.
RP Enticott, PG (reprint author), Monash Alfred Psychiat Res Ctr, Level 4,607 St Kilda Rd, Melbourne, Vic 3004, Australia.
EM peter.enticott@monash.edu
RI Daskalakis, Zafiris/J-5503-2013
OI Daskalakis, Zafiris/0000-0001-9502-0538
FU National Health and Medical Research Council (NHMRC, Australia) Project
Grant [545811]; NHMRC Clinical Training Fellowship; Canadian Institutes
of Health Research Clinician Scientist Award; NHMRC Practitioner
Fellowship; National Alliance for Research on Schizophrenia and
Depression Lieber Young Investigator award
FX The authors wish to thank all those who took part in the study and those
who assisted with participant recruitment, including Prof. Tony Attwood,
Ms. Tracel Devereux (Alpha Autism), Dr. Richard Eisenmajer, Mr. Dennis
Freeman (Wesley College Melbourne), Ms. Pam Langford, Dr. Kerryn
Saunders, Ms. Linke Smedts-Kreskas (Supporting Parents of Children with
Autism and Asperger's Syndrome, Community Living and Respite Services
Inc.), Autism Victoria, Autism Asperger's Advocacy Australia, Autism
Spectrum Australia, and the Asperger Syndrome Support Network. The
authors also wish to thank Mrs. Felina Theburge for assisting with
stimulus production, and Dr. Bernadette Fitzgibbon and Ms. Sara Arnold
for their helpful comments on the manuscript. This work was supported by
a National Health and Medical Research Council (NHMRC, Australia)
Project Grant (545811). Peter G. Enticott is supported by a NHMRC
Clinical Training Fellowship. Zafiris J. Daskalakis is supported by a
Canadian Institutes of Health Research Clinician Scientist Award and by
Constance and Stephen Lieber through a National Alliance for Research on
Schizophrenia and Depression Lieber Young Investigator award. Paul B.
Fitzgerald is supported by a NHMRC Practitioner Fellowship.
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NR 47
TC 7
Z9 7
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 MAY 23
PY 2013
VL 7
AR 218
DI 10.3389/fnhum.2013.00218
PG 8
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA 149OS
UT WOS:000319331000001
PM 23734121
ER
PT J
AU O'Connell, G
Christakou, A
Haffey, AT
Chakrabarti, B
AF O'Connell, Garret
Christakou, Anastasia
Haffey, Anthony T.
Chakrabarti, Bhismadev
TI The role of empathy in choosing rewards from another's perspective
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE empathy; reward; temporal discounting; social distance; simulation
ID PRISONERS-DILEMMA GAME; PREFRONTAL CORTEX; NEURAL RESPONSES; SOCIAL
ANXIETY; DELAY; OTHERS; IMPULSIVITY; CHOICE; AUTISM; INTELLIGENCE
AB As social animals, we regularly act in the interest of others by making decisions on their behalf. These decisions can take the form of choices between smaller short-term rewards and larger long-term rewards, and can be effectively indexed by temporal discounting (TD). In a TD paradigm, a reward loses subjective value with increasing delay presumably because it becomes more difficult to simulate how much the recipient (e.g., future self) will value it. If this is the case, then the value of delayed rewards should be discounted even more steeply when we are choosing for someone whose feelings we do not readily simulate, such as socially distant strangers. Second, the ability to simulate shows individual differences and is indexed by trait empathy. We hypothesized that individuals high in trait empathy will more readily simulate, and hence discount less steeply for distant others, compared to those who are low on trait empathy. To test these predictions, we asked 63 participants from the general population to perform a TD task from the perspectives of close and distant others, as well as their own. People were found to discount less steeply for themselves, and the steepness of TD increased with increasing distance from self. Additionally, individuals who scored high in trait empathy were found to discount less steeply for distant others compared to those who scored low. These findings confirm the role of empathy in determining how we choose rewards for others.
C1 [O'Connell, Garret; Christakou, Anastasia; Haffey, Anthony T.; Chakrabarti, Bhismadev] Univ Reading, Sch Psychol & Clin Language Sci, Ctr Integrat Neurosci & Neurodynam, Reading RG6 6AL, Berks, 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
RI Christakou, Anastasia/B-7838-2008
OI Christakou, Anastasia/0000-0002-4267-3436
FU University of Reading doctoral studentship; Human Frontier Science
Program; Medical Research Council UK
FX Garret O'Connell is supported by a University of Reading doctoral
studentship. Anastasia Christakou is supported by the Human Frontier
Science Program. Anthony T. Haffey and Bhismadev Chakrabarti are
supported by the Medical Research Council UK.
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NR 44
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 MAY 23
PY 2013
VL 7
AR 174
DI 10.3389/fnhum.2013.00174
PG 5
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA 149NV
UT WOS:000319328600001
PM 23734112
ER
PT J
AU Sarachana, T
Hu, VW
AF Sarachana, Tewarit
Hu, Valerie W.
TI Genome-wide identification of transcriptional targets of RORA reveals
direct regulation of multiple genes associated with autism spectrum
disorder
SO MOLECULAR AUTISM
LA English
DT Article
DE RORA; Autism; Nuclear hormone receptor; Transcriptional targets;
Chromatin immunoprecipitation; Promoter microarray
ID COPY-NUMBER VARIATION; ORPHAN NUCLEAR RECEPTOR; STAGGERER MUTANT MICE;
CEREBELLAR DEVELOPMENT; NEURONAL DEVELOPMENT; MENTAL-RETARDATION;
ABNORMAL-BEHAVIOR; ASPERGER-SYNDROME; OXIDATIVE STRESS; FRONTAL-CORTEX
AB Background: We have recently identified the nuclear hormone receptor RORA (retinoic acid-related orphan receptor-alpha) as a novel candidate gene for autism spectrum disorder (ASD). Our independent cohort studies have consistently demonstrated the reduction of RORA transcript and/or protein levels in blood-derived lymphoblasts as well as in the postmortem prefrontal cortex and cerebellum of individuals with ASD. Moreover, we have also shown that RORA has the potential to be under negative and positive regulation by androgen and estrogen, respectively, suggesting the possibility that RORA may contribute to the male bias of ASD. However, little is known about transcriptional targets of this nuclear receptor, particularly in humans.
Methods: Here we identify transcriptional targets of RORA in human neuronal cells on a genome-wide level using chromatin immunoprecipitation (ChIP) with an anti-RORA antibody followed by whole-genome promoter array (chip) analysis. Selected potential targets of RORA were then validated by an independent ChIP followed by quantitative PCR analysis. To further demonstrate that reduced RORA expression results in reduced transcription of RORA targets, we determined the expression levels of the selected transcriptional targets in RORA-deficient human neuronal cells, as well as in postmortem brain tissues from individuals with ASD who exhibit reduced RORA expression.
Results: The ChIP-on-chip analysis reveals that RORA1, a major isoform of RORA protein in human brain, can be recruited to as many as 2,764 genomic locations corresponding to promoter regions of 2,544 genes across the human genome. Gene ontology analysis of this dataset of genes that are potentially directly regulated by RORA1 reveals statistically significant enrichment in biological functions negatively impacted in individuals with ASD, including neuronal differentiation, adhesion and survival, synaptogenesis, synaptic transmission and plasticity, and axonogenesis, as well as higher level functions such as development of the cortex and cerebellum, cognition, memory, and spatial learning. Independent ChIP-quantitative PCR analyses confirm binding of RORA1 to promoter regions of selected ASD-associated genes, including A2BP1, CYP19A1, ITPR1, NLGN1, and NTRK2, whose expression levels (in addition to HSD17B10) are also decreased in RORA1-repressed human neuronal cells and in prefrontal cortex tissues from individuals with ASD.
Conclusions: Findings from this study indicate that RORA transcriptionally regulates A2BP1, CYP19A1, HSD17B10, ITPR1, NLGN1, and NTRK2, and strongly suggest that reduction of this sex hormone-sensitive nuclear receptor in the brain causes dysregulated expression of these ASD-relevant genes as well as their associated pathways and functions which, in turn, may contribute to the underlying pathobiology of ASD.
C1 [Sarachana, Tewarit; Hu, Valerie W.] George Washington Univ, Sch Med & Hlth Sci, Dept Biochem & Mol Med, Washington, DC 20037 USA.
RP Hu, VW (reprint author), George Washington Univ, Sch Med & Hlth Sci, Dept Biochem & Mol Med, 2300 I St NW, Washington, DC 20037 USA.
EM valhu@gwu.edu
FU The George Washington University; Office of the Commission on Higher
Education of the Royal Thai Government, Thailand, through Faculty of
Allied Health Sciences, Chulalongkorn University
FX This study was supported in part by a generous gift from the LIFE
Foundation (Aspen, CO, USA) and by an intramural grant from The George
Washington University (Medical Faculty Associates award). Neither of the
funding sources played any role in the study design, collection,
analysis, and interpretation of data, writing of the manuscript, or
decision to submit this study for publication. TS was a predoctoral
student in the Institute for Biomedical Sciences at the George
Washington University, who was supported by the Higher Educational
Strategic Scholarship for Frontier Research Network (SFR scholarship)
from the Office of the Commission on Higher Education of the Royal Thai
Government, Thailand, through the Faculty of Allied Health Sciences,
Chulalongkorn University.
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NR 105
TC 8
Z9 8
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 MAY 22
PY 2013
VL 4
AR 14
DI 10.1186/2040-2392-4-14
PG 19
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA 254VD
UT WOS:000327195600001
PM 23697635
ER
PT J
AU Andersen, PN
Hovik, KT
Skogli, EW
Egeland, J
Oie, M
AF Andersen, Per Normann
Hovik, Kjell Tore
Skogli, Erik Winther
Egeland, Jens
Oie, Merete
TI Symptoms of ADHD in Children with High-Functioning Autism Are Related to
Impaired Verbal Working Memory and Verbal Delayed Recall
SO PLOS ONE
LA English
DT Article
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY
DISORDER; PERVASIVE DEVELOPMENTAL DISORDERS; SCHOOL-AGE-CHILDREN;
SPECTRUM DISORDERS; ASPERGER-SYNDROME; LEARNING TEST; ADOLESCENTS;
PERFORMANCE; VALIDITY
AB Symptoms similar to those found in Attention-Deficit/ Hyperactivity Disorder (ADHD) often occur in children with Autism Spectrum Disorders (ASD). The objective of the current study was to compare verbal working memory, acquisition and delayed recall in children with High-Functioning Autism (HFA) to children with ADHD and typically developing children (TDC). Thirty-eight children with HFA, 79 with ADHD and 50 TDC (age 8-17) were assessed with a letter/number sequencing task and a verbal list-learning task. To investigate the possible influence of attention problems in children with HFA, we divided the HFA group into children with (HFA+) or without (HFA2) "attention problems'' according to the Child Behaviour Checklist 6-18. The children with HFA+ displayed significant impairment compared to TDC on all three neurocognitive measures, while the children with HFA2 were significantly impaired compared to TDC only on the working memory and acquisition measures. In addition, the HFA+ group scored significantly below the HFA2 group and the ADHD group on the verbal working memory and delayed recall measures. The results support the proposition that children with HFA+, HFA2, and ADHD differ not only on a clinical level but also on a neurocognitive level which may have implications for treatment.
C1 [Andersen, Per Normann; Hovik, Kjell Tore; Skogli, Erik Winther; Oie, Merete] Innlandet Hosp Trust, Div Mental Hlth Care, Lillehammer, Norway.
[Andersen, Per Normann; Hovik, Kjell Tore; Skogli, Erik Winther; Egeland, Jens; Oie, Merete] Univ Oslo, Inst Psychol, Oslo, Norway.
[Egeland, Jens] Vestfold Hosp Trust, Div Mental Hlth & Addict, Tonsberg, Norway.
RP Andersen, PN (reprint author), Innlandet Hosp Trust, Div Mental Hlth Care, Lillehammer, Norway.
EM per.normann.andersen@sykehuset-innlandet.no
FU Innlandet Hospital Trust [150170]; Regional Resource Center for Autism;
ADHD; Tourette's syndrome; Narcolepsy; Oslo University Hospital [150182]
FX The work was supported by grants from Innlandet Hospital Trust,
www.sykehuset-innlandet.no, (grant number 150170) and from Regional
Resource Center for Autism, ADHD, Tourette's syndrome, and Narcolepsy,
Oslo University Hospital http://www.oslo-universitetssykehus.
no/omoss/avdelinger/rfm/Sider/ enhet.aspx (grant number 150182). The
funders had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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NR 54
TC 4
Z9 4
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD MAY 22
PY 2013
VL 8
IS 5
AR e64842
DI 10.1371/journal.pone.0064842
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 163UP
UT WOS:000320362700177
PM 23717667
ER
PT J
AU Mosconi, MW
Luna, B
Kay-Stacey, M
Nowinski, CV
Rubin, LH
Scudder, C
Minshew, N
Sweeney, JA
AF Mosconi, Matthew W.
Luna, Beatriz
Kay-Stacey, Margaret
Nowinski, Caralynn V.
Rubin, Leah H.
Scudder, Charles
Minshew, Nancy
Sweeney, John A.
TI Saccade Adaptation Abnormalities Implicate Dysfunction of
Cerebellar-Dependent Learning Mechanisms in Autism Spectrum Disorders
(ASD)
SO PLOS ONE
LA English
DT Article
ID PURKINJE-CELLS; SUPERIOR COLLICULUS; OCULOMOTOR VERMIS;
INFANTILE-AUTISM; EYE-MOVEMENTS; COMMUNICATION DEFICITS; ADAPTIVE
MODIFICATION; POSTERIOR-FOSSA; MOTOR; CHILDREN
AB The cerebellar vermis (lobules VI-VII) has been implicated in both postmortem and neuroimaging studies of autism spectrum disorders (ASD). This region maintains the consistent accuracy of saccadic eye movements and plays an especially important role in correcting systematic errors in saccade amplitudes such as those induced by adaptation paradigms. Saccade adaptation paradigms have not yet been used to study ASD. Fifty-six individuals with ASD and 53 age-matched healthy controls performed an intrasaccadic target displacement task known to elicit saccadic adaptation reflected in an amplitude reduction. The rate of amplitude reduction and the variability of saccade amplitude across 180 adaptation trials were examined. Individuals with ASD adapted slower than healthy controls, and demonstrated more variability of their saccade amplitudes across trials prior to, during and after adaptation. Thirty percent of individuals with ASD did not significantly adapt, whereas only 6% of healthy controls failed to adapt. Adaptation rate and amplitude variability impairments were related to performance on a traditional neuropsychological test of manual motor control. The profile of impaired adaptation and reduced consistency of saccade accuracy indicates reduced neural plasticity within learning circuits of the oculomotor vermis that impedes the fine-tuning of motor behavior in ASD. These data provide functional evidence of abnormality in the cerebellar vermis that converges with previous reports of cellular and gross anatomic dysmorphology of this brain region in ASD.
C1 [Mosconi, Matthew W.; Sweeney, John A.] Univ Texas Southwestern, Dept Psychiat, Dallas, TX USA.
[Mosconi, Matthew W.; Sweeney, John A.] Univ Texas Southwestern, Dept Pediat, Dallas, TX USA.
[Luna, Beatriz] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA USA.
[Luna, Beatriz] Univ Pittsburgh, Sch Med, Dept Psychol, Pittsburgh, PA USA.
[Kay-Stacey, Margaret] Northwestern Univ, Feinberg Sch Med, Dept Neurol, Chicago, IL USA.
[Nowinski, Caralynn V.] Univ Illinois, Off Vice President Res, Urbana, IL 61801 USA.
[Rubin, Leah H.] Univ Illinois, Dept Psychiat, Chicago, IL 60612 USA.
[Scudder, Charles] Univ Pittsburgh, Sch Med, Dept Otolaryngol, Pittsburgh, PA USA.
[Scudder, Charles] Univ Pittsburgh, Sch Med, Dept Neurobiol, Pittsburgh, PA USA.
[Minshew, Nancy] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA USA.
[Minshew, Nancy] Univ Pittsburgh, Sch Med, Dept Neurol, Pittsburgh, PA 15261 USA.
RP Mosconi, MW (reprint author), Univ Texas Southwestern, Dept Psychiat, Dallas, TX USA.
EM Matt.Mosconi@UTSouthwestern.edu
FU NIMH [MH092696]; NICHD Collaborative Program of Excellence in Autism
[HD35469]; Autism Center of Excellence [HD055751, HD055748]; Autism
Speaks and the National Alliance for Autism Research
FX This study was supported by NIMH MH092696, the NICHD Collaborative
Program of Excellence in Autism HD35469, Autism Center of Excellence
awards HD055751 and HD055748, Autism Speaks and the National Alliance
for Autism Research. The funders had no role in study design, data
collection and analysis, decision to publish, or preparation of the
manuscript.
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NR 91
TC 11
Z9 11
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 MAY 21
PY 2013
VL 8
IS 5
AR e63709
DI 10.1371/journal.pone.0063709
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 149OK
UT WOS:000319330200065
PM 23704934
ER
PT J
AU Romano, E
Michetti, C
Caruso, A
Laviola, G
Scattoni, ML
AF Romano, Emilia
Michetti, Caterina
Caruso, Angela
Laviola, Giovanni
Scattoni, Maria Luisa
TI Characterization of Neonatal Vocal and Motor Repertoire of Reelin Mutant
Mice
SO PLOS ONE
LA English
DT Article
ID MOUSE MODEL; NEUROBEHAVIORAL DEVELOPMENT; ULTRASONIC VOCALIZATIONS;
BEHAVIORAL-PHENOTYPE; VULNERABILITY FACTOR; COGNITIVE FUNCTION; AUTISTIC
DISORDER; CEREBRAL-CORTEX; ANIMAL-MODELS; RETT-SYNDROME
AB Reelin is a large secreted extracellular matrix glycoprotein playing an important role in early neurodevelopment. Several genetic studies found an association between RELN gene and increased risk of autism suggesting that reelin deficiency may be a vulnerability factor in its etiology. Moreover, a reduced reelin expression has been observed in several brain regions of subjects with Autism Spectrum Disorders. Since a number of reports have documented presence of vocal and neuromotor abnormalities in patients with autism and suggested that these dysfunctions predate the onset of the syndrome, we performed a fine-grain characterization of the neonatal vocal and motor repertoire in reelin mutant mice to explore the developmental precursors of the disorder. Our findings evidence a general delay in motor and vocal development in heterozygous (50% reduced reelin) and reeler (lacking reelin gene) mutant mice. As a whole, an increased number of calls characterized heterozygous pup's emission. Furthermore, the typical ontogenetic peak in the number of calls characterizing wild-type pups on postnatal day 4 appeared slightly delayed in heterozygous pups (to day 6) and was quite absent in reeler littermates, which exhibited a flat profile during development. We also detected a preferential use of a specific call category (two-components) by heterozygous and reeler mice at postnatal days 6 and 8 as compared to their wild-type littermates. With regard to the analysis of spontaneous movements, a differential profile emerged early in development among the three genotypes. While only slight coordination difficulties are exhibited by heterozygous pups, all indices of motor development appear delayed in reeler mice. Overall, our results evidence a genotype-dependent deviation in ultrasonic vocal repertoire and a general delay in motor development in reelin mutant pups.
C1 [Romano, Emilia; Laviola, Giovanni] Ist Super Sanita, Behav Neurosci Sect, Dept Cell Biol & Neurosci, Rome, Italy.
[Michetti, Caterina; Caruso, Angela; Scattoni, Maria Luisa] Ist Super Sanita, Neurotoxicol & Neuroendocrinol Sect, Dept Cell Biol & Neurosci, Rome, Italy.
[Romano, Emilia] Ist Ricovero & Cura Carattere Sci, Bambino Gesu Childrens Hosp, Rome, Italy.
RP Scattoni, ML (reprint author), Ist Super Sanita, Neurotoxicol & Neuroendocrinol Sect, Dept Cell Biol & Neurosci, Rome, Italy.
EM marialuisa.scattoni@iss.it
FU Italian Ministry of Health Grant, Young Researcher, GR3-"Non-invasive
tools for early detection of Autism Spectrum Disorders'; ERAnet
"PrioMedChild'', Italian Ministry of Health; IRE-IFO [RF2008]
FX This work has been supported by the Italian Ministry of Health Grant,
Young Researcher 2008, GR3-"Non-invasive tools for early detection of
Autism Spectrum Disorders'' (MLS, CM and AC); by the ERAnet
"PrioMedChild'', Italian Ministry of Health (ER) and IRE-IFO (RF2008)
"MECP2 phosphorilation and related kinase in Rett syndrom'' (GL). 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 81
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 MAY 21
PY 2013
VL 8
IS 5
AR e64407
DI 10.1371/journal.pone.0064407
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 149OK
UT WOS:000319330200132
PM 23700474
ER
PT J
AU Cao, Y
Zhao, QD
Hu, LJ
Sun, ZQ
Sun, SP
Yun, WW
Yuan, YG
AF Cao, Yin
Zhao, Quan-Di
Hu, Li-Jun
Sun, Zhi-Qin
Sun, Su-Ping
Yun, Wen-Wei
Yuan, Yong-Gui
TI Theory of mind deficits in patients with esophageal cancer combined with
depression
SO WORLD JOURNAL OF GASTROENTEROLOGY
LA English
DT Article
DE Esophageal cancer combined with depression; Theory of mind; Social
perceptual component; Social cognitive component
ID QUALITY-OF-LIFE; PSYCHOLOGICAL DISTRESS; ADULTS; SURVIVORS; DISORDER;
AUTISM
AB AIM: To characterize the two components of theory of mind (ToM) in patients with esophageal cancer combined with depression.
METHODS: Sixty-five patients with esophageal cancer combined with depression (depressed group) and 62 normal controls (control group) were assessed using reading the mind in the eyes test, faux pas task, verbal fluency test, digit span test and WAIS IQ test. The depressed group was divided into two subgroups including psychotic depressed (PD) group (32 cases) and nonpsychotic depressed (NPD) group (33 cases).The clinical symptoms of patients were assessed using Beck depression inventory version. and brief psychiatric reacting scale (BPRS).
RESULTS: There was a significant difference between the depressed group and the control group on tasks involving ToM social perceptual components (mind reading: t = 7.39, P < 0.01) and tests involving ToM social cognitive components (faux pas questions: t = 13.75, P < 0.01), respectively. A significant difference was also found among the PD group, the NPD group and the control group on mind reading (F = 32.98, P < 0.01) and faux pas questions (chi(2) = 78.15, P < 0.01), respectively. The PD group and NPD group performed worse than normal group controls both on mind reading and faux pas questions (P < 0.05). The PD group performed significantly worse than the NPD group on tasks involving ToM (mind reading: F = 18.99, P < 0.01; faux pas questions: F = 36.01, P < 0.01). In the depressed group, there was a negative correlation between ToM performances and BPRS total score (mind reading: r = -0.35, P < 0.01; faux pas questions: r = -0.51, P < 0.01), and between ToM performances and hostile suspiciousness factor score (mind reading: r = -0.75, P < 0.01; faux pas questions: r = -0.73, P < 0.01), respectively.
CONCLUSION: The two components of ToM are both impaired in patients with esophageal cancer combined with depression. This indicates that there may be an association between ToM deficits and psychotic symptoms in clinical depression. (C) 2013 Baishideng. All rights reserved.
C1 [Cao, Yin; Yun, Wen-Wei] Nanjing Med Univ, Changzhou Peoples Hosp 2, Dept Internal Med, Changzhou 213003, Jiangsu, Peoples R China.
[Zhao, Quan-Di; Hu, Li-Jun; Sun, Su-Ping] Nanjing Med Univ, Changzhou Peoples Hosp 2, Dept Radiotherapy, Changzhou 213003, Jiangsu, Peoples R China.
[Sun, Zhi-Qin] Nanjing Med Univ, Changzhou Peoples Hosp 2, Dept Nursing, Changzhou 213003, Jiangsu, Peoples R China.
[Yuan, Yong-Gui] Southeast Univ, Dept Psychol, Zhongda Hosp, Nanjing 210009, Jiangsu, Peoples R China.
RP Yuan, YG (reprint author), Southeast Univ, Dept Psychol, Zhongda Hosp, 87 Dingjiaqiao, Nanjing 210009, Jiangsu, Peoples R China.
EM caoyingyishi@yeah.net
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NR 20
TC 0
Z9 0
PU BAISHIDENG PUBL GRP CO LTD
PI WANCHAI
PA ROOM 1701, 17-F, HENAN BUILDING, NO. 90, JAFFE RD, WANCHAI, HONG KONG
100025, PEOPLES R CHINA
SN 1007-9327
J9 WORLD J GASTROENTERO
JI World J. Gastroenterol.
PD MAY 21
PY 2013
VL 19
IS 19
BP 2969
EP 2973
DI 10.3748/wjg.v19.i19.2969
PG 5
WC Gastroenterology & Hepatology
SC Gastroenterology & Hepatology
GA 149PT
UT WOS:000319334100014
PM 23704831
ER
PT J
AU Wataya-Kaneda, M
Tanaka, M
Hamasaki, T
Katayama, I
AF Wataya-Kaneda, Mari
Tanaka, Mari
Hamasaki, Toshimitsu
Katayama, Ichiro
TI Trends in the Prevalence of Tuberous Sclerosis Complex Manifestations:
An Epidemiological Study of 166 Japanese Patients
SO PLOS ONE
LA English
DT Article
ID ACQUIRED PERIUNGUAL FIBROKERATOMA; UTERINE LEIOMYOMA;
DIAGNOSTIC-CRITERIA; MUTATIONAL ANALYSIS; MENTAL-RETARDATION;
CLINICAL-FEATURES; EPILEPSY; LYMPHANGIOLEIOMYOMATOSIS; CHILDREN; TSC1
AB Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with multi-system involvement and variable manifestations. There has been significant progress in TSC research and the development of technologies used to diagnose this disorder. As a result, individuals with mild TSC are now being diagnosed, including many older adults who have not developed seizures or cognitive abnormalities. We conducted a statistical analysis of the frequency of TSC manifestations in a population of Japanese adults and children, comparing our findings with historical data. The chi-square test was used to examine the frequency of each manifestation by age. A total of 166 outpatients at the Department of Dermatology of Osaka University Hospital during the period from January 2001 to March 2011 were included in the study. Compared to previous reports, the frequency of neurologic manifestations (excepting autism) was lower in this cohort, and the frequency of skin manifestations (excepting hypomelanotic macules) was higher in this cohort. The frequencies of pulmonary lymphangioleiomyomatosis and renal manifestations were not significantly different from those previously reported. Regarding the association of each manifestation with age, the frequency of neurologic manifestations (excepting subependymal giant cell astrocytoma) was significantly higher in younger patients than in older patients. The frequency of skin manifestations and renal angiomyolipoma were significantly higher in older patients than in younger patients. Because of their high frequency and visibility, skin manifestations are useful in the diagnosis of TSC. Moreover, uterine perivascular epithelioid cell tumor was also characterized as a new findings associated with TSC.
C1 [Wataya-Kaneda, Mari; Tanaka, Mari; Katayama, Ichiro] Osaka Univ, Grad Sch Med, Dept Dermatol, Suita, Osaka, Japan.
[Hamasaki, Toshimitsu] Osaka Univ, Grad Sch Med, Dept Biomed Stat, Suita, Osaka, Japan.
RP Wataya-Kaneda, M (reprint author), Osaka Univ, Grad Sch Med, Dept Dermatol, Suita, Osaka, Japan.
EM mkaneda@derma.med.osaka-u.ac.jp
FU Ministry of Education, Culture, Sports, Science and Technology of Japan;
Ministry of Health, Labor and Welfare of Japan
FX This study was supported by the grant from the Ministry of Education,
Culture, Sports, Science and Technology of Japan and the grant from the
Ministry of Health, Labor and Welfare of Japan. The funders had no role
in study design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 65
TC 7
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 MAY 17
PY 2013
VL 8
IS 5
AR e63910
DI 10.1371/journal.pone.0063910
PG 13
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 146RJ
UT WOS:000319107900064
PM 23691114
ER
PT J
AU Yokota, S
Taki, Y
Hashizume, H
Sassa, Y
Thyreau, B
Tanaka, M
Kawashima, R
AF Yokota, Susumu
Taki, Yasuyuki
Hashizume, Hiroshi
Sassa, Yuko
Thyreau, Benjamin
Tanaka, Mari
Kawashima, Ryuta
TI Neural correlates of deception in social contexts in normally developing
children
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE deception; fMRI; mentalizing; children; social context
ID FUNCTIONAL MAGNETIC-RESONANCE; COGNITIVE CONTROL; CONCEALED INFORMATION;
RESPONSE-INHIBITION; FRONTAL-CORTEX; GO/NO-GO; MIND; BRAIN; FMRI; AUTISM
AB Deception is related to the ability to inhibit prepotent responses and to engage in mental tasks such as anticipating responses and inferring what another person knows, especially in social contexts. However, the neural correlates of deception processing, which requires mentalizing, remain unclear. Using functional magnetic resonance imaging (fMRI), we examined the neural correlates of deception, including mentalization, in social contexts in normally developing children. Healthy right-handed children (aged 8-9 years) were scanned while performing interactive games involving deception. The games varied along two dimensions: the type of reply (deception and truth) and the type of context (social and less social). Participants were instructed to deceive a witch and to tell the truth to a girl. Under the social-context conditions, participants were asked to consider what they inferred about protagonists' preferences from their facial expressions when responding to questions. Under the less-social-context conditions, participants did not need to consider others' preferences. We found a significantly greater response in the right precuneus under the social-context than under less-social-context conditions. Additionally, we found marginally greater activation in the right inferior parietal lobule (IPL) under the deception than under the truth condition. These results suggest that deception in a social context requires not only inhibition of prepotent responses but also engagement in mentalizing processes. This study provides the first evidence of the neural correlates of the mentalizing processes involved in deception in normally developing children.
C1 [Yokota, Susumu; Tanaka, Mari] Tohoku Univ, Grad Sch Educ, Sendai, Miyagi 9808576, Japan.
[Yokota, Susumu] Japan Soc Promot Sci, Tokyo, Japan.
[Taki, Yasuyuki; Hashizume, Hiroshi; Sassa, Yuko; Thyreau, Benjamin; Kawashima, Ryuta] Tohoku Univ, IDAC, Div Dev Cognit Neurosci, Sendai, Miyagi 9808576, Japan.
RP Yokota, S (reprint author), Tohoku Univ, Grad Sch Educ, Aoba Ku, 27-1 Kawauchi, Sendai, Miyagi 9808576, Japan.
EM susumuyokota38@gmail.com
FU Japan Society for the Promotion of Science
FX This study was supported by a Grant-in-Aid from the Japan Society for
the Promotion of Science Fellows. We would like to thank our
participants and their parents for their participation in the present
study. We thank K. Asano and M. Asano for collecting MR data and K.
Sato, Y. Kurita, Y. Matsuzaki, N. Hosozima, K. Nagase, Y. Takegahara,
and K. Takenoshita for cognitive testing.
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NR 58
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 MAY 17
PY 2013
VL 7
AR 206
DI 10.3389/fnhum.2013.00206
PG 8
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA 145UH
UT WOS:000319043100001
PM 23730281
ER
PT J
AU Lim, L
Marquand, A
Cubillo, AA
Smith, AB
Chantiluke, K
Simmons, A
Mehta, M
Rubia, K
AF Lim, Lena
Marquand, Andre
Cubillo, Ana A.
Smith, Anna B.
Chantiluke, Kaylita
Simmons, Andrew
Mehta, Mitul
Rubia, Katya
TI Disorder-Specific Predictive Classification of Adolescents with
Attention Deficit Hyperactivity Disorder (ADHD) Relative to Autism Using
Structural Magnetic Resonance Imaging
SO PLOS ONE
LA English
DT Article
ID DEFICIT/HYPERACTIVITY DISORDER; SPECTRUM DISORDER; LIKELIHOOD
ESTIMATION; ALZHEIMERS-DISEASE; BRAIN STRUCTURE; METAANALYSIS; MRI;
CHILDREN; ABNORMALITIES; NEUROANATOMY
AB Objective: Attention Deficit Hyperactivity Disorder (ADHD) is a neurodevelopmental disorder, but diagnosed by subjective clinical and rating measures. The study's aim was to apply Gaussian process classification (GPC) to grey matter (GM) volumetric data, to assess whether individual ADHD adolescents can be accurately differentiated from healthy controls based on objective, brain structure measures and whether this is disorder-specific relative to autism spectrum disorder (ASD).
Method: Twenty-nine adolescent ADHD boys and 29 age-matched healthy and 19 boys with ASD were scanned. GPC was applied to make disorder-specific predictions of ADHD diagnostic status based on individual brain structure patterns. In addition, voxel-based morphometry (VBM) analysis tested for traditional univariate group level differences in GM.
Results: The pattern of GM correctly classified 75.9% of patients and 82.8% of controls, achieving an overall classification accuracy of 79.3%. Furthermore, classification was disorder-specific relative to ASD. The discriminating GM patterns showed higher classification weights for ADHD in earlier developing ventrolateral/premotor fronto-temporo-limbic and stronger classification weights for healthy controls in later developing dorsolateral fronto-striato-parieto-cerebellar networks. Several regions were also decreased in GM in ADHD relative to healthy controls in the univariate VBM analysis, suggesting they are GM deficit areas.
Conclusions: The study provides evidence that pattern recognition analysis can provide significant individual diagnostic classification of ADHD patients and healthy controls based on distributed GM patterns with 79.3% accuracy and that this is disorder-specific relative to ASD. Findings are a promising first step towards finding an objective differential diagnostic tool based on brain imaging measures to aid with the subjective clinical diagnosis of ADHD.
C1 [Lim, Lena; Cubillo, Ana A.; Smith, Anna B.; Chantiluke, Kaylita; Rubia, Katya] Kings Coll London, Inst Psychiat, Dept Child & Adolescent Psychiat, London WC2R 2LS, England.
[Lim, Lena] Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Psychol Med, Singapore 117595, Singapore.
[Marquand, Andre; Simmons, Andrew; Mehta, Mitul] Kings Coll London, Inst Psychiat, Dept Neuroimaging, London WC2R 2LS, England.
[Simmons, Andrew] South London & Maudsley Fdn NHS Trust, NIHR Biomed Res Ctr, London, England.
[Simmons, Andrew] Kings Coll London, Inst Psychiat, London WC2R 2LS, England.
RP Rubia, K (reprint author), Kings Coll London, Inst Psychiat, Dept Child & Adolescent Psychiat, London WC2R 2LS, England.
EM katya.rubia@kcl.ac.uk
RI Simmons, Andrew/B-8848-2008; Mehta, Mitul/F-3960-2010; Marquand,
Andre/B-6050-2012
OI Simmons, Andrew/0000-0003-2306-5811; Marquand, Andre/0000-0001-5903-203X
FU NIHR Biomedical Research Centre (BRC) for Mental Health at South London;
Maudsley NHS Foundation Trust; Institute of Psychiatry, Kings College
London; Lilly Pharmaceuticals; National Medical Research Council
(Singapore); NIHR BRC; King's College London Centre of Excellence in
Medical Engineering; Wellcome Trust; EPSRC [WT088641/Z/09/Z]
FX Data collection was supported by grants by the NIHR Biomedical Research
Centre (BRC) for Mental Health at South London and Maudsley NHS
Foundation Trust and Institute of Psychiatry, Kings College London and
Lilly Pharmaceuticals. LL was supported by the National Medical Research
Council (Singapore). A, Smith, AC, A. Simmonds and KC were supported by
the NIHR BRC. AM was supported by the King's College London Centre of
Excellence in Medical Engineering, funded by the Wellcome Trust and
EPSRC under grant no. WT088641/Z/09/Z. Lilly Pharmaceuticals had no
input into the design, analysis, data interpretation or write-up. The
funders had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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NR 65
TC 9
Z9 9
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 MAY 16
PY 2013
VL 8
IS 5
AR e63660
DI 10.1371/journal.pone.0063660
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 146HW
UT WOS:000319081900048
PM 23696841
ER
PT J
AU Prabhakar, S
Goto, J
Zuang, X
Sena-Esteves, M
Bronson, R
Brockmann, J
Gianni, D
Wojtkiewicz, GR
Chen, JW
Stemmer-Rachamimov, A
Kwiatkowski, DJ
Breakefield, XO
AF Prabhakar, Shilpa
Goto, June
Zuang, Xuan
Sena-Esteves, Miguel
Bronson, Roderick
Brockmann, Jillian
Gianni, Davide
Wojtkiewicz, Gregory R.
Chen, John W.
Stemmer-Rachamimov, Anat
Kwiatkowski, David J.
Breakefield, Xandra O.
TI Stochastic Model of Tsc1 Lesions in Mouse Brain
SO PLOS ONE
LA English
DT Article
ID TUBEROUS SCLEROSIS COMPLEX; MTOR PATHWAY; GIANT-CELLS; RAPAMYCIN;
ACTIVATION; MANAGEMENT; SURVIVAL; DEFICITS; MICE
AB Tuberous sclerosis complex (TSC) is an autosomal dominant disorder due to mutations in either TSC1 or TSC2 that affects many organs with hamartomas and tumors. TSC-associated brain lesions include subependymal nodules, subependymal giant cell astrocytomas and tubers. Neurologic manifestations in TSC comprise a high frequency of mental retardation and developmental disorders including autism, as well as epilepsy. Here, we describe a new mouse model of TSC brain lesions in which complete loss of Tsc1 is achieved in multiple brain cell types in a stochastic pattern. Injection of an adeno-associated virus vector encoding Cre recombinase into the cerebral ventricles of mice homozygous for a Tsc1 conditional allele on the day of birth led to reduced survival, and pathologic findings of enlarged neurons, cortical heterotopias, subependymal nodules, and hydrocephalus. The severity of clinical and pathologic findings as well as survival was shown to be dependent upon the dose and serotype of Cre virus injected. Although several other models of TSC brain disease exist, this model is unique in that the pathology reflects a variety of TSC-associated lesions involving different numbers and types of cells. This model provides a valuable and unique addition for therapeutic assessment.
C1 [Prabhakar, Shilpa; Zuang, Xuan; Breakefield, Xandra O.] Massachusetts Gen Hosp, Dept Neurol, Mol Neurogenet Unit, Boston, MA 02114 USA.
[Prabhakar, Shilpa; Zuang, Xuan; Breakefield, Xandra O.] Massachusetts Gen Hosp, Dept Radiol, Ctr Mol Imaging Res, Boston, MA 02114 USA.
[Prabhakar, Shilpa; Zuang, Xuan; Breakefield, Xandra O.] Harvard Univ, Sch Med, Program Neurosci, Boston, MA 02115 USA.
[Goto, June; Kwiatkowski, David J.] Harvard Univ, Brigham & Womens Hosp, Sch Med, Translat Med Div,Dept Med, Boston, MA 02115 USA.
[Sena-Esteves, Miguel; Gianni, Davide] Univ Massachusetts, Sch Med, Dept Neurol, Gene Therapy Ctr, Worcester, MA USA.
[Bronson, Roderick] Harvard Univ, Sch Med, Rodent Histopathol Core Facil, Boston, MA USA.
[Brockmann, Jillian; Stemmer-Rachamimov, Anat] Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA.
[Wojtkiewicz, Gregory R.; Chen, John W.] Massachusetts Gen Hosp, Ctr Syst Biol, Boston, MA 02114 USA.
[Wojtkiewicz, Gregory R.; Chen, John W.] Massachusetts Gen Hosp, Dept Radiol, Boston, MA 02114 USA.
RP Breakefield, XO (reprint author), Massachusetts Gen Hosp, Dept Neurol, Mol Neurogenet Unit, Boston, MA 02114 USA.
EM breakefield@hms.harvard.edu
FU NIH/NINDS [NS24279-23, R01NS070835, R01NS072167]; DOD Army Grant
[W81XWH-13-1-0076]
FX NIH/NINDS NS24279-23, R01NS070835, R01NS072167 and DOD Army Grant
W81XWH-13-1-0076 for the Award Mechanism: Exploration - Hypothesis
Development Award. The funders had no role in study design, data
collection and analysis, decision to publish, or preparation of the
manuscript.
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European Chromosome 16 Tuberous Sclerosis C, 1993, CELL, V75
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NR 39
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 MAY 16
PY 2013
VL 8
IS 5
AR e64224
DI 10.1371/journal.pone.0064224
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 146HW
UT WOS:000319081900075
PM 23696872
ER
PT J
AU Selvaraj, J
Murugappan, M
Wan, K
Yaacob, S
AF Selvaraj, Jerritta
Murugappan, Murugappan
Wan, Khairunizam
Yaacob, Sazali
TI Classification of emotional states from electrocardiogram signals: a
non-linear approach based on hurst
SO BIOMEDICAL ENGINEERING ONLINE
LA English
DT Article
ID HIGHER-ORDER STATISTICS; HEART-RATE; RESPONSES; FEATURES
AB Background: Identifying the emotional state is helpful in applications involving patients with autism and other intellectual disabilities; computer-based training, human computer interaction etc. Electrocardiogram (ECG) signals, being an activity of the autonomous nervous system (ANS), reflect the underlying true emotional state of a person. However, the performance of various methods developed so far lacks accuracy, and more robust methods need to be developed to identify the emotional pattern associated with ECG signals.
Methods: Emotional ECG data was obtained from sixty participants by inducing the six basic emotional states (happiness, sadness, fear, disgust, surprise and neutral) using audio-visual stimuli. The non-linear feature 'Hurst' was computed using Rescaled Range Statistics (RRS) and Finite Variance Scaling (FVS) methods. New Hurst features were proposed by combining the existing RRS and FVS methods with Higher Order Statistics (HOS). The features were then classified using four classifiers - Bayesian Classifier, Regression Tree, K- nearest neighbor and Fuzzy K-nearest neighbor. Seventy percent of the features were used for training and thirty percent for testing the algorithm.
Results: Analysis of Variance (ANOVA) conveyed that Hurst and the proposed features were statistically significant (p < 0.001). Hurst computed using RRS and FVS methods showed similar classification accuracy. The features obtained by combining FVS and HOS performed better with a maximum accuracy of 92.87% and 76.45% for classifying the six emotional states using random and subject independent validation respectively.
Conclusions: The results indicate that the combination of non-linear analysis and HOS tend to capture the finer emotional changes that can be seen in healthy ECG data. This work can be further fine tuned to develop a real time system.
C1 [Selvaraj, Jerritta; Murugappan, Murugappan; Wan, Khairunizam; Yaacob, Sazali] Univ Malaysia Perlis, Sch Mechatron Engn, Arau 02600, Perlis, Malaysia.
RP Selvaraj, J (reprint author), Univ Malaysia Perlis, Sch Mechatron Engn, Kampus Ulu Pauh, Arau 02600, Perlis, Malaysia.
EM sn.jerritta@gmail.com
RI MURUGAPPAN, MURUGAPPAN/E-2402-2014
OI MURUGAPPAN, MURUGAPPAN/0000-0002-5839-4589
FU Fundamental Research Grant Scheme (FRGS), Ministry of Higher Education
(MOHE), Malaysia [9003-00341]; Ministry of Science, Technology and
Innovation (MOSTI), Malaysia [9005-00053]
FX This research is supported by the Fundamental Research Grant Scheme
(FRGS), Ministry of Higher Education (MOHE), Malaysia. Grant number:
9003-00341 and Ministry of Science, Technology and Innovation (MOSTI),
Malaysia. Grant number: 9005-00053.
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NR 52
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1475-925X
J9 BIOMED ENG ONLINE
JI Biomed. Eng. Online
PD MAY 16
PY 2013
VL 12
AR 44
DI 10.1186/1475-925X-12-44
PG 18
WC Engineering, Biomedical
SC Engineering
GA 161KS
UT WOS:000320192400001
PM 23680041
ER
PT J
AU Buxbaum, JD
Baron-Cohen, S
AF Buxbaum, Joseph D.
Baron-Cohen, Simon
TI DSM-5: the debate continues
SO MOLECULAR AUTISM
LA English
DT Editorial Material
AB We are fortunate to have invited commentaries from the laboratories of Dr Cathy Lord and Dr Fred Volkmar offering their perspectives on the new Diagnostic and Statistical Manual of Mental Disorders (DSM)-5 criteria for the autism spectrum. Both commentaries note how DSM-5 collapses the earlier diagnostic categories of the pervasive developmental disorders into a single category of autism spectrum disorder. In addition, DSM-5 collapses social and communication domains into a single combined domain. The commentaries go on to discuss the positive aspects of these changes and raise some areas of potential concern. We support the evidence-based changes to autism diagnosis found in DSM-5, and look forward to further studies on the autism phenotype as this has implications for diagnosis and treatment. As our mechanistic understanding of autism improves, diagnoses based on behavioral parameters will continue to provide opportunities for interventions targeting the behaviors, while etiological diagnoses will provide opportunities for interventions tailored to etiology.
C1 [Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, Seaver Autism Ctr Res & Treatment, Dept Psychiat, New York, NY 10029 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, Seaver Autism Ctr Res & Treatment, Dept Neurosci, New York, NY 10029 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, Seaver Autism Ctr Res & Treatment, Dept Genet & Genom Sci, New York, NY 10029 USA.
[Baron-Cohen, Simon] Univ Cambridge, Autism Res Ctr, Cambridge CB2 8AH, England.
RP Buxbaum, JD (reprint author), Icahn Sch Med Mt Sinai, Friedman Brain Inst, Seaver Autism Ctr Res & Treatment, Dept Psychiat, New York, NY 10029 USA.
EM joseph.buxbaum@mssm.edu; sb205@cam.ac.uk
NR 0
TC 5
Z9 6
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 MAY 15
PY 2013
VL 4
AR 11
DI 10.1186/2040-2392-4-11
PG 2
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA 254VC
UT WOS:000327195500001
PM 23676181
ER
PT J
AU Grzadzinski, R
Huerta, M
Lord, C
AF Grzadzinski, Rebecca
Huerta, Marisela
Lord, Catherine
TI DSM-5 and autism spectrum disorders (ASDs): an opportunity for
identifying ASD subtypes
SO MOLECULAR AUTISM
LA English
DT Review
ID PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC INTERVIEW;
ASPERGER-SYNDROME; YOUNG-CHILDREN; LANGUAGE IMPAIRMENT; EARLY-CHILDHOOD;
SENSORY ABNORMALITIES; GENETIC INFLUENCES; PDD-NOS; POPULATION
AB The heterogeneous clinical presentations of individuals with autism spectrum disorders (ASDs) poses a significant challenge for sample characterization and limits the interpretability and replicability of research studies. The Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5) diagnostic criteria for ASD, with its dimensional approach, may be a useful framework to increase the homogeneity of research samples. In this review, we summarize the revisions to the diagnostic criteria for ASD, briefly highlight the literature supporting these changes, and illustrate how DSM-5 can improve sample characterization and provide opportunities for researchers to identify possible subtypes within ASD.
C1 [Grzadzinski, Rebecca; Huerta, Marisela; Lord, Catherine] Weill Cornell Med Coll, Ctr Autism & Dev Brain, New York, NY USA.
[Grzadzinski, Rebecca; Huerta, Marisela; Lord, Catherine] New York Presbyterian Hosp, Westchester Div, New York, NY USA.
[Grzadzinski, Rebecca] Columbia Univ, Teachers Coll, New York, NY 10027 USA.
RP Grzadzinski, R (reprint author), Weill Cornell Med Coll, Ctr Autism & Dev Brain, New York, NY USA.
EM rebecca.grzadzinski@gmail.com
FU NIMH [5R01MH081873-04]; NICHD [1R01HD073975-01]
FX This research is supported by a grant from the NIMH (5R01MH081873-04)
and a grant from the NICHD (1R01HD073975-01).
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NR 79
TC 9
Z9 10
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 MAY 15
PY 2013
VL 4
AR 12
DI 10.1186/2040-2392-4-12
PG 6
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA 254VC
UT WOS:000327195500002
PM 23675638
ER
PT J
AU Volkmar, FR
Reichow, B
AF Volkmar, Fred R.
Reichow, Brian
TI Autism in DSM-5: progress and challenges
SO MOLECULAR AUTISM
LA English
DT Review
DE Autism spectrum disorders; diagnosis; DSM-IV; DSM-5
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDER;
DIAGNOSTIC-CRITERIA; FIELD TRIALS; IV-TR; CLASSIFICATION; SPECIFICITY;
SENSITIVITY
AB Background: Since Kanner's first description of autism there have been a number of changes in approaches to diagnosis with certain key continuities. Since the Fourth edition of the Diagnostic and Statistical Manual (DSM-IV) appeared in 1994 there has been an explosion in research publications. The advent of changes in DSM-5 presents some important moves forward as well as some potential challenges.
Methods: The various relevant studies are summarized.
Results: If research diagnostic instruments are available, many (but not all) cases with a DSM-IV diagnosis of autism continue to have this diagnosis. The overall efficiency of this system falls if only one source of information is available and, particularly, if the criteria are used outside the research context. The impact is probably greatest among the most cognitively able cases and those with less classic autism presentations.
Conclusions: Significant discontinuities in diagnostic practice raise significant problems for both research and clinical services. For DSM-5, the impact of these changes remains unclear.
C1 [Volkmar, Fred R.; Reichow, Brian] Yale Univ, Sch Med, Ctr Child Study, New Haven, CT 06520 USA.
RP Volkmar, FR (reprint author), Yale Univ, Sch Med, Ctr Child Study, POB 207900, New Haven, CT 06520 USA.
EM fred.volkmar@yale.edu
FU NIMH [P50 MH081756]
FX FRV was supported by NIMH P50 MH081756.
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NR 31
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 MAY 15
PY 2013
VL 4
AR 13
DI 10.1186/2040-2392-4-13
PG 6
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA 254VC
UT WOS:000327195500003
PM 23675688
ER
PT J
AU Ueda, S
Negishi, M
Katoh, H
AF Ueda, Shuhei
Negishi, Manabu
Katoh, Hironori
TI Rac GEF Dock4 interacts with cortactin to regulate dendritic spine
formation
SO MOLECULAR BIOLOGY OF THE CELL
LA English
DT Article
ID SMALL GTPASES; ARP2/3 COMPLEX; CELL-MIGRATION; NMDA RECEPTOR; RHO
GTPASES; ACTIN; AUTISM; MORPHOGENESIS; SCHIZOPHRENIA; MAINTENANCE
AB In neuronal development, dendritic spine formation is important for the establishment of excitatory synaptic connectivity and functional neural circuits. Developmental deficiency in spine formation results in multiple neuropsychiatric disorders. Dock4, a guanine nucleotide exchange factor (GEF) for Rac, has been reported as a candidate genetic risk factor for autism, dyslexia, and schizophrenia. We previously showed that Dock4 is expressed in hippocampal neurons. However, the functions of Dock4 in hippocampal neurons and the underlying molecular mechanisms are poorly understood. Here we show that Dock4 is highly concentrated in dendritic spines and implicated in spine formation via interaction with the actin-binding protein cortactin. In cultured neurons, short hairpin RNA (shRNA)-mediated knockdown of Dock4 reduces dendritic spine density, which is rescued by coexpression of shRNA-resistant wild-type Dock4 but not by a GEF-deficient mutant of Dock4 or a truncated mutant lacking the cortactin-binding region. On the other hand, knockdown of cortactin suppresses Dock4-mediated spine formation. Taken together, the results show a novel and functionally important interaction between Dock4 and cortactin for regulating dendritic spine formation via activation of Rac.
C1 [Ueda, Shuhei; Negishi, Manabu; Katoh, Hironori] Kyoto Univ, Grad Sch Biostudies, Mol Neurobiol Lab, Sakyo Ku, Kyoto 6068501, Japan.
RP Katoh, H (reprint author), Kyoto Univ, Grad Sch Biostudies, Mol Neurobiol Lab, Sakyo Ku, Kyoto 6068501, Japan.
EM hirokato@pharm.kyoto-u.ac.jp
FU Ministry of Education, Culture, Sports, Science and Technology of Japan
[23370085, 23390019, 24659031, 236767]
FX We thank M. Matsuda for the Dock180 expression plasmid and J. Miyazaki
and T. Saito for the EYFP expression plasmid. This work was supported in
part by Grants-in-Aid for Scientific Research from the Ministry of
Education, Culture, Sports, Science and Technology of Japan: Scientific
Research (B) 23370085 (to H.K.), 23390019 (to M.N.), Challenging
Exploratory Research 24659031 (to H.K.), and Research Fellowship for
Young Scientists (DC) 236767 (to S.U.).
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PU AMER SOC CELL BIOLOGY
PI BETHESDA
PA 8120 WOODMONT AVE, STE 750, BETHESDA, MD 20814-2755 USA
SN 1059-1524
J9 MOL BIOL CELL
JI Mol. Biol. Cell
PD MAY 15
PY 2013
VL 24
IS 10
BP 1602
EP 1613
DI 10.1091/mbc.E12-11-0782
PG 12
WC Cell Biology
SC Cell Biology
GA 174ZS
UT WOS:000321198700010
PM 23536706
ER
PT J
AU Dinsdale, NL
Hurd, PL
Wakabayashi, A
Elliot, M
Crespi, BJ
AF Dinsdale, Natalie L.
Hurd, Peter L.
Wakabayashi, Akio
Elliot, Mick
Crespi, Bernard J.
TI How Are Autism and Schizotypy Related? Evidence from a Non-Clinical
Population
SO PLOS ONE
LA English
DT Article
ID SPECTRUM QUOTIENT AQ; HIGH-FUNCTIONING AUTISM; GENERAL-POPULATION;
MAGICAL IDEATION; MIXED-HANDEDNESS; HAND PREFERENCE; SEX-DIFFERENCES;
SOCIAL BRAIN; SCHIZOPHRENIA; DISORDERS
AB Both autism spectrum conditions (ASCs) and schizophrenia spectrum conditions (SSCs) involve altered or impaired social and communicative functioning, but whether these shared features indicate overlapping or different etiological factors is unknown. We outline three hypotheses (overlapping, independent, and diametric) for the possible relationship between ASCs and SSCs, and compare their predictions for the expected relationships between autistic and schizotypal phenotypes using the Autism Spectrum Quotient and the Schizotypal Personality Questionnaire-Brief Revised from a large non-clinical sample of undergraduate students. Consistent with previous research, autistic features were positively associated with several schizotypal features, with the most overlap occurring between interpersonal schizotypy and autistic social and communication phenotypes. The first component of a principal components analysis (PCA) of subscale scores reflected these positive correlations, and suggested the presence of an axis (PC1) representing general social interest and aptitude. By contrast, the second principal component (PC2) exhibited a pattern of positive and negative loadings indicative of an axis from autism to positive schizotypy, such that positive schizotypal features loaded in the opposite direction to core autistic features. These overall PCA patterns were replicated in a second data set from a Japanese population. To evaluate the validity of our interpretation of the PCA results, we measured handedness and mental rotation ability, as these are established correlates of SSCs and ASCs, respectively. PC2 scores were significantly associated with hand preference, such that increasingly 'schizotypal' scores predicted reduced strength of handedness, which is consistent with previous research. PC1 scores were positively related to performance on the mental rotation task, suggesting trade-offs between social skills and visual-spatial ability. These results provide novel evidence for an autism-positive schizotypy axis, and highlight the importance of recognizing that psychological variation involving reduced social interest and functioning may have diverse causes.
C1 [Dinsdale, Natalie L.; Elliot, Mick; Crespi, Bernard J.] Simon Fraser Univ, Burnaby, BC V5A 1S6, Canada.
[Hurd, Peter L.] Univ Alberta, Edmonton, AB, Canada.
[Wakabayashi, Akio] Chiba Univ, Chiba, Japan.
RP Crespi, BJ (reprint author), Simon Fraser Univ, Burnaby, BC V5A 1S6, Canada.
EM crespi@sfu.ca
RI Hurd, Peter/A-4342-2009
OI Hurd, Peter/0000-0002-4389-0846
FU NSERC [31-611569]
FX This research was funded by NSERC Discovery Grant 31-611569
(www.nserc-crsng.gc.ca/index_eng.asp). The funder had no role in study
design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 92
TC 9
Z9 9
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 MAY 15
PY 2013
VL 8
IS 5
AR e63316
DI 10.1371/journal.pone.0063316
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 145XK
UT WOS:000319052700029
PM 23691021
ER
PT J
AU Pereira, JA
Quach, S
Dao, HH
Kwong, JC
Deeks, SL
Crowcroft, NS
Quan, SD
Guay, M
AF Pereira, Jennifer A.
Quach, Susan
Dao, Huy Hao
Kwong, Jeffrey C.
Deeks, Shelley L.
Crowcroft, Natasha S.
Quan, Sherman D.
Guay, Maryse
CA Public Hlth Agcy Canada Canadian I
Evaluation Grp
TI Contagious Comments: What Was the Online Buzz About the 2011 Quebec
Measles Outbreak?
SO PLOS ONE
LA English
DT Article
ID VACCINATION
AB Background: Although interruption of endemic measles was achieved in the Americas in 2002, Quebec experienced an outbreak in 2011 of 776 reported cases; 80% of these individuals had not been fully vaccinated. We analyzed readers' online responses to Canadian news articles regarding the outbreak to better understand public perceptions of measles and vaccination.
Methods: We searched Canadian online English and French news sites for articles posted between April 2011 and March 2012 containing the words "measles" and "Quebec". We included articles that i) concerned the outbreak or related vaccination strategies; and ii) generated at least ten comments. Two English and two bilingual researchers coded the unedited comments, categorizing codes to allow themes to emerge.
Results: We analyzed 448 comments from 188 individuals, in response to three French articles and six English articles; 112 individuals expressed positive perceptions of measles vaccination (2.2 comments/person), 38 were negative (4.2 comments/person), 11 had mixed feelings (1.5 comments/person), and 27 expressed no opinion (1.1 comments/person). Vaccine-supportive themes involved the success of vaccination in preventing disease spread, societal responsibility to vaccinate for herd immunity, and refutation of the autism link. Those against measles vaccination felt it was a personal rather than societal choice, and conveyed a distrust of vaccine manufacturers, believing that measles infection is not only safe but safer than vaccination. Commenters with mixed feelings expressed uncertainty of the infection's severity, and varied in support of all vaccines based on perceived risk/benefit ratios.
Conclusion: The anti-vaccine minority's volume of comments translates to a disproportionately high representation on online boards. Public health messages should address concerns by emphasizing that immunization is always a personal choice in Canada, and that the pharmaceutical industry is strictly controlled. Illustrating the dangers of measles through personal stories, rather than scientific data only, may also serve to strengthen messaging.
C1 [Pereira, Jennifer A.; Quach, Susan; Kwong, Jeffrey C.; Deeks, Shelley L.; Crowcroft, Natasha S.] Publ Hlth Ontario, Toronto, ON, Canada.
[Dao, Huy Hao; Guay, Maryse] Univ Sherbrooke, Dept Sci Sante Communautaire, Longueuil, PQ, Canada.
[Kwong, Jeffrey C.; Deeks, Shelley L.; Crowcroft, Natasha S.] Univ Toronto, Dalla Lana Sch Publ Hlth, Toronto, ON, Canada.
[Kwong, Jeffrey C.] Inst Clin Evaluat Sci, Toronto, ON, Canada.
[Kwong, Jeffrey C.] Univ Toronto, Dept Family & Community Med, Toronto, ON M5S 1A1, Canada.
[Kwong, Jeffrey C.; Quan, Sherman D.] Univ Hlth Network, Toronto, ON, Canada.
[Crowcroft, Natasha S.] Univ Toronto, Lab Med & Pathobiol, Toronto, ON, Canada.
[Guay, Maryse] Inst Natl Sante Publ Quebec, Longueuil, PQ, Canada.
[Guay, Maryse] Ctr Rech Hop Charles LeMoyne, Longueuil, PQ, Canada.
RP Pereira, JA (reprint author), Publ Hlth Ontario, Toronto, ON, Canada.
EM jennifer.pereira@oahpp.ca
FU Public Health Agency of Canada; Canadian Institutes of Health Research;
Public Health Ontario
FX The Canadian Association for Immunization Research and Evaluation
provided networking assistance. The Public Health Agency of Canada, the
Canadian Institutes of Health Research, and the Public Health Ontario
provided funding. The funders had no role in study design, data
collection and analysis, decision to publish, or preparation of the
manuscript.
CR Castillo-Solorzano CC, 2011, J INFECT DIS, V204, pS270, DOI 10.1093/infdis/jir166
EKOS Research Associates Inc, 2011, SURV PAR KEY ISS REL
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NR 15
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 MAY 15
PY 2013
VL 8
IS 5
AR e64072
DI 10.1371/journal.pone.0064072
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 145XK
UT WOS:000319052700077
PM 23691152
ER
PT J
AU Zhao, KP
Wen, RJ
Wang, XX
Pei, L
Yang, Y
Shang, Y
Bazan, N
Zhu, LQ
Tian, Q
Lu, YM
AF Zhao, Kunpeng
Wen, Ruojian
Wang, Xiaoxi
Pei, Lei
Yang, Ying
Shang, You
Bazan, Nicolas
Zhu, Ling-Qiang
Tian, Qing
Lu, Youming
TI EPAC Inhibition of SUR1 Receptor Increases Glutamate Release and Seizure
Vulnerability
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
ID PRESYNAPTIC CALCIUM; TRANSMITTER RELEASE; VESICLE FUSION; CAMP;
CHANNELS; PROTEIN; AUTISM; EXOCYTOSIS; SYNAPSES; DOMAINS
AB EPAC (Exchange Proteins Activated by cAMP) regulates glutamate transmitter release in the central neurons, but a role underlying this regulation has yet to be identified. Here we show that EPAC binds directly to the intracellular loop of an ATP-sensitive potassium (K-ATP) channel type-1 sulfonylurea receptor (SUR1) receptor consisting of amino acids 859-881 (SUR1(859-881)). Ablation of EPAC or expression of SUR1(859-881), which intercepts EPAC-SUR1 binding, increases the open probability of K-ATP channels consisting of the Kir6.1 subunit and SUR1. Opening of K-ATP channels inhibits glutamate release and reduces seizure vulnerability in adult mice. Therefore, EPAC interaction with SUR1 controls seizure susceptibility and possibly acts via regulation of glutamate release.
C1 [Zhao, Kunpeng; Wen, Ruojian; Wang, Xiaoxi; Pei, Lei; Yang, Ying; Zhu, Ling-Qiang; Tian, Qing; Lu, Youming] Huazhong Univ Sci & Technol, Tongji Med Coll, Key Lab Neurol Dis, Minist Educ, Wuhan 430030, Peoples R China.
[Shang, You; Lu, Youming] Huazhong Univ Sci & Technol, Tongji Med Coll, Union Hosp, Translat Res Ctr, Wuhan 430022, Peoples R China.
[Yang, Ying; Bazan, Nicolas; Lu, Youming] Louisiana State Univ, Sch Med, Neurosci Ctr Excellence, New Orleans, LA 70112 USA.
[Yang, Ying; Bazan, Nicolas; Lu, Youming] Louisiana State Univ, Sch Med, Dept Neurol, New Orleans, LA 70112 USA.
RP Zhu, LQ (reprint author), Huazhong Univ Sci & Technol, Tongji Med Coll, Key Lab Neurol Dis, Minist Educ, Wuhan 430030, Peoples R China.
EM zhulq@mail.hust.edu.cn; tianq@mail.hust.edu.cn; lym@mail.hust.edu.cn
FU National Natural Science Foundation of China [81130079, 91232302,
81200863, 81271404]; New Century Excellent Talent [NCET-10-0241];
Ministry of Science and Technology of China [2011DFG33250]; National
Institute on Aging-National Institutes of Health [R01AG033282]
FX This work was supported by National Natural Science Foundation of China
(Grants 81130079 and 91232302 to Y.L., 81200863 to L.P., and 81271404 to
Q.T.), New Century Excellent Talent (Grant NCET-10-0241 to L.-Q.Z.),
Ministry of Science and Technology of China (Grant 2011DFG33250 to
L.-Q.Z.), and the National Institute on Aging-National Institutes of
Health (Grant R01AG033282 to Y.L.).
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NR 27
TC 0
Z9 0
PU SOC NEUROSCIENCE
PI WASHINGTON
PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA
SN 0270-6474
J9 J NEUROSCI
JI J. Neurosci.
PD MAY 15
PY 2013
VL 33
IS 20
BP 8861
EP 8865
DI 10.1523/JNEUROSCI.5686-12.2013
PG 5
WC Neurosciences
SC Neurosciences & Neurology
GA 146SZ
UT WOS:000319112600026
PM 23678128
ER
PT J
AU He, X
Arrotta, N
Radhakrishnan, D
Wang, Y
Romigh, T
Eng, C
AF He, Xin
Arrotta, Nicholas
Radhakrishnan, Deepa
Wang, Yu
Romigh, Todd
Eng, Charis
TI Cowden Syndrome-Related Mutations in PTEN Associate with Enhanced
Proteasome Activity
SO CANCER RESEARCH
LA English
DT Article
ID ATP-BINDING MOTIFS; TUMOR-SUPPRESSOR; BREAST-CANCER;
PHOSPHATASE-ACTIVITY; CELL LYMPHOMA; UBIQUITIN; BORTEZOMIB; GERMLINE;
ACTIVATION; EXPRESSION
AB Germline mutations in PTEN have been described in a spectrum of syndromes that are collectively known as PTEN hamartoma tumor syndrome (PHTS). In addition to being mutated in the germline in PHTS, somatic loss-of-function PTEN mutations are seen in a wide range of sporadic human tumors. Here, we show evidence of upregulated proteasome activity in PHTS-derived lymphoblasts, Pten knock-in mice and cell lines expressing missense and nonsense PTEN mutations. Notably, elevated nuclear proteasome activity occurred in cells expressing the nuclear mislocalized PTEN-K62R mutant, whereas elevated cytosolic proteasome activity was observed in cells expressing the cytosolic-predominant mutant PTEN (M3M4 and C136R). Treatment with proteasome inhibitor MG-132 was able to restore both nonsense and missense mutant PTEN protein levels in vitro. PHTS patients with destabilizing PTEN mutations and proteasome hyperactivity are more susceptible to develop neurologic symptoms such as mental retardation and autism than mutation-positive patients with normal proteasome activity. A detailed molecular and functional analysis shows that PTEN mutants most likely cause proteasome hyperactivity via 2 different mechanisms, namely, induction of proteotoxic stress and loss of protein phosphatase activity. These results provide novel insights into the cellular functions of PTEN and reveal molecular mechanisms whereby PTEN mutations increase proteasome activity and lead to neurologic phenotypes. Cancer Res; 73(10); 3029-40. (C) 2013 AACR.
C1 [He, Xin; Arrotta, Nicholas; Radhakrishnan, Deepa; Wang, Yu; Romigh, Todd; Eng, Charis] Cleveland Clin, Genom Med Inst, Cleveland, OH 44195 USA.
[Eng, Charis] Cleveland Clin, Taussig Canc Inst, Cleveland, OH 44195 USA.
[Eng, Charis] Cleveland Clin, Stanley Shalom Zielony Inst Nursing Excellence, Cleveland, OH 44195 USA.
[Eng, Charis] Case Western Reserve Univ, Sch Med, Dept Genet & Genome Sci, Cleveland, OH USA.
[Eng, Charis] Case Western Reserve Univ, Sch Med, CASE Comprehens Canc Ctr, Cleveland, OH USA.
RP Eng, C (reprint author), Cleveland Clin, Genom Med Inst, 9500 Euclid Ave,NE 50, Cleveland, OH 44195 USA.
EM engc@ccf.org
FU National Cancer Institute, Bethesda, MD [R01CA118980, P01CA124570];
Doris Duke Distinguished Clinical Scientist Award; F. M. Kirby
Foundation
FX This work was supported by R01CA118980 and P01CA124570 from the National
Cancer Institute, Bethesda, MD (C. Eng). C. Eng was a recipient of the
Doris Duke Distinguished Clinical Scientist Award, is an American Cancer
Society Clinical Research Professor, generously funded, in part, by the
F. M. Kirby Foundation, and is the Sondra J. and Stephen R. Hardis
Endowed Chair of Cancer Genomic Medicine at the Clinical Clinic.
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NR 37
TC 1
Z9 1
PU AMER ASSOC CANCER RESEARCH
PI PHILADELPHIA
PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA
SN 0008-5472
J9 CANCER RES
JI Cancer Res.
PD MAY 15
PY 2013
VL 73
IS 10
BP 3029
EP 3040
DI 10.1158/0008-5472.CAN-12-3811
PG 12
WC Oncology
SC Oncology
GA 143XY
UT WOS:000318903700012
PM 23475934
ER
PT J
AU Zhang, YB
Gao, DH
Kluetzman, K
Mendoza, A
Bolivar, VJ
Reilly, A
Jolly, JK
Lawrence, DA
AF Zhang, Yubin
Gao, Donghong
Kluetzman, Kerri
Mendoza, Alvaro
Bolivar, Valerie J.
Reilly, Andrew
Jolly, Jane K.
Lawrence, David A.
TI The maternal autoimmune environment affects the social behavior of
offspring
SO JOURNAL OF NEUROIMMUNOLOGY
LA English
DT Article
DE Autism; Social behavior; Autoimmune; Neuroinflammation; Cytokines; B
cells and T cells
ID AUTISM SPECTRUM DISORDERS; T-CELLS; IMMUNE DYSREGULATION; PERINATAL
EXPOSURE; PERIPHERAL-BLOOD; CORPUS-CALLOSUM; INBRED STRAINS;
FETAL-BRAIN; CHILDREN; MICE
AB Autism spectrum disorders (ASD) are neurodevelopmental disorders with unknown etiology. BTBR-T(+)tf/J (BTBR) mice, a mouse strain with behaviors that resemble autism and with elevated levels of anti-brain antibodies (Abs), have enhanced activation of peripheral B cells and CD4(+) T cells and an expanded percentage of CD4(+) T cells expressing V(beta)6 chains. The CD4(+)CD25(+)V(beta)6(+) and V(beta)6-splenic cells of BTBR mice have elevated levels of IL-4, IFN-gamma and IL-17, but there appears to be no preferential CD4(+) T subset skewing/polarization. The high level of IgG production by BTBR B cells was dependent on T cells from BTBR mice. The CD4(+) T cells of BTBR mice, especially those expressing V(beta)6 become spontaneously activated and expanded in an autoimmune-like manner, which occurred in both BTBR and B6 hosts that received an equal number of BTBR and B6 bone marrow cells. BTBR mice also have an elevated percentage of peripheral blood neutrophils, which may represent their elevated inflammatory state. B6 offspring derived from B6 dams that were gestationally injected with purified IgG from sera of BTBR mice, but not IgG of B6 mice, developed significantly impaired social behavior. Additionally, B6 offspring that developed in BTBR dams had impaired social behavior, while BTBR offspring that developed in B6 dams had improved social behavior. All of the immunological and behavioral parameters of BTBR mice were compared with those of B6 mice, which have relatively normal behaviors. The results indicate maternal Abs and possibly other maternal influences affect the social behavior of offspring. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Zhang, Yubin; Gao, Donghong; Kluetzman, Kerri; Mendoza, Alvaro; Bolivar, Valerie J.; Reilly, Andrew; Jolly, Jane K.; Lawrence, David A.] New York State Dept Hlth, Wadsworth Ctr, Albany, NY 12208 USA.
[Zhang, Yubin; Bolivar, Valerie J.; Lawrence, David A.] SUNY Albany, Sch Publ Hlth, Albany, NY 12208 USA.
RP Lawrence, DA (reprint author), New York State Dept Hlth, Wadsworth Ctr, Immunol Lab, Albany, NY 12201 USA.
EM lawrencd@wadsworth.org
FU internal Wadsworth Center program for Scientific Interaction Groups; NIH
[U01 ES016014]
FX This work was supported, in part, by funding through the internal
Wadsworth Center program for Scientific Interaction Groups and NIH U01
ES016014.
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NR 69
TC 4
Z9 4
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-5728
J9 J NEUROIMMUNOL
JI J. Neuroimmunol.
PD MAY 15
PY 2013
VL 258
IS 1-2
BP 51
EP 60
DI 10.1016/j.jneuroim.2013.02.019
PG 10
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA 143AC
UT WOS:000318837700007
PM 23537887
ER
PT J
AU Iqbal, Z
Vandeweyer, G
van der Voet, M
Waryah, AM
Zahoor, MY
Besseling, JA
Roca, LT
Vulto-van Silfhout, AT
Nijhof, B
Kramer, JM
Van der Aa, N
Ansar, M
Peeters, H
Helsmoortel, C
Gilissen, C
Vissers, LELM
Veltman, JA
de Brouwer, APM
Kooy, RF
Riazuddin, S
Schenck, A
van Bokhoven, H
Rooms, L
AF Iqbal, Zafar
Vandeweyer, Geert
van der Voet, Monique
Waryah, Ali Muhammad
Zahoor, Muhammad Yasir
Besseling, Judith A.
Roca, Laura Tomas
Vulto-van Silfhout, Anneke T.
Nijhof, Bonnie
Kramer, Jamie M.
Van der Aa, Nathalie
Ansar, Muhammad
Peeters, Hilde
Helsmoortel, Celine
Gilissen, Christian
Vissers, Lisenka E. L. M.
Veltman, Joris A.
de Brouwer, Arjan P. M.
Kooy, R. Frank
Riazuddin, Sheikh
Schenck, Annette
van Bokhoven, Hans
Rooms, Liesbeth
TI Homozygous and heterozygous disruptions of ANK3: at the crossroads of
neurodevelopmental and psychiatric disorders
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY
DISORDER; GENOME-WIDE ASSOCIATION; MENTAL-RETARDATION; BIPOLAR DISORDER;
AXONAL LOCALIZATION; MEMORY DEFICITS; CELL-ADHESION; AUTISM; DROSOPHILA
AB AnkyrinG, encoded by the ANK3 gene, is involved in neuronal development and signaling. It has previously been implicated in bipolar disorder and schizophrenia by association studies. Most recently, de novo missense mutations in this gene were identified in autistic patients. However, the causative nature of these mutations remained controversial. Here, we report inactivating mutations in the Ankyrin 3 (ANK3) gene in patients with severe cognitive deficits. In a patient with a borderline intelligence, severe attention deficit hyperactivity disorder (ADHD), autism and sleeping problems, all isoforms of the ANK3 gene, were disrupted by a balanced translocation. Furthermore, in a consanguineous family with moderate intellectual disability (ID), an ADHD-like phenotype and behavioral problems, we identified a homozygous truncating frameshift mutation in the longest isoform of the same gene, which represents the first reported familial mutation in the ANK3 gene. The causality of ANK3 mutations in the two families and the role of the gene in cognitive function were supported by memory defects in a Drosophila knockdown model. Thus we demonstrated that ANK3 plays a role in intellectual functioning. In addition, our findings support the suggested association of ANK3 with various neuropsychiatric disorders and illustrate the genetic and molecular relation between a wide range of neurodevelopmental disorders.
C1 [Iqbal, Zafar; van der Voet, Monique; Besseling, Judith A.; Roca, Laura Tomas; Vulto-van Silfhout, Anneke T.; Nijhof, Bonnie; Kramer, Jamie M.; Ansar, Muhammad; Gilissen, Christian; Vissers, Lisenka E. L. M.; Veltman, Joris A.; de Brouwer, Arjan P. M.; Schenck, Annette; van Bokhoven, Hans] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.
[Iqbal, Zafar; van der Voet, Monique; Besseling, Judith A.; Roca, Laura Tomas; Nijhof, Bonnie; Kramer, Jamie M.; Schenck, Annette; van Bokhoven, Hans] Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, NL-6525 ED Nijmegen, Netherlands.
[Iqbal, Zafar; van der Voet, Monique; Besseling, Judith A.; Roca, Laura Tomas; Nijhof, Bonnie; Kramer, Jamie M.; Schenck, Annette; van Bokhoven, Hans] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands.
[de Brouwer, Arjan P. M.] Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, NL-6525 ED Nijmegen, Netherlands.
[Vandeweyer, Geert; Van der Aa, Nathalie; Helsmoortel, Celine; Kooy, R. Frank; Rooms, Liesbeth] Univ Antwerp, Dept Med Genet, B-2020 Antwerp, Belgium.
[Vandeweyer, Geert; Van der Aa, Nathalie; Helsmoortel, Celine; Kooy, R. Frank; Rooms, Liesbeth] Univ Antwerp Hosp, Antwerp, Belgium.
[Waryah, Ali Muhammad; Zahoor, Muhammad Yasir; Ansar, Muhammad; Riazuddin, Sheikh] Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore 53700, Pakistan.
[Waryah, Ali Muhammad; Zahoor, Muhammad Yasir; Riazuddin, Sheikh] Allama Iqbal Med Coll, Lahore 54550, Pakistan.
[Waryah, Ali Muhammad] Liaquat Univ Med & Hlth Sci, Mol Biol & Genet Dept, Med Res Ctr, Jamshoro, Pakistan.
[Ansar, Muhammad] King Edward Med Univ, Adv Ctr Biomed Sci, Lahore, Pakistan.
[Peeters, Hilde] Katholieke Univ Leuven Hosp, Ctr Human Genet, Louvain, Belgium.
RP Schenck, A (reprint author), Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.
EM A.Schenck@gen.umcn.nl; H.vanBokhoven@gen.umcn.nl;
liesbeth.rooms@ua.ac.be
RI Gilissen, Christian/E-5246-2012; Schenck, Annette/E-4514-2012; Vissers,
Lisenka/A-2598-2015; Veltman, Joris/F-5128-2010; van der Voet,
Monique/F-5772-2012
OI Gilissen, Christian/0000-0003-1693-9699; Schenck,
Annette/0000-0002-6918-3314; van der Voet, Monique/0000-0002-8829-1767
FU European Union [241995]; project GENCODYS; Dutch Brain Foundation
[2010(1)-30]; brain and cognition excellence program [433-09-229];
Netherlands Organization for Health Research and Development (ZonMW)
[VIDI 917-96-346]; Belgian Nation Fund for Scientific Research -
Flanders (FWO); Marguerite-Marie Delacroix foundation; Higher Education
Commission (HEC), Islamabad, Pakistan
FX This work was supported by the European Union's Seventh Framework
Program (grant agreement number 241995), project GENCODYS (to A. S., S.
R. and H. v. B.), by the Dutch Brain Foundation (2010(1)-30 to A.d.B.)
and brain and cognition excellence program (433-09-229 to M.v.d.V and A.
S.) and by the Netherlands Organization for Health Research and
Development (ZonMW; VIDI 917-96-346 to A. S.). This work was further
supported by the Belgian Nation Fund for Scientific Research - Flanders
(FWO) (to R. F. K., L. R. and N.V.A.) and the Marguerite-Marie Delacroix
foundation. Z.I. was supported by Higher Education Commission (HEC),
Islamabad, Pakistan.
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NR 74
TC 17
Z9 17
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD MAY 15
PY 2013
VL 22
IS 10
BP 1960
EP 1970
DI 10.1093/hmg/ddt043
PG 11
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 139CL
UT WOS:000318559000005
PM 23390136
ER
PT J
AU Natarajan, R
Trivedi-Vyas, D
Wairkar, YP
AF Natarajan, Rajalaxmi
Trivedi-Vyas, Deepti
Wairkar, Yogesh P.
TI Tuberous sclerosis complex regulates Drosophila neuromuscular junction
growth via the TORC2/Akt pathway
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID TUMOR-SUPPRESSOR PROTEINS; MAMMALIAN TARGET; CELL-GROWTH; ACTIVE ZONE;
RAPAMYCIN TREATMENT; SYNAPTIC GROWTH; GENE-PRODUCTS; AKT; KINASE; TSC1
AB Mutations in the tuberous sclerosis complex (TSC) are associated with various forms of neurodevelopmental disorders, including autism and epilepsy. The heterodimeric TSC complex, consisting of Tsc1 and Tsc2 proteins, regulates the activity of the TOR (target of rapamycin) complex via Rheb, a small GTPase. TOR, an atypical serine/threonine kinase, forms two distinct complexes TORC1 and TORC2. Raptor and Rictor serve as specific functional components of TORC1 and TORC2, respectively. Previous studies have identified Tsc1 as a regulator of hippocampal neuronal morphology and function via the TOR pathway, but it is unclear whether this is mediated via TORC1 or TORC2. In a genetic screen for aberrant synaptic growth at the neuromuscular junctions (NMJs) in Drosophila, we identified that Tsc2 mutants showed increased synaptic growth. Increased synaptic growth was also observed in rictor mutants, while raptor knockdown did not phenocopy the TSC mutant phenotype, suggesting that a novel role exists for TORC2 in regulating synapse growth. Furthermore, Tsc2 mutants showed a dramatic decrease in the levels of phosphorylated Akt, and interestingly, Akt mutants phenocopied Tsc2 mutants, leading to the hypothesis that Tsc2 and Akt might work via the same genetic pathway to regulate synapse growth. Indeed, transheterozygous analysis of Tsc2 and Akt mutants confirmed this hypothesis. Finally, our data also suggest that while overexpression of rheb results in aberrant synaptic overgrowth, the overgrowth might be independent of TORC2. Thus, we propose that at the Drosophila NMJ, TSC regulates synaptic growth via the TORC2-Akt pathway.
C1 [Wairkar, Yogesh P.] Univ Texas Med Branch, Dept Neurol, Galveston, TX 77555 USA.
Univ Texas Med Branch, George & Cynthia Mitchell Ctr Neurodegenerat Dis, Galveston, TX 77555 USA.
RP Wairkar, YP (reprint author), Univ Texas Med Branch, Dept Neurol, Rte 1045,301 Univ Blvd, Galveston, TX 77555 USA.
EM yowairka@utmb.edu
FU University of Texas system; University of Texas Medical Branch
FX This project was started in the laboratory of Aaron DiAntonio at the
Washington University Medical School. A STARS award from the University
of Texas system and startup funds from the University of Texas Medical
Branch to Y.P.W. supported this work. We would like to thank the fly
stock center at Bloomington for the flies used in this study and Dr(s)
Jongkyeong Chung and Tian Xu for the gift of rictor mutant flies and
raptor RNAi lines and UAS-gig lines. We thank the Hybridoma Bank at
University of Iowa for many antibodies used in this study and Aaron
DiAntonio, Ben Eaton, Cathy Collins, George Jackson, Rakez Kayed, N.
Muge Kuyumcu-Martinez and Shreyasi Chatterjee for critical reading of
the manuscript. We also wish to thank Xiaolu Sun, Lhia Dolores and
Shramika Adhikary for their excellent technical help.
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NR 65
TC 2
Z9 2
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD MAY 15
PY 2013
VL 22
IS 10
BP 2010
EP 2023
DI 10.1093/hmg/ddt053
PG 14
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 139CL
UT WOS:000318559000009
PM 23393158
ER
PT J
AU Lionel, AC
Vaags, AK
Sato, D
Gazzellone, MJ
Mitchell, EB
Chen, HY
Costain, G
Walker, S
Egger, G
Thiruvahindrapuram, B
Merico, D
Prasad, A
Anagnostou, E
Fombonne, E
Zwaigenbaum, L
Roberts, W
Szatmari, P
Fernandez, BA
Georgieva, L
Brzustowicz, LM
Roetzer, K
Kaschnitz, W
Vincent, JB
Windpassinger, C
Marshall, CR
Trifiletti, RR
Kirmani, S
Kirov, G
Petek, E
Hodge, JC
Bassett, AS
Scherer, SW
AF Lionel, Anath C.
Vaags, Andrea K.
Sato, Daisuke
Gazzellone, Matthew J.
Mitchell, Elyse B.
Chen, Hong Yang
Costain, Gregory
Walker, Susan
Egger, Gerald
Thiruvahindrapuram, Bhooma
Merico, Daniele
Prasad, Aparna
Anagnostou, Evdokia
Fombonne, Eric
Zwaigenbaum, Lonnie
Roberts, Wendy
Szatmari, Peter
Fernandez, Bridget A.
Georgieva, Lyudmila
Brzustowicz, Linda M.
Roetzer, Katharina
Kaschnitz, Wolfgang
Vincent, John B.
Windpassinger, Christian
Marshall, Christian R.
Trifiletti, Rosario R.
Kirmani, Salman
Kirov, George
Petek, Erwin
Hodge, Jennelle C.
Bassett, Anne S.
Scherer, Stephen W.
TI Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN)
in risk for autism, schizophrenia and seizures
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID MOLYBDENUM COFACTOR DEFICIENCY; SCAFFOLDING PROTEIN SHANK3;
TEMPORAL-LOBE EPILEPSY; COPY NUMBER VARIATION; SPECTRUM DISORDERS;
MENTAL-RETARDATION; MOLECULAR CHARACTERIZATION; PSYCHIATRIC-DISORDERS;
BIPOLAR DISORDER; CANDIDATE GENES
AB The GPHN gene codes for gephyrin, a key scaffolding protein in the neuronal postsynaptic membrane, responsible for the clustering and localization of glycine and GABA receptors at inhibitory synapses. Gephyrin has well-established functional links with several synaptic proteins that have been implicated in genetic risk for neurodevelopmental disorders such as autism spectrum disorder (ASD), schizophrenia and epilepsy including the neuroligins (NLGN2, NLGN4), the neurexins (NRXN1, NRXN2, NRXN3) and collybistin (ARHGEF9). Moreover, temporal lobe epilepsy has been linked to abnormally spliced GPHN mRNA lacking exons encoding the G-domain of the gephyrin protein, potentially arising due to cellular stress associated with epileptogenesis such as temperature and alkalosis. Here, we present clinical and genomic characterization of six unrelated subjects, with a range of neurodevelopmental diagnoses including ASD, schizophrenia or seizures, who possess rare de novo or inherited hemizygous microdeletions overlapping exons of GPHN at chromosome 14q23.3. The region of common overlap across the deletions encompasses exons 35, corresponding to the G-domain of the gephyrin protein. These findings, together with previous reports of homozygous GPHN mutations in connection with autosomal recessive molybdenum cofactor deficiency, will aid in clinical genetic interpretation of the GPHN mutation spectrum. Our data also add to the accumulating evidence implicating neuronal synaptic gene products as key molecular factors underlying the etiologies of a diverse range of neurodevelopmental conditions.
C1 [Lionel, Anath C.; Vaags, Andrea K.; Sato, Daisuke; Gazzellone, Matthew J.; Mitchell, Elyse B.; Chen, Hong Yang; Walker, Susan; Thiruvahindrapuram, Bhooma; Merico, Daniele; Prasad, Aparna; Marshall, Christian R.; Scherer, Stephen W.] Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1L7, Canada.
[Lionel, Anath C.; Vaags, Andrea K.; Sato, Daisuke; Gazzellone, Matthew J.; Chen, Hong Yang; Walker, Susan; Thiruvahindrapuram, Bhooma; Merico, Daniele; Prasad, Aparna; Marshall, Christian R.; Scherer, Stephen W.] Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON M5G 1L7, Canada.
[Lionel, Anath C.; Gazzellone, Matthew J.; Marshall, Christian R.; Scherer, Stephen W.] Univ Toronto, Dept Mol Genet, Toronto, ON M5G 1L7, Canada.
[Lionel, Anath C.; Gazzellone, Matthew J.; Marshall, Christian R.; Scherer, Stephen W.] Univ Toronto, McLaughlin Ctr, Toronto, ON M5G 1L7, Canada.
[Costain, Gregory; Bassett, Anne S.] Ctr Addict & Mental Hlth, Neurogenet Sect, Clin Genet Res Program, Toronto, ON M5S 2S1, Canada.
[Egger, Gerald; Vincent, John B.] Ctr Addict & Mental Hlth, Neurogenet Sect, Mol Neuropsychiat & Dev Lab, Toronto, ON M5S 2S1, Canada.
[Anagnostou, Evdokia] Univ Toronto, Bloorview Res Inst, Toronto, ON M4G 1R8, Canada.
[Fombonne, Eric] Montreal Childrens Hosp, Dept Psychiat, Montreal, PQ H3Z 1P2, Canada.
[Fombonne, Eric] McGill Univ, Montreal, PQ H3Z 1P2, Canada.
[Zwaigenbaum, Lonnie] Univ Alberta, Dept Pediat, Edmonton, AB T5G 0B7, Canada.
[Roberts, Wendy] Hosp Sick Children, Autism Res Unit, Toronto, ON M5G 1X8, Canada.
[Szatmari, Peter] McMaster Univ, Dept Psychiat & Behav Neurosci, Offord Ctr Child Studies, Hamilton, ON L8S 4K1, Canada.
[Fernandez, Bridget A.] Mem Univ Newfoundland, Discipline Genet, St John, NF A1B 3V6, Canada.
[Fernandez, Bridget A.] Mem Univ Newfoundland, Discipline Med, St John, NF A1B 3V6, Canada.
[Vincent, John B.] Univ Toronto, Dept Psychiat, Toronto, ON M5T 1R8, Canada.
[Mitchell, Elyse B.; Hodge, Jennelle C.] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA.
[Kirmani, Salman; Hodge, Jennelle C.] Mayo Clin, Dept Med Genet, Rochester, MN 55905 USA.
[Trifiletti, Rosario R.] UMDNJ New Jersey Med Sch, Dept Neurol, Newark, NJ 07101 USA.
[Brzustowicz, Linda M.] Rutgers State Univ, Dept Genet, Piscataway, NJ 08854 USA.
[Egger, Gerald; Windpassinger, Christian; Petek, Erwin] Med Univ Graz, Inst Human Genet, A-8036 Graz, Austria.
[Roetzer, Katharina; Kaschnitz, Wolfgang] Med Univ Graz, Univ Klin Kinder & Jugendheilkunde, A-8036 Graz, Austria.
[Georgieva, Lyudmila; Kirov, George] Cardiff Univ, Dept Psychol Med & Neurol, MRC Ctr Neuropsychiat Genet & Genom, Cardiff CF14 4XN, S Glam, Wales.
RP Scherer, SW (reprint author), Hosp Sick Children, Ctr Appl Genom, MaRS Ctr, East Tower,101 Coll St,Room 14-704, Toronto, ON M5G 1L7, Canada.
EM stephen.scherer@sickkids.ca
RI Scherer, Stephen /B-3785-2013
OI Scherer, Stephen /0000-0002-8326-1999
FU NeuroDevNet; University of Toronto McLaughlin Centre; Genome Canada;
Ontario Genomics Institute; Canadian Institutes for Health Research
(CIHR); Canadian Institute for Advanced Research; Canada Foundation for
Innovation; Government of Ontario; Autism Speaks; Hospital for Sick
Children Foundation; ONB Jubilaumsfonds [13226]; NeuroDevNet doctoral
fellowship; CIHR Autism Training Program; CIHR [MOP-89066, MOP-111238]
FX This work was supported by grants from NeuroDevNet, the University of
Toronto McLaughlin Centre, Genome Canada and the Ontario Genomics
Institute, the Canadian Institutes for Health Research (CIHR), the
Canadian Institute for Advanced Research, the Canada Foundation for
Innovation, the Government of Ontario, Autism Speaks, The Hospital for
Sick Children Foundation and ONB Jubilaumsfonds (Project Number: 13226).
The control data sets were obtained, along with permission for use, from
the database of Genotype and Phenotype database (dbGaP) found at
http://www.ncbi.nlm.nih.gov/gap through accession numbers
phs000143.v1.p1 (Starr County Study), phs000091.v2.p1 (GENEVA NHS/HPFS
study) and phs000169.v1.p1 (HABC study). A. C. L. holds a NeuroDevNet
doctoral fellowship. A. P. was supported by a fellowship from the CIHR
Autism Training Program. A.S.B. holds the Canada Research Chair in
Schizophrenia Genetics and Genomic Disorders and received funding
support from CIHR grants MOP-89066 and MOP-111238. S. W. S. holds the
GlaxoSmithKline-CIHR Chair in Genome Sciences at the University of
Toronto and The Hospital for Sick Children.
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NR 101
TC 21
Z9 21
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD MAY 15
PY 2013
VL 22
IS 10
BP 2055
EP 2066
DI 10.1093/hmg/ddt056
PG 12
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 139CL
UT WOS:000318559000012
PM 23393157
ER
PT J
AU Whitney, J
Howe, M
Shoemaker, V
Li, S
Sanders, EM
Dijamco, C
Acquaye, T
Phillips, J
Singh, M
Chang, K
AF Whitney, Jane
Howe, Meghan
Shoemaker, Virginia
Li, Sherrie
Sanders, Erica Marie
Dijamco, Cheri
Acquaye, Tenah
Phillips, Jennifer
Singh, Manpreet
Chang, Kiki
TI Socio-emotional processing and functioning of youth at high risk for
bipolar disorder
SO JOURNAL OF AFFECTIVE DISORDERS
LA English
DT Article
DE Pediatric bipolar disorder; Bipolar offspring; Social reciprocity;
Theory of mind; Affect recognition
ID EMOTION LABELING DEFICITS; ANXIETY DISORDERS; SPECTRUM DISORDER;
RATING-SCALE; CHILDREN; AUTISM; MOOD; ADOLESCENTS; RELIABILITY; ONSET
AB Background: The goal of this study was to investigate differences in socio-emotional processing and functioning in children and adolescents at high risk for bipolar disorder (BD) and healthy control participants.
Methods: Children and adolescents with a parent with bipolar disorder, who had mood dysregulation but not fully syndromal BD (high risk, HR, n=24), were compared to participants with no personal or family history of psychopathology (healthy control, HC, n=27) across several neuropsychological domains. Social reciprocity was measured by the Social Responsiveness Scale, theory of mind was measured by use of the NEPSY, and affect recognition was measured by the NEPSY and the Diagnostic Test of Nonverbal Accuracy 2 (DANVA).
Results: The HR group demonstrated significant impairment in social reciprocity, including impairments in social awareness, social cognition, social communication, social motivation, and autistic mannerisms. There were no significant group differences in performance on theory of mind or affect recognition tasks.
Limitations: Lack of impairment in tasks associated with theory of mind or affect recognition indicate that social functioning difficulties are not likely due to impairments in these areas, or that the measures employed were not sufficiently sensitive to detect group differences.
Conclusions: Youth at high risk for BD demonstrated impairments in numerous social domains, which may be due to innate differences in brain development governing socio-emotional functioning or may be due to disruptions in normal development caused by mood regulation difficulties. (C) 2012 Elsevier B.V. All rights reserved.
C1 [Whitney, Jane; Howe, Meghan; Shoemaker, Virginia; Li, Sherrie; Sanders, Erica Marie; Dijamco, Cheri; Acquaye, Tenah; Singh, Manpreet; Chang, Kiki] Stanford Univ, Pediat Bipolar Disorders Program, Stanford, CA 94305 USA.
[Howe, Meghan; Shoemaker, Virginia; Li, Sherrie; Sanders, Erica Marie; Dijamco, Cheri; Acquaye, Tenah; Phillips, Jennifer; Singh, Manpreet; Chang, Kiki] Stanford Univ, Div Child & Adolescent Psychiat, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA.
RP Whitney, J (reprint author), 401 Quarry Rd, Stanford, CA 94305 USA.
EM jane.whitney@gmail.com
FU National Institute of Mental Health [R01 MH077047, K23 MH085919];
Stanford Medical Scholars Fellowship Program; GlaxoSmithKline; Merck
FX Funding to support this study was provided by the National Institute of
Mental Health (R01 MH077047; K23 MH085919) and the Stanford Medical
Scholars Fellowship Program.Dr. Chang is a consultant for
GlaxoSmithKline, Eli Lilly and Company, Bristol-Myers Squibb, and Merck;
he receives research support from GlaxoSmithKline, Merck, and the
National Institute of Mental Health. All other authors declare no
conflicts of interest.
CR Bella T., 2011, J AFFECTIVE DISORDER
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NR 36
TC 9
Z9 9
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-0327
J9 J AFFECT DISORDERS
JI J. Affect. Disord.
PD MAY 15
PY 2013
VL 148
IS 1
BP 112
EP 117
DI 10.1016/j.jad.2012.08.016
PG 6
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 139DY
UT WOS:000318563000016
PM 23123133
ER
PT J
AU Plon, M
AF Plon, Michel
TI GET THE BETTER OF AUTISM Parents, these truths which they hide from you
SO QUINZAINE LITTERAIRE
LA French
DT Book Review
CR REYFLAUD H, SORTIR AUTISME PAREN
NR 1
TC 0
Z9 0
PU QUINZAINE LITTERAIRE
PI PARIS
PA 135 RUE SAINT-MARTIN, 75194 PARIS, FRANCE
SN 0048-6493
J9 QUINZAINE LITTERAIRE
JI Quinz. Litt.
PD MAY 15
PY 2013
IS 1083
BP 22
EP 23
PG 2
WC Literature
SC Literature
GA V37HE
UT WOS:000209266100024
ER
PT J
AU Fonville, L
Lao-Kaim, NP
Giampietro, V
Van den Eynde, F
Davies, H
Lounes, N
Andrew, C
Dalton, J
Simmons, A
Williams, SCR
Baron-Cohen, S
Tchanturia, K
AF Fonville, Leon
Lao-Kaim, Nick P.
Giampietro, Vincent
Van den Eynde, Frederique
Davies, Helen
Lounes, Naima
Andrew, Christopher
Dalton, Jeffrey
Simmons, Andrew
Williams, Steven C. R.
Baron-Cohen, Simon
Tchanturia, Kate
TI Evaluation of Enhanced Attention to Local Detail in Anorexia Nervosa
Using the Embedded Figures Test; an fMRI Study
SO PLOS ONE
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; GENERIC BRAIN ACTIVATION; EATING-DISORDERS;
CENTRAL COHERENCE; COGNITIVE REMEDIATION; EXECUTIVE FUNCTIONS;
ASPERGER-SYNDROME; TASK-PERFORMANCE; WEAK COHERENCE; ONSET
AB The behavioural literature in anorexia nervosa and autism spectrum disorders has indicated an overlap in cognitive profiles. One such domain is the enhancement of local processing over global processing. While functional imaging studies of autism spectrum disorder have revealed differential neural patterns compared to controls in response to tests of local versus global processing, no studies have explored such effects in anorexia nervosa. This study uses functional magnetic resonance imaging in conjunction with the embedded figures test, to explore the neural correlates of this enhanced attention to detail in the largest anorexia nervosa cohort to date. On the embedded figures tests participants are required to indicate which of two complex figures contains a simple geometrical shape. The findings indicate that whilst healthy controls showed greater accuracy on the task than people with anorexia nervosa, different brain regions were recruited. Healthy controls showed greater activation in the precuneus whilst people with anorexia nervosa showed greater activation in the fusiform gyrus. This suggests that different cognitive strategies were used to perform the task, i.e. healthy controls demonstrated greater emphasis on visuospatial searching and people with anorexia nervosa employed a more object recognition-based approach. This is in accordance with previous findings in autism spectrum disorder using a similar methodology and has implications for therapies addressing the appropriate adjustment of cognitive strategies in anorexia nervosa.
C1 [Fonville, Leon; Lao-Kaim, Nick P.; Van den Eynde, Frederique; Davies, Helen; Lounes, Naima; Tchanturia, Kate] Kings Coll London, Inst Psychiat, Dept Psychol Med, London WC2R 2LS, England.
[Giampietro, Vincent; Andrew, Christopher; Dalton, Jeffrey; Simmons, Andrew; Williams, Steven C. R.] Kings Coll London, Inst Psychiat, Dept Neuroimaging, London WC2R 2LS, England.
[Simmons, Andrew; Williams, Steven C. R.] South London & Maudsley NHS Fdn Trust, NIHR Biomed Res Ctr Mental Hlth, London WC2R 2LS, England.
[Simmons, Andrew; Williams, Steven C. R.] Kings Coll London, Inst Psychiat, London WC2R 2LS, England.
[Baron-Cohen, Simon] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England.
[Van den Eynde, Frederique] McGill Univ, Dept Psychiat, Douglas Univ Inst, Eating Disorders Program, Montreal, PQ, Canada.
RP Tchanturia, K (reprint author), Kings Coll London, Inst Psychiat, Dept Psychol Med, London WC2R 2LS, England.
EM kate.tchanturia@kcl.ac.uk
RI Giampietro, Vincent/D-1279-2011; Williams, Steve/D-6979-2011; Simmons,
Andrew/B-8848-2008
OI Giampietro, Vincent/0000-0002-9381-8201; Simmons,
Andrew/0000-0003-2306-5811
FU Swiss Anorexia Foundation; Biomedical Research Centre for Mental Health,
South London and Maudsley NHS Foundation Trust and Institute of
Psychiatry, King's College London
FX This work was supported by the Swiss Anorexia Foundation and the
Biomedical Research Centre for Mental Health, South London and Maudsley
NHS Foundation Trust and Institute of Psychiatry, King's College London.
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 11
Z9 11
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 MAY 14
PY 2013
VL 8
IS 5
AR e63964
DI 10.1371/journal.pone.0063964
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 146RE
UT WOS:000319107400092
PM 23691129
ER
PT J
AU Ginsberg, MR
Rubin, RA
Natowicz, MR
AF Ginsberg, Matthew R.
Rubin, Robert A.
Natowicz, Marvin R.
TI Patterning of Regional Gene Expression in Autism: New Complexity
SO SCIENTIFIC REPORTS
LA English
DT Article
ID LISTS
AB Autism is a common and often severe neurodevelopmental disorder for which diverse pathophysiological processes have been proposed. Recent gene expression data comparing autistic and control brains suggest that the normal differential gene expression between frontal and temporal cortex is attenuated in autistic brains. It is unknown if regional de-differentiation occurs elsewhere in autistic brain. Using high resolution, genome-wide RNA expression microarrays and brain specimens meeting stringent selection criteria we evaluated gene expression data of two other regions: Brodmann area 19 (occipital cortex) and cerebellar cortex. In contrast to frontal/temporal cortical data, our data do not indicate an attenuation of regional specialization between occipital and cerebellar cortical regions in autistic brains.
C1 [Ginsberg, Matthew R.; Natowicz, Marvin R.] Cleveland Clin, Cleveland Clin Lerner Coll Med, Cleveland, OH 44106 USA.
[Rubin, Robert A.] Whittier Coll, Dept Math, Whittier, CA USA.
[Natowicz, Marvin R.] Cleveland Clin, Neurol Inst, Cleveland, OH 44106 USA.
[Natowicz, Marvin R.] Cleveland Clin, Inst Pediat, Cleveland, OH 44106 USA.
RP Natowicz, MR (reprint author), Cleveland Clin, Cleveland Clin Lerner Coll Med, Cleveland, OH 44106 USA.
EM natowim@ccf.org
FU Autism Research Institute; Research Program Committee of the Cleveland
Clinic
FX We are grateful to the families who provided specimens from their loved
ones for research and for the efforts of the Autism Tissue Program,
Harvard Brain Tissue Resource Center and the National Institute for
Child Health and Human Development Brain and Tissue Bank. We thank the
Autism Research Institute and the Research Program Committee of the
Cleveland Clinic for support of this work.
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NR 12
TC 2
Z9 2
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2045-2322
J9 SCI REP-UK
JI Sci Rep
PD MAY 13
PY 2013
VL 3
AR 1831
DI 10.1038/srep01831
PG 3
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 141XA
UT WOS:000318758600002
PM 23665920
ER
PT J
AU Riby, DM
Hancock, PJB
Jones, N
Hanley, M
AF Riby, Deborah M.
Hancock, Peter J. B.
Jones, Nicola
Hanley, Mary
TI Spontaneous and cued gaze-following in autism and Williams syndrome
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Williams syndrome; Autism; Gaze behavior; Social attention; Social
cognition
ID TRACKING EYE-MOVEMENTS; SPECTRUM DISORDERS; YOUNG-CHILDREN; ATTENTION;
INDIVIDUALS; FACES; PERCEPTION; COMPETENCE; PREVALENCE; DIRECTION
AB Background: From a young age the typical development of social functioning relies upon the allocation of attention to socially relevant information, which in turn allows experience at processing such information and thus enhances social cognition. As such, research has attempted to identify the developmental processes that are derailed in some neuro-developmental disorders that impact upon social functioning. Williams syndrome (WS) and autism are disorders of development that are characterized by atypical yet divergent social phenotypes and atypicalities of attention to people.
Methods: We used eye tracking to explore how individuals with WS and autism attended to, and subsequently interpreted, an actor's eye gaze cue within a social scene. Images were presented for 3 seconds, initially with an instruction simply to look at the picture. The images were then shown again, with the participant asked to identify the object being looked at. Allocation of eye gaze in each condition was analyzed by analysis of variance and accuracy of identification was compared with t tests.
Results: Participants with WS allocated more gaze time to face and eyes than their matched controls, both with and without being asked to identify the item being looked at; while participants with autism spent less time on face and eyes in both conditions. When cued to follow gaze, participants with WS increased gaze to the correct targets; those with autism looked more at the face and eyes but did not increase gaze to the correct targets, while continuing to look much more than their controls at implausible targets. Both groups identified fewer objects than their controls.
Conclusions: The atypicalities found are likely to be entwined with the deficits shown in interpreting social cognitive cues from the images. WS and autism are characterized by atypicalities of social attention that impact upon socio-cognitive expertise, but, importantly, the type of atypicality is syndrome specific.
C1 [Riby, Deborah M.] Newcastle Univ, Sch Psychol, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
[Hancock, Peter J. B.] Univ Stirling, Sch Nat Sci, Stirling FK9 4LA, Scotland.
[Jones, Nicola] Northumbria Univ, Dept Psychol, Newcastle Upon Tyne NE1 8ST, Tyne & Wear, England.
[Hanley, Mary] Queens Univ Belfast, Sch Psychol, Belfast BT7 1NN, Antrim, North Ireland.
RP Hancock, PJB (reprint author), Univ Stirling, Sch Nat Sci, Stirling FK9 4LA, Scotland.
EM pjbh1@stir.ac.uk
RI Hancock, Peter/A-4633-2009
OI Hancock, Peter/0000-0001-6025-7068
FU Economic & Social Research Council [R000222030]; Nuffield Foundation
FX This work was supported by a funding from the Economic & Social Research
Council (R000222030) to PJBH and DMR and from the Nuffield Foundation to
DMR.
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NR 53
TC 3
Z9 3
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD MAY 10
PY 2013
VL 5
AR 13
DI 10.1186/1866-1955-5-13
PG 11
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA 212EL
UT WOS:000323965000001
PM 23663405
ER
PT J
AU Stefano, GB
Ptacek, R
Kuzelova, H
Mantione, KJ
Raboch, J
Papezova, H
Kream, RM
AF Stefano, George B.
Ptacek, Radek
Kuzelova, Hana
Mantione, Kirk J.
Raboch, Jiri
Papezova, Hana
Kream, Richard M.
TI Convergent dysregulation of frontal cortical cognitive and reward
systems in eating disorders
SO MEDICAL SCIENCE MONITOR
LA English
DT Review
DE cognition; reward systems; eating disorders; frontal cortex; binge
eating; bulimia; anorexia; dopamine; morphine
ID BODY-IMAGE DISTORTION; DEFICIT HYPERACTIVITY DISORDER; MU-OPIOID
RECEPTOR; ANOREXIA-NERVOSA; BULIMIA-NERVOSA; PREFRONTAL CORTEX;
ENDOGENOUS MORPHINE; FUNCTIONAL NEUROANATOMY; BEHAVIORAL FLEXIBILITY;
SCHIZOPHRENIA
AB A substantive literature has drawn a compelling case for the functional involvement of mesolimbic/prefrontal cortical neural reward systems in normative control of eating and in the etiology and persistence of severe eating disorders that affect diverse human populations. Presently, we provide a short review that develops an equally compelling case for the importance of dysregulated frontal cortical cognitive neural networks acting in concert with regional reward systems in the regulation of complex eating behaviors and in the presentation of complex pathophysiological symptoms associated with major eating disorders. Our goal is to highlight working models of major eating disorders that incorporate complementary approaches to elucidate functionally interactive neural circuits defined by their regulatory neurochemical phenotypes. Importantly, we also review evidence-based linkages between widely studied psychiatric and neurodegenerative syndromes (e.g., autism spectrum disorders and Parkinson's disease) and co-morbid eating disorders to elucidate basic mechanisms involving dopaminergic transmission and its regulation by endogenously expressed morphine in these same cortical regions.
C1 [Stefano, George B.; Ptacek, Radek; Kuzelova, Hana; Raboch, Jiri; Papezova, Hana; Kream, Richard M.] Charles Univ Prague, Fac Med 1, Ctr Mol & Cognit Neurosci, Prague, Czech Republic.
[Stefano, George B.; Mantione, Kirk J.; Kream, Richard M.] SUNY Coll Old Westbury, Neurosci Res Inst, Old Westbury, NY 11568 USA.
[Kuzelova, Hana] Charles Univ Prague, Fac Med 2, Dept Biol & Med Genet, Prague, Czech Republic.
RP Stefano, GB (reprint author), Charles Univ Prague, Fac Med 1, Ctr Mol & Cognit Neurosci, Prague, Czech Republic.
EM gstefano@sunynri.org
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NR 62
TC 3
Z9 3
PU INT SCIENTIFIC LITERATURE, INC
PI SMITHTOWN
PA 361 FOREST LANE, SMITHTOWN, NY 11787 USA
SN 1643-3750
J9 MED SCI MONITOR
JI Med. Sci. Monitor
PD MAY 10
PY 2013
VL 19
BP 353
EP 358
DI 10.12659/MSM.889133
PG 6
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA 159QE
UT WOS:000320059700001
PM 23660852
ER
PT J
AU Shi, F
Wang, L
Peng, ZW
Wee, CY
Shen, DG
AF Shi, Feng
Wang, Li
Peng, Ziwen
Wee, Chong-Yaw
Shen, Dinggang
TI Altered Modular Organization of Structural Cortical Networks in Children
with Autism
SO PLOS ONE
LA English
DT Article
ID GRAPH-THEORETICAL ANALYSIS; HIGH-FUNCTIONING AUTISM; HUMAN
CEREBRAL-CORTEX; SPECTRUM DISORDERS; BRAIN-DEVELOPMENT;
ASPERGER-SYNDROME; MRI; THICKNESS; VOLUME; MATTER
AB Autism is a complex developmental disability that characterized by deficits in social interaction, language skills, repetitive stereotyped behaviors and restricted interests. Although great heterogeneity exists, previous findings suggest that autism has atypical brain connectivity patterns and disrupted small-world network properties. However, the organizational alterations in the autistic brain network are still poorly understood. We explored possible organizational alterations of 49 autistic children and 51 typically developing controls, by investigating their brain network metrics that are constructed upon cortical thickness correlations. Three modules were identified in controls, including cortical regions associated with brain functions of executive strategic, spatial/auditory/visual, and self-reference/episodic memory. There are also three modules found in autistic children with similar patterns. Compared with controls, autism demonstrates significantly reduced gross network modularity, and a larger number of inter-module connections. However, the autistic brain network demonstrates increased intra-and inter-module connectivity in brain regions including middle frontal gyrus, inferior parietal gyrus, and cingulate, suggesting one underlying compensatory mechanism associated with brain functions of self-reference and episodic memory. Results also show that there is increased correlation strength between regions inside frontal lobe, as well as impaired correlation strength between frontotemporal and frontoparietal regions. This alteration of correlation strength may contribute to the organization alteration of network structures in autistic brains.
C1 [Shi, Feng; Wang, Li; Peng, Ziwen; Wee, Chong-Yaw; Shen, Dinggang] Univ N Carolina, Dept Radiol, Chapel Hill, NC 27515 USA.
[Shi, Feng; Wang, Li; Peng, Ziwen; Wee, Chong-Yaw; Shen, Dinggang] Univ N Carolina, BRIC, Chapel Hill, NC USA.
[Peng, Ziwen] S China Normal Univ, Dept Psychol, Guangzhou, Guangdong, Peoples R China.
[Shen, Dinggang] Korea Univ, Dept Brain & Cognit Engn, Seoul, South Korea.
RP Shen, DG (reprint author), Univ N Carolina, Dept Radiol, Chapel Hill, NC 27515 USA.
EM dgshen@med.unc.edu
FU National Institutes of Health (NIH) [EB006733, EB008374, EB009634,
AG041721]; National Natural Science Foundation of China [81201049];
University of North Carolina at Chapel Hill's Libraries
FX This work was supported in part by National Institutes of Health (NIH)
grants EB006733, EB008374, EB009634, AG041721, and National Natural
Science Foundation of China (81201049). The University of North Carolina
at Chapel Hill's Libraries provided support for open access publication.
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 6
Z9 7
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 MAY 10
PY 2013
VL 8
IS 5
AR e63131
DI 10.1371/journal.pone.0063131
PG 11
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 143FO
UT WOS:000318852400024
PM 23675456
ER
PT J
AU Zhang, JL
Dennis, KA
Darling, RD
Alzghoul, L
Paul, IA
Simpson, KL
Lin, RCS
AF Zhang, Junlin
Dennis, Katie A.
Darling, Ryan D.
Alzghoul, Loai
Paul, Ian A.
Simpson, Kimberly L.
Lin, Rick C. S.
TI Neonatal citalopram exposure decreases serotonergic fiber density in the
olfactory bulb of male but not female adult rats
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Article
DE serotonin transporter; olfactory bulb; selective serotonin reuptake
inhibitors; sexual dimorphism; autism spectrum disorders
ID HIGH-FUNCTIONING AUTISM; BRAIN-SEROTONIN; SPECTRUM DISORDERS;
ANTIDEPRESSANT EXPOSURE; NITRIC-OXIDE; CHILDREN; TRANSPORTER; ALTERS;
INPUTS; IDENTIFICATION
AB Manipulation of serotonin (5HT) during early development has been shown to induce long-lasting morphological changes within the raphe nuclear complex and serotonergic circuitry throughout the brain. Recent studies have demonstrated altered raphe-derived 5HT transporter (SERT) immunoreactive axonal expression in several cortical target sites after brief perinatal exposure to selective 5HT reuptake inhibitors such as citalopram (CTM). Since the serotonergic raphe nuclear complex projects to the olfactory bulb (OB) and perinatal 5HT disruption has been shown to disrupt olfactory behaviors, the goal of this study was to further investigate such developmental effects in the OB of CTM exposed animals. Male and female rat pups were exposed to CTM from postnatal day 8-21. After animals reach adulthood (>90 days), OB tissue sections were processed immunohistochemically for SERT antiserum. Our data revealed that the density of the SERT immunoreactive fibers decreased similar to 40% in the OB of CTM exposed male rats, but not female rats. Our findings support a broad and long-lasting change throughout most of the 5HT system, including the OB, after early manipulation of 5HT. Because dysfunction of the early 5HT system has been implicated in the etiology of neurodevelopmental disorders such as autism spectrum disorders (ASDs), these new findings may offer insight into the abnormal olfactory perception often noted in patients with ASD.
C1 [Zhang, Junlin; Darling, Ryan D.; Simpson, Kimberly L.; Lin, Rick C. S.] Univ Mississippi, Med Ctr, Dept Neurobiol & Anat Sci, Jackson, MS 39216 USA.
[Dennis, Katie A.] Millsaps Coll, Jackson, MS 39210 USA.
[Alzghoul, Loai] Univ Mississippi, Med Ctr, Program Neurosci, Jackson, MS 39216 USA.
[Paul, Ian A.; Simpson, Kimberly L.; Lin, Rick C. S.] Univ Mississippi, Med Ctr, Dept Psychiat & Hlth Behav, Jackson, MS 39216 USA.
RP Lin, RCS (reprint author), Univ Mississippi, Med Ctr, Dept Neurobiol & Anat Sci, 2500 North State St, Jackson, MS 39216 USA.
EM rlin@umc.edu
FU National Institutes of Health [EUREKA MH084194]
FX This work was supported by the National Institutes of Health under grant
number: EUREKA MH084194.
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NR 47
TC 3
Z9 3
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 MAY 10
PY 2013
VL 7
AR 67
DI 10.3389/fncel.2013.00067
PG 8
WC Neurosciences
SC Neurosciences & Neurology
GA 143CK
UT WOS:000318843700001
PM 23675318
ER
PT J
AU Bauer, AZ
Kriebel, D
AF Bauer, Ann Z.
Kriebel, David
TI Prenatal and perinatal analgesic exposure and autism: an ecological link
SO ENVIRONMENTAL HEALTH
LA English
DT Article
DE Paracetamol; Acetaminophen; Autism spectrum disorder; Sulfation;
Glucuronidation; Pro-inflammatory cytokines
ID PERVASIVE DEVELOPMENTAL DISORDERS; MATERNAL INFLUENZA INFECTION;
SPECTRUM DISORDERS; INFANTILE-AUTISM; CHILDHOOD AUTISM; UNITED-STATES;
RISK-FACTORS; EPIDEMIOLOGIC FINDINGS; NEONATAL CIRCUMCISION; PARACETAMOL
EXPOSURE
AB Background: Autism and Autism Spectrum Disorder (ASD) are complex neurodevelopmental disorders. Susceptibility is believed to be the interaction of genetic heritability and environmental factors. The synchronous rises in autism/ASD prevalence and paracetamol (acetaminophen) use, as well as biologic plausibility have led to the hypothesis that paracetamol exposure may increase autism/ASD risk.
Methods: To explore the relationship of antenatal paracetamol exposure to ASD, population weighted average autism prevalence rates and paracetamol usage rates were compared. To explore the relationship of early neonatal paracetamol exposure to autism/ASD, population weighted average male autism prevalence rates for all available countries and U.S. states were compared to male circumcision rates - a procedure for which paracetamol has been widely prescribed since the mid-1990s. Prevalence studies were extracted from the U.S. Centers for Disease Control and Prevention Summary of Autism/ASD Prevalence Studies database. Maternal paracetamol usage and circumcision rates were identified by searches on Pub Med.
Results: Using all available country-level data (n = 8) for the period 1984 to 2005, prenatal use of paracetamol was correlated with autism/ASD prevalence (r = 0.80). For studies including boys born after 1995, there was a strong correlation between country-level (n = 9) autism/ASD prevalence in males and a country's circumcision rate (r = 0.98). A very similar pattern was seen among U.S. states and when comparing the 3 main racial/ethnic groups in the U.S. The country-level correlation between autism/ASD prevalence in males and paracetamol was considerably weaker before 1995 when the drug became widely used during circumcision.
Conclusions: This ecological analysis identified country-level correlations between indicators of prenatal and perinatal paracetamol exposure and autism/ASD. State level correlation was also identified for the indicator of perinatal paracetamol exposure and autism/ASD. Like all ecological analyses, these data cannot provide strong evidence of causality. However, biologic plausibility is provided by a growing body of experimental and clinical evidence linking paracetamol metabolism to pathways shown to be important in autism and related developmental abnormalities. Taken together, these ecological findings and mechanistic evidence suggest the need for formal study of the role of paracetamol in autism.
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RP Bauer, AZ (reprint author), Univ Massachusetts, Sch Hlth & Environm, Dept Work Environm, 1 Univ Ave, Lowell, MA 01854 USA.
EM Ann_Bauer@student.uml.edu
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NR 201
TC 7
Z9 7
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1476-069X
J9 ENVIRON HEALTH-GLOB
JI Environ. Health
PD MAY 9
PY 2013
VL 12
AR 41
DI 10.1186/1476-069X-12-41
PG 13
WC Environmental Sciences; Public, Environmental & Occupational Health
SC Environmental Sciences & Ecology; Public, Environmental & Occupational
Health
GA 157NS
UT WOS:000319905400001
PM 23656698
ER
PT J
AU Castelhano, ASS
Cassane, GDT
Scorza, FA
Cysneiros, RM
AF Santos Castelhano, Adelisandra Silva
Teada Cassane, Gustavo dos Santos
Scorza, Fulvio Alexandre
Cysneiros, Roberta Monterazzo
TI Altered anxiety-related and abnormal social behaviors in rats exposed to
early life seizures
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE neonatal status epilepticus; pilocarpine; social anxiety; general
anxiety; social behavior
ID LONG-TERM CONSEQUENCES; STATUS EPILEPTICUS; NEONATAL SEIZURES;
DEVELOPING BRAIN; AUTISM; IMPAIRMENT; DEFICITS; MEMORY; MICE;
NEUROBIOLOGY
AB Neonatal seizures are the most common manifestation of neurological dysfunction in the neonate. The prognosis of neonatal seizures is highly variable, and the controversy remains whether the severity, duration, or frequency of seizures may contribute to brain damage independently of its etiology. Animal data indicates that seizures during development are associated with a high probability of long-term adverse effects such as learning and memory impairment, behavioral changes and even epilepsy, which is strongly age dependent, as well as the severity, duration, and frequency of seizures. In preliminary studies, we demonstrated that adolescent male rats exposed to one-single neonatal status epilepticus (SE) episode showed social behavior impairment, and we proposed the model as relevant for studies of developmental disorders. Based on these facts, the goal of this study was to verify the existence of a persistent deficit and if the anxiety-related behavior could be associated with that impairment. To do so, male Wistar rats at 9 days postnatal were submitted to a single episode of SE by pilocarpine injection (380 mg/kg, i.p.) and control animals received saline (0.9%, 0.1 mL/10 g). It was possible to demonstrate that in adulthood, animals exposed to neonatal Se displayed low preference for social novelty, anxiety-related behavior, and increased stereotyped behavior in anxiogenic environment with no locomotor activity changes. On the balance, these data suggests that neonatal Se in rodents leads to altered anxiety-related and abnormal social behaviors.
C1 [Santos Castelhano, Adelisandra Silva; Teada Cassane, Gustavo dos Santos; Cysneiros, Roberta Monterazzo] Presbyterian Mackenzie Univ, Neurobiol Lab, Dev Disabil Grad Program, BR-01302907 Sao Paulo, Brazil.
[Scorza, Fulvio Alexandre] Univ Fed Sao Paulo, Escola Paulista Med, Dept Neurol & Neurosurg, Sao Paulo, Brazil.
RP Cysneiros, RM (reprint author), Presbyterian Mackenzie Univ, Neurobiol Lab, Dev Disabil Grad Program, Rua Consolacao 930,Predio 28, BR-01302907 Sao Paulo, Brazil.
EM roberta.cysneiros@mackenzie.br
RI Scorza, Fulvio/C-7048-2013; Cysneiros, Roberta/H-6224-2012
OI Scorza, Fulvio/0000-0002-0694-8674; Cysneiros,
Roberta/0000-0002-3191-9146
FU MACKPESQUISA; CInAPCe (Cooperacao Interinstitucional de Apoio a Pesquisa
sobre o Cerebro)-FAPESP; CNPq (Conselho Nacional de Desenvolvimento
Cientifico e Tecnologico); FAPESP/CNPq/MCT (Instituto Nacional de
Neurociencia Translacional)
FX This work was sponsored by grants from MACKPESQUISA, CInAPCe (Cooperacao
Interinstitucional de Apoio a Pesquisa sobre o Cerebro)-FAPESP; CNPq
(Conselho Nacional de Desenvolvimento Cientifico e Tecnologico); and
FAPESP/CNPq/MCT (Instituto Nacional de Neurociencia Translacional).
Adelisandra Silva Santos Castelhano and Gustavo dos Santos Teada Cassane
are fellows from Coordenacao de Aperfeicoamento de Pessoal de Nivel
Superior (CAPES) and CNPq, respectively.
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NR 52
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 MAY 9
PY 2013
VL 7
AR 36
DI 10.3389/fnbeh.2013.00036
PG 8
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 139NN
UT WOS:000318589700001
PM 23675329
ER
PT J
AU Foss-Feig, JH
Tadin, D
Schauder, KB
Cascio, CJ
AF Foss-Feig, Jennifer H.
Tadin, Duje
Schauder, Kimberly B.
Cascio, Carissa J.
TI A Substantial and Unexpected Enhancement of Motion Perception in Autism
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
ID DIAGNOSTIC OBSERVATION SCHEDULE; CENTER-SURROUND INTERACTIONS; CONTRAST
GAIN-CONTROL; VISUAL-MOTION; PERCEIVED POSITION; CHILDREN; SPECTRUM;
SEARCH; CORTEX; EXCITATION/INHIBITION
AB Atypical perceptual processing in autism spectrum disorder (ASD) is well documented. In addition, growing evidence supports the hypothesis that an excitatory/inhibitory neurochemical imbalance might underlie ASD. Here we investigated putative behavioral consequences of the excitatory/inhibitory imbalance in the context of visual motion perception. As stimulus size increases, typical observers exhibit marked impairments in perceiving motion of high-contrast stimuli. This result, termed "spatial suppression," is believed to reflect inhibitory motion-processing mechanisms. Motion processing is also affected by gain control, an inhibitory mechanism that underlies saturation of neural responses at high contrast. Motivated by these behavioral correlates of inhibitory function, we investigated motion perception in human children with ASD (n = 20) and typical development (n = 26). At high contrast, both groups exhibited similar impairments in motion perception with increasing stimulus size, revealing no apparent differences in spatial suppression. However, there was a substantial enhancement of motion perception in ASD: children with ASD exhibited a consistent twofold improvement in perceiving motion. Hypothesizing that this enhancement might indicate abnormal weakening of response gain control, we repeated our measurements at low contrast, where the effects of gain control should be negligible. At low contrast, we indeed found no group differences in motion discrimination thresholds. These low-contrast results, however, revealed weaker spatial suppression in ASD, suggesting the possibility that gain control abnormalities in ASD might have masked spatial suppression differences at high contrast. Overall, we report a pattern of motion perception abnormalities in ASD that includes substantial enhancements at high contrast and is consistent with an underlying excitatory/inhibitory imbalance.
C1 [Foss-Feig, Jennifer H.] Vanderbilt Univ, Dept Psychol & Human Dev, Nashville, TN 37203 USA.
[Tadin, Duje; Cascio, Carissa J.] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Nashville, TN 37203 USA.
[Schauder, Kimberly B.] Univ Rochester, Ctr Visual Sci, Dept Brain & Cognit Sci, Rochester, NY 14627 USA.
[Schauder, Kimberly B.] Univ Rochester, Dept Ophthalmol, Rochester, NY 14627 USA.
[Cascio, Carissa J.] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37212 USA.
RP Foss-Feig, JH (reprint author), 1601 23rd Ave South,PMB 552, Nashville, TN 37212 USA.
EM jennifer.h.foss-feig@vanderbilt.edu
FU National Eye Institute-National Institutes of Health [P30 EY001319, P30
EY08126, R01 EY019295, K01-MH090232]; National Center for Research
Resources-National Institutes of Health [1 UL1 RR024975]; Autism Speaks
Dennis Weatherstone Predoctoral Fellowship
FX This work was supported by the National Eye Institute-National
Institutes of Health (Core Grants P30 EY001319 and P30 EY08126, Grant
R01 EY019295 to D.T., and Grant K01-MH090232 to C.J.C.) and the National
Center for Research Resources-National Institutes of Health (Grant 1 UL1
RR024975). J.H.F.-F. was supported by an Autism Speaks Dennis
Weatherstone Predoctoral Fellowship.
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NR 56
TC 19
Z9 19
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 MAY 8
PY 2013
VL 33
IS 19
BP 8243
EP 8249
DI 10.1523/JNEUROSCI.1608-12.2013
PG 7
WC Neurosciences
SC Neurosciences & Neurology
GA 142CZ
UT WOS:000318775200013
PM 23658163
ER
PT J
AU Krueger, DD
Brose, N
AF Krueger, Dilja D.
Brose, Nils
TI Evidence for a Common Endocannabinoid-Related Pathomechanism in Autism
Spectrum Disorders
SO NEURON
LA English
DT Editorial Material
ID SYNAPTIC PATHOPHYSIOLOGY; NEUROLIGINS; MUTATIONS; MODEL; MICE
AB In this issue of Neuron, Foldy et al. (2013) report that endocannabinoid-mediated signaling at inhibitory synapses is dysregulated in mouse models of autism-associated Neuroligin-3 mutations. These findings carry implications regarding the pathophysiology of autism spectrum disorders and the development of treatment strategies.
C1 [Krueger, Dilja D.; Brose, Nils] Max Planck Inst Expt Med, Dept Mol Neurobiol, D-37075 Gottingen, Germany.
RP Krueger, DD (reprint author), Max Planck Inst Expt Med, Dept Mol Neurobiol, Hermann Rein Str 3, D-37075 Gottingen, Germany.
EM krueger@em.mpg.de; brose@em.mpg.de
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NR 15
TC 3
Z9 3
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0896-6273
J9 NEURON
JI Neuron
PD MAY 8
PY 2013
VL 78
IS 3
BP 408
EP 410
DI 10.1016/j.neuron.2013.04.030
PG 3
WC Neurosciences
SC Neurosciences & Neurology
GA 144SW
UT WOS:000318961700002
PM 23664608
ER
PT J
AU Foldy, C
Malenka, RC
Sudhof, TC
AF Foeldy, Csaba
Malenka, Robert C.
Suedhof, Thomas C.
TI Autism-Associated Neuroligin-3 Mutations Commonly Disrupt Tonic
Endocannabinoid Signaling
SO NEURON
LA English
DT Article
ID INHIBITORY SYNAPTIC-TRANSMISSION; HIPPOCAMPAL GABAERGIC SYNAPSES;
PERISOMATIC INHIBITION; RECEPTOR ACTIVATION; FAST-SPIKING; RELEASE;
CANNABINOIDS; MODULATION; NEUREXINS; GABA
AB Neuroligins are postsynaptic cell-adhesion molecules that interact with presynaptic neurexins. Rare mutations in neuroligins and neurexins predispose to autism, including a neuroligin-3 amino acid substitution (R451C) and a neuroligin-3 deletion. Previous analyses showed that neuroligin-3 R451C-knockin mice exhibit robust synaptic phenotypes but failed to uncover major changes in neuroligin-3 knockout mice, questioning the notion that a common synaptic mechanism mediates autism pathogenesis in patients with these mutations. Here, we used paired recordings in mice carrying these mutations to measure synaptic transmission at GABAergic synapses formed by hippocampal parvalbumin- and cholecystokinin-expressing basket cells onto pyramidal neurons. We demonstrate that in addition to unique gain-of-function effects produced by the neuroligin-3 R451C-knockin but not the neuroligin-3 knockout mutation, both mutations dramatically impaired tonic but not phasic endocannabinoid signaling. Our data thus suggest that neuroligin-3 is specifically required for tonic endocannabinoid signaling, raising the possibility that alterations in endocannabinoid signaling may contribute to autism pathophysiology.
C1 [Foeldy, Csaba; Suedhof, Thomas C.] Stanford Univ, Sch Med, Dept Mol & Cellular Physiol, Stanford, CA 94305 USA.
[Foeldy, Csaba; Malenka, Robert C.] Stanford Univ, Sch Med, Nancy Pritzker Lab, Stanford, CA 94305 USA.
[Malenka, Robert C.; Suedhof, Thomas C.] Stanford Univ, Sch Med, Dept Psychiat, Stanford, CA 94305 USA.
[Suedhof, Thomas C.] Stanford Univ, Sch Med, Howard Hughes Med Inst, Stanford, CA 94305 USA.
RP Foldy, C (reprint author), Stanford Univ, Sch Med, Dept Mol & Cellular Physiol, Stanford, CA 94305 USA.
EM foldy@stanford.edu; tcs1@stanford.edu
FU Simons Foundation [177850]; NIMH [P50 MH086403]; NIDA [K99DA034029];
NINDS [NS069375]
FX We would like to thank Nathan Huang, Scarlett Fang, Ayeh Darvishzadeh,
and Shaon Ghosh for technical assistance, and Dr. Jason Aoto for advice.
This study was supported by grants from the Simons Foundation (177850 to
T.C.S.), the NIMH (P50 MH086403 to R.C.M. and T.C.S.), the NIDA
(K99DA034029 to C.F.), and the NINDS (NS069375 to the Stanford
Neuroscience Microscopy Service).
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NR 51
TC 36
Z9 36
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0896-6273
J9 NEURON
JI Neuron
PD MAY 8
PY 2013
VL 78
IS 3
BP 498
EP 509
DI 10.1016/j.neuron.2013.02.036
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA 144SW
UT WOS:000318961700011
PM 23583622
ER
PT J
AU Bateup, HS
Johnson, CA
Denefrio, CL
Saulnier, JL
Kornacker, K
Sabatini, BL
AF Bateup, Helen S.
Johnson, Caroline A.
Denefrio, Cassandra L.
Saulnier, Jessica L.
Kornacker, Karl
Sabatini, Bernardo L.
TI Excitatory/Inhibitory Synaptic Imbalance Leads to Hippocampal
Hyperexcitability in Mouse Models of Tuberous Sclerosis
SO NEURON
LA English
DT Article
ID NEURODEVELOPMENTAL DISORDERS; AMPA RECEPTORS; AUTISM; EPILEPSY; NEURONS;
COMPLEX; TSC1; INHIBITION; TRANSLATION; SUPPRESSION
AB Neural circuits are regulated by activity-dependent feedback systems that tightly control network excitability and which are thought to be crucial for proper brain development. Defects in the ability to establish and maintain network homeostasis may be central to the pathogenesis of neurodevelopmental disorders. Here, we examine the function of the tuberous sclerosis complex (TSC)-mTOR signaling pathway, a common target of mutations associated with epilepsy and autism spectrum disorder, in regulating activity-dependent processes in the mouse hippocampus. We find that the TSC-mTOR pathway is a central component of a positive feedback loop that promotes network activity by repressing inhibitory synapses onto excitatory neurons. In Tsc1 KO neurons, weakened inhibition caused by deregulated mTOR alters the balance of excitatory and inhibitory synaptic transmission, leading to hippocampal hyperexcitability. These findings identify the TSC-mTOR pathway as a regulator of neural network activity and have implications for the neurological dysfunction in disorders exhibiting deregulated mTOR signaling.
C1 [Bateup, Helen S.; Johnson, Caroline A.; Denefrio, Cassandra L.; Saulnier, Jessica L.; Sabatini, Bernardo L.] Harvard Univ, Sch Med, Howard Hughes Med Inst, Dept Neurobiol, Boston, MA 02115 USA.
[Kornacker, Karl] Ohio State Univ, Div Sensory Biophys, Columbus, OH 43210 USA.
RP Sabatini, BL (reprint author), Harvard Univ, Sch Med, Howard Hughes Med Inst, Dept Neurobiol, Boston, MA 02115 USA.
EM bsabatini@hms.harvard.edu
FU NINDS grant [NS052707]; Nancy Lurie Marks postdoctoral fellowship
FX We thank members of the Sabatini lab for helpful comments and critically
reading our manuscript. This work was supported by an NINDS grant
(NS052707) (to B.L.S.) and a Nancy Lurie Marks postdoctoral fellowship
(to H.S.B.).
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NR 47
TC 32
Z9 35
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0896-6273
J9 NEURON
JI Neuron
PD MAY 8
PY 2013
VL 78
IS 3
BP 510
EP 522
DI 10.1016/j.neuron.2013.03.017
PG 13
WC Neurosciences
SC Neurosciences & Neurology
GA 144SW
UT WOS:000318961700012
PM 23664616
ER
PT J
AU Ziats, MN
Rennert, OM
AF Ziats, Mark N.
Rennert, Owen M.
TI Sex-biased gene expression in the developing brain: implications for
autism spectrum disorders
SO MOLECULAR AUTISM
LA English
DT Letter
DE Autistic disorder; Gene expression; Sex differences
ID DE-NOVO MUTATIONS; TRANSCRIPTOME
AB Autism spectrum disorders affect significantly more males than females. Understanding sex differences in normal human brain development may provide insight into the mechanism(s) underlying this disparity; however, studies of sex differences in brain development at the genomic level are lacking. Here, we report a re-analysis of sex-specific gene expression from a recent large transcriptomic study of normal human brain development, to determine whether sex-biased genes relate to specific mechanistic processes. We discovered that male-biased genes are enriched for the processes of extracellular matrix formation/glycoproteins, immune response, chromatin, and cell cytoskeleton. We highlight that these pathways have been repeatedly implicated in autism and demonstrate that autism candidate genes are also enriched for these pathways. We propose that the overlap of these male-specific brain transcriptional modules with the same pathways in autism spectrum disorders may partially explain the increased incidence of autism in males.
C1 [Ziats, Mark N.; Rennert, Owen M.] NICHHD, NIH, Bethesda, MD 20814 USA.
[Ziats, Mark N.] Robinson Coll, NIH Univ Cambridge Biomed Scholars Program, Cambridge CB3 9AN, England.
[Ziats, Mark N.] Baylor Coll Med MSTP, Houston, TX 77030 USA.
RP Ziats, MN (reprint author), NICHHD, NIH, 49 Convent Dr,Bldg 49,Room 2C08, Bethesda, MD 20814 USA.
EM ziatsm@mail.nih.gov
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NR 14
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 MAY 7
PY 2013
VL 4
AR 10
DI 10.1186/2040-2392-4-10
PG 3
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA 254VA
UT WOS:000327195300001
PM 23651621
ER
PT J
AU Lloyd-Fox, S
Blasi, A
Elwell, CE
Charman, T
Murphy, D
Johnson, MH
AF Lloyd-Fox, S.
Blasi, A.
Elwell, C. E.
Charman, T.
Murphy, D.
Johnson, M. H.
TI Reduced neural sensitivity to social stimuli in infants at risk for
autism
SO PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
LA English
DT Article
DE functional near infrared spectroscopy; social; infancy; development;
autism spectrum disorder; voice processing
ID NEAR-INFRARED SPECTROSCOPY; FUNCTIONAL BRAIN-DEVELOPMENT; AGE 2 YEARS;
EYE GAZE; ATYPICAL DEVELOPMENT; SPECTRUM DISORDERS; TEMPORAL CORTEX;
VOICE; FACE; PERCEPTION
AB In the hope of discovering early markers of autism, attention has recently turned to the study of infants at risk owing to being the younger siblings of children with autism. Because the condition is highly heritable, later-born siblings of diagnosed children are at substantially higher risk for developing autism or the broader autism phenotype than the general population. Currently, there are no strong predictors of autism in early infancy and diagnosis is not reliable until around 3 years of age. Because indicators of brain functioning may be sensitive predictors, and atypical social interactions are characteristic of the syndrome, we examined whether temporal lobe specialization for processing visual and auditory social stimuli during infancy differs in infants at risk. In a functional near-infrared spectroscopy study, infants aged 4-6 months at risk for autism showed less selective neural responses to social stimuli (auditory and visual) than low-risk controls. These group differences could not be attributed to overall levels of attention, developmental stage or chronological age. Our results provide the first demonstration of specific differences in localizable brain function within the first 6 months of life in a group of infants at risk for autism. Further, these differences closely resemble known patterns of neural atypicality in children and adults with autism. Future work will determine whether these differences in infant neural responses to social stimuli predict either later autism or the broader autism phenotype frequently seen in unaffected family members.
C1 [Lloyd-Fox, S.; Blasi, A.; Johnson, M. H.] Univ London, Ctr Brain & Cognit Dev, London WC1E 7HX, England.
[Elwell, C. E.] UCL, Dept Med Phys & Bioengn, London, England.
[Charman, T.] Kings Coll London, Inst Psychiat, Dept Psychol, London WC2R 2LS, England.
[Murphy, D.] Kings Coll London, Inst Psychiat, Dept Forens & Neurodev Sci, London WC2R 2LS, England.
RP Lloyd-Fox, S (reprint author), Univ London, Ctr Brain & Cognit Dev, Malet St, London WC1E 7HX, England.
EM s.fox@bbk.ac.uk
RI Charman, Tony/A-2085-2014
OI Charman, Tony/0000-0003-1993-6549
FU BASIS; Simon's Foundation [SFARI201287]; BASIS by Autistica
FX Recruitment, ethical approval (UK National Health Service National
Research Ethics Service London REC 08/H0718/76 and 06/MRE02/73) and
informed consent, as well as background data on participating families
with high-risk infants, were made available for the current study
through BASIS. Data and research materials supporting the results in the
article are stored in the BASIS Network Data Repository. BASIS provides
support for scientific projects and access to published datasets once
these projects become affiliated with the network (for further details
see http://www.basisnetwork.org).We are very grateful for the enormous
contributions the BASIS families have made towards this study. The UK
Medical Research Council (G0701484), a grant from The Simon's Foundation
(no. SFARI201287 to M.H.J.) and the BASIS funding consortium led by
Autistica (www.basisnetwork.org) supports the research of M.H.J.
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NR 61
TC 13
Z9 13
PU ROYAL SOC
PI LONDON
PA 6-9 CARLTON HOUSE TERRACE, LONDON SW1Y 5AG, ENGLAND
SN 0962-8452
EI 1471-2954
J9 P ROY SOC B-BIOL SCI
JI Proc. R. Soc. B-Biol. Sci.
PD MAY 7
PY 2013
VL 280
IS 1758
AR 20123026
DI 10.1098/rspb.2012.3026
PG 9
WC Biology; Ecology; Evolutionary Biology
SC Life Sciences & Biomedicine - Other Topics; Environmental Sciences &
Ecology; Evolutionary Biology
GA 110AJ
UT WOS:000316413700005
PM 23486434
ER
PT J
AU Frenkel-Toledo, S
Bentin, S
Perry, A
Liebermann, DG
Soroker, N
AF Frenkel-Toledo, Silvi
Bentin, Shlomo
Perry, Anat
Liebermann, Dario G.
Soroker, Nachum
TI Dynamics of the EEG power in the frequency and spatial domains during
observation and execution of manual movements
SO BRAIN RESEARCH
LA English
DT Article
DE EEG; Mu-rhythm; Alpha-rhythm; Mirror-neuron; Perception-action cycle
ID MIRROR-NEURON SYSTEM; EVENT-RELATED DESYNCHRONIZATION; AUTISM SPECTRUM
DISORDERS; HIGH-RESOLUTION EEG; PRIMARY MOTOR CORTEX; MU-RHYTHM;
FUNCTIONAL-SIGNIFICANCE; CORTICAL ACTIVATION; VOLUNTARY MOVEMENT; THETA
OSCILLATIONS
AB Mu suppression is the attenuation of EEG power in the alpha frequency range (8-12 Hz) while executing or observing a motor action. Whereas typically observed at central scalp sites, there are diverging reports about the extent of the attenuation over the cortical mantle, its exact frequency range and the specificity of this phenomenon. We investigated the modulation of EEG oscillations in frequency-bands between 4 to 12 Hz at frontal, central, parietal and occipital sites during the execution of manual movements and during observation of similar actions from allocentric (i.e., facing the actor) and egocentric (i.e., seeing the actor from behind) viewpoints. Suppression was determined relative to observation of a non-biological movement. Action observation elicited greater suppression in the lower (8-10 Hz) compared to the higher mu range (10-12 Hz), and greater suppression in the entire range (4-12 Hz) at frontal and central sites compared to parietal and occipital sites. In addition, suppression tended to be greater during observation of a motor action from allocentric compared to egocentric viewpoints. During execution of movement, suppression of the EEG occurred primarily in the higher alpha range and was absent at occipital sites. In the theta range (4-8 Hz), the EEG amplitude was suppressed during action observation and execution. The results suggest a functional distinction between modulation of mu and alpha rhythms, and between the higher and lower ranges of the mu rhythms. The activity of the presumed human mirror-neuron system seems primarily evident in the lower mu range and in the theta range. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Frenkel-Toledo, Silvi; Soroker, Nachum] Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel.
[Frenkel-Toledo, Silvi; Soroker, Nachum] Loewenstein Hosp & Rehabil Ctr, Dept Neurol Rehabil, Raanana, Israel.
[Bentin, Shlomo; Perry, Anat] Hebrew Univ Jerusalem, Dept Psychol, IL-91905 Jerusalem, Israel.
[Bentin, Shlomo] Hebrew Univ Jerusalem, Interdisciplinary Ctr Neural Computat, Jerusalem, Israel.
[Liebermann, Dario G.] Tel Aviv Univ, Sackler Fac Med, Phys Therapy Dept, Tel Aviv, Israel.
[Frenkel-Toledo, Silvi] Tel Aviv Univ, Fac Med, PT Dept, Stanley Steyer Sch Hlth Profess, Tel Aviv, Israel.
RP Frenkel-Toledo, S (reprint author), Loewenstein Hosp & Rehabil Ctr, 278 Ahuza, IL-43100 Raanana, Israel.
EM silvi197@bezeqint.net
FU Legacy Foundation through the Loewenstein Rehabilitation Hospital;
Steyer Family Endowment through the Stanley Steyer School of Health
Professions of the Sadder Faculty of Medicine - Tel Aviv University;
Israeli Ministry of Health [3-00000-7772]
FX This research project was carried out by the first author in partial
fulfillment of the requirements for the PhD degree at the Sackler
Faculty of Medicine - Tel Aviv University, under the supervision of
Shlomo Bentin, Dario G. Liebermann and Nachum Soroker. We dedicate the
paper in memory of Professor Shlomo Bentin, who recently passed away in
a tragic accident. We wish to thank the participants for their
cooperation in the experiment. This research was partially funded by the
Legacy Foundation granted through the Loewenstein Rehabilitation
Hospital, the Steyer Family Endowment through the Stanley Steyer School
of Health Professions of the Sadder Faculty of Medicine - Tel Aviv
University and the Israeli Ministry of Health no. 3-00000-7772.
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NR 96
TC 7
Z9 7
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
J9 BRAIN RES
JI Brain Res.
PD MAY 6
PY 2013
VL 1509
BP 43
EP 57
DI 10.1016/j.brainres.2013.03.004
PG 15
WC Neurosciences
SC Neurosciences & Neurology
GA 146LU
UT WOS:000319093400005
PM 23500633
ER
PT J
AU Esposito, G
Yoshida, S
Ohnishi, R
Tsuneoka, Y
Rostagno, MD
Yokota, S
Okabe, S
Kamiya, K
Hoshino, M
Shimizu, M
Venuti, P
Kikusui, T
Kato, T
Kuroda, KO
AF Esposito, Gianluca
Yoshida, Sachine
Ohnishi, Ryuko
Tsuneoka, Yousuke
Rostagno, Maria del Carmen
Yokota, Susumu
Okabe, Shota
Kamiya, Kazusaku
Hoshino, Mikio
Shimizu, Masaki
Venuti, Paola
Kikusui, Takefumi
Kato, Tadafumi
Kuroda, Kumi O.
TI Infant Calming Responses during Maternal Carrying in Humans and Mice
SO CURRENT BIOLOGY
LA English
DT Article
ID TRANSPORT; RAT; ATTACHMENT; CONTACT; ROCKING; AUTISM; ABUSE; GENE
AB Background: Mother-infant bonding is the earliest and most critical social relationship of mammalian infants. To promote this bond, infants have innate behaviors to seek maternal proximity and protest upon separation via communication with the mother vocally and through body movement. However, the physiological mechanisms regulating these infant behaviors remain largely undefined.
Results: Here we show a novel set of infant cooperative responses during maternal carrying. Infants under 6 months of age carried by a walking mother immediately stopped voluntary movement and crying and exhibited a rapid heart rate decrease, compared with holding by a sitting mother. Furthermore, we identified strikingly similar responses in mouse pups as defined by immobility and diminished ultrasonic vocalizations and heart rate. Using pharmacologic and genetic interventions in mouse pups, we identified the upstream and downstream neural systems regulating the calming response. Somatosensory and proprioceptive input signaling are required for induction, and parasympathetic and cerebellar functions mediate cardiac and motor output, respectively. The loss of the calming response hindered maternal rescue of the pups, suggesting a functional significance for the identified calming response.
Conclusions: Our study has demonstrated for the first time that the infant calming response to maternal carrying is a coordinated set of central, motor, and cardiac regulations and is a conserved component of mammalian mother-infant interactions. Our findings provide evidence for and have the potential to impact current parenting theory and practice, since unsoothable crying is the major risk factor for child abuse.
C1 [Esposito, Gianluca; Yoshida, Sachine; Ohnishi, Ryuko; Tsuneoka, Yousuke; Kuroda, Kumi O.] RIKEN Brain Sci Inst, Unit Affiliat Social Behav, Wako, Saitama 3510198, Japan.
[Kato, Tadafumi] RIKEN Brain Sci Inst, Lab Mol Dynam Mental Disorders, Wako, Saitama 3510198, Japan.
[Rostagno, Maria del Carmen; Venuti, Paola] Univ Trent, Dept Psychol & Cognit Sci, I-38068 Rovereto, Trento, Italy.
[Yokota, Susumu] Saitama Childrens Med Ctr, Dept Clin Lab, Saitama 3398551, Japan.
[Shimizu, Masaki] Saitama Childrens Med Ctr, Div Neonatol, Saitama 3398551, Japan.
[Okabe, Shota; Kikusui, Takefumi] Azabu Univ, Sch Vet Med, Sagamihara, Kanagawa 2525201, Japan.
[Kamiya, Kazusaku] Juntentdo Univ, Sch Med, Dept Otorhinolaryngol, Bunkyo Ku, Tokyo 1138421, Japan.
[Hoshino, Mikio] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Biochem & Cellular Biol, Kodaira, Tokyo 1878551, Japan.
RP Kuroda, KO (reprint author), RIKEN Brain Sci Inst, Unit Affiliat Social Behav, Wako, Saitama 3510198, Japan.
EM oyako@brain.riken.jp
RI Esposito, Gianluca/B-1374-2012; Esposito, Gianluca/K-9353-2013; Kato,
Tadafumi/J-3583-2014
OI Esposito, Gianluca/0000-0002-9442-0254; Esposito,
Gianluca/0000-0002-9442-0254; Kato, Tadafumi/0000-0001-7856-3952
FU RIKEN; JSPS
FX We thank M. Ogawa for the reeler strain; S. Sato, Y. Tanaka, H. Gateau,
A. Terashima, and C. Yokoyama for insightful discussion and comments; P.
Rigo and F. Riccardi for the drawing of Figure 1A; and T. Fillman, A.
Ozaki, our lab members, and RIKEN staff for assistance. This work was
supported by RIKEN and JSPS grants-in-aid (K.O.K, 2007-2008; S.Y.,
2010-2012; G.E., 2010 and 2012-2013).
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NR 29
TC 9
Z9 10
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0960-9822
J9 CURR BIOL
JI Curr. Biol.
PD MAY 6
PY 2013
VL 23
IS 9
BP 739
EP 745
DI 10.1016/j.cub.2013.03.041
PG 7
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA 141UB
UT WOS:000318750900023
PM 23602481
ER
PT J
AU Maroof, AM
Keros, S
Tyson, JA
Ying, SW
Ganat, YM
Merkle, FT
Liu, B
Goulburn, A
Stanley, EG
Elefanty, AG
Widmer, HR
Eggan, K
Goldstein, PA
Anderson, SA
Studer, L
AF Maroof, Asif M.
Keros, Sotirios
Tyson, Jennifer A.
Ying, Shui-Wang
Ganat, Yosif M.
Merkle, Florian T.
Liu, Becky
Goulburn, Adam
Stanley, Edouard G.
Elefanty, Andrew G.
Widmer, Hans Ruedi
Eggan, Kevin
Goldstein, Peter A.
Anderson, Stewart A.
Studer, Lorenz
TI Directed Differentiation and Functional Maturation of Cortical
Interneurons from Human Embryonic Stem Cells
SO CELL STEM CELL
LA English
DT Article
ID MEDIAL GANGLIONIC EMINENCE; HUMAN CEREBRAL-CORTEX; NEURAL DEVELOPMENT;
BASAL FOREBRAIN; HUMAN NEOCORTEX; FLOOR PLATE; MOUSE-BRAIN; HUMAN ES;
NEURONS; EXPRESSION
AB Human pluripotent stem cells are a powerful tool for modeling brain development and disease. The human cortex is composed of two major neuronal populations: projection neurons and local interneurons. Cortical interneurons comprise a diverse class of cell types expressing the neurotransmitter GABA. Dysfunction of cortical interneurons has been implicated in neuropsychiatric diseases, including schizophrenia, autism, and epilepsy. Here, we demonstrate the highly efficient derivation of human cortical interneurons in an NKX2.1::GFP human embryonic stem cell reporter line. Manipulating the timing of SHH activation yields three distinct GFP+ populations with specific transcriptional profiles, neurotransmitter phenotypes, and migratory behaviors. Further differentiation in a murine cortical environment yields parvalbumin- and somatostatin-expressing neurons that exhibit synaptic inputs and electrophysiological properties of cortical interneurons. Our study defines the signals sufficient for modeling human ventral forebrain development in vitro and lays the foundation for studying cortical interneuron involvement in human disease pathology.
C1 [Maroof, Asif M.; Ganat, Yosif M.; Liu, Becky; Studer, Lorenz] Sloan Kettering Inst Canc Res, Ctr Stem Cell Biol, New York, NY 10065 USA.
[Maroof, Asif M.; Ganat, Yosif M.; Liu, Becky; Studer, Lorenz] Sloan Kettering Inst Canc Res, Dev Biol Program, New York, NY 10065 USA.
[Tyson, Jennifer A.; Goulburn, Adam; Anderson, Stewart A.] Weill Cornell Med Coll, Dept Psychiat, New York, NY 10021 USA.
[Keros, Sotirios; Ying, Shui-Wang; Goldstein, Peter A.] Weill Cornell Med Coll, Dept Anesthesiol, New York, NY 10021 USA.
[Keros, Sotirios] Weill Cornell Med Coll, Div Pediat Neurol, Dept Pediat, New York, NY 10021 USA.
[Stanley, Edouard G.; Elefanty, Andrew G.] Monash Univ, Monash Immunol & Stem Cell Labs, Clayton, Vic 3800, Australia.
[Widmer, Hans Ruedi] Univ Bern, Dept Neurosurg, Inselspital, CH-3010 Bern, Switzerland.
[Maroof, Asif M.; Merkle, Florian T.; Eggan, Kevin] Harvard Univ, Dept Stem Cell & Regenerat Biol, Cambridge, MA 02138 USA.
[Anderson, Stewart A.] Childrens Hosp Philadelphia, Dept Psychiat, Philadelphia, PA 19104 USA.
[Anderson, Stewart A.] Univ Penn, Sch Med, Philadelphia, PA 19104 USA.
[Stanley, Edouard G.; Elefanty, Andrew G.] Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia.
RP Anderson, SA (reprint author), Sloan Kettering Inst Canc Res, Ctr Stem Cell Biol, New York, NY 10065 USA.
EM andersons3@email.chop.edu; studerl@mskcc.org
RI Elefanty, Andrew/A-6066-2008; Stanley, Ed/A-2985-2013
OI Stanley, Ed/0000-0002-6389-3665
FU NIMH [2RO1 MH066912, 1RC1MH089690]; Swiss National Science Foundation
[31003A_135565]
FX We would like to thank J. Hendrikx (Sloan-Kettering Institute [SKI] Flow
Cytometry Core), A. Viale (SKI Genomics Core laboratory), M. Leversha
(Molecular Cytogenetics Core), and E. Tu and M. Tomishima (SKI Stem Cell
Facility) for excellent technical support. We further thank the
Department of Gynecology (directors: M. Mueller and D. Surbek),
University of Bern, Switzerland for providing us with the human fetal
tissue. Studies using the NKX2.1::GFP hESC line were supported by grants
from NYSTEM (S.A.), the European Commission project NeuroStemcell
(L.S.), and the C.V. Starr Foundation (S.A. and L.S.). Experiments using
hESC line WA-09 or iPSC lines were supported by NIMH grants 2RO1
MH066912 (S.A.) and 1RC1MH089690 (S.A. and L.S.) and by the Swiss
National Science Foundation grant no. 31003A_135565 (H.R.W.).
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NR 54
TC 68
Z9 68
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 1934-5909
EI 1875-9777
J9 CELL STEM CELL
JI Cell Stem Cell
PD MAY 2
PY 2013
VL 12
IS 5
BP 559
EP 572
DI 10.1016/j.stem.2013.04.008
PG 14
WC Cell & Tissue Engineering; Cell Biology
SC Cell Biology
GA 287VE
UT WOS:000329569600012
PM 23642365
ER
PT J
AU Sasson, NJ
Lam, KSL
Parlier, M
Daniels, JL
Piven, J
AF Sasson, Noah J.
Lam, Kristen S. L.
Parlier, Morgan
Daniels, Julie L.
Piven, Joseph
TI Autism and the broad autism phenotype: familial patterns and
intergenerational transmission
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Broad autism phenotype; Endophenotype; Assessment; Genetics;
Personality
ID MULTIPLE-INCIDENCE; SPECTRUM DISORDERS; TWIN PAIRS; DE-NOVO; PARENTS;
INDIVIDUALS; QUESTIONNAIRE; PERSONALITY; POPULATION; GENETICS
AB Background: Features of the Broad Autism Phenotype (BAP) are disproportionately prevalent in parents of a child with autism, highlighting familial patterns indicative of heritability. It is unclear, however, whether the presence of BAP features in both parents confers an increased liability for autism. The current study explores whether the presence of BAP features in two biological parents occurs more frequently in parents of a child with autism relative to comparison parents, whether parental pairs of a child with autism more commonly consist of one or two parents with BAP features, and whether these features are associated with severity of autism behaviors in probands.
Method: Seven hundred eleven parents of a child with an autism spectrum disorder and 981 comparison parents completed the Broad Autism Phenotype Questionnaire. Parents of a child with autism also completed the Social Communication Questionnaire.
Results: Although parental pairs of a child with autism were more likely than comparison parental pairs to have both parents characterized by the presence of the BAP, they more commonly consisted of a single parent with BAP features. The presence of the BAP in parents was associated with the severity of autism behaviors in probands, with the lowest severity occurring for children of parental pairs in which neither parent exhibited a BAP feature. Severity did not differ between children of two affected parents and those of just one.
Conclusions: Collectively, these findings indicate that parental pairs of children with autism frequently consist of a single parent with BAP characteristics and suggest that future studies searching for implicated genes may benefit from a more narrow focus that identifies the transmitting parent. The evidence of intergenerational transmission reported here also provides further confirmation of the high heritability of autism that is unaccounted for by the contribution of de novo mutations currently emphasized in the field of autism genetics.
C1 [Sasson, Noah J.] Univ Texas Dallas, Sch Behav & Brain Sci, Richardson, TX 75080 USA.
[Lam, Kristen S. L.; Parlier, Morgan; Daniels, Julie L.; Piven, Joseph] Univ N Carolina, Sch Med, Carolina Inst Dev Disabil, Chapel Hill, NC USA.
[Daniels, Julie L.] Univ N Carolina, Dept Epidemiol, Chapel Hill, NC USA.
RP Sasson, NJ (reprint author), Univ Texas Dallas, Sch Behav & Brain Sci, Richardson, TX 75080 USA.
EM nsasson@utdallas.edu; joe_piven@med.unc.edu
FU Research Registry Core of the Eunice Kennedy Shriver Intellectual and
Developmental Disabilities Research Center (IDDRC) at UNC-Chapel Hill
[HD003110]; Centers for Disease Control and Prevention [U10 DD000184-06,
U50/CCU422345]
FX We greatly appreciate the help of Renee Clark and the Research Registry
Core of the Eunice Kennedy Shriver Intellectual and Developmental
Disabilities Research Center (IDDRC) at UNC-Chapel Hill (grant no.
HD003110) and conversations with Veronica Vieland, PhD, about ideas in
this paper. This work was further supported by the Centers for Disease
Control and Prevention (grant nos. U10 DD000184-06, U50/CCU422345). The
findings and conclusions in this report are those of the authors and do
not necessarily represent the official position of the Centers for
Disease Control and Prevention. Finally, we would like to thank all the
parents who participated in this research.
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NR 29
TC 7
Z9 7
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD MAY 2
PY 2013
VL 5
AR 11
DI 10.1186/1866-1955-5-11
PG 7
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA 143XE
UT WOS:000318901700001
PM 23639131
ER
PT J
AU Wolff, JJ
Hazlett, HC
Lightbody, AA
Reiss, AL
Piven, J
AF Wolff, Jason J.
Hazlett, Heather C.
Lightbody, Amy A.
Reiss, Allan L.
Piven, Joseph
TI Repetitive and self-injurious behaviors: associations with caudate
volume in autism and fragile X syndrome
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Caudate; Fragile X syndrome; Repetitive behavior; Self-injurious
behavior
ID NEURODEVELOPMENTAL DISORDERS; MENTAL-RETARDATION; STRIATAL VOLUME;
YOUNG-CHILDREN; RISK-FACTORS; BOYS; DOPAMINE; BRAIN; ADULTS; ADOLESCENTS
AB Background: Following from previous work suggesting that neurobehavioral features distinguish fragile X and idiopathic variants of autism, we investigated the relationships between four forms of repetitive behavior (stereotypy, self-injury, compulsivity, ritual behavior) and caudate nuclei volume in two groups: boys with fragile X syndrome, a subset of whom met criteria for autism, and a comparison group of boys with idiopathic autism.
Methods: Bilateral caudate nuclei volumes were measured in boys aged 3 to 6 years with fragile X syndrome (n = 41), the subset of boys with fragile X syndrome and autism (n = 16), and boys with idiopathic autism (n = 30). Repetitive behaviors were measured using the Repetitive Behavior Scales-Revised.
Results: For boys with idiopathic autism, left caudate volume was modestly associated with self-injury, while both compulsive and ritual behaviors showed significant positive correlations with bilateral caudate nuclei volumes, replicating previous results. For boys with fragile X syndrome, there was no such association between caudate volume and compulsive behaviors. However, we did identify significant positive correlations between self-injury total scores and number of self-injury topographies with bilateral caudate nuclei volumes.
Conclusions: These findings suggest a specific role for the caudate nucleus in the early pathogenesis of self-injurious behavior associated with both idiopathic autism and fragile X syndrome. Results further indicate that the caudate may be differentially associated with compulsive behavior, highlighting the utility of isolating discrete brain-behavior associations within and between subtypes of autism spectrum disorder.
C1 [Wolff, Jason J.; Hazlett, Heather C.; Piven, Joseph] Univ N Carolina, Sch Med, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA.
[Hazlett, Heather C.; Piven, Joseph] Univ N Carolina, Sch Med, Dept Psychiat, Chapel Hill, NC 27599 USA.
[Lightbody, Amy A.; Reiss, Allan L.] Stanford Univ, Ctr Interdisciplinary Brain Sci Res, Stanford, CA 94305 USA.
[Lightbody, Amy A.; Reiss, Allan L.] Stanford Univ, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA.
RP Wolff, JJ (reprint author), Univ N Carolina, Sch Med, Carolina Inst Dev Disabil, CB 3367, Chapel Hill, NC 27599 USA.
EM jason.wolff@cidd.unc.edu
FU NIH [MH64708-05, MH61696, MH050047, P30 HD03110]
FX Sincere thanks to our participating children and their families. Thanks
also to Michael Graves, Martin Styner, Ph.D., and Jim Bodfish, Ph.D.
Research was supported by NIH grants MH64708-05 (Piven, Reiss), MH61696
(Piven), MH050047 (Reiss), and P30 HD03110 (Piven).
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NR 51
TC 6
Z9 6
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD MAY 2
PY 2013
VL 5
AR 12
DI 10.1186/1866-1955-5-12
PG 9
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA 143XE
UT WOS:000318901700002
PM 23639144
ER
PT J
AU Crespi, B
AF Crespi, Bernard
TI Developmental heterochrony and the evolution of autistic perception,
cognition and behavior
SO BMC MEDICINE
LA English
DT Article
DE Autism; Development; Evolution; Heterochrony
ID HIGH-FUNCTIONING AUTISM; COMPULSIVE-LIKE BEHAVIOR; WEAK CENTRAL
COHERENCE; EMBEDDED FIGURES TEST; SPECTRUM DISORDERS; HUMAN BRAIN;
ABSOLUTE PITCH; SCHIZOPHRENIC-PATIENTS; CORTICAL CONNECTIVITY;
HIERARCHICAL PATTERNS
AB Background: Autism is usually conceptualized as a disorder or disease that involves fundamentally abnormal neurodevelopment. In the present work, the hypothesis that a suite of core autism-related traits may commonly represent simple delays or non-completion of typical childhood developmental trajectories is evaluated.
Discussion: A comprehensive review of the literature indicates that, with regard to the four phenotypes of (1) restricted interests and repetitive behavior, (2) short-range and long-range structural and functional brain connectivity, (3) global and local visual perception and processing, and (4) the presence of absolute pitch, the differences between autistic individuals and typically developing individuals closely parallel the differences between younger and older children.
Summary: The results of this study are concordant with a model of 'developmental heterochrony', and suggest that evolutionary extension of child development along the human lineage has potentiated and structured genetic risk for autism and the expression of autistic perception, cognition and behavior.
C1 Simon Fraser Univ, Dept Biol Sci, Burnaby, BC V5A 1S6, Canada.
RP Crespi, B (reprint author), Simon Fraser Univ, Dept Biol Sci, 8888 Univ Dr, Burnaby, BC V5A 1S6, Canada.
EM crespi@sfu.ca
FU NSERC
FX The author is grateful to NSERC for financial support, to the CARTA
Center for motivating this work, to S Alam, M Brune, F Galis and Ze'ev
Hochberg for helpful comments, and to Silven Read for technical
assistance.
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Woodard CR, 2011, J AUTISM DEV DISORD, V41, P213, DOI 10.1007/s10803-010-1044-5
NR 158
TC 6
Z9 6
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1741-7015
J9 BMC MED
JI BMC Med.
PD MAY 2
PY 2013
VL 11
AR 119
DI 10.1186/1741-7015-11-119
PG 11
WC Medicine, General & Internal
SC General & Internal Medicine
GA 140YU
UT WOS:000318693200001
PM 23639054
ER
PT J
AU Hampton, T
AF Hampton, Tracy
TI Cell Distress and Autism
SO JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
LA English
DT News Item
CR Naviaux RK, 2013, PLOS ONE, V8, DOI 10.1371/journal.pone.0057380
NR 1
TC 0
Z9 0
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA
SN 0098-7484
EI 1538-3598
J9 JAMA-J AM MED ASSOC
JI JAMA-J. Am. Med. Assoc.
PD MAY 1
PY 2013
VL 309
IS 17
BP 1765
EP 1765
DI 10.1001/jama.2013.4802
PG 1
WC Medicine, General & Internal
SC General & Internal Medicine
GA 134SU
UT WOS:000318235600007
ER
PT J
AU Goldman, GS
AF Goldman, G. S.
TI Comparison of VAERS fetal-loss reports during three consecutive
influenza seasons: Was there a synergistic fetal toxicity associated
with the two-vaccine 2009/2010 season?
SO HUMAN & EXPERIMENTAL TOXICOLOGY
LA English
DT Article
DE Human toxicology; immunization; influenza vaccine; spontaneous abortion;
stillbirth; Thimerosal
ID CAPTURE-RECAPTURE METHODS; AUTISM SPECTRUM DISORDERS; VACCINATION
COVERAGE; MERCURY EXPOSURE; PREGNANT-WOMEN; UNITED-STATES;
ASCERTAINMENT; CHILDREN; PORPHYRINURIA; PREVALENCE
AB The aim of this study was to compare the number of inactivated-influenza vaccine-related spontaneous abortion and stillbirth (SB) reports in the Vaccine Adverse Event Reporting System (VAERS) database during three consecutive flu seasons beginning 2008/2009 and assess the relative fetal death reports associated with the two-vaccine 2009/2010 season. The VAERS database was searched for reports of fetal demise following administration of the influenza vaccine/vaccines to pregnant women. Utilization of an independent surveillance survey and VAERS, two-source capture-recapture analysis estimated the reporting completeness in the 2009/2010 flu season. Capture-recapture demonstrated that the VAERS database captured about 13.2% of the total 1321 (95% confidence interval (CI): 815-2795) estimated reports, yielding an ascertainment-corrected rate of 590 fetal-loss reports per million pregnant women vaccinated (or 1 per 1695). The unadjusted fetal-loss report rates for the three consecutive influenza seasons beginning 2008/2009 were 6.8 (95% CI: 0.1-13.1), 77.8 (95% CI: 66.3-89.4), and 12.6 (95% CI: 7.2-18.0) cases per million pregnant women vaccinated, respectively. The observed reporting bias was too low to explain the magnitude increase in fetal-demise reporting rates in the VAERS database relative to the reported annual trends. Thus, a synergistic fetal toxicity likely resulted from the administration of both the pandemic (A-H1N1) and seasonal influenza vaccines during the 2009/2010 season.
EM gsgoldman@roadrunner.com
FU National Coalition of Organized Women (NCOW)
FX This research received no specific grant from any funding agency in the
public, commercial, or not-for-profit sectors. The open access fee was
contributed by the National Coalition of Organized Women (NCOW).
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NR 48
TC 3
Z9 3
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 MAY
PY 2013
VL 32
IS 5
BP 464
EP 475
DI 10.1177/0960327112455067
PG 12
WC Toxicology
SC Toxicology
GA 148DM
UT WOS:000319223100002
PM 23023030
ER
PT J
AU Yoo, JY
Kim, JN
Shin, KJ
Kim, SH
Choi, HG
Jeon, HS
Koh, KS
Song, WC
AF Yoo, Ja-Young
Kim, Jeong-Nam
Shin, Kang-Jae
Kim, Soon-Heum
Choi, Hyun-Gon
Jeon, Hyun-Soo
Koh, Ki-Seok
Song, Wu-Chul
TI Centralization or Decentralization of Facial Structures in Korean Young
Adults
SO JOURNAL OF CRANIOFACIAL SURGERY
LA English
DT Article
DE Centralization; face; width; height
ID ATTRACTIVENESS; AVERAGENESS; ASYMMETRY; AUTISM; BEAUTY; FACE; EYE
AB It is well known that facial beauty is dictated by facial type, and harmony between the eyes, nose, and mouth. Furthermore, facial impression is judged according to the overall facial contour and the relationship between the facial structures. The aims of the present study were to determine the optimal criteria for the assessment of gathering or separation of the facial structures and to define standardized ratios for centralization or decentralization of the facial structures.
Four different lengths were measured, and 2 indexes were calculated from standardized photographs of 551 volunteers. Centralization and decentralization were assessed using the width index (interpupillary distance / facial width) and height index (eyes-mouth distance / facial height). The mean ranges of the width index and height index were 42.0 to 45.0 and 36.0 to 39.0, respectively. The width index did not differ with sex, but males had more decentralized faces, and females had more centralized faces, vertically. The incidence rate of decentralized faces among the men was 30.3%, and that of centralized faces among the women was 25.2%.
The mean ranges in width and height indexes have been determined in a Korean population. Faces with width and height index scores under and over the median ranges are determined to be "centralized" and "decentralized," respectively.
C1 [Yoo, Ja-Young; Kim, Jeong-Nam; Shin, Kang-Jae; Koh, Ki-Seok; Song, Wu-Chul] Konkuk Univ, Sch Med, Dept Anat, Res Inst Med Sci, Seoul 143701, South Korea.
[Kim, Soon-Heum; Choi, Hyun-Gon] Konkuk Univ, Sch Med, Dept Plast & Reconstruct Surg, Res Inst Med Sci, Seoul 143701, South Korea.
[Jeon, Hyun-Soo] Konkuk Univ, Sch Med, Dept Gynecol, Res Inst Med Sci, Seoul 143701, South Korea.
RP Song, WC (reprint author), Konkuk Univ, Sch Med, Dept Anat, 1 Hwayang Dong, Seoul 143701, South Korea.
EM anatomy@kku.ac.kr
FU Konkuk University
FX This work was supported by Konkuk University in 2012.
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NR 18
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 1049-2275
EI 1536-3732
J9 J CRANIOFAC SURG
JI J. Craniofac. Surg.
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BP 1007
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PG 4
WC Surgery
SC Surgery
GA 294WI
UT WOS:000330078200113
PM 23714934
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PT J
AU Parsons, S
Kasari, C
AF Parsons, Sarah
Kasari, Connie
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practices and promises
SO AUTISM
LA English
DT Editorial Material
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Parsons S., 2011, EUROPEAN J SPECIAL N, V26, P47, DOI 10.1080/08856257.2011.543532
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NR 3
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD MAY
PY 2013
VL 17
IS 3
SI SI
BP 251
EP 253
DI 10.1177/1362361313483624
PG 3
WC Psychology, Developmental
SC Psychology
GA 298EQ
UT WOS:000330307300001
PM 23802324
ER
PT J
AU Kasari, C
Smith, T
AF Kasari, Connie
Smith, Tristram
TI Interventions in schools for children with autism spectrum disorder:
Methods and recommendations
SO AUTISM
LA English
DT Article
DE autism; implementation science; intervention; school-based intervention;
treatment effectiveness evaluation
ID RANDOMIZED CONTROLLED-TRIAL; JOINT ATTENTION; YOUNG-CHILDREN;
SOCIAL-SKILLS; FLEXIBILITY; ATTITUDES; PROGRAMS; BEHAVIOR; SCIENCE;
ANXIETY
AB Although researchers have identified many promising teaching strategies and intervention programs for children with autism spectrum disorder, research on implementation of these interventions in school settings has lagged. Barriers to implementation include incompletely developed interventions, limited evidence of their utility in promoting long-term and meaningful change, and poor fit with school environments. To overcome these barriers, interventions need to be detailed in manuals that identify key components yet allow for flexibility, and studies need to evaluate long-term, real-life outcomes. Innovative research strategies also may be important, particularly carrying out research on new interventions in school settings from the outset, conducting partial effectiveness trials in which study personnel administer interventions in school settings, using community-partnered participatory research approaches, and redesigning interventions in a modular format.
C1 [Kasari, Connie] Univ Calif Los Angeles, Los Angeles, CA 90095 USA.
[Smith, Tristram] Univ Rochester, Rochester, NY 14627 USA.
RP Kasari, C (reprint author), Univ Calif Los Angeles, 760 Westwood Blvd,405 Hilgard Ave, Los Angeles, CA 90095 USA.
EM kasari@gseis.ucla.edu
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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 MAY
PY 2013
VL 17
IS 3
SI SI
BP 254
EP 267
DI 10.1177/1362361312470496
PG 14
WC Psychology, Developmental
SC Psychology
GA 298EQ
UT WOS:000330307300002
PM 23592848
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PT J
AU Parsons, S
Charman, T
Faulkner, R
Ragan, J
Wallace, S
Wittemeyer, K
AF Parsons, Sarah
Charman, Tony
Faulkner, Rachel
Ragan, Jude
Wallace, Simon
Wittemeyer, Kerstin
TI Commentary - bridging the research and practice gap in autism: The
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SO AUTISM
LA English
DT Article
DE collaboration; evidence-based practice; partnership; research-practice
gap; schools
ID SPECTRUM DISORDERS; SPECIAL-EDUCATION; CHILDREN; INTERVENTION;
CONSULTATION; TEACHERS
AB While the last 10 years have seen a significant increase in research published on early intervention and autism, there is a persistent disconnect between educational research and practice. Governments have invested significant funds in autism education, and a range of approaches have been implemented in schools, but there is limited research exploring whether these educational strategies are effective and a lack of involvement of teaching professionals in the research. Given that the majority of children and young people with autism spend most of their time in school and not in early or specialised intervention programmes, there is a compelling need to conduct better educational research and implement educational interventions in schools. We argue that building collaborative partnerships between researchers and school practitioners is central to achieving improved understanding of, and outcomes for, pupils on the autism spectrum. This commentary offers perspectives from teachers about their experiences of, and priorities for, research, and also presents a model of collaboration between autism school practitioners and researchers, which could support a more integrated approach to research. We reflect on the strengths and challenges of this as well as outcomes achieved so far.
C1 [Parsons, Sarah] Univ Southampton, Southampton SO17 1BJ, Hants, England.
[Faulkner, Rachel] Russet House Sch, Enfield, Middx, England.
[Ragan, Jude] Queensmill Sch, London, England.
[Wallace, Simon] Warneford Hosp, Oxford, England.
[Wittemeyer, Kerstin] Univ Birmingham, Birmingham B15 2TT, W Midlands, England.
RP Parsons, S (reprint author), Univ Southampton, Southampton Educ Sch, Southampton SO17 1BJ, Hants, England.
EM s.j.parsons@soton.ac.uk
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NR 45
TC 5
Z9 5
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 MAY
PY 2013
VL 17
IS 3
SI SI
BP 268
EP 280
DI 10.1177/1362361312472068
PG 13
WC Psychology, Developmental
SC Psychology
GA 298EQ
UT WOS:000330307300003
PM 23614936
ER
PT J
AU Mandell, DS
Stahmer, AC
Shin, S
Xie, M
Reisinger, E
Marcus, SC
AF Mandell, David S.
Stahmer, Aubyn C.
Shin, Sujie
Xie, Ming
Reisinger, Erica
Marcus, Steven C.
TI The role of treatment fidelity on outcomes during a randomized field
trial of an autism intervention
SO AUTISM
LA English
DT Article
DE autism; fidelity; implementation science; randomized trials;
school-based intervention
ID INTENSIVE BEHAVIORAL INTERVENTION; COMMUNICATION-SYSTEM PECS;
MENTAL-HEALTH-SERVICES; SPECTRUM DISORDERS; YOUNG-CHILDREN;
COMPREHENSIVE TREATMENTS; PIVOTAL RESPONSE; IMPLEMENTATION;
DISSEMINATION; CHALLENGES
AB This randomized field trial comparing Strategies for Teaching based on Autism Research and Structured Teaching enrolled educators in 33 kindergarten-through-second-grade autism support classrooms and 119 students, aged 5-8 years in the School District of Philadelphia. Students were assessed at the beginning and end of the academic year using the Differential Ability Scales. Program fidelity was measured through video coding and use of a checklist. Outcomes were assessed using linear regression with random effects for classroom and student. Average fidelity was 57% in Strategies for Teaching based on Autism Research classrooms and 48% in Structured Teaching classrooms. There was a 9.2-point (standard deviation = 9.6) increase in Differential Ability Scales score over the 8-month study period, but no main effect of program. There was a significant interaction between fidelity and group. In classrooms with either low or high program fidelity, students in Strategies for Teaching based on Autism Research experienced a greater gain in Differential Ability Scales score than students in Structured Teaching (11.2 vs 5.5 points and 11.3 vs 8.9 points, respectively). In classrooms with moderate fidelity, students in Structured Teaching experienced a greater gain than students in Strategies for Teaching based on Autism Research (10.1 vs 4.4 points). The results suggest significant variability in implementation of evidence-based practices, even with supports, and also suggest the need to address challenging issues related to implementation measurement in community settings.
C1 [Mandell, David S.; Xie, Ming; Reisinger, Erica; Marcus, Steven C.] Univ Penn, Philadelphia, PA 19104 USA.
[Stahmer, Aubyn C.] Rady Childrens Hosp, San Diego, CA USA.
[Shin, Sujie] WestEd, San Francisco, CA USA.
RP Mandell, DS (reprint author), Univ Penn, Ctr Mental Hlth Policy & Serv Res, Perelman Sch Med, 3rd Floor,3535 Market St, Philadelphia, PA 19104 USA.
EM mandelld@upenn.edu
RI Mandell, David/H-2730-2012
OI Mandell, David/0000-0001-8240-820X
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NR 61
TC 8
Z9 8
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 MAY
PY 2013
VL 17
IS 3
SI SI
BP 281
EP 295
DI 10.1177/1362361312473666
PG 15
WC Psychology, Developmental
SC Psychology
GA 298EQ
UT WOS:000330307300004
PM 23592849
ER
PT J
AU Calder, L
Hill, V
Pellicano, E
AF Calder, Lynsey
Hill, Vivian
Pellicano, Elizabeth
TI 'Sometimes I want to play by myself': Understanding what friendship
means to children with autism in mainstream primary schools
SO AUTISM
LA English
DT Article
DE friendships; peer relationships; mainstream school; theory of mind;
social skills
ID HIGH-FUNCTIONING CHILDREN; SPECTRUM DISORDERS; SOCIAL RELATIONSHIPS;
SECONDARY-SCHOOLS; PEER INTERACTION; MIND; LONELINESS; CLASSROOMS;
NETWORKS; ADOLESCENCE
AB Research has shown that friendship impacts the overall experience of mainstream school for autistic children. Using a unique combination of quantitative, qualitative and social network methods, we investigated the extent and nature of autistic children's friendships from their perspective and from those of their mothers, teachers and classroom peers. Consistent with previous research, children with autism (n = 12), aged between 9 and 11 years, rated their friendships to be of poorer quality than their non-autistic classroom peers (n = 11). There was, however, much variability in autistic children's ratings, which, unexpectedly, was related to neither children's cognitive ability nor their theory of mind ability. Encouragingly, the children generally reported satisfaction with their friendships, and although no child was socially isolated, the degree of inclusion in friendship networks varied widely. Furthermore, autistic children's social motivation emerged as a key factor in parents' and teachers' reports in determining both the nature and extent of their friendships. Adults played an active role in supporting children's friendships, but this sometimes conflicted with what the children wanted. These findings highlight the need to ascertain the perspectives of young people with autism on their friendships and to consider the social and ethical implications of when and how to intervene.
C1 [Calder, Lynsey; Hill, Vivian; Pellicano, Elizabeth] Univ London, Inst Educ, London WC1H 0AA, England.
[Calder, Lynsey] Haringey Educ Psychol Serv, London, England.
RP Pellicano, E (reprint author), Univ London, Inst Educ, Dept Psychol & Human Dev, Ctr Res Autism & Educ CRAE, 25 Woburn Sq, London WC1H 0AA, England.
EM l.pellicano@ioe.ac.uk
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NR 61
TC 5
Z9 5
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 MAY
PY 2013
VL 17
IS 3
SI SI
BP 296
EP 316
DI 10.1177/1362361312467866
PG 21
WC Psychology, Developmental
SC Psychology
GA 298EQ
UT WOS:000330307300005
PM 23188883
ER
PT J
AU Bauminger-Zviely, N
Eden, S
Zancanaro, M
Weiss, PL
Gal, E
AF Bauminger-Zviely, Nirit
Eden, Sigal
Zancanaro, Massimo
Weiss, Patrice L.
Gal, Eynat
TI Increasing social engagement in children with high-functioning autism
spectrum disorder using collaborative technologies in the school
environment
SO AUTISM
LA English
DT Article
DE children with high-functioning autism spectrum disorder; cognitive
behavioral therapy; social engagement; technology
ID ASPERGER-SYNDROME; TRAINING-PROGRAM; PEER INTERACTION; INTERVENTION;
ADOLESCENTS; SKILLS; ADULTS; MIND; IMPAIRMENT; PERCEPTION
AB This study examined the effectiveness of a school-based, collaborative technology intervention combined with cognitive behavioral therapy to teach the concepts of social collaboration and social conversation to children with high-functioning autism spectrum disorders (n = 22) as well as to enhance their actual social engagement behaviors (collaboration and social conversation) with peers. Two computer programs were included in the intervention: "Join-In" to teach collaboration and "No-Problem" to teach conversation. Assessment in the socio-cognitive area included concept perception measures, problem solving, Theory of Mind, and a dyadic drawing collaborative task to examine change in children's social engagement. Results demonstrated improvement in the socio-cognitive area with children providing more active social solutions to social problems and revealing more appropriate understanding of collaboration and social conversation after intervention, with some improvement in Theory of Mind. Improvement in actual social engagement was more scattered.
C1 [Bauminger-Zviely, Nirit; Eden, Sigal] Bar Ilan Univ, IL-52900 Ramat Gan, Israel.
[Zancanaro, Massimo] FBK, Trento, Italy.
[Weiss, Patrice L.; Gal, Eynat] Univ Haifa, IL-31999 Haifa, Israel.
RP Bauminger-Zviely, N (reprint author), Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel.
EM nirit.bauminger@biu.ac.il
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Weiss Patrice L, 2011, P ANN C OP U CHAIS C, P71
Weiss PL, 2011, P INT C VIRT REH ZUR, P300
Yuill N., 2012, T HUMAN COMPUTER INT, V19, P1
NR 59
TC 2
Z9 2
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD MAY
PY 2013
VL 17
IS 3
SI SI
BP 317
EP 339
DI 10.1177/1362361312472989
PG 23
WC Psychology, Developmental
SC Psychology
GA 298EQ
UT WOS:000330307300006
PM 23614935
ER
PT J
AU Wong, CS
AF Wong, Connie S.
TI A play and joint attention intervention for teachers of young children
with autism: A randomized controlled pilot study
SO AUTISM
LA English
DT Article
DE autism; intervention; joint attention; joint engagement; play;
preschool; teachers
ID SYMBOLIC PLAY; SPECTRUM-DISORDER; LANGUAGE; COMMUNICATION; PRESCHOOLERS;
ENGAGEMENT; TODDLERS
AB The aim of this study was to pilot test a classroom-based intervention focused on facilitating play and joint attention for young children with autism in self-contained special education classrooms. Thirty-three children with autism between the ages of 3 and 6 years participated in the study with their classroom teachers (n = 14). The 14 preschool special education teachers were randomly assigned to one of three groups: (1) symbolic play then joint attention intervention, (2) joint attention then symbolic intervention, and (3) wait-list control period then further randomized to either group 1 or group 2. In the intervention, teachers participated in eight weekly individualized 1-h sessions with a researcher that emphasized embedding strategies targeting symbolic play and joint attention into their everyday classroom routines and activities. The main child outcome variables of interest were collected through direct classroom observations. Findings indicate that teachers can implement an intervention to significantly improve joint engagement of young children with autism in their classrooms. Furthermore, multilevel analyses showed significant increases in joint attention and symbolic play skills. Thus, these pilot data emphasize the need for further research and implementation of classroom-based interventions targeting play and joint attention skills for young children with autism.
C1 [Wong, Connie S.] Univ N Carolina, Chapel Hill, NC 27599 USA.
RP Wong, CS (reprint author), Univ N Carolina, Frank Porter Graham Child Dev Inst, Sheryl Mar South CB 8040, Chapel Hill, NC 27599 USA.
EM connie.wong@unc.edu
CR Adamson LB, 2004, CHILD DEV, V75, P1171, DOI 10.1111/j.1467-8624.2004.00732.x
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Wong CS, 2003, 19 ANN DEC C YOUNG C
NR 41
TC 7
Z9 7
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 MAY
PY 2013
VL 17
IS 3
SI SI
BP 340
EP 357
DI 10.1177/1362361312474723
PG 18
WC Psychology, Developmental
SC Psychology
GA 298EQ
UT WOS:000330307300007
PM 23610236
ER
PT J
AU Mucchetti, CA
AF Mucchetti, Charlotte A.
TI Adapted shared reading at school for minimally verbal students with
autism
SO AUTISM
LA English
DT Article
DE autism; engagement; literacy; school-based intervention; shared reading;
single-case research design
ID SPECTRUM DISORDER; JOINT ATTENTION; CHILDREN; DISABILITIES;
COMPREHENSION; INSTRUCTION; PATTERNS; STORIES
AB Almost nothing is known about the capacity of minimally verbal students with autism to develop literacy skills. Shared reading is a regular practice in early education settings and is widely thought to encourage language and literacy development. There is some evidence that children with severe disabilities can be engaged in adapted shared reading activities. The current study examines the impact of teacher-led adapted shared reading activities on engagement and story comprehension in minimally verbal 5-6-year-old children with autism using a multiple baseline/alternating treatment design. Four students and three teachers participated. Teachers conducted adapted shared reading activities with modified books (visual supports, three-dimensional objects, simplified text) and used specific strategies for increasing student engagement. Student performance during adapted activities was compared to performance during standard shared reading sessions. Results: All four students showed increased story comprehension and engagement during adapted shared reading. Average percentage of session engaged was 87%-100% during adapted sessions, compared with 41%-52% during baseline. Average number of correct responses to story comprehension questions was 4.2-4.8 out of 6 during adapted sessions compared with 1.2-2 during baseline. Visual supports, tactile objects, and specific teaching strategies offer ways for minimally verbal students to meaningfully participate in literacy activities. Future research should investigate adapted shared reading activities implemented classroomwide as well as joint engagement, language, and literacy outcomes after using such activities over time.
C1 [Mucchetti, Charlotte A.] Univ Calif Los Angeles, Los Angeles, CA 90024 USA.
RP Mucchetti, CA (reprint author), Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, 760 Westwood Plaza,Rm 68-217, Los Angeles, CA 90024 USA.
EM cmucchetti@gmail.com
CR Anderson DK, 2007, J CONSULT CLIN PSYCH, V75, P594, DOI 10.1037/0022-006X.75.4.594
Biemiller A., 2003, READING PSYCHOL, V24, P323, DOI DOI 10.1080/02702710390227297
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Coyne M., 2004, EXCEPTIONALITY, V12, P145, DOI DOI 10.1207/S15327035EX1203_3
Davie J, 2002, ED PSYCHOL, V22, P445, DOI 10.1080/0144341022000003123
Fisher D, 2008, READ TEACH, V61, P548, DOI 10.1598/RT.61.7.4
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Katims DS, 2000, EDUC TRAIN MENT RET, V35, P3
Kazdin A. E., 2010, SINGLE CASE RES DESI
Kincaid D., 2003, FOCUS AUTISM OTHER D, V18, P150, DOI DOI 10.1177/10883576030180030301
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Mims PJ, 2012, FOCUS AUTISM DEV DIS, V27, P67, DOI 10.1177/1088357612446859
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NR 31
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 MAY
PY 2013
VL 17
IS 3
SI SI
BP 358
EP 372
DI 10.1177/1362361312470495
PG 15
WC Psychology, Developmental
SC Psychology
GA 298EQ
UT WOS:000330307300008
PM 23592847
ER
PT J
AU Fitzmaurice, CS
Corbier, JR
Wikstrom, EA
Sherry, L
Cordova, ML
Howden, R
AF Fitzmaurice, Christopher S.
Corbier, Jean-Ronel
Wikstrom, Erik A.
Sherry, Lee
Cordova, Mitchell L.
Howden, Reuben
TI Effects Of Resistance Training On Social Behavior, Self-esteem, And
Physical Fitness In Children With Autism
SO MEDICINE AND SCIENCE IN SPORTS AND EXERCISE
LA English
DT Meeting Abstract
CT 60th Annual Meeting of the American-College-of-Sports-Medicine
CY MAY 28-JUN 01, 2013
CL Indianapolis, IN
SP Amer Coll Sports Med
C1 [Fitzmaurice, Christopher S.; Wikstrom, Erik A.; Sherry, Lee; Howden, Reuben] UNC Charlotte, Charlotte, NC USA.
[Corbier, Jean-Ronel] Carolinas Med Ctr North East, Concord, NC USA.
[Cordova, Mitchell L.] Florida Gulf Coast Univ, Ft Myers, FL USA.
NR 0
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0195-9131
EI 1530-0315
J9 MED SCI SPORT EXER
JI Med. Sci. Sports Exerc.
PD MAY
PY 2013
VL 45
IS 5
SU 1
MA 2033
BP 472
EP 472
PG 1
WC Sport Sciences
SC Sport Sciences
GA 300ND
UT WOS:000330469703364
ER
PT J
AU Schenkelberg, MA
Rosenkranz, RR
Milliken, GA
Dzewaltowski, DA
AF Schenkelberg, Michaela A.
Rosenkranz, Richard R.
Milliken, George A.
Dzewaltowski, David A.
TI Social Environmental Variables Associated with Physical Activity
Behaviors of Children with Autism Spectrum Disorders
SO MEDICINE AND SCIENCE IN SPORTS AND EXERCISE
LA English
DT Meeting Abstract
CT 60th Annual Meeting of the American-College-of-Sports-Medicine
CY MAY 28-JUN 01, 2013
CL Indianapolis, IN
SP Amer Coll Sports Med
C1 [Schenkelberg, Michaela A.; Rosenkranz, Richard R.; Milliken, George A.; Dzewaltowski, David A.] Kansas State Univ, Manhattan, KS 66506 USA.
NR 0
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0195-9131
EI 1530-0315
J9 MED SCI SPORT EXER
JI Med. Sci. Sports Exerc.
PD MAY
PY 2013
VL 45
IS 5
SU 1
MA 2080
BP 486
EP 486
PG 1
WC Sport Sciences
SC Sport Sciences
GA 300ND
UT WOS:000330469704025
ER
PT J
AU Roxburgh, CA
Carbone, VJ
AF Roxburgh, Carole A.
Carbone, Vincent J.
TI The Effect of Varying Teacher Presentation Rates on Responding During
Discrete Trial Training for Two Children With Autism
SO BEHAVIOR MODIFICATION
LA English
DT Article
DE antecedent manipulations; autism; instructional demands; presentation
rate; problem behavior
ID BEHAVIORAL TREATMENT; INTERVAL DURATION; SELF-STIMULATION; ESCAPE
AB Recent research has emphasized the importance of manipulating antecedent variables to reduce interfering behaviors when teaching persons with autism. Few studies have focused on the effects of the rate of teacher-presented instructional demands as an independent variable. In this study, an alternating treatment design was used to evaluate the effects of varied rates of teacher-presented demands (1 s, 5 s, 10 s) on the occurrence of problem behavior, opportunities to respond, responses emitted, accuracy of responding, and magnitude and rate of reinforcement for two children with autism. Results indicated that fast presentation rate (1 s) resulted in lower rates of problem behavior, higher frequencies of instructional demands, higher frequencies of participant responding, and greater magnitudes and rates of reinforcement. Differential effects on accuracy of responding across conditions were not observed. Implications for manipulating the rate of teacher-presented instructional demands as an antecedent variable to reduce problem behavior are discussed.
C1 [Roxburgh, Carole A.; Carbone, Vincent J.] Carbone Clin, Valley Cottage, NY 10989 USA.
RP Carbone, VJ (reprint author), Carbone Clin, 614 Corp Way,Suite 1, Valley Cottage, NY 10989 USA.
EM drvjc@aol.com
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NR 39
TC 3
Z9 3
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0145-4455
EI 1552-4167
J9 BEHAV MODIF
JI Behav. Modificat.
PD MAY
PY 2013
VL 37
IS 3
BP 298
EP 323
DI 10.1177/0145445512463046
PG 26
WC Psychology, Clinical
SC Psychology
GA 297YK
UT WOS:000330290800002
PM 23144174
ER
PT J
AU Falkai, P
Reich-Erkelenz, D
Malchow, B
Schmitt, A
Majtenyi, K
AF Falkai, P.
Reich-Erkelenz, D.
Malchow, B.
Schmitt, A.
Majtenyi, K.
TI Brain Development before Onset of the First Psychotic Episode and during
Outcome of Schizophrenia
SO FORTSCHRITTE DER NEUROLOGIE PSYCHIATRIE
LA German
DT Review
DE brain development; first-episode schizophrenia; schizoprenic disorder
ID LIMBIC SYSTEM; BASAL GANGLIA; HIPPOCAMPAL; VOLUMES; NEUREGULIN-1;
METAANALYSIS; 1ST-EPISODE; POSTMORTEM; PLASTICITY; PATHOLOGY
AB A circumscribed association between copy number variations and the diagnosis of schizophrenia or autism but not bipolar disorder supports the notion of schizophrenia and autism principally representing a disturbed brain development. Data of multiply affected families show certain brain structural (e.g. hippocampal) changes to also be present in their first-grade relatives with: out leading to psychopathological abnormalities. It thus can be concluded that there exist regional fronto-temporal changes in schizophrenia due to genetically early determined primary vulnerability. The transition of this vulnerability into a prodrome to the point of the fully developed disease is triggered by relevant environmental factors. Hippocampal brain structural changes do not base on neuronal loss, for which reason the underlying mechanism might be a reduction of neuropil and thus a disturbance of synaptic processes or even regenerative mechanisms. Thus, disturbed regenerative mechanisms might be linked to the course of schizophrenic psychosis: the more pronounced the negative symptoms, the more evident the impaired synaptic or neuronal plasticity. Based on initial data we speculate the disturbed synaptic/plastic processes to result from an impaired epigenetic regulation. This could explain how relevant environmental factors (pregnancy and birth complications, early childhood abuse or cannabis abuse) via risk genes might lead to a destabilized neuronal network which in the end could trigger schizophrenia symptoms on the behavioral level.
C1 [Falkai, P.; Reich-Erkelenz, D.; Malchow, B.; Schmitt, A.] Univ Munich, Klin Psychiat & Psychotherapie, D-80336 Munich, Germany.
[Majtenyi, K.] Semmelweis Univ Budapest, Neuropathol & Prion Dis Reference Ctr, Budapest, Hungary.
RP Falkai, P (reprint author), Univ Munich, Klin Psychiat & Psychotherapie, Nussbaumstr 7, D-80336 Munich, Germany.
EM Peter.Falkai@med.uni-muenchen.de
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NR 36
TC 1
Z9 1
PU GEORG THIEME VERLAG KG
PI STUTTGART
PA RUDIGERSTR 14, D-70469 STUTTGART, GERMANY
SN 0720-4299
EI 1439-3522
J9 FORTSCHR NEUROL PSYC
JI Forschritte Neurol. Psychiatr.
PD MAY
PY 2013
VL 81
IS 5
BP 260
EP 264
DI 10.1055/s-0033-1335548
PG 5
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 161VK
UT WOS:000320221200021
PM 23695790
ER
PT J
AU d'Abrera, C
Franklin, C
O'Brien, G
Trollor, J
AF d'Abrera, Carlos
Franklin, Catherine
O'Brien, Gregory
Trollor, Julian
TI PSYCHIATRIC ILLNESS AND BEHAVIOURAL DISORDERS IN ADULTS WITH AUTISM:
ESSENTIAL MANAGEMENT SKILLS FOR THE PSYCHIATRIST
SO AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY
LA English
DT Meeting Abstract
ID MENTAL ILL-HEALTH; INTELLECTUAL DISABILITIES; PREVALENCE
C1 [Franklin, Catherine; O'Brien, Gregory] Univ Queensland, St Lucia, Qld, Australia.
[Trollor, Julian] Univ New S Wales, Sch Psychiat, Sydney, NSW, Australia.
CR Cooper SA, 2007, BRIT J PSYCHIAT, V190, P27, DOI 10.1192/bjp.bp.106.022483
Melville CA, 2008, J AUTISM DEV DISORD, V38, P1676, DOI 10.1007/s10803-008-0549-7
NR 2
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 MAY
PY 2013
VL 47
IS S1
SU 1
BP 6
EP 7
PG 2
WC Psychiatry
SC Psychiatry
GA 287LI
UT WOS:000329542900015
ER
PT J
AU Eapen, V
Fulton, E
Crncec, R
Walter, A
AF Eapen, Valsamma
Fulton, Elizabeth
Crncec, Rudi
Walter, Amelia
TI EARLY START DENVER MODEL: AN EARLY INTERVENTION PROGRAM FOR PRESCHOOL
CHILDREN W ITH AUTISM SPECTRUM DISORDER (ASD)
SO AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY
LA English
DT Meeting Abstract
C1 [Eapen, Valsamma; Crncec, Rudi; Walter, Amelia] Univ New S Wales, Sydney, NSW, Australia.
[Fulton, Elizabeth] KU Childrens Serv, Sydney, NSW, Australia.
NR 0
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 MAY
PY 2013
VL 47
IS S1
SU 1
BP 19
EP 19
PG 1
WC Psychiatry
SC Psychiatry
GA 287LI
UT WOS:000329542900045
ER
PT J
AU Cecinati, V
Principi, N
Brescia, L
Giordano, P
Esposito, S
AF Cecinati, Valerio
Principi, Nicola
Brescia, Letizia
Giordano, Paola
Esposito, Susanna
TI Vaccine administration and the development of immune thrombocytopenic
purpura in children
SO HUMAN VACCINES & IMMUNOTHERAPEUTICS
LA English
DT Review
DE adverse events; immune thrombocytopenic purpura; MMR; platelets; vaccine
safety; vaccine
ID MUMPS-RUBELLA IMMUNIZATION; HEPATITIS-B-VACCINE; INFLUENZA VACCINATION;
UNITED-STATES; MMR VACCINE; MEASLES; RISK; ADULTS
AB The most important reasons cited by the opponents of vaccines are concerns about vaccine safety. Unlike issues such as autism for which no indisputable documentation of direct relationship with vaccine use is available, immune thrombocytopenic purpura (ITP) is an adverse event that can really follow vaccine administration, and may limit vaccine use because little is known about which vaccines it may follow, its real incidence and severity, the risk of chronic disease, or the possibility of recurrences after new doses of the same vaccine. The main aim of this review is to clarify the real importance of thrombocytopenia as an adverse event and discuss how it may interfere with recommended vaccination schedules. The available data clearly indicate that ITP is very rare and the only vaccine for which there is a demonstrated cause-effect relationship is the measles, mumps and rubella (MMR) vaccine that can occur in 1 to 3 children every 100,000 vaccine doses. However, also in this case, the incidence of ITP is significantly lower than that observed during the natural diseases that the vaccine prevents. Consequently, ITP cannot be considered a problem limiting vaccine use except in the case of children suffering from chronic ITP who have to receive MMR vaccine. In these subjects, the risk-benefit ratio of the vaccine should be weighed against the risk of measles in the community.
C1 [Cecinati, Valerio] Santo Spirito Hosp, Dept Hematol, Div Pediat Hematol & Oncol, Pescara, Italy.
[Principi, Nicola; Esposito, Susanna] Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Pathophysiol & Transplantat, Pediat Clin 1, Milan, Italy.
[Brescia, Letizia] IRCCS Bambino Gesu Hosp, Hematol Oncol Unit, Rome, Italy.
[Giordano, Paola] Univ Bari, Dept Dev Age Biomed, Bari, Italy.
RP Esposito, S (reprint author), Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Pathophysiol & Transplantat, Pediat Clin 1, Milan, Italy.
EM susanna.esposito@unimi.it
FU Italian Ministry of Health (Bando Giovani Ricercatori)
FX The authors have no conflict of interest to declare. This study was
supported in part by a grant from the Italian Ministry of Health (Bando
Giovani Ricercatori 2007).
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NR 52
TC 2
Z9 3
PU LANDES BIOSCIENCE
PI AUSTIN
PA 1806 RIO GRANDE ST, AUSTIN, TX 78702 USA
SN 2164-5515
EI 2164-554X
J9 HUM VACC IMMUNOTHER
JI Human Vaccines Immunother.
PD MAY 1
PY 2013
VL 9
IS 5
BP 1158
EP 1162
DI 10.4161/hv.23601
PG 5
WC Biotechnology & Applied Microbiology; Immunology
SC Biotechnology & Applied Microbiology; Immunology
GA 259SD
UT WOS:000327545700031
PM 23324619
ER
PT J
AU Gabriels, RL
Agnew, JA
Pan, ZX
Holt, KD
Reynolds, A
Laudenslager, ML
AF Gabriels, Robin L.
Agnew, John A.
Pan, Zhaoxing
Holt, Katherine D.
Reynolds, Ann
Laudenslager, Mark L.
TI Elevated repetitive behaviors are associated with lower diurnal salivary
cortisol levels in autism spectrum disorder
SO BIOLOGICAL PSYCHOLOGY
LA English
DT Article
DE Adjunctive behavior; Autism spectrum disorder; Cortisol; Rhythms;
Coping; Cortisol awakening response; Individual variability;
Hypothalamic-pituitary-adrenal axis; Repetitive behaviors; Stereotypies;
Sleep
ID PITUITARY-ADRENAL ACTIVITY; STEREOTYPED BEHAVIORS; MENTAL-RETARDATION;
CIRCADIAN-RHYTHMS; YOUNG-CHILDREN; CHRONIC STRESS; ADULTS; DETERMINANTS;
SENSITIVITY; PREVALENCE
AB Previously, we reported a subgroup of children with autism spectrum disorders (ASD) had consistently high rates of repetitive behaviors (RBs) with abnormal sensory sensitivity. Given evidence of lower cortisol levels in response to stress and associated sensory sensitivity in the ASD population, this pilot study evaluates whether the presence of RBs reflects an underlying pathophysiology related to cortisol regulation. Diurnal salivary cortisol from 21 children with ASD and high versus low occurrence RBs were collected at four time points over three consecutive days. Although a typical decline in salivary cortisol was observed, participants in the high RB group showed 36% lower diurnal salivary cortisol than the low RB group. Age, IQ, RB type, and sleep quality were unrelated to observed differences. These findings suggest that RBs may serve to mitigate distress or that the glucocorticoid system has been down regulated in association with prolonged distress in this sample population. Published by Elsevier B.V.
C1 [Gabriels, Robin L.; Agnew, John A.; Pan, Zhaoxing; Holt, Katherine D.; Reynolds, Ann] Childrens Hosp Colorado, Aurora, CO 80045 USA.
[Gabriels, Robin L.; Agnew, John A.; Pan, Zhaoxing; Laudenslager, Mark L.] Univ Colorado Denver, Aurora, CO 80045 USA.
RP Gabriels, RL (reprint author), Childrens Hosp Colorado, 13123 E 16th Ave, Aurora, CO 80045 USA.
EM Robin.gabriels@childrenscolorado.org; John.agnew@colorado.edu;
Zhaoxing.pan@childrenscolorado.org; katherineduncanholt@gmail.com;
Ann.Reynolds@childrenscolorado.org; Mark.Laudenslager@ucdenver.edu
FU NIH [NR012736-01]; Colorado CTSI [UL1 RR025780]; Developmental
Psychobiology Endowment Fund; University of Colorado Denver Anschutz
Medical Campus; Department of Psychiatry; Autism Speaks [7498]
FX The present study was supported in part by an NIH Grant, NR012736-01
(RLG), and Colorado CTSI Grant Number UL1 RR025780, a grant from the
Developmental Psychobiology Endowment Fund, University of Colorado
Denver Anschutz Medical Campus, Department of Psychiatry, and Award #
7498 (MLL) from Autism Speaks. The authors are grateful to Briar
DeChant, Mark Goldstein, Crystal Natvig, and Kendra Sherwood for their
valuable contributions to this study.
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NR 59
TC 8
Z9 8
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0301-0511
EI 1873-6246
J9 BIOL PSYCHOL
JI Biol. Psychol.
PD MAY
PY 2013
VL 93
IS 2
BP 262
EP 268
DI 10.1016/j.biopsycho.2013.02.017
PG 7
WC Psychology, Biological; Behavioral Sciences; Psychology; Psychology,
Experimental
SC Psychology; Behavioral Sciences
GA 245LK
UT WOS:000326465000002
PM 23466586
ER
PT J
AU Vanzo, RJ
Martin, MM
Sdano, MR
South, ST
AF Vanzo, Rena J.
Martin, Megan M.
Sdano, Mallory R.
South, Sarah T.
TI Familial KANK1 deletion that does not follow expected imprinting pattern
SO EUROPEAN JOURNAL OF MEDICAL GENETICS
LA English
DT Article
DE 9p24.3; Autism spectrum disorders; Cerebral palsy; Imprinting; KANK1;
Monoallelic expression
ID COPY-NUMBER VARIANTS; MATERNAL ISODISOMY; UNIPARENTAL DISOMY;
CHROMOSOME-9; GENE
AB Deletion of the KANK1 gene (also called ANKRD15), located at chromosome position 9p24.3, has been associated with neurodevelopmental disease including congenital cerebral palsy, hypotonia, quadriplegia, and intellectual disability in a four-generation family. The inheritance pattern in this family was suggested to be maternal imprinting, as all affected individuals inherited the deletion from their fathers and monoallelic protein expression was observed.
We present a family in which the proband's phenotype, including autism spectrum disorder, motor delay, and intellectual disability, is consistent with this previous report of KANK1 deletions. However, a paternally inherited deletion in the proband's unaffected sibling did not support maternal imprinting. This family raises consideration of further complexity of the KANK1 locus, including variable expressivity, incomplete penetrance, and the additive effects of additional genomic variants or the potential benign nature of inherited copy number variations (CNVs). However, when considered with the previous publication, our case also suggests that KANK1 may be subject to random monoallelic expression as a possible mode of inheritance. It is also important to consider that KANK1 has two alternately spliced transcripts, A and B. These have differential tissue expression and thus potentially differential clinical significance. Based upon cases in the literature, the present case, and information in the Database of Genomic Variants, it is possible that only aberrations of variant A contribute to neurodevelopmental disease.
The familial deletion in this present case does not support maternal imprinting as an inheritance pattern. We suggest that other inheritance patterns and caveats should be considered when evaluating KANK1 deletions, which may become increasingly recognized through whole genome microarray testing, whole genome sequencing, and whole exome sequencing techniques. (C) 2013 Elsevier Masson SAS. All rights reserved.
C1 [Vanzo, Rena J.; Martin, Megan M.; Sdano, Mallory R.] Lineagen Inc, Salt Lake City, UT 84108 USA.
[South, Sarah T.] ARUP Labs, Salt Lake City, UT USA.
[South, Sarah T.] Univ Utah, Dept Pediat, Salt Lake City, UT USA.
[South, Sarah T.] Univ Utah, Dept Pathol, Salt Lake City, UT USA.
RP Vanzo, RJ (reprint author), Lineagen Inc, 423 Wakara Way,Ste 200, Salt Lake City, UT 84108 USA.
EM rvanzo@lineagen.com
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NR 11
TC 2
Z9 2
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 1769-7212
J9 EUR J MED GENET
JI Eur. J. Med. Genet.
PD MAY
PY 2013
VL 56
IS 5
BP 256
EP 259
DI 10.1016/j.ejmg.2013.02.006
PG 4
WC Genetics & Heredity
SC Genetics & Heredity
GA 224NF
UT WOS:000324893100006
PM 23454270
ER
PT J
AU Swaminathan, M
Foong, JPP
Ellis, M
Bornstein, JC
Hill-Yardin, EL
AF Swaminathan, Mathusi
Foong, Jaime Pei Pei
Ellis, Melina
Bornstein, Joel C.
Hill-Yardin, Elisa L.
TI Nitric Oxide Mediated Colonic Motility Is Altered in the Neuroligin-3
R451c Mouse Model of Autism
SO GASTROENTEROLOGY
LA English
DT Meeting Abstract
CT Digestive Disease Week
CY MAY 18-21, 2013
CL Orlando, FL
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 0016-5085
J9 GASTROENTEROLOGY
JI Gastroenterology
PD MAY
PY 2013
VL 144
IS 5
SU 1
BP S543
EP S543
PG 1
WC Gastroenterology & Hepatology
SC Gastroenterology & Hepatology
GA 199LY
UT WOS:000322997203161
ER
PT J
AU Theoharides, T
Zhang, BD
Asadi, S
Weng, ZY
AF Theoharides, Theoharis
Zhang, Bodi
Asadi, Shahrzad
Weng, Zuyi
TI Human mast cells secrete mitochondrial DNA that has inflammatory
actions, is increased in the serum of children with autism, and is
inhibited by luteolin
SO JOURNAL OF IMMUNOLOGY
LA English
DT Meeting Abstract
CT 100th Annual Meeting of the American-Association-of-Immunologists
CY MAY 03-07, 2013
CL Honolulu, HI
SP Amer Assoc Immunologists
C1 [Theoharides, Theoharis; Zhang, Bodi; Asadi, Shahrzad; Weng, Zuyi] Tufts Univ, Sch Med, Boston, MA 02111 USA.
[Theoharides, Theoharis; Asadi, Shahrzad] Tufts Med Ctr, Boston, MA USA.
NR 0
TC 0
Z9 0
PU AMER ASSOC IMMUNOLOGISTS
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0022-1767
J9 J IMMUNOL
JI J. Immunol.
PD MAY 1
PY 2013
VL 190
MA P3155
PG 1
WC Immunology
SC Immunology
GA 199ID
UT WOS:000322987103081
ER
PT J
AU [Anonymous]
AF [Anonymous]
TI Autism research priorities
SO PSYCHOLOGIST
LA English
DT Letter
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 MAY
PY 2013
VL 26
IS 5
BP 323
EP 323
PG 1
WC Psychology, Multidisciplinary
SC Psychology
GA 204KH
UT WOS:000323363700020
ER
PT J
AU Hopkins, WD
Taglialatela, JP
AF Hopkins, William D.
Taglialatela, Jared P.
TI Initiation of Joint Attention is Associated with Morphometric Variation
in the Anterior Cingulate Cortex of Chimpanzees (Pan troglodytes)
SO AMERICAN JOURNAL OF PRIMATOLOGY
LA English
DT Article
DE anterior cingulate cortex; communication; joint attention
ID AUTISM SPECTRUM DISORDER; GORILLAS GORILLA-GORILLA; WHOLE-BRAIN
ANALYSIS; VON ECONOMO NEURONS; NEUROCOGNITIVE FUNCTION; GESTURAL
COMMUNICATION; FUTURE-DIRECTIONS; SOCIAL COGNITION; STRUCTURAL MRI;
YOUNG-CHILDREN
AB In developing human children, joint attention (JA) is an important preverbal skill fundamental to the development of language. Poor JA skills have been described as a behavioral risk factor for some neurodevelopmental disorders, such as autism spectrum disorder. It has been hypothesized that the anterior cingulate cortex (ACC) plays an important role in the development of JA in human children. Here, we tested whether the morphometry and lateralization of the ACC differed between chimpanzees that were classified as either consistently or inconsistently engaging in JA with a human experimenter. Results showed that chimpanzees that performed poorly on the JA task had larger gray matter (GM) volumes in the ACC compared to apes that performed well on the task. In addition, both population-level asymmetries and sex differences in the volume of GM were found within the ACC. Specifically, females had relatively larger GM volumes in two of the three subregions of the ACC compared to males, and significant leftward asymmetries were found for two of the subregions whereas a rightward bias was observed in the third. Based on these findings, we suggest that the ACC plays an important role in mediating JA, not just in humans, but also chimpanzees. We further suggest that the differences found between groups may reflect inherent differences in the amount of white matter within the ACC, thereby suggesting reduced connectivity between the ACC and other cortical regions in chimpanzees with poor JA skills. Am. J. Primatol. 75:441-449, 2013. (c) 2013 Wiley Periodicals, Inc.
C1 [Hopkins, William D.; Taglialatela, Jared P.] Yerkes Natl Primate Res Ctr, Div Dev & Cognit Neurosci, Atlanta, GA USA.
[Hopkins, William D.] Georgia State Univ, Inst Neurosci, Atlanta, GA 30303 USA.
[Hopkins, William D.] Georgia State Univ, Language Res Ctr, Atlanta, GA 30303 USA.
[Taglialatela, Jared P.] Kennesaw State Univ, Dept Biol & Phys, Kennesaw, GA USA.
RP Hopkins, WD (reprint author), POB 5030, Atlanta, GA 30302 USA.
EM whopkins4@gsu.edu
FU NIH [MH-92923, NS-42867, HD-56232, HD-60563]
FX Contract grant sponsor: NIH; contract grant numbers: MH-92923; NS-42867;
HD-56232; HD-60563.
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NR 74
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0275-2565
EI 1098-2345
J9 AM J PRIMATOL
JI Am. J. Primatol.
PD MAY
PY 2013
VL 75
IS 5
SI SI
BP 441
EP 449
DI 10.1002/ajp.22120
PG 9
WC Zoology
SC Zoology
GA 115LY
UT WOS:000316814900006
PM 23300067
ER
PT J
AU Roberts, AL
Lyall, K
Rich-Edwards, JW
Ascherio, A
Weisskopf, MG
AF Roberts, Andrea L.
Lyall, Kristen
Rich-Edwards, Janet W.
Ascherio, Alberto
Weisskopf, Marc G.
TI Association of Maternal Exposure to Childhood Abuse With Elevated Risk
for Autism in Offspring
SO JAMA PSYCHIATRY
LA English
DT Article
ID RECEPTOR-ALPHA EXPRESSION; PITUITARY-ADRENAL AXIS; MEDIAL PREOPTIC AREA;
SPECTRUM DISORDERS; SEXUAL-ABUSE; ADULT WOMEN; HOUSEHOLD DYSFUNCTION;
PSYCHIATRIC-DISORDERS; DIAGNOSTIC INTERVIEW; PRENATAL INFECTION
AB Importance: Adverse perinatal circumstances have been associated with increased risk for autism in offspring. Women exposed to childhood abuse experience more adverse perinatal circumstances than women unexposed, but whether maternal abuse is associated with autism in offspring is unknown.
Objectives: To determine whether maternal exposure to childhood abuse is associated with risk for autism in offspring and whether possible increased risk is accounted for by a higher prevalence of adverse perinatal circumstances among abused women, including toxemia, low birth weight, gestational diabetes, previous induced abortion, intimate partner abuse, pregnancy length shorter than 37 weeks, selective serotonin reuptake inhibitor use, and alcohol use and smoking during pregnancy.
Design and Setting: Nurses' Health Study II, a population-based longitudinal cohort of 116 430 women.
Participants: Nurses with data on maternal childhood abuse and child's autism status (97.0% were of white race/ethnicity). Controls were randomly selected from among children of women who did not report autism in offspring (participants included 451 mothers of children with autism and 52 498 mothers of children without autism).
Main Outcome Measures: Autism spectrum disorder in offspring, assessed by maternal report and validated with the Autism Diagnostic Interview-Revised in a subsample.
Results: Exposure to abuse was associated with increased risk for autism in children in a monotonically increasing fashion. The highest level of abuse was associated with the greatest prevalence of autism (1.8% vs 0.7% among women not abused, P=.005) and with the greatest risk for autism adjusted for demographic factors (risk ratio, 3.7; 95% CI, 2.3-5.8). All adverse perinatal circumstances except low birth weight were more prevalent among women abused in childhood. Adjusted for perinatal factors, the association of maternal childhood abuse with autism in offspring was slightly attenuated (risk ratio for highest level of abuse, 3.0; 95% CI, 1.9-4.8).
Conclusions and Relevance: We identify an intergenerational association between maternal exposure to childhood abuse and risk for autism in the subsequent generation. Adverse perinatal circumstances accounted for only a small portion of this increased risk.
C1 [Roberts, Andrea L.] Harvard Univ, Sch Publ Hlth, Dept Social & Behav Sci, Boston, MA 02115 USA.
[Roberts, Andrea L.; Lyall, Kristen; Ascherio, Alberto; Weisskopf, Marc G.] Harvard Univ, Sch Publ Hlth, Boston, MA 02115 USA.
[Rich-Edwards, Janet W.] Brigham & Womens Hosp, Connors Ctr Womens Hlth & Gender Biol, Boston, MA 02115 USA.
[Lyall, Kristen] Univ Calif Davis, Med Invest Neurodev Disorders MIND Inst, Sacramento, CA 95817 USA.
RP Roberts, AL (reprint author), Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Kresge Bldg,677 Huntington Ave, Boston, MA 02115 USA.
EM aroberts@hsph.harvard.edu
FU Department of Defense [W81XWH-08-1-0499]; US Army Medical Research and
Materiel Command [A-14917]; National Institutes of Health
[5-T32MH073124-08, CA50385]
FX This study was funded by grant W81XWH-08-1-0499 from the Department of
Defense, by grant A-14917 from the US Army Medical Research and Materiel
Command (Drs Ascherio and Weisskopf), and by grant 5-T32MH073124-08 from
the National Institutes of Health (Dr Lyall). The Nurses' Health Study
II is funded in part by grant CA50385 from the National Institutes of
Health.
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NR 97
TC 10
Z9 10
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 515 N STATE ST, CHICAGO, IL 60654-0946 USA
SN 2168-622X
J9 JAMA PSYCHIAT
JI JAMA Psychiatry
PD MAY
PY 2013
VL 70
IS 5
BP 508
EP 515
DI 10.1001/jamapsychiatry.2013.447
PG 8
WC Psychiatry
SC Psychiatry
GA 188PF
UT WOS:000322204200007
PM 23553149
ER
PT J
AU Frans, EM
Sandin, S
Reichenberg, A
Langstrom, N
Lichtenstein, P
McGrath, JJ
Hultman, CM
AF Frans, Emma M.
Sandin, Sven
Reichenberg, Abraham
Langstrom, Niklas
Lichtenstein, Paul
McGrath, John J.
Hultman, Christina M.
TI Autism Risk Across Generations A Population-Based Study of Advancing
Grandpaternal and Paternal Age
SO JAMA PSYCHIATRY
LA English
DT Article
ID DE-NOVO MUTATIONS; PERVASIVE DEVELOPMENTAL DISORDERS; COPY-NUMBER
VARIATION; SPECTRUM DISORDERS; PARENTAL AGE; SCHIZOPHRENIA; SPERM;
EPIDEMIOLOGY; PATTERNS; DISEASE
AB Importance: Advancing paternal age has been linked to autism.
Objective: To further expand knowledge about the association between paternal age and autism by studying the effect of grandfathers' age on childhood autism.
Design: Population-based, multigenerational, case-control study.
Setting: Nationwide multigeneration and patient registers in Sweden.
Participants: We conducted a study of individuals born in Sweden since 1932. Parental age at birth was obtained for more than 90% of the cohort. Grandparental age at the time of birth of the parent was obtained for a smaller subset (5936 cases and 30 923 controls).
Main Outcome and Measure: International Classification of Diseases diagnosis of childhood autism in the patient registry.
Results: A statistically significant monotonic association was found between advancing grandpaternal age at the time of birth of the parent and risk of autism in grandchildren. Men who had fathered a daughter when they were 50 years or older were 1.79 times (95% CI, 1.35-2.37; P<.001) more likely to have a grandchild with autism, and men who had fathered a son when they were 50 years or older were 1.67 times (95% CI, 1.35-2.37; P<.001) more likely to have a grandchild with autism, compared with men who had fathered children when they were 20 to 24 years old, after controlling for birth year and sex of the child, age of the spouse, family history of psychiatric disorders, highest family educational level, and residential county. A statistically significant monotonic association was also found between advancing paternal age and risk of autism in the offspring. Sensitivity analyses indicated that these findings were not the result of bias due to missing data on grandparental age.
Conclusions and Relevance: Advanced grandparental age was associated with increased risk of autism, suggesting that risk of autism could develop over generations. The results are consistent with mutations and/or epigenetic alterations associated with advancing paternal age.
C1 [Frans, Emma M.; Sandin, Sven; Langstrom, Niklas; Lichtenstein, Paul; Hultman, Christina M.] Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17177 Stockholm, Sweden.
[Langstrom, Niklas] Karolinska Inst, Ctr Violence Prevent, SE-17177 Stockholm, Sweden.
[Sandin, Sven; Reichenberg, Abraham] Kings Coll London, Kings Hlth Partners, Inst Psychiat, Dept Psychosis Studies, London WC2R 2LS, England.
[Reichenberg, Abraham] Mt Sinai Sch Med, Dept Psychiat, New York, NY USA.
[McGrath, John J.] Pk Ctr Mental Hlth, Queensland Ctr Mental Hlth Res, Richlands, Australia.
[McGrath, John J.] Univ Queensland, Dept Psychiat, St Lucia, Qld, Australia.
[McGrath, John J.] Univ Queensland, Queensland Brain Inst, St Lucia, Qld, Australia.
RP Frans, EM (reprint author), Karolinska Inst, Dept Med Epidemiol & Biostat, POB 281, SE-17177 Stockholm, Sweden.
EM Emma.Frans@ki.se
RI McGrath, John/G-5493-2010
OI McGrath, John/0000-0002-4792-6068
FU Swedish Research Council; Swedish Council for Working Life and Social
Research; Karolinska Institutet
FX This study was supported by the Swedish Research Council (Dr Hultman),
the Swedish Council for Working Life and Social Research (guest research
fellowship to Dr Reichenberg), and the Karolinska Institutet.
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NR 47
TC 13
Z9 13
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 515 N STATE ST, CHICAGO, IL 60654-0946 USA
SN 2168-622X
J9 JAMA PSYCHIAT
JI JAMA Psychiatry
PD MAY
PY 2013
VL 70
IS 5
BP 516
EP 521
DI 10.1001/jamapsychiatry.2013.1180
PG 6
WC Psychiatry
SC Psychiatry
GA 188PF
UT WOS:000322204200008
PM 23553111
ER
PT J
AU Dragovic, M
Milenkovic, S
Kocijancic, D
Sram, Z
AF Dragovic, Milan
Milenkovic, Sanja
Kocijancic, Dusica
Sram, Zlatko
TI Etiological Aspect of Left-Handedness in Adolescents
SO SRPSKI ARHIV ZA CELOKUPNO LEKARSTVO
LA English
DT Article
DE left-handedness; adolescents; risk factors; Apgar score; maternal
smoking during pregnancy
ID HAND PREFERENCE; BIRTH; PREGNANCY; AGE; CHILDREN; AUTISM; STRESS; RISK
AB Introduction Lateralization of brain functions such as language and manual dominance (hand preferences and fine motor control) are most likely under genetic control. However, this does not preclude the effect of various environmental factors on functional brain lateralization. A strong association of non-right-handedness (left- and mixed-handedness) with various neurodevelopmental conditions (e.g. schizophrenia, autism, Rett syndrome) implies that in some cases, non-right-handedness may be acquired rather than inherited (i.e., pathologically determined).
Objective The aim of the study was: (a) re-investigation of several known risk factors for left-handedness (age of mother and/or father, twin pregnancies, and birth order), and (b) examination of hitherto un-investigated factors (type of birth, Apgar score, maternal smoking during pregnancy).
Methods Putative, causative environmental agents for this shift in manual distributions are explored in a sample of 1031 high school students (404 males and 627 females) from Belgrade. Both pre-existing (age of parents, twin pregnancy, and birth order) and new (Apgar score, maternal smoking, type of birth) putative agents are examined.
Results We found that maternal smoking and low Apgar score (2-6) can significantly increase risk for left-handedness (p=0.046 and p=0.042, respectively).The remaining factors showed no significant association with left-handedness in adolescents.
Conclusion Our study clearly demonstrates that left-handedness may be related to maternal smoking during pregnancy and a low Apgar score on birth.
C1 [Dragovic, Milan] Graylands Hosp, North Metropolitan Area Hlth Serv Mental Hlth, Clin Res Ctr, Perth, WA, Australia.
[Dragovic, Milan] Univ Western Australia, Sch Psychiat & Clin Neurosci, Ctr Clin Res Neuropsychiat, Perth, WA 6009, Australia.
[Milenkovic, Sanja] Univ Belgrade, Sch Med, Inst Hyg & Med Ecol, Belgrade, Serbia.
[Kocijancic, Dusica] Clin Ctr Serbia, Clin Gynecol & Obstet, Belgrade, Serbia.
[Sram, Zlatko] Inst Migrat & Ethn Studies, Zagreb, Croatia.
RP Milenkovic, S (reprint author), Sch Med, Inst Hyg & Med Ecol, Dr Subotica 8, Belgrade 11000, Serbia.
EM sanjavecko@yahoo.com
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NR 33
TC 0
Z9 0
PU SRPSKO LEKARSKO DRUSTVO
PI BEOGRAD
PA UREDNISTVO CASOPISA SRPSKI ARHIV, UL DZORDZA VASINGTONA 19, BEOGRAD,
11000, SERBIA
SN 0370-8179
J9 SRP ARK CELOK LEK
JI Srp. Ark. Celok. Lek.
PD MAY-JUN
PY 2013
VL 141
IS 5-6
BP 354
EP 358
DI 10.2298/SARH1306354D
PG 5
WC Medicine, General & Internal
SC General & Internal Medicine
GA 176OQ
UT WOS:000321314400012
PM 23858807
ER
PT J
AU Chin, E
Dorflinger, J
Davis, A
AF Chin, E.
Dorflinger, J.
Davis, A.
TI Cognitive Predictors for Outcome in Individuals With Autism Spectrum
Disorders
SO CLINICAL NEUROPSYCHOLOGIST
LA English
DT Meeting Abstract
NR 0
TC 0
Z9 0
PU TAYLOR & FRANCIS INC
PI PHILADELPHIA
PA 325 CHESTNUT ST, SUITE 800, PHILADELPHIA, PA 19106 USA
SN 1385-4046
J9 CLIN NEUROPSYCHOL
JI Clin. Neuropsychol.
PD MAY 1
PY 2013
VL 27
IS 4
BP 617
EP 617
PG 1
WC Psychology, Clinical; Clinical Neurology; Psychology
SC Psychology; Neurosciences & Neurology
GA 163TZ
UT WOS:000320361100171
ER
PT J
AU Granader, YE
Hardy, KK
Yerys, BE
Wallace, GL
Lawson, RA
Rosenthal, M
Kenworthy, L
AF Granader, Y. E.
Hardy, K. K.
Yerys, B. E.
Wallace, G. L.
Lawson, R. A.
Rosenthal, M.
Kenworthy, L.
TI The Pervasiveness of Cognitive Flexibility in Children With Autism
Spectrum Disorders Relative to Patterns of Executive Dysfunction on the
Behavior Rating Inventory of Executive Function
SO CLINICAL NEUROPSYCHOLOGIST
LA English
DT Meeting Abstract
NR 0
TC 0
Z9 0
PU TAYLOR & FRANCIS INC
PI PHILADELPHIA
PA 325 CHESTNUT ST, SUITE 800, PHILADELPHIA, PA 19106 USA
SN 1385-4046
J9 CLIN NEUROPSYCHOL
JI Clin. Neuropsychol.
PD MAY 1
PY 2013
VL 27
IS 4
BP 620
EP 621
PG 2
WC Psychology, Clinical; Clinical Neurology; Psychology
SC Psychology; Neurosciences & Neurology
GA 163TZ
UT WOS:000320361100179
ER
PT J
AU Rau, S
Wallace, GL
Anthony, LG
Sharber, AC
Orionzi, BA
Warsof, BD
Kenworthy, LE
AF Rau, S.
Wallace, G. L.
Anthony, L. G.
Sharber, A. C.
Orionzi, B. A.
Warsof, B. D.
Kenworthy, L. E.
TI Social-Communication Subtypes in Higher Functioning Autism Spectrum
Disorders: An Examination Using Factor Analysis
SO CLINICAL NEUROPSYCHOLOGIST
LA English
DT Meeting Abstract
NR 0
TC 0
Z9 0
PU TAYLOR & FRANCIS INC
PI PHILADELPHIA
PA 325 CHESTNUT ST, SUITE 800, PHILADELPHIA, PA 19106 USA
SN 1385-4046
J9 CLIN NEUROPSYCHOL
JI Clin. Neuropsychol.
PD MAY 1
PY 2013
VL 27
IS 4
BP 637
EP 637
PG 1
WC Psychology, Clinical; Clinical Neurology; Psychology
SC Psychology; Neurosciences & Neurology
GA 163TZ
UT WOS:000320361100213
ER
PT J
AU Stevens, SJ
Van Hecke, A
Ryan, M
Audrey, C
Jeffrey, K
Kirsten, S
Bridget, D
AF Stevens, S. J.
Van Hecke, A.
Ryan, M.
Audrey, C.
Jeffrey, K.
Kirsten, S.
Bridget, D.
TI Condition-Dependent Neural Responses in Adolescents With Autism Spectrum
Disorders Suggest Modified Continuous EEG Protocols in Autism
Experiments Investigating Social Behavior
SO CLINICAL NEUROPSYCHOLOGIST
LA English
DT Meeting Abstract
NR 0
TC 0
Z9 0
PU TAYLOR & FRANCIS INC
PI PHILADELPHIA
PA 325 CHESTNUT ST, SUITE 800, PHILADELPHIA, PA 19106 USA
SN 1385-4046
J9 CLIN NEUROPSYCHOL
JI Clin. Neuropsychol.
PD MAY 1
PY 2013
VL 27
IS 4
BP 641
EP 641
PG 1
WC Psychology, Clinical; Clinical Neurology; Psychology
SC Psychology; Neurosciences & Neurology
GA 163TZ
UT WOS:000320361100222
ER
PT J
AU Suh, J
Eigsti, I
Naigles, L
Barton, M
Kelley, E
Fein, DA
AF Suh, J.
Eigsti, I
Naigles, L.
Barton, M.
Kelley, E.
Fein, D. A.
TI Narrative Competence and Pragmatic Language Abilities of Optimal Outcome
Children With a History of Autism Spectrum Disorders as Evaluated by
Peer Ratings
SO CLINICAL NEUROPSYCHOLOGIST
LA English
DT Meeting Abstract
NR 0
TC 0
Z9 0
PU TAYLOR & FRANCIS INC
PI PHILADELPHIA
PA 325 CHESTNUT ST, SUITE 800, PHILADELPHIA, PA 19106 USA
SN 1385-4046
J9 CLIN NEUROPSYCHOL
JI Clin. Neuropsychol.
PD MAY 1
PY 2013
VL 27
IS 4
BP 642
EP 642
PG 1
WC Psychology, Clinical; Clinical Neurology; Psychology
SC Psychology; Neurosciences & Neurology
GA 163TZ
UT WOS:000320361100224
ER
PT J
AU Georgi, B
Voight, BF
Bucan, M
AF Georgi, Benjamin
Voight, Benjamin F.
Bucan, Maja
TI From Mouse to Human: Evolutionary Genomics Analysis of Human Orthologs
of Essential Genes
SO PLOS GENETICS
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; DE-NOVO MUTATIONS; VARIANTS; TRANSCRIPTOMES;
PATTERNS; SELECTION; DATABASE; RATES
AB Understanding the core set of genes that are necessary for basic developmental functions is one of the central goals in biology. Studies in model organisms identified a significant fraction of essential genes through the analysis of null-mutations that lead to lethality. Recent large-scale next-generation sequencing efforts have provided unprecedented data on genetic variation in human. However, evolutionary and genomic characteristics of human essential genes have never been directly studied on a genome-wide scale. Here we use detailed phenotypic resources available for the mouse and deep genomics sequencing data from human populations to characterize patterns of genetic variation and mutational burden in a set of 2,472 human orthologs of known essential genes in the mouse. Consistent with the action of strong, purifying selection, these genes exhibit comparatively reduced levels of sequence variation, skew in allele frequency towards more rare, and exhibit increased conservation across the primate and rodent lineages relative to the remainder of genes in the genome. In individual genomes we observed similar to 12 rare mutations within essential genes predicted to be damaging. Consistent with the hypothesis that mutations in essential genes are risk factors for neurodevelopmental disease, we show that de novo variants in patients with Autism Spectrum Disorder are more likely to occur in this collection of genes. While incomplete, our set of human orthologs shows characteristics fully consistent with essential function in human and thus provides a resource to inform and facilitate interpretation of sequence data in studies of human disease.
C1 [Georgi, Benjamin; Voight, Benjamin F.; Bucan, Maja] Univ Penn, Dept Genet, Perelman Sch Med, Philadelphia, PA 19104 USA.
[Voight, Benjamin F.] Univ Penn, Dept Pharmacol, Perelman Sch Med, Philadelphia, PA 19104 USA.
RP Georgi, B (reprint author), Univ Penn, Dept Genet, Perelman Sch Med, Philadelphia, PA 19104 USA.
EM bvoight@upenn.edu; bucan@mail.med.upenn.edu
FU CHOP/Upenn Autsim Center of Excellence, Pennsylvania Commonwealth grant
(PI Schultz); NIH/NIMH R01 grant [R01MH093415]; German Research
Foundation (DFG); Alfred P. Sloan Foundation
FX This work was supported by the CHOP/Upenn Autsim Center of Excellence,
Pennsylvania Commonwealth grant (PI Schultz), and NIH/NIMH R01 grant
R01MH093415 (to MB and Steven M. Paul, multiple PIs). BG was supported
by a fellowship from the German Research Foundation (DFG). BFV was
supported by a fellowship from the Alfred P. Sloan Foundation. The
funders had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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NR 46
TC 13
Z9 2462
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1553-7404
J9 PLOS GENET
JI PLoS Genet.
PD MAY
PY 2013
VL 9
IS 5
DI 10.1371/journal.pgen.1003484
PG 10
WC Genetics & Heredity
SC Genetics & Heredity
GA 159FH
UT WOS:000320030000009
PM 23675308
ER
PT J
AU Bakermans-Kranenburg, MJ
van IJzendoorn, MH
AF Bakermans-Kranenburg, M. J.
van IJzendoorn, M. H.
TI Sniffing around oxytocin: review and meta-analyses of trials in healthy
and clinical groups with implications for pharmacotherapy
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Review
DE autism spectrum disorder; childhood experiences; meta-analysis; oxytocin
treatment; psychiatric disorder; randomized controlled trial
ID SOCIAL ANXIETY DISORDER; POSTTRAUMATIC-STRESS-DISORDER;
OBSESSIVE-COMPULSIVE DISORDER; RANDOMIZED CONTROLLED-TRIAL;
HIGH-FUNCTIONING AUTISM; PRADER-WILLI-SYNDROME; INTRANASAL OXYTOCIN;
ADULT ATTACHMENT; PUBLICATION BIAS; INTERGROUP CONFLICT
AB The popularity of oxytocin (OT) has grown exponentially during the past decade, and so has the number of OT trials in healthy and clinical groups. We take stock of the evidence from these studies to explore potentials and limitations of pharmacotherapeutic applications. In healthy participants, intranasally administered OT leads to better emotion recognition and more trust in conspecifics, but the effects appear to be moderated by context (perceived threat of the 'out-group'), personality and childhood experiences. In individuals with untoward childhood experiences, positive behavioral or neurobiological effects seem lowered or absent. In 19 clinical trials, covering autism, social anxiety, postnatal depression, obsessive-compulsive problems, schizophrenia, borderline personality disorder and post-traumatic stress, the effects of OT administration were tested, with doses ranging from 15 IU to more than 7000 IU. The combined effect size was d=0.32 (N=304; 95% confidence interval (CI): 0.18-0.47; P<0.01). However, of all disorders, only studies on autism spectrum disorder showed a significant combined effect size (d=0.57; N=68; 95% CI: 0.15-0.99; P<0.01). We hypothesize that for some of the other disorders, etiological factors rooted in negative childhood experiences may also have a role in the diminished effectiveness of treatment with OT.
C1 [Bakermans-Kranenburg, M. J.; van IJzendoorn, M. H.] Leiden Univ, Ctr Child & Family Studies, Rommert Casimir Inst Dev Psychopathol, NL-2300 RB Leiden, Netherlands.
RP Bakermans-Kranenburg, MJ (reprint author), Leiden Univ, Ctr Child & Family Studies, Rommert Casimir Inst Dev Psychopathol, POB 9555, NL-2300 RB Leiden, Netherlands.
EM bakermans@fsw.leidenuniv.nl; vanijzen@fsw.leidenuniv.nl
FU Netherlands Organization for Scientific Research (NWO)
FX We were supported by awards from the Netherlands Organization for
Scientific Research (NWO) (MJBK: VICI Grant; MHvIJ: SPINOZA prize).
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NR 135
TC 48
Z9 48
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 MAY
PY 2013
VL 3
AR e258
DI 10.1038/tp.2013.34
PG 14
WC Psychiatry
SC Psychiatry
GA 174VJ
UT WOS:000321184400004
PM 23695233
ER
PT J
AU Vardarajan, BN
Eran, A
Jung, JY
Kunkel, LM
Wall, DP
AF Vardarajan, B. N.
Eran, A.
Jung, J-Y
Kunkel, L. M.
Wall, D. P.
TI Haplotype structure enables prioritization of common markers and
candidate genes in autism spectrum disorder
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
DE AGRE; autism genetics; autism spectrum disorders; bibliome mining
ID DE-NOVO MUTATIONS; GENOME-WIDE; SUSCEPTIBILITY GENE; CHROMOSOME 7Q;
COMPULSIVE BEHAVIORS; LINKAGE; ASSOCIATION; LOCUS; RISK; REVEALS
AB Autism spectrum disorder (ASD) is a neurodevelopmental condition that results in behavioral, social and communication impairments. ASD has a substantial genetic component, with 88-95% trait concordance among monozygotic twins. Efforts to elucidate the causes of ASD have uncovered hundreds of susceptibility loci and candidate genes. However, owing to its polygenic nature and clinical heterogeneity, only a few of these markers represent clear targets for further analyses. In the present study, we used the linkage structure associated with published genetic markers of ASD to simultaneously improve candidate gene detection while providing a means of prioritizing markers of common genetic variation in ASD. We first mined the literature for linkage and association studies of single-nucleotide polymorphisms, copy-number variations and multi-allelic markers in Autism Genetic Resource Exchange (AGRE) families. From markers that reached genome-wide significance, we calculated male-specific genetic distances, in light of the observed strong male bias in ASD. Four of 67 autism-implicated regions, 3p26.1, 3p26.3, 3q25-27 and 5p15, were enriched with differentially expressed genes in blood and brain from individuals with ASD. Of 30 genes differentially expressed across multiple expression data sets, 21 were within 10 cM of an autism-implicated locus. Among them, CNTN4, CADPS2, SUMF1, SLC9A9, NTRK3 have been previously implicated in autism, whereas others have been implicated in neurological disorders comorbid with ASD. This work leverages the rich multimodal genomic information collected on AGRE families to present an efficient integrative strategy for prioritizing autism candidates and improving our understanding of the relationships among the vast collection of past genetic studies.
C1 [Vardarajan, B. N.; Jung, J-Y; Wall, D. P.] Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA 02116 USA.
[Vardarajan, B. N.] Columbia Univ, Gertrude H Sergievsky Ctr, New York, NY 10027 USA.
[Eran, A.] Harvard MIT Hlth Sci & Technol, Cambridge, MA USA.
[Eran, A.; Kunkel, L. M.] Boston Childrens Hosp, Div Genet, Program Genom, Boston, MA USA.
RP Wall, DP (reprint author), Harvard Univ, Sch Med, Ctr Biomed Informat, 10 Shattuck St, Boston, MA 02116 USA.
EM dpwall@hms.harvard.edu
FU National Institute of Health [1R01MH085143-01, 1R01MH090611-01A1]
FX We would like to thank Autism Speaks, AGRE, and participating families
for making the data for this research available. We thank Wall lab
members and Professors Isaac Kohane, Marco Ramoni and Peter Tonellato
for engaging discussions related to the project. This work was supported
by the National Institute of Health Grants 1R01MH085143-01 and
1R01MH090611-01A1 awared to DPW.
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NR 70
TC 2
Z9 2
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD MAY
PY 2013
VL 3
AR e262
DI 10.1038/tp.2013.38
PG 9
WC Psychiatry
SC Psychiatry
GA 174VJ
UT WOS:000321184400008
PM 23715297
ER
PT J
AU Sung, M
Ooi, YP
Law, GC
Goh, TJ
Weng, SJ
Sriram, B
AF Sung, Min
Ooi, Yoon Phaik
Law, Gloria C.
Goh, Tze Jui
Weng, Shih Jen
Sriram, Bhavani
TI Features of Autism in a Singaporean Child with Down Syndrome
SO ANNALS ACADEMY OF MEDICINE SINGAPORE
LA English
DT Letter
ID SPECTRUM DISORDERS
C1 [Sung, Min; Ooi, Yoon Phaik; Goh, Tze Jui; Weng, Shih Jen] Inst Mental Hlth, Dept Child & Adolescent Psychiat, Buangkok, Singapore.
[Sung, Min; Ooi, Yoon Phaik; Weng, Shih Jen] Duke NUS Grad Med Sch Singapore, Singapore, Singapore.
[Ooi, Yoon Phaik] Univ Basel, Dept Psychol, CH-4003 Basel, Switzerland.
[Law, Gloria C.] Nanyang Technol Univ, Natl Inst Educ, Singapore, Singapore.
[Sriram, Bhavani] KK Womens & Childrens Hosp, Singapore, Singapore.
RP Sung, M (reprint author), Child Guidance Clin, 3 2nd Hosp Ave,03-01 Hlth Promot Board Bldg, Singapore 168937, Singapore.
EM Min_Sung@imh.com.sg
RI Ooi, Yoon Phaik/D-3944-2015
CR Aman M., 1986, ABERRANT BEHAV CHECK
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NR 12
TC 0
Z9 0
PU ACAD MEDICINE SINGAPORE
PI REPUBLIC SINGAPORE
PA 142 NEIL RD, REPUBLIC SINGAPORE 088871, SINGAPORE
SN 0304-4602
J9 ANN ACAD MED SINGAP
JI Ann. Acad. Med. Singap.
PD MAY
PY 2013
VL 42
IS 5
BP 251
EP 252
PG 2
WC Medicine, General & Internal
SC General & Internal Medicine
GA 165JZ
UT WOS:000320481500008
PM 23771114
ER
PT J
AU Sweatt, JD
AF Sweatt, J. David
TI Pitt-Hopkins Syndrome: intellectual disability due to loss of
TCF4-regulated gene transcription
SO EXPERIMENTAL AND MOLECULAR MEDICINE
LA English
DT Review
DE autism; epigenetics; learning; language cognition; memory; Pitt-Hopkins
Syndrome; TCF4
ID LOOP-HELIX PROTEINS; MENTAL-RETARDATION; RETT-SYNDROME; TCF4 GENE;
BREATHING ABNORMALITIES; LYMPHOCYTE DEVELOPMENT; SYNAPTIC PLASTICITY;
MISSENSE MUTATIONS; CLINICAL SCORE; GENOME-WIDE
AB TCF4 (transcription factor 4; E2-2, ITF2) is a transcription factor that when haplo-insufficient causes Pitt-Hopkins Syndrome (PTHS), an autism-spectrum disorder that is associated with pervasive developmental delay and severe intellectual disability. The TCF4 gene is also a risk factor with highly significant linkage to schizophrenia, presumably via overexpression of the TCF4 gene product in the central nervous system. This review will present an overview of the clinical manifestations of PTHS and relate those clinical attributes to the underlying molecular genetics of TCF4. In order to provide a molecular biological context for the loss of function of TCF4 in PTHS, the review will also present a brief overview of the basic biochemistry of TCF4-mediated regulation of cellular and neuronal gene expression. In the final section of this review, I will discuss and speculate upon possible roles for the TCF4 transcription factor in neuronal function and comment upon how understanding these roles may give new insights into the molecular neurobiology of human cognition.
C1 [Sweatt, J. David] Univ Alabama Birmingham, Dept Neurobiol, Civitan Int Res Ctr, Birmingham, AL 35294 USA.
[Sweatt, J. David] Univ Alabama Birmingham, Evelyn F McKnight Brain Inst, Civitan Int Res Ctr, Birmingham, AL 35294 USA.
RP Sweatt, JD (reprint author), Univ Alabama Birmingham, Dept Neurobiol, Civitan Int Res Ctr, 1825 Univ Blvd,SHEL 1010, Birmingham, AL 35294 USA.
EM dsweatt@uab.edu
FU PTHS Foundation; Simons Foundation; NIMH Grant [MH 57014]; Civitan
International; Evelyn F. McKnight Brain Research Foundation
FX I thank Andrew Kennedy, Audrey Davidow, Theresa Pauca, Sue Routledge and
the entire PTHS support group for innumerable helpful discussions. The
work in the author's lab is supported by the PTHS Foundation, the Simons
Foundation, NIMH Grant MH 57014, Civitan International and Evelyn F.
McKnight Brain Research Foundation.
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NR 70
TC 6
Z9 6
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1226-3613
J9 EXP MOL MED
JI Exp. Mol. Med.
PD MAY
PY 2013
VL 45
AR e21
DI 10.1038/emm.2013.32
PG 15
WC Biochemistry & Molecular Biology; Medicine, Research & Experimental
SC Biochemistry & Molecular Biology; Research & Experimental Medicine
GA 174VR
UT WOS:000321185200001
PM 23640545
ER
PT J
AU Stodgell, CJ
Bennetto, L
Hyman, SL
AF Stodgell, Christopher J.
Bennetto, L.
Hyman, S. L.
TI Teratology of autism: From animal models to endophenotypes
SO NEUROTOXICOLOGY AND TERATOLOGY
LA English
DT Meeting Abstract
CT 37th Annual Meeting of the Neurobehavioral-Teratology-Society Held in
Conjunction with the 53rd Annual Meeting of the Teratology-Society /
26th Annual Meeting of the
Organization-of-Teratology-Information-Specialists
CY JUN 22-26, 2013
CL Tucson, AZ
SP Neurobehavioral Teratol Soc, Teratol Soc, Org Teratol Informat Specialists
C1 [Stodgell, Christopher J.] Univ Rochester, Sch Med, OB GYN, Rochester, NY USA.
[Bennetto, L.] Univ Rochester, Rochester, NY USA.
[Hyman, S. L.] Univ Rochester, Sch Med, Rochester, NY USA.
NR 0
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0892-0362
J9 NEUROTOXICOL TERATOL
JI Neurotoxicol. Teratol.
PD MAY-JUN
PY 2013
VL 37
BP 78
EP 79
DI 10.1016/j.ntt.2013.03.021
PG 2
WC Neurosciences; Toxicology
SC Neurosciences & Neurology; Toxicology
GA 164SD
UT WOS:000320428900027
ER
PT J
AU Miller, MT
Ventura, L
Stomland, K
AF Miller, Marilyn T.
Ventura, Liana
Stomland, Kerstin
TI Thalidomide, Moebius Sequence and misoprostol: Pieces of the autism
puzzle
SO NEUROTOXICOLOGY AND TERATOLOGY
LA English
DT Meeting Abstract
CT 37th Annual Meeting of the Neurobehavioral-Teratology-Society Held in
Conjunction with the 53rd Annual Meeting of the Teratology-Society /
26th Annual Meeting of the
Organization-of-Teratology-Information-Specialists
CY JUN 22-26, 2013
CL Tucson, AZ
SP Neurobehavioral Teratol Soc, Teratol Soc, Org Teratol Informat Specialists
C1 [Miller, Marilyn T.] U Illinois Eye & Ear Infirm, Chicago, IL USA.
[Ventura, Liana] Altino Ventura Fdn, Recife, PE, Brazil.
[Stomland, Kerstin] Gothenburg Univ, Inst Neurosci & Physiol, Gothenburg, Sweden.
NR 0
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0892-0362
J9 NEUROTOXICOL TERATOL
JI Neurotoxicol. Teratol.
PD MAY-JUN
PY 2013
VL 37
BP 79
EP 79
DI 10.1016/j.ntt.2013.03.022
PG 1
WC Neurosciences; Toxicology
SC Neurosciences & Neurology; Toxicology
GA 164SD
UT WOS:000320428900028
ER
PT J
AU Wenger, TL
Kao, C
Deardorff, MA
McDonald-McGinn, D
Zackai, EH
Emanuel, BS
Schultz, RT
Hakonarson, H
AF Wenger, Tara L.
Kao, C.
Deardorff, M. A.
McDonald-McGinn, D.
Zackai, E. H.
Emanuel, B. S.
Schultz, R. T.
Hakonarson, H.
TI Syndromes and the study of autism
SO NEUROTOXICOLOGY AND TERATOLOGY
LA English
DT Meeting Abstract
CT 37th Annual Meeting of the Neurobehavioral-Teratology-Society Held in
Conjunction with the 53rd Annual Meeting of the Teratology-Society /
26th Annual Meeting of the
Organization-of-Teratology-Information-Specialists
CY JUN 22-26, 2013
CL Tucson, AZ
SP Neurobehavioral Teratol Soc, Teratol Soc, Org Teratol Informat Specialists
C1 [Wenger, Tara L.; Deardorff, M. A.; McDonald-McGinn, D.; Zackai, E. H.; Emanuel, B. S.] Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA.
[Kao, C.; Hakonarson, H.] Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA.
[Wenger, Tara L.; Schultz, R. T.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA.
NR 0
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0892-0362
J9 NEUROTOXICOL TERATOL
JI Neurotoxicol. Teratol.
PD MAY-JUN
PY 2013
VL 37
BP 79
EP 79
DI 10.1016/j.ntt.2013.03.023
PG 1
WC Neurosciences; Toxicology
SC Neurosciences & Neurology; Toxicology
GA 164SD
UT WOS:000320428900029
ER
PT J
AU Stodgell, CJ
Bennetto, L
Hyman, SL
AF Stodgell, C. J.
Bennetto, L.
Hyman, S. L.
TI Teratology of Autism: From Animal Models to Endophenotypes
SO BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
LA English
DT Meeting Abstract
C1 [Stodgell, C. J.] Univ Rochester, Sch Med, Dept Obstet & Gynecol, Rochester, NY USA.
[Bennetto, L.] Univ Rochester, Rochester, NY USA.
[Hyman, S. L.] Univ Rochester, Sch Med, Dept Pediat, Rochester, NY 14642 USA.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1542-0752
EI 1542-0760
J9 BIRTH DEFECTS RES A
JI Birth Defects Res. Part A-Clin. Mol. Teratol.
PD MAY
PY 2013
VL 97
IS 5
SI SI
BP 283
EP 283
PG 1
WC Developmental Biology; Toxicology
SC Developmental Biology; Toxicology
GA 171MB
UT WOS:000320932100027
ER
PT J
AU Miller, MT
Ventura, L
Stomland, K
AF Miller, M. T.
Ventura, L.
Stomland, K.
TI Thalidomide, Moebius Sequence, and Misoprostol: Pieces of the Autism
Puzzle
SO BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
LA English
DT Meeting Abstract
C1 [Miller, M. T.] Univ Illinois, Eye & Ear Infirm, Chicago, IL 60612 USA.
[Ventura, L.] Altino Ventura Fdn, Recife, PE, Brazil.
[Stomland, K.] Gothenburg Univ, Inst Neurosci & Physiol, Gothenburg, Sweden.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1542-0752
EI 1542-0760
J9 BIRTH DEFECTS RES A
JI Birth Defects Res. Part A-Clin. Mol. Teratol.
PD MAY
PY 2013
VL 97
IS 5
SI SI
BP 284
EP 284
PG 1
WC Developmental Biology; Toxicology
SC Developmental Biology; Toxicology
GA 171MB
UT WOS:000320932100028
ER
PT J
AU Wenger, TL
Kao, C
Deardorff, MA
Mcdonald-Mcgin, D
Zackai, EH
Emanuel, BS
Schultz, RT
Hakonarson, H
AF Wenger, T. L.
Kao, C.
Deardorff, M. A.
Mcdonald-Mcgin, D.
Zackai, E. H.
Emanuel, B. S.
Schultz, R. T.
Hakonarson, H.
TI Syndromes and the Study of Autism
SO BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
LA English
DT Meeting Abstract
C1 [Wenger, T. L.; Deardorff, M. A.; Mcdonald-Mcgin, D.; Zackai, E. H.; Emanuel, B. S.] Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA.
[Kao, C.; Hakonarson, H.] Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA.
[Wenger, T. L.; Schultz, R. T.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1542-0752
EI 1542-0760
J9 BIRTH DEFECTS RES A
JI Birth Defects Res. Part A-Clin. Mol. Teratol.
PD MAY
PY 2013
VL 97
IS 5
SI SI
BP 284
EP 284
PG 1
WC Developmental Biology; Toxicology
SC Developmental Biology; Toxicology
GA 171MB
UT WOS:000320932100029
ER
PT J
AU Grant, KS
Stone, W
Ibanez, L
Vredevoogd, M
Burbacher, TM
Faustman, EM
Newschaffer, C
Lampron, Z
Abdullah, M
Burkhom, D
Clarke, N
Durkin, M
Ferrell, C
Golden, A
Kuo, A
Lakes, K
Lambert, B
Landa, R
Landrigan, PJ
Messinger, D
Paterson, S
Wang, AT
Warren, Z
AF Grant, K. S.
Stone, W.
Ibanez, L.
Vredevoogd, M.
Burbacher, T. M.
Faustman, E. M.
Newschaffer, C.
Lampron, Z.
Abdullah, M.
Burkhom, D.
Clarke, N.
Durkin, M.
Ferrell, C.
Golden, A.
Kuo, A.
Lakes, K.
Lambert, B.
Landa, R.
Landrigan, P. J.
Messinger, D.
Paterson, S.
Wang, A. T.
Warren, Z.
TI Advancing Early Diagnosis of Autism Spectrum Disorder for the National
Children's Study
SO BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
LA English
DT Meeting Abstract
C1 [Grant, K. S.; Vredevoogd, M.; Burbacher, T. M.; Faustman, E. M.] Univ Washington, Dept Environm & Occupat Hlth Sci, Seattle, WA 98195 USA.
[Stone, W.; Ibanez, L.] Univ Washington, Dept Psychol, Seattle, WA 98195 USA.
[Newschaffer, C.; Lampron, Z.] Drexel Univ, AJ Drexel Autism Inst, Philadelphia, PA 19104 USA.
[Abdullah, M.; Lakes, K.] Univ Calif Irvine, Dept Pediat, Irvine, CA 92717 USA.
[Burkhom, D.; Clarke, N.] Battelle Mem Inst, Ctr Analyt & Publ Hlth, Baltimore, MD USA.
[Durkin, M.] Univ Wisconsin, Dept Populat Hlth Sci, Madison, WI USA.
[Durkin, M.] Univ Wisconsin, Dept Pediat, Madison, WI USA.
[Ferrell, C.; Landrigan, P. J.] Icahn Sch Med Mt Sinai, Dept Pediat, New York, NY USA.
[Golden, A.; Landrigan, P. J.] Icahn Sch Med Mt Sinai, Dept Prevent Med, New York, NY USA.
[Wang, A. T.] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY USA.
[Wang, A. T.] Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY USA.
[Kuo, A.] Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90095 USA.
[Kuo, A.] Univ Calif Los Angeles, David Geffen Sch Med, Dept Psychiat, Los Angeles, CA 90095 USA.
[Lambert, B.; Messinger, D.] Univ Miami, Dept Psychol, Coral Gables, FL 33124 USA.
[Messinger, D.] Univ Miami, Dept Pediat, Coral Gables, FL 33124 USA.
[Landa, R.] Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD USA.
[Paterson, S.] Univ Penn, Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA.
[Paterson, S.] Univ Penn, Dept Pediat, Philadelphia, PA 19104 USA.
[Warren, Z.] Vanderbilt Univ, Dept Pediat, Nashville, TN USA.
[Warren, Z.] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37235 USA.
RI Durkin, Maureen/B-7834-2015
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1542-0752
EI 1542-0760
J9 BIRTH DEFECTS RES A
JI Birth Defects Res. Part A-Clin. Mol. Teratol.
PD MAY
PY 2013
VL 97
IS 5
SI SI
BP 332
EP 333
PG 2
WC Developmental Biology; Toxicology
SC Developmental Biology; Toxicology
GA 171MB
UT WOS:000320932100116
ER
PT J
AU Salafia, CM
Dalton, JL
Misra, D
Stodgell, CJ
Katzman, PJ
Ruffolo, LI
Culhane, J
Wadlinger, S
Torres, C
Landrigan, P
Littman, L
Sheffield, P
Leuthner, S
Szabo, S
Thiex, N
Specker, B
Swanson, J
Dole, N
Thorp, J
Eucker, B
Clark, EB
Varner, MW
Taggart, E
Durkin, MS
Sandoval, MN
Moye, J
Miller, RK
AF Salafia, C. M.
Dalton, J. L.
Misra, D.
Stodgell, C. J.
Katzman, P. J.
Ruffolo, L., I
Culhane, J.
Wadlinger, S.
Torres, C.
Landrigan, P.
Littman, L.
Sheffield, P.
Leuthner, S.
Szabo, S.
Thiex, N.
Specker, B.
Swanson, J.
Dole, N.
Thorp, J.
Eucker, B.
Clark, E. B.
Varner, M. W.
Taggart, E.
Durkin, M. S.
Sandoval, M-N
Moye, J.
Miller, R. K.
CA Natl Children's Study Placental Re
TI The Chorionic Surface Vascular Network in Human Placenta: Quantifying
Structure to Estimate Gestational Stressors and Life Course Risks,
Autism Spectrum Disorder (ASD) As a Model for Future Analyses: National
Children's Study and EARLI
SO BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
LA English
DT Meeting Abstract
C1 [Salafia, C. M.; Dalton, J. L.; Misra, D.; Stodgell, C. J.; Katzman, P. J.; Ruffolo, L., I; Culhane, J.; Wadlinger, S.; Torres, C.; Landrigan, P.; Littman, L.; Sheffield, P.; Leuthner, S.; Szabo, S.; Thiex, N.; Specker, B.; Swanson, J.; Dole, N.; Thorp, J.; Eucker, B.; Clark, E. B.; Varner, M. W.; Taggart, E.; Durkin, M. S.; Sandoval, M-N; Moye, J.; Miller, R. K.; Natl Children's Study Placental Re] Natl Childrens Study Placenta Consortium, Bethesda, MD USA.
[Salafia, C. M.; Dalton, J. L.; Misra, D.] Placental Analyt Inc, Larchmont, NY USA.
[Stodgell, C. J.; Katzman, P. J.; Ruffolo, L., I; Miller, R. K.] Univ Rochester, Sch Med & Dent, Rochester, NY USA.
[Culhane, J.; Wadlinger, S.] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA.
[Torres, C.] Columbia Univ, New York, NY USA.
[Landrigan, P.; Littman, L.; Sheffield, P.] Icahn Sch Med Mt Sinai, New York, NY USA.
[Leuthner, S.; Szabo, S.] Med Coll Wisconsin, Milwaukee, WI 53226 USA.
[Thiex, N.; Specker, B.] S Dakota State Univ, Brookings, SD 57007 USA.
[Swanson, J.] Univ Calif Irvine, Irvine, CA USA.
[Dole, N.; Thorp, J.; Eucker, B.] Univ N Carolina, Chapel Hill, NC USA.
[Clark, E. B.; Varner, M. W.; Taggart, E.] Univ Utah, Salt Lake City, UT USA.
[Durkin, M. S.; Sandoval, M-N] Univ Wisconsin, Madison, WI USA.
[Moye, J.] NIH, Natl Childrens Study, Bethesda, MD 20892 USA.
RI Durkin, Maureen/B-7834-2015
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1542-0752
EI 1542-0760
J9 BIRTH DEFECTS RES A
JI Birth Defects Res. Part A-Clin. Mol. Teratol.
PD MAY
PY 2013
VL 97
IS 5
SI SI
BP 333
EP 333
PG 1
WC Developmental Biology; Toxicology
SC Developmental Biology; Toxicology
GA 171MB
UT WOS:000320932100117
ER
PT J
AU Jordan, B
AF Jordan, Bertrand
TI Non-random randomness
SO M S-MEDECINE SCIENCES
LA French
DT Article
ID MUTATION; AUTISM
AB Whole-genome sequencing of monozygotic twin pairs and of their parents brings new and surprising insights into the rate and distribution of de nova mutations.
C1 CoReBio PACA, F-13288 Marseille 9, France.
RP Jordan, B (reprint author), CoReBio PACA, Case 901,Parc Sci Luminy, F-13288 Marseille 9, France.
EM bertrand.jordan@univ-amu.fr
CR Emery AEH, 1983, PRINCIPLES PRACTICE
Jordan B., 2012, AUTISME GENE INTROUV
Michaelson JJ, 2012, CELL, V151, P1431, DOI 10.1016/j.cell.2012.11.019
Rosenberg SM, 2001, NAT REV GENET, V2, P504, DOI 10.1038/35080556
Sanders SJ, 2011, NEURON, V70, P863, DOI 10.1016/j.neuron.2011.05.002
NR 5
TC 0
Z9 0
PU EDP SCIENCES S A
PI LES ULIS CEDEX A
PA 17, AVE DU HOGGAR, PA COURTABOEUF, BP 112, F-91944 LES ULIS CEDEX A,
FRANCE
SN 0767-0974
J9 M S-MED SCI
JI M S-Med. Sci.
PD MAY
PY 2013
VL 29
IS 5
BP 545
EP 547
DI 10.1051/medsci/2013295020
PG 3
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA 163NW
UT WOS:000320345200020
PM 23732106
ER
PT J
AU Hoffmann, A
Martens, MA
Fox, R
Rabidoux, P
Andridge, R
AF Hoffmann, Anne
Martens, Marilee A.
Fox, Robert
Rabidoux, Paula
Andridge, Rebecca
TI Pragmatic Language Assessment in Williams Syndrome: A Comparison of the
Test of Pragmatic Language-2 and the Children's Communication
Checklist-2
SO AMERICAN JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
LA English
DT Article
DE pragmatics; assessment; Williams syndrome; developmental disabilities
ID AUTISM SPECTRUM DISORDERS; IMPAIRMENT; ABILITIES; DEFICITS
AB Purpose: Individuals with Williams syndrome (WS) are recognized as having a strong desire for social relationships, yet many of them have difficulty forming and maintaining peer relationships. One cause may be impairments in pragmatic language. The current study compared the assessment of pragmatic language skills in individuals with WS using the Test of Pragmatic Language-Second Edition (TOPL-2; Phelps-Terasaki & Phelps-Gunn, 2007) and the Children's Communication Checklist-Second Edition (CCC-2; Bishop, 2003).
Method: Twenty children and adolescents diagnosed with WS were given the TOPL-2, and their parents completed the CCC-2.
Results: The TOPL-2 identified 8 of the 14 older children (ages 8-16 years) as having pragmatic language impairment and all of the 6 younger children (ages 6-7 years) as having such. In comparison, the CCC-2 identified 6 of the 14 older children and 2 of the 6 younger children as having pragmatic language impairment. The older group also had a higher composite score than the younger group on the CCC-2.
Conclusion: The TOPL-2 identified significantly more participants as having pragmatic language impairment than did the CCC-2. The TOPL-2 may be more useful in assessing pragmatic language in older children than younger children. The results offer important preliminary clinical implications of language measures that may be beneficial in the assessment of individuals with WS.
C1 [Hoffmann, Anne; Martens, Marilee A.; Fox, Robert; Rabidoux, Paula; Andridge, Rebecca] Ohio State Univ, Columbus, OH 43210 USA.
RP Hoffmann, A (reprint author), Ohio State Univ, Columbus, OH 43210 USA.
EM hoffmann.255@osu.edu
RI Andridge, Rebecca/C-8457-2012
OI Andridge, Rebecca/0000-0001-9991-9647
CR Adams C, 2001, INT J LANG COMM DIS, V36, P289, DOI 10.1080/13682820119881
Berko-Gleason J, 2009, DEV LANGUAGE
Bishop D. V., 2006, CHILDRENS COMMUNICAT
Bishop D. V. M., 2003, CHILDRENS COMMUNICAT
Bishop DVM, 2009, INT J LANG COMM DIS, V44, P600, DOI 10.1080/13682820802259662
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NR 43
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1058-0360
J9 AM J SPEECH-LANG PAT
JI Am. J. Speech-Lang. Pathol.
PD MAY 1
PY 2013
VL 22
IS 2
BP 198
EP 204
DI 10.1044/1058-0360(2012/11-0131)
PG 7
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA 156LD
UT WOS:000319822600021
PM 23184135
ER
PT J
AU van Kamp, I
Davies, H
AF van Kamp, Irene
Davies, Hugh
TI Noise and health in vulnerable groups: A review
SO NOISE & HEALTH
LA English
DT Review
DE Adverse effects; health; noise; vulnerable groups
ID ROAD-TRAFFIC NOISE; INTENSIVE-CARE-UNIT; QUALITY-OF-LIFE; ENVIRONMENTAL
NOISE; AIRCRAFT NOISE; BLOOD-PRESSURE; CLASSROOM NOISE; SCHOOL-CHILDREN;
COMMUNITY NOISE; CORONARY-HEART
AB Vulnerable or susceptible groups are mentioned in most reviews and documents regarding noise and health. But only a few studies address this issue in a concrete and focused way. Groups at risk most often mentioned in the literature are children, the elderly, the chronically ill and people with a hearing impairment. The other categories encountered are those of sensitive persons, shiftworkers, people with mental illness (e.g., schizophrenia or autism), people suffering from tinnitus, and fetuses and neonates. The mechanism for this vulnerability has not been clearly described and relevant research has seldom focused on the health effects of noise in these groups in an integrated manner. This paper summarizes the outcomes and major conclusions of a systematic, qualitative review of studies over the past 5 years. This review was prepared for the 10 (th) Conference on Noise as a Public Health Problem (ICBEN, 2011). Evidence is reviewed describing effects, groups assumed to be at risk, and mechanisms pertaining to noise sensitivity and learned helplessness.
C1 [Davies, Hugh] Univ British Columbia, Sch Populat & Publ Hlth, Vancouver, BC V5Z 1M9, Canada.
RP van Kamp, I (reprint author), POB 1,Postvak 10, NL-3720 BA Bilthoven, Netherlands.
EM Irene.van.kamp@rivm.nl
CR Ana G, 2009, J ENV PUBLIC HLTH, V2009
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NR 76
TC 4
Z9 4
PU MEDKNOW PUBLICATIONS & MEDIA PVT LTD
PI MUMBAI
PA B-9, KANARA BUSINESS CENTRE, OFF LINK RD, GHAKTOPAR-E, MUMBAI, 400075,
INDIA
SN 1463-1741
J9 NOISE HEALTH
JI Noise Health
PD MAY-JUN
PY 2013
VL 15
IS 64
BP 153
EP 159
DI 10.4103/1463-1741.112361
PG 7
WC Audiology & Speech-Language Pathology; Public, Environmental &
Occupational Health
SC Audiology & Speech-Language Pathology; Public, Environmental &
Occupational Health
GA 159RH
UT WOS:000320063000001
PM 23689296
ER
PT J
AU Bateman, C
AF Bateman, Chris
TI Autism - mitigating a global epidemic
SO SAMJ SOUTH AFRICAN MEDICAL JOURNAL
LA English
DT News Item
EM chrisb@hmpg.co.za
CR Jepson B, 2007, CHANGING COURSE AUTI
McCandless J, 2009, CHILDREN STARVING BR
The Centre for Disease Control's National Center for Health Statistics, 2013, CHANG PREV PAR REP A, P65
NR 3
TC 1
Z9 2
PU SA MEDICAL ASSOC
PI PRETORIA
PA BLOCK F CASTLE WALK CORPORATE PARK, NOSSOB STREET, ERASMUSKLOOF EXT3,
PRETORIA, 0002, SOUTH AFRICA
SN 0256-9574
J9 SAMJ S AFR MED J
JI SAMJ S. Afr. Med. J.
PD MAY
PY 2013
VL 103
IS 5
BP 276
EP +
DI 10.7196/SAMJ.6915
PG 2
WC Medicine, General & Internal
SC General & Internal Medicine
GA 155CB
UT WOS:000319721900009
PM 23971108
ER
PT J
AU Ketterer, T
West, DW
Sanders, VP
Hossain, J
Kondo, MA
Sharif, I
AF Ketterer, Tara
West, David W.
Sanders, Victoria P.
Hossain, Jobayer
Kondo, Michelle A.
Sharif, Iman
TI Correlates of Patient Portal Enrollment and Activation in Primary Care
Pediatrics
SO ACADEMIC PEDIATRICS
LA English
DT Article
DE digital divide; disparities; electronic health records; Medicaid;
patient portal
ID HEALTH INFORMATION; DIGITAL DIVIDE; INTERNET USE; DISPARITIES;
PREFERENCES; SERVICES; CHILDREN; PARENTS
AB OBJECTIVE: To identify the demographic, practice site, and clinical predictors of patient portal enrollment and activation among a pediatric primary care population.
METHODS: We conducted a cross-sectional analysis of the primary care database of an academic children's hospital that introduced a patient portal in December 2007.
RESULTS: We analyzed data for 84,015 children. Over a 4-year period, 38% enrolled in the portal; of these, 26% activated the account. The adjusted odds of portal enrollment was lower for adolescents, Medicaid recipients, low-income families, Asian or other race, and Hispanic ethnicity, and higher for patients with more office encounters, and presence of autism on the problem list. Once enrolled, the odds of portal activation [adjusted odds ratio (95% confidence interval)] was decreased for: Medicaid [0.55 (0.50-0.61)1 and uninsured [0.79 (0.64-0.97)] (vs private insurance), black [0.53 (0.49-0.57)] and other [0.80 (0.71-0.91)] (vs white race), Hispanic ethnicity [0.77 (0.62-0.97)], and increased for: infant age [1.26 (1.15-1.37)] (vs school age), attendance at a resident continuity practice site [1.91 (1.23-2.97)], living further away from the practice (vs under 2 miles)[4.5-8.8 miles: 1.14 (1.02-1.29); more than 8.8 miles: 1.19 (1.07-1.33)], having more office encounters (vs 1-3) [4-7 encounters: 1.40 (1.24-1.59); 8-12 encounters: 1.58 (1.38-1.81); 13+ encounters: 2.09 (1.72-2.55)], and having 3 or more items on the problem list (vs 0) [1.19 (1.07-1.33)].
CONCLUSIONS: Sociodemographic disparities exist in patient portal enrollment/activation in primary care pediatrics. Attendance at a resident continuity practice site, living farther away from the practice, having more office encounters, and having more problem list items increased the odds of portal activation.
C1 [Ketterer, Tara; Hossain, Jobayer] Nemours Biomed Res, Wilmington, DE USA.
[West, David W.] Nemours Hlth Informat, Wilmington, DE USA.
[Sanders, Victoria P.] Nemours Childrens Clin Orlando, NHI Business & Ancillary Support, Orlando, FL USA.
[Kondo, Michelle A.] US Forest Serv, USDA, Philadelphia Field Stn, Philadelphia, PA USA.
[Kondo, Michelle A.] Univ Penn, Philadelphia, PA 19104 USA.
[Sharif, Iman] Alfred I DuPont Hosp Children, Dept Gen Pediat, Wilmington, DE 19803 USA.
[Sharif, Iman] Thomas Jefferson Univ, Jefferson Med Coll, Dept Pediat, Philadelphia, PA 19107 USA.
RP Sharif, I (reprint author), Alfred I DuPont Hosp Children, Div Gen Pediat, 1600 Rockland Rd, Wilmington, DE 19803 USA.
EM isharif@nemours.org
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University of Michigan Population Studies Center, ZIP COD CHAR MEAN ME
NR 23
TC 4
Z9 4
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1876-2859
J9 ACAD PEDIATR
JI Acad. Pediatr.
PD MAY-JUN
PY 2013
VL 13
IS 3
BP 264
EP 271
PG 8
WC Pediatrics
SC Pediatrics
GA 148MW
UT WOS:000319249700013
PM 23680344
ER
PT J
AU Dahdouh-Guermouche, A
Taleb, M
Courtet, P
Semaoune, B
Malafosse, A
AF Dahdouh-Guermouche, Aicha
Taleb, Mohammed
Courtet, Philippe
Semaoune, Boualem
Malafosse, Alain
TI Consanguinity, schizophrenia and bipolar disorder
SO ANNALES MEDICO-PSYCHOLOGIQUES
LA French
DT Article
DE Bipolar disorder; Consanguinity; Genetic; Inbreeding; Psychosis;
Schizophrenia
ID HUMAN-POPULATIONS; COUSIN MARRIAGE; HOMOZYGOSITY; DISEASES; RISK;
GENOME; RUNS; IDENTIFICATION; EXPERIENCE; EVOLUTION
AB Consanguinity is a relationship between two people who share a common ancestor. It is usually defined as resulting from sexual reproduction between two related individuals. In other words, consanguineous marriages refer to unions which are contracted between two biologically linked individuals. These unions remain frequent and are widely practiced in certain areas of the globe. The most frequently concerned regions extend from the southern shore of the Mediterranean Sea, across the Middle East, Mesopotamia, the Persian Gulf and sub continental India extending into Southeast Asia. Based on available data, it appears that couples who are second-degree relations or closer and their offspring represent 10.4% of the world's current population. The consequences on the rates of genetically determined diseases are significant, especially in autosomal recessive diseases. Twin and adoption studies as well as risk estimations for the occurrence of mental disorders in families of patients who suffer from mental disorders have confirmed the existence of a genetic component in the vulnerability to numerous psychiatric diseases. Recent techniques examining the entire genome or pan-genomic association studies (Genome-Wide Association Studies or GWAS), have enabled us to identify increasing numbers of genes that are implicated in major mental disorders such as schizophrenia, autism and bipolar disorders. Epidemiological genetic studies in consanguineous populations and/or within geographic isolates have shown an increased rate in infant mortality and morbidity, monogenetic recessive diseases and common multifactorial diseases such as psychotic disorders. These confirm the existence of a significant link between consanguinity, mental disorders and increased risk within the offspring of consanguineous couples. Studies concerning the links between consanguinity and psychotic disorders are few. Rare available data seem to plead in favour of an increased frequency of schizophrenia and bipolar disorder in the offspring of consanguineous parents. The recent discovery of rare genetic variants and their implications in psychotic disorders represents an argument in favour of the "common disease-rare variants" hypothesis. Within this framework, the study of consanguineous families could contribute to testing the links between these rare variants and certain phenotypes and to establish descriptive genotype-phenotype associations. The development of new techniques in molecular genetics should facilitate such studies. All of these aspects show the importance of studying consanguineous populations in order to better understand the role of genetic determinants in psychiatric pathologies and to highlight the interest of genetic counselling in communities with increased risks of mental disorders. This may also enable governments to enact prevention policies and to launch awareness campaigns concerning the risks of consanguineous marriages. (C) 2013 Elsevier Masson SAS. All rights reserved.
RP Taleb, M (reprint author), Pavillon Calmette,5,Rue Dr Burnet, F-27200 Vernon, France.
EM mtaleb@orange.fr
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NR 48
TC 1
Z9 1
PU MASSON EDITEUR
PI MOULINEAUX CEDEX 9
PA 21 STREET CAMILLE DESMOULINS, ISSY, 92789 MOULINEAUX CEDEX 9, FRANCE
SN 0003-4487
J9 ANN MED-PSYCHOL
JI Ann. Med.-Psychol.
PD MAY
PY 2013
VL 171
IS 4
BP 246
EP 250
DI 10.1016/j.amp.2013.01.036
PG 5
WC Pharmacology & Pharmacy; Psychiatry; Psychology; Psychology,
Multidisciplinary
SC Pharmacology & Pharmacy; Psychiatry; Psychology
GA 152QK
UT WOS:000319546000006
ER
PT J
AU Buie, T
AF Buie, Timothy
TI The Relationship of Autism and Gluten
SO CLINICAL THERAPEUTICS
LA English
DT Review
DE autism; autism spectrum disorders; diet; gluten; treatment
ID CELIAC-DISEASE; FOOD ALLERGY; FREE DIET; SENSITIVITY; DISORDERS;
PERMEABILITY; ASSOCIATION; HYPOTHESIS; DIAGNOSIS; CHILDREN
AB Background: Autism is now a common condition with a prevalence of 1 in 88 children. There is no known etiology. Speculation about possible treatments for autism or autism spectrum disorders (ASD) has included the use of various dietary interventions, including a gluten-free diet.
Objective: The goal of this article was to review the literature available evaluating the use of gluten-free diets in patients with autism to determine if diet should be instituted as a treatment.
Methods: A literature review was performed, identifying previously published studies in which a gluten-free diet was instituted as an autism treatment. These studies were not limited to randomized controlled trials because only 1 article was available that used a double-blind crossover design. Most publish reports were unblinded, observational studies.
Results: In the only double-blind, crossover study, no benefit of a gluten-free diet was identified. Several other studies did report benefit from gluten-free diet. Controlling for observer bias and what may have represented unrelated progress over time in these studies is not possible. There are many barriers to evaluating treatment benefits for patients with autism. Gluten sensitivity may present in a variety of ways, including gastrointestinal and neurologic symptoms. Although making a diagnosis of celiac disease is easier with new serology and genetic testing, a large number of gluten-sensitive patients do not have celiac disease. Testing to confirm non celiac gluten sensitivity is not available.
Conclusions: A variety of symptoms may be present with gluten sensitivity. Currently, there is insufficient evidence to support instituting a gluten-free diet as a treatment for autism. There may be a subgroup of patients who might benefit from a gluten-free diet, but the symptom or testing profile of these candidates remains unclear. (c) 2013 Elsevier HS Journals, Inc. All rights reserved.
C1 [Buie, Timothy] Harvard Univ, Sch Med, Massachusetts Gen Hosp Children, Boston, MA 02114 USA.
RP Buie, T (reprint author), Harvard Univ, Sch Med, 175 Cambridge St, Boston, MA 02114 USA.
EM tbuie@partners.org
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NR 42
TC 2
Z9 3
PU ELSEVIER
PI BRIDGEWATER
PA 685 ROUTE 202-206, BRIDGEWATER, NJ 08807 USA
SN 0149-2918
J9 CLIN THER
JI Clin. Ther.
PD MAY
PY 2013
VL 35
IS 5
BP 578
EP 583
DI 10.1016/j.clinthera.2013.04.011
PG 6
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA 153YA
UT WOS:000319637500006
PM 23688532
ER
PT J
AU Theoharides, TC
AF Theoharides, Theoharis C.
TI Is a Subtype of Autism an Allergy of the Brain?
SO CLINICAL THERAPEUTICS
LA English
DT Review
DE allergy; autism; brain; inflammation; mast cells; mitochondria
ID CORTICOTROPIN-RELEASING HORMONE; HUMAN MAST-CELLS; SPECTRUM DISORDERS;
MITOCHONDRIAL-DNA; NEUROTENSIN RECEPTOR; HISTAMINE-SECRETION; MEDIATOR
RELEASE; LUTEOLIN; ACTIVATION; MASTOCYTOSIS
AB Background: Autism spectrum disorders (ASDs) are characterized by deficits in social communication and language and the presence of repetitive behaviors that affect as many as 1 in 50 US children. Perinatal stress and environmental factors appear to play a significant role in increasing the risk for ASDs. There is no definitive pathogenesis, which therefore significantly hinders the development of a cure.
Objective: We aimed to identify publications using basic or clinical data that suggest a possible association between atopic symptoms and ASDs, as well as evidence of how such an association could lead to brain disease, that may explain the pathogenesis of ASD.
Methods: PubMed was searched for articles published since 1995 that reported any association between autism and/or ASDs and any one of the following terms: allergy, atopy, brain, corticotropin-releasing hormone, cytokines, eczema, food allergy, food intolerance, gene mutation, inflammation, mast cells, mitochondria, neurotensin, phenotype, stress, subtype, or treatment.
Results: Children with ASD respond disproportionally to stress and also present with food and skin allergies that involve mast cells. Brain mast cells are found primarily in the hypothalamus, which participates in the regulation of behavior and language. Corticotropin-releasing hormone is secreted from the hypothalamus under stress and, together with neurotensin, stimulates brain mast cells that could result in focal brain allergy and neurotoxicity. Neurotensin is significantly increased in serum of children with ASD and stimulates mast cell secretion of mitochondrial adenosine triphosphate and DNA, which is increased in these children; these mitochondrial components are misconstrued as innate pathogens, triggerng an autoallergic response in the brain. Gene mutations associated with higher risk of ASD have been linked to reduction of the phosphatase and tensin homolog, which inhibits the mammalian target of rapamycin (mTOR). These same mutations also lead to mast cell activation and proliferation. Corticotropin-releasing hormone, neurotensin, and environmental toxins could further trigger the already activated mTOR, leading to superstimulation of brain mast cells in those areas responsible for ASD symptoms. Preliminary evidence indicates that the flavonoid luteolin is a stronger inhibitor of mTOR than rapamycin and is a potent mast cell blocker.
Conclusion: Activation of brain mast cells by allergic, environmental, immune, neurohormonal, stress, and toxic triggers, especially in those areas associated with behavior and language, lead to focal brain allergies and subsequent focal encephalitis. This possibility is more likely in the subgroup of patients with ASD susceptibility genes that also involve mast cell activation. (c) 2013 Elsevier HS Journals, Inc. All rights reserved.
C1 [Theoharides, Theoharis C.] Tufts Univ, Sch Med, Dept Mol Physiol & Pharmacol, Mol Immunopharmacol & Drug Discovery Lab, Boston, MA 02111 USA.
[Theoharides, Theoharis C.] Tufts Univ, Sch Med, Dept Biochem, Boston, MA 02111 USA.
[Theoharides, Theoharis C.] Tufts Univ, Sch Med, Dept Internal Med, Boston, MA 02111 USA.
[Theoharides, Theoharis C.] Tufts Med Ctr, Boston, MA USA.
[Theoharides, Theoharis C.] Tufts Univ, Sch Med, Dept Psychiat, Boston, MA 02111 USA.
RP Theoharides, TC (reprint author), Tufts Univ, Sch Med, Dept Mol Physiol & Pharmacol, Mol Immunopharmacol & Drug Discovery Lab, 136 Harrison Ave, Boston, MA 02111 USA.
EM theoharis.theoharides@tufts.edu
FU National Institutes of Health [NS38326, AR47652]; Autism Collaborative;
Autism Research Institute; National Autism Association; Safe Minds;
Theta Biomedical Consulting and Development Co, Inc (Brookline,
Massachusetts)
FX Aspects of our work were funded by National Institutes of Health grants
NS38326 and AR47652, as well as the Autism Collaborative, the Autism
Research Institute, National Autism Association, Safe Minds, and Theta
Biomedical Consulting and Development Co, Inc (Brookline,
Massachusetts). Many thanks are due to Smaro Panagiotidou for her
excellent word processing skills. Dr. Theoharides was the sole author
responsible for the literature search, data interpretation, figure
creation, and writing of the manuscript.
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NR 105
TC 9
Z9 9
PU ELSEVIER
PI BRIDGEWATER
PA 685 ROUTE 202-206, BRIDGEWATER, NJ 08807 USA
SN 0149-2918
J9 CLIN THER
JI Clin. Ther.
PD MAY
PY 2013
VL 35
IS 5
BP 584
EP 591
DI 10.1016/j.clinthera.2013.04.009
PG 8
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA 153YA
UT WOS:000319637500007
PM 23688533
ER
PT J
AU Taliou, A
Zintzaras, E
Lykouras, L
Francis, K
AF Taliou, Anilia
Zintzaras, Elias
Lykouras, Lefteris
Francis, Kostantinos
TI An Open-Label Pilot Study of a Formulation Containing the
Anti-Inflammatory Flavonoid Luteolin and Its Effects on Behavior in
Children With Autism Spectrum Disorders
SO CLINICAL THERAPEUTICS
LA English
DT Article
DE ASD; luteolin; flavonoids; inflammation; brain
ID GLOBAL IMPRESSION SCALE; ADAPTIVE-BEHAVIOR; CLINICAL-TRIALS;
INFLAMMATION; ADOLESCENTS; RISPERIDONE; CHECKLIST; PROGRESS; DISEASE;
SCORES
AB Background: Accumulating evidence suggests an association between autism spectrum disorders (ASD) and inflammation in brain regions related to cognitive function. The natural flavonoid luteolin has antioxidant, anti-inflammatory, mast cell blocking, and neuroprotective effects. It was shown to improve cognitive performance in a mouse model of ASD, but its effect in humans has not been adequately studied.
Objectives: The goal of this study was to assess the effectiveness and tolerability in white children with ASD of a dietary supplement containing 2 flavonoids (>95% pure), luteolin (100 mg/capsule, from chamomile) and quercetin (70 mg/capsule), and the quercetin glycoside rutin (30 mg/capsule) from the Sophora japonica leaf, formulated in olive kernel oil to increase oral absorption.
Methods: Fifty children (4-10 years old; 42 boys and 8 girls) with ASD were enrolled in a 26-week, prospective, open-label trial at the 2nd University Department of Psychiatry at "Attikon" General Hospital, Athens, Greece. Children were referred for the study by their respective physicians or came from the practice of the senior author. ASD diagnosis by clinical assessment was based on the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision, symptom list and corroborated by using the Autism Diagnostic Observation Schedule. The dose of the study formulation used was 1 capsule per 10 kg weight per day with food. The primary outcome measures were the age-equivalent scores in the Vineland Adaptive Behavior Scales domains. Secondary outcomes included the Aberrant Behavior Checklist, the Autism Treatment Evaluation Checklist, and the Clinical Global Impression Improvement score. Data were measured at baseline, week 18, and week 26. Parents were interviewed for any possible improvements they noticed and instructed to report any unusual adverse events.
Results: A total of 40 children completed the protocol. There was a significant improvement in adaptive functioning as measured by using the VABS age-equivalent scores (8.43 months in the communication domain, 7.17 months in daily living skills, and 8 months in the social domain; P < 0.005), as well as in overall behavior as indicated by the reduction (26.6%-34.8%) in Aberrant Behavior Checklist subscale scores. Age, sex, and history of allergies had no effect on the results, whereas the initial level of functioning or difficulty did predict the final outcome in most of the measures used. There was a transient (1-8 weeks) increased irritability in 27 of the 50 participants.
Conclusions: These results are encouraging in that the combination of the flavonoids luteolin and quercetin seemed to be effective in reducing ASD symptoms, with no major adverse effects. (c) 2013 Elsevier HS Journals, Inc. All rights reserved.
C1 [Taliou, Anilia; Lykouras, Lefteris; Francis, Kostantinos] Univ Athens, Sch Med, Dept Psychiat 2, Attikon Gen Hosp, Athens 12462, Greece.
[Zintzaras, Elias] Univ Larissa, Dept Math & Bioinformat, Larisa, Greece.
RP Francis, K (reprint author), Univ Athens, Sch Med, Dept Psychiat 2, Attikon Gen Hosp, 1 Rimini St, Athens 12462, Greece.
EM cfrancis@otenet.gr
FU Algonot, LLC
FX This study was funded by Algonot, LLC, the maker of the study
formulation. This support consisted of free formulation to the patients
for the duration of the study and a small honorarium to Drs. Taliou,
Lykouras, and Francis for the time required to perform the diagnoses,
the administration of the outcome instruments, and the tabulation and
writing of the results. The biostatistician (Dr. Zintzaras) performed
the analysis blinded and pro bono. Study sponsors had no involvement in
the study design; in the collection, analysis, and interpretation of
data; the writing of the manuscript; or in the decision to submit the
manuscript for publication.
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NR 50
TC 12
Z9 12
PU ELSEVIER
PI BRIDGEWATER
PA 685 ROUTE 202-206, BRIDGEWATER, NJ 08807 USA
SN 0149-2918
J9 CLIN THER
JI Clin. Ther.
PD MAY
PY 2013
VL 35
IS 5
BP 592
EP 602
DI 10.1016/j.clinthera.2013.04.006
PG 11
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA 153YA
UT WOS:000319637500008
PM 23688534
ER
PT J
AU Cauffield, JS
AF Cauffield, Jacintha S.
TI Medication use in autism spectrum disorders: What is the evidence?
SO FORMULARY
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; REPETITIVE BEHAVIORS; CROSSOVER
TRIAL; ADULT AUTISM; CHILDREN; ADOLESCENTS; HYPERACTIVITY;
METHYLPHENIDATE; IRRITABILITY; ARIPIPRAZOLE
AB Autism spectrum disorders (ASD) are complex neurodevelopmental disorders that involve significant social functional impairment and behavioral inflexibility. Autism is the most severe form of ASD and includes significant impairment in communication skills. Treatment of ASD is complex and involves a comprehensive educational interventional plan. Medications are used only as adjuncts, and only in cases in which maladaptive behaviors are severe or life-threatening, or to enable a patient to participate in their behavioral therapies. The most commonly used medications include second-generation antipsychotics (SGAs), selective serotonin reuptake inhibitors (SSR15), and psychostimulants. Risperidone and aripiprazole are the only medications to carry an FDA indication to treat ASD-related symptoms. There is interest in using newer agents, such as atomoxetine, galantamine, rivastigmine, and memantine, to treat ASD-associated symptoms, but data are lacking to support their use.
C1 Palm Beach Atlantic Univ, Lloyd L Gregory Sch Pharm, W Palm Beach, FL 33416 USA.
RP Cauffield, JS (reprint author), Palm Beach Atlantic Univ, Lloyd L Gregory Sch Pharm, W Palm Beach, FL 33416 USA.
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2002, N ENGL MED, V347, P314
NR 30
TC 0
Z9 0
PU ADVANSTAR COMMUNICATIONS INC
PI DULUTH
PA 131 W 1ST STREET, DULUTH, MN 55802 USA
SN 1082-801X
J9 FORMULARY
JI Formulary
PD MAY
PY 2013
VL 48
IS 5
BP 161
EP +
PG 6
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA 149IH
UT WOS:000319311700007
ER
PT J
AU Grove, R
Baillie, A
Allison, C
Baron-Cohen, S
Hoekstra, RA
AF Grove, Rachel
Baillie, Andrew
Allison, Carrie
Baron-Cohen, Simon
Hoekstra, Rosa A.
TI Empathizing, Systemizing, and Autistic Traits: Latent Structure in
Individuals With Autism, Their Parents, and General Population Controls
SO JOURNAL OF ABNORMAL PSYCHOLOGY
LA English
DT Article
DE autism; factor analysis; genetics; broader autism phenotype; family
studies
ID SPECTRUM QUOTIENT AQ; HIGH-FUNCTIONING AUTISM; WEAK CENTRAL COHERENCE;
NORMAL SEX-DIFFERENCES; MALE BRAIN THEORY; ASPERGER-SYNDROME; COGNITIVE
PHENOTYPE; FAMILY-HISTORY; FIT INDEXES; DE-NOVO
AB The search for genes involved in autism spectrum conditions (ASC) may have been hindered by the assumption that the different symptoms that define the condition can be attributed to the same causal mechanism. Instead the social and nonsocial aspects of ASC may have distinct causes at genetic, cognitive, and neural levels. It has been posited that the core features of ASC can be explained by a deficit in empathizing alongside intact or superior systemizing; the drive to understand and derive rules about a system. First-degree relatives also show some mild manifestations that parallel the defining features of ASC, termed the broader autism phenotype. Factor analyses were conducted to assess whether the latent structure of empathizing, systemizing, and autistic traits differs across samples with a high (individuals on the spectrum), medium (first-degree relatives) or low (general population controls) genetic vulnerability to autism. Results highlighted a two-factor model, confirming an empathizing and a systemizing factor. The relationship between these two factors was significantly stronger in first-degree relatives and the autism group compared with controls. The same model provided the best fit among the three groups, suggesting a similar latent structure irrespective of genetic vulnerability. However, results also suggest that although these traits are relatively independent in the general population, they are substantially correlated in individuals with ASC and their parents. This implies that there is substantially more overlap between systemizing and empathizing among individuals with an increased genetic liability to autism. This has potential implications for the genetic, environmental, and cognitive explanations of autism spectrum conditions.
C1 [Grove, Rachel; Baillie, Andrew] Macquarie Univ, Dept Psychol, Ctr Emot Hlth, Sydney, NSW 2109, Australia.
[Allison, Carrie; Baron-Cohen, Simon; Hoekstra, Rosa A.] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England.
[Hoekstra, Rosa A.] Open Univ, Fac Sci, Milton Keynes MK7 6AA, Bucks, England.
RP Grove, R (reprint author), Macquarie Univ, Dept Psychol, Ctr Emot Hlth, Sydney, NSW 2109, Australia.
EM rachel.grove@mq.edu.au
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NR 76
TC 4
Z9 4
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0021-843X
J9 J ABNORM PSYCHOL
JI J. Abnorm. Psychol.
PD MAY
PY 2013
VL 122
IS 2
BP 600
EP 609
DI 10.1037/a0031919
PG 10
WC Psychology, Clinical; Psychology, Multidisciplinary
SC Psychology
GA 148JO
UT WOS:000319241100028
PM 23713510
ER
PT J
AU Milston, SI
Vanman, EJ
Cunnington, R
AF Milston, Sashenka I.
Vanman, Eric J.
Cunnington, Ross
TI Cognitive empathy and motor activity during observed actions
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Mu; Beta; EEG; Empathy; Perspective taking; Mirror neuron system
ID INFERIOR FRONTAL GYRUS; MIRROR NEURON SYSTEM; SOCIAL COGNITION; AUTISM;
PAIN; PERCEPTION; MODULATION; HUMANS; MU; OSCILLATIONS
AB Whether empathy depends on activation of the mirror neuron system is controversial. This study tested the relationship between cognitive empathy and motor activation during action observation through the sensorimotor system. EEG activity was recorded over the motor area while participants observed and then performed a task demonstrated by a model. Analyses revealed significant suppression in mu/alpha (8-12 Hz) and beta (18-22 Hz) EEG bands, indicative of sensorimotor activity, during both observed and executed actions. Crucially, participants rating higher in perspective taking as a measure of trait cognitive empathy showed significantly less beta suppression when observing actions. The direction of this relationship, contrary to studies involving induced emotional empathy, may reflect individual differences in mentalizing and mirroring mechanisms to understand others' actions. Implications of these findings for the hypothesised empathy-mirror neuron system link are discussed. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Milston, Sashenka I.; Vanman, Eric J.; Cunnington, Ross] Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
[Cunnington, Ross] Univ Queensland, Queensland Brain Inst, Brisbane, Qld 4072, Australia.
RP Cunnington, R (reprint author), Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
EM r.cunnington@uq.edu.au
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NR 43
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3932
J9 NEUROPSYCHOLOGIA
JI Neuropsychologia
PD MAY
PY 2013
VL 51
IS 6
BP 1103
EP 1108
DI 10.1016/j.neuropsychologia.2013.02.020
PG 6
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA 152MK
UT WOS:000319535600009
PM 23499724
ER
PT J
AU Milne, E
Dunn, SA
Freeth, M
Rosas-Martinez, L
AF Milne, Elizabeth
Dunn, Stephanie A.
Freeth, Megan
Rosas-Martinez, Luisa
TI Visual search performance is predicted by the degree to which selective
attention to features modulates the ERP between 350 and 600 ms
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Visual search; Autistic traits; P3B; Selection negativity; ERPs; Induced
gamma-band power
ID AUTISM SPECTRUM DISORDER; INDEPENDENT COMPONENT ANALYSIS; EVENT-RELATED
POTENTIALS; FUNCTIONING AUTISM; RESPONSES; CORTEX; EEG; PERCEPTION;
SUPERIOR; TRAITS
AB Efficient visual search necessitates perception of items in the visual array, rapid classification of items as either targets or distractors, and the selection of target items. Individuals vary in the speed with which they perform these operations and can detect targets within cluttered arrays, as shown in visual search tasks. Individuals with autism spectrum disorders (ASD) show particular strengths in visual search. The aim of the current study was to develop an understanding the origin of individual variability in visual search by delineating the processes involved in feature-based target detection, and establishing which, if any, of these processes predict search efficiency. EEG was recorded while participants performed a feature-based selective attention task from which the following EEG variables were computed: P1 amplitude; P1 latency; selection negativity; induced gamma-band power and P3b amplitude. These variables are considered to reflect stimulus encoding, feedback amplification of attended features, cognitive utilization and resource allocation during event classification respectively. Participants also completed a separate visual search task. Regression analyses revealed that only the ERP component associated with resource allocation during event classification (P3b) significantly predicted search efficiency. These data suggest that individual variability in visual search is related to a reduction in modulation of attention allocation to visual features. Implications for the understanding of superior visual search in individuals with ASD are discussed. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Milne, Elizabeth; Dunn, Stephanie A.; Freeth, Megan; Rosas-Martinez, Luisa] Univ Sheffield, Sheffield Autism Res Lab, Dept Psychol, Sheffield S10 2TN, S Yorkshire, England.
RP Milne, E (reprint author), Univ Sheffield, Sheffield Autism Res Lab, Dept Psychol, Sheffield S10 2TN, S Yorkshire, England.
EM E.Milne@sheffield.ac.uk
FU Experimental Psychology Society
FX This work was supported, in part, by an award from the Experimental
Psychology Society. We would like to thank Abby Dickenson for her help
with EEG pre-processing.
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NR 62
TC 3
Z9 4
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3932
J9 NEUROPSYCHOLOGIA
JI Neuropsychologia
PD MAY
PY 2013
VL 51
IS 6
BP 1109
EP 1118
DI 10.1016/j.neuropsychologia.2013.03.002
PG 10
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA 152MK
UT WOS:000319535600010
PM 23499721
ER
PT J
AU Korade, Z
Folkes, OM
Harrison, FE
AF Korade, Z.
Folkes, O. M.
Harrison, F. E.
TI Behavioral and serotonergic response changes in the Dhcr7-HET mouse
model of Smith-Lemli-Opitz syndrome
SO PHARMACOLOGY BIOCHEMISTRY AND BEHAVIOR
LA English
DT Article
DE Cholesterol; Behavior; Serotonin; Smith-Lemli-Opitz syndrome; Autism;
Pharmacological testing
ID AUTISM SPECTRUM DISORDERS; SEROTONIN(1A) RECEPTOR; REDUCTASE GENE;
CHOLESTEROL; ABNORMALITIES; MUTATIONS; MICE; PATHOGENESIS; PHENOTYPE;
RELEVANT
AB Smith-Lemli-Opitz syndrome (SLOS) is a developmental disorder resulting from mutations to the Dhcr7 gene, which is required for cholesterol synthesis. Patients with SLOS typically exhibit a number of severe behavioral deficits and many are diagnosed with autistic spectrum disorder. Although the molecular pathophysiology underlying behavioral changes in SLOS and autism spectrum disorders is poorly understood, there is evidence for the involvement of the serotonergic system in SLOS and autism in general. Behavioral testing was undertaken to ascertain the basal behavioral differences between Dhcr7-heterozygous (HET) and wildtype control mice and explore the utility of a Dhcr7-HET mouse line in the development of new treatments for this disorder. Dhcr7-HET mice did not differ from wild-type control mice on basic measures of locomotor activity, anxiety and neuromuscular ability. However, female Dhcr7-HET mice at 6 months of age or older were significantly more likely to win on the social dominance tube test against an unfamiliar mouse. Pharmacological testing, using the 5-HT2A agonist 1-(2,5-dimethoxy-4-iodophenyl)-2-aminopropane (DOI), showed increased head-twitch response in Dhcr7-HET mice, which was apparent from 6 months of age. No differences were found between the genotypes in testing for 5-HT1A agonist 8-OH-DPAT-induced hypothermia. These data indicate an underlying dysfunction of the 5-HT2A receptors in Dhcr7-HET mice that warrants further investigation to establish how this may relate to behavioral disturbances in human patients carrying Dhcr7 mutations. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Folkes, O. M.; Harrison, F. E.] Vanderbilt Univ, Med Ctr, Div Diabet Endocrinol & Metab, Nashville, TN USA.
[Korade, Z.] Vanderbilt Univ, Med Ctr, Dept Psychiat, Nashville, TN USA.
[Korade, Z.; Harrison, F. E.] Vanderbilt Kennedy Ctr Res Human Dev, Nashville, TN USA.
RP Harrison, FE (reprint author), 7465 MRB 4,2213 Garland Ave, Nashville, TN 37232 USA.
EM Fiona.Harrison@Vanderbilt.edu
FU Vanderbilt Kennedy Center; Division of Diabetes, Endocrinology and
Metabolism, of Vanderbilt University; NICHD [P30 HD15052]
FX The authors are grateful for funding from the Vanderbilt Kennedy Center
and the Division of Diabetes, Endocrinology and Metabolism, of
Vanderbilt University, and NICHD grant P30 HD15052 to the Vanderbilt
Kennedy Center for Research on Human Development. We are grateful to Dr.
Jeremy Veenstra-VanderWeele for advice about pharmacological testing. We
wish to thank Refayat Ahsen for help with pharmacological testing.
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NR 37
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0091-3057
J9 PHARMACOL BIOCHEM BE
JI Pharmacol. Biochem. Behav.
PD MAY
PY 2013
VL 106
BP 101
EP 108
DI 10.1016/j.pbb.2013.03.007
PG 8
WC Behavioral Sciences; Neurosciences; Pharmacology & Pharmacy
SC Behavioral Sciences; Neurosciences & Neurology; Pharmacology & Pharmacy
GA 154AB
UT WOS:000319642800012
PM 23541496
ER
PT J
AU Cohen, D
Cassel, RS
Saint-Georges, C
Mahdhaoui, A
Laznik, MC
Apicella, F
Muratori, P
Maestro, S
Muratori, F
Chetouani, M
AF Cohen, David
Cassel, Raquel S.
Saint-Georges, Catherine
Mahdhaoui, Ammar
Laznik, Marie-Christine
Apicella, Fabio
Muratori, Pietro
Maestro, Sandra
Muratori, Filippo
Chetouani, Mohamed
TI Do Parentese Prosody and Fathers' Involvement in Interacting Facilitate
Social Interaction in Infants Who Later Develop Autism?
SO PLOS ONE
LA English
DT Article
ID CHILD-DIRECTED SPEECH; SPECTRUM DISORDERS; PHYSIOLOGICAL PRECURSORS;
DOUBLE VIDEO; COMMUNICATION; SYNCHRONY; MOTHERESE; RESPONSES;
RECOGNITION; PREFERENCES
AB Background: Whether development of autism impacts the interactive process between an infant and his/her parents remains an unexplored issue.
Methodology and Principal Findings: Using computational analysis taking into account synchronic behaviors and emotional prosody (parentese), we assessed the course of infants' responses to parents' type of speech in home movies from typically developing (TD) infants and infants who will subsequently develop autism aged less than 18 months. Our findings indicate: that parentese was significantly associated with infant responses to parental vocalizations involving orientation towards other people and with infant receptive behaviours; that parents of infants developing autism displayed more intense solicitations that were rich in parentese; that fathers of infants developing autism spoke to their infants more than fathers of TD infants; and that fathers' vocalizations were significantly associated with intersubjective responses and active behaviours in infants who subsequently developed autism.
Conclusion: The parents of infants who will later develop autism change their interactive pattern of behaviour by both increasing parentese and father's involvement in interacting with infants; both are significantly associated with infant's social responses. We stress the possible therapeutic implications of these findings and its implication for Dean Falk's theory regarding pre-linguistic evolution in early hominins.
C1 [Cohen, David; Cassel, Raquel S.; Saint-Georges, Catherine] Univ Paris 06, Grp Hosp Pitie Salpetriere, AP HP, Dept Child & Adolescent Psychiat, Paris, France.
[Cohen, David; Cassel, Raquel S.; Saint-Georges, Catherine; Mahdhaoui, Ammar; Chetouani, Mohamed] Univ Paris 06, Ctr Natl Rech Sci UMR 7222, Inst Syst Intelligents & Robot, Paris, France.
[Laznik, Marie-Christine] Assoc Sante Mentale 13Eme, Dept Child & Adolescent Psychiat, Paris, France.
[Apicella, Fabio; Muratori, Pietro; Maestro, Sandra; Muratori, Filippo] Univ Pisa, Stella Maris Sci Inst, Div Child Neurol & Psychiat, Calambrone, Italy.
RP Cohen, D (reprint author), Univ Paris 06, Grp Hosp Pitie Salpetriere, AP HP, Dept Child & Adolescent Psychiat, Paris, France.
EM david.cohen@psl.aphp.fr
FU Italian Ministry of Instruction, University, and Research; Fondation de
France [2008005170]; Universite Pierre et Marie Curie; European
Commission [288241]; fund "Entreprendre pour aider"
FX The Pisa "home video in autism" project was supported by grants PRIN
2003-2005 and PRIN 2005-2007 from the Italian Ministry of Instruction,
University, and Research. The current study was supported by a grant
(no2008005170) from the Fondation de France given to MC and DC, by the
Universite Pierre et Marie Curie (Projet Emergence 2010) the European
Commission (FP7: Michelangelo under grant agreement no 288241), and the
fund "Entreprendre pour aider". The funding agencies and the University
were not involved in the study design, collection, analysis and
interpretation of data, writing of the paper, or the decision to submit
for publication.
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NR 55
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 MAY 1
PY 2013
VL 8
IS 5
AR e61402
DI 10.1371/journal.pone.0061402
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 147KY
UT WOS:000319167000013
PM 23650498
ER
PT J
AU Drake, JE
AF Drake, Jennifer E.
TI Is Superior Local Processing in the Visuospatial Domain a Function of
Drawing Talent Rather Than Autism Spectrum Disorder?
SO PSYCHOLOGY OF AESTHETICS CREATIVITY AND THE ARTS
LA English
DT Article
DE autism; local processing; giftedness; drawing
ID WEAK CENTRAL COHERENCE; DISEMBEDDING PERFORMANCE; ASPERGER-SYNDROME;
CHILDREN; ADOLESCENTS; ABILITY; INTACT; IQ
AB This study challenges the prevailing assumption that superior local processing is specific to autism spectrum diagnosis and suggests instead that such processing skill is a function of realistic drawing talent. Fifteen children with autism spectrum disorder (ASD) and 15 without ASD made an observational drawing scored for level of drawing realism and completed 2 tasks that allowed for the assessment of a local processing bias: the Block Design Task in unsegmented and segmented form at three levels of perceptual cohesiveness (minimal, intermediate, and maximal), and the Group Embedded Figures Test. Drawing realism score, not ASD diagnosis, predicted performance on the unsegmented version of the Block Design Task and on the most difficult items-the unsegmented maximally cohesive items. Accuracy on the Group Embedded Figures Test was also more strongly associated with level of drawing realism than ASD diagnosis. Thus, the superior local processing seen in ASD may be due to the drawing talent so often present in those with ASD.
C1 [Drake, Jennifer E.] Boston Coll, Chestnut Hill, MA 02467 USA.
RP Drake, JE (reprint author), Boston Coll, Dept Psychol, 140 Commonwealth Ave, Chestnut Hill, MA 02467 USA.
EM drakejc@bc.edu
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NR 26
TC 3
Z9 3
PU EDUCATIONAL PUBLISHING FOUNDATION-AMERICAN PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST, NE, WASHINGTON, DC 20002-4242 USA
SN 1931-3896
J9 PSYCHOL AESTHET CREA
JI Psychol. Aesthet. Creat. Arts.
PD MAY
PY 2013
VL 7
IS 2
BP 203
EP 209
DI 10.1037/a0030636
PG 7
WC Humanities, Multidisciplinary; Psychology, Experimental
SC Arts & Humanities - Other Topics; Psychology
GA 146FZ
UT WOS:000319076600011
ER
PT J
AU Iwanaga, R
Tanaka, G
Nakane, H
Honda, S
Imamura, A
Ozawa, H
AF Iwanaga, Ryoichiro
Tanaka, Goro
Nakane, Hideyuki
Honda, Sumihisa
Imamura, Akira
Ozawa, Hiroki
TI Usefulness of near-infrared spectroscopy to detect brain dysfunction in
children with autism spectrum disorder when inferring the mental state
of others
SO PSYCHIATRY AND CLINICAL NEUROSCIENCES
LA English
DT Article
DE autism spectrum disorders; child; near-infrared spectroscopy; prefrontal
cortex; theory of mind
ID ASPERGER-SYNDROME; MIND; TASKS; ATTRIBUTION; ACTIVATION; CORTEX; SYSTEM;
ADULTS
AB Aims The purpose of this study was to examine the usefulness of near-infrared spectroscopy (NIRS) for identifying abnormalities in prefrontal brain activity in children with autism spectrum disorders (ASD) as they inferred the mental states of others. Methods The subjects were 16 children with ASD aged between 8 and 14 years and 16 age-matched healthy control children. Oxygenated hemoglobin concentration was measured in the subject's prefrontal brain region on NIRS during tasks expressing a person's mental state (MS task) and expressing an object's characteristics (OC task). Results There was a significant main effect of group (ASD vs control), with the control group having more activity than the ASD group. But there was no significant main effect of task (MS task vs OC task) or hemisphere (right vs left). Significant interactions of task and group were found, with the control group showing more activity than the ASD group during the MS task relative to the OC task. Conclusions NIRS showed that there was lower activity in the prefrontal brain area when children with ASD performed MS tasks. Therefore, clinicians might be able to use NIRS and these tasks for conveniently detecting brain dysfunction in children with ASD related to inferring mental states, in the clinical setting.
C1 [Iwanaga, Ryoichiro; Tanaka, Goro; Nakane, Hideyuki; Honda, Sumihisa] Nagasaki Univ, Dept Hlth Sci, Grad Sch Biomed Sci, Div Phys & Occupat Therapy, Nagasaki 8528520, Japan.
[Imamura, Akira; Ozawa, Hiroki] Nagasaki Univ, Dept Translat Med Sci, Grad Sch Biomed Sci, Div Neuropsychiat, Nagasaki 8528520, Japan.
RP Iwanaga, R (reprint author), Nagasaki Univ, Dept Hlth Sci, Grad Sch Biomed Sci, 1-7-1 Sakamoto, Nagasaki 8528520, Japan.
EM iwanagar@nagasaki-u.ac.jp
FU Japan Society for the Promotion of Science [17790712]
FX This study was supported by a Grant-in-aid for Young Scientists (B) no.
17790712 from the Japan Society for the Promotion of Science. All
authors declare that they have no conflict of interest.
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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 1323-1316
J9 PSYCHIAT CLIN NEUROS
JI Psychiatry Clin. Neurosci.
PD MAY
PY 2013
VL 67
IS 4
BP 203
EP 209
DI 10.1111/pcn.12052
PG 7
WC Clinical Neurology; Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 148DT
UT WOS:000319223800002
PM 23683150
ER
PT J
AU Cook, R
Brewer, R
Shah, P
Bird, G
AF Cook, Richard
Brewer, Rebecca
Shah, Punit
Bird, Geoffrey
TI Alexithymia, Not Autism, Predicts Poor Recognition of Emotional Facial
Expressions
SO PSYCHOLOGICAL SCIENCE
LA English
DT Article
DE autism; alexithymia; face perception; identity recognition; emotion
recognition; emotions; facial expressions; individual differences
ID IMPAIRED RECOGNITION; SPECTRUM DISORDER; PERCEPTION; CHILDREN; VALIDITY;
IDENTITY; DEFICITS; AMYGDALA; ADULTS
AB Despite considerable research into whether face perception is impaired in autistic individuals, clear answers have proved elusive. In the present study, we sought to determine whether co-occurring alexithymia (characterized by difficulties interpreting emotional states) may be responsible for face-perception deficits previously attributed to autism. Two experiments were conducted using psychophysical procedures to determine the relative contributions of alexithymia and autism to identity and expression recognition. Experiment 1 showed that alexithymia correlates strongly with the precision of expression attributions, whereas autism severity was unrelated to expression-recognition ability. Experiment 2 confirmed that alexithymia is not associated with impaired ability to detect expression variation; instead, results suggested that alexithymia is associated with difficulties interpreting intact sensory descriptions. Neither alexithymia nor autism was associated with biased or imprecise identity attributions. These findings accord with the hypothesis that the emotional symptoms of autism are in fact due to co-occurring alexithymia and that existing diagnostic criteria may need to be revised.
C1 [Cook, Richard] City Univ London, Dept Psychol, London EC1R 0JD, England.
[Brewer, Rebecca; Bird, Geoffrey] Univ London, Kings Coll, Inst Psychiat, Med Res Council Social Genet & Dev Psychiat Ctr, London WC1E 7HU, England.
[Shah, Punit] Univ London, Birkbeck Coll, Dept Psychol Sci, London WC1E 7HU, England.
[Bird, Geoffrey] UCL, Inst Cognit Neurosci, London WC1E 6BT, England.
RP Cook, R (reprint author), City Univ London, Dept Psychol, Whiskin St, London EC1R 0JD, England.
EM richard.cook.1@city.ac.uk
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NR 39
TC 19
Z9 20
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0956-7976
J9 PSYCHOL SCI
JI Psychol. Sci.
PD MAY
PY 2013
VL 24
IS 5
BP 723
EP 732
DI 10.1177/0956797612463582
PG 10
WC Psychology, Multidisciplinary
SC Psychology
GA 143GI
UT WOS:000318854600013
PM 23528789
ER
PT J
AU Federico, F
Marotta, A
Adriani, T
Maccari, L
Casagrande, M
AF Federico, Francesca
Marotta, Andrea
Adriani, Tiziana
Maccari, Lisa
Casagrande, Maria
TI Attention network test - The impact of social information on executive
control, alerting and orienting
SO ACTA PSYCHOLOGICA
LA English
DT Article
DE Executive control; Alerting; Orienting; Eye-gaze; Attention Network Test
(ANT)
ID AUTISM SPECTRUM DISORDER; COGNITIVE-ETHOLOGY; GAZE; CHILDREN; FACES;
CUES; INDEPENDENCE; RECOGNITION; PERCEPTION; STIMULI
AB According to the attention network approach, attention is best understood in terms of three functionally and neuroanatomically distinct networks alerting, orienting, and executive attention. An important question is whether social information influences the efficiency of these networks. Using the same structure as the Attentional Network Test (ANT), we developed a variant of this test to examine attentional effects in response to stimuli with and without social-cognitive content. Fish, drawings or photographs of faces looking to the left or right were used as target stimuli. Results collected from twenty-four university students showed that photographs of faces positively affected attentional orienting and executive control, whereas reduced the efficiency of alerting, as compared to both face drawings and fish. These results support the status of human faces as a special class of visual stimuli for the human attentional systems. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Federico, Francesca; Adriani, Tiziana] Univ Roma La Sapienza, Dipartimento Psicol Proc Sviluppo & Socializzaz, Rome, Italy.
[Marotta, Andrea; Maccari, Lisa; Casagrande, Maria] Univ Roma La Sapienza, Dipartimento Psicol, Rome, Italy.
RP Casagrande, M (reprint author), Univ Roma La Sapienza, Dipartimento Psicol, Rome, Italy.
EM maria.casagrande@uniroma1.it
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NR 42
TC 4
Z9 4
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0001-6918
J9 ACTA PSYCHOL
JI Acta Psychol.
PD MAY
PY 2013
VL 143
IS 1
BP 65
EP 70
DI 10.1016/j.actpsy.2013.02.006
PG 6
WC Psychology, Experimental
SC Psychology
GA 139KW
UT WOS:000318582600009
PM 23542806
ER
PT J
AU Jin, X
Cui, NG
Zhong, WW
Jin, XT
Jiang, C
AF Jin, Xin
Cui, Ningren
Zhong, Weiwei
Jin, Xiao-Tao
Jiang, Chun
TI GABAergic synaptic inputs of locus coeruleus neurons in wild-type and
Mecp2-null mice
SO AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
LA English
DT Article
DE Rett syndrome; brainstem; locus coeruleus; noradrenaline; GABAergic
ID PRESYNAPTIC GABA(B) RECEPTORS; RETT-SYNDROME; MOUSE MODEL; BRAIN-STEM;
NORADRENERGIC NEURONS; CO2 CHEMOSENSITIVITY; INFERIOR COLLICULUS;
GLUTAMATE RELEASE; CERULEUS NEURONS; NEONATAL-RAT
AB Rett syndrome is an autism spectrum disorder resulting from defects in the gene encoding the methyl-CpG-binding protein 2 (MeCP2). Deficiency of the Mecp2 gene causes abnormalities in several systems in the brain, especially the norepinephrinergic and GABAergic systems. The norepinephrinergic neurons in the locus coeruleus (LC) modulate a variety of neurons and play an important role in multiple functions in the central nervous system. In Mecp2(-/Y) mice, defects in the intrinsic membrane properties of LC neurons have been identified, while how their synaptic inputs are affected remains unclear. Therefore, we performed these brain slice studies to demonstrate how LC neurons are regulated by GABAergic inputs and how such synaptic inputs are affected by Mecp2 knockout. In whole cell current clamp, the firing activity of LC neurons was strongly inhibited by the GABA(A) receptor agonist muscimol, accompanied by hyperpolarization and a decrease in input resistance. Such a postsynaptic inhibition was significantly reduced (by similar to 30%) in Mecp2(-/Y) mice. Post-and presynaptic GABA(B)ergic inputs were found in LC neurons, which were likely mediated by the G protein-coupled, Ba2+-sensitive K+ channels. The postsynaptic GABABergic inhibition was deficient by similar to 50% in Mecp2 knockout mice. Although the presynaptic GABA(B)ergic modulation appeared normal, both frequency and amplitude of the GABA(A)ergic mIPSCs were drastically decreased (by 30-40%) in Mecp2-null mice. These results suggest that the Mecp2 disruption causes defects in both post-and presynaptic GABAergic systems in LC neurons, impairing GABA(A)ergic and GABA(B)ergic postsynaptic inhibition and decreasing the GABA release from presynaptic terminals.
C1 [Jin, Xin; Cui, Ningren; Zhong, Weiwei; Jin, Xiao-Tao; Jiang, Chun] Georgia State Univ, Dept Biol, Atlanta, GA 30302 USA.
RP Jiang, C (reprint author), Georgia State Univ, Dept Biol, 100 Piedmont Ave, Atlanta, GA 30302 USA.
EM cjiang@gsu.edu
RI Jin, Xin/O-4506-2014; Jin, Xin/E-2746-2010
FU National Institute of Neurological Disorders and Stroke [NS-073875];
International Rett Syndrome Foundation
FX This work was supported by the National Institute of Neurological
Disorders and Stroke NS-073875 and the International Rett Syndrome
Foundation.
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NR 51
TC 4
Z9 4
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0363-6143
EI 1522-1563
J9 AM J PHYSIOL-CELL PH
JI Am. J. Physiol.-Cell Physiol.
PD MAY
PY 2013
VL 304
IS 9
BP C844
EP C857
DI 10.1152/ajpcell.00399.2012
PG 14
WC Cell Biology; Physiology
SC Cell Biology; Physiology
GA 137ZG
UT WOS:000318477000005
PM 23392116
ER
PT J
AU Buxbaum, JD
AF Buxbaum, Joseph D.
TI The Autism Sequencing Consortium: Prospective Genetic Data Sharing in
Autism Spectrum Disorders
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE autism; whole exome; next generation sequencing; genetics
C1 [Buxbaum, Joseph D.] Mt Sinai Sch Med, New York, NY USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 96
BP 31S
EP 31S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800097
ER
PT J
AU Farber, GK
AF Farber, Gregory K.
TI The National Database for Autism Research
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE database; autism; unique identifier; data sharing; data federation
C1 [Farber, Gregory K.] NIMH, Bethesda, MD 20892 USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 97
BP 31S
EP 31S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800098
ER
PT J
AU Milham, MP
AF Milham, Michael P.
TI Toward Open Neuroscience Solutions in Clinical Connectomics: The Autism
Brain Imaging Data Exchange (ABIDE)
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE autism; connectome; data sharing; resting state; MRI
C1 [Milham, Michael P.] Child Mind Inst, New York, NY USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 98
BP 31S
EP 32S
PG 2
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800099
ER
PT J
AU Di Martino, A
AF Di Martino, Adriana
TI The Autism Brain Imaging Data Exchange (ABIDE): What Did We Learn?
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE Autism; functional connectivity; data sharing; intrinsic functional
architecture; resting state
C1 [Di Martino, Adriana] NYU Child Study Ctr, New York, NY USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 99
BP 32S
EP 32S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800100
ER
PT J
AU Trent, S
Davies, W
AF Trent, Simon
Davies, William
TI Limited Downstream Gene Expression Changes in a Genetic Mouse Model of
Neurodevelopmental Disorder
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE Steroid sulfatase; ADHD; Autism; 5-HT; ASMT
C1 Sch Psychol & Med, Behav Genet Grp, Cardiff, S Glam, Wales.
CNGG, MRC, Cardiff, S Glam, Wales.
Cardiff Univ, NMHRI Cardiff, Cardiff CF10 3AX, S Glam, Wales.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 118
BP 38S
EP 39S
PG 2
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800119
ER
PT J
AU Denisova, K
Wang, ZS
Huo, YK
Peterson, BS
AF Denisova, Kristina
Wang, Zhishun
Huo, Yuankai
Peterson, Bradley S.
TI Neural Correlates of Cognitive Flexibility in Autism Spectrum Disorders
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE Autism Spectrum Disorder; fMRI; Cognitive Flexibility
C1 [Denisova, Kristina; Wang, Zhishun; Huo, Yuankai; Peterson, Bradley S.] Columbia Univ, New York, NY USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 166
BP 54S
EP 54S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800167
ER
PT J
AU Minhas, HM
Pescosolido, MF
Schwede, M
Piasecka, J
Gaitanis, J
Tantravahi, U
Morrow, EM
AF Minhas, Hassan M.
Pescosolido, Matthew F.
Schwede, Matthew
Piasecka, Justyna
Gaitanis, John
Tantravahi, Umadevi
Morrow, Eric M.
TI An Unbalanced Translocation Involving Loss of 10q26.2 and Gain of 11q25
in a Pedigree with Autism Spectrum Disorder and Cerebellar Juvenile
Pilocytic Astrocytoma
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE autism; astrocytoma; NTM; OPCML; t(10;11)
C1 [Minhas, Hassan M.; Pescosolido, Matthew F.; Schwede, Matthew; Piasecka, Justyna; Morrow, Eric M.] Brown Univ, Emma Pendleton Bradley Hosp, Warren Alpert Med Sch, Dev Disorders Genet Res Program, Providence, RI 02912 USA.
[Minhas, Hassan M.] Brown Univ, Emma Pendleton Bradley Hosp, Warren Alpert Med Sch, Dept Psychiat & Human Behav, Providence, RI 02912 USA.
[Minhas, Hassan M.; Pescosolido, Matthew F.; Gaitanis, John; Morrow, Eric M.] Brown Univ, RI CART, Warren Alpert Med Sch, Providence, RI 02912 USA.
[Schwede, Matthew; Morrow, Eric M.] Brown Univ, Dept Mol Biol Cell Biol & Biochem, Providence, RI 02912 USA.
[Schwede, Matthew; Morrow, Eric M.] Brown Univ, Inst Brain Sci, Providence, RI 02912 USA.
[Gaitanis, John] Brown Univ, Rhode Isl Hosp, Warren Alpert Med Sch, Providence, RI 02903 USA.
[Tantravahi, Umadevi] Brown Univ, Dept Pathol, Woman & Infants Hosp, Div Genet,Warren Alpert Med Sch, Providence, RI 02912 USA.
RI Morrow, Eric/J-2767-2013
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 210
BP 68S
EP 68S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800211
ER
PT J
AU Alaerts, K
Di Martino, A
Swinnen, SP
Wenderoth, N
AF Alaerts, Kaat
Di Martino, Adriana
Swinnen, Stephan P.
Wenderoth, Nicole
TI Underconnectivity of STS Predicts Socio-Cognitive Deficits in Autism
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE Autism Spectrum Disorders; Functional Magnetic Resonance Imaging;
Functional Connectivity; Superior Temporal Sulcus; Point Light Displays
C1 [Alaerts, Kaat; Di Martino, Adriana] NYU, Ctr Child Study, New York, NY USA.
[Swinnen, Stephan P.] Katholieke Univ Leuven, Movement Control & Neuroplast Res Grp, Louvain, Belgium.
[Wenderoth, Nicole] ETH, Dept Hlth Sci & Technol, Zurich, Switzerland.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 267
BP 87S
EP 87S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800267
ER
PT J
AU Schaer, M
Eliez, S
Scariati, E
Glaser, B
AF Schaer, Marie
Eliez, Stephan
Scariati, Elisa
Glaser, Bronwyn
TI Decreased Frontal Gyrification Associated with Altered Connectivity in
Children with Autism
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE autism; neuroimaging; gyrification; connectivity; tractography
C1 [Schaer, Marie; Eliez, Stephan; Scariati, Elisa; Glaser, Bronwyn] Off Medicopedag, Dept Psychiat, Geneva, Switzerland.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 268
BP 87S
EP 88S
PG 2
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800268
ER
PT J
AU Hardan, AY
Hallmayer, J
Lazzeroni, L
Berquist, S
Raman, MR
Patnaik, S
Phillips, J
Reiss, AL
Cleveland, S
AF Hardan, Antonio Y.
Hallmayer, Joachim
Lazzeroni, Laura
Berquist, Sean
Raman, Mira R.
Patnaik, Sweta
Phillips, Jennifer
Reiss, Allan L.
Cleveland, Susan
TI Structural MRI Investigations in Twins with Autism
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE Autism; MRI; Structural; Youth
C1 [Hardan, Antonio Y.; Hallmayer, Joachim; Lazzeroni, Laura; Berquist, Sean; Raman, Mira R.; Patnaik, Sweta; Phillips, Jennifer; Reiss, Allan L.; Cleveland, Susan] Stanford Univ, Stanford, CA 94305 USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 269
BP 88S
EP 88S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800269
ER
PT J
AU Schreiner, MJ
Karlsgodt, KH
Chow, C
Jonas, RK
Montojo, C
Jalbrzikowski, M
Bearden, CE
AF Schreiner, Matthew J.
Karlsgodt, Katherine H.
Chow, Carolyn
Jonas, Rachel K.
Montojo, Caroline
Jalbrzikowski, Maria
Bearden, Carrie E.
TI 22Q11.2 Deletion Syndrome and the Resting State: An Investigation of
Functional Connectivity in the Default Mode Network and its Association
with Social Behavior
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE Velocardiofacial syndrome; Autism Spectrum disorder; Schizophrenia;
Reciprocal social behavior; Default Mode Network
C1 [Schreiner, Matthew J.; Jonas, Rachel K.] Univ Calif Los Angeles, Neurosci Interdept Program, Los Angeles, CA USA.
[Schreiner, Matthew J.; Chow, Carolyn; Jonas, Rachel K.; Montojo, Caroline; Bearden, Carrie E.] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Los Angeles, CA USA.
[Karlsgodt, Katherine H.] Zucker Hillside Hosp, Dept Psychiat, Glen Oaks, NY USA.
[Jalbrzikowski, Maria; Bearden, Carrie E.] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90024 USA.
RI Karlsgodt, Katherine/H-2964-2013
OI Karlsgodt, Katherine/0000-0003-3332-4231
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 272
BP 88S
EP 89S
PG 2
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800271
ER
PT J
AU Corbett, BA
Schupp, CW
AF Corbett, Blythe A.
Schupp, Clayton W.
TI Comprehensive Investigation of the Cortisol Awakening Response in
Children with Autism
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE cortisol; autism; diurnal rhythm; HPA axis; children
C1 [Corbett, Blythe A.] Vanderbilt Univ, Nashville, TN USA.
[Schupp, Clayton W.] Canc Prevent Inst Calif, CPIC, Fremont, CA USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 298
BP 96S
EP 97S
PG 2
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800297
ER
PT J
AU Hollocks, MJ
Papadopoulos, A
Howlin, P
Simonoff, E
AF Hollocks, Matthew J.
Papadopoulos, Andrew
Howlin, Patricia
Simonoff, Emily
TI The Physiological Correlates of Anxiety in Autism Spectrum Disorders
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE Autism; Anxiety; Stress; Cortisol; Heart Rate
C1 [Hollocks, Matthew J.; Papadopoulos, Andrew; Howlin, Patricia; Simonoff, Emily] Kings Coll London, Inst Psychiat, London WC2R 2LS, England.
RI Howlin, Patricia/A-7622-2011
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 296
BP 96S
EP 96S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800295
ER
PT J
AU Teixeira, AL
Rodrigues, DH
Rocha, NP
Sousa, LF
Barbosa, IG
Kummer, A
AF Teixeira, Antonio L.
Rodrigues, David H.
Rocha, Natalia P.
Sousa, Larissa F.
Barbosa, Izabela G.
Kummer, Arthur
TI Changes in Adipokine Levels in Autism Spectrum Disorders
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE Autism; Adipokines; Cytokines; Immunology
C1 [Teixeira, Antonio L.; Rodrigues, David H.; Rocha, Natalia P.; Sousa, Larissa F.; Barbosa, Izabela G.; Kummer, Arthur] Univ Fed Minas Gerais, Belo Horizonte, MG, Brazil.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 297
BP 96S
EP 96S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800296
ER
PT J
AU Hazlett, HC
AF Hazlett, Heather C.
TI Early Brain Development in Infants at High Risk for Autism Spectrum
Disorder
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE neurodevelopment; autism; neuroimaging; sMRI
C1 [Hazlett, Heather C.] Univ N Carolina, Chapel Hill, NC USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 357
BP 115S
EP 115S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800353
ER
PT J
AU Bearden, CE
AF Bearden, Carrie E.
TI Molecular Profile of 22Q11DS Reveals Unique Biological Pathways
Associated with Autism Spectrum and Psychosis
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE gene expression; psychosis; autism spectrum disorder; neurodevelopment;
22q11.2 deletion syndrome
C1 [Bearden, Carrie E.] Univ Calif Los Angeles, Los Angeles, CA USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 422
BP 136S
EP 136S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800418
ER
PT J
AU Sikich, L
Alderman, C
Hazzard, L
Bethea, TC
Gregory, S
Johnson, J
AF Sikich, Linmarie
Alderman, Cheryl
Hazzard, Lindsey
Bethea, Terrence C.
Gregory, Simon
Johnson, Jacqueline
TI Pilot Study of Sustained Oxytocin Treatment in Children and Adolescents
with Autistic Disorder
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE Autism; Oxytocin; Clinical Trial; Social deficits; pediatric
C1 [Sikich, Linmarie; Alderman, Cheryl; Hazzard, Lindsey; Bethea, Terrence C.; Johnson, Jacqueline] Univ N Carolina, Chapel Hill, NC USA.
[Gregory, Simon] Duke Univ, Med Ctr, Durham, NC USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 450
BP 145S
EP 145S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800446
ER
PT J
AU Wiggins, JL
Swartz, JR
Martin, DM
Lord, C
Monk, CS
AF Wiggins, Jillian Lee
Swartz, Johnna R.
Martin, Donna M.
Lord, Catherine
Monk, Christopher S.
TI The Impact of Serotonin Transporter Genotype on Amygdala Habituation in
Youth with Autism Spectrum Disorders
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE autism; serotonin transporter; face; amygdala; habituation
C1 [Wiggins, Jillian Lee; Swartz, Johnna R.; Martin, Donna M.; Monk, Christopher S.] Univ Michigan, Ann Arbor, MI 48109 USA.
[Lord, Catherine] Weill Cornell Med Coll, New York, NY USA.
[Monk, Christopher S.] Univ Michigan, Ctr Human Growth & Dev, Ann Arbor, MI 48109 USA.
RI Monk, Christopher/J-1805-2014
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 453
BP 146S
EP 146S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800449
ER
PT J
AU Morrow, EM
Gamsiz, ED
Viscidi, EW
Nagpal, S
Triche, EW
Istrail, S
AF Morrow, Eric M.
Gamsiz, Ece D.
Viscidi, Emma W.
Nagpal, Shailender
Triche, Elizabeth W.
Istrail, Sorin
CA Simons Simplex Collection Genetics
TI Intellectual Disability is Associated with Increased
Runs-of-Homozygosity in Simplex Autism
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE autism; genetics; homozygosity; autosomal recessive; intellectual
disability
C1 [Morrow, Eric M.; Gamsiz, Ece D.; Viscidi, Emma W.; Nagpal, Shailender] Brown Univ, Inst Brain Sci, Providence, RI 02912 USA.
[Triche, Elizabeth W.; Istrail, Sorin] Brown Univ, Providence, RI 02912 USA.
RI Morrow, Eric/J-2767-2013
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 454
BP 147S
EP 147S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800450
ER
PT J
AU Skafidas, E
Testa, R
Zantomio, D
Chana, G
Everall, IP
Pantelis, C
AF Skafidas, Efstratios
Testa, Renee
Zantomio, Daniela
Chana, Gursharan
Everall, Ian P.
Pantelis, Christos
TI Genetic Factors Identifying Risk and Resilience in Autism Spectrum
Disorders
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE autistic disorder/diagnosis; childhood development disorders; predictive
testing; risk markers; resilience markers
C1 [Skafidas, Efstratios] Univ Melbourne, Ctr Neural Engn, Parkville, Vic 3052, Australia.
[Testa, Renee; Pantelis, Christos] Univ Melbourne, Dept Psychiat, Melbourne Neuropsychiat Ctr, Parkville, Vic 3052, Australia.
[Testa, Renee; Pantelis, Christos] Melbourne Hlth, Parkville, Vic, Australia.
[Zantomio, Daniela] Austin Hlth, Dept Haematol, Heidelberg, Vic, Australia.
[Chana, Gursharan; Everall, Ian P.] Univ Melbourne, Dept Psychiat, Parkville, Vic 3052, Australia.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 455
BP 147S
EP 147S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671800451
ER
PT J
AU Berner, JE
AF Berner, Jon E.
TI Marijuana Use in Chronic Pain Patients Inversely Correlates with the
Density of Comorbid Autistic Traits
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 68th Annual Scientific Meeting of the Society-of-Biological-Psychiatry
CY MAY 16-18, 2013
CL San Francisco, CA
SP Soc Biol Psychiat
DE pain; autism; cannabinoid; GABA; anxiety
C1 [Berner, Jon E.] Woodinville Psychiat Associates, Woodinville, WA USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2013
VL 73
IS 9
SU S
MA 1000
BP 320S
EP 320S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 140RE
UT WOS:000318671801308
ER
PT J
AU Nordahl, CW
Braunschweig, D
Iosif, AM
Lee, A
Rogers, S
Ashwood, P
Amaral, DG
Van de Water, J
AF Nordahl, Christine Wu
Braunschweig, Daniel
Iosif, Ana-Maria
Lee, Aaron
Rogers, Sally
Ashwood, Paul
Amaral, David G.
Van de Water, Judy
TI Maternal autoantibodies are associated with abnormal brain enlargement
in a subgroup of children with autism spectrum disorder
SO BRAIN BEHAVIOR AND IMMUNITY
LA English
DT Article
DE Autism spectrum disorder; MRI; Structural neuroimaging; Maternal
antibody; Autoantibody
ID DIAGNOSTIC OBSERVATION SCHEDULE; MRI; INDIVIDUALS; ANTIBODIES; GROWTH
AB Autism spectrum disorder (ASD) is very heterogeneous and multiple subtypes and etiologies likely exist. The maternal immune system has been implicated in the pathogenesis of some forms of ASD. Previous studies have identified the presence of specific maternal IgG autoantibodies with reactivity to fetal brain proteins at 37 and 73 kDa in up to 12% of mothers of children with ASD. The current study evaluates the presence of these autoantibodies in an independent cohort of mothers of 181 preschool-aged male children (131 ASD, 50 typically developing (TD) controls). We also investigated whether ASD children born to mothers with these autism-specific maternal IgG autoantibodies exhibit a distinct neural phenotype by evaluating total brain volume using structural magnetic resonance imaging (MRI). Of the 131 ASD children, 10 (7.6%) were born to mothers with the 37/73 kDa IgG autoantibodies (ASD-IgG). The mothers of the remaining ASD children and all TD controls were negative for these paired autoantibodies. While both ASD groups exhibited abnormal brain enlargement that is commonly observed in this age range, the ASD-IgG group exhibited a more extreme 12.1% abnormal brain enlargement relative to the TD controls. In contrast, the remaining ASD children exhibited a smaller 4.4% abnormal brain enlargement relative to TD controls. Lobar and tissue type analyses revealed that the frontal lobe is selectively enlarged in the ASD-IgG group and that both gray and white matter are similarly affected. These results suggest that maternal autoantibodies associated with autism spectrum disorder may impact brain development leading to abnormal enlargement. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Nordahl, Christine Wu; Rogers, Sally; Ashwood, Paul; Amaral, David G.; Van de Water, Judy] Univ Calif Davis, MIND Inst, Sch Med, Sacramento, CA 95817 USA.
[Nordahl, Christine Wu; Lee, Aaron; Rogers, Sally; Amaral, David G.] Univ Calif Davis, Sch Med, Dept Psychiat & Behav Sci, Sacramento, CA 95817 USA.
[Braunschweig, Daniel; Ashwood, Paul; Van de Water, Judy] Univ Calif Davis, Sch Med, Dept Internal Med, Davis, CA 95616 USA.
[Iosif, Ana-Maria] Univ Calif Davis, Div Biostat, Dept Publ Hlth Sci, Davis, CA 95616 USA.
RP Nordahl, CW (reprint author), Univ Calif Davis, MIND Inst, 2805 50th St, Sacramento, CA 95817 USA.
EM crswu@ucdavis.edu
FU NIMH [R01MH089626, U24MH081810, R00MH085099]; UC Davis M.I.N.D.
Institute
FX Funding was provided by the NIMH (R01MH089626, U24MH081810, R00MH085099)
and the UC Davis M.I.N.D. Institute. The authors would like to
acknowledge the Autism Phenome Project staff for helping in the
logistics of family visits and data collection. We especially thank all
of the families and children who participated in the study.
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NR 29
TC 14
Z9 14
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0889-1591
J9 BRAIN BEHAV IMMUN
JI Brain Behav. Immun.
PD MAY
PY 2013
VL 30
BP 61
EP 65
DI 10.1016/j.bbi.2013.01.084
PG 5
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA 142YT
UT WOS:000318834200009
PM 23395715
ER
PT J
AU Tang, B
Jia, HQ
Kast, RJ
Thomas, EA
AF Tang, Bin
Jia, Haiqun
Kast, Ryan J.
Thomas, Elizabeth A.
TI Epigenetic changes at gene promoters in response to immune activation in
utero
SO BRAIN BEHAVIOR AND IMMUNITY
LA English
DT Article
DE Histone; Gene expression; Schizophrenia; Psychiatric; Glutamate; Immune;
Neurodevelopment
ID FETAL-BRAIN; PSYCHIATRIC-DISORDERS; HUNTINGTONS-DISEASE; DNA
MICROARRAYS; MESSENGER-RNAS; SCHIZOPHRENIA; INTERLEUKIN-6; EXPRESSION;
MODELS; CELLS
AB Increasing evidence suggests that maternal infection increases the risk of psychiatric disorders, such as schizophrenia and autism in offspring. However, the molecular mechanisms associated with these effects are unclear. Here, we have studied epigenetic gene regulation in mice exposed to non-specific immune activation elicited by polyI:C injection to pregnant dams. Using Western blot analysis, we detected global hypoacetylation of histone H3, at lysine residues 9 and 14, and histone H4, at lysine residue 8, in the cortex from juvenile (similar to 24 days of age) offspring exposed to polyI:C in utero, but not from adult (3 months of age) offspring, which exhibit significant behavioral abnormalities. Accordingly, we detected robust deficits in the expression of genes associated with neuronal development, synaptic transmission and immune signaling in the cortex of polyI:C-exposed juvenile mice. In particular, we found that several genes in the glutamate receptor signaling pathway, including Gria1 and Slc17a7, showed decreases in promoter-specific histone acetylation, and corresponding gene expression deficits, in polyI:C-exposed offspring at both juvenile and adult ages. In contrast, the expression of these same genes, in addition to Disci and Ntrk3, was elevated in the hippocampus of juvenile mice, in concordance with elevated levels of promoter-specific histone acetylation. We suggest that these early epigenetic changes contribute to the delayed behavioral abnormalities that are observed in adult animals after exposure to polyI:C, and which resemble symptoms seen in schizophrenia and related disorders. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Tang, Bin; Jia, Haiqun; Kast, Ryan J.; Thomas, Elizabeth A.] Scripps Res Inst, Dept Mol Biol, La Jolla, CA 92037 USA.
RP Thomas, EA (reprint author), Scripps Res Inst, Dept Mol Biol, SP-2030,10550 N Torrey Pines Rd, La Jolla, CA 92037 USA.
EM bthomas@scripps.edu
RI Jia, Haiqun/B-1305-2012
OI Jia, Haiqun/0000-0003-1606-4861
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NR 59
TC 10
Z9 10
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0889-1591
J9 BRAIN BEHAV IMMUN
JI Brain Behav. Immun.
PD MAY
PY 2013
VL 30
BP 168
EP 175
DI 10.1016/j.bbi.2013.01.086
PG 8
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA 142YT
UT WOS:000318834200022
PM 23402795
ER
PT J
AU Goodwin, H
AF Goodwin, Hayley
TI Working with parents of newly diagnosed child with an autism spectrum
disorder: a guide for professionals
SO BRITISH JOURNAL OF OCCUPATIONAL THERAPY
LA English
DT Book Review
CR Keen D, 2012, WORKING PARENTS NEWL
NR 1
TC 0
Z9 0
PU COLL OCCUPATIONAL THERAPISTS LTD
PI SOUTHWARK
PA 106-114 BOROUGH HIGH ST, SOUTHWARK, LONDON SE1 1LB, ENGLAND
SN 0308-0226
J9 BRIT J OCCUP THER
JI Br. J. Occup. Ther.
PD MAY
PY 2013
VL 76
IS 5
BP 249
EP 249
PG 1
WC Rehabilitation
SC Rehabilitation
GA 146JF
UT WOS:000319086700009
ER
PT J
AU Berry-Kravis, E
Doll, E
Sterling, A
Kover, ST
Schroeder, SM
Mathur, S
Abbeduto, L
AF Berry-Kravis, Elizabeth
Doll, Emily
Sterling, Audra
Kover, Sara T.
Schroeder, Susen M.
Mathur, Shaguna
Abbeduto, Leonard
TI Development of an Expressive Language Sampling Procedure in Fragile X
Syndrome: A Pilot Study
SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
LA English
DT Article
DE fragile X syndrome; FMR1; expressive language; outcome measure; autistic
disorder
ID DOWN-SYNDROME; CHILDREN; ADOLESCENTS; PROFILES; AUTISM; LENGTH; TRIAL;
GENE
AB Objective: There is a great need for valid outcome measures of functional improvement for impending clinical trials of targeted interventions for fragile X syndrome (FXS). Families often report conversational language improvement during clinical treatment, but no validated measures exist to quantify this outcome. This small-scale study sought to determine the feasibility, reproducibility, and clinical validity of highly structured expressive language sampling as an outcome measure reflecting language ability. Methods: Narrative and conversation tasks were administered to 36 verbal participants (25 males and 11 females) with FXS (aged 5-36 years, mean, 18 +/- 7 years). Alternate versions were used with randomized task order at 2- to 3-week intervals (mean, 19.6 +/- 6.4 days). Audio recordings of sessions were transcribed and analyzed. Dependent measures reflected talkativeness (total number of utterances), utterance planning (proportion of communication [C] units with mazes), articulation (proportion of unintelligible/partly unintelligible C-units), vocabulary (number of different word roots), and syntactic ability (mean length of utterance [MLU] in words). Reproducibility of measures was evaluated with intraclass correlation coefficients (ICC). Results: All participants could complete the tasks. Coded data were highly reproducible with Pearson's correlations at p < .01 for all measures and ICC values of .911 to .966 (conversation) and .728 to .940 (narration). Some measures including MLU and different word roots were correlated with expressive language subscale scores from the Vineland Adaptive Behavior Scale. Conclusions: These expressive language sampling tasks appear to be feasible, reproducible, and clinically valid and should be further validated in a larger cohort, as a promising means of assessing functional expressive language outcomes during clinical trials in FXS.
C1 [Berry-Kravis, Elizabeth] Rush Univ, Med Ctr, Dept Pediat Neurol Sci & Biochem, Chicago, IL 60612 USA.
[Doll, Emily] Rush Univ, Med Ctr, Sch Med, Chicago, IL 60612 USA.
[Sterling, Audra; Schroeder, Susen M.] Univ Wisconsin, Waisman Ctr, Madison, WI 53705 USA.
[Sterling, Audra; Kover, Sara T.] Univ Wisconsin, Dept Commun Sci & Disorders, Madison, WI USA.
[Mathur, Shaguna] Rush Univ, Med Ctr, Dept Pediat, Chicago, IL 60612 USA.
[Abbeduto, Leonard] Univ Calif Davis, Sch Med, MIND Inst, Sacramento, CA 95817 USA.
RP Berry-Kravis, E (reprint author), Rush Univ, Med Ctr, 1725 West Harrison,Suite 718, Chicago, IL 60612 USA.
EM elizabeth_m_berry-kravis@rush.edu
FU National Fragile X Foundation; FRAXA Research Foundation, a Rush
University Summer Student Deans Fellowship; National Institutes of
Health [R01HD024356]
FX This work was supported in part by summer student funding from the
National Fragile X Foundation and the FRAXA Research Foundation, a Rush
University Summer Student Deans Fellowship to E. Doll, and by National
Institutes of Health grant R01HD024356 awarded to L. Abbeduto. For the
remaining authors, no conflicts of interest or sources of funding were
declared.
CR Abbeduto L, 2010, HANDBOOK OF MEDICAL NEUROPSYCHOLOGY: APPLICATIONS OF COGNITIVE NEUROSCIENCE, P193, DOI 10.1007/978-1-4419-1364-7_11
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Mayer M., 1974, FROG GOES DINNER
Mervis CB, 2005, APPL PSYCHOLINGUIST, V26, P41, DOI 10.1017/S0142716405050058
Miller J., 2008, SYSTEMATIC ANAL LANG
Oostra BA, 2009, BBA-GEN SUBJECTS, V1790, P467, DOI 10.1016/j.bbagen.2009.02.007
Rice ML, 2006, J SPEECH LANG HEAR R, V49, P793, DOI 10.1044/1092-4388(2006/056)
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NR 30
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0196-206X
J9 J DEV BEHAV PEDIATR
JI J. Dev. Behav. Pediatr.
PD MAY
PY 2013
VL 34
IS 4
BP 245
EP 251
DI 10.1097/DBP.0b013e31828742fc
PG 7
WC Behavioral Sciences; Psychology, Developmental; Pediatrics
SC Behavioral Sciences; Psychology; Pediatrics
GA 146BZ
UT WOS:000319065100004
PM 23669871
ER
PT J
AU Berube, M
Hubbard, C
Mallory, L
Larsen, E
Morrison, P
Augustyn, M
AF Berube, Megan
Hubbard, Carol
Mallory, Leah
Larsen, Eric
Morrison, Peter
Augustyn, Marilyn
TI Historic Condition in a Modern Child with Autism
SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
LA English
DT Editorial Material
DE autism; developmental pediatrics; mental retardation/intellectual
disability; neurology; behavior; nutrition
ID SPECTRUM DISORDERS; FOOD SELECTIVITY
AB CASE: Haven is an 11-year-old primary care patient who you have followed since her birth. She was the 9 lb 6 oz product of a 38-week gestation complicated by maternal hypertension and seizure disorder treated with tegretol. Her delivery and neonatal course were uneventful. She was diagnosed with austistic disorder at age 2 years, at which time she used no functional language or gestures, had repetitive motor mannerisms, and limited eye contact. She had strong tactile sensory aversions. Her diet was very restricted including only banana yogurt and drinking milk and apple juice for the first several years of life.
She was followed by a developmental-behavioral pediatrician approximately annually through age 8 years and then more frequently. She was healthy other than lead exposure (maximum serum level 18 at age 3 years) and multiple febrile seizures with other possible absence episodes. Her development remained very delayed with use of single words and short phrases. She developed multiple repetitive, anxious, obsessive behaviors (picking up lint, organizing, cleaning, and freezing in certain postures) that were treated with a selective serotonin reuptake inhibitors fluvoxamine. Sensory issues were ongoing, with restrictive eating (primarily peanut butter and jelly sandwiches, cereal bars, milk, and a kiwi-strawberry drink). She took a liquid multivitamin until age 8.
At age 11 years, 3 weeks prior to admission, Haven developed acute loss of ambulation over the course of 1 day, initially dragging her right leg, and then refusing to walk and her parents brought her in to see you. She had fever, vomiting, and general weakness. She developed extensive bruising over her legs, especially in the popliteal fossae. She was also noted to have friability and dark discoloration of her gums. Initially, you suspected a post-viral syndrome and close monitoring.
She was seen twice in the next 2 weeks in a local emergency room where her erythrocyte sedimentation rate was reported to be elevated and juvenile rheumatoid arthritis or a reaction to fluvoxamine were suspected. Antibiotics were also prescribed for gingivitis. She was seen by an orthopedist who felt it was not an orthopedic issue and leg films were unremarkable. With her second emergency room visit, she was transferred to a tertiary medical center and admitted for further evaluation. Where would you go from here?
C1 [Berube, Megan; Hubbard, Carol; Mallory, Leah; Larsen, Eric; Morrison, Peter] Maine Med Ctr, Dept Pediat, Portland, ME 04102 USA.
[Augustyn, Marilyn] Boston Univ, Sch Med, Dept Pediat, Div Dev & Behav Pediat, Boston, MA 02215 USA.
RP Berube, M (reprint author), Maine Med Ctr, Dept Pediat, Portland, ME 04102 USA.
CR Bandini LG, 2010, J PEDIATR-US, V157, P259, DOI 10.1016/j.jpeds.2010.02.013
Cermak SA, 2010, J AM DIET ASSOC, V110, P238, DOI 10.1016/j.jada.2009.10.032
Hyman Susan L, 2012, Pediatrics, V130 Suppl 2, pS145, DOI 10.1542/peds.2012-0900L
NR 3
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0196-206X
EI 1536-7312
J9 J DEV BEHAV PEDIATR
JI J. Dev. Behav. Pediatr.
PD MAY
PY 2013
VL 34
IS 4
BP 288
EP 290
DI 10.1097/DBP.0b013e31829094bb
PG 3
WC Behavioral Sciences; Psychology, Developmental; Pediatrics
SC Behavioral Sciences; Psychology; Pediatrics
GA 146BZ
UT WOS:000319065100010
PM 23669873
ER
PT J
AU Maffie, JK
Dvoretskova, E
Bougis, PE
Martin-Eauclaire, MF
Rudy, B
AF Maffie, Jon K.
Dvoretskova, Elena
Bougis, Pierre Edouard
Martin-Eauclaire, Marie-France
Rudy, Bernardo
TI Dipeptidyl-peptidase-like-proteins confer high sensitivity to the
scorpion toxin AmmTX3 to Kv4-mediated A-type K+ channels
SO JOURNAL OF PHYSIOLOGY-LONDON
LA English
DT Article
ID CEREBELLAR GRANULE CELLS; KV4.2 POTASSIUM CHANNELS; PYRAMIDAL NEURONS;
BETA-SUBUNIT; CURRENTS; EXCITABILITY; MODULATION; BRAIN; PLASTICITY;
DENDRITES
AB Key points center dot AmmTX3, a member of the -KTX15 family of scorpion toxins, efficiently and specifically blocks the subthreshold-operating A-type K+ current in cerebellar granule neurons from wild-type mice but not in neurons from mice lacking the Kv4 channel-associated protein DPP6. center dot In heterologous cells high-affinity blockade of Kv4.2 and Kv4.3 channels by AmmTX3 requires the presence of the associated proteins DPP6 and DPP10. center dot These results validate AmmTX3 as a specific blocker of Kv4 channels in CNS neurons and explain the discrepancy between previous observations in neurons and heterologous cells. center dot They contribute a powerful tool to investigate the physiological role of A-type K+ currents, believed to be important in dendritic integration and plasticity and to be involved in a number of diseases. center dot Our results demonstrate that, in addition to changing the kinetics and voltage dependence of Kv4 channel complexes, DDP-like Kv4-associated proteins also affect their pharmacological profile. Abstract K+ channels containing Kv4.2 and Kv4.3 pore-forming subunits mediate most of the subthreshold-operating somatodendritic A-type K+ current in CNS neurons. These channels are believed to be important in regulating the frequency of repetitive firing, the backpropagation of action potential into dendrites, and dendritic integration and plasticity. Moreover, they have been implicated in several diseases from pain to epilepsy and autism spectrum disorders. The lack of toxins that specifically and efficiently block these channels has hampered studies aimed at confirming their functional role and their involvement in disease. AmmTX3 and other related members of the -KTX15 family of scorpion toxins have been shown to block the A-type K+ current in cultured neurons, but their specificity has been questioned because the toxins do not efficiently block the currents mediated by Kv4.2 or Kv4.3 subunits expressed in heterologous cells. Here we show that the high-affinity blockade of Kv4.2 and Kv4.3 channels by AmmTX3 depends on the presence of the auxiliary subunits DPP6 and DPP10. These proteins are thought to be components of the Kv4 channel complex in neurons and to be important for channel expression in dendrites. These studies validate the use of AmmTX3 as a blocker of the Kv4-mediated A-type K+ current in neurons.
C1 [Maffie, Jon K.; Dvoretskova, Elena; Rudy, Bernardo] NYU Sch Med, Smilow Neurosci Program, Dept Physiol & Neurosci, NYU Neurosci Inst, New York, NY 10016 USA.
[Bougis, Pierre Edouard; Martin-Eauclaire, Marie-France] Aix Marseille Univ, Fac Med Nord, CNRS UMR 7286, CRN2M, F-13344 Marseille 15, France.
RP Rudy, B (reprint author), NYU Sch Med, Smilow Neurosci Program, 522 1st Ave, New York, NY 10016 USA.
EM pierre-edouard.bougis@univ-amu.fr; rudyb01@med.nyu.edu
FU NINDS [NS04517, F30 NS071660]
FX `We thank Dr Chiung-Yin Chung and Dr Brigitte Ceard for their skilful
technical assistance. We thank the reviewers of this paper for their
constructive suggestions. This work was supported by NINDS grants
NS04517 to BR, F30 NS071660 to J.M. The authors declare no competing
financial interests.
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NR 37
TC 8
Z9 8
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0022-3751
J9 J PHYSIOL-LONDON
JI J. Physiol.-London
PD MAY
PY 2013
VL 591
IS 10
BP 2419
EP 2427
DI 10.1113/jphysiol.2012.248831
PG 9
WC Neurosciences; Physiology
SC Neurosciences & Neurology; Physiology
GA 145LB
UT WOS:000319016200008
PM 23440961
ER
PT J
AU Paciorkowski, AR
Traylor, RN
Rosenfeld, JA
Hoover, JM
Harris, CJ
Winter, S
Lacassie, Y
Bialer, M
Lamb, AN
Schultz, RA
Berry-Kravis, E
Porter, BE
Falk, M
Venkat, A
Vanzo, RJ
Cohen, JS
Fatemi, A
Dobyns, WB
Shaffer, LG
Ballif, BC
Marsh, ED
AF Paciorkowski, Alex R.
Traylor, Ryan N.
Rosenfeld, Jill A.
Hoover, Jacqueline M.
Harris, Catharine J.
Winter, Susan
Lacassie, Yves
Bialer, Martin
Lamb, Allen N.
Schultz, Roger A.
Berry-Kravis, Elizabeth
Porter, Brenda E.
Falk, Marni
Venkat, Anu
Vanzo, Rena J.
Cohen, Julie S.
Fatemi, Ali
Dobyns, William B.
Shaffer, Lisa G.
Ballif, Blake C.
Marsh, Eric D.
TI MEF2C Haploinsufficiency features consistent hyperkinesis, variable
epilepsy, and has a role in dorsal and ventral neuronal developmental
pathways
SO NEUROGENETICS
LA English
DT Article
DE MEF2C haploinsufficiency; Intellectual disability; Autism; Infant-onset
myoclonic epilepsy; Infantile spasms; Hyperkinesis; Deletion 5q14.3
ID SEVERE MENTAL-RETARDATION; TRANSCRIPTION FACTOR MEF2C; MICRODELETION
SYNDROME; INFANTILE SPASMS; GENE-EXPRESSION; RETT-SYNDROME; PHENOTYPE;
DELETION; ARX; IDENTIFICATION
AB MEF2C haploinsufficiency syndrome is an emerging neurodevelopmental disorder associated with intellectual disability, autistic features, epilepsy, and abnormal movements. We report 16 new patients with MEF2C haploinsufficiency, including the oldest reported patient with MEF2C deletion at 5q14.3. We detail the neurobehavioral phenotype, epilepsy, and abnormal movements, and compare our subjects with those previously reported in the literature. We also investigate Mef2c expression in the developing mouse forebrain. A spectrum of neurofunctional deficits emerges, with hyperkinesis a consistent finding. Epilepsy varied from absent to severe, and included intractable myoclonic seizures and infantile spasms. Subjects with partial MEF2C deletion were statistically less likely to have epilepsy. Finally, we confirm that Mef2c is present both in dorsal primary neuroblasts and ventral gamma-aminobutyric acid(GABA)ergic interneurons in the forebrain of the developing mouse. Given interactions with several key neurodevelopmental genes such as ARX, FMR1, MECP2, and TBR1, it appears that MEF2C plays a role in several developmental stages of both dorsal and ventral neuronal cell types.
C1 [Paciorkowski, Alex R.] Univ Rochester, Med Ctr, Dept Neurol, Ctr Neural Dev & Dis, Rochester, NY 14642 USA.
[Paciorkowski, Alex R.] Univ Rochester, Med Ctr, Dept Pediat, Ctr Neural Dev & Dis, Rochester, NY 14642 USA.
[Paciorkowski, Alex R.] Univ Rochester, Med Ctr, Dept Biomed Genet, Ctr Neural Dev & Dis, Rochester, NY 14642 USA.
[Traylor, Ryan N.; Rosenfeld, Jill A.; Schultz, Roger A.; Shaffer, Lisa G.; Ballif, Blake C.] PerkinElmer Inc, Signature Genom Labs, Spokane, WA USA.
[Hoover, Jacqueline M.] Childrens Hosp Pittsburgh, Dept Med Genet, Pittsburgh, PA 15213 USA.
[Harris, Catharine J.] Univ Missouri, Dept Child Hlth, Div Med Genet, Columbia, MO 65201 USA.
[Winter, Susan] Childrens Hosp Cent Calif, Dept Med Genet Metab, Madera, CA USA.
[Lacassie, Yves] Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, New Orleans, LA USA.
[Lacassie, Yves] Childrens Hosp, New Orleans, LA USA.
[Bialer, Martin] North Shore Long Isl Jewish Hlth Syst, Div Med Genet, New Hyde Pk, NY USA.
[Lamb, Allen N.] Univ Utah, ARUP Labs, Salt Lake City, UT USA.
[Berry-Kravis, Elizabeth] Rush Univ, Dept Pediat, Med Ctr, Chicago, IL 60612 USA.
[Berry-Kravis, Elizabeth] Rush Univ, Dept Neurol Sci, Med Ctr, Chicago, IL 60612 USA.
[Berry-Kravis, Elizabeth] Rush Univ, Dept Biochem, Med Ctr, Chicago, IL 60612 USA.
[Porter, Brenda E.] Stanford Univ, Dept Neurol, Stanford, CA 94305 USA.
[Falk, Marni] Childrens Hosp Philadelphia, Dept Med Genet, Philadelphia, PA 19104 USA.
[Venkat, Anu; Marsh, Eric D.] Childrens Hosp Philadelphia, Dept Neurol, Philadelphia, PA 19104 USA.
[Vanzo, Rena J.] Lineagen Inc, Salt Lake City, UT USA.
[Cohen, Julie S.; Fatemi, Ali] Johns Hopkins Med Inst, Kennedy Krieger Inst, Div Neurogenet, Baltibmore, MD USA.
[Dobyns, William B.] Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA.
[Dobyns, William B.] Seattle Childrens Res Inst, Seattle, WA USA.
RP Paciorkowski, AR (reprint author), Univ Rochester, Med Ctr, Dept Neurol, Ctr Neural Dev & Dis, 601 Elmwood Ave, Rochester, NY 14642 USA.
EM Alex_Paciorkowski@urmc.rochester.edu
FU NINDS [R01 NS058721]
FX WBD is funded by NINDS R01 NS058721; JAR and RAS are employees of
Signature Genomic Laboratories, PerkinElmer; ANL is an employee of ARUP
Laboratories; and RJV is an employee of Lineagen, Inc. The other authors
have no disclosures.
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NR 39
TC 10
Z9 10
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1364-6745
J9 NEUROGENETICS
JI Neurogenetics
PD MAY
PY 2013
VL 14
IS 2
BP 99
EP 111
DI 10.1007/s10048-013-0356-y
PG 13
WC Genetics & Heredity; Clinical Neurology
SC Genetics & Heredity; Neurosciences & Neurology
GA 143QA
UT WOS:000318881100002
PM 23389741
ER
PT J
AU Kong, SW
Shimizu-Motohashi, Y
Campbell, MG
Lee, IH
Collins, CD
Brewster, SJ
Holm, IA
Rappaport, L
Kohane, IS
Kunkel, LM
AF Kong, S. W.
Shimizu-Motohashi, Y.
Campbell, M. G.
Lee, I. H.
Collins, C. D.
Brewster, S. J.
Holm, I. A.
Rappaport, L.
Kohane, I. S.
Kunkel, L. M.
TI Peripheral blood gene expression signature differentiates children with
autism from unaffected siblings
SO NEUROGENETICS
LA English
DT Article
DE Autism spectrum disorders; Unaffected sibling; Simplex family; Gene
expression
ID PERVASIVE DEVELOPMENTAL DISORDERS; LYMPHOBLASTOID CELL-LINES;
COPY-NUMBER VARIATION; RARE DE-NOVO; SPECTRUM DISORDERS; FUNCTIONAL
IMPACT; RECURRENCE RISK; DYSFUNCTION; PATHWAYS; REVEALS
AB Autism spectrum disorder (ASD) is one of the most prevalent neurodevelopmental disorders with high heritability, yet a majority of genetic contribution to pathophysiology is not known. Siblings of individuals with ASD are at increased risk for ASD and autistic traits, but the genetic contribution for simplex families is estimated to be less when compared to multiplex families. To explore the genomic (dis-) similarity between proband and unaffected sibling in simplex families, we used genome-wide gene expression profiles of blood from 20 proband-unaffected sibling pairs and 18 unrelated control individuals. The global gene expression profiles of unaffected siblings were more similar to those from probands as they shared genetic and environmental background. A total of 189 genes were significantly differentially expressed between proband-sib pairs (nominal p < 0.01) after controlling for age, sex, and family effects. Probands and siblings were distinguished into two groups by cluster analysis with these genes. Overall, unaffected siblings were equally distant from the centroid of probands and from that of unrelated controls with the differentially expressed genes. Interestingly, five of 20 siblings had gene expression profiles that were more similar to unrelated controls than to their matched probands. In summary, we found a set of genes that distinguished probands from the unaffected siblings, and a subgroup of unaffected siblings who were more similar to probands. The pathways that characterized probands compared to siblings using peripheral blood gene expression profiles were the up-regulation of ribosomal, spliceosomal, and mitochondrial pathways, and the down-regulation of neuroreceptor-ligand, immune response and calcium signaling pathways. Further integrative study with structural genetic variations such as de novo mutations, rare variants, and copy number variations would clarify whether these transcriptomic changes are structural or environmental in origin.
C1 [Kong, S. W.; Campbell, M. G.; Lee, I. H.; Kohane, I. S.] Boston Childrens Hosp, Harvard Mit Div Hlth Sci & Technol, Informat Program, Boston, MA 02115 USA.
[Shimizu-Motohashi, Y.; Collins, C. D.; Brewster, S. J.; Holm, I. A.; Kunkel, L. M.] Boston Childrens Hosp, Div Genet, Program Genom, Boston, MA 02115 USA.
[Rappaport, L.] Boston Childrens Hosp, Div Dev Med, Boston, MA 02115 USA.
[Kohane, I. S.] Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA 02115 USA.
RP Kunkel, LM (reprint author), Boston Childrens Hosp, Div Genet, Program Genom, Boston, MA 02115 USA.
EM kunkel@enders.tch.harvard.edu
FU Simons Foundation [SFARI 95117]; NIH [5RO1MH085143]
FX This work was supported by a grant from the Simons Foundation (SFARI
95117 to L. M. K. and I. S. K.), and NIH 5RO1MH085143 to L. M. K. We
gratefully acknowledge all the participating families and their
contributions. We are grateful to all of the families at the
participating Simons Simplex Collection (SSC) sites, as well as the
principal investigators (A. Beaudet, R. Bernier, J. Constantino, E.
Cook, E. Fombonne, D. Geschwind, R. Goin-Kochel, E. Hanson, D. Grice, A.
Klin, D. Ledbetter, C. Lord, C. Martin, D. Martin, R. Maxim, J. Miles,
O. Ousley, K. Pelphrey, B. Peterson, J. Piggot, C. Saulnier, M. State,
W. Stone, J. Sutcliffe, C. Walsh, Z. Warren, E. Wijsman). We appreciate
obtaining access to phenotypic data on SFARI Base. Approved researchers
can obtain the SSC population dataset described in this study by
applying at https://base.sfari.org. We are grateful to Heather Harris,
Katherine Lowe, and coordinators and staff for the recruitment and
comprehensive assessment of simplex families and Dr. Ronald Samuels,
Jessica Yi, and Rachel Grant for recruiting the control individuals at
Boston Children's Hospital.
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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 1364-6745
J9 NEUROGENETICS
JI Neurogenetics
PD MAY
PY 2013
VL 14
IS 2
BP 143
EP 152
DI 10.1007/s10048-013-0363-z
PG 10
WC Genetics & Heredity; Clinical Neurology
SC Genetics & Heredity; Neurosciences & Neurology
GA 143QA
UT WOS:000318881100006
PM 23625158
ER
PT J
AU Miller, S
AF Miller, Sarah
TI Gene-based diagnostics for autism spectrum disorder receive funding
boost
SO PERSONALIZED MEDICINE
LA English
DT News Item
NR 0
TC 0
Z9 0
PU FUTURE MEDICINE LTD
PI LONDON
PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3
1QB, ENGLAND
SN 1741-0541
J9 PERS MED
JI Pers. Med.
PD MAY
PY 2013
VL 10
IS 3
BP 229
EP 229
PG 1
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA 141LW
UT WOS:000318727700006
ER
PT J
AU Auyeung, B
Lombardo, MV
Baron-Cohen, S
AF Auyeung, Bonnie
Lombardo, Michael V.
Baron-Cohen, Simon
TI Prenatal and postnatal hormone effects on the human brain and cognition
SO PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
LA English
DT Review
DE Prenatal testosterone; Postnatal testosterone; Testosterone
administration; Oxytocin; Sex differences; Amniotic fluid;
Amniocentesis; Puberty
ID CONGENITAL ADRENAL-HYPERPLASIA; HUMAN SEXUAL DEVELOPMENT; AUTISM
SPECTRUM QUOTIENT; CAST CHILDHOOD ASPERGER; CENTRAL NERVOUS-SYSTEM;
FETAL TESTOSTERONE; NEURAL CIRCUITRY; AMNIOTIC-FLUID; SYSTEMATIZING
QUOTIENT; EXOGENOUS TESTOSTERONE
AB This review examines the role of hormones in the development of social and nonsocial cognition and the brain. Research findings from human studies designed to elucidate the effects of both prenatal and postnatal exposure to hormones in children and young adults are summarized. Effects are found to be both time and dose dependent, with exposure to abnormal hormone levels having a limited impact outside the "critical window" in development. Particular attention is given to the role of prenatal hormone exposure, which appears to be vital for early organization of the brain. In later life, measurements of circulating hormone levels and the administration of testosterone and oxytocin are found to predict behavior, but the effect is thought to be one of "activation" or "fine-tuning" of the early organization of the brain. Possible directions for valuable future research are discussed.
C1 [Auyeung, Bonnie; Lombardo, Michael V.; Baron-Cohen, Simon] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge CB2 8AH, England.
RP Auyeung, B (reprint author), Univ Cambridge, Dept Psychiat, Autism Res Ctr, Douglas House,18B Trumpington Rd, Cambridge CB2 8AH, England.
EM ba251@cam.ac.uk
FU Nancy Lurie Marks Family Foundation; Shirley Foundation; MRC; Wellcome
Trust
FX BA, MVL, and SBC were supported by grants from the Nancy Lurie Marks
Family Foundation, the Shirley Foundation, the MRC, and the Wellcome
Trust during the period of this work. We are grateful to our colleagues
and the families who have taken part in the research over the years.
Parts of this review have been updated from Baron-Cohen, S.,
Tager-Flusberg, H., Lombardo, MV. (eds) Understanding Other Minds
(Oxford University Press).
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NR 145
TC 18
Z9 18
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0031-6768
J9 PFLUG ARCH EUR J PHY
JI Pflugers Arch.
PD MAY
PY 2013
VL 465
IS 5
BP 557
EP 571
DI 10.1007/s00424-013-1268-2
PG 15
WC Physiology
SC Physiology
GA 143MO
UT WOS:000318871800002
PM 23588379
ER
PT J
AU Khanna, R
Jariwala, K
Bentley, JP
AF Khanna, R.
Jariwala, K.
Bentley, J. P.
TI HEALTH UTILITY ASSESSMENT USING EQ-5D AMONG CAREGIVERS OF CHILDREN WITH
AUTISM
SO VALUE IN HEALTH
LA English
DT Meeting Abstract
C1 [Khanna, R.; Bentley, J. P.] Univ Mississippi, University, MS 38677 USA.
[Jariwala, K.] Univ Mississippi, Oxford, MS USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1098-3015
J9 VALUE HEALTH
JI Value Health
PD MAY
PY 2013
VL 16
IS 3
BP A106
EP A106
PG 1
WC Economics; Health Care Sciences & Services; Health Policy & Services
SC Business & Economics; Health Care Sciences & Services
GA 144CE
UT WOS:000318916401049
ER
PT J
AU Shah, D
Giannetti, V
Pfalzgraf, A
AF Shah, D.
Giannetti, V
Pfalzgraf, A.
TI CAREGIVER BURDEN AND SOCIAL SUPPORT IN FAMILIES OF CHILDREN WITH AUTISM:
A LITERATURE REVIEW
SO VALUE IN HEALTH
LA English
DT Meeting Abstract
C1 [Shah, D.; Pfalzgraf, A.] Duquesne Univ, Mylan Sch Pharm, Pittsburgh, PA 15219 USA.
[Giannetti, V] Duquesne Univ, Pittsburgh, PA 15219 USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1098-3015
J9 VALUE HEALTH
JI Value Health
PD MAY
PY 2013
VL 16
IS 3
BP A64
EP A64
PG 1
WC Economics; Health Care Sciences & Services; Health Policy & Services
SC Business & Economics; Health Care Sciences & Services
GA 144CE
UT WOS:000318916400330
PM 23694478
ER
PT J
AU Vohra, R
Madhavan, S
Sambamoorthi, U
AF Vohra, R.
Madhavan, S.
Sambamoorthi, U.
TI DIFFICULTY USING SERVICES FOR CAREGIVERS OF CHILDREN WITH AUTISM
SPECTRUM DISORDERS (ASD)
SO VALUE IN HEALTH
LA English
DT Meeting Abstract
C1 [Vohra, R.] W Virginia Univ, Morgantown, WV 26506 USA.
[Madhavan, S.; Sambamoorthi, U.] W Virginia Univ, Sch Pharm, Morgantown, WV 26506 USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1098-3015
J9 VALUE HEALTH
JI Value Health
PD MAY
PY 2013
VL 16
IS 3
BP A67
EP A68
PG 2
WC Economics; Health Care Sciences & Services; Health Policy & Services
SC Business & Economics; Health Care Sciences & Services
GA 144CE
UT WOS:000318916400348
PM 23694491
ER
PT J
AU [Anonymous]
AF [Anonymous]
TI Neurophysiology Treatment corrects autism in mice
SO BIOFUTUR
LA French
DT News Item
NR 0
TC 0
Z9 0
PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
PI PARIS
PA 23 RUE LINOIS, 75724 PARIS, FRANCE
SN 0294-3506
J9 BIOFUTUR
JI Biofutur
PD MAY
PY 2013
IS 343
BP 13
EP 13
PG 1
WC Biotechnology & Applied Microbiology
SC Biotechnology & Applied Microbiology
GA 141WF
UT WOS:000318756500024
ER
PT J
AU Devine, RT
Hughes, C
AF Devine, Rory T.
Hughes, Claire
TI Silent Films and Strange Stories: Theory of Mind, Gender, and Social
Experiences in Middle Childhood
SO CHILD DEVELOPMENT
LA English
DT Article
ID HIGH-FUNCTIONING AUTISM; FAMILY AFFLUENCE SCALE; FALSE-BELIEF;
INDIVIDUAL-DIFFERENCES; ASPERGER-SYNDROME; PEER RELATIONS; CHILDREN;
LONELINESS; ADULTS; DISSATISFACTION
AB In this study of two hundred and thirty 8- to 13-year-olds, a new Silent Films task is introduced, designed to address the dearth of research on theory of mind in older children by providing a film-based analogue of F. G. E. Happe's (1994) Strange Stories task. Confirmatory factor analysis showed that all items from both tasks loaded onto a single theory-of-mind latent factor. With effects of verbal ability and family affluence controlled, theory-of-mind latent factor scores increased significantly with age, indicating that mentalizing skills continue to develop through middle childhood. Girls outperformed boys on the theory-of-mind latent factor, and the correlates of individual differences in theory of mind were gender specific: Low scores were related to loneliness in girls and to peer rejection in boys.
C1 [Devine, Rory T.; Hughes, Claire] Univ Cambridge, Cambridge CB2 3RF, England.
RP Devine, RT (reprint author), Univ Cambridge, Dept Psychol, Ctr Family Res, Free Sch Lane, Cambridge CB2 3RF, England.
EM rtd24@cam.ac.uk
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NR 61
TC 8
Z9 8
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0009-3920
J9 CHILD DEV
JI Child Dev.
PD MAY-JUN
PY 2013
VL 84
IS 3
BP 989
EP 1003
DI 10.1111/cdev.12017
PG 15
WC Psychology, Educational; Psychology, Developmental
SC Psychology
GA 139ZT
UT WOS:000318624500017
PM 23199139
ER
PT J
AU Miller, S
AF Miller, Sarah
TI Gene-based diagnostics for autism receive funding boost
SO EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
LA English
DT News Item
NR 0
TC 0
Z9 0
PU EXPERT REVIEWS
PI LONDON
PA UNITEC HOUSE, 3RD FL, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON N3 1QB,
ENGLAND
SN 1473-7159
J9 EXPERT REV MOL DIAGN
JI Expert Rev. Mol. Diagn.
PD MAY
PY 2013
VL 13
IS 4
BP 322
EP 322
PG 1
WC Pathology
SC Pathology
GA 139YJ
UT WOS:000318620900005
ER
PT J
AU Kuntoro, IA
Saraswati, L
Peterson, C
Slaughter, V
AF Kuntoro, Ike Anggraika
Saraswati, Liliek
Peterson, Candida
Slaughter, Virginia
TI Micro-cultural influences on theory of mind development: A comparative
study of middle-class and pemulung children in Jakarta, Indonesia
SO INTERNATIONAL JOURNAL OF BEHAVIORAL DEVELOPMENT
LA English
DT Article
DE cultural differences; false belief; Indonesia; socio-economic status;
theory of mind
ID FALSE-BELIEF; AUTISM; METAANALYSIS; LANGUAGE; SIBLINGS; DEAFNESS;
EMOTION; MOTHERS; STEPS
AB We investigated cultural influences on young children's acquisition of social-cognitive concepts. A theory of mind (ToM) scale (Wellman & Liu, 2004) was given to 129 children (71 boys, 58 girls) ranging in age from 3 years 0 months to 7 years 10 months. The children were from three distinct cultural groups: (a) trash pickers (pemulung) living a subsistence lifestyle in Jakarta, Indonesia; (b) middle-class Jakartans living and attending preschools within 5 km of the pemulung group; and (c) middle-class Australians. All children were individually tested in their native language. Cross-group comparisons revealed no significant differences among the three groups in mastery of false belief (the traditional ToM indicator), despite their widely different socio-economic circumstances. However, the pemulung children were slower than the two middle-class groups in mastering two other ToM concepts, namely knowledge access and emotion concealment. These findings shed new light on patterns of cross-cultural consistency in false-belief mastery, as well as revealing cross-cultural variation in other ToM concepts that plausibly reflect variation in children's everyday life circumstances.
C1 [Kuntoro, Ike Anggraika; Saraswati, Liliek] Univ Indonesia, Fac Psychol, Depok 16424, Indonesia.
[Peterson, Candida; Slaughter, Virginia] Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
RP Kuntoro, IA (reprint author), Univ Indonesia, Fac Psychol, Depok 16424, Indonesia.
EM ike.anggraika@ui.ac.id
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NR 35
TC 3
Z9 3
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0165-0254
J9 INT J BEHAV DEV
JI Int. J. Behav. Dev.
PD MAY
PY 2013
VL 37
IS 3
BP 266
EP 273
DI 10.1177/0165025413478258
PG 8
WC Psychology, Developmental
SC Psychology
GA 140IJ
UT WOS:000318647400010
ER
PT J
AU Lu, YH
Wang, N
Jin, F
AF Lu, Yue-hong
Wang, Ning
Jin, Fan
TI Long-term follow-up of children conceived through assisted reproductive
technology
SO JOURNAL OF ZHEJIANG UNIVERSITY-SCIENCE B
LA English
DT Review
DE Assisted reproductive technologies (ART); Children; Follow-up
ID IN-VITRO FERTILIZATION; INTRACYTOPLASMIC SPERM INJECTION; IMPRINTING
CONTROL REGIONS; AUTISM SPECTRUM DISORDERS; POPULATION-BASED COHORT;
DOUBLE EMBRYO-TRANSFER; LOW-BIRTH-WEIGHT; DNA METHYLATION;
CEREBRAL-PALSY; ICSI CHILDREN
AB Children conceived via assisted reproductive technologies (ART) are nowadays a substantial proportion of the population. It is important to follow up these children and evaluate whether they have elevated health risks compared to naturally conceived (NC) children. In recent years there has been a lot of work in this field. This review will summarize what is known about the health of ART-conceived children, encompassing neonatal outcomes, birth defects, growth and gonadal developments, physical health, neurological and neurodevelopmental outcomes, psychosocial developments, risk for cancer, and epigenetic abnormalities. Most of the children conceived after ART are normal. However, there is increasing evidence that ART-conceived children are at higher risk of poor perinatal outcome, birth defects, and epigenetic disorders, and the mechanism(s) leading to these changes have not been elucidated. Continuous follow-up of children after ART is of great importance as they progress through adolescence into adulthood, and new ART techniques are constantly being introduced.
C1 [Lu, Yue-hong; Wang, Ning; Jin, Fan] Zhejiang Univ, Key Lab Reprod Genet Zhejiang, Minist Educ, Hangzhou 310006, Zhejiang, Peoples R China.
[Lu, Yue-hong; Wang, Ning; Jin, Fan] Zhejiang Univ, Ctr Reprod Med, Womens Hosp, Sch Med, Hangzhou 310006, Zhejiang, Peoples R China.
[Lu, Yue-hong] Shaoxing Women & Childrens Hosp, Ctr Reprod Med, Shaoxing 312000, Peoples R China.
RP Jin, F (reprint author), Zhejiang Univ, Key Lab Reprod Genet Zhejiang, Minist Educ, Hangzhou 310006, Zhejiang, Peoples R China.
EM jinfan@zju.edu.cn
FU National Basic Research Program (973) of China [2012CB944901]; National
Natural Science Foundation of China [81070532, 81200475]
FX Project supported by the National Basic Research Program (973) of China
(No. 2012CB944901) and the National Natural Science Foundation of China
(Nos. 81070532 and 81200475)
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NR 124
TC 4
Z9 7
PU ZHEJIANG UNIV
PI HANGZHOU
PA EDITORIAL BOARD, 20 YUGU RD, HANGZHOU, 310027, PEOPLES R CHINA
SN 1673-1581
EI 1862-1783
J9 J ZHEJIANG UNIV-SC B
JI J. Zhejiang Univ.-SCI. B
PD MAY
PY 2013
VL 14
IS 5
BP 359
EP 371
DI 10.1631/jzus.B1200348
PG 13
WC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology;
Medicine, Research & Experimental
SC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology;
Research & Experimental Medicine
GA 139BY
UT WOS:000318557700001
PM 23645173
ER
PT J
AU Sheridan, C
AF Sheridan, Cormac
TI Drugmakers plow more resources into autism
SO NATURE BIOTECHNOLOGY
LA English
DT News Item
CR 2008, CELL, V135, P401
2007, P NATL ACAD SCI, V104, P11489
2009, P NATL ACAD USA, V106, P2029
2011, SCI TRANSL MED, V3
2012, SCI TRANSL MED, V4, P152
2012, SCI TRANSL MED, V4
2012, BRAIN BEHAV IMMUN, V26, P383
NR 7
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1087-0156
J9 NAT BIOTECHNOL
JI Nat. Biotechnol.
PD MAY
PY 2013
VL 31
IS 5
BP 367
EP 369
PG 3
WC Biotechnology & Applied Microbiology
SC Biotechnology & Applied Microbiology
GA 139NM
UT WOS:000318589600003
PM 23657371
ER
PT J
AU Kujala, T
Lepisto, T
Naatanen, R
AF Kujala, T.
Lepisto, T.
Naatanen, R.
TI The neural basis of aberrant speech and audition in autism spectrum
disorders
SO NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
LA English
DT Review
DE Autism spectrum; Asperger syndrome; Mismatch negativity (MMN); P3a;
Speech; Central auditory processing; Event-related potentials
ID EVENT-RELATED POTENTIALS; LANGUAGE-ASSOCIATION CORTEX; HIGH-FUNCTIONING
AUTISM; CEREBRAL-BLOOD-FLOW; ASPERGER-SYNDROME; MISMATCH NEGATIVITY;
CHILDHOOD AUTISM; INFANTILE-AUTISM; INVOLUNTARY ATTENTION; COGNITIVE
DECLINE
AB Autism spectrum disorders (ASD) are characterized by deficits in communication and social behavior and by narrow interests. Individuals belonging to this spectrum have abnormalities in various aspects of language, ranging from semantic-pragmatic deficits to the absence of speech. They also have aberrant perception, especially in the auditory domain, with both hypo- and hypersensitive features. Neurophysiological approaches with high temporal resolution have given novel insight into the processes underlying perception and language in ASD. Neurophysiological recordings, which are feasible for investigating infants and individuals with no speech, have shown that the representation of and attention to language has an abnormal developmental path in ASD. Even the basic mechanisms for fluent speech perception are degraded at a low level of neural speech analysis. Furthermore, neural correlates of perception and some traits typical of subgroups of individuals on this spectrum have helped in understanding the diversity on this spectrum. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Kujala, T.] Univ Helsinki, Cicero Learning, FI-00014 Helsinki, Finland.
[Kujala, T.; Lepisto, T.; Naatanen, R.] Univ Helsinki, Cognit Brain Res Unit, Inst Behav Sci, FI-00014 Helsinki, Finland.
[Lepisto, T.] Univ Helsinki, Dept Child Neurol, Hosp Children & Adolescents, Helsinki 00250, Finland.
[Naatanen, R.] Univ Tartu, Inst Psychol, EE-50090 Tartu, Estonia.
[Naatanen, R.] Univ Aarhus, Ctr Integrat Neurosci CFIN, Aarhus, Denmark.
RP Kujala, T (reprint author), Univ Helsinki, Cicero Learning, POB 9, FI-00014 Helsinki, Finland.
EM teija.m.kujala@helsinki.fi
FU Academy of Finland [128840, 122745]; University of Helsinki
FX This study was supported by the Academy of Finland (grant numbers 128840
and 122745) and the University of Helsinki. We thank Ms. Julie
Uusinarkaus for revising the language of the manuscript.
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NR 101
TC 10
Z9 10
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0149-7634
J9 NEUROSCI BIOBEHAV R
JI Neurosci. Biobehav. Rev.
PD MAY
PY 2013
VL 37
IS 4
BP 697
EP 704
DI 10.1016/j.neubiorev.2013.01.006
PG 8
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 139JX
UT WOS:000318580100011
PM 23313648
ER
PT J
AU Guastella, AJ
Hickie, IB
McGuinness, MM
Otis, M
Woods, EA
Disinger, HM
Chan, HK
Chen, TF
Banati, RB
AF Guastella, Adam J.
Hickie, Ian B.
McGuinness, Margaret M.
Otis, Melissa
Woods, Elizabeth A.
Disinger, Hannah M.
Chan, Hak-Kim
Chen, Timothy F.
Banati, Richard B.
TI Recommendations for the standardisation of oxytocin nasal administration
and guidelines for its reporting in human research
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Review
DE Social cognition; Nasal spray; Bioavailability; Hormone; Peptide; Human;
Blood brain barrier; Absorption; Clinical trials; Methods
ID COMPUTATIONAL FLUID-DYNAMICS; CENTRAL-NERVOUS-SYSTEM; DRUG-DELIVERY;
MUCOCILIARY CLEARANCE; INTRANASAL DELIVERY; PARTICLE DEPOSITION;
IN-VITRO; SPRAY; BRAIN; TRANSPORT
AB A series of studies have reported on the salubrious effects of oxytocin nasal spray on social cognition and behavior in humans, across physiology (e.g., eye gaze, heart rate variability), social cognition (e.g., attention, memory, and appraisal), and behavior (e.g., trust, generosity). Findings suggest the potential of oxytocin nasal spray as a treatment for various psychopathologies, including autism and schizophrenia. There are, however, increasing reports of variability of response to oxytocin nasal spray between experiments and individuals. In this review, we provide a summary of factors that influence transmucosat nasal drug delivery, deposition, and their impact on bioavailability. These include variations in anatomy and resultant airflow dynamic, vascularisation, status of blood vessels, mode of spray application, gallenic formulation (including presence of uptake enhancers, control release formulation), and amount and method of administration. These key variables are generally poorly described and controlled in scientific reports, in spite of their potential to alter the course of treatment outcome studies. Based on this review, it should be of no surprise that differences emerge across individuals and experiments when nasal drug delivery methods are employed. We present recommendations for researchers to use when developing and administering the spray, and guidelines for reporting on peptide nasal spray studies in humans. We hope that these recommendations assist in establishing a scientific standard that can improve the rigor and subsequent reliability of reported effects of oxytocin nasal spray in humans. Crown Copyright (C) 2012 Published by Elsevier Ltd. All rights reserved.
C1 [Guastella, Adam J.; Hickie, Ian B.; McGuinness, Margaret M.; Otis, Melissa; Woods, Elizabeth A.; Disinger, Hannah M.; Banati, Richard B.] Univ Sydney, Brain & Mind Res Inst, Sydney, NSW 2006, Australia.
[McGuinness, Margaret M.; Otis, Melissa] Boston Univ, Fac Arts & Sci, Boston, MA 02215 USA.
[Disinger, Hannah M.] Univ Minnesota, Crookston, MN 55455 USA.
[Woods, Elizabeth A.] Univ Kentucky, Coll Pharm, Lexington, KY 40506 USA.
[Chan, Hak-Kim; Chen, Timothy F.] Univ Sydney, Fac Pharm, Sydney, NSW 2006, Australia.
[Banati, Richard B.] Univ Sydney, Fac Hlth Sci, Lidcombe, NSW 2141, Australia.
[Banati, Richard B.] Australian Nucl Sci & Technol Org, Kirrawee, NSW 2232, Australia.
RP Guastella, AJ (reprint author), Univ Sydney, Brain & Mind Res Inst, Sydney, NSW 2006, Australia.
EM adam.guastella@sydney.edu.au
FU NHMRC [623624, 623625, 1043664]; ARC Linkage grant [LP110100513]; BUPA
health foundation [2012-00004]; NHMRC Australian Fellowship [511921]
FX We would like to thank Daniel Wermeling (University of Kentucky), Anita
Van Zwieten, and Lisa Whittle for comments on this manuscript, and Nigel
Chen for assistance with manuscript preparation. This research was
supported by NHMRC grants (No. 623624, No. 623625, No. 1043664), ARC
Linkage grant (No. LP110100513), and a BUPA health foundation grant (No.
2012-00004) to Guastella. We also acknowledge a NHMRC Australian
Fellowship (No. 511921) to Hickie.
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NR 113
TC 34
Z9 34
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 MAY
PY 2013
VL 38
IS 5
BP 612
EP 625
DI 10.1016/j.psyneuen.2012.11.019
PG 14
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA 137VE
UT WOS:000318465500002
PM 23265311
ER
PT J
AU Ibrahim, KS
El-Sayed, EM
AF Ibrahim, Khadiga S.
El-Sayed, Eman M.
TI Proposed remedies for some developmental disorders
SO TOXICOLOGY AND INDUSTRIAL HEALTH
LA English
DT Article
DE Developmental disorders; vitamins; minerals; herbs; amino acids; fatty
acids
ID GINKGO-BILOBA EXTRACT; NEURAL-TUBE DEFECTS; AUTISTIC SPECTRUM DISORDERS;
ABNORMAL FOLATE METABOLISM; MATERNAL IRON-DEFICIENCY; ESSENTIAL
FATTY-ACIDS; EGB 761 PROTECTS; DOWN-SYNDROME; OXIDATIVE STRESS;
DOUBLE-BLIND
AB Developmental disorders (DDs) are important leading cause of disability in developed countries and also in the United States. DDs are a group of individual conditions that result from abnormal nervous system development and cause altered function. They can begin at any time from prenatal to 22 years of age and the disability usually presents itself throughout a person's life time. Down syndrome, autism, neural tube defects, schizophrenia, cretinism, and attention-deficit hyperactivity disorder are among the most common DDs that currently plague numerous countries and have varying incidence rates. Their occurrence may be partially attributable to the lack of certain dietary nutrients. Notably, essential vitamins, minerals, and omega-3 fatty acids are often deficient in the general population of America and developed countries and are exceptionally deficient in patients suffering from mental disorders. Typically, most of these disorders are treated with prescription drugs, but many of these drugs cause unwanted side effects. Therefore, psychiatrists recommend alternative or complementary nutritional remedies to overcome the adverse effects of those drugs. Studies have shown that daily supplements of vital nutrients, such as that contain amino acids, often effectively reduce symptoms of the patients, because they are converted into neurotransmitters that alleviate depression and other mental disorders. The aim of this article is to discuss the role of dietary imbalances in the incidence of DD and to emphasize which dietary supplements can aid in the treatment of the above-mentioned DD.
C1 [Ibrahim, Khadiga S.] Natl Res Ctr, Dept Environm & Occupat Med, Cairo, Egypt.
[El-Sayed, Eman M.] Natl Res Ctr, Dept Food Sci & Nutr, Cairo, Egypt.
RP Ibrahim, KS (reprint author), Natl Res Ctr, Dept Environm & Occupat Med, Giza 11141, Egypt.
EM khadigasalah@yahoo.com
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NR 140
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0748-2337
EI 1477-0393
J9 TOXICOL IND HEALTH
JI Toxicol. Ind. Health
PD MAY
PY 2013
VL 29
IS 4
BP 367
EP 384
DI 10.1177/0748233711433937
PG 18
WC Public, Environmental & Occupational Health; Toxicology
SC Public, Environmental & Occupational Health; Toxicology
GA 141TP
UT WOS:000318749700008
PM 22301819
ER
PT J
AU Yang, K
Cao, FJ
Sheikh, AM
Malik, M
Wen, G
Wei, HG
Brown, WT
Li, XH
AF Yang, Kun
Cao, Fujiang
Sheikh, Ashfaq M.
Malik, Mazhar
Wen, Guang
Wei, Hongen
Brown, W. Ted
Li, Xiaohong
TI Up-regulation of Ras/Raf/ERK1/2 signaling impairs cultured neuronal cell
migration, neurogenesis, synapse formation, and dendritic spine
development
SO BRAIN STRUCTURE & FUNCTION
LA English
DT Article
DE Ras/Raf/ERK1/2 signaling pathway; Autism; Apoptosis; Neural development;
Dendritic spines
ID AUTISM SPECTRUM DISORDERS; FRAGILE-X-SYNDROME; AMPA RECEPTOR
TRAFFICKING; LONG-TERM POTENTIATION; DENTATE GYRUS; KINASE; ERK;
PLASTICITY; PROTEIN; ACTIVATION
AB The Ras/Raf/ERK1/2 signaling pathway controls many cellular responses such as cell proliferation, migration, differentiation, and death. In the nervous system, emerging evidence also points to a death-promoting role for ERK1/2 in both in vitro and in vivo models of neuronal death. Recent studies have suggested that abnormal apoptosis in the central nervous system may be involved in the pathogenesis of autism. Two studies reported that both a microdeletion and microduplication on chromosome 16, which includes the MAPK3 gene that encodes ERK1, are associated with autism. In addition, our recent work showed that Ras/Raf/ERK1/2 signaling activities were significantly up-regulated in the frontal cortex of autistic individuals and in the BTBR murine model of autism. To further investigate how Ras/Raf/ERK1/2 up-regulation may lead to the development of autism, we developed a cellular model of Raf/ERK up-regulation by over-expressing c-Raf in cultured cortical neurons (CNs) and cerebellar granule cells (CGCs). We found that Raf/ERK up-regulation stimulates the migration of both CNs and CGCs, and impairs the formation of excitatory synapses in CNs. In addition, we found that Raf/ERK up-regulation inhibits the development of mature dendritic spines in CNs. Investigating the possible mechanisms through which Raf/ERK up-regulation affects excitatory synapse formation and dendritic spine development, we discovered that Raf/ERK up-regulation suppresses the development and maturation of CNs. Together, these results suggest that the up-regulation of the Raf/ERK signaling pathway may contribute to the pathogenesis of autism through both its impairment of cortical neuron development and causing neural circuit imbalances.
C1 [Yang, Kun; Cao, Fujiang; Sheikh, Ashfaq M.; Malik, Mazhar; Wei, Hongen; Brown, W. Ted; Li, Xiaohong] NY State Inst Basic Res Dev Disabil, Dept Neurochem, New York, NY 10314 USA.
[Yang, Kun] Qingdao Univ, Coll Med, Affiliated Hosp, Dept Mol Biol, Qingdao 266003, Peoples R China.
[Wen, Guang] NY State Inst Basic Res Dev Disabil, Dept Dev Neurobiol, New York, NY 10314 USA.
RP Li, XH (reprint author), NY State Inst Basic Res Dev Disabil, Dept Neurochem, 1050 Forest Hill Rd, New York, NY 10314 USA.
EM Xiaohongli99@gmail.com
FU NYS Office for People with Developmental Disabilities; Rural India
Charitable Trust; Northfield Bank Foundation
FX This work was supported by the NYS Office for People with Developmental
Disabilities, the Rural India Charitable Trust and Northfield Bank
Foundation.
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NR 77
TC 7
Z9 8
PU SPRINGER HEIDELBERG
PI HEIDELBERG
PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY
SN 1863-2653
J9 BRAIN STRUCT FUNCT
JI Brain Struct. Funct.
PD MAY
PY 2013
VL 218
IS 3
BP 669
EP 682
DI 10.1007/s00429-012-0420-7
PG 14
WC Anatomy & Morphology; Neurosciences
SC Anatomy & Morphology; Neurosciences & Neurology
GA 135TE
UT WOS:000318310600004
PM 22555958
ER
PT J
AU Fiebelkorn, IC
Foxe, JJ
McCourt, ME
Dumas, KN
Molholm, S
AF Fiebelkorn, Ian C.
Foxe, John J.
McCourt, Mark E.
Dumas, Kristina N.
Molholm, Sophie
TI Atypical category processing and hemispheric asymmetries in
high-functioning children with autism: Revealed through high-density EEG
mapping
SO CORTEX
LA English
DT Article
DE Autism spectrum disorders; Category processing; Hemispheric asymmetries;
Attention; Electroencephalography
ID CORPUS-CALLOSUM; OBJECT-RECOGNITION; SELECTIVE ATTENTION;
VISUAL-PERCEPTION; CLOSURE PROCESSES; FACE RECOGNITION; INDIVIDUALS;
CONNECTIVITY; ACTIVATION; SHAPE
AB Behavioral evidence for an impaired ability to group objects based on similar physical or semantic properties in autism spectrum disorders (ASD) has been mixed. Here, we recorded brain activity from high-functioning children with ASD as they completed a visual-target detection task. We then assessed the extent to which object-based selective attention automatically generalized from targets to non-target exemplars from the same well-known object class (e.g., dogs). Our results provide clear electrophysiological evidence that children with ASD (N = 17, aged 8-13 years) process the similarity between targets (e.g., a specific dog) and same-category non-targets (SCNT) (e.g., another dog) to a lesser extent than do their typically developing (TD) peers (N = 21). A closer examination of the data revealed striking hemispheric asymmetries that were specific to the ASD group. These findings align with mounting evidence in the autism literature of anatomic underconnectivity between the cerebral hemispheres. Years of research in individuals with TD have demonstrated that the left hemisphere (LH) is specialized toward processing local (or featural) stimulus properties and the right hemisphere (RH) toward processing global (or configural) stimulus properties. We therefore propose a model where a lack of communication between the hemispheres in ASD, combined with typical hemispheric specialization, is a root cause for impaired categorization and the oft-observed bias to process local over global stimulus properties. (c) 2012 Elsevier Ltd. All rights reserved.
C1 [Fiebelkorn, Ian C.; Foxe, John J.; Dumas, Kristina N.; Molholm, Sophie] Albert Einstein Coll Med, Sheryl & Daniel R Tishman Cognit Neurophysiol Lab, CERC, Dept Pediat, Bronx, NY 10467 USA.
[Fiebelkorn, Ian C.; Foxe, John J.; Dumas, Kristina N.; Molholm, Sophie] Albert Einstein Coll Med, Sheryl & Daniel R Tishman Cognit Neurophysiol Lab, CERC, Dept Neurosci, Bronx, NY 10467 USA.
[Fiebelkorn, Ian C.; McCourt, Mark E.] N Dakota State Univ, Dept Psychol, Ctr Visual & Cognit Neurosci, Fargo, ND 58105 USA.
RP Molholm, S (reprint author), Albert Einstein Coll Med, Sheryl & Daniel R Tishman Cognit Neurophysiol Lab, CERC, Dept Pediat, Van Etten Bldg 1C, Bronx, NY 10467 USA.
EM sophie.molholm@einstein.yu.edu
RI McCourt, Mark/C-5143-2012
OI McCourt, Mark/0000-0001-8675-8231
FU National Institute of Mental Health [MH-085322]; National Science
Foundation [BCS0642584]; National Center for Research Resources (NCRR);
National Institute for General Medicine (NIGMS) of the National
Institutes of Health (NIH) [P20 RR020151, P20 GM103505]; P30 center
grant from the Eunice Kennedy Shriver National Institute of Child Health
and Human Development [HD071593]
FX This work was supported by a National Institute of Mental
HealthMH-085322 to SM and JJF, and a National Science
FoundationBCS0642584 to JJF. ICF and MEM received support from the
National Center for Research Resources (NCRR) and the National Institute
for General Medicine (NIGMS) of the National Institutes of Health (NIH)
through Grants P20 RR020151 and P20 GM103505. The contents of this
report are solely the responsibility of the authors and do not
necessarily reflect the official views of the NIH, NCRR or NIGMS. We
would like to thank Dr. Natalie Russo and Sarah Ruberman for their help
at various stages of the project. We would also like to acknowledge the
contributions of the staff at the Human Clinical Phenotyping Core (HCP)
of the Rose F. Kennedy Intellectual and Developmental Disabilities
Research Center (IDDRC) during the recruitment and clinical
classification of a portion of the participants who served in this
study. This core is supported through a P30 center grant from the Eunice
Kennedy Shriver National Institute of Child Health and Human Development
(HD071593).
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NR 60
TC 8
Z9 8
PU ELSEVIER MASSON
PI MILANO
PA VIA PALEOCAPA 7, 20121 MILANO, ITALY
SN 0010-9452
J9 CORTEX
JI Cortex
PD MAY
PY 2013
VL 49
IS 5
BP 1259
EP 1267
DI 10.1016/j.cortex.2012.04.007
PG 9
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 138SV
UT WOS:000318531200009
PM 22652240
ER
PT J
AU Virues-Ortega, J
Rodriguez, V
Yu, CT
AF Virues-Ortega, Javier
Rodriguez, Victor
Yu, C. T.
TI Prediction of treatment outcomes and longitudinal analysis in children
with autism undergoing intensive behavioral intervention
SO INTERNATIONAL JOURNAL OF CLINICAL AND HEALTH PSYCHOLOGY
LA English
DT Article
DE Autism; Predictors; Applied behavior analysis; Quasi-experiment
(interrupted time-series with one group)
ID SPECTRUM DISORDERS; YOUNG-CHILDREN; STABILITY
AB Outcome prediction is an important component of treatment planning and prognosis. Autism; However, reliable predictors of intensive behavioral intervention (IBI) have not been clearly Predictors; established. IBI is an evidence-based approach to the systematic teaching of academic, social, Applied behavior verbal, and daily living skills to individuals with autism spectrum disorder. Incorporating analysis; longitudinal analysis to IBI outcome studies may help to identify outcome predictors of clinical Quasi-experiment value. Twenty-four children with autism underwent on average two years of IBI and completed (interrupted language, daily living skills, cognitive, and motor assessments (Early Learning Accomplishment time-series with Profile and the Learning Accomplishment Profile-Diagnostic, 3rd edition) every six months. We one group) used multilevel analysis to identify potential longitudinal predictors including gender, age, intervention intensity, intervention duration, total intervention time, and pre-intervention functioning. Results indicated that total intervention time, pre-intervention functioning, and age caused the greatest increase in goodness-of-fit of the longitudinal multilevel models. Longitudinal analysis is a promising analytical strategy to identify reliable predictors of the clinical outcome of IBI. (C) 2012 Asociacion Espanola de Psicologia Conductual. Published by Elsevier Espana, S.L. All rights reserved.
C1 [Virues-Ortega, Javier; Yu, C. T.] Univ Manitoba, Winnipeg, MB, Canada.
[Virues-Ortega, Javier; Yu, C. T.] St Amant Res Ctr, Toronto, ON, Canada.
RP Virues-Ortega, J (reprint author), Univ Manitoba, Dept Psychol, P518 Duff Roblin Bldg,190 Dysart Rd,MB R3T, Winnipeg, MB R3T 2N2, Canada.
EM javier.virues@ad.umanitoba.ca
RI Yu, C.T./D-1731-2014
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NR 37
TC 2
Z9 2
PU ASOCIACION ESPANOLA PSICOLOGIA CONDUCTUAL
PI GRANADA
PA UNIVERSIDAD DE GRANADA, 18071 GRANADA, SPAIN
SN 1697-2600
J9 INT J CLIN HLTH PSYC
JI Int. J. Clin. Health Psychol.
PD MAY
PY 2013
VL 13
IS 2
BP 91
EP 100
PG 10
WC Psychology, Clinical
SC Psychology
GA 139KR
UT WOS:000318582100002
ER
PT J
AU Durrleman, S
Pennec, X
Trouve, A
Braga, J
Gerig, G
Ayache, N
AF Durrleman, Stanley
Pennec, Xavier
Trouve, Alain
Braga, Jose
Gerig, Guido
Ayache, Nicholas
TI Toward a Comprehensive Framework for the Spatiotemporal Statistical
Analysis of Longitudinal Shape Data
SO INTERNATIONAL JOURNAL OF COMPUTER VISION
LA English
DT Article
DE Longitudinal data; Statistics; Growth; Shape regression; Spatiotemporal
registration; Time warp
ID AGE 2 YEARS; BRAIN GROWTH; REGISTRATION; DIFFEOMORPHISMS; DEFORMATION;
PATTERN; MORPHOMETRY; SEQUENCES; AUTISM; MOTION
AB This paper proposes an original approach for the statistical analysis of longitudinal shape data. The proposed method allows the characterization of typical growth patterns and subject-specific shape changes in repeated time-series observations of several subjects. This can be seen as the extension of usual longitudinal statistics of scalar measurements to high-dimensional shape or image data. The method is based on the estimation of continuous subject-specific growth trajectories and the comparison of such temporal shape changes across subjects. Differences between growth trajectories are decomposed into morphological deformations, which account for shape changes independent of the time, and time warps, which account for different rates of shape changes over time. Given a longitudinal shape data set, we estimate a mean growth scenario representative of the population, and the variations of this scenario both in terms of shape changes and in terms of change in growth speed. Then, intrinsic statistics are derived in the space of spatiotemporal deformations, which characterize the typical variations in shape and in growth speed within the studied population. They can be used to detect systematic developmental delays across subjects. In the context of neuroscience, we apply this method to analyze the differences in the growth of the hippocampus in children diagnosed with autism, developmental delays and in controls. Result suggest that group differences may be better characterized by a different speed of maturation rather than shape differences at a given age. In the context of anthropology, we assess the differences in the typical growth of the endocranium between chimpanzees and bonobos. We take advantage of this study to show the robustness of the method with respect to change of parameters and perturbation of the age estimates.
C1 [Durrleman, Stanley; Gerig, Guido] Sci Comp & Imaging SCI Inst, Salt Lake City, UT 84112 USA.
[Durrleman, Stanley; Pennec, Xavier; Ayache, Nicholas] INRIA Sophia Antipolis, Asclepios Team Project, F-06902 Sophia Antipolis, France.
[Durrleman, Stanley; Trouve, Alain] CNRS ENS Cachan, CMLA, F-94235 Cachan, France.
[Braga, Jose] Univ Toulouse 3, CNRS, Lab Paleoanthropol Assistee Ordinateur, F-37073 Toulouse, France.
RP Durrleman, S (reprint author), Sci Comp & Imaging SCI Inst, 72 S Cent Dr, Salt Lake City, UT 84112 USA.
EM stanley.durrleman@gmail.com
RI Pennec, Xavier/L-2537-2013; Braga, Jose/A-4025-2010
OI Pennec, Xavier/0000-0002-6617-7664; Braga, Jose/0000-0002-8483-076X
FU INRIA ARC 3D-Morphine (PI: Sylvain Prima); European IP Project
Health-e-child [IST-2004-027749]; Microsoft Research
FX We would like to thank B. Combes (IRISA, France) for preprocessing the
endocast data, J. Piven, director of Carolina Institute for
Developmental Disabilities at UNC Chapel Hill, for providing imaging
data related to autism research, and M. Styner (Psychiatry UNC Chapel
Hill) for processing the subcortical structures. We thank W. Van Neer
and E. Gilissen the previous and current curator of the "Musee de
l'Afrique Centrale" at Tervuren (Belgium). We are indebted to Chems
Touati for his help for creating figures and movies and James Fishbaugh
for his kind proofreading of the manuscript, both at the Scientific
Computing and Imaging Institute, University of Utah. This work has been
funded in part by the INRIA ARC 3D-Morphine (PI: Sylvain Prima), the
European IP Project Health-e-child (IST-2004-027749) and Microsoft
Research.
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NR 44
TC 8
Z9 8
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0920-5691
J9 INT J COMPUT VISION
JI Int. J. Comput. Vis.
PD MAY
PY 2013
VL 103
IS 1
BP 22
EP 59
DI 10.1007/s11263-012-0592-x
PG 38
WC Computer Science, Artificial Intelligence
SC Computer Science
GA 137CV
UT WOS:000318413500002
ER
PT J
AU Ewing-Cobbs, L
Prasad, MR
Mendez, D
Barnes, MA
Swank, P
AF Ewing-Cobbs, Linda
Prasad, Mary R.
Mendez, Donna
Barnes, Marcia A.
Swank, Paul
TI Social Interaction in Young Children with Inflicted and Accidental
Traumatic Brain Injury: Relations with Family Resources and Social
Outcomes
SO JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY
LA English
DT Article
DE Joint attention; Gaze; Developmental outcome; Social cognition; High
risk; Child abuse; Communication; Adaptive behavior; Cognition; Infants
ID INFANT JOINT ATTENTION; SHAKEN-BABY SYNDROME; PRESCHOOL-CHILDREN;
EXECUTIVE PROCESSES; VISUAL-ATTENTION; HEAD-INJURY; COGNITION;
COMPETENCE; AUTISM; SKILLS
AB Core social interaction behaviors were examined in young children 0-36 months of age who were hospitalized for accidental (n = 61) or inflicted (n = 64) traumatic brain injury (TBI) in comparison to typically developing children (n = 60). Responding to and initiating gaze and joint attention (JA) were evaluated during a semi-structured sequence of social interactions between the child and an examiner at 2 and 12 months after injury. The accidental TBI group established gaze less often and had an initial deficit initiating JA that resolved by the follow-up. Contrary to expectation, children with inflicted TBI did not have lower rates of social engagement than other groups. Responding to JA was more strongly related than initiating JA to measures of injury severity and to later cognitive and social outcomes. Compared to complicated-mild/moderate TBI, severe TBI in young children was associated with less responsiveness in social interactions and less favorable caregiver ratings of communication and social behavior. JA response, family resources, and group interacted to predict outcomes. Children with inflicted TBI who were less socially responsive and had lower levels of family resources had the least favorable outcomes. Low social responsiveness after TBI may be an early marker for later cognitive and adaptive behavior difficulties.
C1 [Ewing-Cobbs, Linda; Prasad, Mary R.; Barnes, Marcia A.; Swank, Paul] Univ Texas Hlth Sci Ctr Houston, Dept Pediat, Houston, TX USA.
[Ewing-Cobbs, Linda; Prasad, Mary R.; Barnes, Marcia A.; Swank, Paul] Univ Texas Hlth Sci Ctr Houston, Childrens Learning Inst, Houston, TX USA.
[Ewing-Cobbs, Linda] Univ Texas Hlth Sci Ctr Houston, Dept Psychiat & Behav Sci, Houston, TX USA.
[Mendez, Donna] Baylor Coll Med, Dept Emergency Med, Houston, TX 77030 USA.
RP Ewing-Cobbs, L (reprint author), Childrens Learning Inst, Dept Pediat, 7000 Fannin,Suite 2401, Houston, TX 77030 USA.
EM linda.ewing-cobbs@uth.tmc.edu
FU National Institute of Neurological Disorders and Stroke [R01 NS029462]
FX This publication was supported by Grant Number R01 NS029462 from the
National Institute of Neurological Disorders and Stroke. The content is
solely the responsibility of the authors and does not necessarily
represent the official views of the National Institute of Neurological
Disorders and Stroke or the National Institutes of Health. The
participation of the children and families, as well as the assistance of
the Texas Department of Protective and Regulatory Services, is
gratefully acknowledged. The authors report no financial or other
conflict of interest.
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NR 52
TC 1
Z9 1
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 1355-6177
J9 J INT NEUROPSYCH SOC
JI J. Int. Neuropsychol. Soc.
PD MAY
PY 2013
VL 19
IS 5
BP 497
EP 507
DI 10.1017/S1355617713000210
PG 11
WC Clinical Neurology; Neurosciences; Psychiatry; Psychology
SC Neurosciences & Neurology; Psychiatry; Psychology
GA 136OB
UT WOS:000318370100002
PM 23507345
ER
PT J
AU McDonald, S
English, T
Randall, R
Longman, T
Togher, L
Tate, RL
AF McDonald, Skye
English, Therese
Randall, Rebekah
Longman, Thea
Togher, Leanne
Tate, Robyn L.
TI Assessing Social Cognition and Pragmatic Language in Adolescents with
Traumatic Brain Injuries
SO JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY
LA English
DT Article
DE Emotion; Theory of mind; Pragmatics; Sarcasm; Brain injury; Adolescence
ID HIGH-FUNCTIONING AUTISM; HEAD-INJURY; FRONTOTEMPORAL DEMENTIA; EMOTION
RECOGNITION; ASPERGER-SYNDROME; RIGHT-HEMISPHERE; CHILDREN; MIND;
SARCASM; COMMUNICATION
AB Traumatic brain injuries (TBI) in children and adolescents can impair social cognition and communication skills but there are few assessment tools suitable for adolescents. The Awareness of Social Inference Test (TASIT) uses professionally enacted audiovisual vignettes of everyday conversational exchanges and is a valid measure of social perception disorders in adults. This study examined its utility for assessing impairments in social cognition in a group of 16 adolescents with TBI, compared to a group of 16 typically developing (TD) adolescents. Adolescents with TBI were, on average, no different to their TD peers on TASIT 1 (emotion recognition) and TASIT 3 (recognizing lies and sarcasm when provided with additional cues) but performed more poorly on TASIT 2 which required them to interpret sarcastic and sincere conversational exchanges with few cues other than the demeanor of the speakers. Within the TBI group, poor performance on TASIT correlated to both relative and self-reported communication difficulties at home. It also correlated with IQ, face recognition and severity of injury as indexed by duration of post-traumatic amnesia. Overall, this study suggests TASIT is a valid measure for adolescents although it raised questions as to how effective normative data is for comparing performance in social cognition during childhood and adolescence.
C1 [McDonald, Skye; English, Therese; Randall, Rebekah; Longman, Thea; Togher, Leanne; Tate, Robyn L.] Univ New S Wales, Sch Psychol, Sydney, NSW 2052, Australia.
RP McDonald, S (reprint author), Univ New S Wales, Sch Psychol, Sydney, NSW 2052, Australia.
EM s.mcdonald@unsw.edu.au
RI McDonald, Skye/G-4118-2014
OI McDonald, Skye/0000-0003-0723-6094
FU National Health and Medical Research Council of Australia
FX This research was funded by the National Health and Medical Research
Council of Australia. We are grateful to the Prince of Wales Children's
Hospital, Brain Injury Unit and the John Hunter Pediatric Brain Injury
Service for their assistance with recruitment. We are especially
indebted to the young people and their families who participated in this
research. The Awareness of Social Inference Test (TASIT) is sold
commercially by Pearson Assessment and the first author receives
royalties for this. Other than this there are no conflicts of interest.
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NR 57
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
J9 J INT NEUROPSYCH SOC
JI J. Int. Neuropsychol. Soc.
PD MAY
PY 2013
VL 19
IS 5
BP 528
EP 538
DI 10.1017/S1355617713000039
PG 11
WC Clinical Neurology; Neurosciences; Psychiatry; Psychology
SC Neurosciences & Neurology; Psychiatry; Psychology
GA 136OB
UT WOS:000318370100005
PM 23442218
ER
PT J
AU Kamm, GB
Pisciottano, F
Kliger, R
Franchini, LF
AF Kamm, Gretel B.
Pisciottano, Francisco
Kliger, Rafi
Franchini, Lucia F.
TI The Developmental Brain Gene NPAS3 Contains the Largest Number of
Accelerated Regulatory Sequences in the Human Genome
SO MOLECULAR BIOLOGY AND EVOLUTION
LA English
DT Article
DE NPAS3; brain; evolution; humans; schizophrenia
ID TRANSCRIPTION FACTOR; MOLECULAR EVOLUTION; MAXIMUM-LIKELIHOOD; POSITIVE
SELECTION; ADAPTIVE EVOLUTION; CANDIDATE-GENE; ZEBRAFISH; AUTISM;
SCHIZOPHRENIA; EXPRESSION
AB To identify the evolutionary genetic novelties that contributed to shape human-specific traits such as the use of a complex language, long-term planning and exceptional learning abilities is one of the ultimate frontiers of modern biology. Evolutionary signatures of functional shifts could be detected by comparing noncoding regions that are highly conserved across mammals or primates and rapidly accumulated nucleotide substitutions only in the lineage leading to humans. As gene loci densely populated with human-accelerated elements (HAEs) are more likely to have contributed to human-specific novelties, we sought to identify the transcriptional units and genomic 1 Mb intervals of the entire human genome carrying the highest number of HAEs. To this end, we took advantage of four available data sets of human genomic accelerated regions obtained through different comparisons and algorithms and performed a meta-analysis of the combined data. We found that the brain developmental transcription factor neuronal PAS domain-containing protein 3 (NPAS3) contains the largest cluster of noncoding-accelerated regions in the human genome with up to 14 elements that are highly conserved in mammals, including primates, but carry human-specific nucleotide substitutions. We then tested the ability of the 14 HAEs identified at the NPAS3 locus to act as transcriptional regulatory sequences in a reporter expression assay performed in transgenic zebrafish. We found that 11 out of the 14 HAEs present in NPAS3 act as transcriptional enhancers during development, particularly within the nervous system. As NPAS3 is known to play a crucial role during mammalian brain development, our results indicate that the high density of HAEs present in the human NPAS3 locus could have modified the spatiotemporal expression pattern of NPAS3 in the developing human brain and, therefore, contributed to human brain evolution.
C1 [Kamm, Gretel B.; Pisciottano, Francisco; Kliger, Rafi; Franchini, Lucia F.] Consejo Nacl Invest Cient & Tecn, Inst Invest Ingn Genet & Biol Mol INGEBI, RA-1033 Buenos Aires, DF, Argentina.
RP Franchini, LF (reprint author), Consejo Nacl Invest Cient & Tecn, Inst Invest Ingn Genet & Biol Mol INGEBI, RA-1033 Buenos Aires, DF, Argentina.
EM franchini@dna.uba.ar
FU Agencia Nacional de Promocion Cientifica y Tecnologica [PICT 1071];
Consejo Nacional de Investigaciones Cientificas y Tecnicas grant
CONICET-Argentina [PIP 0299]; CONICET
FX The authors thank Drs. Sabina Domene and Nora Calcaterra for excellent
technical advice in transgenic zebrafish production and handling. They
thank Adrian Sestelo for chimpanzee samples. They express their
gratitude to Marcelo Rubinstein for permanent support and valuable
suggestions on experimental design, data interpretation, and critical
comments on the manuscript. This work was supported by the Agencia
Nacional de Promocion Cientifica y Tecnologica grant PICT 1071, the
Consejo Nacional de Investigaciones Cientificas y Tecnicas grant
CONICET-Argentina PIP 0299 to L. F. F., and doctoral fellowships from
the CONICET to F. P. and G.B.K.
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NR 58
TC 9
Z9 9
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0737-4038
J9 MOL BIOL EVOL
JI Mol. Biol. Evol.
PD MAY
PY 2013
VL 30
IS 5
BP 1088
EP 1102
DI 10.1093/molbev/mst023
PG 15
WC Biochemistry & Molecular Biology; Evolutionary Biology; Genetics &
Heredity
SC Biochemistry & Molecular Biology; Evolutionary Biology; Genetics &
Heredity
GA 133UI
UT WOS:000318165700011
PM 23408798
ER
PT J
AU Busquets-Garcia, A
Gomis-Gonzalez, M
Guegan, T
Agustin-Pavon, C
Pastor, A
Mato, S
Perez-Samartin, A
Matute, C
de la Torre, R
Dierssen, M
Maldonado, R
Ozaita, A
AF Busquets-Garcia, Arnau
Gomis-Gonzalez, Maria
Guegan, Thomas
Agustin-Pavon, Carmen
Pastor, Antoni
Mato, Susana
Perez-Samartin, Alberto
Matute, Carlos
de la Torre, Rafael
Dierssen, Mara
Maldonado, Rafael
Ozaita, Andres
TI Targeting the endocannabinoid system in the treatment of fragile X
syndrome
SO NATURE MEDICINE
LA English
DT Article
ID MENTAL-RETARDATION; GABA(A) RECEPTOR; MICE LACKING; MTOR; MEMORY;
CANNABINOIDS; HIPPOCAMPUS; MECHANISMS; PLASTICITY; MODEL
AB Fragile X syndrome (FXS), the most common monogenic cause of inherited intellectual disability and autism(1), is caused by the silencing of the FMR1 gene, leading to the loss of fragile X mental retardation protein (FMRP)(2), a synaptically expressed RNA-binding protein regulating translation(3). The Fmr1 knockout model recapitulates the main traits of the disease(4). Uncontrolled activity of metabotropic glutamate receptor 5 (mGluR5)(5,6) and mammalian target of rapamycin (mTOR) signaling(7-9) seem crucial in the pathophysiology of this disease. The endocannabinoid system (ECS) is a key modulator of synaptic plasticity, cognitive performance, anxiety, nociception and seizure susceptibility(10), all of which are affected in FXS. The ECS receptors, CB1 (CB1R) and CB2 (CB2R), are activated by phospholipid-derived endocannabinoids. Synaptic activation of mGluR5 initiates the synthesis of endocannabinoids(10,11) and promotes CB1R-driven long-term depression of synaptic strength(10). Notably, mGluR5 activation is altered in several brain areas of Fmr1 knockout mice(12-14). We found that CB1R blockade in male Fmr1 knockout (Fmr1-(/y)) mice through pharmacological and genetic approaches normalized cognitive impairment, nociceptive desensitization, susceptibility to audiogenic seizures, overactivated mTOR signaling and altered spine morphology, whereas pharmacological blockade of CB2R normalized anxiolytic-like behavior. Some of these traits were also reversed by pharmacological inhibition of mTOR or mGluR5. Thus, blockade of ECS is a potential therapeutic approach to normalize specific alterations in FXS.
C1 [Busquets-Garcia, Arnau; Gomis-Gonzalez, Maria; Guegan, Thomas; de la Torre, Rafael; Maldonado, Rafael; Ozaita, Andres] UPF, Dept Ciencies Experimentals Salut DCEXS, Barcelona, Spain.
[Agustin-Pavon, Carmen; Dierssen, Mara] Ctr Genom Regulat CRG, Barcelona, Spain.
[Agustin-Pavon, Carmen; Dierssen, Mara] UPF, Barcelona, Spain.
[Pastor, Antoni; de la Torre, Rafael] Inst Hosp Mar Investigac Med IMIM, Grup Recerca Clin Farmacol Humana Neurociencies, Barcelona, Spain.
[Pastor, Antoni] Univ Autonoma Barcelona, Fac Med, E-08193 Barcelona, Spain.
[Mato, Susana; Perez-Samartin, Alberto; Matute, Carlos] Univ Basque Country, Dept Neurociencias, Neurobiol Lab, Leioa, Spain.
[Mato, Susana; Perez-Samartin, Alberto; Matute, Carlos] Achucarro Basque Ctr Neurosci, Zamudio, Spain.
[Mato, Susana; Perez-Samartin, Alberto; Matute, Carlos] Inst Salud Carlos III, Ctr Investigac Biomed Red Enfermedades Neurodegen, Leioa, Spain.
[de la Torre, Rafael] Univ Santiago de Compostela, Hosp Clin, CIBER Fisiopatol Obesidad & Nutr CB06 03 CIBEROBN, Santiago De Compostela, Spain.
[Dierssen, Mara] CIBER Enfermedades Raras CIBERER, Barcelona, Spain.
RP Ozaita, A (reprint author), UPF, Dept Ciencies Experimentals Salut DCEXS, Barcelona, Spain.
EM andres.ozaita@upf.edu
RI Maldonado, Rafael/F-5657-2014; SGIKER, Cienciometria/A-5759-2012
OI Maldonado, Rafael/0000-0002-4359-8773;
FU Ministerio de Ciencia e Innovacion [SAF2009-07309, BFU2012-33500,
SAF2011-29864, SAF2010-21547]; CureFXS E-Rare EU/FIS [PS09102673];
Instituto de Salud Carlos III [RD06/0001/0001]; PLAN E (Plan Espanol
para el Estimulo de la Economia y el Empleo); Generalitat de Catalunya
[SGR-2009-00731, SGR-2009-00718]; ICREA (Institucio Catalana de Recerca
i Estudis Avancats) Academia; Ministerio de Educacion y Cultura;
Fundacio La Marato de TV3 [090910]
FX We thank C. Fernandez-Aviles, D. Real, M. Linares and H. Gomez for
expert technical assistance and O.J. Manzoni for helpful comments. Fmr1
knockout mice in the C57BL/6J background were kindly provided by D.
Nelson at Baylor College of Medicine. A.B.-G. is the recipient of a
predoctoral fellowship (Ministerio de Educacion y Cultura). S.M. is the
recipient of a Ramon y Cajal contract (Ministerio de Educacion y
Cultura). This study was supported by grants from Fundacio La Marato de
TV3 (090910 to A.O.), Grants from the Ministerio de Ciencia e Innovacion
(SAF2009-07309 and BFU2012-33500 to A.O., SAF2011-29864 to R.M. and
SAF2010-21547 to C.M.), CureFXS E-Rare EU/FIS PS09102673 to M.D.,
Instituto de Salud Carlos III (RD06/0001/0001 to R.M.), PLAN E (Plan
Espanol para el Estimulo de la Economia y el Empleo), Generalitat de
Catalunya (SGR-2009-00731 to R.M. and SGR-2009-00718 to R.d.I.T.) and
ICREA (Institucio Catalana de Recerca i Estudis Avancats) Academia to
R.M.
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NR 30
TC 36
Z9 36
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1078-8956
J9 NAT MED
JI Nat. Med.
PD MAY
PY 2013
VL 19
IS 5
BP 603
EP 607
DI 10.1038/nm.3127
PG 5
WC Biochemistry & Molecular Biology; Cell Biology; Medicine, Research &
Experimental
SC Biochemistry & Molecular Biology; Cell Biology; Research & Experimental
Medicine
GA 139LA
UT WOS:000318583000032
PM 23542787
ER
PT J
AU Froese, T
Stanghellini, G
Bertelli, MO
AF Froese, Tom
Stanghellini, Giovanni
Bertelli, Marco O.
TI Is it normal to be a principal mindreader? Revising theories of social
cognition on the basis of schizophrenia and high functioning
autism-spectrum disorders
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Social cognition; Schizophrenia; Autism; Phenomenology; Cognitive
science; Psychopathology; Theory of mind
ID INTELLECTUAL DISABILITY; 1ST-PERSON PERSPECTIVE; PSYCHIATRIC-DISORDERS;
DIRECT PERCEPTION; MIND; ADULTS; BRAIN; CONSCIOUSNESS; PHENOMENOLOGY;
SIMULATION
AB Schizophrenia and high functioning autism-spectrum disorders (ASD) are neurodevelopmental conditions that mainly impair social competence, while general intelligence (IQ) is spared. Both disorders have a strong ancillary role in theoretical research on social cognition. Recently the debate has started to be inflected by embodied and phenomenological approaches, which claim that the standard portrayal of all social understanding as so-called 'mindreading', i.e. the attribution of mental states to others in the service of explaining and predicting their behavior, is misguided. Instead it is emphasized that we normally perceive others directly as conscious and goal-directed persons, without requiring any theorizing and/or simulation. This paper evaluates some of the implications of abnormal experiences reported by people with schizophrenia and ASD for the current debate in cognitive science. For these people the practice of explicit mindreading seems to be a compensatory strategy that ultimately fails to compensate for - and may even exacerbate - their impairment of intuitive and interactive social understanding. Phenomenological psychopathology thereby supports the emerging view that 'mindreading' is not the principal form of normal social understanding. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Froese, Tom] Univ Nacl Autonoma Mexico, IIMAS, Mexico City 01000, DF, Mexico.
[Stanghellini, Giovanni] Univ G DAnnunzio, DISPUTer, Chieti, Italy.
[Stanghellini, Giovanni] Univ Diego Portales, Santiago, Chile.
[Bertelli, Marco O.] CREA AMG Res & Evolut Ctr, Florence, Italy.
RP Froese, T (reprint author), Univ Nacl Autonoma Mexico, Dept Ciencias Comp, Inst Invest Matemat Aplicadas & Sistemas, Ciudad Univ,AP 20-726, Mexico City 01000, DF, Mexico.
EM t.froese@gmail.com
RI Froese, Tom/B-3301-2012
OI Froese, Tom/0000-0002-9899-5274
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NR 103
TC 4
Z9 4
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 MAY
PY 2013
VL 34
IS 5
BP 1376
EP 1387
DI 10.1016/j.ridd.2013.01.005
PG 12
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 129WZ
UT WOS:000317876000002
PM 23474990
ER
PT J
AU Sajedi, F
Ahmadlou, M
Vameghi, R
Gharib, M
Hemmati, S
AF Sajedi, Firoozeh
Ahmadlou, Mehran
Vameghi, Roshanak
Gharib, Masoud
Hemmati, Sahel
TI Linear and nonlinear analysis of brain dynamics in children with
cerebral palsy
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Cerebral palsy; Complexity; Electroencephalography; Gross motor
function; Power spectrum analysis
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; GROSS MOTOR FUNCTION; FUZZY
SYNCHRONIZATION LIKELIHOOD; LISSENCEPHALY AGYRIA-PACHYGYRIA; AUTISM
SPECTRUM DISORDER; VISIBILITY GRAPH; NEURAL-NETWORK; EEG-ANALYSIS;
SERIAL EEG; ADOLESCENTS
AB This study was carried out to determine linear and nonlinear changes of brain dynamics and their relationships with the motor dysfunctions in CP children. For this purpose power of EEG frequency bands (as a linear analysis) and EEG fractality (as a nonlinear analysis) were computed in eyes-closed resting state and statistically compared between 26 CP and 26 normal children. Based on these characteristics accuracy of the classification between the two groups was obtained by enhanced probabilistic neural network (EPNN). Severity of gross motor and manual disabilities was determined by standard systems and the relation between the deficient brain dynamics and severity of the motor dysfunctions was obtained by Pearson's correlation coefficient. A definitely higher delta and lower theta and alpha powers, and higher EEG complexity in CP patients. As such a high accuracy of 94.8% in distinguishing the two groups was obtained. Moreover significant positive correlations were found between beta power and severity of manual disabilities and gross motor dysfunctions in the boys with CP. It is concluded that the obtained brain dynamics' characteristics are useful in diagnosis of CP. Furthermore severity of the motor dysfunctions in boys with CP could be evaluated by the beta activity. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Sajedi, Firoozeh; Vameghi, Roshanak; Gharib, Masoud; Hemmati, Sahel] Univ Social Welf & Rehabil Sci, Pediat Neurorehabil Res Ctr, Tehran, Iran.
[Sajedi, Firoozeh; Ahmadlou, Mehran] Dynam Brain Res Inst, Tehran, Iran.
[Ahmadlou, Mehran] Netherlands Inst Neurosci, Amsterdam, Netherlands.
RP Ahmadlou, M (reprint author), Netherlands Inst Neurosci, Meibergdreef 47, Amsterdam, Netherlands.
EM m.ahmadlou@nin.knaw.nl
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NR 52
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 MAY
PY 2013
VL 34
IS 5
BP 1388
EP 1396
DI 10.1016/j.ridd.2013.01.016
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 129WZ
UT WOS:000317876000003
PM 23474991
ER
PT J
AU Hill-Chapman, CR
Herzog, TK
Maduro, RS
AF Hill-Chapman, Crystal R.
Herzog, Teresa K.
Maduro, Ralitsa S.
TI Aligning over the child: Parenting alliance mediates the association of
autism spectrum disorder atypicality with parenting stress
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism spectrum disorder; Child atypicality; Parenting alliance;
Parenting stress
ID BEHAVIOR PROBLEMS; MENTAL-HEALTH; DEVELOPMENTAL DELAY; PERCEPTIONS;
MARRIAGE; TODDLERS; FATHERS; MOTHERS
AB Children's symptoms of autism are robustly linked to diminished parent well-being and relationship distress, however they are less clearly linked to other aspects of family development. We focused on child atypical symptoms (i.e., behavioral stereotypies) and investigated relations to parental stress and the parenting alliance. We verified that relations between atypicality and parenting stress were partially mediated by a child-focused aspect of the parenting alliance. These results suggested that parents of highly atypical children reported less stress than parents of children with low levels of these behaviors, an effect that acted through an assessment of the parenting partner as highly involved with the child. However, parents with highly atypical children did not report a similarly better self-focused parenting alliance, indicating that direct emotional support from the partner did not differ between the groups. We discuss the possibility that, among parents who stay together in the face of severe child disability, enhanced perceptions of parenting are not uncommon. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Hill-Chapman, Crystal R.; Herzog, Teresa K.; Maduro, Ralitsa S.] Francis Marion Univ, Dept Psychol, Florence, SC 29502 USA.
RP Hill-Chapman, CR (reprint author), Francis Marion Univ, Dept Psychol, POB 100547, Florence, SC 29502 USA.
EM chillchapman@fmarion.edu
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NR 53
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 MAY
PY 2013
VL 34
IS 5
BP 1498
EP 1504
DI 10.1016/j.ridd.2013.01.004
PG 7
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 129WZ
UT WOS:000317876000014
PM 23475000
ER
PT J
AU Collin, L
Bindra, J
Raju, M
Gillberg, C
Minnis, H
AF Collin, Lisa
Bindra, Jasmeet
Raju, Monika
Gillberg, Christopher
Minnis, Helen
TI Facial emotion recognition in child psychiatry: A systematic review
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Review
DE Facial emotion recognition; Child psychiatry; Systematic review
ID PEDIATRIC BIPOLAR DISORDER; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
GENERALIZED ANXIETY DISORDER; DEFICIT HYPERACTIVITY DISORDER; ONSET
CONDUCT DISORDER; AMYGDALA ACTIVATION; ANOREXIA-NERVOSA; EXPRESSION
RECOGNITION; LABELING DEFICITS; SOCIAL COGNITION
AB This review focuses on facial affect (emotion) recognition in children and adolescents with psychiatric disorders other than autism. A systematic search, using PRISMA guidelines, was conducted to identify original articles published prior to October 2011 pertaining to face recognition tasks in case-control studies. Used in the qualitative synthesis were: 2 studies on schizophrenia, 18 on mood disorders, 16 on anxiety disorders, 4 on eating disorders, 14 on ADHD and 9 on conduct disorder.
Our review suggests that there are abnormalities in facial emotion recognition in a wide range of child psychiatric disorders and that these are likely to have a negative effect on both family and peer relationships. Scope for further research has been identified. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Collin, Lisa; Bindra, Jasmeet; Raju, Monika] NHS Greater Glasgow & Clyde, Glasgow, Lanark, Scotland.
[Gillberg, Christopher; Minnis, Helen] Univ Glasgow, Inst Hlth & Wellbeing, Glasgow G12 8QQ, Lanark, Scotland.
RP Minnis, H (reprint author), Univ Glasgow, Inst Hlth & Wellbeing, Glasgow G12 8QQ, Lanark, Scotland.
EM helen.minnis@glasgow.ac.uk
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NR 70
TC 3
Z9 4
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 MAY
PY 2013
VL 34
IS 5
BP 1505
EP 1520
DI 10.1016/j.ridd.2013.01.008
PG 16
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 129WZ
UT WOS:000317876000015
PM 23475001
ER
PT J
AU Ashworth, A
Hill, CM
Karmiloff-Smith, A
Dimitriou, D
AF Ashworth, Anna
Hill, Catherine M.
Karmiloff-Smith, Annette
Dimitriou, Dagmara
TI Cross syndrome comparison of sleep problems in children with Down
syndrome and Williams syndrome
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Sleep problems; Williams syndrome; Down syndrome; Actigraphy;
Developmental disorders
ID SCHOOL-AGED CHILDREN; PRADER-WILLI; DISORDERS; ADOLESCENTS; ACTIGRAPHY;
PATTERNS; APNEA; DISTURBANCE; HABITS; AUTISM
AB Based on previous findings of frequent sleep problems in children with Down syndrome (DS) and Williams syndrome (WS), the present study aimed to expand our knowledge by using parent report and actigraphy to define sleep problems more precisely in these groups. Twenty-two school-aged children with DS, 24 with WS and 52 typically developing (TD) children took part in the study. Each child wore an actiwatch for a minimum of four nights and parents completed the Children's Sleep Habits Questionnaire (CSHQ). Sleep problems were common in both developmental disorders. Children with DS had the greatest sleep disruption, with frequent and longer night wakings as well as restlessness. Parents reported symptoms of sleep-disordered breathing and a range of other problems including grinding teeth, bedtime resistance and sleep anxiety. Children with WS had problems initiating sleep and parents also reported bed-wetting and body pain. Despite these problems, the mean actual sleep time, as measured by actigraphy, did not differ between the three groups. CSHQ reports were in agreement with actigraphy for children's sleep duration, but this was not the case for sleep latency, restlessness and the night wakings variables. Sleep problems in DS and WS are common and appear to be syndrome-specific. Due to the inaccuracy of parent report, it is recommended that children at risk undergo objective measures of sleep assessment. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Ashworth, Anna; Dimitriou, Dagmara] Univ London, Inst Educ, Dept Psychol & Human Dev, London WC1N 1AZ, England.
[Hill, Catherine M.] Univ Southampton, Sch Med, Div Clin Neurosci, Southampton SO9 5NH, Hants, England.
[Karmiloff-Smith, Annette] Birkbeck Univ London, Ctr Brain & Cognit Dev, London, England.
RP Ashworth, A (reprint author), Univ London, Inst Educ, Dept Psychol & Human Dev, London WC1N 1AZ, England.
EM aashworth@ioe.ac.uk; d.annaz@ioe.ac.uk
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NR 37
TC 9
Z9 10
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 MAY
PY 2013
VL 34
IS 5
BP 1572
EP 1580
DI 10.1016/j.ridd.2013.01.031
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 129WZ
UT WOS:000317876000021
PM 23475007
ER
PT J
AU Sappok, T
Diefenbacher, A
Budczies, J
Schade, C
Grubich, C
Bergmann, T
Bolte, S
Dziobek, I
AF Sappok, Tanja
Diefenbacher, Albert
Budczies, Jan
Schade, Christoph
Grubich, Claudia
Bergmann, Thomas
Bolte, Sven
Dziobek, Isabel
TI Diagnosing autism in a clinical sample of adults with intellectual
disabilities: How useful are the ADOS and the ADI-R?
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism; Intellectual disability; Diagnostics; ADOS; ADI-R; Adults
ID PERVASIVE DEVELOPMENTAL DISORDERS; OBSERVATION-SCHEDULE ADOS; SPECTRUM
DISORDERS; MENTAL-RETARDATION; REPETITIVE BEHAVIORS; REVISED ALGORITHMS;
PRESCHOOL-CHILDREN; DISABLED ADULTS; YOUNG-CHILDREN; ASD-DA
AB Intellectual disability (ID) and autism spectrum disorder (ASD) are frequently co-occurring conditions. Carefully diagnosing ASD in individuals with ID would allow for more tailored clinical interventions that would improve mental health and quality of life. In this study, we evaluated the psychometric properties of the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R) in a clinical sample of 79 adults with ID who were suspected of also having ASD. In the testable cases (68%), the ADOS was over-inclusive (specificity 45%) but highly sensitive (100%) of ASD. In the ADI-R, the feasibility was 37%, with a sensitivity of 88% and a specificity of 80%. Previously proposed adaptations of the ADOS algorithm were evaluated, and new items and tasks were suggested. The ADOS and the ADI-R were found to be valuable diagnostic tools for adults with ID. Adjustments of the setting and the tasks may further improve their feasibility and specificity. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Sappok, Tanja; Diefenbacher, Albert; Schade, Christoph; Grubich, Claudia; Bergmann, Thomas] Ev Krankenhaus Konigin Elisabeth Herzberge, Berlin, Germany.
[Budczies, Jan] Charite, Berlin, Germany.
[Bolte, Sven] Karolinska Inst KIND, Ctr Neurodev Disorders, Stockholm, Sweden.
[Dziobek, Isabel] Free Univ Berlin, Berlin, Germany.
RP Sappok, T (reprint author), Ev Krankenhaus Konigin Elisabeth Herzberge, Berlin, Germany.
EM t.sappok@keh-berlin.de
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NR 68
TC 5
Z9 5
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD MAY
PY 2013
VL 34
IS 5
BP 1642
EP 1655
DI 10.1016/j.ridd.2013.01.028
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 129WZ
UT WOS:000317876000028
PM 23475013
ER
PT J
AU Heald, M
Allen, D
Villa, D
Oliver, C
AF Heald, M.
Allen, D.
Villa, D.
Oliver, C.
TI Discrimination training reduces high rate social approach behaviors in
Angelman syndrome: Proof of principle
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Behavioral phenotype; Aggression; Intervention; Discrimination learning;
Errorless learning; Angelman syndrome; Extinction
ID HAPPY PUPPET SYNDROME; DEVELOPMENTAL-DISABILITIES; FUNCTIONAL
COMMUNICATION; DOWN-SYNDROME; CHILDREN; AUTISM; INTERVENTION;
PRESCHOOLERS; INDIVIDUALS; PREVALENCE
AB This proof of principle study was designed to evaluate whether excessively high rates of social approach behaviors in children with Angelman syndrome (AS) can be modified using a multiple schedule design. Four children with AS were exposed to a multiple schedule arrangement, in which social reinforcement and extinction, cued using a novel stimulus, were alternated. Twenty-five to 35 discrimination training sessions were conducted and levels of approach behaviors were measured before and after the discrimination training for two children. All four participants evidenced discrimination between conditions of reinforcement and extinction after 16-20 teaching sessions as. indicated by lower rates of social approach behaviors in the presence of the S-Delta for extinction. Reversal effects for the two children for whom this design was implemented were evident. The results demonstrate that after repeated training, the use of a novel stimulus can serve as a cue for children with AS to discriminate adult availability. This is a potentially effective component of a broader intervention strategy but highlights the need for sustained teaching procedures within this population. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Heald, M.; Allen, D.; Villa, D.; Oliver, C.] Univ Birmingham, Sch Psychol, Cerebra Ctr Neurodev Disorders, Edgbaston B15 2TT, W Midlands, England.
RP Heald, M (reprint author), Univ Birmingham, Sch Psychol, Cerebra Ctr Neurodev Disorders, Edgbaston B15 2TT, W Midlands, England.
EM mxo988@bham.ac.uk
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NR 44
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 MAY
PY 2013
VL 34
IS 5
BP 1794
EP 1803
DI 10.1016/j.ridd.2013.02.012
PG 10
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 129WZ
UT WOS:000317876000043
PM 23518390
ER
PT J
AU Rojahn, J
Schroeder, SR
Mayo-Ortega, L
Oyama-Ganiko, R
LeBlanc, J
Marquis, J
Berke, E
AF Rojahn, Johannes
Schroeder, Stephen R.
Mayo-Ortega, Liliana
Oyama-Ganiko, Rosao
LeBlanc, Judith
Marquis, Janet
Berke, Elizabeth
TI Validity and reliability of the Behavior Problems Inventory, the
Aberrant Behavior Checklist, and the Repetitive Behavior Scale - Revised
among infants and toddlers at risk for intellectual or developmental
disabilities.: A multi-method assessment approach
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Aberrant Behavior Checklist; Behavior Problems Inventory; Repetitive
Behavior Scale - Revised; Psychometric properties; Reliability,
Validity; Multitrait-multimethod; Neurodevelopmental disorders; At risk;
Infants; Toddlers; Children
ID MENTAL-RETARDATION; SHORT FORM; INDIVIDUALS; AUTISM; VALIDATION
AB Reliable and valid assessment of aberrant behaviors is essential in empirically verifying prevention and intervention for individuals with intellectual or developmental disabilities (IDD). Few instruments exist which assess behavior problems in infants. The current longitudinal study examined the performance of three behavior-rating scales for individuals with IDD that have been proven psychometrically sound in older populations: the Aberrant Behavior Checklist (ABC), the Behavior Problems Inventory (BPI-01), and the Repetitive Behavior Scale - Revised (RBS-R). Data were analyzed for 180 between six and 36 months old children at risk for IDD. Internal consistency (Cronbach's alpha) across the subscales of the three instruments was variable. Test-retest reliability of the three BPI-01 subscales ranged from .68 to .77 for frequency ratings and from .65 to .80 for severity ratings (intraclass correlation coefficients). Using a multitrait-multimethod matrix approach high levels of convergent and discriminant validity across the three instruments was found. As anticipated, there was considerable overlap in the information produced by the three instruments; however, each behavior-rating instrument also contributed unique information. Our findings support using all three scales in conjunction if possible. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Rojahn, Johannes; Berke, Elizabeth] George Mason Univ, Fairfax, VA 22033 USA.
[Schroeder, Stephen R.; Mayo-Ortega, Liliana; LeBlanc, Judith; Marquis, Janet] Univ Kansas, Lawrence, KS 66045 USA.
RP Rojahn, J (reprint author), George Mason Univ, Dept Psychol, 10340 Democracy Lane,Suite 202, Fairfax, VA 22033 USA.
EM jrojahn@gmu.edu
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NR 26
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 MAY
PY 2013
VL 34
IS 5
BP 1804
EP 1814
DI 10.1016/j.ridd.2013.02.024
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 129WZ
UT WOS:000317876000044
PM 23511345
ER
PT J
AU Hill, DA
Kearley, R
AF Hill, Doris Adams
Kearley, Regina
TI Autism litigation: Outcomes for 2010, trends in decision making and
changes in diagnostic criteria
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Review
DE Autism; Legislation; Case law; LexisNexis
AB The diagnosis of autism spectrum disorder has systematically risen since Manner's description in 1943 and Asperger's definition in 1944. An increase in numbers has met with an increase in litigation regarding autism spectrum disorder (ASD) and the Individuals with Disabilities Education Improvement Act (IDEIA). Outcomes that first favored parents (2002-2004) have moved to outcomes favoring school districts. The authors update the reader on case outcomes for 2010 and discuss how pending changes in legislation and diagnostic criteria may impact navigation through the education system as individuals seek a free appropriate public education (FAPE) and placement in the least restrictive environment (LRE). (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Hill, Doris Adams; Kearley, Regina] Auburn Univ, Auburn, AL 36849 USA.
RP Hill, DA (reprint author), Auburn Univ, Auburn, AL 36849 USA.
EM hilldol@auburn.edu
CR American Psychiatric and Association, 2012, DIAGN STAT MAN MENT
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
[Anonymous], 2012, CBS NEWS
Autism Society of America, 2011, AB AUT
Boutot E. A., 2011, AUTISM SPECTRUM DISO
Centers for Disease Control and Prevention, 2012, SURVEILLANCE SUMMARI, V61, P1
Centers for Medicare & Medicaid Services, 2012, ICD 10 TRANS INTR
Conroy T., 2010, FOCUS EXCEPTIONAL CH, V43, P2
Grossman L., 2007, AUTISM ADVOCATE, P9
Hartley SL, 2009, J AUTISM DEV DISORD, V39, P1715, DOI 10.1007/s10803-009-0810-8
Heward W., 2013, EXCEPTIONAL CHILDREN, V10th
Hill D., 2011, PREVENTING SCH FAILU, V55, P214
Hill D., 2012, PREVENTING SCH FAILU, V56, P157
Hulett K., 2009, LEGAL ASPECTS SPECIA
Kaland N, 2011, RES AUTISM SPECT DIS, V5, P984, DOI 10.1016/j.rasd.2011.01.011
LexisNexis, 2011, AB LEXISNEXIS
Resnick M., 2010, AM SCH BOARD J, V197, P6
Strauss V., 2012, WASHINGTON POST
U.S. Department of Education, 2012, ESEA FLEX
Yell M. L., 2006, LAW SPECIAL ED
NR 20
TC 0
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 MAY
PY 2013
VL 34
IS 5
BP 1843
EP 1848
DI 10.1016/j.ridd.2013.02.018
PG 6
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 129WZ
UT WOS:000317876000048
PM 23528441
ER
PT J
AU Mester, J
Eng, C
AF Mester, Jessica
Eng, Charis
TI When Overgrowth Bumps Into Cancer: The PTEN-Opathies
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
LA English
DT Article
DE PTEN; Cowden syndrome; AKT; PIK3CA; PI3K; mTOR
ID RILEY-RUVALCABA-SYNDROME; TUMOR-SUPPRESSOR GENE; AUTISM SPECTRUM
DISORDERS; TUBEROUS SCLEROSIS COMPLEX; LHERMITTE-DUCLOS DISEASE;
BANNAYAN-ZONANA-SYNDROME; ATP-BINDING MOTIFS; PROTEUS-SYNDROME;
COWDEN-SYNDROME; MAMMALIAN TARGET
AB PTEN is a dual-specificity phosphatase and well-known tumor suppressor gene. When functioning properly, it works in its canonical pathway to inhibit AKT/mTOR and MAPK signaling, leading to cell death and growth regulation. PTEN mutations cause dysregulation of these pathways, resulting in cellular proliferation and overgrowth. When germline mutations are present as in patients with PTEN Hamartoma Tumor Syndrome (PHTS), benign and malignant neoplasias occur as well as cerebral overgrowth and neurodevelopmental abnormalities. This review article will summarize recent laboratory and clinical investigations relating to PTEN, highlighting the overgrowth aspects of this syndrome and the molecular drivers behind these key phenotypes. Finally, therapies developed targeted the PI3K/AKT/mTOR pathway for other tumor predisposition syndromes will be discussed. (c) 2013 Wiley Periodicals, Inc.
C1 [Mester, Jessica; Eng, Charis] Cleveland Clin, PTEN Cowden Multidisciplinary Clin, Cleveland, OH USA.
RP Eng, C (reprint author), FACP, 9500 Euclid Ave NE50, Cleveland, OH 44195 USA.
EM engc@ccf.org
FU National Cancer Institute; American Cancer Society; Breast Cancer
Research Foundation; Doris Duke Distinguished Clinical Scientist Award;
Department of Defense Breast Cancer Research Program; William Randolph
Hearst Foundations; Susan G. Komen for the Cure
FX Grant sponsor: National Cancer Institute; Grant sponsor: American Cancer
Society; Grant sponsor: Breast Cancer Research Foundation; Grant
sponsor: Doris Duke Distinguished Clinical Scientist Award; Grant
sponsor: Department of Defense Breast Cancer Research Program; Grant
sponsor: William Randolph Hearst Foundations; Grant sponsor: Susan G.
Komen for the Cure.
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NR 67
TC 28
Z9 29
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4868
J9 AM J MED GENET C
JI Am. J. Med. Genet. C
PD MAY
PY 2013
VL 163C
IS 2
SI SI
BP 114
EP 121
DI 10.1002/ajmg.c.31364
PG 8
WC Genetics & Heredity
SC Genetics & Heredity
GA 133VR
UT WOS:000318169400006
PM 23613428
ER
PT J
AU Kverka, M
Tlaskalova-Hogenova, H
AF Kverka, Miloslav
Tlaskalova-Hogenova, Helena
TI Two faces of microbiota in inflammatory and autoimmune diseases:
triggers and drugs
SO APMIS
LA English
DT Review
DE Inflammation; autoimmunity; probiotics; microbiota; intestinal barrier;
inflammatory bowel disease; rheumatic diseases; celiac disease;
diabetes; allergy; autism
ID PLACEBO-CONTROLLED TRIAL; SEGMENTED FILAMENTOUS BACTERIA; INTESTINAL
EPITHELIAL-CELLS; DEPENDENT DIABETES-MELLITUS; PROBIOTIC
ESCHERICHIA-COLI; IRRITABLE-BOWEL-SYNDROME; GERM-FREE MICE;
CROHNS-DISEASE; GUT MICROBIOTA; DOUBLE-BLIND
AB The prevalence of chronic autoimmune and inflammatory diseases, such as inflammatory bowel disease, allergies, or rheumatic diseases, is steadily increasing in developed countries. This increase is probably accelerated by environmental factors, such as decrease in infectious burden or changes in food processing. These lifestyle changes then strongly influence the strongest stimulus for the immune system commensal microbiota. Despite the differences in the affected organ, the immune-mediated diseases have one or more factors in common microbe either as a trigger or as a protector, mucosal barrier dysfunction, and dysregulation of the immune system. The core questions, which microbes are involved and how these diseases can be cured or even prevented still remain unsolved. Powered by the recent progress in technology, by new insights into the function of immune system, by advances in microbiome research, and extended use of gnotobiological techniques, these mechanisms are now being unravelled and new therapeutic possibilities are emerging. To secure their niche, the microbes devised many ingenious ways, how to dampen the inflammation. Nonpathogenic microorganisms or microbial components isolated from probiotic, commensal or even pathogenic microbes could be, therefore, used to interfere with the pathogenetic mechanisms of immune-mediated diseases.
C1 [Kverka, Miloslav; Tlaskalova-Hogenova, Helena] Acad Sci Czech Republic, Inst Microbiol, Dept Immunol & Gnotobiol, Prague, Czech Republic.
RP Kverka, M (reprint author), Inst Microbiol AS CR, Videnska 1083, Prague 14220 4, Krc, Czech Republic.
EM kverka@biomed.cas.cz
RI Kverka, Miloslav/H-2507-2014; Tlaskalova-Hogenova, Helena/J-8008-2014
OI Kverka, Miloslav/0000-0002-1335-5252;
FU Czech Science Foundation [P303/12/0535, P304/11/1252]; Ministry of
Health of the Czech Republic [NT13483-4/2012]; Institutional Research
Concept of Institute of Microbiology AS CR [RVO: 61388971]
FX Authors are supported by research grants from the Czech Science
Foundation (P303/12/0535 and P304/11/1252), The Ministry of Health of
the Czech Republic (NT13483-4/2012), and by Institutional Research
Concept of Institute of Microbiology AS CR (RVO: 61388971).
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NR 181
TC 6
Z9 6
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0903-4641
J9 APMIS
JI APMIS
PD MAY
PY 2013
VL 121
IS 5
BP 403
EP 421
DI 10.1111/apm.12007
PG 19
WC Immunology; Microbiology; Pathology
SC Immunology; Microbiology; Pathology
GA 134UH
UT WOS:000318239800003
PM 23094605
ER
PT J
AU McRae, AF
Wright, MJ
Hansell, NK
Montgomery, GW
Martin, NG
AF McRae, Allan F.
Wright, Margaret J.
Hansell, Narelle K.
Montgomery, Grant W.
Martin, Nicholas G.
TI No Association Between General Cognitive Ability and Rare Copy Number
Variation
SO BEHAVIOR GENETICS
LA English
DT Article
DE Intelligence; Copy-number variation; Genetic burden; Association
ID LINKED MENTAL-RETARDATION; GENOME-WIDE ASSOCIATION; HUMAN INTELLIGENCE;
BIPOLAR DISORDER; INCREASE RISK; SCHIZOPHRENIA; DELETIONS; VARIANTS;
AUTISM; CNVS
AB There is increasing evidence for the role of rare copy-number variation (CNV) in the development of neuropsychiatric disorders. It is likely that such variants also have an effect on the variation of cognition in what is considered the "normal" phenotypic range. The role of rare CNV (> 20 KB in length; frequency < 5 %) on general cognitive ability is investigated in a sample of 800 individuals (mean age = 16.5, SD = 1.2) using copy-number variants called from the Illumina 610K SNP genotyping array with the software QuantiSNP. We assessed three measures of CNV burden-total CNV length, number of CNV and average CNV length-for both deletions and duplications in combination and separately. No correlation was found between any of the measures of CNV burden and IQ, or when comparing the top and bottom 10 % of the sample for IQ, both on a genome-wide scale and at individual positions across the genome.
C1 [McRae, Allan F.] Univ Queensland, Diamantina Inst, Brisbane, Qld, Australia.
[McRae, Allan F.; Wright, Margaret J.; Hansell, Narelle K.; Montgomery, Grant W.; Martin, Nicholas G.] Queensland Inst Med Res, Brisbane, Qld 4006, Australia.
RP McRae, AF (reprint author), Univ Queensland, Diamantina Inst, Brisbane, Qld, Australia.
EM a.mcrae@uq.edu.au
RI McRae, Allan/J-2644-2014
OI McRae, Allan/0000-0001-5286-5485
FU Australian Research Council [ARC: A7960034, A79906588, A79801419,
DP0212016, DP0343921, DP0664638, DP1093900, FT0991360]; Australian
National Health and Medical Research Council (NHMRC: Medical
Bioinformatics Genomics Proteomics Program) [389891]; NHMRC [339446,
619667]
FX We thank our twin sample for their participation; Marlene Grace and Ann
Eldridge for sample collection; Anjali Henders, Megan Campbell, Lisa
Bowdler, Steven Crooks, and staff of the QIMR Molecular Epidemiology
Laboratory for DNA sample processing and preparation; Kerrie McAloney
for study co-ordination; and Harry Beeby, Daniel Park, and David Smyth
for IT support. This work was supported by grants from the Australian
Research Council (ARC: A7960034, A79906588, A79801419, DP0212016,
DP0343921, DP0664638, DP1093900, FT0991360) and the Australian National
Health and Medical Research Council (NHMRC: Medical Bioinformatics
Genomics Proteomics Program, 389891). G. W. M. is supported by the NHMRC
Fellowship Scheme (339446, 619667).
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Ropers HH, 2005, NAT REV GENET, V6, P46, DOI 10.1038/nrg1501
Sebat J, 2007, SCIENCE, V316, P445, DOI 10.1126/science.1138659
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NR 26
TC 8
Z9 8
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0001-8244
J9 BEHAV GENET
JI Behav. Genet.
PD MAY
PY 2013
VL 43
IS 3
BP 202
EP 207
DI 10.1007/s10519-013-9587-9
PG 6
WC Behavioral Sciences; Genetics & Heredity; Psychology, Multidisciplinary
SC Behavioral Sciences; Genetics & Heredity; Psychology
GA 127HE
UT WOS:000317687800003
PM 23417127
ER
PT J
AU Reilly, C
Kent, E
Neville, BGR
AF Reilly, Colin
Kent, Elizabeth
Neville, Brian G. R.
TI Review: Psychopathology in childhood epilepsy
SO CHILD AND ADOLESCENT MENTAL HEALTH
LA English
DT Review
DE Childhood epilepsy; psychopathology; depression; anxiety; ASD; ADHD;
population-based studies
ID AUTISM SPECTRUM DISORDERS; INCIDENT UNPROVOKED SEIZURES; PEDIATRIC
EPILEPSY; INTELLECTUAL DISABILITY; PSYCHIATRIC-SYMPTOMS;
BEHAVIORAL-DISORDERS; POPULATION SURVEY; ONSET EPILEPSY; RISK-FACTORS;
CHILDREN
AB Background Population-based studies of psychopathology are important in childhood epilepsy given that there is a spectrum of severity with regard to the impact of epilepsy and associated behavioural/psychiatric difficulties. Method Population-based studies in childhood epilepsy which have focused on global measures of psychopathology and rates of specific behavioural and psychiatric disorders were reviewed with respect to prevalence of disorders and possible correlates of difficulties. Clinic-based studies and meta-analyses were reviewed where they added to an understanding of the correlates or treatment of psychopathology in childhood epilepsy. The systematic review methodology was based on a search of PubMed from January 1980 to June 2011. Results Children with epilepsy are at significantly higher risk for a range of behavioural and psychiatric disorders including attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), depressive and anxiety disorders. Available evidence suggests that these difficulties are under-recognised and there have been few studies focussing on interventions to treat these behavioural and psychiatric issues in childhood epilepsy. Conclusion Population-based studies suggest high rates of psychopathology in childhood epilepsy. As a result children with epilepsy need close monitoring with regard to the presence of behavioural difficulties. There is a need for studies on how such difficulties can be best managed so that affected children and their families can maximise their quality of life.
C1 [Reilly, Colin] NCYPE, Res Dept, Lingfield RH7 6PW, Surrey, England.
[Reilly, Colin; Kent, Elizabeth] NCYPE, Dept Psychol, Lingfield RH7 6PW, Surrey, England.
[Neville, Brian G. R.] UCL Inst Child Hlth, London, England.
[Neville, Brian G. R.] NCYPE, Lingfield RH7 6PW, Surrey, England.
RP Reilly, C (reprint author), NCYPE, Res Dept, St Piers Lane, Lingfield RH7 6PW, Surrey, England.
EM creilly@ncype.org.uk
FU Esmee Fairbairn Foundation; National Centre for Young People with
Epilepsy
FX The first author is funded by the Esmee Fairbairn Foundation and the
National Centre for Young People with Epilepsy. The authors have
declared that they have no competing or potential conflicts of interest
arising from this publication.
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NR 77
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1475-357X
J9 CHILD ADOL MENT H-UK
JI Child Adolesc. Ment. Health
PD MAY
PY 2013
VL 18
IS 2
BP 65
EP 75
DI 10.1111/j.1475-3588.2012.00648.x
PG 11
WC Psychology, Clinical; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA 126GN
UT WOS:000317601300001
ER
PT J
AU Kingston, C
Hibberd, C
Ozsivadjian, A
AF Kingston, Cara
Hibberd, Charlotte
Ozsivadjian, Ann
TI Parent experiences of a specialist intervention service for mental
health difficulties in children with autistic spectrum disorder
SO CHILD AND ADOLESCENT MENTAL HEALTH
LA English
DT Article
DE Autistic spectrum disorder; children and families; service evaluation;
specialist intervention; user-involvement
ID RANDOMIZED CONTROLLED-TRIAL; PSYCHIATRIC-DISORDERS; ASPERGER-SYNDROME;
ANXIETY; PREVALENCE
AB Background Mental health problems are increasingly being recognised as a significant health need for people with autism spectrum disorder, but few specialist services are available. This study explored parents' experiences of a specialist autism spectrum psychological intervention service located within a broader Neurodevelopmental and Social Communication Disorders Team. Method Forty-nine parents completed a telephone based survey designed to assess experiences of a specialist intervention service. Results High levels of satisfaction were reported. Parents reported aspects of the service that they found most useful. Conclusion Most parents reported satisfaction with the service and suggested improvements were used to guide service development.
C1 [Kingston, Cara] Kings Coll London, Inst Psychiat, London SE 8AF, England.
[Hibberd, Charlotte] Univ Surrey, Guildford GU2 5XH, Surrey, England.
[Ozsivadjian, Ann] Guys Hosp, Newcomen Ctr, London SE1 9RT, England.
RP Kingston, C (reprint author), Kings Coll London, Inst Psychiat, De Crespigny Pk, London SE 8AF, England.
EM cara.kingston@kcl.ac.uk
FU Guys and St Thomas' NHS Foundation Trust Clinical Governance Department
FX The study was supported by the Guys and St Thomas' NHS Foundation Trust
Clinical Governance Department. Part of this study was undertaken by the
first author while a postgraduate student at King's College London,
Institute of Psychiatry. The authors have declared that they have no
competing or potential conflicts of interest. The authors would like to
thank all the parents who participated in the study.
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NR 28
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1475-357X
J9 CHILD ADOL MENT H-UK
JI Child Adolesc. Ment. Health
PD MAY
PY 2013
VL 18
IS 2
BP 109
EP 115
DI 10.1111/j.1475-3588.2012.00667.x
PG 7
WC Psychology, Clinical; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA 126GN
UT WOS:000317601300007
ER
PT J
AU Conn, C
AF Conn, Carmel
TI Play-Based Interventions for Children and Adolescents with Autism
Spectrum Disorders
SO CHILD AND ADOLESCENT MENTAL HEALTH
LA English
DT Book Review
C1 [Conn, Carmel] Univ Bristol, Grad Sch Educ, Bristol BS8 1TH, Avon, England.
RP Conn, C (reprint author), Univ Bristol, Grad Sch Educ, Bristol BS8 1TH, Avon, England.
CR Rubin L. C., 2012, PLAY BASED INTERVENT
NR 1
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1475-357X
J9 CHILD ADOL MENT H-UK
JI Child Adolesc. Ment. Health
PD MAY
PY 2013
VL 18
IS 2
BP 125
EP 126
DI 10.1111/camh.12031_6
PG 2
WC Psychology, Clinical; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA 126GN
UT WOS:000317601300015
ER
PT J
AU Thompson, E
AF Thompson, Emily
TI Sleep Difficulties and Autism Spectrum Disorders: A Guide for Parents
and Professionals
SO CHILD AND ADOLESCENT MENTAL HEALTH
LA English
DT Book Review
C1 [Thompson, Emily] Northumberland Tyne & Wear NHS Trust, Northumberland, England.
RP Thompson, E (reprint author), Northumberland Tyne & Wear NHS Trust, Northumberland, England.
CR AITKEN KJ, 2012, SLEEP DIFFICULTIES A
NR 1
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1475-357X
J9 CHILD ADOL MENT H-UK
JI Child Adolesc. Ment. Health
PD MAY
PY 2013
VL 18
IS 2
BP 127
EP 127
DI 10.1111/camh.12031_10
PG 1
WC Psychology, Clinical; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA 126GN
UT WOS:000317601300019
ER
PT J
AU Carter, MT
Scherer, SW
AF Carter, M. T.
Scherer, S. W.
TI Autism spectrum disorder in the genetics clinic: a review
SO CLINICAL GENETICS
LA English
DT Review
DE autism spectrum disorder copy; number variant; diagnosis genetic;
testing; microarray; synapse
ID FRAGILE-X-SYNDROME; DE-NOVO MUTATIONS; UTAH EPIDEMIOLOGIC SURVEY; 22Q13
DELETION SYNDROME; COPY NUMBER VARIATION; RECURRENCE RISK; DEVELOPMENTAL
DISORDERS; CODING SEQUENCE; MECP2 MUTATIONS; SYNDROME REGION
AB Carter MT, Scherer SW. Autism spectrum disorder in the genetics clinic: a review. Clin Genet 2013: 83: 399-407. (C) John Wiley & Sons A/S. Published by Blackwell Publishing Ltd, 2013 Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders affecting social communication, language and behavior. The underlying cause(s) in a given individual is often elusive, with the exception of clinically recognizable genetic syndromes with readily available molecular diagnosis, such as fragile X syndrome. Clinical geneticists approach patients with ASDs by ruling out known genetic and genomic syndromes, leaving more than 80% of families without a definitive diagnosis and an uncertain risk of recurrence. Advances in microarray technology and next-generation sequencing are revealing rare variants in genes with important roles in synapse formation, function and maintenance. This review will focus on the clinical approach to ASDs, given the current state of knowledge about their complex genetic architecture.
C1 [Carter, M. T.] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada.
[Scherer, S. W.] Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1X8, Canada.
[Scherer, S. W.] Hosp Sick Children, Program Genet & Genom Biol, Toronto, ON M5G 1X8, Canada.
[Scherer, S. W.] Univ Toronto, McLaughlin Ctr, Toronto, ON, Canada.
[Scherer, S. W.] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.
RP Carter, MT (reprint author), Hosp Sick Children, Div Clin & Metab Genet, 555 Univ Ave, Toronto, ON M5G 1X8, Canada.
EM melissa.carter@sickkids.ca
RI Scherer, Stephen /B-3785-2013
OI Scherer, Stephen /0000-0002-8326-1999
FU University of Toronto McLaughlin Centre; NeuroDevNet
FX The authors wish to thank Dr Janet Buchanan and Dr Bridget Fernandez for
helpful comments on the manuscript. S. W. S. holds the GlaxoSmithKline
Pathfinder Chair in Genome Sciences at the University of Toronto and the
Hospital for Sick Children. This work was supported by funds from the
University of Toronto McLaughlin Centre and NeuroDevNet.
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NR 91
TC 26
Z9 27
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0009-9163
J9 CLIN GENET
JI Clin. Genet.
PD MAY
PY 2013
VL 83
IS 5
BP 399
EP 407
DI 10.1111/cge.12101
PG 9
WC Genetics & Heredity
SC Genetics & Heredity
GA 133TQ
UT WOS:000318163900001
PM 23425232
ER
PT J
AU Baranek, GT
Watson, LR
Boyd, BA
Poe, MD
David, FJ
McGuire, L
AF Baranek, Grace T.
Watson, Linda R.
Boyd, Brian A.
Poe, Michele D.
David, Fabian J.
McGuire, Lorin
TI Hyporesponsiveness to social and nonsocial sensory stimuli in children
with autism, children with developmental delays, and typically
developing children
SO DEVELOPMENT AND PSYCHOPATHOLOGY
LA English
DT Article
ID JOINT ATTENTION; SPECTRUM DISORDERS; EXPERIENCES QUESTIONNAIRE;
YOUNG-CHILDREN; ABNORMALITIES; COMMUNICATION; BEHAVIORS; MODEL; LIFE;
INDIVIDUALS
AB This cross-sectional study seeks to (a) describe developmental correlates of sensory hyporesponsiveness to social and nonsocial stimuli, (b) determine whether hyporesponsiveness is generalized across contexts in children with autism relative to controls, and (c) test the associations between hyporesponsiveness and social communication outcomes. Three groups of children ages 11-105 months (N = 178; autism 63, developmental delay 47, typical development 68) are given developmental and sensory measures including a behavioral orienting task (the Sensory Processing Assessment). Lab measures are significantly correlated with parental reports of sensory hyporesponsiveness. Censored regression models show that hyporesponsiveness decreased across groups with increasing mental age (MA). Group differences are significant but depend upon two-way interactions with MA and context (social and nonsocial). At a very young MA (e.g., 6 months), the autism group demonstrates more hyporesponsiveness to social and nonsocial stimuli (with larger effects for social) than developmental delay and typically developing groups, but at an older MA (e.g., 60 months) there are no significant differences. Hyporesponsiveness to social and nonsocial stimuli predicts lower levels of joint attention and language in children with autism. Generalized processes in attention disengagement and behavioral orienting may have relevance for identifying early risk factors of autism and for facilitating learning across contexts to support the development of joint attention and language.
C1 [Baranek, Grace T.; Watson, Linda R.; Boyd, Brian A.; Poe, Michele D.; David, Fabian J.; McGuire, Lorin] Univ N Carolina, Chapel Hill, NC 27599 USA.
RP Baranek, GT (reprint author), Univ N Carolina, Div Occupat Sci CB 7122, Chapel Hill, NC 27599 USA.
EM gbaranek@med.unc.edu
RI David, Fabian/K-6872-2013; David, Fabian/C-6028-2014
OI David, Fabian/0000-0002-3053-4295; David, Fabian/0000-0001-7780-788X
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NR 68
TC 18
Z9 18
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0954-5794
J9 DEV PSYCHOPATHOL
JI Dev. Psychopathol.
PD MAY
PY 2013
VL 25
IS 2
BP 307
EP 320
DI 10.1017/S0954579412001071
PG 14
WC Psychology, Developmental
SC Psychology
GA 136LY
UT WOS:000318364600003
PM 23627946
ER
PT J
AU Cornish, K
Cole, V
Longhi, E
Karmiloff-Smith, A
Scerif, G
AF Cornish, Kim
Cole, Victoria
Longhi, Elena
Karmiloff-Smith, Annette
Scerif, Gaia
TI Mapping developmental trajectories of attention and working memory in
fragile X syndrome: Developmental freeze or developmental change?
SO DEVELOPMENT AND PSYCHOPATHOLOGY
LA English
DT Article
ID DEFICIT/HYPERACTIVITY DISORDER; NEUROPSYCHOLOGICAL PROFILE;
WILLIAMS-SYNDROME; YOUNG MALES; CHILDREN; BOYS; HYPERACTIVITY; DEFICITS;
AUTISM
AB Fragile X syndrome (FXS) has a characteristic cognitive "signature" that by late childhood includes core weaknesses in attention and working memory (WM), but their earlier developmental trajectories remain uncharted. Using a combined cross-sectional and prospective longitudinal design, we tested whether early profiles of attention and WM impairment in FXS indicate developmental freeze or developmental change. In Study 1, 26 young boys with FXS and 55 typically developing (TD) boys completed two experimental paradigms designed to assess cognitive aspects of attention and WM, in addition to behavioral indices of inattention and hyperactivity. Study 2 mapped longitudinal changes in 21 children with FXS and 21 TD children. In Study 1, significant weaknesses emerged for boys with FXS, with no substantial improvement over chronological age. Mapping performance against mental age level revealed delay, but it also yielded a similar attention and WM profile to TD boys. In Study 2, longitudinal improvements for boys with FXS paralleled those in TD children. In conclusion, cognitive attention and WM, although delayed in FXS, reveal developmental change, rather than "arrest." Our findings underscore the need for going beyond cross-sectional group comparisons and gross behavioral indices to map cognitive changes longitudinally in developmental disorders.
C1 [Cornish, Kim] Monash Univ, Clayton, Vic 3800, Australia.
[Cole, Victoria; Longhi, Elena; Scerif, Gaia] Univ Oxford, Oxford OX1 3UD, England.
[Karmiloff-Smith, Annette] Univ London, London WC1E 7HU, England.
RP Scerif, G (reprint author), Univ Oxford, Dept Expt Psychol, S Parks Rd, Oxford OX1 3UD, England.
EM gaia.scerif@psy.ox.ac.uk
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NR 37
TC 7
Z9 7
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0954-5794
J9 DEV PSYCHOPATHOL
JI Dev. Psychopathol.
PD MAY
PY 2013
VL 25
IS 2
BP 365
EP 376
DI 10.1017/S0954579412001113
PG 12
WC Psychology, Developmental
SC Psychology
GA 136LY
UT WOS:000318364600007
PM 23627950
ER
PT J
AU Boosani, CS
Agrawal, DK
AF Boosani, Chandra S.
Agrawal, Devendra K.
TI PTEN modulators: a patent review
SO EXPERT OPINION ON THERAPEUTIC PATENTS
LA English
DT Review
DE cancer; cardiovascular diseases; kinases; modulators; obesity;
phosphatase; PTEN; transcription factors
ID TUMOR-SUPPRESSOR PTEN; PROSTATE-CANCER CELLS; NF-KAPPA-B;
TENSIN-HOMOLOG; BREAST-CANCER; PROTEIN STABILITY; INDUCED APOPTOSIS;
ACTIVATES PTEN; INHIBITS PTEN; UP-REGULATION
AB Introduction: PTEN (phosphatase and tensin homolog deleted on chromosome 10) plays a pivotal role in controlling intracellular signaling for cell survival and proliferation by inhibiting the PI3K/Akt pathway, and its dysfunction is associated with several neoplastic diseases. PTEN is frequently found mutated in many pathological conditions highlighting its importance in normal physiological function. Unlike several cellular proteins which are activated by phosphorylation, PTEN is inactivated upon phosphorylation by specific kinases which phosphorylate serine and threonine residues in its C-terminal region. Therefore, development of therapeutic agents that specifically target kinases and kinase-domain-containing proteins affecting PTEN would lead to the treatment of PTEN-related diseases.
Areas covered: With increasing evidence on the role of PTEN in many human diseases, the present review focuses on the clinical relevance of PTEN with a comprehensive list of currently identified modulators of PTEN, and proposes potentially novel molecular targets which could aid in the development of drug candidates for the treatment of PTEN-related diseases such as cardiovascular diseases, diabetes, obesity, cancer, autism, Parkinson's and Alzheimer's diseases.
Expert opinion: This review describes several target sites that could help in the development of novel drug candidates to regulate or restore the normal physiological functions of PTEN and are essential in the treatment of human diseases where PTEN plays a pivotal role.
C1 [Boosani, Chandra S.; Agrawal, Devendra K.] Creighton Univ, Sch Med, Dept Biomed Sci, Omaha, NE 68178 USA.
[Agrawal, Devendra K.] Creighton Univ, Sch Med, Dept Internal Med, Omaha, NE 68178 USA.
[Agrawal, Devendra K.] Creighton Univ, Sch Med, Dept Med Microbiol & Immunol, Omaha, NE 68178 USA.
[Agrawal, Devendra K.] Creighton Univ, Sch Med, Ctr Clin & Translat Sci, Omaha, NE 68178 USA.
RP Agrawal, DK (reprint author), Creighton Univ, Sch Med, Dept Biomed Sci, CRISS 2 Room 510,2500 Calif Plaza, Omaha, NE 68178 USA.
EM DevendraAgrawal@creighton.edu
FU National Heart, Lung, and Blood Institute of the National Institutes of
Health [R01HL090580, R01HL104516, R01HL112597]
FX The authors declare no conflict of interest. Research reported in this
publication was supported by the National Heart, Lung, and Blood
Institute of the National Institutes of Health under Award Numbers
R01HL090580, R01HL104516, and R01HL112597.
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NR 96
TC 8
Z9 8
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 MAY
PY 2013
VL 23
IS 5
BP 569
EP 580
DI 10.1517/13543776.2013.768985
PG 12
WC Chemistry, Medicinal; Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA 130RI
UT WOS:000317936300003
PM 23379765
ER
PT J
AU Hart, R
Norman, RJ
AF Hart, Roger
Norman, Robert J.
TI The longer-term health outcomes for children born as a result of IVF
treatment. Part IIMental health and development outcomes
SO HUMAN REPRODUCTION UPDATE
LA English
DT Review
DE IVF; ICSI; ART; long-term outcome; mental health
ID IN-VITRO FERTILIZATION; INTRACYTOPLASMIC SPERM INJECTION; ASSISTED
REPRODUCTIVE TECHNOLOGIES; SPONTANEOUSLY CONCEIVED CHILDREN; AUTISM
SPECTRUM DISORDERS; FOLLOW-UP; CEREBRAL-PALSY; PSYCHOMOTOR DEVELOPMENT;
INFERTILITY TREATMENT; PARENTAL INFERTILITY
AB Limited data exist with regard to longer-term mental health and psychological functioning of children born from IVF treatment. With the known adverse perinatal outcome for children born from IVF treatment, it would be expected that there is a negative impact upon their mental development.
A search strategy restricted to studies relating to the medical condition of children of at least 1 year of age, born from IVF treatment was performed to include case series, data linkage and prospective studies published from 1 January 2000 to 1 April 2012.
Limited long-term follow-up data suggest that there is an increase in the incidence of cerebral palsy and neurodevelopmental delay related to the confounders of prematurity and low birthweight. Previous reports of associations with autism and attention-deficit disorder are believed to be related to maternal and obstetric factors. There exists a potential increase in the prevalence of early adulthood clinical depression and binge drinking in the offspring of IVF, with the reassuring data of no changes with respect to cognitive development, school performance, social functioning and behaviour. Whether these potential associations are related to the IVF treatment, the adverse obstetric outcomes associated with IVF treatment, the genetic or subsequent environmental influences on the children is yet to be determined.
In general, the longer-term mental and emotional health outcome for children born from IVF treatment is reassuring, and is very similar to that of naturally conceived children; however, further studies are required to explore any association with depression, and its causality in more detail.
C1 [Hart, Roger] Univ Western Australia, Sch Womens & Infants Hlth, King Edward Mem Hosp, Perth, WA 6008, Australia.
[Hart, Roger] Fertil Specialists Western Australia, Perth, WA 6010, Australia.
[Norman, Robert J.] Univ Adelaide, Robinson Inst, Fertil SA, Adelaide, SA 5006, Australia.
RP Hart, R (reprint author), Univ Western Australia, Sch Womens & Infants Hlth, King Edward Mem Hosp, Perth, WA 6008, Australia.
EM roger.hart@uwa.edu.au
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NR 36
TC 22
Z9 23
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1355-4786
J9 HUM REPROD UPDATE
JI Hum. Reprod. Update
PD MAY-JUN
PY 2013
VL 19
IS 3
BP 244
EP 250
DI 10.1093/humupd/dmt002
PG 7
WC Obstetrics & Gynecology; Reproductive Biology
SC Obstetrics & Gynecology; Reproductive Biology
GA 133AG
UT WOS:000318109200005
PM 23449643
ER
PT J
AU Gentile, I
Bravaccio, C
Bonavolta, R
Zappulo, E
Scarica, S
Riccio, MP
Settimi, A
Portella, G
Pascotto, A
Borgia, G
AF Gentile, Ivan
Bravaccio, Carmela
Bonavolta, Raffaele
Zappulo, Emanuela
Scarica, Sabrina
Riccio, Maria Pia
Settimi, Alessandro
Portella, Giuseppe
Pascotto, Antonio
Borgia, Guglielmo
TI Response to Measles-Mumps-Rubella Vaccine in Children with Autism
Spectrum Disorders
SO IN VIVO
LA English
DT Article
DE Autism spectrum disorders; autistic disorder; MMR vaccine;
seropositivity
ID PERVASIVE DEVELOPMENTAL DISORDERS; MYELIN BASIC-PROTEIN; CAUSAL
ASSOCIATION; SCLEROSING PANENCEPHALITIS; MULTIPLE-SCLEROSIS; MMR
VACCINE; NO EVIDENCE; POPULATION; ANTIBODIES; VIRUS
AB Background/Aim: The etiology of autism spectrum disorders (ASD) is unknown. The measles-mumps-rubella (MMR) vaccination has been in the past implicated in ASD pathogenesis. The aim of our study was to evaluate the rate of seropositivity and the levels of antibodies against MMR antigens in a cohort of children with ASD compared to control children. Patients and Methods: In a cohort of children with ASD and same-age healthy controls, we measured levels and seropositivity of antibodies against MMR. Results: A total of 60 children, 31 with ASD and 29 controls were enrolled. The seropositivity rate and levels of all the three antibodies were similar in cases and controls. Conclusion: Children with ASD have a similar level and seropositivity rate of antibodies against the MMR vaccine to same-age controls. As persistent infections are typically associated with high antibody levels, our results support the arguments against a role of MMR vaccination as a causal factor or co-factor in development of ASD.
C1 [Gentile, Ivan; Zappulo, Emanuela; Scarica, Sabrina; Borgia, Guglielmo] Univ Naples Federico II, Dept Clin Med & Surg, Infect Dis Sect, Naples, Italy.
Univ Naples Federico II, Dept Med Translat Sci, I-80131 Naples, Italy.
[Bravaccio, Carmela; Bonavolta, Raffaele; Settimi, Alessandro; Portella, Giuseppe] Univ Naples Federico II, Dept Med Translat Sci, Naples, Italy.
[Riccio, Maria Pia; Pascotto, Antonio] Univ Naples 2, Dept Mental & Phys Hlth & Prevent Med, Naples, Italy.
RP Bravaccio, C (reprint author), Univ Naples Federico II, Dept Med Translat Sci, Via S Pansini 5, I-80131 Naples, Italy.
EM carmela.bravaccio@unina.it
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NR 47
TC 4
Z9 4
PU INT INST ANTICANCER RESEARCH
PI ATHENS
PA EDITORIAL OFFICE 1ST KM KAPANDRITIOU-KALAMOU RD KAPANDRITI, PO BOX 22,
ATHENS 19014, GREECE
SN 0258-851X
J9 IN VIVO
JI In Vivo
PD MAY-JUN
PY 2013
VL 27
IS 3
BP 377
EP 382
PG 6
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA 135VP
UT WOS:000318319100012
PM 23606694
ER
PT J
AU Zirkel, PA
AF Zirkel, Perry A.
TI Recent Legal Developments of Interest to Special Educators
SO INTERVENTION IN SCHOOL AND CLINIC
LA English
DT Article
DE law; legal; policy; Section 504; ADA
AB An overview is provided of five recent legal developments that merit special attention of special educators: (a) the amended Individuals with Disabilities Education Improvement Act (IDEIA) regulations concerning parental consent, including subsequent agency interpretations concerning their practical application; (b) the IDEIA provisions and resulting state laws and implementation issues for response to intervention; (c) the IDEIA provision for basing the individualized education program statement of special education on peer-reviewed research to the extent practicable and subsequent case law applying this provision; (d) the case law on behalf of students with autism spectrum disorder, including the issues of eligibility and free appropriate public education or least restrictive environment; and (e) the IDEIA revisions concerning discipline, with special attention to suspensions/expulsions, disproportionality, and the corresponding Section 504 requirements.
C1 Lehigh Univ, Bethlehem, PA 18015 USA.
RP Zirkel, PA (reprint author), Lehigh Univ, 111 Res Dr, Bethlehem, PA 18015 USA.
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[Anonymous], 2010, COMMUNICATION
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Zirkel P. A., 2010, TEACHING EXCEPTIONAL, V43, P60
Zirkel P. A., 2011, W ED LAW REPORTER, V268, P1
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Zirkel P. A., 2012, J SPECIAL ED LEADERS, V25, P99
Zirkel PA, 2010, REM SPEC EDUC, V31, P378, DOI 10.1177/0741932509355993
NR 12
TC 2
Z9 2
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1053-4512
J9 INTERV SCH CLIN
JI Interv. Sch. Clin.
PD MAY
PY 2013
VL 48
IS 5
BP 319
EP 322
PG 4
WC Education, Special
SC Education & Educational Research
GA 132LH
UT WOS:000318068900008
ER
PT J
AU Ajamian, M
Kosofsky, BE
Wormser, GP
Rajadhyaksha, AM
Alaedini, A
AF Ajamian, Mary
Kosofsky, Barry E.
Wormser, Gary P.
Rajadhyaksha, Anjali M.
Alaedini, Armin
TI Serologic Markers of Lyme Disease in Children With Autism
SO JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
LA English
DT Letter
C1 [Ajamian, Mary; Alaedini, Armin] Columbia Univ, Dept Med, Med Ctr, New York, NY 10027 USA.
[Kosofsky, Barry E.; Rajadhyaksha, Anjali M.] Weill Cornell Med Coll, Dept Pediat, New York, NY USA.
[Wormser, Gary P.] New York Med Coll, Div Infect Dis, Valhalla, NY 10595 USA.
RP Ajamian, M (reprint author), Columbia Univ, Dept Med, Med Ctr, New York, NY 10027 USA.
EM aa819@columbia.edu
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NR 4
TC 2
Z9 2
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA
SN 0098-7484
EI 1538-3598
J9 JAMA-J AM MED ASSOC
JI JAMA-J. Am. Med. Assoc.
PD MAY 1
PY 2013
VL 309
IS 17
BP 1771
EP 1773
DI 10.1001/jama.2013.618
PG 3
WC Medicine, General & Internal
SC General & Internal Medicine
GA 134SU
UT WOS:000318235600018
PM 23632714
ER
PT J
AU Anitha, A
Thanseem, I
Nakamura, K
Yamada, K
Iwayama, Y
Toyota, T
Iwata, Y
Suzuki, K
Sugiyama, T
Tsujii, M
Yoshikawa, T
Mori, N
AF Anitha, Ayyappan
Thanseem, Ismail
Nakamura, Kazuhiko
Yamada, Kazuo
Iwayama, Yoshimi
Toyota, Tomoko
Iwata, Yasuhide
Suzuki, Katsuaki
Sugiyama, Toshiro
Tsujii, Masatsugu
Yoshikawa, Takeo
Mori, Norio
TI Protocadherin alpha (PCDHA) as a novel susceptibility gene for autism
SO JOURNAL OF PSYCHIATRY & NEUROSCIENCE
LA English
DT Article
ID BRAIN-SEROTONIN; FAMILY; DISORDERS; SPECTRUM; NEURONS; CLUSTER; GENOME
AB Background: Synaptic dysfunction has been shown to be involved in the pathogenesis of autism. We hypothesized that the protocadherin alpha gene cluster (PCDHA), which is involved in synaptic specificity and in serotonergic innervation of the brain, could be a suitable candidate gene for autism. Methods: We examined 14 PCDHA single nucleotide polymorphisms (SNPs) for genetic association with autism in DNA samples of 3211 individuals (841 families, including 574 multiplex families) obtained from the Autism Genetic Resource Exchange. Results: Five SNPs (rs251379, rs1119032, rs17119271, rs155806 and rs17119346) showed significant associations with autism. The strongest association (p < 0.001) was observed for rs1119032 (z score of risk allele G = 3.415) in multiplex families; SNP associations withstand multiple testing correction in multiplex families (p = 0.041). Haplotypes involving rs1119032 showed very strong associations with autism, withstanding multiple testing corrections. In quantitative transmission disequilibrium testing of multiplex families, the G allele of rs1119032 showed a significant association (p = 0.033) with scores on the Autism Diagnostic Interview-Revised (ADI-R)_D (early developmental abnormalities). We also found a significant difference in the distribution of ADI-R_A (social interaction) scores between the A/A, A/G and G/G genotypes of rs17119346 (p = 0.002). Limitations: Our results should be replicated in an in dependent population and/or in samples of different racial backgrounds. Conclusion: Our study provides strong genetic evidence of PCDHA as a potential candidate gene for autism.
C1 [Anitha, Ayyappan; Suzuki, Katsuaki; Tsujii, Masatsugu; Mori, Norio] Hamamatsu Univ Sch Med, Res Ctr Child Mental Dev, Hamamatsu, Shizuoka 4313192, Japan.
[Thanseem, Ismail; Nakamura, Kazuhiko; Iwata, Yasuhide; Mori, Norio] Hamamatsu Univ Sch Med, Dept Psychiat & Neurol, Hamamatsu, Shizuoka 4313192, Japan.
[Yamada, Kazuo; Iwayama, Yoshimi; Toyota, Tomoko; Yoshikawa, Takeo] RIKEN Brain Sci Inst, Lab Mol Psychiat, Wako, Saitama, Japan.
[Sugiyama, Toshiro] Hamamatsu Univ Sch Med, Dept Child & Adolescent Psychiat, Hamamatsu, Shizuoka 4313192, Japan.
[Tsujii, Masatsugu] Chukyo Univ, Fac Sociol, Toyota, Japan.
RP Nakamura, K (reprint author), Hamamatsu Univ Sch Med, Dept Psychiat & Neurol, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, Japan.
EM nakamura@hama-med.ac.jp
FU National Institute of Mental Health [1U24MH081810]; Ministry of
Education, Culture, Sports, Science, and Technology of Japan [23591700,
23390288]
FX 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). This work was supported by Grants-in-Aid for
Scientific Research from the Ministry of Education, Culture, Sports,
Science, and Technology of Japan (23591700 to A. Ayyappan and 23390288
to K. Nakamura). We thank Tae Takahashi for technical assistance.
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TC 4
Z9 4
PU CMA-CANADIAN MEDICAL ASSOC
PI OTTAWA
PA 1867 ALTA VISTA DR, OTTAWA, ONTARIO K1G 5W8, CANADA
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UT WOS:000318040000007
PM 23031252
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Veenstra-VanderWeele, J
Lord, C
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Veenstra-VanderWeele, Jeremy
Lord, Catherine
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SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Editorial Material
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C1 [King, Bryan H.] Univ Washington, Seattle, WA 98105 USA.
[King, Bryan H.] Seattle Childrens Autism Ctr, Seattle, WA 98105 USA.
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RP King, BH (reprint author), Seattle Childrens Autism Ctr, 4800 Sand Point Way NE,POB 5371-M1-1, Seattle, WA 98105 USA.
EM bhking@u.washington.edu
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PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
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BP 454
EP 457
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PG 4
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GA 136WW
UT WOS:000318395100002
PM 23622845
ER
PT J
AU Narayanan, S
Georgiou, PG
AF Narayanan, Shrikanth
Georgiou, Panayiotis G.
TI Behavioral Signal Processing: Deriving Human Behavioral Informatics From
Speech and Language
SO PROCEEDINGS OF THE IEEE
LA English
DT Article
DE Affective computing; behavior; computational psychology; computational
social sciences; emotions; health applications; multimodal signal
processing; natural language processing; speech understanding
ID DIAGNOSTIC OBSERVATION SCHEDULE; HIGH-FUNCTIONING AUTISM; EMOTION
RECOGNITION; SPEAKER DIARIZATION; COUPLE THERAPY; CLASSIFICATION;
CHILDREN; MODEL; PATTERNS; FEATURES
AB The expression and experience of human behavior are complex and multimodal and characterized by individual and contextual heterogeneity and variability. Speech and spoken language communication cues offer an important means for measuring and modeling human behavior. Observational research and practice across a variety of domains from commerce to healthcare rely on speech-and language-based informatics for crucial assessment and diagnostic information and for planning and tracking response to an intervention. In this paper, we describe some of the opportunities as well as emerging methodologies and applications of human behavioral signal processing (BSP) technology and algorithms for quantitatively understanding and modeling typical, atypical, and distressed human behavior with a specific focus on speech-and language-based communicative, affective, and social behavior. We describe the three important BSP components of acquiring behavioral data in an ecologically valid manner across laboratory to real-world settings, extracting and analyzing behavioral cues from measured data, and developing models offering predictive and decision-making support. We highlight both the foundational speech and language processing building blocks as well as the novel processing and modeling opportunities. Using examples drawn from specific real-world applications ranging from literacy assessment and autism diagnostics to psychotherapy for addiction and marital well being, we illustrate behavioral informatics applications of these signal processing techniques that contribute to quantifying higher level, often subjectively described, human behavior in a domain-sensitive fashion.
C1 [Narayanan, Shrikanth; Georgiou, Panayiotis G.] Univ So Calif, Ming Hsieh Dept Elect Engn, Los Angeles, CA 90089 USA.
RP Narayanan, S (reprint author), Univ So Calif, Ming Hsieh Dept Elect Engn, Los Angeles, CA 90089 USA.
EM shri@sipi.usc.edu; georgiou@sipi.usc.edu
FU National Science Foundation (NSF); National Institutes of Health (NIH);
U.S. Department of Defense (DoD)
FX Manuscript received May 28, 2012; revised August 23, 2012 and November
16, 2012; accepted December 6, 2012. Date of publication February 7,
2013; date of current version April 17, 2013. This work was supported by
the National Science Foundation (NSF), the National Institutes of Health
(NIH), and the U.S. Department of Defense (DoD). This paper is based on
the invited lecture material presented by S. Narayanan at the
International Conference on Multimedia and Expo (ICME), Barcelona,
Spain, July 2011; the ACM Multimedia International Workshop on Social
Signal Processing (SSPW), Scottsdale, AZ, November-December 2011; and
the Automatic Speech Recognition and Understanding Workshop (ASRU),
Honolulu, HI, December 2011.
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NR 213
TC 11
Z9 11
PU IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC
PI PISCATAWAY
PA 445 HOES LANE, PISCATAWAY, NJ 08855-4141 USA
SN 0018-9219
EI 1558-2256
J9 P IEEE
JI Proc. IEEE
PD MAY
PY 2013
VL 101
IS 5
SI SI
BP 1203
EP 1233
DI 10.1109/JPROC.2012.2236291
PG 31
WC Engineering, Electrical & Electronic
SC Engineering
GA 133SK
UT WOS:000318159900011
ER
PT J
AU Wei, X
Lenz, KB
Blackorby, J
AF Wei, Xin
Lenz, Keith B.
Blackorby, Jose
TI Math Growth Trajectories of Students With Disabilities: Disability
Category, Gender, Racial, and Socioeconomic Status Differences From Ages
7 to 17
SO REMEDIAL AND SPECIAL EDUCATION
LA English
DT Article
DE math; growth trajectories; hierarchical linear modeling; disability
category; gender; race; SES
ID LEARNING-DISABILITIES; MATHEMATICS; METAANALYSIS; ACHIEVEMENT;
PERFORMANCE; DEFICITS; CHILDREN; GRADES; SCHOOL; GAP
AB This study examined math growth trajectories by disability category, gender, race, and socioeconomic status using a nationally representative sample of students ages 7 to 17. The students represented 11 federal disability categories. Compared with the national norming sample, students in all 11 disability categories had lower math achievement levels and slower growth in elementary school. In secondary school, however, the math growth rate slowed down and was similar for all students. Among students with disabilities, those with speech or visual impairments had the highest math achievement, and those with multiple disabilities or intellectual disability had the lowest. Relative to students with learning disabilities on calculation, growth rates for students with autism were significantly slower and those for students with speech impairments decelerated significantly faster. For students with disabilities, gender, White-Black, and socioeconomic status math achievement gaps were significant and stable over time, whereas White-Hispanic math achievement gaps widened over time.
C1 [Wei, Xin; Lenz, Keith B.; Blackorby, Jose] SRI Int, Menlo Pk, CA 94025 USA.
RP Wei, X (reprint author), SRI Int, 333 Ravenswood Ave,BS169, Menlo Pk, CA 94025 USA.
EM xin.wei@sri.com
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NR 31
TC 6
Z9 6
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0741-9325
J9 REM SPEC EDUC
JI Remedial Spec. Educ.
PD MAY-JUN
PY 2013
VL 34
IS 3
BP 154
EP 165
DI 10.1177/0741932512448253
PG 12
WC Education, Special
SC Education & Educational Research
GA 135JQ
UT WOS:000318284800003
ER
PT J
AU Lindenmayer, JP
McGurk, SR
Khan, A
Kaushik, S
Thanju, A
Hoffman, L
Valdez, G
Wance, D
Herrmann, E
AF Lindenmayer, Jean-Pierre
McGurk, Susan R.
Khan, Anzalee
Kaushik, Saurabh
Thanju, Amod
Hoffman, Lisa
Valdez, Gladys
Wance, Deborah
Herrmann, Edith
TI Improving Social Cognition in Schizophrenia: A Pilot Intervention
Combining Computerized Social Cognition Training With Cognitive
Remediation
SO SCHIZOPHRENIA BULLETIN
LA English
DT Article
DE schizophrenia; social cognition; cognitive remediation
ID FACIAL AFFECT RECOGNITION; RANDOMIZED CONTROLLED-TRIAL; HIGH-FUNCTIONING
AUTISM; ENHANCEMENT THERAPY; EMOTION PERCEPTION; MENTAL-ILLNESS;
EFFICACY; NEUROCOGNITION; PERFORMANCE; SCALE
AB Background: Social cognition is significantly impaired in schizophrenia and contributes to poor community functioning. This study examined whether cognitive remediation (CR; COGPACK), shown to improve neurocognition, improves an integral component of social cognition, emotion perception, compared with CR combined with a computerized Emotion Perception intervention (Mind Reading: Interactive Guide to Emotions [MRIGE]). Methods: 59 stable schizophrenia or schizoaffective predominantly inpatients were randomized to either CR (N = 27) alone or CR + MRIGE (N = 32) for 12 weeks. Assessments included the Facial Emotion Identification Task (FEIT), Facial Emotion Discrimination Task (FEDT), MCCB-MATRICS, Personal and Social Performance Scale, and the Positive and Negative Syndrome Scale. Results: There was a significant group-by-time effect on FEIT (F = 11.509, P = .004); CR + MRIGE demonstrated significantly greater improvement than CR alone (CR + MRIGE, Z = 1.89, P = .05; CR alone Z = 0.57, P = .13). There was significant group-by-time effect on FEDT (F = 5.663, P = .022); CR + MRIGE demonstrated significantly greater improvement than CR alone (CR + MRIGE, Z = 1.90, P = .05; CR alone Z = 0.67, P = .21). There was also a significant group by time effect for social cognition, measured by the Mayer-Salovey-Caruso Emotional Intelligence Test (F = 5.473, P = .050): CR + MRIGE demonstrated significantly greater improvement than CR alone (CR + MRIGE, Z = 1.98, P = .02; CR alone, Z = 1.00, P =.05). Conclusions: Combined CR with emotion perception remediation produced greater improvements in emotion recognition, emotion discrimination, social functioning, and neurocognition compared with CR alone in chronic schizophrenia.
C1 [Lindenmayer, Jean-Pierre; Khan, Anzalee; Kaushik, Saurabh; Thanju, Amod; Hoffman, Lisa; Valdez, Gladys; Wance, Deborah; Herrmann, Edith] Manhattan Psychiat Ctr, New York, NY USA.
[Lindenmayer, Jean-Pierre; Kaushik, Saurabh] NYU, Med Ctr, New York, NY 10016 USA.
[Lindenmayer, Jean-Pierre; Khan, Anzalee; Kaushik, Saurabh; Thanju, Amod] Nathan S Kline Inst Psychiat Res, Orangeburg, NY 10962 USA.
[McGurk, Susan R.] Boston Univ, Ctr Psychiat Rehabil, Boston, MA 02215 USA.
[Khan, Anzalee] ProPhase Training Grp, New York, NY USA.
RP Lindenmayer, JP (reprint author), Manhattan Psychiat Ctr, Psychopharmacol Res Dept, 600 E 125 St, Wards Isl, NY 10035 USA.
EM Lindenmayer@nki.rfmh.org
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NR 49
TC 11
Z9 11
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0586-7614
J9 SCHIZOPHRENIA BULL
JI Schizophr. Bull.
PD MAY
PY 2013
VL 39
IS 3
BP 507
EP 517
DI 10.1093/schbul/sbs120
PG 11
WC Psychiatry
SC Psychiatry
GA 133IN
UT WOS:000318132200010
PM 23125396
ER
PT J
AU Zhang, YB
Bolivar, VJ
Lawrence, DA
AF Zhang, Yubin
Bolivar, Valerie J.
Lawrence, David A.
TI Maternal Exposure to Mercury Chloride During Pregnancy and Lactation
Affects the Immunity and Social Behavior of Offspring
SO TOXICOLOGICAL SCIENCES
LA English
DT Article
DE mercury; mouse social behavior; IgG antibrain antibodies; maternal
influences
ID AUTISM SPECTRUM DISORDER; INDUCED AUTOIMMUNITY; NEUROBEHAVIORAL CHANGES;
MURINE SUSCEPTIBILITY; AUTOANTIBODY PROFILES; REPETITIVE BEHAVIOR;
INBRED STRAINS; T-CELLS; MICE; METHYLMERCURY
AB Developmental HgCl2 exposures of F1 offspring (H-2(q/s)) from unsociable SJL/J (H-2(s)) dams with high susceptibility to Hg-induced autoimmunity (SFvF1) and from highly sociable FVB/NJ (FVB; H-2(q)) dams with lower susceptibility to Hg-induced autoimmunity (FvSF1) were investigated. Hg exposure increased the serum IgG levels of all offspring at postnatal day 21 (pnd21) and of SJL/J dams but not of FVB dams. Serum IgG anti-brain antibody (Ab) levels of pnd21 SFvF1 offspring and SJL dams were higher than those of the FvSF1 offspring and FVB dams, but Hg only increased the titers of the FVB dams and their offspring. Hg significantly elevated the presence of IgG in all brain regions of the pnd21 SFvF1 offspring, and the SFvF1 offspring had greater amounts of IgG in the brain than the FvSF1 offspring, which had Hg-induced increases in only two brain regions. Cytokine levels were elevated in the brain regions of Hg-treated pnd21 SFvF1 but not of FvSF1 offspring, and SFvF1 females had more brain regions expressing cytokines than the males. At pnd70, the serum IgG, serum anti-brain Abs, amounts of brain IgG, and brain cytokine levels of all of the Hg-treated offspring were equivalent to those of their appropriate controls, suggesting that developmental Hg exposure did not induce chronic immunological effects. However, the social behaviors of Hg-exposed SFvF1 offspring at pnd70 were significantly impaired, and SFvF1 females displayed greater decline in social behaviors than males, suggesting that the higher neuroinflammation of SFvF1 females earlier in life is associated with the altered behavior. Thus, developmental Hg exposure induces long-lasting effects on social behavior of offspring, which is dependent on sex and genetics and the induction of neuroinflammation.
C1 New York State Dept Hlth, Wadsworth Ctr, Albany, NY 12201 USA.
SUNY Albany, Sch Publ Hlth, Albany, NY 12201 USA.
RP Lawrence, DA (reprint author), Wadsworth Ctr, Immunol Lab, Albany, NY 12201 USA.
EM lawrencd@wadsworth.org
FU National Institutes of Environmental Health Sciences [R01 ES011135, R21
ES013857]
FX National Institutes of Environmental Health Sciences (R01 ES011135, R21
ES013857).
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NR 57
TC 1
Z9 1
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1096-6080
J9 TOXICOL SCI
JI Toxicol. Sci.
PD MAY
PY 2013
VL 133
IS 1
BP 101
EP 111
DI 10.1093/toxsci/kft023
PG 11
WC Toxicology
SC Toxicology
GA 133LX
UT WOS:000318141000010
PM 23392568
ER
PT J
AU Anitha, A
Nakamura, K
Thanseem, I
Matsuzaki, H
Miyachi, T
Tsujii, M
Iwata, Y
Suzuki, K
Sugiyama, T
Mori, N
AF Anitha, Ayyappan
Nakamura, Kazuhiko
Thanseem, Ismail
Matsuzaki, Hideo
Miyachi, Taishi
Tsujii, Masatsugu
Iwata, Yasuhide
Suzuki, Katsuaki
Sugiyama, Toshiro
Mori, Norio
TI Downregulation of the Expression of Mitochondrial Electron Transport
Complex Genes in Autism Brains
SO BRAIN PATHOLOGY
LA English
DT Article
DE autism; electron transport complex; mitochondria; post-mortem brain
ID ANTERIOR CINGULATE CORTEX; INCREASED OXIDATIVE STRESS; SPECTRUM
DISORDERS; ENERGY-METABOLISM; PROPIONIC-ACID; CHILDREN; DYSFUNCTION;
MODEL; VOLUME; CHAIN
AB Mitochondrial dysfunction (MtD) and abnormal brain bioenergetics have been implicated in autism, suggesting possible candidate genes in the electron transport chain (ETC). We compared the expression of 84 ETC genes in the post-mortem brains of autism patients and controls. Brain tissues from the anterior cingulate gyrus, motor cortex, and thalamus of autism patients (n=8) and controls (n=10) were obtained from Autism Tissue Program, USA. Quantitative real-time PCR arrays were used to quantify gene expression. We observed reduced expression of several ETC genes in autism brains compared to controls. Eleven genes of Complex I, five genes each of Complex III and Complex IV, and seven genes of Complex V showed brain region-specific reduced expression in autism. ATP5A1 (Complex V), ATP5G3 (Complex V) and NDUFA5 (Complex I) showed consistently reduced expression in all the brain regions of autism patients. Upon silencing ATP5A1, the expression of mitogen-activated protein kinase 13 (MAPK13), a p38 MAPK responsive to stress stimuli, was upregulated in HEK 293 cells. This could have been induced by oxidative stress due to impaired ATP synthesis. We report new candidate genes involved in abnormal brain bioenergetics in autism, supporting the hypothesis that mitochondria, critical for neurodevelopment, may play a role in autism.
C1 [Anitha, Ayyappan; Matsuzaki, Hideo; Miyachi, Taishi; Tsujii, Masatsugu; Suzuki, Katsuaki; Mori, Norio] Hamamatsu Univ Sch Med, Res Ctr Child Mental Dev, Hamamatsu, Shizuoka 4313192, Japan.
[Nakamura, Kazuhiko; Thanseem, Ismail; Iwata, Yasuhide; Mori, Norio] Hamamatsu Univ Sch Med, Dept Psychiat & Neurol, Hamamatsu, Shizuoka 4313192, Japan.
[Sugiyama, Toshiro] Hamamatsu Univ Sch Med, Dept Child & Adolescent Psychiat, Hamamatsu, Shizuoka 4313192, Japan.
[Tsujii, Masatsugu] Chukyo Univ, Fac Sociol, Toyota, Japan.
RP Nakamura, K (reprint author), Hamamatsu Univ Sch Med, Dept Psychiat & Neurol, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, Japan.
EM nakamura@hama-med.ac.jp
FU PHS [R 24 MH 068855]; Ministry of Education, Culture, Sports, Science,
and Technology of Japan [23591700, 23390288]
FX We thank Dr Jane Pickett, Director of Brain Resources and Data, Autism
Tissue Program, for facilitating brain tissue collection. Human tissue
was obtained from the NICHD Brain and Tissue Bank for Developmental
Disorders at the University of Maryland, Baltimore, Maryland. Tissue
samples were also provided by the Harvard Brain Tissue Resource Center,
which is supported in part by PHS Grant No. R 24 MH 068855. This work
was supported by Grants-in-Aid for Scientific Research from the Ministry
of Education, Culture, Sports, Science, and Technology of Japan
(23591700 to AA and 23390288 to KN). We thank Tae Takahashi and Mika
Oyaizu for technical assistance.
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NR 68
TC 12
Z9 12
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1015-6305
J9 BRAIN PATHOL
JI Brain Pathol.
PD MAY
PY 2013
VL 23
IS 3
BP 294
EP 302
DI 10.1111/bpa.12002
PG 9
WC Clinical Neurology; Neurosciences; Pathology
SC Neurosciences & Neurology; Pathology
GA 129TP
UT WOS:000317865800007
PM 23088660
ER
PT J
AU Snow, WM
Fry, M
Anderson, JE
AF Snow, Wanda M.
Fry, Mark
Anderson, Judy E.
TI Increased Density of Dystrophin Protein in the Lateral Versus the Vermal
Mouse Cerebellum
SO CELLULAR AND MOLECULAR NEUROBIOLOGY
LA English
DT Article
DE Purkinje neurons; Dendrites; Quantification; Morphometry;
Immunohistochemistry
ID DUCHENNE MUSCULAR-DYSTROPHY; CENTRAL-NERVOUS-SYSTEM; AUTISM SPECTRUM
DISORDER; DEFICIENT MDX MICE; PURKINJE-CELLS; EXPRESSION; MOTOR;
LOCALIZATION; SYNAPSES; MODEL
AB Dystrophin, present in muscle, also resides in the brain, including cerebellar Purkinje neurons. The cerebellum, although historically associated with motor abilities, is also implicated in cognition. An absence of brain dystrophin in Duchenne muscular dystrophy (DMD) and in the mdx mouse model results in cognitive impairments. Localization studies of cerebellar dystrophin, however, have focused on the vermal cerebellum, associated with motor function, and have not investigated dystrophin distribution in the lateral cerebellum, considered to mediate cognitive function. The present study examined dystrophin localization in vermal and lateral cerebellar regions and across subcellular areas of Purkinje neurons in the mouse using immunohistochemistry. In both vermal and lateral cerebellum, dystrophin was restricted to puncta on somatic and dendritic membranes of Purkinje neurons. The density of dystrophin puncta was greater in the lateral than the vermal region. Neither the size of puncta nor the area of Purkinje neuron somata differed between regions. Results support the view that cognitive deficits in the DMD and the mdx model may be mediated by the loss of dystrophin, particularly in the lateral cerebellum. Findings have important implications for future studies examining the neurophysiological sequelae of neuronal dystrophin deficiency and the role of the lateral cerebellum in cognition.
C1 [Snow, Wanda M.; Fry, Mark; Anderson, Judy E.] Univ Manitoba, Dept Psychol, Winnipeg, MB R3T 2N2, Canada.
[Fry, Mark; Anderson, Judy E.] Univ Manitoba, Dept Biol Sci, Fac Sci, Winnipeg, MB R3T 2N2, Canada.
RP Anderson, JE (reprint author), Univ Manitoba, Dept Biol Sci, Fac Sci, Biol Sci Bldg,50 Sifton Rd, Winnipeg, MB R3T 2N2, Canada.
EM judith.anderson@ad.umanitoba.ca
FU Manitoba Institute for Child Health; Natural Sciences and Engineering
Research Council
FX This research was supported by an operating Grant from Manitoba
Institute for Child Health (JEA and MF) and a Postgraduate Scholarship
from the Natural Sciences and Engineering Research Council (WMS). The
funders did not contribute to the study design, interpretation, or
manuscript preparation. The authors wish to thank Ms. R. Upadhaya and
Dr. W. Mizunoya (Kyushu University) for advice with cryosectioning and
immunostaining and Dr. James Hare for assistance with the statistical
analysis.
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NR 47
TC 5
Z9 5
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0272-4340
J9 CELL MOL NEUROBIOL
JI Cell. Mol. Neurobiol.
PD MAY
PY 2013
VL 33
IS 4
BP 513
EP 520
DI 10.1007/s10571-013-9917-8
PG 8
WC Cell Biology; Neurosciences
SC Cell Biology; Neurosciences & Neurology
GA 125GM
UT WOS:000317527600006
PM 23436181
ER
PT J
AU Kanemura, H
Sano, F
Tando, T
Sugita, K
Aihara, M
AF Kanemura, Hideaki
Sano, Fumikazu
Tando, Tomoko
Sugita, Kanji
Aihara, Masao
TI Can EEG characteristics predict development of epilepsy in autistic
children?
SO EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
LA English
DT Article
DE Autism spectrum disorders (ASD); Electroencephalogram (EEG); Frontal
paroxysmal abnormality; Epilepsy
ID CHILDHOOD EPILEPSY; ACTIVE EPILEPSY; ABNORMALITIES; DISORDERS;
ADOLESCENTS; PATTERNS; SEIZURE; BENIGN; SPIKES
AB Background: The high occurrence of epilepsy in children with autism spectrum disorders (ASD) is a clear indication that ASD has a neurobiological basis. The current understanding of the association between epilepsy and ASD is still limited, but from a clinical point of view, this association should not be overlooked.
Aims: We investigated the electroencephalogram (EEG) paroxysmal abnormality in children with ASD and the incidence of later development of epilepsy.
Methods: Participants were recruited from University of Yamanashi hospital and 5 satellite hospitals between April 1, 2001 and March 31, 2005. EEG recordings and clinical evaluations were performed every 6 months for at least 6 years, focusing on paroxysmal abnormality. We scored the occurrence and the location of spikes and evaluated the relation with later development of epilepsy.
Results: The prospective study included 21 patients with ASD (12 males and 9 females) between the ages of 3 and 6 years. EEG paroxysmal abnormalities were present in 11/21 patients (52.4%). In addition, six of 21 patients (28.6%) had epilepsy at some point in their lives. The presence of frontal paroxysms was significantly associated with later development of epilepsy compared with centrotemporal paroxysmus ( p < 0.003). The type of seizure diagnosed was mainly partial; in particular, partial with secondary generalization in 4/6 (66.7%).
Conclusion: The presence of frontal paroxysms may indicate a higher risk of epilepsy in ASD. (C) 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
C1 [Kanemura, Hideaki; Sano, Fumikazu; Tando, Tomoko; Sugita, Kanji] Univ Yamanashi, Fac Med, Dept Paediat, Chuo Ku, Kofu, Yamanashi 4093898, Japan.
[Aihara, Masao] Univ Yamanashi, Interdisciplinary Grad Sch Med & Engn, Chuo Ku, Kofu, Yamanashi 4093898, Japan.
RP Kanemura, H (reprint author), Univ Yamanashi, Fac Med, Dept Paediat, Chuo Ku, Kofu, Yamanashi 4093898, Japan.
EM ykimu@yamanashi.ac.jp
FU [22591124]; [22591123]
FX This work was supported by Grants-in-Aid for Scientific Research (C)
(22591124 and 22591123).
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NR 30
TC 5
Z9 6
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1090-3798
J9 EUR J PAEDIATR NEURO
JI Eur. J. Paediatr. Neurol.
PD MAY
PY 2013
VL 17
IS 3
BP 232
EP 237
DI 10.1016/j.ejpn.2012.10.002
PG 6
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 129UW
UT WOS:000317870500003
PM 23122323
ER
PT J
AU Tsoutsou, E
Tzetis, M
Giannikou, K
Syrmou, A
Oikonomakis, V
Kosma, K
Kanioura, A
Kanavakis, E
Fryssira, H
AF Tsoutsou, Eirini
Tzetis, Maria
Giannikou, Krinio
Syrmou, Areti
Oikonomakis, Vasilis
Kosma, Konstantina
Kanioura, Anastasia
Kanavakis, Emmanuel
Fryssira, Helen
TI Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a
female patient with psychomotor retardation
SO EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
LA English
DT Article
DE Microcephaly; Psychomotor retardation; Autism; 16q2122.1 microdeletion
syndrome; Congenital heart defects; Array-CGH
ID INTERSTITIAL DELETION; AUTISM
AB A 28-month-old girl with dysmorphic craniofacial features, microcephaly, hypotonia, psychomotor retardation, failure to thrive and gastrointestinal problems was referred for clinical evaluation. Array-CGH analysis revealed one of the smallest de novo microdeletions on chromosome 16q21q22.1, 2.03 Mb in size. Advanced molecular analysis contributes to more precise genotype-phenotype correlation and accurate definition of the breakpoints in the deleted/duplicated regions. (C) 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
C1 [Tsoutsou, Eirini; Tzetis, Maria; Giannikou, Krinio; Syrmou, Areti; Oikonomakis, Vasilis; Kosma, Konstantina; Kanavakis, Emmanuel; Fryssira, Helen] Univ Athens, Sch Med, Choremio Res Lab, Dept Med Genet,Aghia Sophia Childrens Hosp, GR-11527 Athens, Greece.
[Kanioura, Anastasia] Natl Ctr Sci Res, Inst Radioisotopes & Radiodiagnost Prod, Athens, Greece.
RP Fryssira, H (reprint author), Univ Athens, Sch Med, Choremio Res Lab, Dept Med Genet,Aghia Sophia Childrens Hosp, GR-11527 Athens, Greece.
EM efrysira@med.uoa.gr
FU Alexander S. Onassis Public Benefit Foundation, Athens, Greece
FX We thank the family of the patient for their contribution. Krinio
Giannikou is supported by a scholarship provided by the Alexander S.
Onassis Public Benefit Foundation, Athens, Greece.
CR Coussement A, 2011, AM J MED GENET A, V155A, P2597, DOI 10.1002/ajmg.a.34210
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NR 10
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1090-3798
J9 EUR J PAEDIATR NEURO
JI Eur. J. Paediatr. Neurol.
PD MAY
PY 2013
VL 17
IS 3
BP 316
EP 320
DI 10.1016/j.ejpn.2012.12.004
PG 5
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 129UW
UT WOS:000317870500017
PM 23352671
ER
PT J
AU Daprati, E
Nico, D
Delorme, R
Leboyer, M
Zalla, T
AF Daprati, Elena
Nico, Daniele
Delorme, Richard
Leboyer, Marion
Zalla, Tiziana
TI Memory for past events: movement and action chains in high-functioning
autism spectrum disorders
SO EXPERIMENTAL BRAIN RESEARCH
LA English
DT Article
DE Autism; Obsessive-compulsive disorder; Enactment effect; Memory for
actions; Action chains; Checking behaviour
ID OBSESSIVE-COMPULSIVE DISORDER; SUBJECT-PERFORMED TASKS; DIAGNOSTIC
INTERVIEW; SOCIAL COGNITION; CHECKERS; DEFICITS; INFORMATION; SYMPTOMS;
CHILDREN; SCALE
AB In the present study, we assessed whether individuals with autism spectrum disorders (ASD) show memory impairments for previously performed actions, as previously suggested for people suffering from obsessive-compulsive disorder (OCD) (Ecker and Engelkamp in Behav Cogn Psychother 23:349-371, 1995; Merckelbach and Wessel in J Nerv Ment Dis 188(12):846-848, 2000). To test this possibility, we explored verbal memory for actions in individuals with a diagnosis of ASD, with and without co-morbidity for OCD, and in controls matched for age and gender. Participants observed or observed and enacted a number of actions while listening to the corresponding phrases being spoken. After a suitable delay, they were submitted to an old/new recognition task. Results showed that ASD individuals with OCD were less accurate and slower in responding compared to ASD individuals without OCD and controls, particularly when dealing with phrases describing simple movements. In contrast, ASD participants without OCD were more impaired when phrases described complex actions that involved pantomiming object use or coordinating movements of multiple body parts. These findings are discussed in terms of differential organization of the motor trace for simple versus complex actions in ASD individuals according to the concurrent presence of OCD.
C1 [Daprati, Elena] Univ Roma Tor Vergata, Dipartimento Med Sistemi, Rome, Italy.
[Daprati, Elena] Univ Roma Tor Vergata, CBMS, Rome, Italy.
[Daprati, Elena] IRCCS Fdn Santa Lucia, Dipartimento Fisiol Neuromotoria, Rome, Italy.
[Nico, Daniele] Univ Roma La Sapienza, Dipartimento Psicol, Rome, Italy.
[Delorme, Richard] Hop Robert Debre, AP HP, F-75019 Paris, France.
[Delorme, Richard; Leboyer, Marion] Univ Paris Est Creteil, IMRB, INSERM, U955, Creteil, France.
[Leboyer, Marion] Henri Mondor Albert Chenevier Hosp, AP HP, Dept Adult Psychiat, Creteil, France.
[Leboyer, Marion] French Natl Sci Fdn, Fdn FondaMental, Creteil, France.
[Zalla, Tiziana] Ecole Normale Super, CNRS, Inst Jean Nicod, Paris, France.
RP Daprati, E (reprint author), Univ Roma Tor Vergata, Dipartimento Med Sistemi, Rome, Italy.
EM elena.daprati@uniroma2.it; tiziana.zalla@ens.fr
FU Fondation FondaMental; Fondation Orange; Agence Nationale de la
Recherche (Grant Programme "Neurosciences, Neurologie et Psychiatrie")
FX We gratefully acknowledge the commitment of all participants and their
families to the pursuit of research in autism. This research was
supported by Fondation FondaMental and Fondation Orange to TZ and ML and
by Agence Nationale de la Recherche (Grant Programme "Neurosciences,
Neurologie et Psychiatrie") to TZ.
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NR 64
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0014-4819
J9 EXP BRAIN RES
JI Exp. Brain Res.
PD MAY
PY 2013
VL 226
IS 3
BP 325
EP 334
DI 10.1007/s00221-013-3436-1
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA 127HP
UT WOS:000317689300002
PM 23417648
ER
PT J
AU Takeuchi, H
Taki, Y
Sassa, Y
Hashizume, H
Sekiguchi, A
Nagase, T
Nouchi, R
Fukushima, A
Kawashima, R
AF Takeuchi, Hikaru
Taki, Yasuyuki
Sassa, Yuko
Hashizume, Hiroshi
Sekiguchi, Atsushi
Nagase, Tomomi
Nouchi, Rui
Fukushima, Ai
Kawashima, Ryuta
TI White matter structures associated with emotional intelligence: Evidence
from diffusion tensor imaging
SO HUMAN BRAIN MAPPING
LA English
DT Article
DE facial perception; emotional processing; gray matter; intrapersonal
factor; interpersonal factor; situation management factor; fractional
anisotropy
ID VOXEL-BASED MORPHOMETRY; NORMAL PEDIATRIC POPULATION; NERVE-FIBERS;
CONDUCTION-VELOCITY; COGNITIVE FUNCTIONS; HEALTHY-ADULTS; NEURAL
SYSTEMS; BRAIN; AUTISM; CREATIVITY
AB Previous studies of brain lesions, functional activity, and gray matter structures have suggested that emotional intelligence (EI) is associated with regions involved in the network of social cognition (SCN) and in somatic marker circuitry (SMC). Our new study is the first to investigate the association between white matter (WM) integrity and EI. We examined this relationship in the brain of healthy young adult men [n = 74, mean age = 21.5 years, standard deviation (SD) = 1.6] and women (n = 44, mean age = 21.9 years, SD = 1.4). We performed a voxel-based analysis of fractional anisotropy, which is an indicator of WM integrity, using diffusion tensor imaging and used a questionnaire (EI Scale) for measuring EI to identify the correlation of WM integrity with individual EI factor (intrapersonal, interpersonal, and situation management factors). Our results showed that (a) the intrapersonal factor of EI was positively correlated with WM integrity in the right anterior insula, and (b) the interpersonal factor of EI was associated with WM integrity in a part of the right inferior longitudinal fasciculus (ILF). The right anterior insula is one of the important nodes of the SMC, whereas the ILF connects the visual cortex and areas related to SCN, and thus, is a part of the SCN. Our findings further support the notion that the brain regions involved in the SCN and in the SMC are associated with EI. Hum Brain Mapp, 2013. (c) 2011 Wiley Periodicals, Inc.
C1 [Takeuchi, Hikaru; Nouchi, Rui; Kawashima, Ryuta] Tohoku Univ, Inst Dev Aging & Canc, Smart Ageing Int Res Ctr, Sendai, Miyagi 9808575, Japan.
[Taki, Yasuyuki; Sassa, Yuko; Hashizume, Hiroshi; Kawashima, Ryuta] Tohoku Univ, Inst Dev Aging & Canc, Div Dev Cognit Neurosci, Sendai, Miyagi 9808575, Japan.
[Sekiguchi, Atsushi; Fukushima, Ai; Kawashima, Ryuta] Tohoku Univ, Inst Dev Aging & Canc, Dept Funct Brain Imaging, Sendai, Miyagi 9808575, Japan.
[Nagase, Tomomi] Tohoku Univ, Fac Med, Sendai, Miyagi 9808575, Japan.
RP Takeuchi, H (reprint author), Tohoku Univ, IDAC, Smart Ageing Int Res Ctr, Aoba Ku, 4-1 Seiryo Cho, Sendai, Miyagi 9808575, Japan.
EM takehi@idac.tohoku.ac.jp
FU JST/RISTEX; JST/CREST
FX Contract grant sponsors: JST/RISTEX and JST/CREST.
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NR 73
TC 7
Z9 7
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1065-9471
J9 HUM BRAIN MAPP
JI Hum. Brain Mapp.
PD MAY
PY 2013
VL 34
IS 5
BP 1025
EP 1034
DI 10.1002/hbm.21492
PG 10
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA 122DT
UT WOS:000317297500003
PM 22139821
ER
PT J
AU Sahu, JK
Gulati, S
Sapra, S
Arya, R
Chauhan, S
Chowdhury, MR
Gupta, N
Kabra, M
Gupta, YK
Dwivedi, SN
Kalra, V
AF Sahu, Jitendra Kumar
Gulati, Sheffali
Sapra, Savita
Arya, Ravindra
Chauhan, Sandeepa
Chowdhury, Madhumita Roy
Gupta, Neerja
Kabra, Madhulika
Gupta, Y. K.
Dwivedi, S. N.
Kalra, Veena
TI Effectiveness and Safety of Donepezil in Boys With Fragile X Syndrome: A
Double-Blind, Randomized, Controlled Pilot Study
SO JOURNAL OF CHILD NEUROLOGY
LA English
DT Article
DE intellectual function; donepezil; fragile X syndrome; cholinergic
ID DOWN-SYNDROME
AB The present study was designed as a 12-week, randomized, double-blind, placebo-controlled pilot study to evaluate the effectiveness and safety of donepezil in boys with fragile X syndrome. Twenty boys with fragile X syndrome were randomized to receive 12 weeks of treatment with either placebo or donepezil (2.5 mg daily for initial 4 weeks followed by 5 mg daily for next 8 weeks). The outcome measures included change in intelligence quotient scores on Stanford-Binet Intelligence Scale (Hindi adaptation by Kulshrestha), change in behavioral scores by Conners 3 Parent Rating Scale (Short) and Childhood Autism Rating Scale, safety, and tolerability of donepezil. The study failed to show significant difference in intelligence quotient and behavioral scales with donepezil therapy over 12 weeks. However, donepezil appeared to be safe and well tolerated.
C1 [Sahu, Jitendra Kumar] Postgrad Inst Med Educ & Res, Dept Pediat, Chandigarh 160012, India.
[Sahu, Jitendra Kumar; Gulati, Sheffali; Sapra, Savita; Arya, Ravindra; Chauhan, Sandeepa; Chowdhury, Madhumita Roy; Gupta, Neerja; Kabra, Madhulika; Kalra, Veena] All India Inst Med Sci, Dept Pediat, New Delhi, India.
[Arya, Ravindra] Cincinnati Childrens Hosp Med Ctr, Div Neurol, Comprehens Epilepsy Ctr, Cincinnati, OH USA.
[Gupta, Y. K.] All India Inst Med Sci, Dept Pharmacol, New Delhi, India.
[Dwivedi, S. N.] All India Inst Med Sci, Dept Biostat, New Delhi, India.
RP Gulati, S (reprint author), All India Inst Med Sci, Dept Pediat, Child Neurol Div, New Delhi, India.
EM sheffaligulati@gmail.com
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TC 3
Z9 3
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0883-0738
J9 J CHILD NEUROL
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PD MAY
PY 2013
VL 28
IS 5
BP 570
EP 575
DI 10.1177/0883073812449381
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UT WOS:000317683900002
PM 22752489
ER
PT J
AU Dawson, G
AF Dawson, Geraldine
TI Early intensive behavioral intervention appears beneficial for young
children with autism spectrum disorders
SO JOURNAL OF PEDIATRICS
LA English
DT Editorial Material
C1 Univ N Carolina, Carrboro, NC 27510 USA.
RP Dawson, G (reprint author), Univ N Carolina, Carrboro, NC 27510 USA.
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NR 3
TC 1
Z9 1
PU MOSBY-ELSEVIER
PI NEW YORK
PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0022-3476
J9 J PEDIATR-US
JI J. Pediatr.
PD MAY
PY 2013
VL 162
IS 5
BP 1080
EP 1081
PG 3
WC Pediatrics
SC Pediatrics
GA 129JW
UT WOS:000317836300050
PM 23617979
ER
PT J
AU Essa, MM
Braidy, N
Waly, MI
Al-Farsi, YM
Al-Sharbati, M
Subash, S
Amanat, A
Al-Shaffaee, MA
Guillemin, GJ
AF Essa, M. M.
Braidy, N.
Waly, M. I.
Al-Farsi, Y. M.
Al-Sharbati, M.
Subash, S.
Amanat, A.
Al-Shaffaee, M. A.
Guillemin, G. J.
TI Impaired antioxidant status and reduced energy metabolism in autistic
children
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; ATP; Oxidative stress; NAD(+); Antioxidants
ID OXIDATIVE STRESS; NEURODEGENERATIVE DISEASES; NITRIC-OXIDE; CELL-DEATH;
MITOCHONDRIAL DYSFUNCTION; NEUROLOGICAL DISEASE; SPECTRUM DISORDERS;
PARKINSONS-DISEASE; ALZHEIMERS-DISEASE; SCHIZOPHRENIA
AB Accumulating evidence suggests that oxidative stress induced mechanisms are believed to be associated with the pathophysiology of autisin. In this study, we recruited 19 Omani autistic children with age-matched controls to analyze their plasma and serum redox status and the levels of ATP, NAD(+) and NADH using well established spectrophotometric assays. A significant decrease was observed in the levels of plasma total antioxidants (TA), reduced glutathione (GSH), superoxide and catalase activity in Omani autistic children as compared to their age-matched controls. In contrary, the level of plasma glutathione peroxidase (GSH-Px) was significantly increased in autistic children. Reduced serum NAD(+) and ATP levels and lower NAnNADH ratio were observedin patients with autism compared to controls. Finally, a significant inverse correlation was observed between plasma GSH, SOD, catalase activity, and serum NAD(+) and ATP levels, and autism severity using Childhood Autism Rating Scale (CARS) scores. The levels of plasma GSH-Px and serum NADH correlated strongly with autism severity whilst no significant correlation was observed for plasma TA. Our data suggests that increased vulnerability to oxidative stress in autism may occur as a consequence of alterations in antioxidant enzymes leading to mitochondrial dysfunction. Crown Copyright (C) 2013 Published by Elsevier Ltd. All rights reserved.
C1 [Essa, M. M.; Waly, M. I.; Subash, S.; Amanat, A.] Sultan Qaboos Univ, Coll Agr & Marine Sci, Dept Food Sci & Nutr, Muscat, Oman.
[Essa, M. M.] Univ New S Wales, Sch Med Sci, Dept Pharmacol, Sydney, NSW, Australia.
[Braidy, N.] Univ New S Wales, Fac Med, Ctr Hlth Brain Ageing, Sch Psychiat, Sydney, NSW, Australia.
[Al-Farsi, Y. M.; Al-Sharbati, M.; Al-Shaffaee, M. A.] Sultan Qaboos Univ, Coll Med & Hlth Sci, Muscat, Oman.
[Guillemin, G. J.] Macquarie Univ, MND & Neurodegenerat Dis Res Ctr, Neuropharmacol Grp, N Ryde, NSW 2109, Australia.
RP Guillemin, GJ (reprint author), Macquarie Univ, Australian Sch Adv Med, Neuroinflammat Grp, MND & Neurodegenerat Dis Res Grp, N Ryde, NSW 2109, Australia.
EM gilles.guillemin@mq.edu.au
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NR 63
TC 2
Z9 2
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAY
PY 2013
VL 7
IS 5
BP 557
EP 565
DI 10.1016/j.rasd.2012.12.006
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 125NE
UT WOS:000317545700001
ER
PT J
AU Manouilenko, I
Pagani, M
Stone-Elander, S
Odh, R
Brolin, F
Hatherly, R
Jacobsson, H
Larsson, SA
Bejerot, S
AF Manouilenko, Irina
Pagani, Marco
Stone-Elander, Sharon
Odh, Richard
Brolin, Fredrik
Hatherly, Robert
Jacobsson, Hans
Larsson, Stig A.
Bejerot, Susanne
TI Autistic traits, ADHD symptoms, neurological soft signs and regional
cerebral blood flow in adults with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; ADHD; Neurological soft signs;
Temporo-parietal junction; Thalamus; Caudate
ID DEFICIT HYPERACTIVITY DISORDER; ATTENTION-DEFICIT/HYPERACTIVITY
DISORDER; OBSESSIVE-COMPULSIVE DISORDER; POSITRON-EMISSION-TOMOGRAPHY;
PERVASIVE DEVELOPMENTAL DISORDERS; ASPERGER-SYNDROME; CHILDHOOD AUTISM;
HEALTHY-INDIVIDUALS; GLUCOSE-METABOLISM; FUNCTIONAL-ANATOMY
AB The resting regional cerebral blood flow (rCBF) patterns related to co-occurring symptoms such as inattention, hyperactivity, neurological soft signs and motor problems have not yet been disclosed in autism spectrum disorders (ASD).
In this study thirteen adults with ASD and ten matched neurotypical controls underwent PET. The scores of rating scales for autistic traits, attention deficit hyperactivity disorder (ADHD) and neurological soft signs were included in a factorial analysis and correlated with rCBF. Factors corresponding to "autistic/ADHD traits", "sensory-motor integration" and "Intelligence/Motor sequencing" were identified. In the ASD group, positive correlations with CBF were found for "autistic/ADHD traits" in caudate bilaterally and the inferior parietal lobule, for "sensory-motor integration" in parieto-occipital cortex and for "Intelligence/Motor sequencing" in the right temporal cortex. Notably, CBF in the left thalamus correlated negatively with all three factors. Autistic traits and ADHD symptoms were associated with shared neural substrates. The correlation between "autistic/ADHD traits" and rCBF in the caudate is possibly associated with the executive impairments and ritualistic/stereotyped behaviors apparent in ASD. Furthermore, sensory-motor deficits were correlated with rCBF in the occipital visual cortex, involved in atypical visual perception in ASD. Various behavioral and neurological symptoms are suggested to converge into the ASD phenotype. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Manouilenko, Irina; Stone-Elander, Sharon; Bejerot, Susanne] Karolinska Inst, Dept Clin Neurosci, Stockholm, Sweden.
[Manouilenko, Irina] Jarva Psychiat Out Patient Clin, Praktikertjanst AB, S-16374 Stockholm, Sweden.
[Pagani, Marco; Brolin, Fredrik; Hatherly, Robert; Jacobsson, Hans] Karolinska Univ Hosp, Dept Nucl Med, Stockholm, Sweden.
[Pagani, Marco] CNR, Inst Cognit Sci & Technol, Rome, Italy.
[Stone-Elander, Sharon] Karolinska Univ Hosp, Dept Neuroradiol, Stockholm, Sweden.
[Odh, Richard] Swedish Radiat Safety Author, Dept Radiat Protect, Stockholm, Sweden.
[Larsson, Stig A.] Karolinska Univ Hosp, Dept Diagnost Phys, Stockholm, Sweden.
RP Manouilenko, I (reprint author), Jarva Psychiat Out Patient Clin, Rinkebysvangen 70A,4Tr, S-16374 Stockholm, Sweden.
EM irina.manouilenko@ki.se
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NR 114
TC 3
Z9 3
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAY
PY 2013
VL 7
IS 5
BP 566
EP 578
DI 10.1016/j.rasd.2012.12.008
PG 13
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 125NE
UT WOS:000317545700002
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 What is available for case identification in autism research in mainland
China?
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Screening instrument; Diagnostic instrument; Mainland China
ID DIAGNOSTIC OBSERVATION SCHEDULE; PERVASIVE DEVELOPMENTAL DISORDERS;
SPECTRUM SCREENING QUESTIONNAIRE; CHILDHOOD AUTISM; RATING-SCALE;
BEHAVIOR CHECKLIST; YOUNG-CHILDREN; ASPERGER-SYNDROME; INSTRUMENTS;
INTERVIEW
AB Little is known about research on Autism Spectrum Conditions (ASC) in mainland China. The few available studies in mainland China have shown the screening and diagnostic instruments for ASC used in mainland China were different from the West. Literature on screening and diagnostic instruments and criteria were reviewed and current available instruments were identified and evaluated. Eight screening instruments and two diagnostic instruments were identified. The Clancy Autism Behaviour Scale (CABS), the Autism Behaviour Checklist (ABC) and the Childhood Autism Rating Scale (CARS) were the most frequently used instruments in mainland China. They were adopted from the West more than two decades ago for detecting individuals with Childhood Autism but not the whole autism spectrum. Standardised instruments need to be validated and adopted into autism research in mainland China. (C) 2012 Elsevier Ltd. All rights reserved.
C1 [Sun, Xiang; Brayne, Carol] Univ Cambridge, Cambridge Inst Publ Hlth, Dept Publ Hlth & Primary Care, Cambridge CB2 0SR, England.
[Sun, Xiang; Allison, Carrie; Auyeung, Bonnie; Baron-Cohen, Simon] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge CB2 2AH, England.
[Matthews, Fiona E.] Cambridge Inst Publ Hlth, MRC, Biostat Unit, Cambridge CB2 0SR, England.
RP Sun, X (reprint author), Univ Cambridge, Cambridge Inst Publ Hlth, Dept Publ Hlth & Primary Care, Forvie Site,Robinson Way, Cambridge CB2 0SR, England.
EM xs227@medschl.cam.ac.uk
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NR 82
TC 2
Z9 2
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAY
PY 2013
VL 7
IS 5
BP 579
EP 590
DI 10.1016/j.rasd.2012.11.003
PG 12
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 125NE
UT WOS:000317545700003
ER
PT J
AU Gardner, LM
Murphy, L
Campbell, JM
Tylavsky, F
Palmer, FB
Graff, JC
AF Gardner, Lauren M.
Murphy, Laura
Campbell, Jonathan M.
Tylavsky, Frances
Palmer, Frederick B.
Graff, J. Carolyn
TI Screening accuracy for risk of autism spectrum disorder using the Brief
Infant-Toddler Social and Emotional Assessment (BITSEA)
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Developmental screening; BITSEA; M-CHAT
ID PERVASIVE DEVELOPMENTAL DISORDERS; MODIFIED-CHECKLIST; YOUNG-CHILDREN;
EARLY IDENTIFICATION; FOLLOW-UP; INTERVENTION; DIAGNOSIS; QUESTIONNAIRE;
PRESCHOOLERS; VALIDITY
AB Early identification of autism spectrum disorders (ASDs) is facilitated by the use of standardized screening scales that assess the social emotional behaviors associated with ASD. Authors examined accuracy of Brief Infant-Toddler Social and Emotional Assessment (BITSEA) subscales in detecting Modified Checklist for Autism in Toddlers (M-CHAT) risk for 456 toddlers. An ASD-specific screener, Total ASD, was developed from BITSEA subscales incorporating both behavioral and social communicative features of ASD. Results indicated that Total ASD is more accurate in detecting autism risk than scales measuring general behavior problems or social competence. Results provide support for the BITSEA as a Level I screener for social emotional problems and a Level II screener for ASD symptoms at community sites such as well child clinics. (C) 2013 Published by Elsevier Ltd.
C1 [Gardner, Lauren M.; Murphy, Laura; Palmer, Frederick B.] Univ Tennessee, Ctr Hlth Sci, Boling Ctr Dev Disabil, Memphis, TN 38163 USA.
[Campbell, Jonathan M.] Univ Kentucky, Dept Educ Sch & Counseling Psychol, Lexington, KY USA.
[Tylavsky, Frances] Univ Tennessee, Ctr Hlth Sci, Memphis, TN 38163 USA.
[Graff, J. Carolyn] Univ Tennessee, Ctr Hlth Sci, Coll Nursing, Memphis, TN 38163 USA.
[Graff, J. Carolyn] Univ Tennessee, Ctr Hlth Sci, Boling Ctr Dev Disabil, Memphis, TN 38163 USA.
RP Murphy, L (reprint author), Univ Tennessee, Ctr Hlth Sci, Boling Ctr Dev Disabil, 711 Jefferson Ave, Memphis, TN 38163 USA.
EM lmurphy@uthsc.edu
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NR 34
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAY
PY 2013
VL 7
IS 5
BP 591
EP 600
DI 10.1016/j.rasd.2013.01.004
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 125NE
UT WOS:000317545700004
ER
PT J
AU Lemonnier, E
Grandgeorge, M
Jacobzone-Leveque, C
Bessaguet, C
Peudenier, S
Misery, L
AF Lemonnier, E.
Grandgeorge, M.
Jacobzone-Leveque, C.
Bessaguet, C.
Peudenier, S.
Misery, L.
TI Red dermographism in autism spectrum disorders: A clinical sign of
cholinergic dysfunction?
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; ASD; Dermatology; Red dermographism;
Acetylcholine
ID BRAIN-DEVELOPMENT; CHILDREN; ABNORMALITIES; URTICARIA; RISK;
DISTURBANCES; BIOMARKERS; DIAGNOSIS; CORTEX
AB The authors hypothesised that red dermographism - a skin reaction involving the cholinergic system - is more frequent in children with autism spectrum disorders (ASDs) than in children exhibiting typical development. We used a dermatological examination to study red dermographism in this transverse study, which compared forty six children with ASDs with seventy one children exhibiting typical development. Both univariate and stratified statistical analyses were performed. In comparison with the control group, children with ASDs had a greater prevalence of red dermographism, especially the subgroup of children with autism and Asperger syndrome. Our results reflect a probable difference in the functionality of the cholinergic system. Indeed, ASDs are usually considered neurodevelopmental disorders caused by several factors. Cholinergic system abnormalities may be involved in the pathophysiology of ASDs, at least for a subgroup of individuals. The implications for a possible treatment strategy and a potential biomarker for ASDs are discussed. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Lemonnier, E.; Grandgeorge, M.; Misery, L.] Univ Bretagne Occidentale, Lab Neurosci Brest, EA 4685, Brest, France.
[Lemonnier, E.; Grandgeorge, M.] CHRU Brest, Ctr Ressources Autisme, Child Psychiat Serv, Brest, France.
[Jacobzone-Leveque, C.; Misery, L.] CHRU Brest, Dept Dermatol, Brest, France.
[Bessaguet, C.] CHRU Brest, Dept Biostat, Brest, France.
[Peudenier, S.] CHRU Brest, Dept Paediat, Brest, France.
RP Grandgeorge, M (reprint author), Hop Bohars, Ctr Ressources Autisme Bretagne, F-29820 Bohars, France.
EM marine.grandgeorge@chu-brest.fr
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NR 49
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAY
PY 2013
VL 7
IS 5
BP 601
EP 605
DI 10.1016/j.rasd.2013.01.005
PG 5
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 125NE
UT WOS:000317545700005
ER
PT J
AU Spek, AA
Velderman, E
AF Spek, Annelies A.
Velderman, E.
TI Examining the relationship between Autism spectrum disorders and
technical professions in high functioning adults
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Technical skills; Attention to detail; Attention switching;
Social skill
ID COGNITIVE-STYLE; QUOTIENT AQ; RELIABILITY; INTERVIEW
AB A relationship has been hypothesized between Autism and technical professions. This has been attributed to superior folk physics in individuals with Autism. Folk physics can be described as the capability to understand physical causality. Since all the previous studies in this area were focused on family members of individuals with Autism, it was unclear if there is a direct relationship between Autism and technical professions. Therefore, we examined the degree to which the professions of high functioning adults with Autism (N = 29) encompass technical skills and compared the results to adults with Schizophrenia (N = 17) and a neurotypical control group (N = 30). Furthermore, we examined whether the degree of technical skills in the professions of the Autism group was related to their autistic traits. The results showed that the last and longest attained professions of the adults with Autism require more technical skills than those of the Schizophrenia and neurotypical group. Furthermore, the degree of technical skills in the professions of the adults with Autism is related to impairments in social skills, but not to strengths in detailed information processing. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Spek, Annelies A.; Velderman, E.] Mental Hlth Inst GGZ Eindhoven, Adult Autism Ctr, NL-5626 AB Eindhoven, Netherlands.
RP Spek, AA (reprint author), Mental Hlth Inst GGZ Eindhoven, Adult Autism Ctr, Boschdijk 771,Postvak 1418, NL-5626 AB Eindhoven, Netherlands.
EM aa.spek@ggze.nl
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NR 30
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAY
PY 2013
VL 7
IS 5
BP 606
EP 612
DI 10.1016/j.rasd.2013.02.002
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 125NE
UT WOS:000317545700006
ER
PT J
AU Whyatt, C
Craig, CM
AF Whyatt, Caroline
Craig, Cathy M.
TI Interceptive skills in children aged 9-11 years, diagnosed with Autism
Spectrum Disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Catching; Tau-coupling; Motor Control; Timing; ASD
ID HIGH-FUNCTIONING AUTISM; TO-GRASP MOVEMENT; ASPERGERS-DISORDER; MOTOR
IMPAIRMENT; PARKINSONS-DISEASE; REACHING MOVEMENTS; KINEMATIC ANALYSIS;
PRETERM INFANTS; SENSORY-MOTOR; DEFICIT
AB Growing evidence suggests that significant motor problems are associated with a diagnosis of Autism Spectrum Disorders (ASD), particularly in catching tasks. Catching is a complex, dynamic skill that involves the ability to synchronise one's own movement to that of a moving target. To successfully complete the task, the participant must pick up and use perceptual information about the moving target to arrive at the catching place at the right time. This study looks at catching ability in children diagnosed with ASD (mean age 10.16 +/- 0.9 years) and age-matched non-verbal (9.72 +/- 0.79 years) and receptive language (9.51 +/- 0.46) control groups. Participants were asked to "catch" a ball as it rolled down a fixed ramp. Two ramp heights provided two levels of task difficulty, whilst the sensory information (audio and visual) specifying ball arrival time was varied. Results showed children with ASD performed significantly worse than both the receptive language (p =.02) and non-verbal (p =.02) control groups in terms of total number of balls caught. A detailed analysis of the movement kinematics showed that difficulties with picking up and using the sensory information to guide the action may be the source of the problem. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Whyatt, Caroline; Craig, Cathy M.] Queens Univ Belfast, Sch Psychol, Belfast BT9 5BN, Antrim, North Ireland.
RP Whyatt, C (reprint author), Queens Univ Belfast, Sch Psychol, 18-30 Malone Rd, Belfast BT9 5BN, Antrim, North Ireland.
EM c.whyatt@qub.ac.uk; cathy.craig@qub.ac.uk
RI Craig, Cathy/D-9833-2014
OI Craig, Cathy/0000-0001-5509-1120
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NR 79
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAY
PY 2013
VL 7
IS 5
BP 613
EP 623
DI 10.1016/j.rasd.2013.01.003
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 125NE
UT WOS:000317545700007
ER
PT J
AU Garcia-Villamisar, D
Dattilo, J
Matson, JL
AF Garcia-Villamisar, Domingo
Dattilo, John
Matson, Johnny L.
TI Quality of life as a mediator between behavioral challenges and autistic
traits for adults with intellectual disabilities
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Intellectual disabilities; Behavioral
challenges; Quality of life
ID PROFOUND MENTAL-RETARDATION; SELF-INJURIOUS-BEHAVIOR; QUESTIONNAIRE
QOL-Q; SPECTRUM DISORDERS; DIAGNOSTIC-ASSESSMENT; DISABLED ADULTS;
SOCIAL-SKILLS; DASH-II; ASD-DA; PSYCHOPATHOLOGY
AB A multiple mediation model was proposed to integrate core concepts of challenging behaviors with autistic traits to increase understanding of their relationship to quality of life (QoL). It was hypothesized that QoL is a possible mediator between the severity of challenging behaviors and autistic traits in adults with intellectual disability. These constructs are of vital importance because they are essential variables for people with autism, and obviously they influence their psychosocial development. Participants were 70 adults with autism spectrum disorders (ASD) and moderate intellectual disabilities (ID). Results indicated that several dimensions of QoL mediated the relationships between autistic traits and challenging behaviors. The dimensions of QoL, Satisfaction, Competence/Productivity, and Autonomy/Independence are mediators between autistic traits and challenging behaviors. Implications of these data are discussed. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Garcia-Villamisar, Domingo] Univ Complutense Madrid, E-28040 Madrid, Spain.
[Dattilo, John] Penn State Univ, University Pk, PA 16802 USA.
[Matson, Johnny L.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Garcia-Villamisar, D (reprint author), Dept Personal & Clin Psychol, Avda Juan 23 Sn, Madrid 28040, Spain.
EM villamis@edu.ucm.es; jxd8@psu.edu; johnmatson@aol.com
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NR 50
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 MAY
PY 2013
VL 7
IS 5
BP 624
EP 629
DI 10.1016/j.rasd.2012.12.009
PG 6
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 125NE
UT WOS:000317545700008
ER
PT J
AU Wijburg, FA
Wegrzyn, G
Burton, BK
Tylki-Szymanska, A
AF Wijburg, Frits A.
Wegrzyn, Grzegorz
Burton, Barbara K.
Tylki-Szymanska, Anna
TI Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of
idiopathic developmental delay, attention deficit/hyperactivity disorder
or autism spectrum disorder
SO ACTA PAEDIATRICA
LA English
DT Review
DE Attention deficit/hyperactivity disorder; Autism spectrum disorder;
Developmental disabilities; Mucopolysaccharidosis type III;
Speech/language disorders
ID BONE-MARROW-TRANSPLANTATION; LYSOSOMAL STORAGE DISORDERS; FLUOROMETRIC
ENZYME ASSAY; PREIMPLANTATION GENETIC DIAGNOSIS; SYNDROME TYPE-A;
URINARY GLYCOSAMINOGLYCANS; PRENATAL-DIAGNOSIS; FOLLOW-UP; LC-MS/MS;
DISEASE
AB Mucopolysaccharidosis III is a rare genetic disease characterized by progressive cognitive decline and severe hyperactivity that does not respond to stimulants. Somatic features are relatively mild. Patients are often initially misdiagnosed as having idiopathic developmental delay, attention deficit/hyperactivity disorder and/or autism spectrum disorders, putting them at risk for unnecessary testing and treatments. Conclusion Children with developmental or speech delay, especially those with a characteristic somatic feature or behavioural abnormalities, should be screened for MPS III.
C1 [Wijburg, Frits A.] Univ Amsterdam, Acad Med Ctr, Dept Paediat, NL-1105 AZ Amsterdam, Netherlands.
[Wegrzyn, Grzegorz] Univ Gdansk, Dept Mol Biol, PL-80952 Gdansk, Poland.
[Burton, Barbara K.] Ann & Robert H Lurie Childrens Hosp Chicago, Div Genet Birth Defects & Metab, Chicago, IL USA.
[Tylki-Szymanska, Anna] Childrens Mem Hlth Inst, Dept Metab Dis, Warsaw, Poland.
RP Wijburg, FA (reprint author), Univ Amsterdam, Acad Med Ctr, Dept Paediat H7 270, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands.
EM f.a.wijburg@amc.uva.nl
FU Shire Human Genetic Therapies, Inc.; Shire Human Genetic Therapies;
Genzyme; BioMarin Pharmaceutical Inc.; Actelion Pharmaceuticals
FX Dr. Burton has received honoraria, travel grants or research grants from
Shire Human Genetic Therapies. Drs. Tylki-Szymanska and Wczgrzyn have
received honoraria and travel grants from Shire Human Genetic Therapies,
Inc., Genzyme and BioMarin Pharmaceutical Inc. Dr. Wijburg has received
honoraria, travel grants or research grants from Shire Human Genetic
Therapies, Inc., Genzyme and Actelion Pharmaceuticals.
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NR 60
TC 8
Z9 8
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0803-5253
J9 ACTA PAEDIATR
JI Acta Paediatr.
PD MAY
PY 2013
VL 102
IS 5
BP 462
EP 470
DI 10.1111/apa.12169
PG 9
WC Pediatrics
SC Pediatrics
GA 123AW
UT WOS:000317361400019
PM 23336697
ER
PT J
AU Liu, JY
Calhoun, VD
Chen, JY
Claus, ED
Hutchison, KE
AF Liu, Jingyu
Calhoun, Vince D.
Chen, Jiayu
Claus, Eric D.
Hutchison, Kent E.
TI Effect of homozygous deletions at 22q13.1 on alcohol dependence severity
and cue-elicited BOLD response in the precuneus
SO ADDICTION BIOLOGY
LA English
DT Article
DE 22q13.1; alcohol dependence; homozygous deletion; neurobiological
phenotype; precuneus
ID COPY-NUMBER VARIATION; AUTISM SPECTRUM DISORDERS; HUMAN GENOME;
STRUCTURAL VARIATION; DRINKING BEHAVIORS; NEURAL RESPONSE; GENE;
SCHIZOPHRENIA; VARIANTS; ASSOCIATION
AB Copy number variations (CNVs) can alter the DNA sequence in blocks ranging from kilobases to megabases, involving more total nucleotides than single nucleotide polymorphisms. Yet, its impact in humans is far from fully understood. In this study, we investigate the relationship of genome-wide CNVs with brain function elicited by an alcohol cue in 300 participants with alcohol use disorders. First, we extracted refined neurobiological phenotypes, the brain responses to an alcohol cue versus a juice cue in the precuneus, thalamus and anterior cingulate cortex (ACC). Then, we correlated the CNVs with incidence frequency >1% to the neurobiological phenotypes. One CNV region at 22q13.1 was identified to be associated with alcohol dependence severity and the brain response to alcohol cues. Specifically, the 22k base-pair homozygous deletion at 22q13.1 affects genes APOBEC3a and APOBEC3b. Carriers of this homozygous deletion show a significantly higher score in the alcohol dependence severity (P<0.05) and increased response to alcohol cues in the precuneus (P<1012) than other participants. Tests of a mediation model indicate that the precuneus mediates the association between the homozygous deletions and alcohol dependence severity. Interestingly, the precuneus is not only anatomically and functionally connected to the ACC and thalamus (the main active regions to the alcohol cue), but also has the most predictive power to the alcohol dependence severity. These findings suggest that the homozygous deletion at 22q13.1 may have an important impact on the function of the precuneus with downstream implications for alcohol dependence.
C1 [Liu, Jingyu; Calhoun, Vince D.; Chen, Jiayu; Claus, Eric D.; Hutchison, Kent E.] Mind Res Network, Albuquerque, NM 87106 USA.
[Liu, Jingyu; Calhoun, Vince D.; Chen, Jiayu] Univ New Mexico, Dept Elect & Comp Engn, Albuquerque, NM 87131 USA.
[Hutchison, Kent E.] Univ Colorado, Dept Psychol & Neurosci, Boulder, CO 80309 USA.
RP Liu, JY (reprint author), Mind Res Network, 1101 Yale Blvd NE, Albuquerque, NM 87106 USA.
EM jliu@mrn.org
RI Calhoun, Vince/H-7146-2013
OI Calhoun, Vince/0000-0001-9058-0747
FU National Institute on Alcoholism and Alcohol Abuse [AA012238, AA014886];
National Institute Drug Abuse [1R21DA027626]; National Institutes of
Health [R01EB005846]
FX We are grateful for the help that the MRN Genetics Core Lab provided in
collecting the genetic data. This work was supported by grants from the
National Institute on Alcoholism and Alcohol Abuse (AA012238 and
AA014886) to K. H. and by a grant from National Institute Drug Abuse
(1R21DA027626) to J.L. and grant R01EB005846 from the National
Institutes of Health.
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NR 49
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1355-6215
J9 ADDICT BIOL
JI Addict. Biol.
PD MAY
PY 2013
VL 18
IS 3
BP 548
EP 558
DI 10.1111/j.1369-1600.2011.00393.x
PG 11
WC Biochemistry & Molecular Biology; Substance Abuse
SC Biochemistry & Molecular Biology; Substance Abuse
GA 123ZG
UT WOS:000317431500016
PM 21995620
ER
PT J
AU Whittingham, K
Wee, D
Sanders, MR
Boyd, R
AF Whittingham, K.
Wee, D.
Sanders, M. R.
Boyd, R.
TI Predictors of psychological adjustment, experienced parenting burden and
chronic sorrow symptoms in parents of children with cerebral palsy
SO CHILD CARE HEALTH AND DEVELOPMENT
LA English
DT Article
DE cerebral palsy; chronic sorrow; coping; experiential avoidance; parent
ID DEVELOPMENTAL-DISABILITIES; DECREASES AGGRESSION; COMMITMENT THERAPY;
ACCEPTANCE; STRESS; HEALTH; AUTISM; CAREGIVERS; FAMILIES; BEHAVIOR
AB Aim To investigate the role of child behaviour, parental coping and experiential avoidance in predicting the psychological outcomes of: (i) psychological symptoms; (ii) chronic sorrow symptoms; and (iii) experienced parenting burden in parents of children with cerebral palsy (CP). Method This study is a cross-sectional, correlational study. Ninety-four parents of children (aged 212 years) with CP (various levels of motor functioning GMFCS IV) participated. Results Together, the three predictors of child behaviour, parental coping and experiential avoidance explained 36.8% of the variance in psychological symptoms with child behavioural problems and experiential avoidance as significant unique predictors. In addition, 15.8% of the variance in chronic sorrow symptoms was explained by the three predictors with experiential avoidance alone as a significant unique predictor. Lastly, the predictors together explained 24.3% of the variance in experienced parenting burden with child behavioural problems and experiential avoidance as significant unique predictors. Conclusions This study demonstrates a relationship between child behavioural problems and parental psychological symptoms and experienced parenting burden as well as a relationship between experiential avoidance and parental psychological symptoms, experienced parenting burden and chronic sorrow symptoms.
C1 [Whittingham, K.; Boyd, R.] Univ Queensland, Fac Hlth Sci, Queensland Cerebral Palsy & Rehabil Res Ctr, Sch Med, Brisbane, Qld 4029, Australia.
[Whittingham, K.; Wee, D.] Univ Queensland, Sch Psychol, Fac Social & Behav Sci, Brisbane, Qld 4029, Australia.
[Whittingham, K.; Boyd, R.] Univ Queensland, Fac Hlth Sci, Queensland Childrens Med Res Inst, Brisbane, Qld 4029, Australia.
[Sanders, M. R.] Univ Queensland, Fac Social & Behav Sci, Sch Psychol, Parenting & Family Support Ctr, Brisbane, Qld 4029, Australia.
RP Whittingham, K (reprint author), Univ Queensland, Royal Childrens Hosp, Queensland Cerebral Palsy & Rehabil Res Ctr, Dept Paediat & Child Hlth,Sch Med, Level 3,Fdn Bldg, Brisbane, Qld 4029, Australia.
EM koawhittingham@uq.edu.au
RI Sanders, Matthew/C-1941-2013; Whittingham, Koa/C-6766-2009; Boyd,
Roslyn/A-4498-2011
OI Sanders, Matthew/0000-0003-3479-6337; Whittingham,
Koa/0000-0002-5344-9907; Boyd, Roslyn/0000-0002-4919-5975
FU NHMRC [473840, 631712]
FX We acknowledge an NHMRC Career Development Award (473840) and a Smart
State Fellowship (RB) as well as an NHMRC postdoctoral fellowship
(631712) (KW). In addition, we acknowledge the support of the NSW
Cerebral Palsy Alliance and the Queensland Cerebral Palsy League who
assisted in recruitment.
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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 0305-1862
J9 CHILD CARE HLTH DEV
JI Child Care Health Dev.
PD MAY
PY 2013
VL 39
IS 3
BP 366
EP 373
DI 10.1111/j.1365-2214.2012.01396.x
PG 8
WC Psychology, Developmental; Pediatrics
SC Psychology; Pediatrics
GA 123WU
UT WOS:000317423200006
PM 22676468
ER
PT J
AU Clarke, JN
AF Clarke, Juanne N.
TI Surplus suffering: the search for help when a child has mental-health
issues
SO CHILD & FAMILY SOCIAL WORK
LA English
DT Article
DE children's mental health; intensive mothering; medicalization
ID DEPRESSION; PARENTS; ADOLESCENTS; DISORDERS; RITALIN; STIGMA; AUTISM
AB Social theorists have demonstrated the growth in dominance of two central discourses for understanding the ways that children's mental-health issues are understood today medicalization and intensive mothering. In this context, this paper reports on a qualitative interview-based study of 16 mothers whose children had received a diagnosis with one or more mental-health or developmental issues such as Tourette's, bipolar, anxiety, depression, autism or attention deficit hyperactivity disorder. It is based on the retrospective accounts of mothers given during interviews, from the time when they noticed what they thought to be unusual behaviours and decided to try to normalize and accommodate to their children's behaviours and then to the various steps they took to seek help. The paper begins with a description of the sorts of problems that mothers noticed. It then moves to the strategies mothers then took to cope, manage and socialize their children. When these failed, mothers sought professional assistance with understanding, remediation and/or a diagnosis for the child(ren). Mothers described uncertainty, confusion and contradictions as they unremittingly sought help. This process may be called surplus suffering. The relevance of the theoretical issues is then reconsidered along with the substantive and practical consequences of the findings.
C1 Wilfrid Laurier Univ, Dept Sociol, Waterloo, ON N2L 3C5, Canada.
RP Clarke, JN (reprint author), Wilfrid Laurier Univ, Dept Sociol, 75 Univ Ave West, Waterloo, ON N2L 3C5, Canada.
EM jclarke@wlu.ca
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NR 37
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1356-7500
J9 CHILD FAM SOC WORK
JI Child Fam. Soc. Work
PD MAY
PY 2013
VL 18
IS 2
BP 217
EP 225
DI 10.1111/j.1365-2206.2011.00824.x
PG 9
WC Family Studies; Social Work
SC Family Studies; Social Work
GA 119AL
UT WOS:000317068800012
ER
PT J
AU Jordan, R
AF Jordan, Rita
TI Autism All-Stars: How We Use Our Autism and Asperger Traits to Shine in
Life
SO CHILD & FAMILY SOCIAL WORK
LA English
DT Book Review
C1 [Jordan, Rita] Univ Birmingham, Birmingham B15 2TT, W Midlands, England.
RP Jordan, R (reprint author), Univ Birmingham, Birmingham B15 2TT, W Midlands, England.
CR SANTOMAURO J, 2012, AUTISM ALL STARTS US
NR 1
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1356-7500
J9 CHILD FAM SOC WORK
JI Child Fam. Soc. Work
PD MAY
PY 2013
VL 18
IS 2
BP 239
EP 240
DI 10.1111/cfs.12007
PG 2
WC Family Studies; Social Work
SC Family Studies; Social Work
GA 119AL
UT WOS:000317068800016
ER
PT J
AU Peterson, CC
Slaughter, V
Peterson, J
Premack, D
AF Peterson, Candida C.
Slaughter, Virginia
Peterson, James
Premack, David
TI Children with autism can track others' beliefs in a competitive game
SO DEVELOPMENTAL SCIENCE
LA English
DT Article
ID MIND DEVELOPMENT; FALSE BELIEF; SPECTRUM; DEAFNESS; TASKS
AB Theory of mind (ToM) development, assessed via litmus' false belief tests, is severely delayed in autism, but the standard testing procedure may underestimate these children's genuine understanding. To explore this, we developed a novel test involving competition to win a reward as the motive for tracking other players' beliefs (the Dot-Midge task'). Ninety-six children, including 23 with autism (mean age: 10.36years), 50 typically developing 4-year-olds (mean age: 4.40) and 23 typically developing 3-year-olds (mean age: 3.59) took a standard Sally-Ann' false belief test, the Dot-Midge task (which was closely matched to the Sally-Ann task procedure) and a norm-referenced verbal ability test. Results revealed that, of the children with autism, 74% passed the Dot-Midge task, yet only 13% passed the standard Sally-Ann procedure. A similar pattern of performance was observed in the older, but not the younger, typically developing control groups. This finding demonstrates that many children with autism who fail motivationally barren standard false belief tests can spontaneously use ToM to track their social partners' beliefs in the context of a competitive game.
C1 [Peterson, Candida C.; Slaughter, Virginia; Peterson, James] Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
[Premack, David] Univ Penn, Dept Psychol, Philadelphia, PA 19104 USA.
RP Peterson, CC (reprint author), Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
EM candi@psy.uq.edu.au
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NR 32
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1363-755X
J9 DEVELOPMENTAL SCI
JI Dev. Sci.
PD MAY
PY 2013
VL 16
IS 3
BP 443
EP 450
DI 10.1111/desc.12040
PG 8
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA 129TD
UT WOS:000317864500009
PM 23587041
ER
PT J
AU Donahue, KL
Lichtenstein, P
Lundstrom, S
Anckarsater, H
Gumpert, CH
Langstrom, N
D'Onofrio, BM
AF Donahue, Kelly L.
Lichtenstein, Paul
Lundstrom, Sebastian
Anckarsater, Henrik
Gumpert, Clara Hellner
Langstrom, Niklas
D'Onofrio, Brian M.
TI Childhood Behavior Problems and Adolescent Sexual Risk Behavior:
Familial Confounding in the Child and Adolescent Twin Study in Sweden
(CATSS)
SO JOURNAL OF ADOLESCENT HEALTH
LA English
DT Article
DE Adolescence; Clustered data analysis; Confounding factors; Mental
health; Sex education programs; Sexual behavior
ID TELEPHONE INTERVIEW; CAUSAL INFERENCE; VIOLENT CRIME; AUTISM-TICS;
A-TAC; INTERCOURSE; AGE; PERSPECTIVE; IMPACT; LEVEL
AB Objective: Previous studies have found associations between childhood behavior problems and adolescent sexual risk behavior. Using a quasi-experimental approach, we examined the extent to which this association may be due to between-family differences (i.e., unmeasured familial confounds) not adequately explored in prior research.
Methods: We used data from a longitudinal, population-based cohort of young twins in Sweden (first assessment: age 9 or 12 years; second assessment: age 15; n = 2,388). We explored the nature of the association between symptom scores for attention deficit hyperactivity disorder (ADHD), oppositional defiant disorder (ODD), and conduct disorder (CD) at age 9 or 12 and the likelihood of having had sexual intercourse and number of sexual partners by age 15. Two-level mixed-effects models were used to estimate the effect of symptom score on each outcome after controlling for potential unmeasured familial confounds.
Results: Higher ADHD, ODD, and CD scores were associated with significantly increased likelihood of sexual intercourse by age 15. Higher ADHD and ODD scores were also associated with increased number of sexual partners. After controlling for unmeasured familial confounds, however, behavior problems were no longer significantly associated with either outcome.
Conclusion: The association between childhood behavior problems and sexual risk behaviors may be due to characteristics shared within families. Hence, prevention strategies aimed at reducing these behaviors might need to address broader risk factors that contribute to both behavior problems and a greater likelihood of sexual risk behavior. (C) 2013 Society for Adolescent Health and Medicine. All rights reserved.
C1 [Donahue, Kelly L.; D'Onofrio, Brian M.] Indiana Univ, Dept Psychol & Brain Sci, Bloomington, IN 47405 USA.
[Lichtenstein, Paul; Langstrom, Niklas] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
[Lundstrom, Sebastian; Anckarsater, Henrik] Univ Gothenburg, Inst Neurosci & Physiol, Gothenburg, Sweden.
[Lundstrom, Sebastian; Langstrom, Niklas] Swedish Prison & Probat Serv, Res & Dev, Gothenburg, Sweden.
[Gumpert, Clara Hellner] Karolinska Inst, Dept Clin Neurosci, Stockholm, Sweden.
RP Donahue, KL (reprint author), Indiana Univ, Dept Psychol & Brain Sci, Bloomington, IN 47405 USA.
EM kldonahu@indiana.edu
FU National Institute on Drug Abuse [F31 DA 029376]; National Institute of
Child Health and Human Development [R01 HD 061384]; Swedish Council for
Working Life and Social Research; Swedish Research Council,
Systembolaget; National Board of Forensic Medicine, Riksbanken
Tercentenary Foundation; Hedlund Foundation
FX This research was supported by award number F31 DA 029376 from the
National Institute on Drug Abuse, R01 HD 061384 from the National
Institute of Child Health and Human Development, the Swedish Council for
Working Life and Social Research, the Swedish Research Council,
Systembolaget, the National Board of Forensic Medicine, Riksbanken
Tercentenary Foundation, and the Hedlund Foundation.
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NR 40
TC 4
Z9 4
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1054-139X
J9 J ADOLESCENT HEALTH
JI J. Adolesc. Health
PD MAY
PY 2013
VL 52
IS 5
BP 606
EP 612
DI 10.1016/j.jadohealth.2012.11.001
PG 7
WC Psychology, Developmental; Public, Environmental & Occupational Health;
Pediatrics
SC Psychology; Public, Environmental & Occupational Health; Pediatrics
GA 126ZD
UT WOS:000317661300017
PM 23333006
ER
PT J
AU Sears, KM
Blair, KSC
Iovannone, R
Crosland, K
AF Sears, Kacie M.
Blair, Kwang-Sun Cho
Iovannone, Rose
Crosland, Kimberly
TI Using the Prevent-Teach-Reinforce Model with Families of Young Children
with ASD
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Prevent-teach-reinforce; Family-centered intervention; Positive behavior
support; Autism spectrum disorders
ID POSITIVE BEHAVIOR SUPPORT; AUTISM; INTERVENTION; COLLABORATION
AB This study was conducted to examine the feasibility and potential efficacy of implementing an adapted, family-centered version of the school-based prevent-teach-reinforce (PTR) model. The research included two families who implemented the PTR process for their children in collaboration with the researchers. The adapted PTR was tested using a multiple baseline design across routines to examine changes in child behavior across experimental conditions. Results indicated that the adapted PTR intervention was associated with reduction in child problem behavior and increases in alternative behavior in both target and non-target routines. The results also indicated that the parents were able to implement the behavior intervention plan with fidelity and successfully use the PTR process for a novel routine. The PTR intervention also had high social validity ratings; both self- and novel-rated validity indicated that the PTR intervention was acceptable to both families and the community at large. The data are discussed in terms of the expanding evidence related to the PTR model and the extension to a family context.
C1 [Sears, Kacie M.; Blair, Kwang-Sun Cho; Iovannone, Rose; Crosland, Kimberly] Univ S Florida, Dept Child & Family Studies, Coll Behav & Community Sci, Tampa, FL 33612 USA.
RP Blair, KSC (reprint author), Univ S Florida, Dept Child & Family Studies, Coll Behav & Community Sci, 13301 Bruce B Downs Blvd,MHC 2113A, Tampa, FL 33612 USA.
EM kwangsun@usf.edu
CR Blair KSC, 2011, TOP EARLY CHILD SPEC, V31, P22, DOI 10.1177/0271121410377510
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Meadan H, 2009, TOP EARLY CHILD SPEC, V29, P90, DOI 10.1177/0271121409337950
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Newborg J, 2005, BATTELLE DEV INVENTO
Pavuluri MN, 1996, J AM ACAD CHILD PSY, V35, P215, DOI 10.1097/00004583-199602000-00015
Reimers T. M., 1988, BEHAVIORAL DISORDERS, V14, P7
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Sparrow SS, 2005, VINELAND ADAPTIVE BE
Strain PS, 2009, ISSUES CLIN CHILD PS, P107, DOI 10.1007/978-0-387-09632-2_5
Van Acker R., 2004, J BEHAV ED, V14, P35, DOI [10.1007/s10864-005-0960-5, DOI 10.1007/S10864-005-0960-5]
NR 23
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAY
PY 2013
VL 43
IS 5
BP 1005
EP 1016
DI 10.1007/s10803-012-1646-1
PG 12
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800001
PM 22972500
ER
PT J
AU Bhatti, I
Thome, A
Smith, PO
Cook-Wiens, G
Yeh, HW
Gaffney, GR
Hellings, JA
AF Bhatti, Irfan
Thome, Andrew
Smith, Patricia Oxler
Cook-Wiens, Galen
Yeh, Hung Wen
Gaffney, Gary R.
Hellings, Jessica A.
TI A Retrospective Study of Amitriptyline in Youth with Autism Spectrum
Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Amitriptyline; Autism Spectrum Disorders; Hyperactivity; Impulsivity
ID PERVASIVE DEVELOPMENTAL DISORDERS; DEFICIT HYPERACTIVITY DISORDER;
MENTAL-RETARDATION; DOUBLE-BLIND; BLOOD SEROTONIN; CHILDREN;
ADOLESCENTS; PLACEBO; RISPERIDONE; BEHAVIOR
AB We performed a retrospective chart review of 50 youths with Autism Spectrum Disorder (ASD), prescribed amitriptyline (AMI) for hyperactivity and impulsivity. Data was systematically extracted from 50 outpatient clinic charts, including AMI treatment duration, dose, trough levels and adverse events. Mean age was 9.4 years (4.6-17.9); 40 were males and 10 females. 30 % had failed atomoxetine and 40 % had failed a parts per thousand yen3 ADHD medications. Mean dose was 1.3 +/- A 0.6 mg/kg/day, mean trough level 114.1 +/- A 50.5 ng/ml, mean duration 3.4 years. Clinical Global Impressions Scale-Improvement (CGI-I) was a parts per thousand currency sign2 in 60 % of patients at the final visit, and in 82 % of patients for at least 50 % of follow-ups. Cautious use of low dose AMI shows promise for treatment-resistant youth with ASD accompanied by hyperactivity, impulsivity, aggression and self injury.
C1 [Bhatti, Irfan] Univ Kansas, Med Ctr, Div Child & Adolescent Psychiat, Kansas City, KS 66103 USA.
[Thome, Andrew] Univ Missouri, Sch Med M4, Kansas City, MO 64110 USA.
[Smith, Patricia Oxler] Univ Kansas, Med Ctr, Sch Nursing, Kansas City, KS 66103 USA.
[Yeh, Hung Wen] Univ Kansas, Med Ctr, Dept Biostat, Kansas City, KS 66103 USA.
[Gaffney, Gary R.] Univ Iowa, Med Ctr, Div Child & Adolescent Psychiat, Iowa City, IA USA.
[Hellings, Jessica A.] Ohio State Univ, Nisonger Ctr, Columbus, OH 43210 USA.
RP Hellings, JA (reprint author), Ohio State Univ, Nisonger Ctr, 1581 Dodd Dr, Columbus, OH 43210 USA.
EM Jessica.Hellings@osumc.edu
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NR 49
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAY
PY 2013
VL 43
IS 5
BP 1017
EP 1027
DI 10.1007/s10803-012-1647-0
PG 11
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800002
PM 23135317
ER
PT J
AU Chiang, CH
Wu, CC
Hou, YM
Chu, CL
Liu, JH
Soong, WT
AF Chiang, Chung-Hsin
Wu, Chin-Chin
Hou, Yuh-Ming
Chu, Ching-Lin
Liu, Jiun-Horng
Soong, Wei-Tsuen
TI Development of T-STAT for Early Autism Screening
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Screening; Young children with Autism; Taiwan
ID SPECTRUM DISORDERS; NONVERBAL-COMMUNICATION; MODIFIED CHECKLIST;
2-YEAR-OLDS STAT; YOUNG-CHILDREN; TODDLERS; INFANCY; DIAGNOSIS;
IMITATION; SIGNS
AB This study's purpose was to modify the Screening Tool for Autism in Two-Year-Olds (STAT) into a Taiwanese version called T-STAT. Study 1 included 15 children with Autism and 15 children with Developmental Delay (DD) or language impairment (LI) aged between 24 and 35 months. Study 2 had 77 young children with Autism, PDD-NOS, or DD/LI as a clinical-based validation sample. In Study 1, the signal detection procedure found that a cutoff score of 2 would yield high sensitivity and specificity in T-STAT. In Study 2, using a score of 2 as a cutoff, the agreement between T-STAT risk and ADOS classification was highly acceptable. Results were promising as a Level 2 screening tool for Autism for ages two to three.
C1 [Chiang, Chung-Hsin] Natl Chengchi Univ, Dept Psychol, Taipei 11605, Taiwan.
[Chiang, Chung-Hsin] Natl Chengchi Univ, Res Ctr Mind Brain & Learning, Taipei 11605, Taiwan.
[Wu, Chin-Chin] Kaohsiung Med Univ, Dept Psychol, Kaohsiung, Taiwan.
[Hou, Yuh-Ming; Liu, Jiun-Horng] Chia Yi Christian Hosp, Dept Psychiat, Chiayi, Taiwan.
[Chu, Ching-Lin] Natl Chung Cheng Univ, Dept Psychol, Chiayi, Taiwan.
[Liu, Jiun-Horng] Chi Mei Med Ctr, Dept Psychiat, Tainan, Taiwan.
[Soong, Wei-Tsuen] St Josephs Hosp, Dept Psychiat, Yunlin, Taiwan.
[Soong, Wei-Tsuen] Natl Taiwan Univ, Dept Psychiat, Taipei 10764, Taiwan.
[Soong, Wei-Tsuen] Natl Taiwan Univ Hosp, Taipei, Taiwan.
RP Chiang, CH (reprint author), Natl Chengchi Univ, Dept Psychol, 64,Sec 2,ZhiNan Rd, Taipei 11605, Taiwan.
EM chchiang@nccu.edu.tw
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 38
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 MAY
PY 2013
VL 43
IS 5
BP 1028
EP 1037
DI 10.1007/s10803-012-1643-4
PG 10
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800003
PM 22976373
ER
PT J
AU Kim, ES
Berkovits, LD
Bernier, EP
Leyzberg, D
Shic, F
Paul, R
Scassellati, B
AF Kim, Elizabeth S.
Berkovits, Lauren D.
Bernier, Emily P.
Leyzberg, Dan
Shic, Frederick
Paul, Rhea
Scassellati, Brian
TI Social Robots as Embedded Reinforcers of Social Behavior in Children
with Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Social robots; Assistive robots; Intervention; Embedded reinforcers
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; ASSISTIVE
ROBOTICS; VIRTUAL-REALITY; FIELD TRIAL; COMMUNICATION; THERAPY;
INTERVENTIONS; DEFICITS; SKILLS
AB In this study we examined the social behaviors of 4- to 12-year-old children with autism spectrum disorders (ASD; N = 24) during three tradic interactions with an adult confederate and an interaction partner, where the interaction partner varied randomly among (1) another adult human, (2) a touchscreen computer game, and (3) a social dinosaur robot. Children spoke more in general, and directed more speech to the adult confederate, when the interaction partner was a robot, as compared to a human or computer game interaction partner. Children spoke as much to the robot as to the adult interaction partner. This study provides the largest demonstration of social human-robot interaction in children with autism to date. Our findings suggest that social robots may be developed into useful tools for social skills and communication therapies, specifically by embedding social interaction into intrinsic reinforcers and motivators.
C1 [Kim, Elizabeth S.; Bernier, Emily P.; Leyzberg, Dan; Scassellati, Brian] Yale Univ, Dept Comp Sci, New Haven, CT 06520 USA.
[Kim, Elizabeth S.; Berkovits, Lauren D.; Shic, Frederick; Paul, Rhea] Yale Univ, Sch Med, Ctr Child Study, New Haven, CT 06510 USA.
[Paul, Rhea] Sacred Heart Univ, Fairfield, CT USA.
RP Kim, ES (reprint author), Yale Univ, Sch Med, Ctr Child Study, 40 Temple St Ste 7D, New Haven, CT 06510 USA.
EM elizabeth.kim@yale.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 46
TC 8
Z9 8
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 MAY
PY 2013
VL 43
IS 5
BP 1038
EP 1049
DI 10.1007/s10803-012-1645-2
PG 12
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800004
PM 23111617
ER
PT J
AU Goods, KS
Ishijima, E
Chang, YC
Kasari, C
AF Goods, Kelly Stickles
Ishijima, Eric
Chang, Ya-Chih
Kasari, Connie
TI Preschool Based JASPER Intervention in Minimally Verbal Children with
Autism: Pilot RCT
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Minimally verbal; Intervention
ID JOINT ATTENTION; SPECTRUM DISORDER; PLAY; LANGUAGE; PREDICTORS;
PATTERNS; TRIAL; AGE
AB In this pilot study, we tested the effects of a novel intervention (JASPER, Joint Attention Symbolic Play Engagement and Regulation) on 3 to 5 year old, minimally verbal children with autism who were attending a non-public preschool. Participants were randomized to a control group (treatment as usual, 30 h of ABA-based therapy per week) or a treatment group (substitution of 30 min of JASPER treatment, twice weekly during their regular program). A baseline of 12 weeks in which no changes were noted in core deficits was followed by 12 weeks of intervention for children randomized to the JASPER treatment. Participants in the treatment group demonstrated greater play diversity on a standardized assessment. Effects also generalized to the classroom, where participants in the treatment group initiated more gestures and spent less time unengaged. These results provide further support that even brief, targeted interventions on joint attention and play can improve core deficits in minimally verbal children with ASD.
C1 [Goods, Kelly Stickles] Univ Calif Los Angeles, Ctr Autism Res & Treatment, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90024 USA.
[Ishijima, Eric; Chang, Ya-Chih; Kasari, Connie] Univ Calif Los Angeles, Ctr Autism Res & Treatment, Semel Inst Neurosci & Human Behav, Div Psychol Studies Educ, Los Angeles, CA 90024 USA.
RP Goods, KS (reprint author), Univ Calif Los Angeles, Ctr Autism Res & Treatment, Semel Inst Neurosci & Human Behav, 760 Westwood Plaza,Semel 67-464, Los Angeles, CA 90024 USA.
EM kgoods@mednet.ucla.edu
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NR 27
TC 6
Z9 6
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAY
PY 2013
VL 43
IS 5
BP 1050
EP 1056
DI 10.1007/s10803-012-1644-3
PG 7
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800005
PM 22965298
ER
PT J
AU Wang, L
Mandell, DS
Lawer, L
Cidav, Z
Leslie, DL
AF Wang, Li
Mandell, David S.
Lawer, Lindsay
Cidav, Zuleyha
Leslie, Douglas L.
TI Healthcare Service Use and Costs for Autism Spectrum Disorder: A
Comparison Between Medicaid and Private Insurance
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Children; Healthcare costs; Service use;
Medicaid; Private insurance
ID ENROLLED CHILDREN; NATIONAL-SURVEY; NEEDS; EXPENDITURES; ACCESS;
LIMITATIONS; DIAGNOSIS; COVERAGE; STATE
AB Healthcare costs and service use for autism spectrum disorder (ASD) were compared between Medicaid and private insurance, using 2003 insurance claims data in 24 states. In terms of costs and service use per child with ASD, Medicaid had higher total healthcare costs ($22,653 vs. $5,254), higher ASD-specific costs ($7,438 vs. $928), higher psychotropic medication costs($1,468 vs. $875), more speech therapy visits (13.0 vs. 3.6 visits), more occupational/physical therapy visits (6.4 vs. 0.9 visits), and more behavior modification/social skills visits (3.8 vs. 1.1 visits) than private insurance (all p < 0.0001). In multivariate analysis, being enrolled in Medicaid had the largest effect on costs, after controlling for other variables. The findings emphasize the need for continued efforts to improve private insurance coverage of autism.
C1 [Wang, Li; Leslie, Douglas L.] Penn State Univ, Coll Med, Dept Publ Hlth Sci, University Pk, PA 16802 USA.
[Wang, Li] Penn State Coll Med Publ Hlth Sci, Hershey, PA 17033 USA.
[Mandell, David S.] Univ Penn, Sch Med, Dept Psychiat & Pediat, University Pk, PA USA.
[Lawer, Lindsay; Cidav, Zuleyha] Univ Penn, Sch Med, Dept Psychiat, Ctr Mental Hlth Policy & Serv Res, University Pk, PA USA.
[Leslie, Douglas L.] Penn State Univ, Coll Med, Dept Psychiat, University Pk, PA 16802 USA.
RP Wang, L (reprint author), Penn State Coll Med Publ Hlth Sci, A210 600 Centerview Dr,POB 855, Hershey, PA 17033 USA.
EM lwang@psu.edu
RI Mandell, David/H-2730-2012
OI Mandell, David/0000-0001-8240-820X
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NR 43
TC 4
Z9 4
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAY
PY 2013
VL 43
IS 5
BP 1057
EP 1064
DI 10.1007/s10803-012-1649-y
PG 8
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800006
PM 22965299
ER
PT J
AU Sanderson, C
Allen, ML
AF Sanderson, Charlotte
Allen, Melissa L.
TI The Specificity of Inhibitory Impairments in Autism and Their Relation
to ADHD-Type Symptoms
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Inhibition; ADHD; Executive function
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY
DISORDER; SPECTRUM DISORDER; EXECUTIVE FUNCTION; WORKING-MEMORY;
INDIVIDUAL-DIFFERENCES; FRONTAL-LOBE; STROOP TASK; DEVELOPMENTAL
DISORDERS; RESPONSE-INHIBITION
AB Findings on inhibitory control in autism have been inconsistent. This is perhaps a reflection of the different tasks that have been used. Children with autism (CWA) and typically developing controls, matched for verbal and non-verbal mental age, completed three tasks of inhibition, each representing different inhibitory subcomponents: Go/No-Go (delay inhibition), Dog-Pig Stroop (conflict inhibition), and a Flanker task (resistance to distractor inhibition). Behavioural ratings of inattention and hyperactivity/impulsivity were also obtained, as a possible source of heterogeneity in inhibitory ability. CWA were only impaired on the conflict inhibition task, suggesting that inhibitory difficulty is not a core executive deficit in autism. Symptoms of inattention were related to conflict task performance, and thus may be an important predictor of inhibitory heterogeneity.
C1 [Sanderson, Charlotte; Allen, Melissa L.] Univ Lancaster, Dept Psychol, Lancaster LA1 4YW, England.
RP Sanderson, C (reprint author), UCL, Inst Child Hlth, Behav & Brain Sci Unit, 30 Guilford St, London WC1N 1EH, England.
EM charlotte.sanderson107@gmail.com
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NR 90
TC 5
Z9 5
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAY
PY 2013
VL 43
IS 5
BP 1065
EP 1079
DI 10.1007/s10803-012-1650-5
PG 15
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800007
PM 23054200
ER
PT J
AU Magana, S
Smith, LE
AF Magana, Sandy
Smith, Leann E.
TI The Use of the Autism Diagnostic Interview-Revised with a Latino
Population of Adolescents and Adults with Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE ADI-R; Culture; Latino; Adolescents and adults; Autism
ID SPECTRUM DISORDERS; REPETITIVE BEHAVIORS; CHILDREN; MOTHERS; ISSUES;
CLASSIFICATION; PERSPECTIVES; SCHEDULE; SERVICES; SPANISH
AB Research shows that Latinos are less likely to be diagnosed with autism than their non-Latino counterparts. One factor that may contribute to these differences is that autism diagnostic instruments have not been adapted for the Latino population. The present study compared scores from the Autism Diagnostic Interview-Revised for two groups: 48 Latino adolescents and adults with autism and a matched sample of 96 non-Latino Whites. There were no significant differences between the two groups in total impairments in social reciprocity or communication. However, lower levels of restrictive-and-repetitive behaviors were found among Latino adolescents and adults with autism compared to Whites. Findings suggest that there may be cultural equivalency in some domains, but others may warrant further exploration.
C1 [Magana, Sandy] Univ Illinois, Dept Disabil & Human Dev, Chicago, IL 60608 USA.
[Smith, Leann E.] Univ Wisconsin, Waisman Ctr, Madison, WI 53705 USA.
RP Magana, S (reprint author), Univ Illinois, Dept Disabil & Human Dev, 1640 Roosevelt Rd, Chicago, IL 60608 USA.
EM maganas@uic.edu
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NR 33
TC 3
Z9 3
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAY
PY 2013
VL 43
IS 5
BP 1098
EP 1105
DI 10.1007/s10803-012-1652-3
PG 8
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800009
PM 22972501
ER
PT J
AU Lau, YC
Hinkley, LBN
Bukshpun, P
Strominger, ZA
Wakahiro, MLJ
Baron-Cohen, S
Allison, C
Auyeung, B
Jeremy, RJ
Nagarajan, SS
Sherr, EH
Marco, EJ
AF Lau, Yolanda C.
Hinkley, Leighton B. N.
Bukshpun, Polina
Strominger, Zoe A.
Wakahiro, Mari L. J.
Baron-Cohen, Simon
Allison, Carrie
Auyeung, Bonnie
Jeremy, Rita J.
Nagarajan, Srikantan S.
Sherr, Elliott H.
Marco, Elysa J.
TI Autism Traits in Individuals with Agenesis of the Corpus Callosum
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Agenesis of the corpus callosum; Autism spectrum disorders; Autism
Spectrum Quotient; Functional connectivity; Magnetoencephalography;
Superior temporal gyrus
ID PERVASIVE DEVELOPMENTAL DISORDERS; SUPERIOR TEMPORAL GYRUS; WHITE-MATTER
COMPROMISE; SPECTRUM QUOTIENT AQ; FRAGILE-X-SYNDROME; FUNCTIONAL
CONNECTIVITY; SOCIAL COGNITION; CHILDREN; ADOLESCENTS; PREVALENCE
AB Autism spectrum disorders (ASD) have numerous etiologies, including structural brain malformations such as agenesis of the corpus callosum (AgCC). We sought to directly measure the occurrence of autism traits in a cohort of individuals with AgCC and to investigate the neural underpinnings of this association. We screened a large AgCC cohort (n = 106) with the Autism Spectrum Quotient (AQ) and found that 45 % of children, 35 % of adolescents, and 18 % of adults exceeded the predetermined autism-screening cut-off. Interestingly, performance on the AQ's imagination domain was inversely correlated with magnetoencephalography measures of resting-state functional connectivity in the right superior temporal gyrus. Individuals with AgCC should be screened for ASD and disorders of the corpus callosum should be considered in autism diagnostic evaluations as well.
C1 [Lau, Yolanda C.] Univ Calif San Francisco, Sch Med, San Francisco, CA 94143 USA.
[Hinkley, Leighton B. N.; Nagarajan, Srikantan S.] Univ Calif San Francisco, Dept Radiol & Biomed Imaging, San Francisco, CA 94143 USA.
[Bukshpun, Polina; Wakahiro, Mari L. J.; Sherr, Elliott H.; Marco, Elysa J.] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA.
[Strominger, Zoe A.] Univ Calif San Francisco, Sch Nursing, San Francisco, CA 94143 USA.
[Baron-Cohen, Simon; Allison, Carrie; Auyeung, Bonnie] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England.
[Jeremy, Rita J.] Univ Calif San Francisco, Pediat Clin Res Ctr, Clin & Translat Sci Inst, San Francisco, CA 94143 USA.
RP Sherr, EH (reprint author), Univ Calif San Francisco, Dept Neurol, 350 Parnassus Ave,Ste 609,Box 0137, San Francisco, CA 94143 USA.
EM SherrE@neuropeds.ucsf.edu; marcoe@neuropeds.ucsf.edu
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NR 78
TC 11
Z9 11
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAY
PY 2013
VL 43
IS 5
BP 1106
EP 1118
DI 10.1007/s10803-012-1653-2
PG 13
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800010
PM 23054201
ER
PT J
AU Shaw, TA
Porter, MA
AF Shaw, Tracey A.
Porter, Melanie A.
TI Emotion Recognition and Visual-Scan Paths in Fragile X Syndrome
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Fragile X syndrome; Developmental disorders; Emotion recognition;
Eye-tracking; Scan-paths
ID AUTISM SPECTRUM DISORDER; SCHIZOTYPAL PERSONALITY-DISORDER; FACIAL
EXPRESSIONS; WILLIAMS-SYNDROME; SOCIAL COGNITION; FACE RECOGNITION;
EYE-MOVEMENTS; METHODOLOGICAL ISSUES; AMYGDALA DYSFUNCTION; TRAITS
QUESTIONNAIRE
AB This study investigated emotion recognition abilities and visual scanning of emotional faces in 16 Fragile X syndrome (FXS) individuals compared to 16 chronological-age and 16 mental-age matched controls. The relationships between emotion recognition, visual scan-paths and symptoms of social anxiety, schizotypy and autism were also explored. Results indicated that, compared to both control groups, the FXS group displayed specific emotion recognition deficits for angry and neutral (but not happy or fearful) facial expressions. Despite these evident emotion recognition deficits, the visual scanning of emotional faces was found to be at developmentally appropriate levels in the FXS group. Significant relationships were also observed between visual scan-paths, emotion recognition performance and symptomology in the FXS group.
C1 [Shaw, Tracey A.] Macquarie Univ, Dept Cognit Sci, Sydney, NSW 2109, Australia.
[Shaw, Tracey A.; Porter, Melanie A.] Macquarie Univ, ARC Ctr Cognit & Its Disorders, Sydney, NSW 2109, Australia.
[Porter, Melanie A.] Macquarie Univ, Dept Psychol, Sydney, NSW 2109, Australia.
RP Shaw, TA (reprint author), Macquarie Univ, Dept Cognit Sci, Sydney, NSW 2109, Australia.
EM tracey.shaw@mq.edu.au; melanie.porter@mq.edu.au
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NR 126
TC 4
Z9 4
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAY
PY 2013
VL 43
IS 5
BP 1119
EP 1139
DI 10.1007/s10803-012-1654-1
PG 21
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800011
PM 23015109
ER
PT J
AU Centelles, L
Assaiante, C
Etchegoyhen, K
Bouvard, M
Schmitz, C
AF Centelles, Laurie
Assaiante, Christine
Etchegoyhen, Katallin
Bouvard, Manuel
Schmitz, Christina
TI From Action to Interaction: Exploring the Contribution of Body Motion
Cues to Social Understanding in Typical Development and in Autism
Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Point-light display; Non-verbal communication; Children; Autism; Action
representation; Social interaction
ID MIRROR NEURON SYSTEM; ACTION-OBSERVATION NETWORK; DORSAL VISUAL PATHWAY;
BIOLOGICAL MOTION; POINT-LIGHT; WEAK COHERENCE; YOUNG-CHILDREN; OTHERS
ACTIONS; HUMAN INFANTS; PERCEPTION
AB Two studies investigated whether typically developing children (TD) and children with autism spectrum disorders (ASD) were able to decide whether two characters were communicating or not on the basis of point-light displays. Point-lights portrayed actors engaged or not in a social interaction. In study 1, TD children (4-10 years old; n = 36) grasped social intentions from body language, with a notable improvement around 7/8. In study 2, children with ASD (6-12 years old; n = 12) could categorize the point-light displays at above-chance levels, but performed less efficiently, especially for the social interaction displays, than TD children (matched to chronological and non-verbal mental age, 6-12 years old; n = 24). An action representation deficit is discussed in relation to a social representation deficit and it is suggested that these deficits might be linked to altered maturational process of the mirror system in ASD.
C1 [Centelles, Laurie; Assaiante, Christine; Schmitz, Christina] Univ Aix Marseille 1, Equipe Dev & Pathol Act, Lab Neurosci Integrat & Adaptat, F-13331 Marseille 03, France.
[Centelles, Laurie; Assaiante, Christine; Schmitz, Christina] CNRS, F-13331 Marseille 03, France.
[Etchegoyhen, Katallin; Bouvard, Manuel] Ctr Hosp Charles Perrens, Pole Univ Psychiat Enfant & Adolescent, F-33076 Bordeaux, France.
[Schmitz, Christina] Ctr Hosp Le Vinatier, INSERM, U1028, Lyon Neurosci Res Ctr,CNRS,UMR 5292, F-69675 Bron, France.
[Schmitz, Christina] Univ Lyon 1, F-69365 Lyon, France.
RP Schmitz, C (reprint author), Ctr Hosp Le Vinatier, INSERM, U1028, Lyon Neurosci Res Ctr,CNRS,UMR 5292, Bat 452,95 Blvd Pinel, F-69675 Bron, France.
EM christina.schmitz@inserm.fr
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NR 75
TC 6
Z9 6
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAY
PY 2013
VL 43
IS 5
BP 1140
EP 1150
DI 10.1007/s10803-012-1655-0
PG 11
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800012
PM 23008056
ER
PT J
AU Begeer, S
Mandell, D
Wijnker-Holmes, B
Venderbosch, S
Rem, D
Stekelenburg, F
Koot, HM
AF Begeer, Sander
Mandell, David
Wijnker-Holmes, Bernadette
Venderbosch, Stance
Rem, Dorien
Stekelenburg, Fred
Koot, Hans M.
TI Sex Differences in the Timing of Identification Among Children and
Adults with Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Identification; Sex; Asperger's syndrome; Diagnosis
ID DIAGNOSIS; AGE; GENDER; PSYCHOPATHOLOGY; SYMPTOMS; TODDLERS; PEOPLE
AB To examine differences by sex in the timing of identification of individuals with autism spectrum disorders (ASD), survey data were collected in the Netherlands from 2,275 males and females with autistic disorder, Asperger's syndrome and PDD-NOS. Among participants < 18 years of age, females with Asperger's syndrome were identified later than males. Among participants a parts per thousand yen18 years of age, females with autistic disorder were identified later than males. In more recent years, girls with Asperger's syndrome are diagnosed later than boys, confirming earlier findings. In adults, the delayed timing of diagnosis in females with autistic disorder may be related to changing practices in diagnosis over time. Strategies for changing clinician behaviour to improve recognition of ASD in females are needed.
C1 [Begeer, Sander] Univ Sydney, Sch Psychol, Sydney, NSW 2006, Australia.
[Begeer, Sander; Koot, Hans M.] Vrije Univ Amsterdam, Dept Dev Psychol, Amsterdam, Netherlands.
[Mandell, David] Univ Penn, Philadelphia, PA 19104 USA.
[Wijnker-Holmes, Bernadette; Venderbosch, Stance; Rem, Dorien; Stekelenburg, Fred] Nederlandse Vereniging Autisme, Bilthoven, Netherlands.
[Rem, Dorien] Univ Utrecht, Utrecht, Netherlands.
RP Begeer, S (reprint author), Univ Sydney, Sch Psychol, Sydney, NSW 2006, Australia.
EM S.Begeer@vu.nl
RI Mandell, David/H-2730-2012
OI Mandell, David/0000-0001-8240-820X
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NR 36
TC 10
Z9 10
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAY
PY 2013
VL 43
IS 5
BP 1151
EP 1156
DI 10.1007/s10803-012-1656-z
PG 6
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800013
PM 23001766
ER
PT J
AU Demopoulos, C
Hopkins, J
Davis, A
AF Demopoulos, Carly
Hopkins, Joyce
Davis, Amy
TI A Comparison of Social Cognitive Profiles in children with Autism
Spectrum Disorders and Attention-Deficit/Hyperactivity Disorder: A
Matter of Quantitative but not Qualitative Difference?
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; ADHD; Social skills; Facial and vocal affect recognition;
Pragmatic judgment; Parent and teacher report
ID DEFICIT HYPERACTIVITY DISORDER; PERVASIVE DEVELOPMENTAL DISORDER;
DIAGNOSTIC OBSERVATION SCHEDULE; HIGH-FUNCTIONING ADULTS; FACIAL
EXPRESSIONS; ASPERGERS-SYNDROME; EMOTION RECOGNITION; ADHD; PERCEPTION;
COMMUNICATION
AB The aim of this study was to compare social cognitive profiles of children and adolescents with Autism Spectrum Disorders (ASD) and ADHD. Participants diagnosed with an ASD (n = 137) were compared to participants with ADHD (n = 436) on tests of facial and vocal affect recognition, social judgment and problem-solving, and parent- and teacher-report of social functioning. Both groups performed significantly worse than the normative sample on all measures. Although the ASD group had more severe deficits, the pattern of deficits was surprisingly similar between groups, suggesting that social cognitive deficit patterns may be more similar in ASD and ADHD than previously thought. Thus, like those with ASDs, individuals with ADHD may also need to be routinely considered for treatments targeting social skills.
C1 [Demopoulos, Carly; Hopkins, Joyce] IIT, Dept Psychol, Chicago, IL 60616 USA.
[Demopoulos, Carly] Mind Res Network, Albuquerque, NM 87106 USA.
[Davis, Amy] Alexian Bros Neurosci Inst, Elk Grove Village, IL 60003 USA.
RP Demopoulos, C (reprint author), Mind Res Network, Pete & Nancy Domenici Hall,1101 Yale Blvd NE, Albuquerque, NM 87106 USA.
EM carlydemopoulos@gmail.com
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NR 96
TC 5
Z9 5
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAY
PY 2013
VL 43
IS 5
BP 1157
EP 1170
DI 10.1007/s10803-012-1657-y
PG 14
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800014
PM 23015110
ER
PT J
AU Major, NE
Peacock, G
Ruben, W
Thomas, J
Weitzman, CC
AF Major, Nili E.
Peacock, Georgina
Ruben, Wendy
Thomas, Jana
Weitzman, Carol C.
TI Autism Training in Pediatric Residency: Evaluation of a Case-Based
Curriculum
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Medical education; Residency; Curriculum
ID SPECTRUM DISORDERS; PRIMARY-CARE; MEDICAL HOMES; CHILDREN; HEALTH
AB Despite recent studies indicating the high prevalence of autism spectrum disorders (ASDs), there has been little focus on improving ASD education during pediatric residency training. The objective of this study was to evaluate a new curriculum developed in partnership with the Centers for Disease Control and Prevention and the Maternal and Child Health Bureau about ASDs. "Autism Case Training (ACT): A Developmental-Behavioral Pediatrics Curriculum" consists of 7 case-based teaching modules. Modules were facilitated by faculty at 26 pediatric residency programs and data were obtained on 114 residents. Pre- and post-test data revealed significant short-term improvements in residents' knowledge and self-assessed competence regarding ASDs. Findings suggest that the ACT curriculum is effective in enhancing training about ASDs in pediatric residency programs.
C1 [Major, Nili E.; Weitzman, Carol C.] Yale Univ, Sch Med, Dept Pediat, New Haven, CT 06520 USA.
[Peacock, Georgina] Ctr Dis Control & Prevent, Atlanta, GA USA.
[Ruben, Wendy; Thomas, Jana] Porter Novelli, Atlanta, GA USA.
RP Major, NE (reprint author), Yale Univ, Sch Med, Dept Pediat, 333 Cedar St,POB 208064, New Haven, CT 06520 USA.
EM nili.major@yale.edu; carol.weitzman@yale.edu
CR Allen SG, 2010, PEDIATRICS, V126, pS160, DOI 10.1542/peds.2010-1466K
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American Academy of Pediatrics, 2007, AUT CAR CHILDR AUT S
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Brachlow AE, 2007, ARCH PEDIAT ADOL MED, V161, P399, DOI 10.1001/archpedi.161.4.399
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CDC, 2012, MMWR SURVEILL SUMM, V61, P1
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Heidgerken AD, 2005, J AUTISM DEV DISORD, V35, P323, DOI 10.1007/s10803-005-3298-x
Johnson CP, 2007, PEDIATRICS, V120, P1183, DOI 10.1542/peds.2007-2361
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Warren Z, 2009, J DEV BEHAV PEDIATR, V30, P442, DOI 10.1097/DBP.0b013e3181ba0e4e
NR 21
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAY
PY 2013
VL 43
IS 5
BP 1171
EP 1177
DI 10.1007/s10803-012-1662-1
PG 7
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800015
PM 23008057
ER
PT J
AU Sonie, S
Kassai, B
Pirat, E
Bain, P
Robinson, J
Gomot, M
Barthelemy, C
Charvet, D
Rochet, T
Tatou, M
Assouline, B
Cabrol, S
Chabane, N
Arnaud, V
Faure, P
Manificat, S
AF Sonie, Sandrine
Kassai, Behrouz
Pirat, Elodie
Bain, Paul
Robinson, Janine
Gomot, Marie
Barthelemy, Catherine
Charvet, Dorothee
Rochet, Thierry
Tatou, Mohamed
Assouline, Brigitte
Cabrol, Stephane
Chabane, Nadia
Arnaud, Valerie
Faure, Patricia
Manificat, Sabine
TI The French Version of the Autism-Spectrum Quotient in Adolescents: A
Cross-Cultural Validation Study
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Adolescent; Asperger syndrome/diagnosis; Autism spectrum
disorders/diagnosis; Cross-cultural comparison; France; Personality
assessment
ID CHILDRENS VERSION; AQ
AB We assessed the accuracy of the French version of the Autism Spectrum Quotient (AQ) in adolescents with Asperger syndrome (AS) and high-functioning autism (HFA) compared to healthy controls and adolescents with psychiatric disorders (PDs). Three groups of adolescents, aged 11-18, were assessed: 116 with AS/HFA (93 with IQ a parts per thousand yen 85 and 20 with 70 a parts per thousand currency sign IQ < 85), 39 with other PDs, and 199 healthy controls. The AS/HFA group scored significantly higher than the healthy control and PD groups. A cut-off score of 26 was used to differentiate the autism group from healthy controls with 0.89 sensitivity and 0.98 specificity. Scores did not vary by age or sex.
C1 [Sonie, Sandrine; Pirat, Elodie; Manificat, Sabine] Ctr Hosp Le Vinatier, Ctr Ressource Autisme Rhone Alpes, INSERM U1028, CNRS UMR 5292, F-69677 Bron, France.
[Kassai, Behrouz; Pirat, Elodie] INSERM, CIC201, EPICIME, RIPPS, F-69000 Lyon, France.
[Kassai, Behrouz; Pirat, Elodie] CHU Lyon, Serv Pharmacol Clin, F-69000 Lyon, France.
[Kassai, Behrouz; Pirat, Elodie] Univ Lyon, UMR 5558, F-69000 Lyon, France.
[Robinson, Janine] Cambridgeshire & Peterborough NHS Fdn Trust, CLASS, Cambridge, England.
[Gomot, Marie; Barthelemy, Catherine] Univ Tours, Ctr Pedopsychiat, CHU Bretonneau, UMR INSERM 930, F-37044 Tours, France.
[Charvet, Dorothee] Ctr Hosp St Jean Dieu, Unite Ulysse Adolescents, Lyon, France.
[Rochet, Thierry; Tatou, Mohamed] Ctr Hosp Le Vinatier, Serv FLAVIGNY Hosp Adolescents, F-69677 Bron, France.
[Assouline, Brigitte] Ctr Hosp Alpes Isere, Ctr Alpin Diagnost Precoce Autisme, St Egreve, France.
[Cabrol, Stephane] Ctr Evaluat Savoyard Autisme, Chambery, France.
[Chabane, Nadia] Hop Robert Debre, F-75019 Paris, France.
[Arnaud, Valerie; Manificat, Sabine] Ctr Hosp St Jean Dieu, Lyon, France.
[Faure, Patricia] Ctr Hosp St Jean Dieu, METEORE, Serv Biostat, Grp Francais Epidemiol Psychiat, Lyon, France.
RP Sonie, S (reprint author), Ctr Hosp Le Vinatier, Ctr Ressource Autisme Rhone Alpes, INSERM U1028, CNRS UMR 5292, Bat 211,95 Blvd Pinel, F-69677 Bron, France.
EM sandrine.sonie@ch-le-vinatier.fr
CR Aussilloux C, 2008, REV NEUROL-FRANCE, V164, P406, DOI 10.1016/j.neurol.2008.01.009
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World Health Organization, 1992, ICD 10 INT STAT CLAS, V1
NR 15
TC 3
Z9 3
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAY
PY 2013
VL 43
IS 5
BP 1178
EP 1183
DI 10.1007/s10803-012-1663-0
PG 6
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800016
PM 23015111
ER
PT J
AU Barton, ML
Robins, DL
Jashar, D
Brennan, L
Fein, D
AF Barton, Marianne L.
Robins, Diana L.
Jashar, Dasal
Brennan, Laura
Fein, Deborah
TI Sensitivity and Specificity of Proposed DSM-5 Criteria for Autism
Spectrum Disorder in Toddlers
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; DSM-5; Toddlers; Diagnosis
ID PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC INTERVIEW; YOUNG-CHILDREN;
FOLLOW-UP; IV; INDIVIDUALS
AB Autism spectrum disorder (ASD) diagnosis is based on behavioral presentation; changes in conceptual models or defining behaviors may significantly impact diagnosis and uptake of ASD-specific interventions. The literature examining impact of DSM-5 criteria is equivocal. Toddlers may be especially vulnerable to the stringent requirements of impairment in all three social-communication symptoms and two restricted/repetitive symptoms. Receiver operating characteristic (ROC) curves identified optimal cutoffs for sums of ADOS and ADI-R criteria mapped to each criterion for 422 toddlers. The optimal modification of DSM-5 criteria (sensitivity = 0.93, specificity = 0.74) required meeting the ROC-determined cutoffs for 2/3 Domain A criteria and 1 point for 1/4 Domain B criteria. This modification will help insure that ASD is identified accurately in young children, facilitating ASD-specific early intervention.
C1 [Barton, Marianne L.; Jashar, Dasal; Brennan, Laura; Fein, Deborah] Univ Connecticut, Dept Psychol, Unit 1020, Storrs, CT USA.
[Robins, Diana L.] Georgia State Univ, Dept Psychol, Atlanta, GA 30302 USA.
RP Robins, DL (reprint author), Georgia State Univ, Dept Psychol, POB 5010, Atlanta, GA 30302 USA.
EM drobins@gsu.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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CDC, 2012, MMWR SURVEILL SUMM, V61, P1
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Rutter M., 2003, AUTISM DIAGNOSTIC IN
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NR 38
TC 11
Z9 11
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAY
PY 2013
VL 43
IS 5
BP 1184
EP 1195
DI 10.1007/s10803-013-1817-8
PG 12
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800017
PM 23543293
ER
PT J
AU Bilder, D
Botts, EL
Smith, KR
Pimentel, R
Farley, M
Viskochil, J
McMahon, WM
Block, H
Ritvo, E
Ritvo, RA
Coon, H
AF Bilder, Deborah
Botts, Elizabeth L.
Smith, Ken R.
Pimentel, Richard
Farley, Megan
Viskochil, Joseph
McMahon, William M.
Block, Heidi
Ritvo, Edward
Ritvo, Riva-Ariella
Coon, Hilary
TI Excess Mortality and Causes of Death in Autism Spectrum Disorders: A
Follow up of the 1980s Utah/UCLA Autism Epidemiologic Study
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Mortality; Causes of death; Epilepsy;
Intellectual disability
ID EPILEPSY; INDIVIDUALS; CHILDREN; SURVEILLANCE; PREVALENCE; UPDATE
AB This study's purpose was to investigate mortality among individuals with autism spectrum disorders (ASD) ascertained during a 1980s statewide autism prevalence study (n = 305) in relation to controls. Twenty-nine of these individuals (9.5 %) died by the time of follow up, representing a hazard rate ratio of 9.9 (95 % CI 5.7-17.2) in relation to population controls. Death certificates identified respiratory, cardiac, and epileptic events as the most common causes of death. The elevated mortality risk associated with ASD in the study cohort appeared related to the presence of comorbid medical conditions and intellectual disability rather than ASD itself suggesting the importance of coordinated medical care for this high risk sub-population of individuals with ASD.
C1 [Bilder, Deborah; Botts, Elizabeth L.; Farley, Megan; McMahon, William M.; Coon, Hilary] Univ Utah, Dept Psychiat, Salt Lake City, UT 84108 USA.
[Bilder, Deborah] Neurobehav HOME Program, Salt Lake City, UT 84108 USA.
[Smith, Ken R.; Pimentel, Richard] Univ Utah, Utah Populat Database, Utah Huntsman Canc Inst, Salt Lake City, UT 84112 USA.
[Viskochil, Joseph] Univ Utah, Dept Educ Psychol, Salt Lake City, UT 84108 USA.
[McMahon, William M.; Coon, Hilary] Univ Utah, Inst Brain, Salt Lake City, UT 84108 USA.
[Block, Heidi] Univ Utah, Salt Lake City, UT 84108 USA.
[Ritvo, Edward] Univ Calif Los Angeles, Los Angeles, CA 90095 USA.
[Ritvo, Riva-Ariella] Yale Univ, Sch Med, Los Angeles, CA 90049 USA.
RP Bilder, D (reprint author), Neurobehav HOME Program, 650 Komas Dr,Suite 200, Salt Lake City, UT 84108 USA.
EM deborah.bilder@hsc.utah.edu
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NR 28
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 MAY
PY 2013
VL 43
IS 5
BP 1196
EP 1204
DI 10.1007/s10803-012-1664-z
PG 9
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800018
PM 23008058
ER
PT J
AU Pugliese, CE
White, BA
White, SW
Ollendick, TH
AF Pugliese, Cara E.
White, Bradley A.
White, Susan W.
Ollendick, Thomas H.
TI Social Anxiety Predicts Aggression in Children with ASD: Clinical
Comparisons with Socially Anxious and Oppositional Youth
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Asperger's; Aggression; Child; Social anxiety
ID PERVASIVE DEVELOPMENTAL DISORDERS; HIGH-FUNCTIONING CHILDREN; AUTISM
SPECTRUM DISORDER; ASPERGER-SYNDROME; DSM-IV; INTERVIEW SCHEDULE; PARENT
VERSIONS; ADOLESCENTS; RELIABILITY; SYMPTOMS
AB The present study examined the degree to which social anxiety predicts aggression in children with high functioning autism spectrum disorders (HFASD, n = 20) compared to children with Social Anxiety Disorder (SAD, n = 20) or with Oppositional Defiant Disorder or Conduct Disorder (ODD/CD, n = 20). As predicted, children with HFASD reported levels of humiliation/rejection fears commensurate with children with SAD and exhibited aggression at levels commensurate with ODD/CD, and a curvilinear relationship between social fears and aggression was found in the HFASD group only. Results indicate the possibility of an optimal level of social-evaluative fears that is unique for children with HFASD; too little social fear or too much may contribute to problems with aggression.
C1 [Pugliese, Cara E.; White, Bradley A.; White, Susan W.; Ollendick, Thomas H.] Virginia Polytech State Inst & Univ, Dept Psychol, Blacksburg, VA 24060 USA.
RP Pugliese, CE (reprint author), Virginia Polytech State Inst & Univ, Dept Psychol, 109 Williams Hall, Blacksburg, VA 24060 USA.
EM CPugliese@vt.edu
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NR 49
TC 6
Z9 6
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAY
PY 2013
VL 43
IS 5
BP 1205
EP 1213
DI 10.1007/s10803-012-1666-x
PG 9
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800019
PM 23008059
ER
PT J
AU Al-Farsi, YM
Waly, MI
Al-Sharbati, MM
Al-Shafaee, M
Al-Farsi, O
Al-Fahdi, S
Ouhtit, A
Al-Khaduri, M
Al-Adawi, S
AF Al-Farsi, Yahya M.
Waly, Mostafa I.
Al-Sharbati, Marwan M.
Al-Shafaee, Mohamed
Al-Farsi, Omar
Al-Fahdi, Samiya
Ouhtit, Allal
Al-Khaduri, Maha
Al-Adawi, Samir
TI Variation in Socio-Economic Burden for Caring of Children with Autism
Spectrum Disorder in Oman: Caregiver Perspectives
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Socio-economic burden; Autism; ASD; Caregiver; Oman
ID HEALTH-CARE UTILIZATION; PARENTS; EXPENDITURES; DISABILITIES; SERVICES;
PROFILE
AB A cross-sectional study was conducted to investigate whether caregiver's variations in socioeconomic status (SES) has direct bearing on challenges of nurturing children with autism spectrum disorder (ASD) in Oman. A cadre of caregivers (n = 150) from two types of SES (low-income and middle-high income) were compared based on four domains: (1) accessing and perception of remedial services, (2) utilization and perception of psychiatric services, (3) constraints for being a caregiver of children with ASD and (4) financial expenses of taking care of children with ASD. There is little indication that any particular SES fare well on these domains. Factors to mitigate such predicaments are therefore imperative in order to improve quality of life for caregivers among children with ASD.
C1 [Al-Farsi, Yahya M.; Al-Shafaee, Mohamed; Al-Farsi, Omar; Al-Fahdi, Samiya] Sultan Qaboos Univ, Dept Family Med & Publ Hlth, Coll Med & Hlth Sci, Al Khoud 123, Oman.
[Waly, Mostafa I.] Sultan Qaboos Univ, Dept Nutr & Food Sci, Coll Agr & Marine Sci, Muscat, Oman.
[Waly, Mostafa I.] Univ Alexandria, Dept Nutr, High Inst Publ Hlth, Alexandria, Egypt.
[Al-Sharbati, Marwan M.; Al-Adawi, Samir] Sultan Qaboos Univ, Dept Behav Med, Coll Med & Hlth Sci, Muscat, Oman.
[Ouhtit, Allal] Sultan Qaboos Univ, Dept Genet, Coll Med & Hlth Sci, Muscat, Oman.
[Al-Khaduri, Maha] Sultan Qaboos Univ, Dept Obstet & Gynecol, Coll Med & Hlth Sci, Muscat, Oman.
RP Al-Farsi, YM (reprint author), Sultan Qaboos Univ, Dept Family Med & Publ Hlth, Coll Med & Hlth Sci, POB 35, Al Khoud 123, Oman.
EM ymfarsi@squ.edu.om
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NR 43
TC 2
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAY
PY 2013
VL 43
IS 5
BP 1214
EP 1221
DI 10.1007/s10803-012-1667-9
PG 8
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800020
PM 23001768
ER
PT J
AU Sachse, M
Schlitt, S
Hainz, D
Ciaramidaro, A
Schirman, S
Walter, H
Poustka, F
Bolte, S
Freitag, CM
AF Sachse, Michael
Schlitt, Sabine
Hainz, Daniela
Ciaramidaro, Angela
Schirman, Shella
Walter, Henrik
Poustka, Fritz
Bolte, Sven
Freitag, Christine M.
TI Executive and Visuo-motor Function in Adolescents and Adults with Autism
Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Executive functions; Reaction time; Movement time; Information
processing; CANTAB
ID SPATIAL WORKING-MEMORY; OBSESSIVE-COMPULSIVE DISORDER; CARD SORTING
TEST; ASPERGER-SYNDROME; COGNITIVE INFLEXIBILITY; INHIBITORY CONTROL;
CENTRAL COHERENCE; CHILDREN; PERFORMANCE; MOVEMENT
AB This study broadly examines executive (EF) and visuo-motor function in 30 adolescent and adult individuals with high-functioning autism spectrum disorder (ASD) in comparison to 28 controls matched for age, gender, and IQ. ASD individuals showed impaired spatial working memory, whereas planning, cognitive flexibility, and inhibition were spared. Pure movement execution during visuo-motor information processing also was intact. In contrast, execution time of reading, naming, and of visuo-motor information processing tasks including a choice component was increased in the ASD group. Results of this study are in line with previous studies reporting only minimal EF difficulties in older individuals with ASD when assessed by computerized tasks. The finding of impaired visuo-motor information processing should be accounted for in further neuropsychological studies in ASD.
C1 [Sachse, Michael; Schlitt, Sabine; Hainz, Daniela; Ciaramidaro, Angela; Schirman, Shella; Poustka, Fritz; Bolte, Sven; Freitag, Christine M.] Univ Frankfurt Main, Dept Child & Adolescent Psychiat, D-60528 Frankfurt, Germany.
[Walter, Henrik] Univ Frankfurt Main, Dept Psychiat Psychosomat & Psychotherapy, D-60528 Frankfurt, Germany.
RP Freitag, CM (reprint author), Univ Frankfurt Main, Dept Child & Adolescent Psychiat, Deutschordenstr 50, D-60528 Frankfurt, Germany.
EM Michael.Sachse@kgu.de; Sabine.Schlitt@kgu.de; Daniela.Hainz@kgu.de;
Angela.Ciaramidaro@kgu.de; Schirman@em.uni-frankfurt.de;
Henrik.Walter@charite.de; poustka@em.uni-frankfurt.de; sven.bolte@ki.se;
C.Freitag@em.uni-frankfurt.de
RI Walter, Henrik/O-2612-2013
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World Health Organisation, 1992, ICD 10 CLASS MENT BE
Zinke K, 2010, CHILD NEUROPSYCHOL, V16, P229, DOI 10.1080/09297040903559648
NR 88
TC 8
Z9 8
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAY
PY 2013
VL 43
IS 5
BP 1222
EP 1235
DI 10.1007/s10803-012-1668-8
PG 14
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800021
PM 23011252
ER
PT J
AU Mazefsky, CA
McPartland, JC
Gastgeb, HZ
Minshew, NJ
AF Mazefsky, C. A.
McPartland, J. C.
Gastgeb, H. Z.
Minshew, N. J.
TI Brief Report: Comparability of DSM-IV and DSM-5 ASD Research Samples
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Diagnosis; Assessment; DSM-5; Autism Diagnostic Observation
Schedule (ADOS); Autism Diagnostic Interview (ADI)
ID AUTISM SPECTRUM DISORDERS; DIAGNOSTIC INTERVIEW; CRITERIA; CHILDREN
AB Diagnostic and Statistical Manual (DSM-5) criteria for ASD have been criticized for being too restrictive, especially for more cognitively-able individuals. It is unclear, however, if high-functioning individuals deemed eligible for research via standardized diagnostic assessments would meet DSM-5 criteria. This study investigated the impact of DSM-5 on the diagnostic status of 498 high-functioning participants with ASD research diagnoses. The percent of participants satisfying all DSM-5-requirements varied significantly with reliance on data from the Autism Diagnostic Observation Schedule (ADOS; 33 %) versus Autism Diagnostic Interview-Revised (ADI-R; 83 %), highlighting the impact of diagnostic methodology on ability to document DSM-5 symptoms. Utilizing combined ADOS/ADI-R data, 93 % of participants met DSM-5 criteria, which suggests likely continuity between DSM-IV and DSM-5 research samples characterized with these instruments in combination.
C1 [Mazefsky, C. A.; Gastgeb, H. Z.; Minshew, N. J.] Univ Pittsburgh, Dept Psychiat, Pittsburgh, PA 15213 USA.
[McPartland, J. C.] Yale Univ, Yale Child Study Ctr, New Haven, CT USA.
[Minshew, N. J.] Univ Pittsburgh, Dept Neurol, Pittsburgh, PA 15213 USA.
RP Mazefsky, CA (reprint author), Univ Pittsburgh, Dept Psychiat, Webster Hall,Suite 300,3811 OHara St, Pittsburgh, PA 15213 USA.
EM mazefskyca@upmc.edu
CR American Psychiatric Association, 2012, PROP REV DS IN PRESS
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 22
TC 10
Z9 10
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAY
PY 2013
VL 43
IS 5
BP 1236
EP 1242
DI 10.1007/s10803-012-1665-y
PG 7
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800022
PM 23011251
ER
PT J
AU Douglas, JF
Sanders, KB
Benneyworth, MH
Smith, JL
DeJean, VM
McGrew, SG
Veenstra-VanderWeele, J
AF Douglas, Jessica F.
Sanders, Kevin B.
Benneyworth, M. Hannah
Smith, Jessica L.
DeJean, Virginia M.
McGrew, Susan G.
Veenstra-VanderWeele, Jeremy
TI Brief Report: Retrospective Case Series of Oxcarbazepine for
Irritability/Agitation Symptoms in Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Antiepileptic; Anticonvulsant; Mood stabilizer; Sodium channel;
Pervasive developmental disorder
ID PERVASIVE DEVELOPMENTAL DISORDERS; PLACEBO-CONTROLLED TRIAL;
DOUBLE-BLIND; PSYCHOACTIVE MEDICINES; PSYCHIATRIC-DISORDERS;
ANTIEPILEPTIC DRUGS; BIPOLAR DISORDER; CHILDREN; ADOLESCENTS;
CARBAMAZEPINE
AB We examined response to oxcarbazepine prescribed for irritability/agitation symptoms in a retrospective case series of 30 patients with Autism Spectrum Disorder (ASD). The average patient was 12.0 years old (range 5-21) and taking two other psychotropic medications (range 0-4). Fourteen patients (47 %) had a clinical global impression of improvement score of 'much improved' during treatment. Ten patients (33 %) showed an improvement on their clinical global impression of severity score. Seven patients (23 %) had a clinically significant adverse event or side effect leading to oxcarbazepine discontinuation. Without a placebo group, it is not possible to evaluate whether oxcarbazepine provides benefit for irritability/agitation symptoms in ASD. The high rate of adverse events suggests its use should be accompanied by caution.
C1 [Douglas, Jessica F.; Sanders, Kevin B.; Benneyworth, M. Hannah; Smith, Jessica L.; DeJean, Virginia M.; Veenstra-VanderWeele, Jeremy] Vanderbilt Univ, Med Ctr, Dept Psychiat, Nashville, TN 37232 USA.
[Sanders, Kevin B.; McGrew, Susan G.; Veenstra-VanderWeele, Jeremy] Vanderbilt Univ, Med Ctr, Dept Pediat, Nashville, TN 37232 USA.
RP Veenstra-VanderWeele, J (reprint author), 7158 MRB 3,465 21st Ave S, Nashville, TN 37232 USA.
EM j.vvw@vanderbilt.edu
CR Aman MG, 2003, J AUTISM DEV DISORD, V33, P527, DOI 10.1023/A:1025883612879
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Autism and Developmental Disabilities Monitoring Network Surveillance Year 2002 Principal Investigators, 2007, MMWR SURVEILL SUMM, V56, P12
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NR 37
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAY
PY 2013
VL 43
IS 5
BP 1243
EP 1247
DI 10.1007/s10803-012-1661-2
PG 5
WC Psychology, Developmental
SC Psychology
GA 122YX
UT WOS:000317355800023
PM 22976374
ER
PT J
AU Simonoff, E
Taylor, E
Baird, G
Bernard, S
Chadwick, O
Liang, H
Whitwell, S
Riemer, K
Sharma, K
Sharma, SP
Wood, N
Kelly, J
Golaszewski, A
Kennedy, J
Rodney, L
West, N
Walwyn, R
Jichi, F
AF Simonoff, Emily
Taylor, Eric
Baird, Gillian
Bernard, Sarah
Chadwick, Oliver
Liang, Holan
Whitwell, Susannah
Riemer, Kirsten
Sharma, Kishan
Sharma, Santvana Pandey
Wood, Nicky
Kelly, Joanna
Golaszewski, Ania
Kennedy, Juliet
Rodney, Lydia
West, Nicole
Walwyn, Rebecca
Jichi, Fatima
TI Randomized controlled double-blind trial of optimal dose methylphenidate
in children and adolescents with severe attention deficit hyperactivity
disorder and intellectual disability
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Attention deficit disorder with hyperactivity; Randomized controlled
trial; autism; mental retardation; intellectual disability;
methylphenidate; stimulants
ID MENTAL-RETARDATION; DEFICIT/HYPERACTIVITY DISORDER; ADHD; SYMPTOMS;
EFFICACY
AB Background: Attention deficit hyperactivity disorder is increased in children with intellectual disability. Previous research has suggested stimulants are less effective than in typically developing children but no studies have titrated medication for individual optimal dosing or tested the effects for longer than 4weeks. Method: One hundred and twenty two drug-free children aged 715 with hyperkinetic disorder and IQ 3069 were recruited to a double-blind, placebo-controlled trial that randomized participants using minimization by probability, stratified by referral source and IQ level in a one to one ratio. Methylphenidate was compared with placebo. Dose titration comprised at least 1week each of low (0.5mg/kg/day), medium (1.0mg/kg/day) and high dose (1.5mg/kg/day). Parent and teacher Attention deficit hyperactivity disorder (ADHD) index of the Conners Rating Scale-Short Version at 16weeks provided the primary outcome measures. Clinical response was determined with the Clinical Global Impressions scale (CGI-I). Adverse effects were evaluated by a parent-rated questionnaire, weight, pulse and blood pressure. Analyses were by intention to treat. Trial registration: ISRCTN 68384912. Results: Methylphenidate was superior to placebo with effect sizes of 0.39 [95% confidence intervals (CIs) 0.09, 0.70] and 0.52 (95% CIs 0.23, 0.82) for the parent and teacher Conners ADHD index. Four (7%) children on placebo versus 24 (40%) of those on methylphenidate were judged improved or much improved on the CGI. IQ and autistic symptoms did not affect treatment efficacy. Active medication was associated with sleep difficulty, loss of appetite and weight loss but there were no significant differences in pulse or blood pressure. Conclusions: Optimal dosing of methylphenidate is practical and effective in some children with hyperkinetic disorder and intellectual disability. Adverse effects typical of methylphenidate were seen and medication use may require close monitoring in this vulnerable group.
C1 [Simonoff, Emily; Taylor, Eric; Chadwick, Oliver; Liang, Holan; Whitwell, Susannah; Riemer, Kirsten; Sharma, Kishan; Sharma, Santvana Pandey; Wood, Nicky; Golaszewski, Ania; Kennedy, Juliet; Rodney, Lydia; West, Nicole] Kings Coll London, Inst Psychiat, Dept Child & Adolescent Psychiat, London SE5 8AF, England.
[Baird, Gillian] Guys & St Thomas NHS Fdn Trust, London, England.
[Bernard, Sarah] South London & Maudsley NHS Fdn Trust, London, England.
[Kelly, Joanna; Walwyn, Rebecca; Jichi, Fatima] Kings Coll London, Inst Psychiat, Dept Biostat, London SE5 8AF, England.
RP Simonoff, E (reprint author), Kings Coll London, Inst Psychiat, Dept Child & Adolescent Psychiat, DeCrespigny Pk, London SE5 8AF, England.
EM emily.simonoff@kcl.ac.uk
FU Health Foundation [1978]; King's College
FX The work was funded by The Health Foundation, formerly the PPP
Foundation, reference number 1978, and sponsored by King's College. The
independent Trial Steering Committee comprised Professor Patricia Howlin
(Chair 2004-2005), Professor Chris Oliver (Chair 2005-2008), Professor
Jeremy Turk, Dr Frank Besag (2006-2008), Mr Brian McGinnis (representing
carer views 2004-2006), Dr Michael Fitzpatrick (representing carer views
2006-2008) and Dr Gill Dale (representing the Sponsor). The independent
Data Monitoring Committee comprised Dr Ruth Pickering (Chair), Dr David
Coghill and Dr Claire Sturge. The Mental Health and Neurosciences
Clinical Trials Unit, King's College London undertook randomization,
database development and assisted with project management. Clare
Rutterford contributed to the development of the statistical analysis
plan, data oversight and initial analyses. Professor Andrew Pickles
supervised the statistical analyses for this paper. We thank all the
doctors who referred participants to the trial and the participants and
their families. None of the authors of the manuscript has any conflict
of interest, including specific financial interests, relationships or
affiliations relevant to the subject of the manuscript.
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Wechsler D, 2004, WECHSLER PRESCHOOL P, V3rd
NR 28
TC 11
Z9 11
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9630
J9 J CHILD PSYCHOL PSYC
JI J. Child Psychol. Psychiatry
PD MAY
PY 2013
VL 54
IS 5
BP 527
EP 535
DI 10.1111/j.1469-7610.2012.02569.x
PG 9
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA 127EN
UT WOS:000317679500005
PM 22676856
ER
PT J
AU Guthrie, W
Swineford, LB
Nottke, C
Wetherby, AM
AF Guthrie, Whitney
Swineford, Lauren B.
Nottke, Charly
Wetherby, Amy M.
TI Early diagnosis of autism spectrum disorder: stability and change in
clinical diagnosis and symptom presentation
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Autism spectrum disorder; developmental delay; diagnosis; development;
assessment
ID OBSERVATION SCHEDULE; 2ND YEAR; CHILDREN; AGE; LIFE
AB Background: Although a diagnosis of autism spectrum disorder (ASD) appears to be stable in children as young as age three, few studies have explored stability of a diagnosis in younger children. Predictive value of diagnostic tools for toddlers and patterns of symptom change are important considerations for clinicians making early diagnoses. Most findings come from high-risk samples, but reports on children screened in community settings are also needed. Methods: Stability of diagnosis and Autism Diagnostic Observation Schedule Toddler Module (ADOS-T) classifications and scores was examined across two time points in a sample of 82 children identified through the FIRST WORDS (R) Project. Children received two comprehensive diagnostic evaluations at average ages of 19.39 (SD=2.12) and 36.89 (SD=3.85)months. Results: Stability was 100% when confirming and ruling out a diagnosis of ASD based on a comprehensive diagnostic evaluation that included clinic and home observations, although diagnosis was initially deferred for 17% of the sample. Receiver Operating Characteristic curves revealed excellent sensitivity and acceptable specificity for the ADOS-T compared to concurrent diagnosis. Logistic regressions indicated good predictive value of initial ADOS-T scores for follow-up diagnosis. Finally, both ASD and Non-ASD children demonstrated a decrease in Social Affect scores (i.e., improvement), whereas children with ASD demonstrated an increase in Restricted and Repetitive Behavior scores (i.e., worsening), changes that were accounted for by nonverbal developmental level in mixed model analyses. Conclusions: Short-term stability was documented for children diagnosed at 19months on average, although a minority of children initially showed unclear diagnostic presentations. Findings highlight utility of the ADOS-T in making early diagnoses and predicting follow-up diagnoses. Children with ASD demonstrated improvement in social communication behaviors and unfolding of repetitive behaviors, suggesting that certain early patterns of change in symptoms may be characteristic of ASD.
C1 [Guthrie, Whitney; Swineford, Lauren B.; Nottke, Charly; Wetherby, Amy M.] Florida State Univ, Autism Inst, Coll Med, Tallahassee, FL 32303 USA.
RP Guthrie, W (reprint author), Florida State Univ, Autism Inst, 1940 North Monroe St,Suite 72, Tallahassee, FL 32303 USA.
EM whitney.guth-rie@med.fsu.edu
FU NICHD [R01HD065272]; NIDCD [R01DC007462]; CDC [U01DD000304]
FX This research was supported in part by NICHD R01HD065272, NIDCD
R01DC007462, and CDC U01DD000304 awarded to Amy M. Wetherby. The content
is solely the responsibility of the authors and does not necessarily
represent the official views of the NICHD, NIDCD, the NIH, or the CDC.
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NR 33
TC 11
Z9 11
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9630
J9 J CHILD PSYCHOL PSYC
JI J. Child Psychol. Psychiatry
PD MAY
PY 2013
VL 54
IS 5
BP 582
EP 590
DI 10.1111/jcpp.12008
PG 9
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA 127EN
UT WOS:000317679500011
PM 23078094
ER
PT J
AU Richman, DM
Barnard-Brak, L
Bosch, A
Thompson, S
Grubb, L
Abby, L
AF Richman, D. M.
Barnard-Brak, L.
Bosch, A.
Thompson, S.
Grubb, L.
Abby, L.
TI Predictors of self-injurious behaviour exhibited by individuals with
autism spectrum disorder
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Article
DE autism spectrum disorder; impulsivity; intellectual and developmental
disabilities; negative affect; self-injurious behaviour; stereotypy
ID INTELLECTUAL DISABILITIES; CHALLENGING BEHAVIORS; YOUNG-CHILDREN;
REPETITIVE BEHAVIOR; FUNCTIONAL-ANALYSIS; EXECUTIVE FUNCTIONS;
MENTAL-RETARDATION; RISK MARKERS; MISSING DATA; PREVALENCE
AB Background Presence of an autism spectrum disorder is a risk factor for development of self-injurious behaviour (SIB) exhibited by individuals with developmental disorders. The most salient SIB risk factors historically studied within developmental disorders are level of intellectual disability, communication deficits and presence of specific genetic disorders. Recent SIB research has expanded the search for risk factors to include less commonly studied variables for people with developmental disorders: negative affect, hyperactivity and impulsivity. Method A heterogeneous sample of 617 individuals with autism spectrum disorder diagnoses was derived from the National Database of Autism Research. Latent constructs were estimated from items of the community version of the Aberrant Behaviour Checklist. Structural equation modelling was used to assess whether impulsivity, hyperactivity, negative affect, severity of stereotypy, intellectual functioning or severity of autism symptoms predicted severity of SIB. Results Impulsivity (=0.46), followed by intellectual functioning (=0.39), and stereotypy (=0.23) were the variables most highly predictive of increased SIB; impulsivity and stereotypy remained significant predictors of SIB after severity of autism symptoms and intelligence quotient (IQ) were controlled for. Conclusions High levels of impulsivity and stereotypy were significant predictors of SIB in a large and diverse sample of people with confirmed autism diagnoses. Future research is needed on the effects of reducing impulsivity and stereotypy on the outcomes of treatment, early intervention and attempts to prevent the development of SIB.
C1 [Richman, D. M.; Barnard-Brak, L.; Bosch, A.; Thompson, S.; Grubb, L.; Abby, L.] Texas Tech Univ, Burkhart Ctr Autism Educ & Res, Lubbock, TX 79409 USA.
RP Richman, DM (reprint author), Texas Tech Univ, Burkhart Ctr Autism Educ & Res, 3008 18th St,Room 113,TTU Mailstop 1071, Lubbock, TX 79409 USA.
EM d.richman@ttu.edu
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NR 48
TC 8
Z9 8
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD MAY
PY 2013
VL 57
IS 5
BP 429
EP 439
DI 10.1111/j.1365-2788.2012.01628.x
PG 11
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA 123AY
UT WOS:000317361600004
PM 22998594
ER
PT J
AU Lin, E
Balogh, R
Cobigo, V
Ouellette-Kuntz, H
Wilton, AS
Lunsky, Y
AF Lin, E.
Balogh, R.
Cobigo, V.
Ouellette-Kuntz, H.
Wilton, A. S.
Lunsky, Y.
TI Using administrative health data to identify individuals with
intellectual and developmental disabilities: a comparison of algorithms
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Article
DE administrative data; cohort algorithms; intellectual disability;
standardised differences; surveillance
ID AUTISM SPECTRUM DISORDERS; MENTAL-RETARDATION; RISK-FACTORS; PREVALENCE;
ONTARIO; EPIDEMIOLOGY; SURVEILLANCE; SERVICES; CHILDREN; ADULTS
AB Background Individuals with intellectual and developmental disabilities (IDD) experience high rates of physical and mental health problems; yet their health care is often inadequate. Information about their characteristics and health services needs is critical for planning efficient and equitable services. A logical source of such information is administrative health data; however, it can be difficult to identify cases with IDD in these data. The purpose of this study is to evaluate three algorithms for case finding of IDD in health administrative data. Methods The three algorithms were created following existing approaches in the literature which ranged between maximising sensitivity versus balancing sensitivity and specificity. The algorithm required only one IDD service contact across all available data and time periods, the algorithm added the restriction of a minimum of two physician visits while the algorithm added a further restriction that the time period be limited to 2006 onward. The resulting three cohorts were compared according to socio-demographic and clinical characteristics. Comparisons on different subgroups for a hypothetical population of 50000 individuals with IDD were also carried out: this information may be relevant for planning specialised treatment or support programmes. Results The prevalence rates of IDD per 100 were 0.80, 0.52 and 0.18 for the , and algorithms, respectively. Except for percentage with psychiatric co-morbidity', the three cohorts had similar characteristics (standardised differences<0.1). More stringent thresholds increased the percentage of psychiatric co-morbidity and decreased the percentages of women and urban residents in the identified cohorts (standardised differences=0.12 to 0.46). More concretely, using the algorithm to indirectly estimate the number of individuals with IDD, a practice not uncommon in planning and policy development, classified nearly 7000 more individuals with psychiatric co-morbidities than using the algorithm. Conclusions The prevalence rate produced by the algorithm most closely approximated the reported literature rate suggesting the value of imposing a two-physician visit minimum but not restricting the time period covered. While the statistical differences among the algorithms were generally minor, differences in the numbers of individuals in specific population subgroups may be important particularly if they have specific service needs. Health administrative data can be useful for broad-based service planning for individuals with IDD and for population level comparisons around their access and quality of care.
C1 [Lin, E.] Ctr Addict & Mental Hlth, Prov Syst Support Program, Toronto, ON M5S 2S1, Canada.
[Balogh, R.] Univ Ontario, Inst Technol, Oshawa, ON, Canada.
[Cobigo, V.] Univ E Anglia, Sch Nursing Sci, Norwich NR4 7TJ, Norfolk, England.
[Ouellette-Kuntz, H.] Queens Univ, Kingston, ON, Canada.
[Wilton, A. S.] Inst Clin Evaluat Sci, Toronto, ON, Canada.
[Lunsky, Y.] Ctr Addict & Mental Hlth, Dual Diag Program, Toronto, ON M5S 2S1, Canada.
RP Lin, E (reprint author), Ctr Addict & Mental Hlth, Prov Syst Support Program, Room T314,33 Russell St, Toronto, ON M5S 2S1, Canada.
EM elizabethbetty.lin@camh.ca
CR Adams E., 2009, DISABILITY PUBLIC HL, P105
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NR 63
TC 7
Z9 7
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD MAY
PY 2013
VL 57
IS 5
BP 462
EP 477
DI 10.1111/jir.12002
PG 16
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA 123AY
UT WOS:000317361600007
PM 23116328
ER
PT J
AU Grant, R
Nozyce, M
AF Grant, Roy
Nozyce, Molly
TI Proposed Changes to the American Psychiatric Association Diagnostic
Criteria for Autism Spectrum Disorder: Implications for Young Children
and Their Families
SO MATERNAL AND CHILD HEALTH JOURNAL
LA English
DT Article
DE Autism; Asperger's Disorder; Pervasive Developmental Disorder; Early
childhood; Psychiatric diagnosis
ID PERVASIVE DEVELOPMENTAL DISORDERS; EARLY INTERVENTION;
ASPERGER-SYNDROME; OUTCOMES; DSM-5; IDENTIFICATION; STABILITY; PROGRAMS;
TODDLERS; BEHAVIOR
AB The American Psychiatric Association has revised the diagnostic criteria for their DSM-5 manual. Important changes have been made to the diagnosis of the current (DSM-IV) category of Pervasive Developmental Disorders. This category includes Autistic Disorder (autism), Asperger's Disorder, and Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS). The DSM-5 deletes Asperger's Disorder and PDD-NOS as diagnostic entities. This change may have unintended consequences, including the possibility that the new diagnostic framework will adversely affect access to developmental interventions under Individuals with Disabilities Education Act (IDEA) programs, Early Intervention (for birth to 2 years olds) and preschool special education (for 3 and 4 years olds). Changing the current diagnosis of PDD-NOS to a "Social Communication Disorder" focused on language pragmatics in the DSM-5 may restrict eligibility for IDEA programs and limit the scope of services for affected children. Young children who meet current criteria for PDD-NOS require more intensive and multi-disciplinary services than would be available with a communication domain diagnosis and possible service authorization limited to speech-language therapy. Intensive behavioral interventions, inclusive group setting placements, and family support services are typically more available for children with an autism spectrum disorder than with diagnoses reflecting speech-language delay. The diagnostic distinction reflective of the higher language and social functioning between Asperger's Disorder and autism is also undermined by eliminating the former as a categorical diagnosis and subsuming it under autism. This change may adversely affect treatment planning and misinform parents about prognosis for children who meet current criteria for Asperger's Disorder.
C1 [Grant, Roy] Childrens Hlth Fund, New York, NY 10027 USA.
[Nozyce, Molly] Albert Einstein Coll Med, Jacobi Med Ctr, Div Dev Pediat, Bronx, NY 10467 USA.
RP Grant, R (reprint author), Childrens Hlth Fund, 215 West 125th St,Suite 301, New York, NY 10027 USA.
EM rgrant@chfund.org; molly.nozyce@nbhn.net
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NR 54
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1092-7875
J9 MATERN CHILD HLTH J
JI Matern. Child Health J.
PD MAY
PY 2013
VL 17
IS 4
BP 586
EP 592
DI 10.1007/s10995-013-1250-9
PG 7
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA 126IS
UT WOS:000317608200003
PM 23456348
ER
PT J
AU Millan, MJ
AF Millan, Mark J.
TI An epigenetic framework for neurodevelopmental disorders: From
pathogenesis to potential therapy
SO NEUROPHARMACOLOGY
LA English
DT Review
DE Epigenopathy; Histone; Chromatin; Methylation; Acetylation; MiRNA;
SnoRNA; Noncoding RNA; Autism; Schizophrenia
ID FRAGILE-X-SYNDROME; AUTISM SPECTRUM DISORDERS; PRADER-WILLI-SYNDROME;
LINKED MENTAL-RETARDATION; LONG-TERM-MEMORY; HISTONE DEACETYLASE
INHIBITORS; RUBINSTEIN-TAYBI-SYNDROME; TUBEROUS SCLEROSIS COMPLEX;
ACTIVE DNA DEMETHYLATION; PLURIPOTENT STEM-CELLS
AB Neurodevelopmental disorders (NDDs) are characterized by aberrant and delayed early-life development of the brain, leading to deficits in language, cognition, motor behaviour and other functional domains, often accompanied by somatic symptoms. Environmental factors like perinatal infection, malnutrition and trauma can increase the risk of the heterogeneous, multifactorial and polygenic disorders, autism and schizophrenia. Conversely, discrete genetic anomalies are involved in Down, Rett and Fragile X syndromes, tuberous sclerosis and neurofibromatosis, the less familiar Phelan-McDermid, Sotos, Kleefstra, Coffin-Lowry and "ATRX" syndromes, and the disorders of imprinting, Angelman and Prader-Willi syndromes. NDDs have been termed "synaptopathies" in reference to structural and functional disturbance of synaptic plasticity, several involve abnormal Ras-Kinase signalling ("rasopathies"), and many are characterized by disrupted cerebral connectivity and an imbalance between excitatory and inhibitory transmission. However, at a different level of integration, NDDs are accompanied by aberrant "epigenetic" regulation of processes critical for normal and orderly development of the brain. Epigenetics refers to potentially-heritable (by mitosis and/or meiosis) mechanisms controlling gene expression without changes in DNA sequence. In certain NDDs, prototypical epigenetic processes of DNA methylation and covalent histone marking are impacted. Conversely, others involve anomalies in chromatin-modelling, mRNA splicing/editing, mRNA translation, ribosome biogenesis and/or the regulatory actions of small nucleolar RNAs and micro-RNAs. Since epigenetic mechanisms are modifiable, this raises the hope of novel therapy, though questions remain concerning efficacy and safety. The above issues are critically surveyed in this review, which advocates a broad-based epigenetic framework for understanding and ultimately treating a diverse assemblage of NDDs ("epigenopathies") lying at the interface of genetic, developmental and environmental processes.
This article is part of the Special Issue entitled 'Neurodevelopmental Disorders'. (c) 2012 Elsevier Ltd. All rights reserved.
C1 IDR Servier, Unit Res & Discover Neurosci, F-78290 Paris, France.
RP Millan, MJ (reprint author), IDR Servier, Unit Res & Discover Neurosci, 125 Chemin Ronde, F-78290 Paris, France.
EM mark.millan@fr.netgrs.com
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NR 1084
TC 37
Z9 38
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 MAY
PY 2013
VL 68
SI SI
BP 2
EP 82
DI 10.1016/j.neuropharm.2012.11.015
PG 81
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA 123EL
UT WOS:000317371100002
PM 23246909
ER
PT J
AU Wijetunge, LS
Chattarji, S
Wyllie, DJA
Kind, PC
AF Wijetunge, Lasani S.
Chattarji, Sumantra
Wyllie, David J. A.
Kind, Peter C.
TI Fragile X syndrome: From targets to treatments
SO NEUROPHARMACOLOGY
LA English
DT Review
DE Neurodevelopmental disorders; Fragile X Syndrome; Autism spectrum
disorder; Intellectual disability
ID MENTAL-RETARDATION PROTEIN; METABOTROPIC GLUTAMATE RECEPTORS; LONG-TERM
DEPRESSION; FMR1 KNOCKOUT MICE; PRIMARY SOMATOSENSORY CORTEX; MOUSE
MODEL; FULL MUTATION; DENDRITIC SPINES; CGG-REPEAT; MINOCYCLINE
TREATMENT
AB Fragile X syndrome (FXS) is one of the most prevalent and well-studied monogenetic causes of intellectual disability and autism and, although rare, its high penetrance makes it a desirable model for the study of neurodevelopmental disorders more generally. Indeed recent studies suggest that there is functional convergence of a number of genes that are implicated in intellectual disability and autism indicating that an understanding of the cellular and biochemical dysfunction that occurs in monogenic forms of these disorders are likely to reveal common targets for therapeutic intervention. Fundamental research into FXS has provided a wealth of information about how the loss of function of the fragile X mental retardation protein results in biochemical, anatomical and physiological dysfunction leading to the discovery of interventions that correct many of the core pathological phenotypes associated with animal models of FXS. Most promisingly such strategies have led to development of drugs that are now in clinical trials. This review highlights how progress in understanding disorders such as FXS has led to a new era in which targeted molecular treatment towards neurodevelopmental disorders is becoming a reality.
This article is part of the Special Issue entitled 'Neurodevelopmental Disorders'. (c) 2012 Elsevier Ltd. All rights reserved.
C1 [Wijetunge, Lasani S.; Wyllie, David J. A.; Kind, Peter C.] Univ Edinburgh, Ctr Integrat Physiol, Patrick Wild Ctr, Edinburgh EH8 9XD, Midlothian, Scotland.
[Chattarji, Sumantra] Tata Inst Fundamental Res, Natl Ctr Biol Sci, Bangalore, Karnataka, India.
[Chattarji, Sumantra] Inst Stem Cell Biol & Regenerat Med, Ctr Neurodev Synaptopathies, Bangalore, Karnataka, India.
RP Kind, PC (reprint author), Univ Edinburgh, Ctr Integrat Physiol, Patrick Wild Ctr, Hugh Robson Bldg,George Sq, Edinburgh EH8 9XD, Midlothian, Scotland.
EM pkind@ed.ac.uk
FU Patrick Wild Centre; Medical Research Council UK
FX We would like to thank Dr Emily Osterweil and Dr. Andrew Stanfield along
with the anonymous reviewers for their helpful comments. We would also
like to thank Professor Randi Hagerman and Dr. Mary Jacena S. Leigh for
sharing their data from the minocycline trials. We acknowledge the
support from the Patrick Wild Centre and the Medical Research Council
UK. We would also like to thank Dr. Gus Alusi and Reem Waines for their
continued support and helpful insights into living with FXS.
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Zoghbi H.Y., 2012, COLD SPRING HARB PER, V4
NR 167
TC 13
Z9 14
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3908
J9 NEUROPHARMACOLOGY
JI Neuropharmacology
PD MAY
PY 2013
VL 68
SI SI
BP 83
EP 96
DI 10.1016/j.neuropharm.2012.11.028
PG 14
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA 123EL
UT WOS:000317371100003
PM 23257237
ER
PT J
AU Ehninger, D
AF Ehninger, Dan
TI From genes to cognition in tuberous sclerosis: Implications for mTOR
inhibitor-based treatment approaches
SO NEUROPHARMACOLOGY
LA English
DT Review
DE Tuberous sclerosis; TSC; mTOR; Rapamycin; Autism; Cognition; Epilepsy
ID AUTISM SPECTRUM DISORDERS; TERM SYNAPTIC PLASTICITY; FRAGILE-X-SYNDROME;
MOUSE MODEL; MAMMALIAN TARGET; SIGNALING PATHWAY; CELL-GROWTH;
TRANSLATIONAL CONTROL; PROTEIN-SYNTHESIS; RAPAMYCIN MTOR
AB Tuberous sclerosis (TSC) is a neurocutaneous disorder with an autosomal-dominant pattern of inheritance and is caused by heterozygous mutations in the TSC1 or TSC2 gene. Neuropsychiatric conditions, including intellectual disability, autism and epilepsy, are highly prevalent in TSC populations. Here, I review recent findings that shed light on some of the neurobiological mechanisms that may contribute to the pathogenesis of TSC-associated neuropsychiatric impairments. Emerging intervention studies in animal models show striking effects of mTORC1 inhibitors on TSC-related CNS manifestations. Translational studies that assess the effects of mTORC1 inhibitors on neuropsychiatric phenotypes in human TSC individuals are underway.
This article is part of the Special Issue entitled 'Neurodevelopmental Disorders'. (c) 2012 Elsevier Ltd. All rights reserved.
C1 DZNE, German Ctr Neurodegenerat Dis, D-53175 Bonn, Germany.
RP Ehninger, D (reprint author), DZNE, German Ctr Neurodegenerat Dis, Ludwig Erhard Allee 2, D-53175 Bonn, Germany.
EM Dan.Ehninger@dzne.de
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NR 152
TC 16
Z9 17
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3908
J9 NEUROPHARMACOLOGY
JI Neuropharmacology
PD MAY
PY 2013
VL 68
SI SI
BP 97
EP 105
DI 10.1016/j.neuropharm.2012.05.015
PG 9
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA 123EL
UT WOS:000317371100004
PM 22626986
ER
PT J
AU Masino, SA
Kawamura, M
Cote, JL
Williams, RB
Ruskin, DN
AF Masino, Susan A.
Kawamura, Masahito, Jr.
Cote, Jessica L.
Williams, Rebecca B.
Ruskin, David N.
TI Adenosine and autism: A spectrum of opportunities
SO NEUROPHARMACOLOGY
LA English
DT Review
DE Adenosine; Anxiety; Autism; ATP; Ketogenic diet; Metabolism
ID RANDOMIZED CONTROLLED-TRIAL; PLACEBO-CONTROLLED TRIAL; KETOGENIC DIET;
DOUBLE-BLIND; REFRACTORY EPILEPSY; RECEPTOR AGONISTS; A(1) RECEPTORS;
ALLOPURINOL AUGMENTATION; CAFFEINE TREATMENT; RAT HIPPOCAMPUS
AB In rodents, insufficient adenosine produces behavioral and physiological symptoms consistent with several comorbidities of autism. In rodents and humans, stimuli postulated to increase adenosine can ameliorate these comorbidities. Because adenosine is a broad homeostatic regulator of cell function and nervous system activity, increasing adenosine's influence might be a new therapeutic target for autism with multiple beneficial effects.
This article is part of the Special Issue entitled 'Neurodevelopmental Disorders'. (c) 2012 Elsevier Ltd. All rights reserved.
C1 [Masino, Susan A.; Cote, Jessica L.; Ruskin, David N.] Trinity Coll, Neurosci Program, Life Sci Ctr, Hartford, CT 06106 USA.
[Masino, Susan A.; Williams, Rebecca B.; Ruskin, David N.] Trinity Coll, Dept Psychol, Hartford, CT 06106 USA.
[Kawamura, Masahito, Jr.] Jikei Univ, Sch Med, Dept Pharmacol, Minato Ku, Tokyo 1058461, Japan.
RP Masino, SA (reprint author), Trinity Coll, Neurosci Program, Life Sci Ctr, 300 Summit St, Hartford, CT 06106 USA.
EM susan.masino@trincoll.edu
FU National Institutes of Health from the National Institute of
Neurological Disorders and Stroke (NINDS) [NS065957, NS066932]; National
Science Foundation [IOS-0843585]
FX This work was supported by National Institutes of Health Grants NS065957
and NS066932 from the National Institute of Neurological Disorders and
Stroke (NINDS) and IOS-0843585 from the National Science Foundation.
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NR 106
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3908
J9 NEUROPHARMACOLOGY
JI Neuropharmacology
PD MAY
PY 2013
VL 68
SI SI
BP 116
EP 121
DI 10.1016/j.neuropharm.2012.08.013
PG 6
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA 123EL
UT WOS:000317371100006
PM 22940000
ER
PT J
AU Folsom, TD
Fatemi, SH
AF Folsom, Timothy D.
Fatemi, S. Hossein
TI The involvement of Reelin in neurodevelopmental disorders
SO NEUROPHARMACOLOGY
LA English
DT Review
DE Reelin; Schizophrenia; Autism; Bipolar disorder; Major depression;
Lissencephaly; Alzheimer's disease; Treatment
ID POLYMORPHIC GGC REPEAT; CAJAL-RETZIUS CELLS; CAUSES DIFFERENTIAL
EXPRESSION; DAB1 TYROSINE PHOSPHORYLATION; MENTAL-RETARDATION PROTEIN;
CORTICAL PLATE DEVELOPMENT; AUTISM SPECTRUM DISORDERS; PRENATAL IMMUNE
CHALLENGE; MESSENGER-RNA EXPRESSION; MINOR PHYSICAL ANOMALIES
AB Reelin is a glycoprotein that serves important roles both during development (regulation of neuronal migration and brain lamination) and in adulthood (maintenance of synaptic function). A number of neuropsychiatric disorders including autism, schizophrenia, bipolar disorder, major depression, Alzheimer's disease and lissencephaly share a common feature of abnormal Reelin expression in the brain. Altered Reelin expression has been hypothesized to impair neuronal connectivity and synaptic plasticity, leading ultimately to the cognitive deficits present in these disorders. The mechanisms for abnormal Reelin expression in some of these disorders are currently unknown although possible explanations include early developmental insults, mutations, hypermethylation of the promoter for the Reelin gene (RELN), miRNA silencing of Reelin mRNA, FMRP underexpression and Reelin processing abnormalities. Increasing Reelin expression through pharmacological therapies may help ameliorate symptoms resulting from Reelin deficits.
This article is part of the Special Issue entitled 'Neurodevelopmental Disorders'. (c) 2012 Elsevier Ltd. All rights reserved.
C1 [Folsom, Timothy D.; Fatemi, S. Hossein] Univ Minnesota, Sch Med, Dept Psychiat, Div Neurosci Res, Minneapolis, MN 55455 USA.
[Fatemi, S. Hossein] Univ Minnesota, Sch Med, Dept Pharmacol, Minneapolis, MN 55455 USA.
[Fatemi, S. Hossein] Univ Minnesota, Sch Med, Dept Neurosci, Minneapolis, MN 55455 USA.
RP Fatemi, SH (reprint author), Univ Minnesota, Dept Psychiat, 420 Delaware St SE,MMC 392, Minneapolis, MN 55455 USA.
EM folso013@umn.edu; fatem002@umn.edu
FU Eunice Kennedy Shriver National Institute of Child Health and Human
Development [5R01HD052074-01A2]; National Institute of Mental Health
[5R01MH086000-01A2]; Minnesota Medical Foundation Alfred and Ingrid Lenz
Harrison Initiative Fund
FX Grant support by the Eunice Kennedy Shriver National Institute of Child
Health and Human Development (5R01HD052074-01A2) and the National
Institute of Mental Health (5R01MH086000-01A2) and the Minnesota Medical
Foundation Alfred and Ingrid Lenz Harrison Initiative Fund to SHF is
gratefully acknowledged. Dr. Fatemi has several United States patents
(7341844) on the use of Reelin as a diagnostic marker in psychiatric
disorders but has not derived any financial gains from these patents.
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NR 219
TC 37
Z9 38
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3908
J9 NEUROPHARMACOLOGY
JI Neuropharmacology
PD MAY
PY 2013
VL 68
SI SI
BP 122
EP 135
DI 10.1016/j.neuropharm.2012.08.015
PG 14
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA 123EL
UT WOS:000317371100007
PM 22981949
ER
PT J
AU Gray, SJ
AF Gray, Steven James
TI Gene therapy and neurodevelopmental disorders
SO NEUROPHARMACOLOGY
LA English
DT Review
DE Gene therapy; AAV; Neurodevelopmental disorder; Rett syndrome; Angelman
syndrome; Lysosomal storage disease
ID ADENOASSOCIATED VIRUS VECTORS; LYSOSOMAL STORAGE DISEASES;
CENTRAL-NERVOUS-SYSTEM; RETT-SYNDROME; MOUSE MODEL; EFFICIENT
TRANSDUCTION; REGULATED EXPRESSION; DIRECTED EVOLUTION; ADENOVIRAL
VECTORS; ANGELMAN-SYNDROME
AB With a number of recent clinical successes, gene therapy is quickly becoming a realistic treatment option for neurological disorders. Advancements in global central nervous system (CNS) gene delivery, in particular, have accelerated to the point that treatments for neurological disorders such as lysosomal storage diseases seem within reach. Other neurodevelopmental disorders, such as Rett Syndrome, Fragile X, and autism still face significant obstacles to overcome before a viable human gene therapy can be considered. This review focuses on the most common CNS gene delivery vehicle, adeno-associated virus (AAV), and the current state of AAV vector design and delivery for CNS gene therapy. Relevant examples of gene therapy studies for neurodevelopmental disorders, as well as outstanding challenges, are discussed.
This article is part of the Special Issue entitled 'Neurodevelopmental Disorders'. (c) 2012 Elsevier Ltd. All rights reserved.
C1 Univ N Carolina, Gene Therapy Ctr, Chapel Hill, NC 27599 USA.
RP Gray, SJ (reprint author), Univ N Carolina, Gene Therapy Ctr, 7109 Thurston Bowles,104 Manning Dr, Chapel Hill, NC 27599 USA.
EM graysj@email.unc.edu
FU International Rett Syndrome Foundation; New Hope Research Foundation;
Legacy of Angels Foundation; Hannah's Hope Fund; Jasper Against Batten
FX SJG would like to acknowledge support from the International Rett
Syndrome Foundation, the New Hope Research Foundation, the Legacy of
Angels Foundation, Hannah's Hope Fund, and Jasper Against Batten.
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NR 73
TC 8
Z9 8
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3908
J9 NEUROPHARMACOLOGY
JI Neuropharmacology
PD MAY
PY 2013
VL 68
SI SI
BP 136
EP 142
DI 10.1016/j.neuropharm.2012.06.024
PG 7
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA 123EL
UT WOS:000317371100008
PM 22750077
ER
PT J
AU Mendez, MA
Horder, J
Myers, J
Coghlan, S
Stokes, P
Erritzoe, D
Howes, O
Lingford-Hughes, A
Murphy, D
Nutt, D
AF Mendez, Maria Andreina
Horder, Jamie
Myers, Jim
Coghlan, Suzanne
Stokes, Paul
Erritzoe, David
Howes, Oliver
Lingford-Hughes, Anne
Murphy, Declan
Nutt, David
TI The brain GABA-benzodiazepine receptor alpha-5 subtype in autism
spectrum disorder: A pilot [C-11]Ro15-4513 positron emission tomography
study
SO NEUROPHARMACOLOGY
LA English
DT Article
DE GABA; Autism; [C-11]Ro15-4513; GABA(A) receptor; Positron Emission
Tomography; alpha 5-selective
ID ASSOCIATION; NEURONS; ADULTS; EXCITATION/INHIBITION; DYSFUNCTION;
CHILDREN; BEHAVIOR; MARKERS; ANATOMY; GENES
AB GABA (gamma-amino-butyric-acid) is the primary inhibitory neurotransmitter in the human brain. It has been proposed that the symptoms of autism spectrum disorders (ASDs) are the result of deficient GABA neurotransmission, possibly including reduced expression of GABA(A) receptors. However, this hypothesis has not been directly tested in living adults with ASD. In this preliminary investigation, we used Positron Emission Tomography (PET) with the benzodiazepine receptor PET ligand [C-11]Ro15-4513 to measure alpha 1 and alpha 5 subtypes of the GABA(A) receptor levels in the brain of three adult males with well-characterized high-functioning ASD compared with three healthy matched volunteers. We found significantly lower [C-11]Ro15-4513 binding throughout the brain of participants with ASD (p < 0.0001) compared with controls. Planned region of interest analyses also revealed significant reductions in two limbic brain regions, namely the amygdala and nucleus accumbens bilaterally. Further analysis suggested that these results were driven by lower levels of the GABA(A) alpha 5 subtype. These results provide initial evidence of a GABA(A) alpha 5 deficit in ASD and support further investigations of the GABA system in this disorder.
This article is part of the Special Issue entitled 'Neurodevelopmental Disorders'. (c) 2012 Elsevier Ltd. All rights reserved.
C1 [Mendez, Maria Andreina; Horder, Jamie; Coghlan, Suzanne; Murphy, Declan] Kings Coll London, Dept Forens & Neurodev Sci, Inst Psychiat, London SES 8AF, England.
[Mendez, Maria Andreina; Stokes, Paul; Erritzoe, David; Lingford-Hughes, Anne; Nutt, David] Univ London Imperial Coll Sci Technol & Med, Ctr Pharmacol & Therapeut, Div Expt Med, Neuropsychopharmacol Unit, London W12 0NN, England.
[Myers, Jim] Univ Bristol, Sch Social & Community Med, Psychopharmacol Unit, Bristol BS8 2BN, Avon, England.
[Howes, Oliver] MRC Clin Sci Ctr, Psychiat Imaging Grp, London W12 0NN, England.
RP Horder, J (reprint author), Kings Coll London, Dept Forens & Neurodev Sci, Inst Psychiat, POB 50,De Crespigny Pk, London SES 8AF, England.
EM jamie.horder@kcl.ac.uk
FU National Institute for Health Research (NIHR); Biomedical Research
Centre; Medical Research Council AIMS Network; Wellcome Trust [091300];
Medical Research Council, UK grant [MC-A656-5QD30]
FX We wish to thank the volunteers for their patience and collaboration
with the study, and we are grateful for the technical support and
assistance provided by Hammersmith Imanet. This project was supported by
a program grant from National Institute for Health Research (NIHR) and
the Biomedical Research Centre. The MRI component of this project was
funded by the Medical Research Council AIMS Network and also by a grant
from the Wellcome Trust (Reference 091300). The PET scans were funded by
a Medical Research Council, UK grant to Dr Oliver Howes (Grant code:
MC-A656-5QD30).
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NR 58
TC 14
Z9 17
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3908
J9 NEUROPHARMACOLOGY
JI Neuropharmacology
PD MAY
PY 2013
VL 68
SI SI
BP 195
EP 201
DI 10.1016/j.neuropharm.2012.04.008
PG 7
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA 123EL
UT WOS:000317371100014
PM 22546616
ER
PT J
AU Enticott, PG
Kennedy, HA
Rinehart, NJ
Tonge, BJ
Bradshaw, JL
Fitzgerald, PB
AF Enticott, Peter G.
Kennedy, Hayley A.
Rinehart, Nicole J.
Tonge, Bruce J.
Bradshaw, John L.
Fitzgerald, Paul B.
TI GABAergic activity in autism spectrum disorders: An investigation of
cortical inhibition via transcranial magnetic stimulation
SO NEUROPHARMACOLOGY
LA English
DT Article
DE Autistic disorder; Asperger's disorder; Primary motor cortex;
Transcranial magnetic stimulation; GABA; Electromyography
ID HIGH-FUNCTIONING AUTISM; DORSOLATERAL PREFRONTAL CORTEX; MAJOR
DEPRESSIVE DISORDER; HUMAN MOTOR CORTEX; SILENT PERIOD; INTRACORTICAL
INHIBITION; ASPERGERS-DISORDER; TOURETTE-SYNDROME; WHITE-MATTER; TMS-EEG
AB Mounting evidence suggests a possible role for gamma-aminobutyric acid (GABA) in the neuropathophysiology of autism spectrum disorders (ASD), but the extent of this impairment is unclear. A non-invasive, in vivo measure of GABA involves transcranial magnetic stimulation (TMS) of the primary motor cortex to probe cortical inhibition. Individuals diagnosed with ASD (high-functioning autism or Asperger's disorder) (n = 36 [28 male); mean age: 26.00 years) and a group of healthy individuals (n = 34 [23 male]; mean age: 26.21 years) (matched for age, gender, and cognitive function) were administered motor cortical TMS paradigms putatively measuring activity at GABA(A) and GABA(B) receptors (i.e., short and long interval paired pulse TMS, cortical silent period). All cortical inhibition paradigms yielded no difference between ASD and control groups. There was, however, evidence for short interval cortical inhibition (SICI) deficits among those ASD participants who had experienced early language delay, suggesting that GABA may be implicated in an ASD subtype. The current findings do not support a broad role for GABA in the neuropathophysiology of ASD, but provide further indication that GABA(A) could be involved in ASD where there is a delay in language acquisition.
This article is part of the Special Issue entitled 'Neurodevelopmental Disorders'. (c) 2012 Elsevier Ltd. All rights reserved.
C1 [Enticott, Peter G.; Kennedy, Hayley A.; Fitzgerald, Paul B.] The Alfred, Monash Alfred Psychiat Res Ctr, Melbourne, Vic 3004, Australia.
[Enticott, Peter G.; Kennedy, Hayley A.; Fitzgerald, Paul B.] Monash Univ, Cent Clin Sch, Melbourne, Vic 3004, Australia.
[Enticott, Peter G.; Rinehart, Nicole J.; Tonge, Bruce J.; Bradshaw, John L.] Monash Univ, Sch Psychol & Psychiat, Ctr Dev Psychiat & Psychol, Clayton, Vic 3800, Australia.
RP Enticott, PG (reprint author), Monash Alfred Psychiat Res Ctr, Level 4,607 St Kilda Rd, Melbourne, Vic 3004, Australia.
EM peter.enticott@monash.edu
RI Fitzgerald, Paul/A-1225-2008
OI Fitzgerald, Paul/0000-0003-4217-8096
FU Clinical Research Fellowship from the National Health and Medical
Research Council (NHMRC), Australia; Practitioner Fellowship from the
NHMRC
FX The authors wish to thank Dr. Richard Thomson, Dr. Bernadette
Fitzgibbon, and Ms. Bronwyn Harrison for their assistance with the
processing of EMG signals. The authors also thank all those who took
part in the study and those who assisted with participant recruitment,
including Prof. Tony Attwood, Ms. Tracel Devereux (Alpha Autism), Dr.
Richard Eisenmajer, Mr. Dennis Freeman (Wesley College Melbourne), Ms.
Pam Langford, Dr. Kerryn Saunders, Ms. Linke Smedts-Kreskas
(S.P.O.C.A.A.S.), Autism Victoria, Autism Asperger's Advocacy Australia
(A4), Autism Spectrum Australia (ASPECT), and the Asperger Syndrome
Support Network. Dr. Enticott is funded by a Clinical Research
Fellowship from the National Health and Medical Research Council
(NHMRC), Australia. Prof. Fitzgerald is funded by a Practitioner
Fellowship from the NHMRC.
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PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3908
J9 NEUROPHARMACOLOGY
JI Neuropharmacology
PD MAY
PY 2013
VL 68
SI SI
BP 202
EP 209
DI 10.1016/j.neuropharm.2012.06.017
PG 8
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA 123EL
UT WOS:000317371100015
PM 22727823
ER
PT J
AU Silverman, JL
Babineau, BA
Oliver, CF
Karras, MN
Crawley, JN
AF Silverman, Jill L.
Babineau, Brooke A.
Oliver, Chicora F.
Karras, Michael N.
Crawley, Jacqueline N.
TI Influence of stimulant-induced hyperactivity on social approach in the
BTBR mouse model of autism
SO NEUROPHARMACOLOGY
LA English
DT Article
DE Social behavior; Repetitive behavior; Mouse model; Autism;
Neurodevelopmental disorder; BTBR
ID FRAGILE-X-SYNDROME; PLUS TF/J MOUSE; PERVASIVE DEVELOPMENTAL DISORDERS;
MGLUR5 ANTAGONIST MPEP; NULL MUTANT MICE; SPECTRUM DISORDERS;
LOCOMOTOR-ACTIVITY; ANXIOLYTIC-LIKE; INBRED STRAINS; D-AMPHETAMINE
AB Translational research is needed to discover pharmacological targets and treatments for the diagnostic behavioral domains of autism spectrum disorders. Animal models with phenotypic relevance to diagnostic criteria offer clear experimental strategies to test the efficacy and safety of novel treatments. Antagonists of mGluR5 receptors are in clinical trials for Fragile X syndrome and under investigation for the treatment of autism spectrum disorders. However, in preclinical studies of mGluR5 compounds tested in our laboratory and others, increased locomotion following mGluR5 modulation has been observed. Understanding the influence of general activity on sociability and repetitive behaviors will increase the accuracy of interpretations of positive outcomes measured from pharmacological treatment that produces locomotor activating or sedating effects. In the present studies, dose-response curves for D-amphetamine (AMPH)-induced hyperlocomotion were similar in standard B6 mice and in the BTBR mouse model of autism. AMPH produced significant, robust reductions in the high level of repetitive self-grooming that characterizes BTBR, and also reduced the low baseline grooming in B6, indicating that AMPH-induced hyperlocomotion competes with time spent engaged in self-grooming. We then tested AMPH in B6 and BTBR on the 3-chambered social approach task. One component of sociability, the time spent in the chamber with the novel mouse, in B6 mice was reduced, while the sniffing time component of sociability in BTBR mice was enhanced. This finding replicated across multiple cohorts treated with AMPH and saline vehicle. In-depth analysis revealed that AMPH increased the number and decreased the duration of sniffing bouts in BTBR, suggesting BTBR treated with AMPH mostly engaged in brief sniffs rather than true social interactions with the novel mouse during the social approach task. Our data suggest that compounds with stimulant properties may have some direct benefits on reducing repetitive behaviors in autism spectrum disorders, particularly in the subset of autistic individuals with hyperactivity.
This article is part of the Special Issue entitled 'Neurodevelopmental Disorders'. Published by Elsevier Ltd.
C1 [Silverman, Jill L.; Babineau, Brooke A.; Oliver, Chicora F.; Karras, Michael N.; Crawley, Jacqueline N.] NIMH, Lab Behav Neurosci, Bethesda, MD 20892 USA.
RP Silverman, JL (reprint author), Univ Calif Davis, Sch Med, MIND Inst, Sacramento, CA 95817 USA.
EM jill.silverman@ucdmc.ucdavis.edu
FU National Institute of Mental Health Intramural Research Program
FX The research was supported by the National Institute of Mental Health
Intramural Research Program.
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NR 110
TC 7
Z9 7
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3908
J9 NEUROPHARMACOLOGY
JI Neuropharmacology
PD MAY
PY 2013
VL 68
SI SI
BP 210
EP 222
DI 10.1016/j.neuropharm.2012.07.042
PG 13
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA 123EL
UT WOS:000317371100016
PM 22968082
ER
PT J
AU Tran, PL
Lehti, V
Lampi, KM
Helenius, H
Suominen, A
Gissler, M
Brown, AS
Sourander, A
AF Phuong Lien Tran
Lehti, Venla
Lampi, Katja M.
Helenius, Hans
Suominen, Auli
Gissler, Mika
Brown, Alan S.
Sourander, Andre
TI Smoking during Pregnancy and Risk of Autism Spectrum Disorder in a
Finnish National Birth Cohort
SO PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
LA English
DT Article
DE maternal smoking; Autism Spectrum Disorders; childhood autism;
Asperger's syndrome; pervasive developmental disorders; fetal; risk
factors; epidemiology
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; PERVASIVE DEVELOPMENTAL
DISORDER; DEFICIT HYPERACTIVITY DISORDER; PERINATAL FACTORS; MATERNAL
SMOKING; NICOTINE REPLACEMENT; INFANTILE-AUTISM; EXPOSURE; CONSEQUENCES;
PREVALENCE
AB Background Results of previous population-based studies examining associations between smoking during pregnancy and autism spectrum disorders (ASD) are contradictory. Furthermore, there is a lack of population-based studies examining the relationship between smoking during pregnancy and the main diagnostic subtypes of ASD. Methods We conducted a population-based nested casecontrol study based on the Finnish Prenatal Study of Autism (FIPS-A) among liveborn infants delivered in Finland between 1987 and 2005. Data on maternal smoking during pregnancy were available from the Finnish Medical Birth Register (FMBR) since October 1990. Data on ASD in the offspring were obtained from the Finnish Hospital Discharge Register (FHDR). Results Among the three subtypes of ASD, maternal smoking during the whole pregnancy was associated with an increased risk of pervasive developmental disorder (PDD) (odds ratio 1.2, 95% confidence interval 1.0, 1.5). The increase in odds persisted after controlling for maternal age, mother's socio-economic and psychiatric status, and infant's weight for gestational age. However, smoking exposure limited to the first trimester was not associated with PDD or any of the other ASD subtypes. Conclusions Maternal smoking is related to a modest increase in risk of PDD, while no associations were observed for childhood autism and Asperger's syndrome.
C1 [Phuong Lien Tran] Univ Grenoble 1, Grenoble, France.
[Phuong Lien Tran; Lehti, Venla; Lampi, Katja M.; Suominen, Auli; Sourander, Andre] Univ Turku, Dept Child Psychiat, Turku 20014, Finland.
[Helenius, Hans; Sourander, Andre] Univ Turku, Dept Biostat, Turku 20014, Finland.
[Sourander, Andre] Turku Univ Hosp, Dept Child Psychiat, Turku, Finland.
[Gissler, Mika] Natl Inst Hlth & Welf THL, Helsinki, Finland.
[Brown, Alan S.] Columbia Univ, Coll Phys & Surg, New York State Psychiat Inst, Dept Psychiat,Joseph L Mailman Sch Publ Hlth, New York, NY USA.
RP Sourander, A (reprint author), Univ Turku, Dept Child Psychiat, Itainen Pitkakatu 1 Varia, Turku 20014, Finland.
EM andre.sourander@utu.fi
FU Autism Speaks Foundation, USA; Sigrid Juselius Foundation, Finland; NIMH
[1K02-MH65422]
FX This study was supported by grants from Autism Speaks Foundation, USA
(A. S.), the Sigrid Juselius Foundation, Finland (A. S.); and NIMH
1K02-MH65422) (A.S.B.).
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NR 35
TC 6
Z9 6
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0269-5022
J9 PAEDIATR PERINAT EP
JI Paediatr. Perinat. Epidemiol.
PD MAY
PY 2013
VL 27
IS 3
BP 266
EP 274
DI 10.1111/ppe.12043
PG 9
WC Public, Environmental & Occupational Health; Obstetrics & Gynecology;
Pediatrics
SC Public, Environmental & Occupational Health; Obstetrics & Gynecology;
Pediatrics
GA 123XG
UT WOS:000317424600008
PM 23574415
ER
PT J
AU Hess, U
Fischer, A
AF Hess, Ursula
Fischer, Agneta
TI Emotional Mimicry as Social Regulation
SO PERSONALITY AND SOCIAL PSYCHOLOGY REVIEW
LA English
DT Article
DE facial mimicry; social regulation
ID RAPID FACIAL REACTIONS; MOTOR MIMICRY; ELECTROMYOGRAPHIC RESPONSES;
EXPRESSIVE DISPLAYS; POLITICAL LEADERS; EMPATHY; FACE; RECOGNITION;
PERCEPTION; AUTISM
AB Emotional mimicry is the imitation of the emotional expressions of others. According to the classic view on emotional mimicry (the Matched Motor Hypothesis), people mimic the specific facial movements that comprise a discrete emotional expression. However, little evidence exists for the mimicry of discrete emotions; rather, the extant evidence supports only valence-based mimicry. We propose an alternative Emotion Mimicry in Context view according to which emotional mimicry is not based on mere perception but rather on the interpretation of signals as emotional intentions in a specific context. We present evidence for the idea that people mimic contextualized emotions rather than simply expressive muscle movements. Our model postulates that (implicit or explicit) contextual information is needed for emotional mimicry to take place. It takes into account the relationship between observer and expresser, and suggests that emotional mimicry depends on this relationship and functions as a social regulator.
C1 [Hess, Ursula] Humboldt Univ, D-12489 Berlin, Germany.
[Fischer, Agneta] Univ Amsterdam, NL-1012 WX Amsterdam, Netherlands.
RP Hess, U (reprint author), Humboldt Univ, Dept Psychol, Rudower Chaussee 18, D-12489 Berlin, Germany.
EM Ursula.Hess@hu-berlin.de
RI Hess, Ursula/B-6736-2008
OI Hess, Ursula/0000-0002-6793-7282
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NR 131
TC 22
Z9 23
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1088-8683
J9 PERS SOC PSYCHOL REV
JI Pers. Soc. Psychol. Rev.
PD MAY
PY 2013
VL 17
IS 2
BP 142
EP 157
DI 10.1177/1088868312472607
PG 16
WC Psychology, Social
SC Psychology
GA 126QI
UT WOS:000317635900003
PM 23348982
ER
PT J
AU Escudero-Sanz, A
Carranza-Carnicero, JA
Huescar-Hernandez, E
AF Escudero-Sanz, Alfonso
Carranza-Carnicero, Jose A.
Huescar-Hernandez, Elisa
TI Emergence and development of Joint Attention in infancy
SO ANALES DE PSICOLOGIA
LA Spanish
DT Article
DE Joint attention; mother-child interaction; language; children
ID EARLY LANGUAGE-ACQUISITION; VISUAL-ATTENTION; INDIVIDUAL-DIFFERENCES;
YOUNG-CHILDREN; MOTHER-INFANT; NEUROCOGNITIVE FUNCTION; GAZE PERCEPTION;
GESTURE; OBJECT; AUTISM
AB Joint Attention is the first step to build communication. Hence, its study is of great interest due to its influence on cognitive, social, emotional, and language development. This article presents a review of the research on the emergence and development of Joint Attention in infancy, highlighting the major points of discussion on this topic. We begin by examining the concept of intentionality in the definition of Joint Attention, followed by a description of the sequence of development of this capacity. We finish relating joint attention to language development and suggesting directions that can guide ulterior research in the field.
C1 [Escudero-Sanz, Alfonso; Carranza-Carnicero, Jose A.] Univ Murcia, Dept Psicol Evolut & Educ, E-30100 Murcia, Spain.
[Huescar-Hernandez, Elisa] Univ Miguel Hernandez de Elche, Dept Psicol Salud, Elche, Spain.
RP Escudero-Sanz, A (reprint author), Univ Murcia, Fac Psicol, Dept Psicol Evolut & Educ, Campus Espinardo, E-30100 Murcia, Spain.
EM aescuder@um.es
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NR 117
TC 0
Z9 0
PU UNIV MURCIA
PI MURCIA
PA SERVICIO DE PUBLICACIONES, CALLE VISTALEGRE S/N, MURCIA, 30007, SPAIN
SN 0212-9728
J9 AN PSICOL-SPAIN
JI An. Psicol.
PD MAY
PY 2013
VL 29
IS 2
BP 404
EP 412
DI 10.6018/analesps.29.2.136871
PG 9
WC Psychology; Psychology, Multidisciplinary
SC Psychology
GA 114VD
UT WOS:000316770000012
ER
PT J
AU Quintin, EM
Bhatara, A
Poissant, H
Fombonne, E
Levitin, DJ
AF Quintin, Eve-Marie
Bhatara, Anjali
Poissant, Helene
Fombonne, Eric
Levitin, Daniel J.
TI Processing of musical structure by high-functioning adolescents with
autism spectrum disorders
SO CHILD NEUROPSYCHOLOGY
LA English
DT Article
DE Perception of structure; Musical structure; Music cognition; Global
processing; Autism spectrum disorders
ID COGNITIVE MECHANISMS; WILLIAMS-SYNDROME; CENTRAL COHERENCE; CHILDREN;
PERCEPTION; INDIVIDUALS; REPRESENTATION; PERFORMANCE; LISTENERS;
PHENOTYPE
AB Enhanced pitch perception and memory have been cited as evidence of a local processing bias in autism spectrum disorders (ASD). This bias is argued to account for enhanced perceptual functioning (Mottron & Burack, 2001; Mottron, Dawson, Soulieres, Hubert, & Burack, 2006) and central coherence theories of ASD (Frith, 1989; Happe & Frith, 2006). A local processing bias confers a different cognitive style to individuals with ASD (Happe, 1999), which accounts in part for their good visuospatial and visuoconstructive skills. Here, we present analogues in the auditory domain, audiotemporal or audioconstructive processing, which we assess using a novel experimental task: a musical puzzle. This task evaluates the ability of individuals with ASD to process temporal sequences of musical events as well as various elements of musical structure and thus indexes their ability to employ a global processing style. Musical structures created and replicated by children and adolescents with ASD (1019 years old) and typically developing children and adolescents (717 years old) were found to be similar in global coherence. Presenting a musical template for reference increased accuracy equally for both groups, with performance associated to performance IQ and short-term auditory memory. The overall pattern of performance was similar for both groups; some puzzles were easier than others and this was the case for both groups. Task performance was further found to be correlated with the ability to perceive musical emotions, more so for typically developing participants. Findings are discussed in light of the empathizing-systemizing theory of ASD (Baron-Cohen, 2009) and the importance of describing the strengths of individuals with ASD (Happe, 1999; Heaton, 2009).
C1 [Quintin, Eve-Marie] Stanford Univ, Sch Med, Ctr Interdisciplinary Brain Sci Res, Stanford, CA 94305 USA.
[Bhatara, Anjali] Univ Paris, Lab Psychol Percept, F-75252 Paris, France.
[Poissant, Helene] Univ Quebec, Dept Psychol, Montreal, PQ H3C 3P8, Canada.
[Fombonne, Eric] McGill Univ, Dept Psychiat, Montreal, PQ H3A 1B1, Canada.
[Levitin, Daniel J.] McGill Univ, Dept Psychol, Montreal, PQ H3A 1B1, Canada.
RP Levitin, DJ (reprint author), McGill Univ, Dept Psychol, Stewart Biol Bldg,1205 Dr Penfield Ave, Montreal, PQ H3A 1B1, Canada.
EM daniel.levitin@mcgill.ca
FU FQRSC; Canadian Autism Research Training Program; CIHR; Autism Speaks;
NSERC; Google
FX This article was submitted in partial fulfillment of the requirements
for the PhD in Psychology by the first author. The research was
supported in part by a doctoral grant to EMQ by FQRSC and the Canadian
Autism Research Training Program (funded by CIHR) and by research grants
to DJL from NAAR (now Autism Speaks), NSERC, Google, and John and
Ethelene Gareau. EF has been an expert witness for vaccine manufacturers
and for the U. S. Department of Justice and the U. S. Department of
Health and Social Services in U. S. Thimerosal litigation. None of his
research has ever been funded by the industry.
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NR 71
TC 1
Z9 1
PU PSYCHOLOGY PRESS
PI HOVE
PA 27 CHURCH RD, HOVE BN3 2FA, EAST SUSSEX, ENGLAND
SN 0929-7049
J9 CHILD NEUROPSYCHOL
JI Child Neuropsychol.
PD MAY 1
PY 2013
VL 19
IS 3
BP 250
EP 275
DI 10.1080/09297049.2011.653540
PG 26
WC Clinical Neurology
SC Neurosciences & Neurology
GA 122BS
UT WOS:000317290900003
PM 22397615
ER
PT J
AU Toth, ZE
Heinzlmann, A
Hashimoto, H
Koves, K
AF Toth, Zsuzsanna E.
Heinzlmann, Andrea
Hashimoto, Hitoshi
Koeves, Katalin
TI Distribution of Secretin Receptors in the Rat Central Nervous System: an
in situ Hybridization Study
SO JOURNAL OF MOLECULAR NEUROSCIENCE
LA English
DT Article
DE Brain stem; Forebrain; In vitro transcription; Radioactive labeling;
Mapping
ID BRAIN; AUTISM; CEREBELLUM; EXPRESSION; TERMINALIS; NUCLEUS; BINDING
AB Secretin shows a wide distribution in the brain. Functional significance of central secretin is stressed since it has been associated with autism and schizophrenia. The presence of the secretin receptor was previously demonstrated in the brain by different methods. Neurons in the cerebellum, hypothalamic paraventricular and supraoptic nuclei, and in the vascular organ of lamina terminalis were shown to express secretin receptor mRNA by using in situ hybridization with digoxigenin-labeled probe. In this work, we used a very sensitive radioactive in situ hybridization technique and systematically mapped the expression of secretin receptor mRNA in the brain. The densest labeling was observed in the nucleus of solitary tract and in the laterodorsal thalamic nucleus, where decreasing number of receptors was seen in the vascular organ of lamina terminalis, and the lateral habenular complex, and then in the supraoptic nucleus. Only a few scattered labeled cells were observed in the median frontal gyrus, entorhinal cortex, hypothalamic paraventricular nucleus, perifornical region, lateral hypothalamic area, head of the caudate nucleus, spinal trigeminal nucleus, and cerebellum. Secretin receptor mRNA showed a far wider distribution than was known before, suggesting a more significant functional relevance than thought earlier.
C1 [Toth, Zsuzsanna E.] Semmelweis Univ, Dept Anat Histol & Embryol, Neuromorphol & Neuroendocrine Res Lab, H-1094 Budapest, Hungary.
[Toth, Zsuzsanna E.] Hungarian Acad Sci, H-1094 Budapest, Hungary.
[Heinzlmann, Andrea; Koeves, Katalin] Semmelweis Univ, Dept Human Morphol & Dev Biol, H-1094 Budapest, Hungary.
[Hashimoto, Hitoshi] Osaka Univ, Grad Sch Pharmaceut Sci, Lab Med Pharmacol, Suita, Osaka, Japan.
RP Koves, K (reprint author), Semmelweis Univ, Dept Human Morphol & Dev Biol, Tuzolto U 58, H-1094 Budapest, Hungary.
EM koves.katalin@med.semmelweis-univ.hu
RI Hashimoto, Hitoshi/D-1209-2010
OI Hashimoto, Hitoshi/0000-0001-6548-4016
FU ETT [495/09]; Department of Human Morphology and Developmental Biology,
Semmelweis University
FX We are grateful to Mrs. Anna Takacs and Judit Kerti for their excellent
technical assistance. This work was supported by ETT grant 495/09 to ZE
Toth and by the Department of Human Morphology and Developmental
Biology, Semmelweis University.
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NR 32
TC 0
Z9 0
PU HUMANA PRESS INC
PI TOTOWA
PA 999 RIVERVIEW DRIVE SUITE 208, TOTOWA, NJ 07512 USA
SN 0895-8696
J9 J MOL NEUROSCI
JI J. Mol. Neurosci.
PD MAY
PY 2013
VL 50
IS 1
BP 172
EP 178
DI 10.1007/s12031-012-9895-1
PG 7
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA 123DD
UT WOS:000317367700017
PM 23065333
ER
PT J
AU Travers, JC
Tincani, M
Krezmien, MP
AF Travers, Jason C.
Tincani, Matt
Krezmien, Michael P.
TI A Multiyear National Profile of Racial Disparity in Autism
Identification
SO JOURNAL OF SPECIAL EDUCATION
LA English
DT Article
DE autism; race; disproportionate representation; prevalence;
identification
ID SPECIAL-EDUCATION; DIAGNOSTIC SUBSTITUTION; MINORITY-STUDENTS;
PREVALENCE; EQUITY; DIVERSITY; TRENDS; RACE
AB Disproportionate representation of racially diverse students in special education is a well-documented problem, yet few studies have systematically evaluated disproportionate representation of diverse students with autism. This study examined disproportionate representation of racially diverse students with autism by determining risk and logistical odds ratios among racially diverse and White students from the national population between 1998 and 2006. Although overall risk of autism increased for all racial groups every year, White students were twice as likely to be identified with autism as Hispanic and American Indian/Alaskan Native students during most years of the sample. Although initially overrepresented, the odds ratios for Asian/Pacific Islander and Black students with autism continuously declined in recent years. Hispanic and American Indian/Alaskan Native students were significantly underrepresented every year in the analysis. Potential cause and implications of underrepresentation are described, along with directions for research.
C1 [Travers, Jason C.; Krezmien, Michael P.] Univ Massachusetts, Amherst, MA 01003 USA.
[Tincani, Matt] Temple Univ, Philadelphia, PA 19122 USA.
RP Travers, JC (reprint author), Univ Massachusetts, 171 Hills South,111 Thatcher Rd, Amherst, MA 01003 USA.
EM travers@educ.umass.edu
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NR 43
TC 5
Z9 5
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0022-4669
J9 J SPEC EDUC
JI J. Spec. Educ.
PD MAY
PY 2013
VL 47
IS 1
BP 41
EP 49
DI 10.1177/0022466911416247
PG 9
WC Education, Special
SC Education & Educational Research
GA 119BZ
UT WOS:000317073200004
ER
PT J
AU Clegg, J
Gillott, A
Jones, J
AF Clegg, Jennifer
Gillott, Alinda
Jones, Jo
TI Conceptual issues in neurodevelopmental disorders: lives out of synch
SO CURRENT OPINION IN PSYCHIATRY
LA English
DT Review
DE affective; cognitive; conceptual; embodied; neurodevelopmental disorders
ID AUTISM SPECTRUM DISORDER; TOURETTE SYNDROME; INTELLECTUAL DISABILITY;
CLINICAL-DIAGNOSIS; SLEEP PROBLEMS; CHILDREN; SYMPTOMS; BEHAVIOR;
MOTHERS; ADULTS
AB Purpose of review
Current revision of the two major psychiatric classification systems has elicited particular comment on neurodevelopmental disorders, which have seen increased provision of specialist clinical services, user group activity, fictional and biographical accounts, and research. Philosophical scrutiny of autism research and literature provides an additional perspective.
Recent findings
Neurodevelopmental disorders show considerable overlap neuropsychologically, physiologically and genetically. They overlap diagnostically with schizophrenia, personality disorders, anxiety and depression. Of the two main diagnostic groups, there is more evidence of change with maturation in autism spectrum disorder than attention-deficit hyperactivity disorder. Interventions should combine cognitive, affective and embodied aspects of these disorders, and encompass the individual and their social environment. There is considerable evidence of the toll that caring for people with neurodevelopmental disorders exerts on parents.
Summary
Neurodevelopmental disorders are multifaceted: research addressed to connection rather than further Balkanization is more likely to be fruitful. Clinicians should consider which facets are displayed symptomatically to enable people to grow through rather than surrender to their impairments. Social scaffolding optimizes functional well being. Future research should take into account the tensions in the relationship between research and user groups, and examine the experiences of adults and of the spouses and partners of those affected.
C1 [Clegg, Jennifer] Univ Nottingham, Nottingham NG7 2TU, England.
[Clegg, Jennifer; Gillott, Alinda; Jones, Jo] Nottinghamshire Healthcare NHS Trust, Nottingham, England.
RP Clegg, J (reprint author), Univ Nottingham, Inst Mental Hlth, Innovat Pk,Triumph Rd, Nottingham NG7 2TU, England.
EM Jennifer.Clegg@Nottingham.ac.uk
FU Asperger's syndrome
FX Dr Clegg has no conflicts of interest to declare. Drs Jones and Gillott
are both employed by the Nottinghamshire Healthcare NHS Trust providing
a specialist service to adults with Asperger's syndrome. Dr Gillott has
also received payment for preparation of court reports concerning adults
with Asperger's syndrome.
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NR 34
TC 3
Z9 3
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0951-7367
J9 CURR OPIN PSYCHIATR
JI Curr. Opin. Psychiatr.
PD MAY
PY 2013
VL 26
IS 3
BP 289
EP 294
DI 10.1097/YCO.0b013e32835f6771
PG 6
WC Psychiatry
SC Psychiatry
GA 114KL
UT WOS:000316739700010
PM 23519204
ER
PT J
AU Fors, SD
Fors, MF
AF Fors, Sarah D.
Fors, Matt F.
TI Is Autism Linked to Migraine Aura?
SO EPIDEMIOLOGY
LA English
DT Letter
C1 [Fors, Sarah D.] Grand Rapids Publ Sch Special Educ Consulting, Los Angeles Unified Sch Dist Ret, Grand Rapids, MI USA.
[Fors, Matt F.] Holland Hosp, Holland, MI USA.
RP Fors, SD (reprint author), Grand Rapids Publ Sch Special Educ Consulting, Los Angeles Unified Sch Dist Ret, Grand Rapids, MI USA.
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NR 7
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 1044-3983
J9 EPIDEMIOLOGY
JI Epidemiology
PD MAY
PY 2013
VL 24
IS 3
BP 472
EP 473
DI 10.1097/EDE.0b013e31828c7363
PG 3
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA 118CA
UT WOS:000316998800029
PM 23549192
ER
PT J
AU Oyabu, A
Narita, M
Tashiro, Y
AF Oyabu, Akiko
Narita, Masaaki
Tashiro, Yasura
TI The effects of prenatal exposure to valproic acid on the initial
development of serotonergic neurons
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
LA English
DT Article
DE Autism; Valproic acid; Rat embryo; Serotonin neuron; Raphe nuclei;
Development
ID AUTISM SPECTRUM DISORDERS; DORSAL RAPHE NUCLEUS; CRANIAL NERVES;
ANIMAL-MODELS; NEURAL PLATE; WHOLE-MOUNT; FETAL; RAT; PATHOGENESIS;
BEHAVIOR
AB In utero exposure to valproic acid (VPA) may cause symptoms related to autism spectrum disorder (ASD). An abnormal serotonergic (5-HT) system has been implicated in the etiology of ASD. In the present study, we have examined the expression and distribution of two early inducers of 5-HT neurons in rat embryos, to elucidate the prenatal development of 5-HT neurons after VPA exposure at embryonic day (E) 9.5. Whole-embryo in situ hybridization at E11.5 showed that the expression of sonic hedgehog, one of the early inducers of 5-HT neurons, was reduced around the isthmus in the VPA-exposed group. Furthermore, whole-mount immunohistochemistry of the hindbrain and quantitative analysis of 5-HT neurons in the rostral raphe nucleus (rRN) revealed that neuronal distribution in the caudal part of the rRN was narrower at E15.5 in the VPA-exposed group than in controls. Thus, the early development of 5-HT neurons was altered after VPA exposure in utero. The observed prenatal alteration may be significant in the etiology of autism. (c) 2013 ISDN. Published by Elsevier Ltd. All rights reserved.
C1 [Oyabu, Akiko; Narita, Masaaki; Tashiro, Yasura] Mie Univ, Grad Sch Med, Dept Dev & Regenerat Med, Tsu, Mie 5148507, Japan.
RP Tashiro, Y (reprint author), Mie Univ, Grad Sch Med, Dept Dev & Regenerat Med, 2-174 Edobashi, Tsu, Mie 5148507, Japan.
EM ytashiro@doc.medic.mie-u.ac.jp
FU Ministry of Health, Labour and Welfare of the Japanese Government
FX This study was supported in part by the Ministry of Health, Labour and
Welfare of the Japanese Government.
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NR 41
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0736-5748
J9 INT J DEV NEUROSCI
JI Int. J. Dev. Neurosci.
PD MAY
PY 2013
VL 31
IS 3
BP 202
EP 208
DI 10.1016/j.ijdevneu.2013.01.006
PG 7
WC Developmental Biology; Neurosciences
SC Developmental Biology; Neurosciences & Neurology
GA 117TG
UT WOS:000316975400008
PM 23376409
ER
PT J
AU Ghaleiha, A
Asadabadi, M
Mohammadi, MR
Shahei, M
Tabrizi, M
Hajiaghaee, R
Hassanzadeh, E
Akhondzadeh, S
AF Ghaleiha, Ali
Asadabadi, Mahtab
Mohammadi, Mohammad-Reza
Shahei, Maryam
Tabrizi, Mina
Hajiaghaee, Reza
Hassanzadeh, Elmira
Akhondzadeh, Shahin
TI Memantine as adjunctive treatment to risperidone in children with
autistic disorder: a randomized, double-blind, placebo-controlled trial
SO INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY
LA English
DT Article
DE Autism; glutamate; memantine; NMDA; trial
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; CEREBELLAR
CORTICES; ABERRANT BEHAVIOR; RATING-SCALE; ADOLESCENTS; PARIETAL;
PROTEIN
AB Autism is a neurodevelopmental disorder that causes significant impairment in socialization and communication. It is also associated with ritualistic and stereotypical behaviour. Recent studies propose both hyper-and hypoglutamatergic ideologies for autism. The objective of this study was to assess the effects of memantine plus risperidone in the treatment of children with autism. Children with autism were randomly allocated to risperidone plus memantine or placebo plus risperidone for a 10-wk, double-blind, placebo-controlled study. The dose of risperidone was titrated up to 3 mg/d and memantine was titrated to 20 mg/d. Children were assessed at baseline and after 2, 4, 6, 8 and 10 wk of starting medication protocol. The primary outcome measure was the irritability subscale of Aberrant Behavior Checklist-Community (ABC-C). Difference between the two treatment arms was significant as the group that received memantine had greater reduction in ABC-C subscale scores for irritability, stereotypic behaviour and hyperactivity. Eight side-effects were observed over the trial, out of the 25 side-effects that the checklist included. The difference between the two groups in the frequency of side-effects was not significant. The present study suggests that memantine may be a potential adjunctive treatment strategy for autism and it was generally well tolerated. This trial is registered with the Iranian Clinical Trials Registry (IRCT1138901151556N10; www.irct.ir)
C1 [Ghaleiha, Ali] Hamadan Univ Med Sci, Res Ctr Behav Disorders & Subst Abuse, Hamadan, Iran.
[Asadabadi, Mahtab; Mohammadi, Mohammad-Reza; Shahei, Maryam; Hassanzadeh, Elmira; Akhondzadeh, Shahin] Univ Tehran Med Sci, Roozbeh Hosp, Psychiat Res Ctr, Tehran 13337, Iran.
[Tabrizi, Mina] Univ Tehran Med Sci, Fac Med, Dept Med Genet, Tehran 13337, Iran.
[Hajiaghaee, Reza] Inst Med Plants ACECR, Tehran, Iran.
RP Akhondzadeh, S (reprint author), Univ Tehran Med Sci, Roozbeh Psychiat Hosp, Psychiat Res Ctr, South Kargar St, Tehran 13337, Iran.
EM s.akhond@neda.net
FU Tehran University of Medical Sciences [6964]
FX This study was Dr Maryam Shahei's postgraduate thesis toward the Iranian
Board of Psychiatry. This study was supported by a grant from Tehran
University of Medical Sciences to Professor Shahin Akhondzadeh (Grant
No: 6964).
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NR 25
TC 12
Z9 13
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 1461-1457
J9 INT J NEUROPSYCHOPH
JI Int. J. Neuropsychopharmacol.
PD MAY
PY 2013
VL 16
IS 4
BP 783
EP 789
DI 10.1017/S1461145712000880
PG 7
WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA 117ZJ
UT WOS:000316991800008
PM 22999292
ER
PT J
AU Bortolato, M
Godar, SC
Alzghoul, L
Zhang, JL
Darling, RD
Simpson, KL
Bini, V
Chen, K
Wellman, CL
Lin, RCS
Shih, JC
AF Bortolato, Marco
Godar, Sean C.
Alzghoul, Loai
Zhang, Junlin
Darling, Ryan D.
Simpson, Kimberly L.
Bini, Valentina
Chen, Kevin
Wellman, Cara L.
Lin, Rick C. S.
Shih, Jean C.
TI Monoamine oxidase A and A/B knockout mice display autistic-like features
SO INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY
LA English
DT Article
DE Animal models; autistic-spectrum disorders; monoamine oxidase
ID PERVASIVE DEVELOPMENTAL DISORDERS; PURKINJE-CELL LOSS; A-DEFICIENT MICE;
SPECTRUM DISORDERS; MOUSE MODEL; INFANTILE-AUTISM; CORPUS-CALLOSUM;
SOMATOSENSORY CORTEX; REPETITIVE BEHAVIOR; MENTAL-RETARDATION
AB Converging lines of evidence show that a sizable subset of autism-spectrum disorders (ASDs) is characterized by increased blood levels of serotonin (5-hydroxytryptamine, 5-HT), yet the mechanistic link between these two phenomena remains unclear. The enzymatic degradation of brain 5-HT is mainly mediated by monoamine oxidase (MAO)A and, in the absence of this enzyme, by its cognate isoenzyme MAOB. MAOA and A/B knockout (KO) mice display high 5-HT levels, particularly during early developmental stages. Here we show that both mutant lines exhibit numerous behavioural hallmarks of ASDs, such as social and communication impairments, perseverative and stereotypical responses, behavioural inflexibility, as well as subtle tactile and motor deficits. Furthermore, both MAOA and A/B KO mice displayed neuropathological alterations reminiscent of typical ASD features, including reduced thickness of the corpus callosum, increased dendritic arborization of pyramidal neurons in the prefrontal cortex and disrupted microarchitecture of the cerebellum. The severity of repetitive responses and neuropathological aberrances was generally greater in MAOA/B KO animals. These findings suggest that the neurochemical imbalances induced by MAOA deficiency (either by itself or in conjunction with lack of MAOB) may result in an array of abnormalities similar to those observed in ASDs. Thus, MAOA and A/B KO mice may afford valuable models to help elucidate the neurobiological bases of these disorders and related neuro-developmental problems.
C1 [Bortolato, Marco; Godar, Sean C.; Chen, Kevin; Shih, Jean C.] Univ So Calif, Sch Pharm, Dept Pharmacol & Pharmaceut Sci, Los Angeles, CA 90089 USA.
[Alzghoul, Loai] Univ Mississippi, Med Ctr, Program Neurosci, Jackson, MS 39216 USA.
[Zhang, Junlin] Univ Mississippi, Med Ctr, Dept Surg, Jackson, MS 39216 USA.
[Darling, Ryan D.; Simpson, Kimberly L.; Lin, Rick C. S.] Univ Mississippi, Med Ctr, Dept Anat Sci & Neurobiol, Jackson, MS 39216 USA.
[Simpson, Kimberly L.; Lin, Rick C. S.] Univ Mississippi, Med Ctr, Dept Psychiat & Human Behav, Jackson, MS 39216 USA.
[Bini, Valentina] Univ Cagliari, Dept Neurosci BB Brodie, Guy Everett Lab, Monserrato, CA, Italy.
[Wellman, Cara L.] Indiana Univ, Dept Psychol & Brain Sci, Bloomington, IN USA.
[Wellman, Cara L.] Indiana Univ, Program Neurosci, Bloomington, IN USA.
[Shih, Jean C.] Univ So Calif, Keck Sch Med, Dept Cell & Neurobiol, Los Angeles, CA 90089 USA.
RP Shih, JC (reprint author), Univ So Calif, Sch Pharm, Dept Pharmacol & Pharmaceut Sci, PSC 518,1985 Zonal Ave, Los Angeles, CA 90089 USA.
EM jcshih@usc.edu
FU National Institute of Health [R01MH39085, R21HD070611]; Boyd and Elsie
Welin Professorship; USC Zumberge Research Individual Grant
FX This work was supported by National Institute of Health grants
[R01MH39085 to J. C. S., R21HD070611 to M. B.], Boyd and Elsie Welin
Professorship to J. C. S. and USC Zumberge Research Individual Grant to
M. B. We are grateful to Anna L. Scott, Simone Tambaro, Felix Li and
Paradai Adisayathepkul for their valuable support in the execution of
the experiments.
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NR 105
TC 15
Z9 15
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 1461-1457
J9 INT J NEUROPSYCHOPH
JI Int. J. Neuropsychopharmacol.
PD MAY
PY 2013
VL 16
IS 4
BP 869
EP 888
DI 10.1017/S1461145712000715
PG 20
WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA 117ZJ
UT WOS:000316991800016
PM 22850464
ER
PT J
AU Gottfried, C
Bambini, V
Silvestrin, R
Vaccaro, T
Zanatta, G
Baronio, D
Margis, R
Robinson-Agramonte, M
Riesgo, R
AF Gottfried, C.
Bambini-Junior, V.
Silvestrin, R.
Vaccaro, T.
Zanatta, G.
Baronio, D.
Margis, R.
Robinson-Agramonte, M.
Riesgo, R.
TI The Island of Autism: Building bridges through experimental research
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Meeting Abstract
CT 24th Biennial Meeting of the International-Society-for-Neurochemistry
and the American-Society-for-Neurochemistry
CY APR 20-24, 2013
CL Cancun, MEXICO
SP Int Soc Neurochemistry, Amer Soc Neurochemistry
C1 [Gottfried, C.; Bambini-Junior, V.; Silvestrin, R.; Vaccaro, T.; Zanatta, G.; Baronio, D.; Margis, R.; Riesgo, R.] Univ Fed Rio Grande do Sul, Porto Alegre, RS, Brazil.
[Gottfried, C.; Zanatta, G.; Riesgo, R.] Clin Hosp Porto Alegre, Porto Alegre, RS, Brazil.
[Robinson-Agramonte, M.] Int Ctr Neurol Restorat, Havana, Cuba.
RI MARGIS, ROGERIO/A-7230-2008; Zanatta, Geancarlo/F-9874-2014;
Bambini-Junior, Victorio/O-7563-2014
OI MARGIS, ROGERIO/0000-0002-2871-4473;
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0022-3042
J9 J NEUROCHEM
JI J. Neurochem.
PD MAY
PY 2013
VL 125
SU 1
SI SI
BP 11
EP 12
PG 2
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA 117OB
UT WOS:000316961700017
ER
PT J
AU Riesgo, RS
AF Riesgo, R. S.
TI Autism Sprectrum Disorders: updating the clinical approach
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Meeting Abstract
CT 24th Biennial Meeting of the International-Society-for-Neurochemistry
and the American-Society-for-Neurochemistry
CY APR 20-24, 2013
CL Cancun, MEXICO
SP Int Soc Neurochemistry, Amer Soc Neurochemistry
C1 [Riesgo, R. S.] Univ Fed Rio Grande do Sul, Porto Alegre, RS, Brazil.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0022-3042
J9 J NEUROCHEM
JI J. Neurochem.
PD MAY
PY 2013
VL 125
SU 1
SI SI
BP 11
EP 11
PG 1
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA 117OB
UT WOS:000316961700015
ER
PT J
AU Robinson-Agramonte, MA
AF Robinson-Agramonte, M. A.
TI Current aspects On autism-associated biomolecular markers
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Meeting Abstract
CT 24th Biennial Meeting of the International-Society-for-Neurochemistry
and the American-Society-for-Neurochemistry
CY APR 20-24, 2013
CL Cancun, MEXICO
SP Int Soc Neurochemistry, Amer Soc Neurochemistry
C1 [Robinson-Agramonte, M. A.] Int Ctr Neurol Restorat, Havana, Cuba.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0022-3042
J9 J NEUROCHEM
JI J. Neurochem.
PD MAY
PY 2013
VL 125
SU 1
SI SI
BP 11
EP 11
PG 1
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA 117OB
UT WOS:000316961700016
ER
PT J
AU Ashwood, P
AF Ashwood, P.
TI Is there are link between immune dysfunction and autism?
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Meeting Abstract
CT 24th Biennial Meeting of the International-Society-for-Neurochemistry
and the American-Society-for-Neurochemistry
CY APR 20-24, 2013
CL Cancun, MEXICO
SP Int Soc Neurochemistry, Amer Soc Neurochemistry
C1 [Ashwood, P.] Univ Calif Davis, Dept Med Microbiol & Immunol, Sacramento, CA 95817 USA.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0022-3042
J9 J NEUROCHEM
JI J. Neurochem.
PD MAY
PY 2013
VL 125
SU 1
SI SI
BP 12
EP 12
PG 1
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA 117OB
UT WOS:000316961700018
ER
PT J
AU Verma, D
Chakraborti, B
Sinha, S
Chatterjee, A
Mukhopadhyay, K
Mohanakumar, KP
Usha, R
AF Verma, D.
Chakraborti, B.
Sinha, S.
Chatterjee, A.
Mukhopadhyay, K.
Mohanakumar, K. P.
Usha, R.
TI A genetic association study on monoamine oxidase A (MAOA) gene
polymorphisms with autism spectrum disorder (ASD) in Indians
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Meeting Abstract
CT 24th Biennial Meeting of the International-Society-for-Neurochemistry
and the American-Society-for-Neurochemistry
CY APR 20-24, 2013
CL Cancun, MEXICO
SP Int Soc Neurochemistry, Amer Soc Neurochemistry
C1 [Verma, D.; Chakraborti, B.; Mukhopadhyay, K.; Usha, R.] Manovikas Kendra, MBRDC, Kolkata, India.
[Sinha, S.; Chatterjee, A.] Manovikas Kendra, Out Patient Dept, Kolkata, India.
[Mohanakumar, K. P.] Indian Inst Chem Biol, Cell Biol & Physiol Div, Kolkata, India.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0022-3042
EI 1471-4159
J9 J NEUROCHEM
JI J. Neurochem.
PD MAY
PY 2013
VL 125
SU 1
SI SI
BP 128
EP 129
PG 2
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA 117OB
UT WOS:000316961700270
ER
PT J
AU Kazlauskas, N
Lucchina, L
Campolongo, M
Depino, A
AF Kazlauskas, N.
Lucchina, L.
Campolongo, M.
Depino, A.
TI Study of peripheral and central inflammatory responses in a mouse model
of autism
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Meeting Abstract
CT 24th Biennial Meeting of the International-Society-for-Neurochemistry
and the American-Society-for-Neurochemistry
CY APR 20-24, 2013
CL Cancun, MEXICO
SP Int Soc Neurochemistry, Amer Soc Neurochemistry
C1 [Kazlauskas, N.; Lucchina, L.; Campolongo, M.; Depino, A.] CONICET UBA, Inst Physiol Mol Biol & Neurosci, Buenos Aires, DF, Argentina.
[Kazlauskas, N.; Lucchina, L.; Campolongo, M.; Depino, A.] Univ Buenos Aires, FCEyN, Dept Physiol Mol & Cellular Biol, Buenos Aires, DF, Argentina.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0022-3042
J9 J NEUROCHEM
JI J. Neurochem.
PD MAY
PY 2013
VL 125
SU 1
SI SI
BP 134
EP 134
PG 1
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA 117OB
UT WOS:000316961700283
ER
PT J
AU Chauhan, V
Ji, L
Chauhan, A
AF Chauhan, V.
Ji, L.
Chauhan, A.
TI Protein kinase C and regressive autism: relationship with developmental
abnormalities
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Meeting Abstract
CT 24th Biennial Meeting of the International-Society-for-Neurochemistry
and the American-Society-for-Neurochemistry
CY APR 20-24, 2013
CL Cancun, MEXICO
SP Int Soc Neurochemistry, Amer Soc Neurochemistry
C1 [Chauhan, V.; Ji, L.; Chauhan, A.] NYS Inst Basic Res Dev Disabil, Staten Isl, NY USA.
RI Ji, Lina/H-5326-2013
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0022-3042
J9 J NEUROCHEM
JI J. Neurochem.
PD MAY
PY 2013
VL 125
SU 1
SI SI
BP 154
EP 154
PG 1
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA 117OB
UT WOS:000316961700327
ER
PT J
AU Chauhan, A
Gu, F
Chauhan, V
AF Chauhan, A.
Gu, F.
Chauhan, V.
TI Reduced activities of mitochondrial electron transfer chain complexes in
the frontal cerebral cortex in autism
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Meeting Abstract
CT 24th Biennial Meeting of the International-Society-for-Neurochemistry
and the American-Society-for-Neurochemistry
CY APR 20-24, 2013
CL Cancun, MEXICO
SP Int Soc Neurochemistry, Amer Soc Neurochemistry
C1 [Chauhan, A.; Gu, F.; Chauhan, V.] NYS Inst Basic Res Dev Disabil, Staten Isl, NY USA.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0022-3042
J9 J NEUROCHEM
JI J. Neurochem.
PD MAY
PY 2013
VL 125
SU 1
SI SI
BP 177
EP 177
PG 1
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA 117OB
UT WOS:000316961700391
ER
PT J
AU MacFabe, DF
Tichenoff, LJ
Boon, FH
Thomas, R
Taylor, RA
AF MacFabe, D. F.
Tichenoff, L. J.
Boon, F. H.
Thomas, R.
Taylor, R. A.
TI Neuropathological and biochemical effects of dietary propionic acid in
rats -further development of a rodent model of autism
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Meeting Abstract
CT 24th Biennial Meeting of the International-Society-for-Neurochemistry
and the American-Society-for-Neurochemistry
CY APR 20-24, 2013
CL Cancun, MEXICO
SP Int Soc Neurochemistry, Amer Soc Neurochemistry
C1 [MacFabe, D. F.; Tichenoff, L. J.; Boon, F. H.; Thomas, R.; Taylor, R. A.] Univ Western Ontario, London, ON, Canada.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0022-3042
J9 J NEUROCHEM
JI J. Neurochem.
PD MAY
PY 2013
VL 125
SU 1
SI SI
BP 248
EP 248
PG 1
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA 117OB
UT WOS:000316961700574
ER
PT J
AU MacFabe, DF
Melnyk, S
Frye, RE
AF MacFabe, D. F.
Melnyk, S.
Frye, R. E.
TI Unique acylcarnitines in a rat model of autism predict potential
biomarkers for mitochondrial dysfunction in autistic patients
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Meeting Abstract
CT 24th Biennial Meeting of the International-Society-for-Neurochemistry
and the American-Society-for-Neurochemistry
CY APR 20-24, 2013
CL Cancun, MEXICO
SP Int Soc Neurochemistry, Amer Soc Neurochemistry
C1 [MacFabe, D. F.] Univ Western Ontario, London, ON, Canada.
[Melnyk, S.; Frye, R. E.] Arkansas Childrens Hosp Res Inst, Little Rock, AR USA.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0022-3042
J9 J NEUROCHEM
JI J. Neurochem.
PD MAY
PY 2013
VL 125
SU 1
SI SI
BP 248
EP 248
PG 1
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA 117OB
UT WOS:000316961700575
ER
PT J
AU Essa, MM
Braidy, N
Vijayan, KR
Subash, S
Guillemin, GJ
AF Essa, M. M.
Braidy, N.
Vijayan, K. R.
Subash, S.
Guillemin, G. J.
TI Excitotoxicity in the Pathogenesis of Autism
SO NEUROTOXICITY RESEARCH
LA English
DT Review
DE Autism; Excitotoxicity; Glutamatergic receptors; Membrane potential;
Neurotransmitter; Ion channel; Free radicals
ID METHYL-D-ASPARTATE; NEUROTROPHIC FACTOR; SPECTRUM DISORDERS;
CALCIUM-CHANNEL; GLUTAMATE NEUROTOXICITY; ALZHEIMERS-DISEASE;
LIPID-PEROXIDATION; NEURONAL INJURY; NMDA RECEPTORS; NERVOUS-SYSTEM
AB Autism is a debilitating neurodevelopment disorder characterised by stereotyped interests and behaviours, and abnormalities in verbal and non-verbal communication. It is a multifactorial disorder resulting from interactions between genetic, environmental and immunological factors. Excitotoxicity and oxidative stress are potential mechanisms, which are likely to serve as a converging point to these risk factors. Substantial evidence suggests that excitotoxicity, oxidative stress and impaired mitochondrial function are the leading cause of neuronal dysfunction in autistic patients. Glutamate is the primary excitatory neurotransmitter produced in the CNS, and overactivity of glutamate and its receptors leads to excitotoxicity. The over excitatory action of glutamate, and the glutamatergic receptors NMDA and AMPA, leads to activation of enzymes that damage cellular structure, membrane permeability and electrochemical gradients. The role of excitotoxicity and the mechanism behind its action in autistic subjects is delineated in this review.
C1 [Essa, M. M.; Vijayan, K. R.; Subash, S.] Sultan Qaboos Univ, Coll Agr & Marine Sci, Dept Food Sci & Nutr, Muscat, Oman.
[Essa, M. M.; Guillemin, G. J.] Univ NSW, Sch Med Sci, Fac Med, Dept Pharmacol, Sydney, NSW 2052, Australia.
[Braidy, N.] Univ New S Wales, Sch Psychiat, Fac Med, Sydney, NSW, Australia.
[Guillemin, G. J.] St Vincents Hosp, Peter Duncan Neurosci Unit, St Vincents Ctr Appl Med Res, Sydney, NSW 2010, Australia.
RP Guillemin, GJ (reprint author), Univ NSW, Sch Med Sci, Fac Med, Dept Pharmacol, Sydney, NSW 2052, Australia.
EM g.guillemin@unsw.edu.au
FU Sultan Qaboos University; Research Council; Oman [RC/AGR/FOOD/11/01];
National Health and Medical Research Council (NHMRC); Rebecca Cooper
foundation (Australia); Alzheimer's Australia Viertel Foundation
Postdoctoral Research Fellowship at the University of New South Wales;
[IG/AGR/FOOD/11/02]
FX The project was supported by Sultan Qaboos University; Oman in the form
of internal grant is gratefully acknowledged (IG/AGR/FOOD/11/02) and
also partly supported by the Research Council; Oman (Grant #
RC/AGR/FOOD/11/01) as Post-Doctoral fellowship to Dr. Subash S. The
scholarship given by Sultan Qaboos University to Vijayan KR is
gratefully acknowledged. This work has been also supported by the
National Health and Medical Research Council (NHMRC) and by the Rebecca
Cooper foundation (Australia). Dr. Nady Braidy is the recipient of an
Alzheimer's Australia Viertel Foundation Postdoctoral Research
Fellowship at the University of New South Wales.
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NR 79
TC 17
Z9 18
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1029-8428
EI 1476-3524
J9 NEUROTOX RES
JI Neurotox. Res.
PD MAY
PY 2013
VL 23
IS 4
BP 393
EP 400
DI 10.1007/s12640-012-9354-3
PG 8
WC Neurosciences
SC Neurosciences & Neurology
GA 114TC
UT WOS:000316764400008
PM 23065398
ER
PT J
AU Kong, NY
Carta, JJ
AF Kong, Na Young
Carta, Judith J.
TI Responsive Interaction Interventions for Children With or at Risk for
Developmental Delays: A Research Synthesis
SO TOPICS IN EARLY CHILDHOOD SPECIAL EDUCATION
LA English
DT Article
DE responsiveness; responsive interaction; responsive parenting; young
children with developmental delays; research synthesis
ID PRELINGUISTIC COMMUNICATION INTERVENTIONS; RELATIONSHIP-FOCUSED
INTERVENTION; AUTISM SPECTRUM DISORDERS; LANGUAGE IMPAIRMENT;
EARLY-CHILDHOOD; YOUNG-CHILDREN; INTENTIONAL COMMUNICATION; MATERNAL
BEHAVIORS; SOCIAL-SKILLS; DISABILITIES
AB The purpose of this article is to synthesize the available studies regarding responsive interaction intervention (RII) for children with or at risk for developmental delays with a focus on six dimensions: (a) the characteristics of participants, (b) the features of RII, (c) the measurement of treatment fidelity, (d) the overall effectiveness of RII as reflected by the percentage of studies reporting significant changes in adult or child outcomes, (e) the measurement of maintenance and generalization of RII effects, and (f) the social validity or level of acceptability. Through a search of articles from 1990 to 2010, the authors identified 26 studies (31 articles) employing group experimental or quasiexperimental designs incorporating these dimensions. Overall, the results of the reviewed studies indicated that implementation of RII resulted in significant positive changes in adults' responsive behaviors and children's emotional and social-communicative outcomes. Although the most frequently reported child outcomes were in the social-communication domain, the most consistently significant positive outcomes for parent and child outcomes were in the emotional domain. The authors identify several gaps in this literature and suggest areas where research is needed.
C1 [Kong, Na Young] Univ Kansas, Lawrence, KS 66045 USA.
[Kong, Na Young; Carta, Judith J.] Univ Kansas, Juniper Gardens Childrens Project, Kansas City, KS 66101 USA.
RP Kong, NY (reprint author), Univ Kansas, Juniper Gardens Childrens Project, 444 Minnesota Ave,Suite 300, Kansas City, KS 66101 USA.
EM chellina@ku.edu
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NR 70
TC 3
Z9 3
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0271-1214
J9 TOP EARLY CHILD SPEC
JI Top. Early Child. Spec. Educ.
PD MAY
PY 2013
VL 33
IS 1
BP 4
EP 17
DI 10.1177/0271121411426486
PG 14
WC Education, Special
SC Education & Educational Research
GA 118GD
UT WOS:000317011500001
ER
PT J
AU Hamlyn, J
Duhig, M
McGrath, J
Scott, J
AF Hamlyn, Jess
Duhig, Michael
McGrath, John
Scott, James
TI Modifiable risk factors for schizophrenia and autism - Shared risk
factors impacting on brain development
SO NEUROBIOLOGY OF DISEASE
LA English
DT Review
DE Schizophrenia; Autism; Neurodevelopmental disorder; Epidemiology;
Prevention
ID VITAMIN-D; SPECTRUM DISORDERS; MATERNAL INFECTION; PATERNAL AGE;
CHILDHOOD ADVERSITIES; IMMUNE INVOLVEMENT; PRENATAL EXPOSURE;
METAANALYSIS; PSYCHOSIS; BIRTH
AB Schizophrenia and autism are two poorly understood clinical syndromes that differ in age of onset and clinical profile. However, recent genetic and epidemiological research suggests that these two neurodevelopmental disorders share certain risk factors. The aims of this review are to describe modifiable risk factors that have been identified in both disorders, and, where available, collate salient systematic reviews and meta-analyses that have examined shared risk factors. Based on searches of Medline, Embase and PsycINFO, inspection of review articles and expert opinion, we first compiled a set of candidate modifiable risk factors associated with autism. Where available, we next collated systematic-reviews (with or without meta-analyses) related to modifiable risk factors associated with both autism and schizophrenia. We identified three modifiable risk factors that have been examined in systematic reviews for both autism and schizophrenia. Advanced paternal age was reported as a risk factor for schizophrenia in a single meta-analysis and as a risk factor in two meta-analyses for autism. With respect to pregnancy and birth complications, for autism one meta-analysis identified maternal diabetes and bleeding during pregnancy as risks factors for autism whilst a meta-analysis of eight studies identified obstetric complications as a risk factor for schizophrenia. Migrant status was identified as a risk factor for both autism and schizophrenia. Two separate meta-analyses were identified for each disorder. Despite distinct clinical phenotypes, the evidence suggests that at least some non-genetic risk factors are shared between these two syndromes. In particular, exposure to drugs, nutritional excesses or deficiencies and infectious agents lend themselves to public health interventions. Studies are now needed to quantify any increase in risk of either autism or schizophrenia that is associated with these modifiable environmental factors. (C) 2012 Elsevier Inc. All rights reserved.
C1 [Hamlyn, Jess] Gold Coast Hosp, Southport, Qld 4215, Australia.
[Duhig, Michael; McGrath, John; Scott, James] Queensland Ctr Mental Hlth Res, Pk Ctr Mental Hlth, Wacol, Qld 4075, Australia.
[Duhig, Michael; Scott, James] Univ Queensland, Clin Res Ctr, Brisbane, Qld 4006, Australia.
[McGrath, John; Scott, James] Univ Queensland, Discipline Psychiat, St Lucia, Qld 4067, Australia.
[McGrath, John] Univ Queensland, Queensland Brain Inst, St Lucia, Qld 4067, Australia.
RP Scott, J (reprint author), Royal Brisbane & Womens Hosp, Level 3 UQCCR, Herston, Qld 4029, Australia.
EM james_g_scott@health.qld.gov.au
RI McGrath, John/G-5493-2010; Scott, James/D-5900-2012
OI McGrath, John/0000-0002-4792-6068; Scott, James/0000-0002-0744-0688
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Sandin S, 2012, J AM ACAD CHILD PSY, V51, P477, DOI 10.1016/j.jaac.2012.02.018
Scott J, 2010, ARCH GEN PSYCHIAT, V67, P111, DOI 10.1001/archgenpsychiatry.2009.188
Selten JP, 2005, BRIT J PSYCHIAT, V187, P101, DOI 10.1192/bjp.187.2.101
Sipos A, 2004, BRIT MED J, V329, P1070, DOI 10.1136/bmj.38243.672396.55
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Susser ES, 1992, ARCH GEN PSYCHIAT, V49, P938
NR 70
TC 5
Z9 5
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0969-9961
J9 NEUROBIOL DIS
JI Neurobiol. Dis.
PD MAY
PY 2013
VL 53
SI SI
BP 3
EP 9
DI 10.1016/j.nbd.2012.10.023
PG 7
WC Neurosciences
SC Neurosciences & Neurology
GA 109LX
UT WOS:000316371200002
PM 23123588
ER
PT J
AU Raver, SA
Hester, P
Michalek, AMP
Cho, DN
Anthony, N
AF Raver, Sharon A.
Hester, Peggy
Michalek, Anne M. P.
Cho, Dana
Anthony, Nicole
TI Impact of an Activity Mini-Schedule on the Inattention of Preschoolers
with Cochlear Implants during a Group Activity
SO EDUCATION AND TREATMENT OF CHILDREN
LA English
DT Article
DE Mini-Schedules; Evidence-Based Practice; Preschoolers; Cochlear
Implants; Hearing Loss; Attention
ID PHOTOGRAPHIC ACTIVITY SCHEDULES; VISUAL-ATTENTION; COMMUNICATION
INTERVENTION; CHILDREN; AUTISM; HEARING; SKILLS; AUDITION; DEAF
AB This pilot study evaluated the effectiveness of using an activity mini-schedule which divided a circle time activity into four sub-activities with four preschoolers who were deaf and had received cochlear implants. Often preschoolers with cochlear implants display difficulty directing attention to appropriate stimuli during large group activities (Chute & Nevins, 2003). It was hypothesized that the use of an activity mini-schedule would decrease inattention. Using a multiple baseline design across participants, an activity mini-schedule was introduced to each participant sequentially by a paraeducator who sat behind the children during circle time. Participants' behaviors were videotaped and coded. The introduction of an activity mini-schedule decreased inattention in all participants, yet individual outcomes varied. Although this study offers some evidence that activity mini-schedules may positively impact attention in young children, more research is needed.
C1 [Raver, Sharon A.; Hester, Peggy; Michalek, Anne M. P.; Cho, Dana; Anthony, Nicole] Old Dominion Univ, Norfolk, VA 23529 USA.
RP Raver, SA (reprint author), Old Dominion Univ, Dept Commun Disorders & Special Educ, CSC 208, Norfolk, VA 23529 USA.
EM sraverla@odu.edu
CR Bevill AR, 2001, J EARLY INTERVENTION, V24, P129
Breitfelder L. M., 2008, TEACHING EXCEPTIONAL, V4, P2
Bryan LC, 2000, J AUTISM DEV DISORD, V30, P553, DOI 10.1023/A:1005687310346
Chute PM, 2003, TOP LANG DISORD, V23, P57
DesJardin JL, 2009, J DEAF STUD DEAF EDU, V14, P22, DOI 10.1093/deafed/enn011
Edwards Lindsey, 2006, Cochlear Implants Int, V7, P61, DOI 10.1002/cii.300
Ertmer DJ, 2002, LANG SPEECH HEAR SER, V33, DOI 10.1044/0161-1461(2002/019)
Ertmer DJ, 2002, LANG SPEECH HEAR SER, V33, DOI 10.1044/0161-1461(2002/018)
HALL LJ, 1995, EDUC TRAIN MENT RET, V30, P208
Horn DL, 2005, EAR HEARING, V26, P389, DOI 10.1097/00003446-200508000-00003
Kennedy C, 2005, SINGLE CASE DESIGNS
KRANTZ PJ, 1993, J APPL BEHAV ANAL, V26, P137, DOI 10.1901/jaba.1993.26-137
Lentini R., 2008, CREATING TEACHING TO
MACDUFF GS, 1993, J APPL BEHAV ANAL, V26, P89, DOI 10.1901/jaba.1993.26-89
Massey G. N., 2000, EDUCATION AND TRAINI, V35, P326
McKinley A., 2000, J EARLY INTERVENTION, V23, P252, DOI 10.1177/10538151000230040501
Mitchell TV, 2007, INT J AUDIOL, V46, P500, DOI 10.1080/14992020701383050
Morrison RS, 2002, J EARLY INTERVENTION, V25, P58, DOI 10.1177/105381510202500106
Parker RI, 2007, J SPEC EDUC, V40, P194, DOI 10.1177/00224669070400040101
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Smith LB, 1998, DEV PSYCHOL, V34, P840, DOI 10.1037/0012-1649.34.5.840
Stromer R., 2006, FOCUS AUTISM OTHER D, V21, P14, DOI 10.1177/10883576060210010301
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Tissot C., 2003, EARLY CHILD DEV CARE, V173, P425, DOI 10.1080/0300443032000079104
NR 27
TC 0
Z9 0
PU WEST VIRGINIA UNIV PRESS
PI MORGANTOWN
PA COMMUNICATIONS BLDG PATTESON DR, PO BOX 6295, MORGANTOWN, WV 26506-6295
USA
SN 0748-8491
EI 1934-8924
J9 EDUC TREAT CHILD
JI Educ. Treat. Child.
PD MAY
PY 2013
VL 36
IS 2
BP 15
EP 32
PG 18
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AP0JI
UT WOS:000341747200002
ER
PT J
AU Carlile, KA
Reeve, SA
Reeve, KF
Debar, RM
AF Carlile, Kelly A.
Reeve, Sharon A.
Reeve, Kenneth F.
DeBar, Ruth M.
TI Using Activity Schedules on the iPod touch to Teach Leisure Skills to
Children with Autism
SO EDUCATION AND TREATMENT OF CHILDREN
LA English
DT Article
DE Activity Schedules; Autism; Independence; iPod Touch; Leisure Skills;
Proximity Fading
ID DISABILITIES; CLASSROOM; STUDENTS
AB Although activity schedules are often presented to learners in book form, this format may be cumbersome and socially stigmatizing to a child with autism. Conversely, presenting an activity schedule on an iPod touch may provide a more socially acceptable format, in that it would be more discreet and allow for easy portability, especially if supports, such as prompts and an adult's presence, are eventually removed. The present study investigated whether an iPod touch could be used to effectively teach activity schedule following involving independent leisure activities to four children with autism. Manual prompts, progressive time-delay procedures, and reinforcement were also used. Prompts were faded using a progressive time-delay procedure, and experimenter proximity to the participants was faded until she was no longer present. A multiple-probe-across-participants design was used. Prior to intervention, none of the participants followed the schedule and they rarely engaged in on-task behavior. Following intervention, all participants learned to independently follow leisure activity schedules presented on the iPod touch and increased their on-task behavior. In addition, these skills generalized to novel settings and novel schedules, and maintained over time. Social validity measures suggested that the participants preferred to follow activity schedules using the iPod touch. Community members also rated the use of the device as more typical of age-related peers and more socially acceptable in the community. The implications of incorporating technology to increase independence in children with autism are discussed.
C1 [Carlile, Kelly A.; Reeve, Sharon A.; Reeve, Kenneth F.; DeBar, Ruth M.] Caldwell Coll, Caldwell, NJ 07006 USA.
RP Reeve, SA (reprint author), Caldwell Coll, Dept Appl Behav Anal, 120 Bloomfield Ave, Caldwell, NJ 07006 USA.
EM sreeve@caldwell.edu
CR Blood E., 2011, EDUC TREAT CHILD, V34, P299
Caldwell L. L., 2001, Therapeutic Recreation Journal, V35, P236
Carr JE, 2000, J APPL BEHAV ANAL, V33, P353, DOI 10.1901/jaba.2000.33-353
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Hammond DL, 2010, EDUC TRAIN AUTISM DE, V45, P525
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Kagohara D. M., 2011, J BEHAV ED, V20, P33, DOI 10.1007/s10864-010-9115-4
Kagohara D. M., 2010, CLIN CASE STUDIES, V9, P328, DOI DOI 10.1177/1534650110379633
Kimball J., 2004, ED TREATMENT CHILDRE, V27, P280
MACDUFF GS, 1993, J APPL BEHAV ANAL, V26, P89, DOI 10.1901/jaba.1993.26-89
Massey NG, 2000, EDUC TRAIN MENT RET, V35, P326
McClannahan L. E., 1999, ACTIVITY SCHEDULES C
Reeve S. A., 2010, EDUC TREAT CHILD, V33, P351, DOI DOI 10.1353/ETC.0.0103
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SCHLEIEN SJ, 1981, J APPL BEHAV ANAL, V14, P513, DOI 10.1901/jaba.1981.14-513
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NR 21
TC 3
Z9 3
PU WEST VIRGINIA UNIV PRESS
PI MORGANTOWN
PA COMMUNICATIONS BLDG PATTESON DR, PO BOX 6295, MORGANTOWN, WV 26506-6295
USA
SN 0748-8491
EI 1934-8924
J9 EDUC TREAT CHILD
JI Educ. Treat. Child.
PD MAY
PY 2013
VL 36
IS 2
BP 33
EP 57
PG 25
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AP0JI
UT WOS:000341747200003
ER
PT J
AU Green, VA
Drysdale, H
Boelema, T
Smart, E
van der Meer, L
Achmadi, D
Prior, T
O'Reilly, M
Diddert, R
Lancioni, G
AF Green, Vanessa A.
Drysdale, Heather
Boelema, Tanya
Smart, Emily
van der Meer, Larah
Achmadi, Donna
Prior, Tessa
O'Reilly, Mark
Diddert, Robert
Lancioni, Guilio
TI Use of Video Modeling to Increase Positive Peer Interactions of Four
Preschool Children with Social Skills Difficulties
SO EDUCATION AND TREATMENT OF CHILDREN
LA English
DT Article
DE Pre-School Children; Social Skills; Play; Video Modeling; Peer Group
Entry; Social Withdrawal
ID AUTISM SPECTRUM DISORDERS; ALTERNATIVE TREATMENTS; INTERVENTIONS;
METAANALYSIS; BEHAVIOR; ACCEPTABILITY; EFFICACY; RESPONSIVENESS;
ADOLESCENTS; COMPETENCE
AB Difficulties initiating and maintaining positive social interactions with peers represents a significant problem for many preschool children. The present study sought to evaluate the use of a video modeling intervention for increasing positive peer interactions among four preschool boys who were assessed as having poor social skills. The video modeling intervention was evaluated in a delayed multiple probe across participants design. The video depicted successful entry of a peer in a play routine and maintenance of positive play behavior by the peer. Positive outcomes were achieved for two participants and variable outcomes for the remaining two children. Teachers and parents rated the intervention as acceptable. The results suggest an improvement in the amount of time engaged in positive social interactions with peers for two of the four participants with the onset of the video modeling intervention. The findings are discussed in relation to implications for early childhood practice and future research in the area.
C1 [Green, Vanessa A.; Drysdale, Heather; Boelema, Tanya; Smart, Emily; van der Meer, Larah; Achmadi, Donna; Prior, Tessa] Victoria Univ Wellington, Wellington, New Zealand.
[O'Reilly, Mark] Univ Texas Austin, Austin, TX 78712 USA.
[Diddert, Robert] Radboud Univ Nijmegen, NL-6525 ED Nijmegen, Netherlands.
[Lancioni, Guilio] Univ Bari, I-70121 Bari, Italy.
RP Green, VA (reprint author), Victoria Univ Wellington, Sch Educ Psychol & Pedag, POB 17-310, Wellington, New Zealand.
EM vanessa.green@vuw.ac.nz
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NR 56
TC 0
Z9 0
PU WEST VIRGINIA UNIV PRESS
PI MORGANTOWN
PA COMMUNICATIONS BLDG PATTESON DR, PO BOX 6295, MORGANTOWN, WV 26506-6295
USA
SN 0748-8491
EI 1934-8924
J9 EDUC TREAT CHILD
JI Educ. Treat. Child.
PD MAY
PY 2013
VL 36
IS 2
BP 59
EP 85
PG 27
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AP0JI
UT WOS:000341747200004
ER
PT J
AU Carbone, VJ
O'Brien, L
Sweeney-Kerwin, EJ
Albert, KM
AF Carbone, Vincent J.
O'Brien, Leigh
Sweeney-Kerwin, Emily J.
Albert, Kristin M.
TI Teaching Eye Contact to Children with Autism: A Conceptual Analysis and
Single Case Study
SO EDUCATION AND TREATMENT OF CHILDREN
LA English
DT Article
DE Eye Contact; Social Skills; Mands; Extinction; Autism; Motivating
Operations
ID INDUCED RESPONSE VARIABILITY; SOCIAL-COMMUNICATIVE SKILLS; JOINT
ATTENTION; DEVELOPMENTAL-DISABILITIES; GAZE BEHAVIOR; EXTINCTION;
LANGUAGE; INTERVENTION; ADOLESCENTS; STRATEGIES
AB Eye contact occurs very early in development and serves many functions for the young child. It has been implicated in the development of social, cognitive, and language skills. A substantial number of children with autism fail to develop this important skill and therefore experimenters with both developmental and behavior analytic perspectives have researched methods to teach eye contact. However, only a few researchers have recently attempted to condition the response of the communication partner as a reinforcer for social behavior and thereby arrange the conditions under which typical children develop social responses. The purpose of this case study was to extend the analysis of typical development of social skills to the teaching of eye contact as a language pragmatic skill to a child with autism. Data from a single case study of a child with autism are provided.
C1 [Carbone, Vincent J.; O'Brien, Leigh; Sweeney-Kerwin, Emily J.; Albert, Kristin M.] Carbone Clin, Valley Cottage, NY 10989 USA.
RP Carbone, VJ (reprint author), Carbone Clin, 614 Corp Way,Suite 1, Valley Cottage, NY 10989 USA.
EM drvjc@aol.com
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NR 52
TC 0
Z9 0
PU WEST VIRGINIA UNIV PRESS
PI MORGANTOWN
PA COMMUNICATIONS BLDG PATTESON DR, PO BOX 6295, MORGANTOWN, WV 26506-6295
USA
SN 0748-8491
EI 1934-8924
J9 EDUC TREAT CHILD
JI Educ. Treat. Child.
PD MAY
PY 2013
VL 36
IS 2
BP 139
EP 159
PG 21
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AP0JI
UT WOS:000341747200008
ER
PT J
AU Cox, A
Taliercio, A
Zacharyczuk, C
AF Cox, Amber
Taliercio, Adam
Zacharyczuk, Colleen
TI Additional CDC Data Dispell Vaccine-Autism Link
SO PEDIATRIC ANNALS
LA English
DT Editorial Material
CR DeStefano F, 2013, J PEDIATR-US, V163, P561, DOI 10.1016/j.jpeds.2013.02.001
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 MAY
PY 2013
VL 42
IS 5
BP 178
EP 178
PG 1
WC Pediatrics
SC Pediatrics
GA 186ZD
UT WOS:000322083600006
ER
PT J
AU Stein, LI
Polido, JC
Cermak, SA
AF Stein, Leah I.
Polido, Jose C.
Cermak, Sharon A.
TI Oral Care and Sensory Over-responsivity in Children with Autism Spectrum
Disorders
SO PEDIATRIC DENTISTRY
LA English
DT Article
DE AUTISM SPECTRUM DISORDER; SENSORY DISORDERS; DENTAL CARE FOR DISABLED;
OCCUPATIONAL THEARPY; ACCESS TO HEALTH CARE
ID PROCESSING DISORDERS; YOUNG-CHILDREN; TYPICAL DEVELOPMENT;
MENTAL-RETARDATION; INTEGRATION; DESENSITIZATION; ABNORMALITIES;
PREVALENCE; BEHAVIORS; PATTERNS
AB Purpose: The purpose of this study was to investigate the relationship between sensory sensitivities and oral care difficulties in children with autism spectrum disorders (ASDs) or typical development (TD). Methods: Participants included 396 parents of 2- to 18-year-old children with ASDs or TD who completed a questionnaire about oral care in the home and dental office. Descriptive and bivariate analyses were conducted to examine the association between sensory sensitivities and oral care variables. Results: Both hypotheses were supported: (1) ASDs children vs. TD children were reported to have a significantly greater prevalence of sensory over-responsivity across all sensory domains; and (2) ASDs children characterized as "sensory over-responders" exhibited a significantly greater prevalence of oral care difficulty in the home and dental office vs. ASDs children who responded more typically to sensory stimuli ("sensory not over-responders"). Conclusions: This study provides further evidence for the impact of sensory processing problems on oral care, both in the home and dental office. Methods to best serve children with autism spectrum disorders may include strategies that alter the sensory characteristics of the dental environment as well as interventions to reduce children's sensory sensitivities.
C1 [Stein, Leah I.; Cermak, Sharon A.] Univ So Calif, Herman Ostrow Sch Dent, Div Occupat Sci & Occupat Therapy, Los Angeles, CA USA.
[Polido, Jose C.] Univ So Calif, Herman Ostrow Sch Dent, Div Dent, Childrens Hosp Los Angeles, Los Angeles, CA USA.
RP Stein, LI (reprint author), Univ So Calif, Herman Ostrow Sch Dent, Div Occupat Sci & Occupat Therapy, Los Angeles, CA USA.
EM lstein@usc.edu
CR Ahn RR, 2004, AM J OCCUP THER, V58, P287
American Academy of Pediatric Dentistry, GUID BEH GUID PED DE
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NR 55
TC 3
Z9 3
PU AMER ACAD PEDIATRIC DENTISTRY
PI CHICAGO
PA 211 E CHICAGO AVENUE SUITE 1036, CHICAGO, IL 60611-2616 USA
SN 0164-1263
EI 1942-5473
J9 PEDIATR DENT
JI Pediatr. Dent.
PD MAY-JUN
PY 2013
VL 35
IS 3
BP 230
EP 235
PG 6
WC Dentistry, Oral Surgery & Medicine; Pediatrics
SC Dentistry, Oral Surgery & Medicine; Pediatrics
GA AS8TL
UT WOS:000344520800002
PM 23756306
ER
PT J
AU Oranje, B
Lahuis, B
van Engeland, H
van der Gaag, RJ
Kemner, C
AF Oranje, Bob
Lahuis, Bertine
van Engeland, Herman
van der Gaag, Rutger Jan
Kemner, Chantal
TI Sensory and sensorimotor gating in children with multiple complex
developmental disorders (MCDD) and autism
SO PSYCHIATRY RESEARCH
LA English
DT Article
DE Auditory evoked responses; P50 suppression; Prepulse inhibition (PPI);
Startle reflex
ID PREPULSE INHIBITION; SCHIZOPHRENIC-PATIENTS; 1ST-EPISODE SCHIZOPHRENIA;
ANTIPSYCHOTIC-NAIVE; BORDERLINE SYNDROME; P50; STARTLE; SUPPRESSION;
CLASSIFICATION; ABNORMALITIES
AB Multiple Complex Developmental Disorder (MCDD) is a well-defined and validated behavioral subtype of autism with a proposed elevated risk of developing a schizophrenic spectrum disorder. The current study investigated whether children with MCDD show the same deficits in sensory gating that are commonly reported in schizophrenia, or whether they are indistinguishable from children with autism in this respect. P50 suppression and prepulse inhibition (PPI) of the startle reflex were assessed in children with MCDD (n=14) or autism (n=13), and healthy controls (n=12), matched on age and IQ. All subjects showed high levels of PPI and P50 suppression. However, no group differences were found. No abnormalities in sensory filtering could be detected in children with autism or MCDD. Since sensory gating deficits are commonly regarded as possible endophenotypic markers for schizophrenia, the current results do not support a high level of similarity between schizophrenia and MCDD. (C) 2012 Elsevier Ireland Ltd. All rights reserved.
C1 [Oranje, Bob] Copenhagen Univ Hosp, Ctr Clin Intervent & Neuropsychiat Schizophrenia, Univ Psychiat Ctr Glostrup, DK-2600 Glostrup, Denmark.
[Oranje, Bob] Univ Copenhagen, Fac Hlth Sci, Dept Neurol Psychiat & Sensory Sci, DK-1168 Copenhagen, Denmark.
[Lahuis, Bertine; van Engeland, Herman; Kemner, Chantal] Univ Med Ctr, Dept Child & Adolescent Psychiat, Utrecht, Netherlands.
[van der Gaag, Rutger Jan] Univ Med Ctr, Nijmegen, Netherlands.
[Kemner, Chantal] Univ Utrecht, Dept Dev Psychol, NL-3508 TC Utrecht, Netherlands.
RP Oranje, B (reprint author), Copenhagen Univ Hosp, Ctr Clin Intervent & Neuropsychiat Schizophrenia, Univ Psychiat Ctr Glostrup, Ndr Ringvej 29-67, DK-2600 Glostrup, Denmark.
EM B.Oranje@cnsr.dk
RI Gaag, R.J./H-8030-2014
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NR 45
TC 6
Z9 7
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 APR 30
PY 2013
VL 206
IS 2-3
BP 287
EP 292
DI 10.1016/j.psychres.2012.10.014
PG 6
WC Psychiatry
SC Psychiatry
GA 129ZK
UT WOS:000317882300023
PM 23164481
ER
PT J
AU Westmark, CJ
AF Westmark, Cara J.
TI FMRP: a triple threat to PSD-95
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Editorial Material
ID MENTAL-RETARDATION PROTEIN; AUTISM SPECTRUM DISORDERS; GENES;
DEGRADATION
C1 Univ Wisconsin, Dept Neurol, Madison, WI 53706 USA.
RP Westmark, CJ (reprint author), Univ Wisconsin, Dept Neurol, Madison, WI 53706 USA.
EM westmark@wisc.edu
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NR 24
TC 2
Z9 2
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 APR 30
PY 2013
VL 7
AR 57
DI 10.3389/fncel.2013.00057
PG 3
WC Neurosciences
SC Neurosciences & Neurology
GA 134NR
UT WOS:000318218200001
PM 23641197
ER
PT J
AU Bozdagi, O
Tavassoli, T
Buxbaum, JD
AF Bozdagi, Ozlem
Tavassoli, Teresa
Buxbaum, Joseph D.
TI Insulin-like growth factor-1 rescues synaptic and motor deficits in a
mouse model of autism and developmental delay
SO MOLECULAR AUTISM
LA English
DT Article
DE Pharmacotherapy; Personalized medicine; Individualized medicine; 22q13
deletion syndrome; Phelan-McDermid syndrome
ID MUTANT MICE; SHANK3
AB Background: Haploinsufficiency of SHANK3, due to either hemizygous gene deletion (termed 22q13 deletion syndrome or Phelan-McDermid syndrome) or to gene mutation, accounts for about 0.5% of the cases of autism spectrum disorder (ASD) and/or developmental delay, and there is evidence for a wider role for SHANK3 and glutamate signaling abnormalities in ASD and related conditions. Therapeutic approaches that reverse deficits in SHANK3-haploinsufficiency may therefore be broadly beneficial in ASD and in developmental delay.
Findings: We observed that daily intraperitoneal injections of human insulin-like growth factor 1 (IGF-1) over a 2-week period reversed deficits in hippocampal alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) signaling, long-term potentiation (LTP), and motor performance that we had previously reported in Shank3-deficient mice. Positive effects were observed with an IGF-1 peptide derivative as well.
Conclusions: We observed significant beneficial effects of IGF-1 in a mouse model of ASD and of developmental delay. Studies in mouse and human neuronal models of Rett syndrome also show benefits with IGF-1, raising the possibility that this compound may have benefits broadly in ASD and related conditions, even with differing molecular etiology. Given the extensive safety data for IGF-1 in children with short stature due to primary IGF-1 deficiency, IGF-1 is an attractive candidate for controlled clinical trials in SHANK3-deficiency and in ASD.
C1 [Bozdagi, Ozlem; Tavassoli, Teresa; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY USA.
[Bozdagi, Ozlem; Tavassoli, Teresa; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY USA.
RP Buxbaum, JD (reprint author), Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY USA.
EM joseph.buxbaum@mssm.edu
FU Seaver Foundation; Simons Foundation; NIMH [R01MH093725]
FX This work was supported by the Seaver Foundation, the Simons Foundation,
the NIMH (grant R01MH093725 to JDB), and by a gift from William Gibson
and Paulina Rychenkova, PhD. We thank Catalina Betancur for helpful
comments. Aspects of this work were presented at annual meetings of The
Society for Neuroscience (2010, 2011) and the American Society of Human
Genetics (2010), and at Phelan-McDermid Syndrome symposia (2011, 2012).
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NR 15
TC 13
Z9 13
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 APR 27
PY 2013
VL 4
AR 9
DI 10.1186/2040-2392-4-9
PG 4
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA 254UT
UT WOS:000327194300001
PM 23621888
ER
PT J
AU Norton, WHJ
AF Norton, William H. J.
TI Toward developmental models of psychiatric disorders in zebrafish
SO FRONTIERS IN NEURAL CIRCUITS
LA English
DT Review
DE zebrafish; psychiatric disorders; development;
attention-deficit/hyperactivity disorder; autism spectrum disorder;
schizophrenia; mental retardation
ID ATTENTION-DEFICIT HYPERACTIVITY; DOPAMINE TRANSPORTER GENE; AUTISM
SPECTRUM DISORDERS; FRAGILE-X-SYNDROME; DE-NOVO MUTATIONS;
DEFICIT/HYPERACTIVITY DISORDER; LARVAL ZEBRAFISH; DANIO-RERIO;
LOCOMOTOR-ACTIVITY; BRAIN-DEVELOPMENT
AB Psychiatric disorders are a diverse set of diseases that affect all aspects of mental function including social interaction, thinking, feeling, and mood. Although psychiatric disorders place a large economic burden on society, the drugs available to treat them are often palliative with variable efficacy and intolerable side-effects. The development of novel drugs has been hindered by a lack of knowledge about the etiology of these diseases. It is thus necessary to further investigate psychiatric disorders using a combination of human molecular genetics, gene-by-environment studies, in vitro pharmacological and biochemistry experiments, animal models, and investigation of the non-biological basis of these diseases, such as environmental effects. Many psychiatric disorders, including autism spectrum disorder, attention-deficit/hyperactivity disorder, mental retardation, and schizophrenia can be triggered by alterations to neural development. The zebrafish is a popular model for developmental biology that is increasingly used to study human disease. Recent work has extended this approach to examine psychiatric disorders as well. However, since psychiatric disorders affect complex mental functions that might be human specific, it is not possible to fully model them in fish. In this review, I will propose that the suitability of zebrafish for developmental studies, and the genetic tools available to manipulate them, provide a powerful model to study the roles of genes that are linked to psychiatric disorders during neural development. The relative speed and ease of conducting experiments in zebrafish can be used to address two areas of future research: the contribution of environmental factors to disease onset, and screening for novel therapeutic compounds.
C1 Univ Leicester, Coll Med Biol Sci & Psychiat, Dept Biol, Leicester LE1 7RH, Leics, England.
RP Norton, WHJ (reprint author), Univ Leicester, Coll Med Biol Sci & Psychiat, Dept Biol, Univ Rd, Leicester LE1 7RH, Leics, England.
EM whjn1@le.ac.uk
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NR 155
TC 14
Z9 14
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5110
J9 FRONT NEURAL CIRCUIT
JI Front. Neural Circuits
PD APR 26
PY 2013
VL 7
AR 79
DI 10.3389/fncir.2013.00079
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA 143JN
UT WOS:000318863800001
PM 23637652
ER
PT J
AU Cooper, NR
Simpson, A
Till, A
Simmons, K
Puzzo, I
AF Cooper, Nicholas R.
Simpson, Andrew
Till, Amy
Simmons, Kelly
Puzzo, Ignazio
TI Beta event-related desynchronization as an index of individual
differences in processing human facial expression: further
investigations of autistic traits in typically developing adults
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE alpha; beta; mu; EEG; ERD; autism; emotion
ID MIRROR-NEURON SYSTEM; PRIMARY MOTOR CORTEX; MU-RHYTHM; SENSORIMOTOR
CORTEX; SPECTRUM DISORDERS; ALPHA OSCILLATIONS; GENERAL-POPULATION; EEG;
FACE; IMITATION
AB The human mirror neuron system (hMNS) has been associated with various forms of social cognition and affective processing including vicarious experience. It has also been proposed that a faulty hMNS may underlie some of the deficits seen in the autism spectrum disorders (ASDs). In the present study we set out to investigate whether emotional facial expressions could modulate a putative EEG index of hMNS activation (mu suppression) and if so, would this differ according to the individual level of autistic traits [high versus low Autism Spectrum Quotient (AQ) score]. Participants were presented with 3s films of actors opening and closing their hands (classic hMNS mu-suppression protocol) while simultaneously wearing happy, angry, or neutral expressions. Mu-suppression was measured in the alpha and low beta bands. The low AQ group displayed greater low beta event-related desynchronization (ERD) to both angry and neutral expressions. The high AQ group displayed greater low beta ERD to angry than to happy expressions. There was also significantly more low beta ERD to happy faces for the low than for the high AQ group. In conclusion, an interesting interaction between AQ group and emotional expression revealed that hMNS activation can be modulated by emotional facial expressions and that this is differentiated according to individual differences in the level of autistic traits. The EEG index of hMNS activation (mu suppression) seems to be a sensitive measure of the variability in facial processing in typically developing individuals with high and low self-reported traits of autism.
C1 [Cooper, Nicholas R.; Simpson, Andrew; Till, Amy; Simmons, Kelly] Univ Essex, Dept Psychol, Ctr Brain Sci, Colchester CO4 3SQ, Essex, England.
[Puzzo, Ignazio] Univ Reading, Sch Psychol & Clin Language Sci, Ctr Integrat Neurosci & Neurodynam, Reading, Berks, England.
RP Cooper, NR (reprint author), Univ Essex, Dept Psychol, Ctr Brain Sci, Wivenhoe Pk, Colchester CO4 3SQ, Essex, England.
EM ncooper@essex.ac.uk
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NR 77
TC 6
Z9 6
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 APR 25
PY 2013
VL 7
AR 159
DI 10.3389/fnhum.2013.00159
PG 8
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA 136CI
UT WOS:000318337100001
PM 23630489
ER
PT J
AU Chen, CP
Lin, CJ
Chang, TY
Chern, SR
Wu, PS
Chen, YT
Su, JW
Lee, CC
Chen, LF
Wang, W
AF Chen, Chih-Ping
Lin, Chen-Ju
Chang, Tung-Yao
Chern, Schu-Rern
Wu, Peih-Shan
Chen, Yu-Ting
Su, Jun-Wei
Lee, Chen-Chi
Chen, Li-Feng
Wang, Wayseen
TI Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3
and 2q37.3 microdeletions detected using array comparative genomic
hybridization
SO GENE
LA English
DT Article
DE 2p25.3 deletion; 2q37.3 deletion; Lissencephaly; Ring chromosome 2
ID MOLECULAR CYTOGENETIC CHARACTERIZATION; MENTAL-RETARDATION SYNDROME;
INTELLECTUAL DISABILITY; DELETION; PATIENT; AUTISM; FISH; DUPLICATION;
MOSAICISM; MONOSOMY
AB We present rapid aneuploidy diagnosis of ring chromosome 2 with 2p25.3 and 2q37.3 microdeletions by aCGH using uncultured amniocytes in a fetus with IUGR, microcephaly, lissencephaly and ambiguous external genitalia. Our case adds lissencephaly to the list of CNS abnormalities in ring chromosome 2 with 2p25.3 and 2q37.3 microdeletions. We discuss the consequence of haploinsufficiency of HDAC4, KIF1A, PASK, HDLBP, FRAP2 and D2HGDH on 2q37.3, and haploinsufficiency of MYT1L, SNTG2 and TPO on 2p25.3 in this case. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Chen, Chih-Ping; Lin, Chen-Ju; Su, Jun-Wei; Lee, Chen-Chi; Chen, Li-Feng] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan.
[Chen, Chih-Ping; Chern, Schu-Rern; Chen, Yu-Ting; Wang, Wayseen] Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan.
[Chen, Chih-Ping] Mackay Med Coll, Dept Med, New Taipei City, Taiwan.
[Chen, Chih-Ping] Asia Univ, Dept Biotechnol, Taichung, Taiwan.
[Chen, Chih-Ping] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan.
[Chen, Chih-Ping] Natl Yang Ming Univ, Inst Clin & Community Hlth Nursing, Taipei 112, Taiwan.
[Chen, Chih-Ping] Natl Yang Ming Univ, Dept Obstet & Gynecol, Sch Med, Taipei 112, Taiwan.
[Chang, Tung-Yao] Taiji Fetal Med Ctr, Taipei, Taiwan.
[Wu, Peih-Shan] Gene Biodesign Co Ltd, Taipei, Taiwan.
[Su, Jun-Wei] China Med Univ Hosp, Dept Obstet & Gynecol, Taichung, Taiwan.
[Wang, Wayseen] Tatung Univ, Dept Bioengn, Taipei 104, Taiwan.
RP Chen, CP (reprint author), Mackay Mem Hosp, Dept Obstet & Gynecol, 92,Sect 2,Chung Shan North Rd, Taipei, Taiwan.
EM cpc_mmh@yahoo.com
FU National Science Council [NSC-99-2628-B-195-001-MY3,
NSC-101-2314-B-195-011-MY3]; Mackay Memorial Hospital, Taipei, Taiwan
[MMH-E-101-04]
FX This work was supported by research grants NSC-99-2628-B-195-001-MY3 and
NSC-101-2314-B-195-011-MY3 from the National Science Council and
MMH-E-101-04 from Mackay Memorial Hospital, Taipei, Taiwan.
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NR 26
TC 4
Z9 4
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
J9 GENE
JI Gene
PD APR 25
PY 2013
VL 519
IS 1
BP 164
EP 168
DI 10.1016/j.gene.2013.01.055
PG 5
WC Genetics & Heredity
SC Genetics & Heredity
GA 123FR
UT WOS:000317374300024
PM 23403238
ER
PT J
AU McTighe, SM
Neal, SJ
Lin, Q
Hughes, ZA
Smith, DG
AF McTighe, Stephanie M.
Neal, Sarah J.
Lin, Qian
Hughes, Zoe A.
Smith, Daniel G.
TI The BTBR Mouse Model of Autism Spectrum Disorders Has Learning and
Attentional Impairments and Alterations in Acetylcholine and Kynurenic
Acid in Prefrontal Cortex
SO PLOS ONE
LA English
DT Article
ID T PLUS TF/J; REACTION-TIME-TASK; COMPUTER-GRAPHIC STIMULI;
DEFICIT/HYPERACTIVITY DISORDER; CEREBROSPINAL-FLUID; UNUSUAL REPERTOIRE;
BASAL FOREBRAIN; T+TF/J MICE; RAT; LESIONS
AB Autism is a complex spectrum of disorders characterized by core behavioral deficits in social interaction, communication, repetitive stereotyped behaviors and restricted interests. Autism frequently presents with additional cognitive symptoms, including attentional deficits and intellectual disability. Preclinical models are important tools for studying the behavioral domains and biological underpinnings of autism, and potential treatment targets. The inbred BTBR T+tf/J (BTBR) mouse strain has been used as an animal model of core behavioral deficits in autism. BTBR mice exhibit repetitive behaviors and deficits in sociability and communication, but other aspects of their cognitive phenotype, including attentional performance, are not well characterized. We examined the attentional abilities of BTBR mice in the 5-choice serial reaction time task (5-CSRTT) using an automated touchscreen testing apparatus. The 5-CSRTT is an analogue of the human continuous performance task of attention, and so both the task and apparatus have translational relevance to human touchscreen cognitive testing. We also measured basal extracellular levels of a panel of neurotransmitters within the medial prefrontal cortex, a brain region critically important for performing the 5-CSRTT. We found that BTBR mice have increased impulsivity, defined as an inability to withhold responding, and decreased motivation, as compared to C57Bl/6J mice. Both of these features characterize attentional deficit disorders in humans. BTBR mice also display decreased accuracy in detecting short stimuli, lower basal levels of extracellular acetylcholine and higher levels of kynurenic acid within the prefrontal cortex. Intact cholinergic transmission in prefrontal cortex is required for accurate performance of the 5-CSRTT, consequently this cholinergic deficit may underlie less accurate performance in BTBR mice. Based on our findings that BTBR mice have attentional impairments and alterations in a key neural substrate of attention, we propose that they may be valuable for studying mechanisms for treatment of cognitive dysfunction in individuals with attention deficits and autism.
C1 [McTighe, Stephanie M.; Neal, Sarah J.; Lin, Qian; Hughes, Zoe A.; Smith, Daniel G.] Pfizer Global Res & Dev, Neurosci Res Unit, Cambridge, MA USA.
RP McTighe, SM (reprint author), Pfizer Global Res & Dev, Neurosci Res Unit, Cambridge, MA USA.
EM Stephanie.McTighe@pfizer.com; Daniel.Smith@autismspeaks.org
RI sebastianovitsch, stepan/G-8507-2013
FU Pfizer Inc.
FX SMM, SJN, QL and ZAH are current employees of Pfizer Inc., whose company
funded this study. DGS was an employee of Pfizer Inc. at the time of the
study. There are no patents, products in development or marketed
products to declare. This does not alter the authors' adherence to all
the PLOS ONE policies on sharing data and materials.
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TC 14
Z9 15
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 APR 24
PY 2013
VL 8
IS 4
AR e62189
DI 10.1371/journal.pone.0062189
PG 11
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 136DE
UT WOS:000318340400085
PM 23638000
ER
PT J
AU Lee, D
AF Lee, Daeyeol
TI Decision Making: From Neuroscience to Psychiatry
SO NEURON
LA English
DT Review
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY
DISORDER; AUTISM SPECTRUM DISORDERS; MEDIAL PREFRONTAL CORTEX; BRAINS
DEFAULT NETWORK; DISSOCIABLE NEURAL REPRESENTATIONS; TEMPORALLY
DISCOUNTED VALUES; ANTERIOR CINGULATE CORTEX; EPISODIC FUTURE THINKING;
MULTIPLE MEMORY-SYSTEMS
AB Adaptive behaviors increase the likelihood of survival and reproduction and improve the quality of life. However, it is often difficult to identify optimal behaviors in real life due to the complexity of the decision maker's environment and social dynamics. As a result, although many different brain areas and circuits are involved in decision making, evolutionary and learning solutions adopted by individual decision makers sometimes produce suboptimal outcomes. Although these problems are exacerbated in numerous neurological and psychiatric disorders, their underlying neurobiological causes remain incompletely understood. In this review, theoretical frameworks in economics and machine learning and their applications in recent behavioral and neurobiological studies are summarized. Examples of such applications in clinical domains are also discussed for substance abuse, Parkinson's disease, attention-deficit/hyperactivity disorder, schizophrenia, mood disorders, and autism. Findings from these studies have begun to lay the foundations necessary to improve diagnostics and treatment for various neurological and psychiatric disorders.
C1 Yale Univ, Sch Med, Dept Neurobiol, New Haven, CT 06510 USA.
RP Lee, D (reprint author), Yale Univ, Sch Med, Dept Neurobiol, 333 Cedar St, New Haven, CT 06510 USA.
EM daeyeol.lee@yale.edu
RI Lee, Daeyeol/A-6794-2008
OI Lee, Daeyeol/0000-0003-3474-019X
FU National Institute of Health [DA029330, DA027844]
FX I am grateful to Amy Arnsten, Min Whan Jung, Matt Kleinman, Ifat Levy,
Mike Petrowicz, Joey Schnurr, and Hyojung Seo for their helpful comments
on the manuscript. The author's research is supported by the National
Institute of Health (DA029330 and DA027844).
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Yin HH, 2006, NAT REV NEUROSCI, V7, P464, DOI 10.1038/nrn1919
Yoshida W, 2010, J NEUROSCI, V30, P8815, DOI 10.1523/JNEUROSCI.0400-10.2010
Zeki S, 2004, PHILOS T R SOC B, V359, P1661, DOI 10.1098/rstb.2004.1553
Zhu LS, 2012, P NATL ACAD SCI USA, V109, P1419, DOI 10.1073/pnas.1116783109
NR 263
TC 15
Z9 15
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0896-6273
EI 1097-4199
J9 NEURON
JI Neuron
PD APR 24
PY 2013
VL 78
IS 2
BP 233
EP 248
DI 10.1016/j.neuron.2013.04.008
PG 16
WC Neurosciences
SC Neurosciences & Neurology
GA 134HY
UT WOS:000318202200005
PM 23622061
ER
PT J
AU Christensen, J
Gronborg, TK
Sorensen, MJ
Schendel, D
Parner, ET
Pedersen, LH
Vestergaard, M
AF Christensen, Jakob
Gronborg, Therese Koops
Sorensen, Merete Juul
Schendel, Diana
Parner, Erik Thorlund
Pedersen, Lars Henning
Vestergaard, Mogens
TI Prenatal Valproate Exposure and Risk of Autism Spectrum Disorders and
Childhood Autism
SO JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
LA English
DT Article
ID BEHAVIORAL ALTERATIONS; ANTIEPILEPTIC DRUGS; ANIMAL-MODEL; ACID;
CHILDREN; REGISTRATION; PREGNANCY; MALFORMATIONS; VALIDATION; EPILEPSY
AB Importance Valproate is used for the treatment of epilepsy and other neuropsychological disorders and may be the only treatment option for women of childbearing potential. However, prenatal exposure to valproate may increase the risk of autism.
Objective To determine whether prenatal exposure to valproate is associated with an increased risk of autism in offspring.
Design, Setting, and Participants Population-based study of all children born alive in Denmark from 1996 to 2006. National registers were used to identify children exposed to valproate during pregnancy and diagnosed with autism spectrum disorders (childhood autism [autistic disorder], Asperger syndrome, atypical autism, and other or unspecified pervasive developmental disorders). We analyzed the risks associated with all autism spectrum disorders as well as childhood autism. Data were analyzed by Cox regression adjusting for potential confounders (maternal age at conception, paternal age at conception, parental psychiatric history, gestational age, birth weight, sex, congenital malformations, and parity). Children were followed up from birth until the day of autism spectrum disorder diagnosis, death, emigration, or December 31, 2010, whichever came first.
Main Outcomes and Measures Absolute risk (cumulative incidence) and the hazard ratio (HR) of autism spectrum disorder and childhood autism in children after exposure to valproate in pregnancy.
Results Of 655 615 children born from 1996 through 2006, 5437 were identified with autism spectrum disorder, including 2067 with childhood autism. The mean age of the children at end of follow-up was 8.84 years (range, 4-14; median, 8.85). The estimated absolute risk after 14 years of follow-up was 1.53% (95% CI, 1.47%-1.58%) for autism spectrum disorder and 0.48% (95% CI, 0.46%-0.51%) for childhood autism. Overall, the 508 children exposed to valproate had an absolute risk of 4.42% (95% CI, 2.59%-7.46%) for autism spectrum disorder (adjusted HR, 2.9 [95% CI, 1.7-4.9]) and an absolute risk of 2.50% (95% CI, 1.30%-4.81%) for childhood autism (adjusted HR, 5.2 [95% CI, 2.7-10.0]). When restricting the cohort to the 6584 children born to women with epilepsy, the absolute risk of autism spectrum disorder among 432 children exposed to valproate was 4.15% (95% CI, 2.20%-7.81%) (adjusted HR, 1.7 [95% CI, 0.9-3.2]), and the absolute risk of childhood autism was 2.95% (95% CI, 1.42%-6.11%) (adjusted HR, 2.9 [95% CI, 1.4-6.0]) vs 2.44% (95% CI, 1.88%-3.16%) for autism spectrum disorder and 1.02% (95% CI, 0.70%-1.49%) for childhood autism among 6152 children not exposed to valproate.
Conclusions and Relevance Maternal use of valproate during pregnancy was associated with a significantly increased risk of autism spectrum disorder and childhood autism in the offspring, even after adjusting for maternal epilepsy. For women of childbearing potential who use antiepileptic medications, these findings must be balanced against the treatment benefits for women who require valproate for epilepsy control. JAMA. 2013;309(16):1696-1703 www.jama.com
C1 [Christensen, Jakob] Aarhus Univ Hosp, Dept Neurol, DK-8000 Aarhus C, Denmark.
[Christensen, Jakob] Aarhus Univ Hosp, Dept Clin Pharmacol, DK-8000 Aarhus C, Denmark.
[Gronborg, Therese Koops; Parner, Erik Thorlund] Aarhus Univ, Inst Publ Hlth, Dept Biostat, Aarhus, Denmark.
[Pedersen, Lars Henning] Aarhus Univ, Inst Publ Hlth, Dept Epidemiol, Aarhus, Denmark.
[Pedersen, Lars Henning] Aarhus Univ, Inst Clin Med, Dept Obstet & Gynaecol, Aarhus, Denmark.
[Vestergaard, Mogens] Aarhus Univ, Inst Publ Hlth, Res Unit, Aarhus, Denmark.
[Vestergaard, Mogens] Aarhus Univ, Inst Publ Hlth, Sect Gen Practice, Aarhus, Denmark.
[Sorensen, Merete Juul] Aarhus Univ Hosp, Reg Ctr Child & Adolescent Psychiat, Risskov, Denmark.
[Schendel, Diana] Ctr Dis Control & Prevent, Atlanta, GA USA.
RP Christensen, J (reprint author), Aarhus Univ Hosp, Dept Neurol, Norrebrogade 44, DK-8000 Aarhus C, Denmark.
EM jakob@farm.au.dk
RI Vestergaard, Mogens/M-9333-2014
OI Vestergaard, Mogens/0000-0001-8830-2174
FU UCB Nordic; Danish Epilepsy Association; Danish Council for Independent
Research; European Research Council (European Union) [260242]; Danish
Medical Research Council [09-072986]
FX All authors have completed and submitted the ICMJE Form for Disclosure
of Potential Conflicts of Interest. Dr Christensen reported receiving
honoraria for serving on the scientific advisory boards of UCB Nordic
and Eisai AB; receiving lecture honoraria from UCB Nordic and Eisai AB;
and receiving travel funding from UCB Nordic. Dr Parner reported
receiving grants from Autism Speaks and the National Institutes of
Health. No other authors reported disclosures.Dr Christensen receives
research support from the Danish Epilepsy Association. Dr Pedersen is
supported by a Sapere Aude-Postdoctoral grant from the Danish Council
for Independent Research. This study was supported by grants from the
European Research Council (the European Union Seventh Framework
Programme, ERC-2010-StG No. 260242) and the Danish Medical Research
Council (09-072986).
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WHO Collaborating Centre for Drug Statistics Methodology (WHOCC), DEF DAIL DOS DEF GEN
NR 36
TC 65
Z9 68
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA
SN 0098-7484
EI 1538-3598
J9 JAMA-J AM MED ASSOC
JI JAMA-J. Am. Med. Assoc.
PD APR 24
PY 2013
VL 309
IS 16
BP 1696
EP 1703
DI 10.1001/jama.2013.2270
PG 8
WC Medicine, General & Internal
SC General & Internal Medicine
GA 130IG
UT WOS:000317906700026
PM 23613074
ER
PT J
AU van Boxtel, JJA
Lu, HJ
AF van boxtel, Jeroen J. A.
Lu, Hongjing
TI Impaired global, and compensatory local, biological motion processing in
people with high levels of autistic traits
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE biological motion perception; autism spectrum disorder; attention;
individual differences; predictive coding; adaptation; dual-task
ID SACCADIC EYE-MOVEMENTS; POINT-LIGHT DISPLAYS; SPECTRUM DISORDERS;
VISUAL-PERCEPTION; CHILDREN; ADAPTATION; BRAIN; RECOGNITION; COHERENCE;
INTEGRATION
AB People with Autism Spectrum Disorder (ASD) are hypothesized to have poor high-level processing but superior low-level processing, causing impaired social recognition, and a focus on non-social stimulus contingencies. Biological motion perception provides an ideal domain to investigate exactly how ASD modulates the interaction between low and high-level processing, because it involves multiple processing stages, and carries many important social cues. We investigated individual differences among typically developing observers in biological motion processing, and whether such individual differences associate with the number of autistic traits. In Experiment 1, we found that individuals with fewer autistic traits were automatically and involuntarily attracted to global biological motion information, whereas individuals with more autistic traits did not show this pre-attentional distraction. We employed an action adaptation paradigm in the second study to show that individuals with more autistic traits were able to compensate for deficits in global processing with an increased involvement in local processing. Our findings can be interpreted within a predictive coding framework, which characterizes the functional relationship between local and global processing stages, and explains how these stages contribute to the perceptual difficulties associated with ASD.
C1 [van boxtel, Jeroen J. A.; Lu, Hongjing] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90095 USA.
[Lu, Hongjing] Univ Calif Los Angeles, Dept Stat, Los Angeles, CA 90095 USA.
RP van Boxtel, JJA (reprint author), Univ Calif Los Angeles, Dept Psychol, Franz Hall 6550, Los Angeles, CA 90095 USA.
EM j.j.a.vanboxtel@gmail.com
RI van Boxtel, Jeroen/O-7624-2014
OI van Boxtel, Jeroen/0000-0003-2643-0474
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NR 81
TC 9
Z9 9
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD APR 23
PY 2013
VL 4
AR 209
DI 10.3389/fpsyg.2013.00209
PG 10
WC Psychology, Multidisciplinary
SC Psychology
GA AA2PP
UT WOS:000330936800001
PM 23630514
ER
PT J
AU Jensen, L
Farook, MF
Reiter, LT
AF Jensen, Laura
Farook, M. Febin
Reiter, Lawrence T.
TI Proteomic Profiling in Drosophila Reveals Potential Dube3a Regulation of
the Actin Cytoskeleton and Neuronal Homeostasis
SO PLOS ONE
LA English
DT Article
ID UBIQUITIN-PROTEIN LIGASE; ANGELMAN-SYNDROME; PROXIMAL 15Q; GLIAL-CELLS;
GENE UBE3A; DEGRADATION; EXPRESSION; DUPLICATION; MUTATIONS; SYNAPSE
AB The molecular defects associated with Angelman syndrome (AS) and 15q duplication autism are directly correlated to expression levels of the E3 ubiquitin ligase protein UBE3A. Here we used Drosophila melanogaster to screen for the targets of this ubiquitin ligase under conditions of both decreased (as in AS) or increased (as in dup(15)) levels of the fly Dube3a or human UBE3A proteins. Using liquid phase isoelectric focusing of proteins from whole fly head extracts we identified a total of 50 proteins that show changes in protein, and in some cases transcriptional levels, when Dube3a fluctuates. We analyzed head extracts from cytoplasmic, nuclear and membrane fractions for Dube3a regulated proteins. Our results indicate that Dube3a is involved in the regulation of cellular functions related to ATP synthesis/metabolism, actin cytoskeletal integrity, both catabolism and carbohydrate metabolism as well as nervous system development and function. Sixty-two percent of the proteins were > 50% identical to homologous human proteins and 8 have previously be shown to be ubiquitinated in the fly nervous system. Eight proteins may be regulated by Dube3a at the transcript level through the transcriptional co-activation function of Dube3a. We investigated one autism-associated protein, ATP alpha, and found that it can be ubiquitinated in a Dube3a dependent manner. We also found that Dube3a mutants have significantly less filamentous actin than wild type larvae consistent with the identification of actin targets regulated by Dube3a. The identification of UBE3A targets is the first step in unraveling the molecular etiology of AS and duplication 15q autism.
C1 [Jensen, Laura; Farook, M. Febin; Reiter, Lawrence T.] Univ Tennessee, Ctr Hlth Sci, Dept Neurol, Memphis, TN 38163 USA.
[Reiter, Lawrence T.] Univ Tennessee, Ctr Hlth Sci, Dept Pediat, Memphis, TN 38163 USA.
[Reiter, Lawrence T.] Univ Tennessee, Ctr Hlth Sci, Dept Anat & Neurobiol, Memphis, TN 38163 USA.
RP Reiter, LT (reprint author), Univ Tennessee, Ctr Hlth Sci, Dept Neurol, Memphis, TN 38163 USA.
EM lreiter@uthsc.edu
FU Autism Speaks; NIH NINDS [R01 NS059902-03]; Neurosciences Institute at
UTHSC; NIH NCRR [1 S10 RR027221-01]
FX This work was supported by an Autism Speaks grant and NIH NINDS grant
R01 NS059902-03 to LTR. Additional support was provided by the
Neurosciences Institute at UTHSC and by NIH NCRR grant 1 S10 RR027221-01
to William E. Armstrong. 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 56
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 APR 23
PY 2013
VL 8
IS 4
AR e61952
DI 10.1371/journal.pone.0061952
PG 14
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 131QH
UT WOS:000318008400122
PM 23626758
ER
PT J
AU Williams, JHG
Nicolson, ATA
Clephan, KJ
de Grauw, H
Perrett, DI
AF Williams, Justin H. G.
Nicolson, Andrew T. A.
Clephan, Katie J.
de Grauw, Haro
Perrett, David I.
TI A Novel Method Testing the Ability to Imitate Composite Emotional
Expressions Reveals an Association with Empathy
SO PLOS ONE
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; FACIAL EXPRESSION;
SOCIAL COGNITION; SEX-DIFFERENCES; MIRROR NEURONS; RECOGNITION;
CHILDREN; SIMULATION; QUOTIENT
AB Social communication relies on intentional control of emotional expression. Its variability across cultures suggests important roles for imitation in developing control over enactment of subtly different facial expressions and therefore skills in emotional communication. Both empathy and the imitation of an emotionally communicative expression may rely on a capacity to share both the experience of an emotion and the intention or motor plan associated with its expression. Therefore, we predicted that facial imitation ability would correlate with empathic traits. We built arrays of visual stimuli by systematically blending three basic emotional expressions in controlled proportions. Raters then assessed accuracy of imitation by reconstructing the same arrays using photographs of participants' attempts at imitations of the stimuli. Accuracy was measured as the mean proximity of the participant photographs to the target stimuli in the array. Levels of performance were high, and rating was highly reliable. More empathic participants, as measured by the empathy quotient (EQ), were better facial imitators and, in particular, performed better on the more complex, blended stimuli. This preliminary study offers a simple method for the measurement of facial imitation accuracy and supports the hypothesis that empathic functioning may utilise motor control mechanisms which are also used for emotional expression.
C1 [Williams, Justin H. G.; Nicolson, Andrew T. A.; Clephan, Katie J.] Univ Aberdeen, Sch Med, Royal Cornhill Hosp, Clin Res Ctr,Div Appl Hlth Sci, Aberdeen AB9 2ZD, Scotland.
[de Grauw, Haro; Perrett, David I.] Univ St Andrews, Sch Psychol & Neurosci, Percept Lab, St Andrews, Fife, Scotland.
RP Williams, JHG (reprint author), Univ Aberdeen, Sch Med, Royal Cornhill Hosp, Clin Res Ctr,Div Appl Hlth Sci, Aberdeen AB9 2ZD, Scotland.
EM justin.williams@abdn.ac.uk
FU Nuffield Foundation Science Bursary; Northwood Trust
FX This study was funded by a Nuffield Foundation Science Bursary awarded
to KJC and support from Northwood Trust to JHGW. 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 50
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 APR 23
PY 2013
VL 8
IS 4
AR e61941
DI 10.1371/journal.pone.0061941
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 131QH
UT WOS:000318008400120
PM 23626756
ER
PT J
AU Xi, CH
Zhu, YL
Zhu, CY
Song, DH
Wang, YG
Wang, K
AF Xi, Chunhua
Zhu, Youling
Zhu, Chunyan
Song, Daohui
Wang, Yongguang
Wang, Kai
TI Deficit of theory of mind after temporal lobe cerebral infarction
SO BEHAVIORAL AND BRAIN FUNCTIONS
LA English
DT Article
DE Temporal lobe; Cognition; Theory of mind
ID HIGH-FUNCTIONING AUTISM; SOCIAL COGNITION; EMOTION RECOGNITION;
PREFRONTAL CORTEX; ACQUIRED THEORY; EPILEPSY; IMPAIRMENTS; EMPATHY;
BRAIN; DAMAGE
AB Background: Previous studies have indicated that the temporal lobe is involved in theory of mind (ToM). However, little attention has been paid to ToM in patients with cerebral infarction. In this study, we investigated the ability of ToM in patients with temporal lobe cerebral infarction (TLCI) using a variety of tests.
Methods: In the study, 19 patients with TLCI and 20 healthy controls (HC) were examined using the Recognition of faux pas and the Reading the Mind in the Eyes (RME) tasks, to assess their ability of ToM.
Results: The results of the study indicated that the TLCI group performed significantly worse compared with the HC group as revealed in the total faux pas-related score and in emotion recognition (Mind Reading).
Conclusions: Our results implied that patients with TLCI had difficulty in ToM. Our data provided new evidence that the temporal lobe may be involved in processing ToM inferences.
C1 [Xi, Chunhua; Zhu, Chunyan; Wang, Yongguang; Wang, Kai] Anhui Med Univ, Neuropsychol Lab, Dept Neurol, Affiliated Hosp 1, Hefei 230022, Anhui, Peoples R China.
[Xi, Chunhua; Zhu, Youling; Song, Daohui] Anhui Med Univ, Dept Neurol, Affiliated Hosp 3, Hefei 230061, Anhui, Peoples R China.
[Wang, Yongguang] Zhejiang Univ, Dept Psychol & Behav Sci, Hangzhou 310028, Peoples R China.
RP Wang, K (reprint author), Anhui Med Univ, Neuropsychol Lab, Dept Neurol, Affiliated Hosp 1, Jixi Rd, Hefei 230022, Anhui, Peoples R China.
EM wangkai1964@yahoo.com
RI Wang, Yongguang/G-9548-2013
FU Natural Science Foundation of China [91232717, 81171273, 31100812,
10080703040]; Educational Commission of Anhui Province [KJ2011Z198]
FX This research was supported by the Natural Science Foundation of China
(91232717, 81171273, 31100812), (10080703040) and Educational Commission
of Anhui Province (KJ2011Z198).
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NR 59
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1744-9081
J9 BEHAV BRAIN FUNCT
JI Behav. Brain Funct.
PD APR 22
PY 2013
VL 9
AR 15
DI 10.1186/1744-9081-9-15
PG 9
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 145AT
UT WOS:000318985700001
PM 23607361
ER
PT J
AU Mareschal, I
Calder, AJ
Clifford, CWG
AF Mareschal, Isabelle
Calder, Andrew J.
Clifford, Colin W. G.
TI Humans Have an Expectation That Gaze Is Directed Toward Them
SO CURRENT BIOLOGY
LA English
DT Article
ID EYE CONTACT; TEMPORAL CORTEX; PERCEPTION; AUTISM; ORIENTATION; LOOKING;
MOTION; FACES; CELLS; ME
AB Many animals use cues from another animal's gaze to help distinguish friend from foe [1-3]. In humans, the direction of someone's gaze provides insight into their focus of interest and state of mind [4] and there is increasing evidence linking abnormal gaze behaviors to clinical conditions such as schizophrenia and autism [5-11]. This fundamental role of another's gaze is buoyed by the discovery of specific brain areas dedicated to encoding directions of gaze in faces [12-14]. Surprisingly, however, very little is known about how others' direction of gaze is interpreted. Here we apply a Bayesian framework that has been successfully applied to sensory and motor domains [15-19] to show that humans have a prior expectation that other people's gaze is directed toward them. This expectation dominates perception when there is high uncertainty, such as at night or when the other person is wearing sunglasses. We presented participants with synthetic faces viewed under high and low levels of uncertainty and manipulated the faces by adding noise to the eyes. Then, we asked the participants to judge relative gaze directions. We found that all participants systematically perceived the noisy gaze as being directed more toward them. This suggests that the adult nervous system internally represents a prior for gaze and highlights the importance of experience in developing our interpretation of another's gaze.
C1 [Mareschal, Isabelle; Clifford, Colin W. G.] Univ Sydney, Sch Psychol, Sydney, NSW 2006, Australia.
[Mareschal, Isabelle; Clifford, Colin W. G.] Univ Sydney, Australian Ctr Excellence Vis Sci, Sydney, NSW 2006, Australia.
[Calder, Andrew J.] MRC, Cognit & Brain Sci Unit, Cambridge CB2 7EF, England.
RP Mareschal, I (reprint author), Queen Mary Univ London, Sch Biol & Chem Sci, London E1 4NS, England.
EM i.mareschal@qmul.ac.uk
FU Australian Research Council [DP120102589, FT110100150]; Medical Research
Council, UK [MC_US_A060_5PQ50]
FX This work is supported by the Australian Research Council Discovery
Project (DP120102589) to C.C. and A.C. C.C. is supported by an
Australian Research Council Future Fellowship (FT110100150). A.C. is
supported by the Medical Research Council, UK (MC_US_A060_5PQ50).
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NR 28
TC 13
Z9 13
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0960-9822
J9 CURR BIOL
JI Curr. Biol.
PD APR 22
PY 2013
VL 23
IS 8
BP 717
EP 721
DI 10.1016/j.cub.2013.03.030
PG 5
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA 131ND
UT WOS:000317999500027
PM 23562265
ER
PT J
AU Smoller, JW
Craddock, N
Kendler, K
Lee, PH
Neale, BM
Nurnberger, JI
Ripke, S
Santangelo, S
Sullivan, PF
AF Smoller, Jordan W.
Craddock, Nicholas
Kendler, Kenneth
Lee, Phil Hyoun
Neale, Benjamin M.
Nurnberger, John I.
Ripke, Stephan
Santangelo, Susan
Sullivan, Patrick F.
CA Psychiatric Genomics Consortium
TI Identification of risk loci with shared effects on five major
psychiatric disorders: a genome-wide analysis
SO LANCET
LA English
DT Article
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS;
BIPOLAR DISORDER; GENE-EXPRESSION; SCHIZOPHRENIA; ASSOCIATION;
METAANALYSIS; POPULATION; CACNA1C; DEPRESSION
AB Background Findings from family and twin studies suggest that genetic contributions to psychiatric disorders do not in all cases map to present diagnostic categories. We aimed to identify specific variants underlying genetic effects shared between the five disorders in the Psychiatric Genomics Consortium: autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia.
Methods We analysed genome-wide single-nucleotide polymorphism (SNP) data for the five disorders in 33 332 cases and 27 888 controls of European ancestory. To characterise allelic effects on each disorder, we applied a multinomial logistic regression procedure with model selection to identify the best-fitting model of relations between genotype and phenotype. We examined cross-disorder effects of genome-wide significant loci previously identified for bipolar disorder and schizophrenia, and used polygenic risk-score analysis to examine such effects from a broader set of common variants. We undertook pathway analyses to establish the biological associations underlying genetic overlap for the five disorders. We used enrichment analysis of expression quantitative trait loci (eQTL) data to assess whether SNPs with cross-disorder association were enriched for regulatory SNPs in post-mortem brain-tissue samples.
Findings SNPs at four loci surpassed the cutoff for genome-wide significance (p<5x10(-8)) in the primary analysis: regions on chromosomes 3p21 and 10q24, and SNPs within two L-type voltage-gated calcium channel subunits, CACNA1C and CACNB2. Model selection analysis supported effects of these loci for several disorders. Loci previously associated with bipolar disorder or schizophrenia had variable diagnostic specificity. Polygenic risk scores showed cross-disorder associations, notably between adult-onset disorders. Pathway analysis supported a role for calcium channel signalling genes for all five disorders. Finally, SNPs with evidence of cross-disorder association were enriched for brain eQTL markers.
Interpretation Our findings show that specific SNPs are associated with a range of psychiatric disorders of childhood onset or adult onset. In particular, variation in calcium-channel activity genes seems to have pleiotropic effects on psychopathology. These results provide evidence relevant to the goal of moving beyond descriptive syndromes in psychiatry, and towards a nosology informed by disease cause.
C1 [Smoller, Jordan W.] Massachusetts Gen Hosp, Boston, MA 02114 USA.
RP Smoller, JW (reprint author), Massachusetts Gen Hosp, Simches Res Bldg, Boston, MA 02114 USA.
EM jsmoller@hms.harvard.edu
RI Franke, Barbara/D-4836-2009; Sonuga-Barke, Edmund/D-9137-2011; Kuntsi,
Jonna/G-9750-2011; van Grootheest, Gerard/C-6942-2014; Sigurdsson,
Engilbert/D-2486-2014; Kahler, Anna/J-2874-2012; McQuillin,
Andrew/C-1623-2008; Nolen, Willem/E-9006-2014; Zhang, Peng/N-2920-2014;
Breen, Gerome/A-5540-2010; Medland, Sarah/C-7630-2013; Hansen,
Thomas/O-5965-2014; Lesch, Klaus-Peter/J-4906-2013; Mowry, Bryan
/G-5046-2010; Holmans, Peter/F-4518-2015
OI Franke, Barbara/0000-0003-4375-6572; van Grootheest,
Gerard/0000-0003-4350-6661; Sigurdsson, Engilbert/0000-0001-9404-7982;
McQuillin, Andrew/0000-0003-1567-2240; Zhang, Peng/0000-0003-1182-1392;
Breen, Gerome/0000-0003-2053-1792; Medland, Sarah/0000-0003-1382-380X;
Hansen, Thomas/0000-0001-6703-7762; Lesch,
Klaus-Peter/0000-0001-8348-153X; Holmans, Peter/0000-0003-0870-9412
FU NIMH [U01 MH085520]; National Institutes of Health (USA); National
Institute of Mental Health
FX National Institute of Mental Health.We thank the study participants, and
the research staff at the many study sites. This work was supported by
NIMH grant U01 MH085520. Numerous grants from the National Institutes of
Health (USA), and similar numbers of government grants from other
countries, and substantial private and foundation support enabled this
work.
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NR 50
TC 385
Z9 391
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0140-6736
J9 LANCET
JI Lancet
PD APR 20
PY 2013
VL 381
IS 9875
BP 1371
EP 1379
DI 10.1016/S0140-6736(12)62129-1
PG 9
WC Medicine, General & Internal
SC General & Internal Medicine
GA 130EF
UT WOS:000317894800034
PM 23453885
ER
PT J
AU Jackson, ML
AF Jackson, Michael L.
TI Challenges in comparing the safety of different vaccination schedules
SO VACCINE
LA English
DT Article
DE Epidemiologic methods; Immunization schedule; Vaccination
ID CASE SERIES; VACCINES; INFANTS; PHYSICIANS; PARENTS; AUTISM; DESIGN;
RISK
AB As vaccine hesitancy has increased in the United States, various authors have begun proposing alternatives to the Advisory Committee on Immunization Practices' recommended childhood immunization schedule. Because parents may believe the safety claims made by such authors, evaluations of the safety of alternative vaccination schedules are needed. However, comparing the safety of different vaccination schedules has numerous methodologic challenges. These challenges include defining vaccination history, defining safety, appropriately modeling interactions between vaccines, and appropriately handling age effects. Failure to properly address these challenges can result in biased results. (C) 2013 Elsevier Ltd. All rights reserved.
C1 Grp Hlth Res Inst, Seattle, WA 98101 USA.
RP Jackson, ML (reprint author), Grp Hlth Res Inst, 1730 Minor Ave,Suite 1600, Seattle, WA 98101 USA.
EM jackson.ml@ghc.org
FU America's Health Insurance Plans (AHIP) from the Centers for Disease
Control and Prevention (CDC) [200-2002-00732]
FX This work was supported by a subcontract with America's Health Insurance
Plans (AHIP) under contract 200-2002-00732 from the Centers for Disease
Control and Prevention (CDC).
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NR 24
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 0264-410X
J9 VACCINE
JI Vaccine
PD APR 19
PY 2013
VL 31
IS 17
BP 2126
EP 2129
DI 10.1016/j.vaccine.2013.02.054
PG 4
WC Immunology; Medicine, Research & Experimental
SC Immunology; Research & Experimental Medicine
GA 135ZO
UT WOS:000318329400004
PM 23470238
ER
PT J
AU Rai, D
Lee, BK
Dalman, C
Golding, J
Lewis, G
Magnusson, C
AF Rai, Dheeraj
Lee, Brian K.
Dalman, Christina
Golding, Jean
Lewis, Glyn
Magnusson, Cecilia
TI Parental depression, maternal antidepressant use during pregnancy, and
risk of autism spectrum disorders: population based case-control study
SO BMJ-BRITISH MEDICAL JOURNAL
LA English
DT Article
ID SEROTONIN REUPTAKE INHIBITORS; COMPREHENSIVE METAANALYSIS;
PSYCHIATRIC-DISORDERS; SOCIOECONOMIC-STATUS; FETAL-GROWTH; EXPOSURE;
OUTCOMES; REGISTER; BIRTH; MISCLASSIFICATION
AB Objective To study the association between parental depression and maternal antidepressant use during pregnancy with autism spectrum disorders in offspring.
Design Population based nested case-control study.
Setting Stockholm County, Sweden, 2001-07.
Participants 4429 cases of autism spectrum disorder (1828 with and 2601 without intellectual disability) and 43 277 age and sex matched controls in the full sample (1679 cases of autism spectrum disorder and 16 845 controls with data on maternal antidepressant use nested within a cohort (n=589 114) of young people aged 0-17 years.
Main outcome measure A diagnosis of autism spectrum disorder, with or without intellectual disability.
Exposures Parental depression and other characteristics prospectively recorded in administrative registers before the birth of the child. Maternal antidepressant use, recorded at the first antenatal interview, was available for children born from 1995 onwards.
Results A history of maternal (adjusted odds ratio 1.49, 95% confidence interval 1.08 to 2.08) but not paternal depression was associated with an increased risk of autism spectrum disorders in offspring. In the subsample with available data on drugs, this association was confined to women reporting antidepressant use during pregnancy (3.34, 1.50 to 7.47, P=0.003), irrespective of whether selective serotonin reuptake inhibitors (SSRIs) or non-selective monoamine reuptake inhibitors were reported. All associations were higher in cases of autism without intellectual disability, there being no evidence of an increased risk of autism with intellectual disability. Assuming an unconfounded, causal association, antidepressant use during pregnancy explained 0.6% of the cases of autism spectrum disorder.
Conclusions In utero exposure to both SSRIs and non-selective monoamine reuptake inhibitors (tricyclic antidepressants) was associated with an increased risk of autism spectrum disorders, particularly without intellectual disability. Whether this association is causal or reflects the risk of autism with severe depression during pregnancy requires further research. However, assuming causality, antidepressant use during pregnancy is unlikely to have contributed significantly towards the dramatic increase in observed prevalence of autism spectrum disorders as it explained less than 1% of cases.
C1 [Rai, Dheeraj; Lewis, Glyn] Univ Bristol, Sch Social & Community Med, Ctr Mental Hlth Addict & Suicide Res, Bristol BS8 2BN, Avon, England.
[Rai, Dheeraj; Dalman, Christina; Magnusson, Cecilia] Karolinska Inst, Dept Publ Hlth Sci, Div Publ Hlth Epidemiol, Stockholm, Sweden.
[Rai, Dheeraj] Avon & Wiltshire Partnership Mental Hlth NHS Trus, Bristol, Avon, England.
[Lee, Brian K.] Drexel Univ, Sch Publ Hlth, Dept Epidemiol & Biostat, Philadelphia, PA 19104 USA.
[Golding, Jean] Univ Bristol, Sch Social & Community Med, Ctr Child & Adolescent Hlth, Bristol BS8 2BN, Avon, England.
RP Rai, D (reprint author), Univ Bristol, Sch Social & Community Med, Ctr Mental Hlth Addict & Suicide Res, Bristol BS8 2BN, Avon, England.
EM dheeraj.rai@bristol.ac.uk
RI Lewis, Glyn/E-9944-2012
OI Lewis, Glyn/0000-0001-5205-8245
FU Swedish Research Council [2012-3017, 523-2010-1052]; Stockholm County
Council [2007008]; Swedish Council for Working Life and Social Research
[2007-2064]; Swedish Regional agreement on medical training and clinical
research (ALF)
FX This study was funded by the Swedish Research Council (grant No
2012-3017). The data linkages and staff costs have also been supported
by grants from the Stockholm County Council (2007008), Swedish Council
for Working Life and Social Research (2007-2064), Swedish Research
Council (523-2010-1052), and Swedish Regional agreement on medical
training and clinical research (ALF). No funder had any role in the
study design; data collection, analysis, or interpretation; in the
writing of the report; or in the decision to submit the article for
publication. The views expressed are those of the authors and not
necessarily those of any of the funders or organisations they represent.
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NR 46
TC 35
Z9 36
PU BMJ PUBLISHING GROUP
PI LONDON
PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
SN 1756-1833
J9 BMJ-BRIT MED J
JI BMJ-British Medical Journal
PD APR 19
PY 2013
VL 346
AR f2059
DI 10.1136/bmj.f2059
PG 15
WC Medicine, General & Internal
SC General & Internal Medicine
GA 131BG
UT WOS:000317965000001
PM 23604083
ER
PT J
AU Rotschafer, S
Razak, K
AF Rotschafer, Sarah
Razak, Khaleel
TI Altered auditory processing in a mouse model of fragile X syndrome
SO BRAIN RESEARCH
LA English
DT Article
DE Auditory cortex; Fragile X syndrome; Autism; Fmr1 KO mice;
Hyper-excitability
ID FMR1 KNOCKOUT MICE; FREQUENCY-MODULATED SWEEPS; DENDRITIC SPINES;
INFERIOR COLLICULUS; MISMATCH NEGATIVITY; BALANCED INHIBITION; RESPONSE
PROPERTIES; GABA(A) RECEPTOR; STARTLE RESPONSE; YOUNG MALES
AB This study provides the first description of auditory cortical processing in a mouse model of Fragile X Syndrome (FXS). FXS is a genetic cause of intellectual impairment and is an autism spectrum disorder. Human studies with auditory evoked potentials indicate that FXS is associated with abnormal auditory processing. The Fmr1 knock-out (KO) mouse is a useful model for studying FXS. The KO mice show acoustic hypersensitivity and propensity for audiogenic seizures, suggesting altered auditory responses. However, the nature of changes at the neuronal level is not known. Here we conducted in vivo single unit extracellular electrophysiology in the auditory cortex of urethane/xylazine-anesthetized Fmr1 KO mice in response to tones and frequency modulated (FM) sweeps. Using tones as stimuli, we report expanded frequency tuning, enhanced response magnitude, and more variable first spike latencies in Fmr1 KO mice compared to wild-type controls. FM sweep stimuli revealed altered sensitivity to the rate of frequency change indicating abnormal spectrotemporal processing. There was no difference in FM sweep direction selectivity. Consistent with studies of the somatosensory cortex, these data point to hyper-responsiveness of auditory neurons as a key processing abnormality in FXS. Auditory neural responses can serve as outcome measures in preclinical trials of therapeutics for FXS as well as serve as physiological probes to study their mechanisms of action. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Razak, Khaleel] Univ Calif Riverside, Grad Program Neurosci, Riverside, CA 92521 USA.
Univ Calif Riverside, Dept Psychol, Riverside, CA 92521 USA.
RP Razak, K (reprint author), Univ Calif Riverside, Grad Program Neurosci, Riverside, CA 92521 USA.
EM khaleel@ucr.edu
FU FRAXA Research Foundation
FX This work was supported by the FRAXA Research Foundation. We thank
members of the Razak lab for useful discussions on the data and the
manuscript. We also thank Dr. Iryna Ethell for providing mice for
experiments and discussions of the data.
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NR 81
TC 10
Z9 10
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
J9 BRAIN RES
JI Brain Res.
PD APR 19
PY 2013
VL 1506
BP 12
EP 24
DI 10.1016/j.brainres.2013.02.038
PG 13
WC Neurosciences
SC Neurosciences & Neurology
GA 134KJ
UT WOS:000318208800002
PM 23458504
ER
PT J
AU Yang, W
Liu, J
Zheng, FF
Jia, MX
Zhao, LN
Lu, TL
Ruan, YY
Zhang, JS
Yue, WH
Zhang, D
Wang, LF
AF Yang, Wen
Liu, Jing
Zheng, Fanfan
Jia, Meixiang
Zhao, Linnan
Lu, Tianlan
Ruan, Yanyan
Zhang, Jishui
Yue, Weihua
Zhang, Dai
Wang, Lifang
TI The Evidence for Association of ATP2B2 Polymorphisms with Autism in
Chinese Han Population
SO PLOS ONE
LA English
DT Article
ID PLASMA-MEMBRANE CA2+-ATPASE; PERVASIVE DEVELOPMENTAL DISORDERS; COMMON
GENETIC-VARIANTS; GENOME-WIDE; LINKAGE DISEQUILIBRIUM; DISEASE GENES;
RAT-BRAIN; SPECTRUM DISORDERS; INFANTILE-AUTISM; COMPLEX DISEASES
AB Background: Autism is a neurodevelopmental disorder with a high estimated heritability. ATP2B2, located on human chromosome 3p25.3, encodes the plasma membrane calcium-transporting ATPase 2 which extrudes Ca2+ from cytosol into extracellular space. Recent studies reported association between ATP2B2 and autism in samples from Autism Genetic Resource Exchange (AGRE) and Italy. In this study, we investigated whether ATP2B2 polymorphisms were associated with autism in Chinese Han population.
Methods: We performed a family based association study between five SNPs (rs35678 in exon, rs241509, rs3774180, rs3774179, and rs2278556 in introns) in ATP2B2 and autism in 427 autism trios of Han Chinese descent. All SNPs were genotyped using the Sequenom genotyping platform. The family-based association test (FBAT) program was used to perform association test for SNPs and haplotype analyses.
Results: This study demonstrated a preferential transmission of T allele of rs3774179 to affected offsprings under an additive model (T>C, Z = 2.482, p = 0.013). While C allele of rs3774179 showed an undertransmission from parents to affected children under an additive and a dominant model, respectively (Z = -2.482, p = 0.013; Z = -2.591, p = 0.0096). Haplotype analyses revealed that three haplotypes were significantly associated with autism. The haplotype C-C (rs3774180-rs3774179) showed a significant undertransmission from parents to affected offsprings both in specific and global haplotype FBAT (Z = -2.037, p = 0.042; Global p = 0.03). As for the haplotype constructed by rs3774179 and rs2278556, C-A might be a protective haplotype (Z = -2.206, p = 0.027; Global p = 0.04), while T-A demonstrated an excess transmission from parents to affected offsprings (Z = 2.143, p = 0.032). These results were still significant after using the permutation method to obtain empirical p values.
Conclusions: Our research suggested that ATP2B2 might play a role in the etiology of autism in Chinese Han population.
C1 [Yang, Wen; Liu, Jing; Zheng, Fanfan; Jia, Meixiang; Zhao, Linnan; Lu, Tianlan; Ruan, Yanyan; Yue, Weihua; Zhang, Dai; Wang, Lifang] Peking Univ, Minist Hlth, Key Lab Mental Hlth, Beijing 100871, Peoples R China.
[Yang, Wen; Liu, Jing; Zheng, Fanfan; Jia, Meixiang; Zhao, Linnan; Lu, Tianlan; Ruan, Yanyan; Yue, Weihua; Zhang, Dai; Wang, Lifang] Peking Univ, Inst Mental Hlth, Beijing 100871, Peoples R China.
[Zhang, Jishui] Capital Univ Med Sci, Beijing Childrens Hosp, Beijing, Peoples R China.
[Zhang, Dai] Peking Tsinghua Ctr Life Sci, Beijing, Peoples R China.
RP Zhang, D (reprint author), Peking Univ, Minist Hlth, Key Lab Mental Hlth, Beijing 100871, Peoples R China.
EM daizhang@bjmu.edu.cn; lifangwang@bjmu.edu.cn
FU National Basic Research Development Program of China (973 program)
[2010CB833905]; National Natural Science Foundation [81071110]
FX This research was supported by research grants from the National Basic
Research Development Program of China (973 program 2010CB833905), and
National Natural Science Foundation (grant number 81071110). 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 61
TC 1
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 APR 19
PY 2013
VL 8
IS 4
AR e61021
DI 10.1371/journal.pone.0061021
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 130JA
UT WOS:000317909500007
PM 23620727
ER
PT J
AU Butterworth, B
Kovas, Y
AF Butterworth, Brian
Kovas, Yulia
TI Understanding Neurocognitive Developmental Disorders Can Improve
Education for All
SO SCIENCE
LA English
DT Review
ID COGNITIVE NEUROSCIENCE; FAMILIAL TRANSMISSION; DYSLEXIA; BRAIN;
DYSCALCULIA; CHILDREN; ADHD; LANGUAGE; AUTISM; DIFFICULTIES
AB Specific learning disabilities (SLDs) are estimated to affect up to 10% of the population, and they co-occur far more often than would be expected, given their prevalences. We need to understand the complex etiology of SLDs and their co-occurrences in order to underpin the training of teachers, school psychologists, and clinicians, so that they can reliably recognize SLDs and optimize the learning contexts for individual learners.
C1 [Butterworth, Brian] UCL, Inst Cognit Neurosci, London WC1N 3AR, England.
[Butterworth, Brian] IRCCS Osped San Camillo, Venice, Italy.
[Butterworth, Brian; Kovas, Yulia] Univ Melbourne, Melbourne Sch Psychol Sci, Melbourne, Vic, Australia.
[Kovas, Yulia] Tomsk State Univ, Dept Psychol, Tomsk 634050, Russia.
[Kovas, Yulia] Univ London, Dept Psychol, London, England.
Kings Coll London, Social Genet & Dev Psychiat Ctr, London WC2R 2LS, England.
RP Butterworth, B (reprint author), UCL, Inst Cognit Neurosci, Alexandra House,17 Queen Sq, London WC1N 3AR, England.
EM b.butterworth@ucl.ac.uk
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Wechsler D., 2008, WECHSLER ADULT INTEL
World Health Organization, 1994, INT CLASS DIS 10
NR 45
TC 9
Z9 10
PU AMER ASSOC ADVANCEMENT SCIENCE
PI WASHINGTON
PA 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA
SN 0036-8075
J9 SCIENCE
JI Science
PD APR 19
PY 2013
VL 340
IS 6130
BP 300
EP 305
DI 10.1126/science.1231022
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 126XZ
UT WOS:000317657500039
PM 23599478
ER
PT J
AU Shi, LL
Zhang, X
Golhar, R
Otieno, FG
He, MZ
Hou, CP
Kim, C
Keating, B
Lyon, GJ
Wang, K
Hakonarson, H
AF Shi, Lingling
Zhang, Xu
Golhar, Ryan
Otieno, Frederick G.
He, Mingze
Hou, Cuiping
Kim, Cecilia
Keating, Brendan
Lyon, Gholson J.
Wang, Kai
Hakonarson, Hakon
TI Whole-genome sequencing in an autism multiplex family
SO MOLECULAR AUTISM
LA English
DT Article
ID DE-NOVO MUTATIONS; COPY NUMBER VARIATION; SPECTRUM DISORDERS;
GENETIC-VARIANTS; ICHTHYOSIS VULGARIS; WIDE ASSOCIATION; BIPOLAR
DISORDER; NOTCH2 CAUSE; PROTEIN; COMMON
AB Background: Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental disorders that affect 1 in 88 children in the US. Previous exome sequencing studies on family trios have implicated a role for rare, de-novo mutations in the pathogenesis of autism.
Methods: To examine the utility of whole-genome sequencing to identify inherited disease candidate variants and genes, we sequenced two probands from a large pedigree, including two parents and eight children. We evaluated multiple analytical strategies to identify a prioritized list of candidate genes.
Results: By assuming a recessive model of inheritance, we identified seven candidate genes shared by the two probands. We also evaluated a different analytical strategy that does not require the assumption of disease model, and identified a list of 59 candidate variants that may increase susceptibility to autism. Manual examination of this list identified ANK3 as the most likely candidate gene. Finally, we identified 33 prioritized non-coding variants such as those near SMG6 and COQ5, based on evolutionary constraint and experimental evidence from ENCODE. Although we were unable to confirm rigorously whether any of these genes indeed contribute to the disease, our analysis provides a prioritized shortlist for further validation studies.
Conclusions: Our study represents one of the first whole-genome sequencing studies in autism leveraging a large family-based pedigree. These results provide for a discussion on the relative merits of finding de-novo mutations in sporadic cases versus finding inherited mutations in large pedigrees, in the context of neuropsychiatric and neurodevelopmental diseases.
C1 [Shi, Lingling; Wang, Kai] Univ So Calif, Keck Sch Med, Zilkha Neurogenet Inst, Dept Psychiat, Los Angeles, CA 90089 USA.
[Zhang, Xu] S China Univ Technol, Sch Biosci & Bioengn, Guangzhou 510641, Guangdong, Peoples R China.
[Zhang, Xu; He, Mingze] BGI Tianjin, Tianjin 300308, Peoples R China.
[Golhar, Ryan; Otieno, Frederick G.; Hou, Cuiping; Kim, Cecilia; Keating, Brendan; Lyon, Gholson J.; Wang, Kai; Hakonarson, Hakon] Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA.
[Lyon, Gholson J.] Cold Spring Harbor Lab, Stanley Inst Cognit Genom, New York, NY 11724 USA.
[Hakonarson, Hakon] Univ Penn, Dept Pediat, Philadelphia, PA 19104 USA.
RP Wang, K (reprint author), Univ So Calif, Keck Sch Med, Zilkha Neurogenet Inst, Dept Psychiat, Los Angeles, CA 90089 USA.
EM kaiwang@usc.edu; hakonarson@email.chop.edu
RI Lyon, Gholson/D-2765-2014
OI Lyon, Gholson/0000-0002-5869-0716
FU NIH/NHGRI [R01 HG006465]; PADOH [4100047863]; Lurie Foundation; Margaret
Q Landenberger Foundation
FX The authors thank members of the Wang and Hakonarson lab for helpful
discussions and comments. This study is in part supported by NIH/NHGRI
grant number R01 HG006465 and by PADOH grant 4100047863 for autism
genetics. We also thank the Lurie Foundation and the Margaret Q
Landenberger Foundation for their support.
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NR 72
TC 9
Z9 11
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 APR 18
PY 2013
VL 4
AR 8
DI 10.1186/2040-2392-4-8
PG 15
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA 254UO
UT WOS:000327193700001
PM 23597238
ER
PT J
AU Tropeano, M
Ahn, JW
Dobson, RJB
Breen, G
Rucker, J
Dixit, A
Pal, DK
McGuffin, P
Farmer, A
White, PS
Andrieux, J
Vassos, E
Ogilvie, CM
Curran, S
Collier, DA
AF Tropeano, Maria
Ahn, Joo Wook
Dobson, Richard J. B.
Breen, Gerome
Rucker, James
Dixit, Abhishek
Pal, Deb K.
McGuffin, Peter
Farmer, Anne
White, Peter S.
Andrieux, Joris
Vassos, Evangelos
Ogilvie, Caroline Mackie
Curran, Sarah
Collier, David A.
TI Male-Biased Autosomal Effect of 16p13.11 Copy Number Variation in
Neurodevelopmental Disorders
SO PLOS ONE
LA English
DT Article
ID RARE CHROMOSOMAL DELETIONS; END RULE PATHWAY; HUMAN GENOME; DE-NOVO;
DEVELOPMENTAL DELAY; RECURRENT MICRODELETIONS; GENERALIZED EPILEPSIES;
GENETIC ARCHITECTURE; SPECTRUM DISORDERS; BIPOLAR DISORDER
AB Copy number variants (CNVs) at chromosome 16p13.11 have been associated with a range of neurodevelopmental disorders including autism, ADHD, intellectual disability and schizophrenia. Significant sex differences in prevalence, course and severity have been described for a number of these conditions but the biological and environmental factors underlying such sex-specific features remain unclear. We tested the burden and the possible sex-biased effect of CNVs at 16p13.11 in a sample of 10,397 individuals with a range of neurodevelopmental conditions, clinically referred for array comparative genomic hybridisation (aCGH); cases were compared with 11,277 controls. In order to identify candidate phenotype-associated genes, we performed an interval-based analysis and investigated the presence of ohnologs at 16p13.11; finally, we searched the DECIPHER database for previously identified 16p13.11 copy number variants. In the clinical referral series, we identified 46 cases with CNVs of variable size at 16p13.11, including 28 duplications and 18 deletions. Patients were referred for various phenotypes, including developmental delay, autism, speech delay, learning difficulties, behavioural problems, epilepsy, microcephaly and physical dysmorphisms. CNVs at 16p13.11 were also present in 17 controls. Association analysis revealed an excess of CNVs in cases compared with controls (OR = 2.59; p = 0.0005), and a sex-biased effect, with a significant enrichment of CNVs only in the male subgroup of cases (OR = 5.62; p = 0.0002), but not in females (OR = 1.19, p = 0.673). The same pattern of results was also observed in the DECIPHER sample. Interval-based analysis showed a significant enrichment of case CNVs containing interval II (OR = 2.59; p = 0.0005), located in the 0.83 Mb genomic region between 15.49-16.32 Mb, and encompassing the four ohnologs NDE1, MYH11, ABCC1 and ABCC6. Our data confirm that duplications and deletions at 16p13.11 represent incompletely penetrant pathogenic mutations that predispose to a range of neurodevelopmental disorders, and suggest a sex-limited effect on the penetrance of the pathological phenotypes at the 16p13.11 locus.
C1 [Tropeano, Maria; Dobson, Richard J. B.; Breen, Gerome; Rucker, James; Dixit, Abhishek; McGuffin, Peter; Farmer, Anne; Vassos, Evangelos; Curran, Sarah; Collier, David A.] Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London WC2R 2LS, England.
[Ahn, Joo Wook; Ogilvie, Caroline Mackie] Guys & St Thomas NHS Fdn Trust, Dept Cytogenet, London, England.
[Pal, Deb K.] Kings Coll London, Inst Psychiat, Dept Clin Neurosci, London WC2R 2LS, England.
[White, Peter S.] Childrens Hosp Philadelphia, Ctr Biomed Informat, Philadelphia, PA 19104 USA.
[White, Peter S.] Childrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA.
[Andrieux, Joris] CHRU Lille, Inst Genet Med, Lille, France.
[Collier, David A.] Eli Lilly & Co Ltd, Discovery Neurosci Res, Lilly Res Labs, Windlesham, Surrey, England.
RP Tropeano, M (reprint author), Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London WC2R 2LS, England.
EM maria.tropeano@kcl.ac.uk; collier_david_andrew@lilly.com
RI Vassos, Evangelos/F-9825-2013; McGuffin, Peter/A-1565-2012; Tropeano,
Maria/E-7611-2011; Dobson, Richard/C-9269-2011; Breen,
Gerome/A-5540-2010
OI Vassos, Evangelos/0000-0001-6363-0438; McGuffin,
Peter/0000-0002-9888-2907; Tropeano, Maria/0000-0002-5156-7539; Dobson,
Richard/0000-0003-4224-9245; Breen, Gerome/0000-0003-2053-1792
FU South London and Maudsley Trust NIHR specialist Biomedical Research
Centre; Guys and St Thomas Trust NIHR comprehensive Biomedical Research
Centre; European Commission Seventh Framework project PsychCNVs
[HEALTH-2007-2.2.1-10-223423]; Wellcome Trust (Wellcome Trust Case
control consortium; WTCCC2)
FX This project and the BBGRE database (BBGRE.org) was funded through a
strategic partnership of the South London and Maudsley Trust NIHR
specialist Biomedical Research Centre and the Guys and St Thomas Trust
NIHR comprehensive Biomedical Research Centre. DAC is funded by the
European Commission Seventh Framework project PsychCNVs
(http://www.psych-cnv.eu/; Grant agreement number
HEALTH-2007-2.2.1-10-223423). This work was supported by the Wellcome
Trust (Wellcome Trust Case control consortium; WTCCC2) (DAC). 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 77
TC 23
Z9 23
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 APR 18
PY 2013
VL 8
IS 4
AR e61365
DI 10.1371/journal.pone.0061365
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 130IU
UT WOS:000317908700026
PM 23637818
ER
PT J
AU Wolowiec, P
Michalak, I
Chojnacka, K
Mikulewicz, M
AF Wolowiec, Paulina
Michalak, Izabela
Chojnacka, Katarzyna
Mikulewicz, Marcin
TI Hair analysis in health assessment
SO CLINICA CHIMICA ACTA
LA English
DT Review
DE Scalp hair; Mineral composition; Diagnosis; Autism; Cancer
ID HUMAN SCALP HAIR; NEUTRON-ACTIVATION ANALYSIS; DIABETES-MELLITUS
PATIENTS; BONE-MINERAL DENSITY; ATOMIC-ABSORPTION-SPECTROMETRY;
PLASMA-MASS SPECTROMETRY; TRACE-ELEMENT EXPOSURE; BREAST-CANCER
PATIENTS; CHRONIC-RENAL-FAILURE; BLOOD MERCURY LEVEL
AB Background: Hair analysis is used for estimation of the nutritional status of individuals. In the present work, a systematic review on the relation between the mineral composition of hair and the physical or mental disorders is discussed. Detailed information of examined populations, methods of sample preparations and analytical techniques are presented.
Methods: A systematic literature search in four electronic databases Scopus, PubMed, Web of Science and Medline (from 1997 to 2012/01/31) for English language articles was performed. In addition, a reference list and manual search was undertaken.
Results: The following number of studies was included: 66. Most of the authors reported that there exists a correlation between deficiency or excess of some elements in hair and occurrence of some diseases, such as: autism, cancer, hypertension, myocardial infarction, kidney disease and diabetes mellitus. However, not all results were consistent.
Conclusions: Most of the authors concluded that the profile of hair mineral imbalance might be useful as a diagnostic tool for the early diagnosis of many diseases. However, it seems that there is a need to standardize sample preparation procedures, in particular washing and mineralization methods. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Wolowiec, Paulina; Michalak, Izabela; Chojnacka, Katarzyna] Wroclaw Univ Technol, Inst Inorgan Technol & Mineral Fertilizers, PL-50372 Wroclaw, Poland.
[Mikulewicz, Marcin] Med Acad Wroclaw, Dept Dentofacial Orthopead & Orthodont, PL-50425 Wroclaw, Poland.
RP Michalak, I (reprint author), Wroclaw Univ Technol, Inst Inorgan Technol & Mineral Fertilizers, Smoluchowskiego 25, PL-50372 Wroclaw, Poland.
EM paulina.wolowiec@pwr.wroc.pl; izabela.michalak@pwr.wroc.pl;
katarzyna.chojnacka@pwr.wroc.pl; mikulewicz.marcin@gmail.com
FU National Centre for Research and Development in Poland [N R13 0006 10]
FX The work was supported by The National Centre for Research and
Development in Poland - project no. N R13 0006 10.
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NR 247
TC 6
Z9 6
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0009-8981
J9 CLIN CHIM ACTA
JI Clin. Chim. Acta
PD APR 18
PY 2013
VL 419
BP 139
EP 171
DI 10.1016/j.cca.2013.02.001
PG 33
WC Medical Laboratory Technology
SC Medical Laboratory Technology
GA 134EK
UT WOS:000318192700027
PM 23415695
ER
PT J
AU Dominguez, LG
Velazquez, JLP
Galan, RF
AF Dominguez, Luis Garcia
Velazquez, Jose Luis Perez
Galan, Roberto Fernandez
TI A Model of Functional Brain Connectivity and Background Noise as a
Biomarker for Cognitive Phenotypes: Application to Autism
SO PLOS ONE
LA English
DT Article
ID SPATIAL-ORGANIZATION; PREFRONTAL CORTEX; SPECTRUM DISORDER; COMPLEXITY;
NETWORKS; SYNCHRONIZATION; SPECIFICITY; DYNAMICS
AB We present an efficient approach to discriminate between typical and atypical brains from macroscopic neural dynamics recorded as magnetoencephalograms (MEG). Our approach is based on the fact that spontaneous brain activity can be accurately described with stochastic dynamics, as a multivariate Ornstein-Uhlenbeck process (mOUP). By fitting the data to a mOUP we obtain: 1) the functional connectivity matrix, corresponding to the drift operator, and 2) the traces of background stochastic activity (noise) driving the brain. We applied this method to investigate functional connectivity and background noise in juvenile patients (n = 9) with Asperger's syndrome, a form of autism spectrum disorder (ASD), and compared them to age-matched juvenile control subjects (n = 10). Our analysis reveals significant alterations in both functional brain connectivity and background noise in ASD patients. The dominant connectivity change in ASD relative to control shows enhanced functional excitation from occipital to frontal areas along a parasagittal axis. Background noise in ASD patients is spatially correlated over wide areas, as opposed to control, where areas driven by correlated noise form smaller patches. An analysis of the spatial complexity reveals that it is significantly lower in ASD subjects. Although the detailed physiological mechanisms underlying these alterations cannot be determined from macroscopic brain recordings, we speculate that enhanced occipital-frontal excitation may result from changes in white matter density in ASD, as suggested in previous studies. We also venture that long-range spatial correlations in the background noise may result from less specificity (or more promiscuity) of thalamo-cortical projections. All the calculations involved in our analysis are highly efficient and outperform other algorithms to discriminate typical and atypical brains with a comparable level of accuracy. Altogether our results demonstrate a promising potential of our approach as an efficient biomarker for altered brain dynamics associated with a cognitive phenotype.
C1 [Dominguez, Luis Garcia] Univ Toronto, Temerty Ctr Therapeut Brain Intervent, Ctr Addict & Mental Hlth, Toronto, ON, Canada.
[Velazquez, Jose Luis Perez] Univ Toronto, Hosp Sick Children, Brain & Behav Ctr, Neurosci & Mental Hlth Programme,Div Neurol, Toronto, ON M5G 1X8, Canada.
[Velazquez, Jose Luis Perez] Univ Toronto, Inst Med Sci, Toronto, ON M5S 1A1, Canada.
[Velazquez, Jose Luis Perez] Univ Toronto, Dept Paediat, Toronto, ON M5S 1A1, Canada.
[Galan, Roberto Fernandez] Case Western Reserve Univ, Sch Med, Dept Neurosci, Cleveland, OH 44106 USA.
RP Galan, RF (reprint author), Case Western Reserve Univ, Sch Med, Dept Neurosci, Cleveland, OH 44106 USA.
EM rfgalan@case.edu
FU Natural Sciences and Engineering Research Council of Canada
[227059-2012]; Mt. Sinai Health Care Foundation; NSERC
FX This study was funded in part by a grant (number 227059-2012) of the
Natural Sciences and Engineering Research Council of Canada, NSERC
(JLPV) and a scholarship of The Mt. Sinai Health Care Foundation (RFG).
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 9
Z9 9
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 APR 17
PY 2013
VL 8
IS 4
AR e61493
DI 10.1371/journal.pone.0061493
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 130IK
UT WOS:000317907200059
PM 23613864
ER
PT J
AU Robertson, CE
Kravitz, DJ
Freyberg, J
Baron-Cohen, S
Baker, CI
AF Robertson, Caroline E.
Kravitz, Dwight J.
Freyberg, Jan
Baron-Cohen, Simon
Baker, Chris I.
TI Tunnel Vision: Sharper Gradient of Spatial Attention in Autism
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
ID VISUAL-ACUITY; CONTRAST SENSITIVITY; SPECTRUM DISORDERS; PERCEPTION;
MECHANISMS; CHILDREN; SEARCH; DORSAL; FIELD
AB Enhanced perception of detail has long been regarded a hallmark of autism spectrum conditions (ASC), but its origins are unknown. Normal sensitivity on all fundamental perceptual measures-visual acuity, contrast discrimination, and flicker detection-is strongly established in the literature. If individuals with ASC do not have superior low-level vision, how is perception of detail enhanced? We argue that this apparent paradox can be resolved by considering visual attention, which is known to enhance basic visual sensitivity, resulting in greater acuity and lower contrast thresholds. Here, we demonstrate that the focus of attention and concomitant enhancement of perception are sharper in human individuals with ASC than in matched controls. Using a simple visual acuity task embedded in a standard cueing paradigm, we mapped the spatial and temporal gradients of attentional enhancement by varying the distance and onset time of visual targets relative to an exogenous cue, which obligatorily captures attention. Individuals with ASC demonstrated a greater fall-off in performance with distance from the cue than controls, indicating a sharper spatial gradient of attention. Further, this sharpness was highly correlated with the severity of autistic symptoms in ASC, as well as autistic traits across both ASC and control groups. These findings establish the presence of a form of "tunnel vision" in ASC, with far-reaching implications for our understanding of the social and neurobiological aspects of autism.
C1 [Robertson, Caroline E.; Kravitz, Dwight J.; Baker, Chris I.] NIMH, Lab Brain & Cognit, NIH, Bethesda, MD 20892 USA.
[Robertson, Caroline E.; Freyberg, Jan; Baron-Cohen, Simon] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge CB2 8AH, England.
RP Robertson, CE (reprint author), NIMH, Lab Brain & Cognit, 10 Ctr Dr, Bethesda, MD 20892 USA.
EM caroline.robertson@nih.gov
FU National Institute of Mental Health; NIH-Cambridge Fellowship; MRC;
Wellcome Trust
FX This work was supported by the Intramural Research Program of the
National Institute of Mental Health, and was conducted in association
with the NIHR CLAHRC for Cambridgeshire and Peterborough NHS Foundation
Trust. We gratefully acknowledge the Gates-Cambridge Trust and the
NIH-Cambridge Fellowship (to C. E. R.). S.B-C. was supported by the MRC
and the Wellcome Trust during the period of this work. We thank Bonnie
Auyeung, Marlene Behrmann, Alex Martin, John Mollon, Kate
Plaisted-Grant, and Teresa Tavassoli for their comments, Carrie Allison
for help with recruitment, and Steffen Losch, Andra Adams, Richard
Bethlehem, and Orian Welling for their help with stimulus design.
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NR 31
TC 8
Z9 8
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 APR 17
PY 2013
VL 33
IS 16
BP 6776
EP 6781
DI 10.1523/JNEUROSCI.5120-12.2013
PG 6
WC Neurosciences
SC Neurosciences & Neurology
GA 127TZ
UT WOS:000317723000009
PM 23595736
ER
PT J
AU Huang, HS
Burns, AJ
Nonneman, RJ
Baker, LK
Riddick, NV
Nikolova, VD
Riday, TT
Yashiro, K
Philpot, BD
Moy, SS
AF Huang, Hsien-Sung
Burns, Andrew J.
Nonneman, Randal J.
Baker, Lorinda K.
Riddick, Natallia V.
Nikolova, Viktoriya D.
Riday, Thorfinn T.
Yashiro, Koji
Philpot, Benjamin D.
Moy, Sheryl S.
TI Behavioral deficits in an Angelman syndrome model: Effects of genetic
background and age
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Angelman syndrome; Conditioned fear; Inbred strain; Morris water maze;
Reversal learning; UBE3A
ID LONG-TERM POTENTIATION; FMR1 KNOCKOUT MICE; FRAGILE-X-SYNDROME; MOUSE
MODEL; UBIQUITIN LIGASE; UBE3A; AUTISM; REVERSAL; CHILDREN; HIPPOCAMPAL
AB Angelman syndrome (AS) is a severe neurodevelopmental disorder associated with disruption of maternally inherited UBE3A (ubiquitin protein ligase E3A) expression. At the present time, there is no effective treatment for AS. Mouse lines with loss of maternal Ube3a (Ube3a(m-/P+)) recapitulate multiple aspects of the clinical AS profile, including impaired motor coordination, learning deficits, and seizures. Thus, these genetic mouse models could serve as behavioral screens for preclinical efficacy testing, a critical component of drug discovery for AS intervention. However, the severity and consistency of abnormal phenotypes reported in Ube3a(m-/P+) mice can vary, dependent upon age and background strain, which is problematic for the detection of beneficial drug effects. As part of an ongoing AS drug discovery initiative, we characterized Ube3a(m-/P+) mice on either a 129S7/SvEvBrd-Hprt(b-m2) (129) or C57BL/6J (B6) background across a range of functional domains and ages to identify reproducible and sufficiently large phenotypes suitable for screening therapeutic compounds. The results from the study showed that Ube3a(m-/P+) mice have significant deficits in acquisition and reversal learning in the Morris water maze. The findings also demonstrated that Ube3a(m-/P+) mice exhibit motor impairment in a rotarod task, hypoactivity, reduced rearing and marble-burying, and deficient fear conditioning. Overall, these profiles of abnormal phenotypes can provide behavioral targets for evaluating effects of novel therapeutic strategies relevant to AS. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Huang, Hsien-Sung; Burns, Andrew J.; Riday, Thorfinn T.; Yashiro, Koji; Philpot, Benjamin D.] Univ N Carolina, Sch Med, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USA.
[Nonneman, Randal J.; Baker, Lorinda K.; Riddick, Natallia V.; Philpot, Benjamin D.; Moy, Sheryl S.] Univ N Carolina, Sch Med, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA.
[Baker, Lorinda K.; Riddick, Natallia V.; Nikolova, Viktoriya D.; Moy, Sheryl S.] Univ N Carolina, Sch Med, Dept Psychiat, Chapel Hill, NC 27599 USA.
[Philpot, Benjamin D.] Univ N Carolina, Sch Med, UNC Neurosci Ctr, Chapel Hill, NC 27599 USA.
RP Philpot, BD (reprint author), Univ N Carolina, Sch Med, CB 7545,115 Mason Farm Rd, Chapel Hill, NC 27599 USA.
EM bphilpot@med.unc.edu; ssmoy@med.unc.edu
FU Simons Foundation; Angelman Syndrome Foundation; NIMH [1R01MH093372];
NICHD [P3OHD03110]
FX The authors wish to thank Dr. Yong-hui Jiang for his kind generosity in
providing Ube3a breeding pairs for our colony. This work was supported
by the Simons Foundation, the Angelman Syndrome Foundation, NIMH grant
1R01MH093372 to BDP, and NICHD grant P3OHD03110 to Dr. Joe Piven. These
sponsors did not have involvement in study design, data collection,
analysis, or interpretation, writing the report, or decision to submit
the article for publication.
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NR 34
TC 12
Z9 12
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0166-4328
J9 BEHAV BRAIN RES
JI Behav. Brain Res.
PD APR 15
PY 2013
VL 243
BP 79
EP 90
DI 10.1016/j.bbr.2012.12.052
PG 12
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 125MH
UT WOS:000317543400012
PM 23295389
ER
PT J
AU Vazquez-Sanroman, D
Sanchis-Segura, C
Toledo, R
Hernandez, ME
Manzo, J
Miquel, M
AF Vazquez-Sanroman, D.
Sanchis-Segura, C.
Toledo, R.
Hernandez, M. E.
Manzo, J.
Miquel, M.
TI The effects of enriched environment on BDNF expression in the mouse
cerebellum depending on the length of exposure
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Cerebellum; Mice; Enriched environment; BDNF; Purkinje
ID NEUROTROPHIC FACTOR; HIPPOCAMPAL NEUROGENESIS; DENTATE GYRUS; C57BL/6J
MICE; BRAIN; INCREASES; BEHAVIOR; NEURONS; RATS; RECEPTOR
AB Environmental enrichment (EE) has been proposed as a factor that improves neuronal connectivity and brain plasticity. The induction of molecular mechanisms that takes place in the cortex, nucleus accumbens and hippocampus resulting from exposure to EE has been attributed partly to the role of neurotrophins as brain-derived neurotrophic factor (BDNF). Recent data directly implicate this neurotrophin in the modulation of plasticity changes in the cerebellum produced by living under environmental enrichment. In the present study, we aimed to assess the effects of different lengths of exposure to EE on cerebellar BDNF expression and western blotting analysis. On the whole, the present data has shown that BDNF increased under EE. However, changes in expression as a result of extending the duration of EE were only seen in Purkinje neurons. In Purkinje neurons, long-term exposure was required in order to fully express this neurotrophin. These data support BDNF as one of the long-term plasticity mechanisms induced by environment, suggesting that cerebellar plasticity can be stimulated as a response to challenges generated by environment. Our findings could have functional implications for various neurodegenerative disorders such as spinocerebellar ataxias, autism, schizophrenia and certain prion encephalopathies, most of them pathologies which have demonstrated to be characterized by alterations in Purkinje neurons and to show a partial recovery by exposure to EE. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Vazquez-Sanroman, D.; Sanchis-Segura, C.; Miquel, M.] Univ Jaume 1, Area Psicobiol, Castellon De La Plana, Spain.
[Toledo, R.; Hernandez, M. E.; Manzo, J.] Univ Veracruzana, Ctr Invest Cerebrates, Xalapa 91000, Veracruz, Mexico.
RP Miquel, M (reprint author), Univ Jaume 1, Area Psicobiol, Ave Sos Baynat S-N, Castellon de La Plana 12071, Spain.
EM miquel@psb.uji.es
RI MIQUEL, MARTA/A-6522-2008
OI MIQUEL, MARTA/0000-0001-9670-4210
FU El Ministerio de Ciencia e Innovacion [PSI2008-01317/PSIC]; Secretaria
General de Universidades del Ministerio de Educacion [SAB2009-0159];
Bancaixa [P1.1A2008-17, P1.1B2011-42]
FX This work was supported by grants from El Ministerio de Ciencia e
Innovacion [PSI2008-01317/PSIC]; Secretaria General de Universidades del
Ministerio de Educacion [SAB2009-0159]; Bancaixa [P1.1A2008-17] and
Bancaixa (P1.1B2011-42).
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NR 54
TC 11
Z9 11
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0166-4328
J9 BEHAV BRAIN RES
JI Behav. Brain Res.
PD APR 15
PY 2013
VL 243
BP 118
EP 128
DI 10.1016/j.bbr.2012.12.047
PG 11
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 125MH
UT WOS:000317543400017
PM 23295397
ER
PT J
AU Pearson, BL
Corley, MJ
Vasconcellos, A
Blanchard, DC
Blanchard, RJ
AF Pearson, Brandon L.
Corley, Michael J.
Vasconcellos, Amy
Blanchard, D. Caroline
Blanchard, Robert J.
TI Heparan sulfate deficiency in autistic postmortem brain tissue from the
subventricular zone of the lateral ventricles
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Autism; Postmortem; Subventricular zone; Extracellular matrix; Heparan
sulfate; Neurogenesis
ID AGE-RELATED-CHANGES; NEURAL STEM-CELLS; PLUS TF/J MICE; SPECTRUM
DISORDERS; ADULT BRAIN; RAT-BRAIN; CHILDREN; PROTEOGLYCANS; NUMBER;
NICHE
AB Abnormal cellular growth and organization have been characterized in postmortem tissue from brains of autistic individuals, suggestive of pathology in a critical neurogenic niche, the subventricular zone (SVZ) of the brain lateral ventricles (LV). We examined cellular organization, cell proliferation, and constituents of the extracellular matrix such as N-sulfated heparan sulfate (HS) and laminin (LAM) in postmortem brain tissue from the LV-SVZ of young to elderly individuals with autism (n = 4) and age-matched typically developing (TD) individuals (n = 4) using immunofluorescence techniques. Strong and systematic reductions in HS immunofluorescence were observed in the LV-SVZ of the TD individuals with increasing age. For young through mature, but not elderly, autistic pair members, HS was reduced compared to their matched TDs. Cellular proliferation (Ki67+) was higher in the autistic individual of the youngest age-matched pair. These preliminary data suggesting that HS may be reduced in young to mature autistic individuals are in agreement with previous findings from the BTBR T+ tf/J mouse, an animal model of autism; from mice with genetic modifications reducing HS; and with genetic variants in HS-related genes in autism. They suggest that aberrant extracellular matrix glycosaminoglycan function localized to the subventricular zone of the lateral ventricles may be a biomarker for autism, and potentially involved in the etiology of the disorder. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Pearson, Brandon L.; Corley, Michael J.; Blanchard, Robert J.] Univ Hawaii, Dept Psychol, Honolulu, HI 96822 USA.
[Pearson, Brandon L.] Univ N Carolina, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USA.
[Corley, Michael J.; Vasconcellos, Amy; Blanchard, D. Caroline] Univ Hawaii, Pacific Biosci Res Inst, Honolulu, HI 96822 USA.
RP Blanchard, DC (reprint author), Univ Hawaii, Pacific Biosci Res Inst, 1993 East West Rd, Honolulu, HI 96822 USA.
EM blanchar@hawaii.edu
FU NIH [R01 MH081845]; PHS [R24 MH 068855]; NICHD Brain and Tissue Bank
FX Funded by NIH R01 MH081845 to RJB. We are grateful for the contributions
of Autism Tissue Program of Autism Speaks, the Harvard Brain Tissue
Resource Center, which is supported in part by PHS grant number R24 MH
068855, and the NICHD Brain and Tissue Bank. We are especially grateful
to the families who donated specimens.
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NR 57
TC 4
Z9 4
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0166-4328
J9 BEHAV BRAIN RES
JI Behav. Brain Res.
PD APR 15
PY 2013
VL 243
BP 138
EP 145
DI 10.1016/j.bbr.2012.12.062
PG 8
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 125MH
UT WOS:000317543400019
PM 23318464
ER
PT J
AU Jones-Davis, DM
Yang, M
Rider, E
Osbun, NC
da Gente, GJ
Li, J
Katz, AM
Weber, MD
Sen, S
Crawley, J
Sherr, EH
AF Jones-Davis, Dorothy M.
Yang, Mu
Rider, Eric
Osbun, Nathan C.
da Gente, Gilberto J.
Li, Jiang
Katz, Adam M.
Weber, Michael D.
Sen, Saunak
Crawley, Jacqueline
Sherr, Elliott H.
TI Quantitative Trait Loci for Interhemispheric Commissure Development and
Social Behaviors in the BTBR T+ tf/J Mouse Model of Autism
SO PLOS ONE
LA English
DT Article
ID CORPUS-CALLOSUM; SPECTRUM DISORDERS; WHITE-MATTER; T+TF/J MICE; STRAINS;
SOCIABILITY; RECURRENCE; PHENOTYPES; AGENESIS; DEFICITS
AB Background: Autism and Agenesis of the Corpus Callosum (AgCC) are interrelated behavioral and anatomic phenotypes whose genetic etiologies are incompletely understood. We used the BTBR T+ tf/ J (BTBR) strain, exhibiting fully penetrant AgCC, a diminished hippocampal commissure, and abnormal behaviors that may have face validity to autism, to study the genetic basis of these disorders.
Methods: We generated 410 progeny from an F2 intercross between the BTBR and C57BL/ 6J strains. The progeny were phenotyped for social behaviors (as juveniles and adults) and commisural morphology, and genotyped using 458 markers. Quantitative trait loci (QTL) were identified using genome scans; significant loci were fine-mapped, and the BTBR genome was sequenced and analyzed to identify candidate genes.
Results: Six QTL meeting genome-wide significance for three autism-relevant behaviors in BTBR were identified on chromosomes 1, 3, 9, 10, 12, and X. Four novel QTL for commissural morphology on chromosomes 4, 6, and 12 were also identified. We identified a highly significant QTL (LOD score = 20.2) for callosal morphology on the distal end of chromosome 4.
Conclusions: We identified several QTL and candidate genes for both autism-relevant traits and commissural morphology in the BTBR mouse. Twenty-nine candidate genes were associated with synaptic activity, axon guidance, and neural development. This is consistent with a role for these processes in modulating white matter tract development and aspects of autism-relevant behaviors in the BTBR mouse. Our findings reveal candidate genes in a mouse model that will inform future human and preclinical studies of autism and AgCC.
C1 [Jones-Davis, Dorothy M.; Rider, Eric; Osbun, Nathan C.; da Gente, Gilberto J.; Li, Jiang; Sherr, Elliott H.] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA.
[Yang, Mu; Katz, Adam M.; Weber, Michael D.; Crawley, Jacqueline] NIMH, Lab Behav Neurosci, Intramural Res Program, NIH, Bethesda, MD 20892 USA.
[Sen, Saunak] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA.
RP Sherr, EH (reprint author), Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA.
EM sherre@neuropeds.ucsf.edu
FU Pfizer, Inc. [P0030953]; MH02179 from the National Institute of Mental
Health Intramural Research Program [MH02179]; National Institutes of
Health [K02NS052192, NS062173]; National Institute of General Medical
Sciences/National Institutes of Health [K12GM081266]
FX This work was supported by Grant P0030953 from Pfizer,
Inc.(http://www.pfizer.com) to Dr. Elliott Sherr. Dr. Mathew Pletcher
(employed by Pfizer, Inc.) provided suggestions in the design and
interpretation of the study, and Dr. Nicholas Brandon (employed by
Pfizer, Inc.) provided a critical reading of the manuscript. This work
was also supported by Award MH02179 from the National Institute of
Mental Health Intramural Research Program to Dr. Jacqueline Crawley and
Dr. Mu Yang, National Institutes of Health Awards K02NS052192 and
NS062173 to Dr.Elliott Sherr, and Award Number K12GM081266 from the
National Institute of General Medical Sciences/National Institutes of
Health (http://projectreporter.nih.gov/project_ info_ description.cfm?
aid = 7869455& icde = 12962536& ddparam = & ddvalue = & ddsub = & cr =
443& csb = GNA& cs = ASC) to Dr. Dorothy Jones-Davis. The funders had no
role in study design, data collection and analysis, decision to publish,
or preparation of the manuscript.
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Zahir FR, 2011, PEDIATR RES, V69, p92R, DOI 10.1203/PDR.0b013e318213565e
NR 42
TC 7
Z9 7
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 APR 15
PY 2013
VL 8
IS 4
AR e61829
DI 10.1371/journal.pone.0061829
PG 13
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 125TD
UT WOS:000317563300039
PM 23613947
ER
PT J
AU Johnson, V
AF Johnson, Virginia
TI What Color Is Monday? How Autism Changed One Family for the Better
SO LIBRARY JOURNAL
LA English
DT Book Review
C1 [Johnson, Virginia] Weymouth Publ Lib, Weymouth, MA 02190 USA.
RP Johnson, V (reprint author), Weymouth Publ Lib, Weymouth, MA 02190 USA.
CR CARIELLO C, 2013, WHAT COLOR IS MONDAY
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 APR 15
PY 2013
VL 138
IS 7
BP 94
EP 94
PG 1
WC Information Science & Library Science
SC Information Science & Library Science
GA 124IW
UT WOS:000317458000192
ER
PT J
AU Jordan, L
AF Jordan, Lisa
TI Silently Seizing: Common, Unrecognized and Frequently Missed Seizures
and Their Potentially Damaging Impact on Individuals with Autism
Spectrum Disorders; An Essential Guide for Parents and Professionals
SO LIBRARY JOURNAL
LA English
DT Book Review
C1 [Jordan, Lisa] Johnson Cty Lib, Overland Pk, KS 66212 USA.
RP Jordan, L (reprint author), Johnson Cty Lib, Overland Pk, KS 66212 USA.
CR HAINES C, 2012, SILENTLY SEIZING COM
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 APR 15
PY 2013
VL 138
IS 7
BP 94
EP 94
PG 1
WC Information Science & Library Science
SC Information Science & Library Science
GA 124IW
UT WOS:000317458000194
ER
PT J
AU Gilaie-Dotan, S
Hahamy-Dubossarsky, A
Nir, Y
Berkovich-Ohana, A
Bentin, S
Malach, R
AF Gilaie-Dotan, Sharon
Hahamy-Dubossarsky, Avital
Nir, Yuval
Berkovich-Ohana, Aviva
Bentin, Shlomo
Malach, Rafael
TI Resting state functional connectivity reflects abnormal task-activated
patterns in a developmental object agnosic
SO NEUROIMAGE
LA English
DT Article
DE Developmental object agnosia; fMRI; Visual cortex; Deactivations;
Intermediate visual areas
ID BRAINS DEFAULT NETWORK; HUMAN VISUAL-CORTEX; CEREBRAL-CORTEX;
FLUCTUATIONS; ARCHITECTURE; SCHIZOPHRENIA; ORGANIZATION; DISEASE;
AUTISM; AREAS
AB Even in the absence of stimulation or task, the cerebral cortex shows an incessant pattern of ultra slow fluctuations which are coherent across brain regions. In the healthy brain these coherent patterns (also termed resting state functional connectivity) often exhibit spatial similarity to the large scale organization of task-induced functional networks. However, it is not clear to what extent the resting state patterns can also reflect task-induced abnormalities in cortical activations which are often detected in various brain pathologies. Here we examined whether an abnormal visual activation pattern is recapitulated in the resting state functional connectivity. We examined LG, a sighted young adult with developmental object agnosia and no apparent cortical structural abnormality. We have previously reported that upon visual stimulation, LG's intermediate visual areas (V2, V3) are paradoxically deactivated. Here, examining LG's resting state functional connectivity revealed the same pattern of functional abnormality including a strong atypical decorrelation between areas V2-V3 and the rest of the visual system. Thus, our results suggest that resting-state functional connectivity could provide a powerful tool which could complement task-specific paradigms in detecting task-related abnormalities in cortical activity without resorting to task performance. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Gilaie-Dotan, Sharon] UCL, Inst Cognit Neurosci, London, England.
[Hahamy-Dubossarsky, Avital; Berkovich-Ohana, Aviva; Malach, Rafael] Weizmann Inst Sci, Dept Neurobiol, IL-76100 Rehovot, Israel.
[Nir, Yuval] Univ Wisconsin, Dept Psychiat, Madison, WI 53719 USA.
[Bentin, Shlomo] Hebrew Univ Jerusalem, Dept Psychol, IL-91905 Jerusalem, Israel.
[Bentin, Shlomo] Hebrew Univ Jerusalem, Interdisciplinary Ctr Neural Computat, Jerusalem, Israel.
RP Malach, R (reprint author), Weizmann Inst Sci, Dept Neurobiol, IL-76100 Rehovot, Israel.
EM rafi.malach@gmail.com
FU Marie-Curie IEF fellowship; EU; Helen and Martin Kimmel award; Human
Frontier Science Program Organization long-term fellowship; NIMH [R01 MH
64458-10]
FX We would like to thank Michal Harel for her support in brain
reconstruction and data analysis. This study was supported by a
Marie-Curie IEF fellowship (S.G.-D.), the EU FP7 VERE grant (R.M.), the
Helen and Martin Kimmel award (R.M.), the Human Frontier Science Program
Organization long-term fellowship (Y.N.), and NIMH grant R01 MH 64458-10
(S.B.).
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NR 51
TC 3
Z9 3
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1053-8119
J9 NEUROIMAGE
JI Neuroimage
PD APR 15
PY 2013
VL 70
BP 189
EP 198
DI 10.1016/j.neuroimage.2012.12.049
PG 10
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA 100LX
UT WOS:000315703800019
PM 23296180
ER
PT J
AU Ellegood, J
Babineau, BA
Henkelman, RM
Lerch, JP
Crawley, JN
AF Ellegood, Jacob
Babineau, Brooke A.
Henkelman, R. Mark
Lerch, Jason P.
Crawley, Jacqueline N.
TI Neuroanatomical analysis of the BTBR mouse model of autism using
magnetic resonance imaging and diffusion tensor imaging
SO NEUROIMAGE
LA English
DT Article
DE BTBR T plus tf/J mice; Magnetic resonance imaging; Diffusion tensor
imaging; Behavior
ID T PLUS TF/J; CORPUS-CALLOSUM; ULTRASONIC VOCALIZATIONS; BEHAVIORAL
PHENOTYPES; REPETITIVE BEHAVIOR; UNUSUAL REPERTOIRE; INBRED STRAINS;
SCENT-MARKING; C57BL/6J MICE; SOCIAL BRAIN
AB Autism is a neurodevelopmental disorder characterized by abnormal reciprocal social interactions, communication deficits, and repetitive behaviors with restricted interests. Autism-relevant phenotypes in the inbred mouse strain BTBR T + tf/J (BTBR) offer translational tools to discover biological mechanisms underlying unusual mouse behaviors analogous to symptoms of autism. Two of the most consistent findings with BTBR are lack of sociability as measured by the three-chamber social approach task and increased amount of time engaged in self-grooming in an empty cage. Here we evaluated BTBR as compared to two typical inbred strains with high sociability and low self-grooming, C57BL/6J (B6) and FVB/AntJ (FVB), on both the automated three-chambered social approach task and repetitive self-grooming assays. Brains from the behaviorally tested mice were analyzed using magnetic resonance imaging and diffusion tensor imaging to investigate potential neuroanatomical abnormalities throughout the brain; specifically, to discover neuroanatomical mechanisms which could explain the autism-relevant behavioral abnormalities. Significant differences in volume and white matter microstructure were detected in multiple anatomical regions throughout the brain of BTBR compared to B6 and FVB. Further, significant correlations were found between behavioral measures and areas of the brain known to be associated with those behaviors. For example, striatal volume was strongly correlated to time spent in self-grooming across strains. Our findings suggest that neuropathology exists in BTBR beyond the previously reported white matter abnormalities in the corpus callosum and hippocampal commissure and that these brain differences may be related to the behavioral abnormalities seen in BTBR. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Ellegood, Jacob; Henkelman, R. Mark; Lerch, Jason P.] Hosp Sick Children, Mouse Imaging Ctr, Toronto, ON M5T 3H7, Canada.
[Henkelman, R. Mark; Lerch, Jason P.] Univ Toronto, Dept Med Biophys, Toronto, ON, Canada.
[Babineau, Brooke A.; Crawley, Jacqueline N.] NIMH, Bethesda, MD 20892 USA.
RP Ellegood, J (reprint author), Hosp Sick Children, Mouse Imaging Ctr, 25 Orde St, Toronto, ON M5T 3H7, Canada.
EM jacob@phenogenomics.ca
RI Henkelman, Mark/F-3662-2011
FU Ontario Mental Health Foundation (OMHF); Canadian Institute for Health
Research (CIHR); National Institute of Mental Health Intramural Research
Program; Ontario Brain Institute (OBI); Ontario government
FX We would like to thank Christine Laliberte for her assistance with the
MRI scanning, Matthijs van Eede and Jan Scholz for help with different
stages of the analysis, and Mu Yang and Jill Silverman for their
assistance with the behavioral tasks and perfusions. We also acknowledge
the Ontario Mental Health Foundation (OMHF) for salary support (Jacob
Ellegood). This research was conducted with the support of the Canadian
Institute for Health Research (CIHR), the National Institute of Mental
Health Intramural Research Program, and the Ontario Brain Institute
(OBI). OBI was created to become an internationally recognized centre of
excellence in brain and neuroscience research. This independent
non-profit corporation, funded partially by the Ontario government, is
dedicated to improving approaches to the prevention, early diagnosis,
treatment and management of neurological, and psychiatric disorders. The
opinions, results, and conclusions are those of the authors and no
endorsement by any of the agencies is intended or should be inferred.
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NR 85
TC 16
Z9 17
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1053-8119
J9 NEUROIMAGE
JI Neuroimage
PD APR 15
PY 2013
VL 70
BP 288
EP 300
DI 10.1016/j.neuroimage.2012.12.029
PG 13
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA 100LX
UT WOS:000315703800029
PM 23275046
ER
PT J
AU Eigsti, IM
AF Eigsti, Inge-Marie
TI A review of embodiment in autism spectrum disorders
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Review
DE autism; ASD; embodiment; gesture; mimicry
ID HIGH-FUNCTIONING AUTISM; MIRROR NEURON SYSTEM; DEVELOPMENTAL
COORDINATION DISORDER; JOINT ATTENTION; YOUNG-CHILDREN; SENTENCE
COMPREHENSION; LANGUAGE-DEVELOPMENT; ASPERGERS SYNDROME; BIOLOGICAL
MOTION; VISUAL-PERCEPTION
AB In classical approaches to cognition, sensory, motor, and emotional experiences are stripped of domain-specific perceptual and sensorimotor information, and represented in a relatively abstract form. In contrast, the embodied cognition framework suggests that our representations retain the initial imprint of the manner in which information was acquired. In this paper, we argue that individuals with autism spectrum disorders (ASD) display impairments in the temporal coordination of motor and conceptual information (as shown in gesture research) and striking deficits in the interpersonal mimicry of motor behaviors (as shown in yawning research) findings we believe are consistent with an embodied account of ASD that includes, but goes beyond, social experiences and is driven in part by significant but subtle motor deficits. In this paper, we review the research examining an embodied cognition account of ASD, and discuss its implications.
C1 Univ Connecticut, Dept Psychol, Storrs, CT 06269 USA.
RP Eigsti, IM (reprint author), Univ Connecticut, Dept Psychol, 406 Babbidge Rd,U-1020, Storrs, CT 06269 USA.
EM inge-marie.eigsti@uconn.edu
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NR 134
TC 4
Z9 4
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD APR 13
PY 2013
VL 4
AR 224
DI 10.3389/fpsyg.2013.00224
PG 10
WC Psychology, Multidisciplinary
SC Psychology
GA AA2PE
UT WOS:000330935700001
PM 23641226
ER
PT J
AU El-Ansary, A
Shaker, GH
El-Gezeery, AR
Al-Ayadhi, L
AF El-Ansary, Afaf
Shaker, Ghada H.
El-Gezeery, Amina R.
Al-Ayadhi, Laila
TI The neurotoxic effect of clindamycin - induced gut bacterial imbalance
and orally administered propionic acid on DNA damage assessed by the
comet assay: protective potency of carnosine and carnitine
SO GUT PATHOGENS
LA English
DT Article
DE Propionic acid; Clindamycin; Tail length; Tail moment; Carnosine;
Carnitine; Autism; Neurotoxicity
ID AUTISTIC SPECTRUM DISORDERS; ANTIOXIDANT ACTIVITY; SOCIAL-BEHAVIOR; RATS
RELEVANCE; CHILDREN; BRAIN; METABOLISM; DIPEPTIDES; HISTIDINE; PRODUCT
AB Background: Comet assay is a quick method for assessing DNA damage in individual cells. It allows the detection of single and double DNA strand breaks, which represent the direct effect of some damaging agents. This study uses standard comet quantification models to compare the neurotoxic effect of orally administered propionic acid (PA) to that produced as a metabolite of bacterial overgrowth induced by clindamycin. Additionally, the protective effect of carnosine and carnitine as natural dietary supplements is assessed.
Methods: Single cell gel electrophoresis (comet assays) were performed on brain cortex and medulla samples after removal from nine groups of hamsters including: a control (untreated) group; PA-intoxicated group; clindamycin treated group; clindamycin-carnosine group and; clindamycin-carnitine group.
Results: There were significant double strand breaks recorded as tail length, tail moment and % DNA damage in PA and clindamycin-treated groups for the cortex and medulla compared to the control group. Neuroprotective effects of carnosine and carnitine were observed. Receiver Operating Characteristics curve (ROC) analysis showed satisfactory values of sensitivity and specificity of the comet assay parameters.
Conclusion: Percentage DNA damage, tail length, and tail moment are adequate biomarkers of PA neurotoxicity due to oral administration or as a metabolite of induced enteric bacterial overgrowth. Establishing biomarkers of these two exposures is important for protecting children's health by documenting the role of the imbalance in gut microbiota in the etiology of autism through the gut-brain axis. These outcomes will help efforts directed at controlling the prevalence of autism, a disorder recently related to PA neurotoxicity.
C1 [El-Ansary, Afaf; El-Gezeery, Amina R.] King Saud Univ, Coll Sci, Dept Biochem, Riyadh 11495, Saudi Arabia.
[El-Ansary, Afaf; Al-Ayadhi, Laila] King Saud Univ, Fac Med, Dept Physiol, Riyadh 11495, Saudi Arabia.
[Al-Ayadhi, Laila] Autism Res & Treatment Ctr, Riyadh, Saudi Arabia.
[El-Ansary, Afaf; Al-Ayadhi, Laila] King Saud Univ, Shaik AL Amodi Autism Res Chair, Riyadh 11495, Saudi Arabia.
[Shaker, Ghada H.] Zagazig Univ, Coll Pharm, Dept Microbiol & Immunol, Zagazig, Egypt.
RP El-Ansary, A (reprint author), King Saud Univ, Coll Sci, Dept Biochem, POB 22452, Riyadh 11495, Saudi Arabia.
EM elansary@ksu.edu.sa
FU research centre for female scientific and medical colleges in King Saud
University
FX This research project was supported by a grant from the research centre
for female scientific and medical colleges in King Saud University.
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NR 47
TC 2
Z9 2
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1757-4749
J9 GUT PATHOG
JI Gut Pathogens
PD APR 12
PY 2013
VL 5
AR 9
DI 10.1186/1757-4749-5-9
PG 10
WC Gastroenterology & Hepatology; Microbiology
SC Gastroenterology & Hepatology; Microbiology
GA 143XA
UT WOS:000318901300001
PM 23587115
ER
PT J
AU Vanderwert, RE
Fox, NA
Ferrari, PF
AF Vanderwert, Ross E.
Fox, Nathan A.
Ferrari, Pier F.
TI The mirror mechanism and mu rhythm in social development
SO NEUROSCIENCE LETTERS
LA English
DT Review
DE Mirror neurons; EEG; Infancy; Social cognition; Imitation; Humans;
Rhesus macaques
ID AUTISM SPECTRUM DISORDERS; VENTRAL PREMOTOR CORTEX; NEURON SYSTEM;
INFERIOR PARIETAL; EEG EVIDENCE; ACTION ORGANIZATION; OTHERS ACTIONS;
HUMAN INFANTS; MOTOR SYSTEM; IMITATION
AB Since the discovery of mirror neurons (MNs) in the monkey there has been a renewed interest in motor theories of cognitive and social development in humans by providing a potential neural mechanism underlying an action observation/execution matching system. It has been proposed that this system plays a fundamental role in the development of complex social and cognitive behaviors such as imitation and action recognition. In this review we discuss what is known about MNs from the work using single-cell recordings in the adult monkey, the evidence for the putative MN system in humans, and the extent to which research using electroencephalography (EEG) methods has contributed to our understanding of the development of these motor systems and their role in the social behaviors postulated by the MN hypothesis. We conclude with directions for future research that will improve our understanding of the putative human MN system and the functional role of MNs in social development. (C) 2012 Elsevier Ireland Ltd. All rights reserved.
C1 [Vanderwert, Ross E.; Fox, Nathan A.] Univ Maryland, Dept Human Dev, College Pk, MD 20742 USA.
[Ferrari, Pier F.] Univ Parma, Dipartimento Neurosci, I-43100 Parma, Italy.
[Vanderwert, Ross E.] Childrens Hosp Boston, Div Dev Med, Labs Cognit Neurosci, Boston, MA USA.
RP Ferrari, PF (reprint author), Univ Parma, Dipartimento Neurosci, Via Volturno 39, I-43100 Parma, Italy.
EM pierfrancesco.ferrari@unipr.it
FU NIH [P01HD064653-01]; division of Intramural Research, NICHD
FX This research was supported by P01HD064653-01 NIH grant to PFF and NAF,
and division of Intramural Research, NICHD.
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NR 78
TC 12
Z9 13
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0304-3940
J9 NEUROSCI LETT
JI Neurosci. Lett.
PD APR 12
PY 2013
VL 540
SI SI
BP 15
EP 20
DI 10.1016/j.neulet.2012.10.006
PG 6
WC Neurosciences
SC Neurosciences & Neurology
GA 136RX
UT WOS:000318382200003
PM 23063953
ER
PT J
AU Hickok, G
Sinigaglia, C
AF Hickok, Gregory
Sinigaglia, Corrado
TI Clarifying the role of the mirror system
SO NEUROSCIENCE LETTERS
LA English
DT Review
DE Mirror neurons
ID ACTION ORGANIZATION; SPEECH-PERCEPTION; INTENTION; NEURONS; AUTISM
C1 [Hickok, Gregory] Univ Calif Irvine, Dept Cognit Sci, Irvine, CA 92697 USA.
[Sinigaglia, Corrado] Univ Milan, Dipartimento Filosofia, I-20122 Milan, Italy.
RP Hickok, G (reprint author), Univ Calif Irvine, Dept Cognit Sci, Irvine, CA 92697 USA.
EM Greg.hickok@uci.edu; corrado.sinigaglia@unimi.it
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TC 3
Z9 4
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0304-3940
J9 NEUROSCI LETT
JI Neurosci. Lett.
PD APR 12
PY 2013
VL 540
SI SI
BP 62
EP 66
DI 10.1016/j.neulet.2012.11.029
PG 5
WC Neurosciences
SC Neurosciences & Neurology
GA 136RX
UT WOS:000318382200010
ER
PT J
AU Parish-Morris, J
Chevallier, C
Tonge, N
Letzen, J
Pandey, J
Schultz, RT
AF Parish-Morris, Julia
Chevallier, Coralie
Tonge, Natasha
Letzen, Janelle
Pandey, Juhi
Schultz, Robert T.
TI Visual attention to dynamic faces and objects is linked to face
processing skills: a combined study of children with autism and controls
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE autism; eye tracking; face processing; eyetracking; autism spectrum
disorder; ASD
ID RESEARCH DOMAIN CRITERIA; HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS;
ASPERGER-SYNDROME; RECOGNITION; PATTERNS; INDIVIDUALS; DISCRIMINATION;
IMPAIRMENT; PERCEPTION
AB Although the extant literature on face recognition skills in Autism Spectrum Disorder (ASD) shows clear impairments compared to typically developing controls (TDC) at the group level, the distribution of scores within ASD is broad. In the present research, we take a dimensional approach and explore how differences in social attention during an eye tracking experiment correlate with face recognition skills across ASD and TDC. Emotional discrimination and person identity perception face processing skills were assessed using the Let's Face It! Skills Battery in 110 children with and without ASD. Social attention was assessed using infrared eye gaze tracking during passive viewing of movies of facial expressions and objects displayed together on a computer screen. Face processing skills were significantly correlated with measures of attention to faces and with social skills as measured by the Social Communication Questionnaire (SCQ). Consistent with prior research, children with ASD scored significantly lower on face processing skills tests but, unexpectedly, group differences in amount of attention to faces (vs. objects) were not found. We discuss possible methodological contributions to this null finding. We also highlight the importance of a dimensional approach for understanding the developmental origins of reduced face perception skills, and emphasize the need for longitudinal research to truly understand how social motivation and social attention influence the development of social perceptual skills.
C1 [Parish-Morris, Julia; Schultz, Robert T.] Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA.
[Parish-Morris, Julia; Schultz, Robert T.] Univ Penn, Dept Psychiat, Perelman Sch Med, Philadelphia, PA 19104 USA.
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[Letzen, Janelle] Univ Florida, Dept Clin & Hlth Psychol, Gainesville, FL USA.
RP Schultz, RT (reprint author), Childrens Hosp Philadelphia, Ctr Autism Res, 3535 Market St,8th Floor,Suite 860, Philadelphia, PA 19104 USA.
EM schultzrt@email.chop.edu
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NR 40
TC 4
Z9 4
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD APR 10
PY 2013
VL 4
AR 185
DI 10.3389/fpsyg.2013.00185
PG 7
WC Psychology, Multidisciplinary
SC Psychology
GA AA1HE
UT WOS:000330846400001
PM 23596436
ER
PT J
AU Babineau, BA
Yang, M
Berman, RF
Crawley, JN
AF Babineau, Brooke A.
Yang, Mu
Berman, Robert F.
Crawley, Jacqueline N.
TI Low home cage social behaviors in BTBR T plus tf/J mice during juvenile
development
SO PHYSIOLOGY & BEHAVIOR
LA English
DT Article
DE Inbred strain; Home cage observation; Social interaction
ID INBRED MOUSE STRAINS; ULTRASONIC VOCALIZATIONS; UNUSUAL REPERTOIRE;
SCENT-MARKING; T+TF/J MICE; AUTISM; MODEL; C57BL/6J; SOCIABILITY;
PHENOTYPES
AB BTBR T+tf/J (BTBR) is a genetically homogenous inbred strain of mice that displays abnormal social behaviors, deficits in vocalizations, and high levels of repetitive behaviors, relevant to the three diagnostic symptoms of autism spectrum disorder, leading to the use of this strain as a mouse model of autism. Comprehensive observations of BTBR social behaviors within the home cage during early stages of development have not been conducted. Here we evaluate the home cage behaviors of BTBR in two laboratory environments (NIMH, Bethesda, Maryland vs. UC Davis, Davis, California), starting from the day of weaning and continuing into adulthood. Extensive ethogram parameters were scored for BTBR in home cages that contained four BTBR conspecifics, versus home cages that contained four C57BL/6 J (B6) conspecifics. BTBR were considerably less interactive than B6 in the home cage at both sites, as measured during the early dark stage of their circadian cycle. A novel home cage behavioral measure, frequency of long interactions, was found to be more frequent and of longer duration in B6 versus BTBR home cages across experimental sites. Significant strain differences in the occurrence of investigative and affiliative behaviors were also seen, however these findings were not fully consistent across the two testing sites. At the end of the 30-day home cage observation period, each seven-week old subject mouse was tested in the three-chambered social approach task. BTBR displayed lack of sociability and B6 displayed significant sociability, consistent with previous reports. Our findings reveal that BTBR engaged in lower levels of some components of spontaneous conspecific social interactions in the home cage environment throughout juvenile development, consistent with their deficits in juvenile and adult sociability as measured in specialized social tasks. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Babineau, Brooke A.; Yang, Mu; Crawley, Jacqueline N.] NIMH, Intramural Res Program, Lab Behav Neurosci, Bethesda, MD 20892 USA.
[Berman, Robert F.] Univ Calif Davis, Dept Neurol Surg, Davis, CA 95616 USA.
RP Babineau, BA (reprint author), Univ Calif San Francisco, Sch Med, 513 Parnassus Ave HSE-901, San Francisco, CA 94143 USA.
EM Brooke.Babineau@ucsf.edu
FU National Institute of Mental Health
FX Supported by the National Institute of Mental Health Intramural Research
Program.
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NR 31
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0031-9384
J9 PHYSIOL BEHAV
JI Physiol. Behav.
PD APR 10
PY 2013
VL 114
BP 49
EP 54
DI 10.1016/j.physbeh.2013.03.006
PG 6
WC Psychology, Biological; Behavioral Sciences
SC Psychology; Behavioral Sciences
GA 156VZ
UT WOS:000319853300008
PM 23510981
ER
PT J
AU Kohlstadt, I
Wharton, G
AF Kohlstadt, Ingrid
Wharton, Gerold
TI Clinician uptake of obesity-related drug information: a qualitative
assessment using continuing medical education activities
SO NUTRITION JOURNAL
LA English
DT Article
DE Medication effects on appetite; Insulin resistance; Drug-related weight
gain; Mental illness as a risk factor for obesity; Adverse metabolic
drug effects; Drug safety research; Nutrition knowledge of primary care
practitioners
ID SAFETY; ADOLESCENTS; CHILDREN; TRIALS
AB Background: Medications necessary for disease management can simultaneously contribute to weight gain, especially in children. Patients with preexisting obesity are more susceptible to medication-related weight gain. How equipped are primary care practitioners at identifying and potentially reducing medication-related weight gain? To inform this question germane to public health we sought to identify potential gaps in clinician knowledge related to metabolic adverse drug effects of weight gain.
Methods: The study analyzed practitioner responses to the pre-activity questions of six continuing medical education (CME) activities from May 2009 through August 2010.
Results: The 20,705 consecutive, self-selected respondents indicated varied levels of familiarity with adverse metabolic effects and psychiatric indications of atypical antipsychotics. Correct responses were lower than predicted for drug indications pertaining to autism (-17% predicted); drug effects on insulin resistance (-62% predicted); chronic disease risk in mental illness (-34% predicted); and drug safety research (-40% predicted). Pediatrician knowledge scores were similar to other primary care practitioners.
Conclusions: Clinicians' knowledge of medication-related weight gain may lead them to overestimate the benefits of a drug in relation to its metabolic risks. The knowledge base of pediatricians appears comparable to their counterparts in adult medicine, even though metabolic drug effects in children have only become prevalent recently.
C1 [Kohlstadt, Ingrid] Johns Hopkins Bloomberg Sch Publ Hlth, Ctr Human Nutr, Annapolis, MD 21401 USA.
[Wharton, Gerold] US FDA, Off Pediat Therapeut, Silver Spring, MD USA.
RP Kohlstadt, I (reprint author), Johns Hopkins Bloomberg Sch Publ Hlth, Ctr Human Nutr, 198 Prince George St, Annapolis, MD 21401 USA.
EM kohlstadt@outlook.com
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NR 19
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1475-2891
J9 NUTR J
JI Nutr. J.
PD APR 10
PY 2013
VL 12
AR 44
DI 10.1186/1475-2891-12-44
PG 9
WC Nutrition & Dietetics
SC Nutrition & Dietetics
GA 132ZN
UT WOS:000318107300001
PM 23575242
ER
PT J
AU Jiang, YH
Ehlers, MD
AF Jiang, Yong-hui
Ehlers, Michael D.
TI Modeling Autism by SHANK Gene Mutations in Mice
SO NEURON
LA English
DT Review
ID POSTSYNAPTIC DENSITY PROTEINS; DE-NOVO MUTATIONS; DENDRITIC SPINE
MORPHOLOGY; 22Q13.3 DELETION SYNDROME; INSULIN-RECEPTOR SUBSTRATE;
PHELAN-MCDERMID SYNDROME; SPECTRUM DISORDERS; MOUSE MODELS; SCAFFOLDING
PROTEINS; MUTANT MICE
AB Shank family proteins (Shank1, Shank2, and Shank3) are synaptic scaffolding proteins that organize an extensive protein complex at the postsynaptic density (PSD) of excitatory glutamatergic synapses. Recent human genetic studies indicate that SHANK family genes (SHANK1, SHANK2, and SHANK3) are causative genes for idiopathic autism spectrum disorders (ASD). Neurobiological studies of Shank mutations in mice support a general hypothesis of synaptic dysfunction in the pathophysiology of ASD. However, the molecular diversity of SHANK family gene products, as well as the heterogeneity in human and mouse phenotypes, pose challenges to modeling human SHANK mutations. Here, we review the molecular genetics of SHANK mutations in human ASD and discuss recent findings where such mutations have been modeled in mice. Conserved features of synaptic dysfunction and corresponding behaviors in Shank mouse mutants may help dissect the pathophysiology of ASD, but also highlight divergent phenotypes that arise from different mutations in the same gene.
C1 [Jiang, Yong-hui] Duke Univ, Sch Med, Dept Pediat, Durham, NC 27710 USA.
[Jiang, Yong-hui] Duke Univ, Sch Med, Dept Neurobiol, Durham, NC 27710 USA.
[Ehlers, Michael D.] Pfizer Worldwide Res & Dev, Neurosci Res Unit, Cambridge, MA 02139 USA.
RP Jiang, YH (reprint author), Duke Univ, Sch Med, Dept Pediat, Durham, NC 27710 USA.
EM yong-hui.jiang@duke.edu; michael.ehlers@pfizer.com
FU Autism Speaks; Phelan-McDermid Syndrome Foundation; NIH
[5K12-HD0043494-08, R01MH098114-01]; Pfizer, Inc.
FX We thank Juliet Hernandez, Benjamin Philpot, Dan Smith, Julia Sommer,
and William Wetsel for critical review of the manuscript. We thank
Xiaoming Wang and Alexandra Bey for help preparing tables and comments.
Work in the lab of Y.-h.J. is supported by Autism Speaks,
Phelan-McDermid Syndrome Foundation, and NIH grants 5K12-HD0043494-08
and R01MH098114-01. Work in the lab of M.D.E. is supported by Pfizer,
Inc., and M.D.E. is an employee and shareholder of Pfizer, Inc.
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NR 138
TC 36
Z9 38
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0896-6273
J9 NEURON
JI Neuron
PD APR 10
PY 2013
VL 78
IS 1
BP 8
EP 27
DI 10.1016/j.neuron.2013.03.016
PG 20
WC Neurosciences
SC Neurosciences & Neurology
GA 125QI
UT WOS:000317556000004
PM 23583105
ER
PT J
AU Sun, X
Allison, C
Matthews, FE
Sharp, SJ
Auyeung, B
Baron-Cohen, S
Brayne, C
AF Sun, Xiang
Allison, Carrie
Matthews, Fiona E.
Sharp, Stephen J.
Auyeung, Bonnie
Baron-Cohen, Simon
Brayne, Carol
TI Prevalence of autism in mainland China, Hong Kong and Taiwan: a
systematic review and meta-analysis
SO MOLECULAR AUTISM
LA English
DT Review
DE Autism spectrum conditions; Prevalence; Screening; Diagnosis; Chinese
population
ID PERVASIVE DEVELOPMENTAL DISORDERS; RATING-SCALE CARS; SPECTRUM
DISORDERS; CHILDHOOD AUTISM; SCREENING INSTRUMENTS; PSYCHOMETRIC
PROPERTIES; BEHAVIOR CHECKLIST; INFANTILE-AUTISM; YOUNG-CHILDREN;
VERSION
AB Background: The prevalence of autism spectrum conditions (ASC) is 1% in developed countries, but little data are available from mainland China, Hong Kong and Taiwan. This study synthesizes evidence relating to the prevalence of ASC in these areas and assesses the effects of research methodology on prevalence estimates.
Methods: Systematic literature searches were conducted in PubMed, Web of Knowledge, China Web of Knowledge and Weipu databases, as well as relevant papers published from 1987 to 2011, reporting prevalence estimates of ASC or childhood autism in mainland China, Hong Kong and Taiwan. Summary estimates of prevalence were calculated with a random effects model. The effects of research methodology on the prevalence estimates were assessed using a meta-regression model.
Results: There were 25 studies eligible for review, 18 of which were suitable for inclusion in a meta-analysis. Pooled prevalence of childhood autism was 11.8 per 10,000 individuals (95% confidence interval (CI): 8.2, 15.3) in mainland China. Pooled prevalence of ASC was 26.6 per 10,000 (95% CI: 18.5, 34.6) in three areas. Substantial heterogeneity was identified between studies (I-2>75%). The prevalence estimate of childhood autism was most strongly associated with the choice of screening instrument. After adjustment for age group, the odds ratio for prevalence estimates when using the Autism Behavior Checklist (ABC) as the screening instrument compared with those using the Clancy Autism Behavior Scale (CABS) was 0.29 (95% CI: 0.12, 0.69), and 1.79 (95% CI: 0.70, 4.55; P= 0.20) when using the Checklist for Autism in Toddlers (CHAT) compared to the CABS.
Conclusions: The available studies investigating the prevalence of ASC in China, Hong Kong and Taiwan have focused mainly on childhood autism rather than the whole spectrum. The prevalence estimates are lower than estimates from developed countries. Studies using more recently developed screening instruments reported higher prevalence than older ones. However, available studies have methodological weaknesses and therefore these results lack comparability with those from developed countries. Our findings indicate a potential under-diagnosis and under-detection of ASC in mainland China, Hong Kong and Taiwan, and a need to adopt more advanced methods for research of ASC in these areas.
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.] Inst Publ Hlth, MRC Biostat Unit, Cambridge CB2 0SR, England.
[Sharp, Stephen J.] Addenbrookes Hosp, MRC Epidemiol Unit, Inst Metab Sci, Cambridge CB2 0QQ, 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 Waterloo Foundation; Peking University First Hospital; Cambridge
Commonwealth Trust; Clare Hall, University of Cambridge; Great
Britain-China Educational Trust; Medical Research Council UK; Wellcome
Trust; NIHR Collaboration for Leadership in Applied Health Research and
Care (CLAHRC)
FX We thank Yu-Tzu Wu for valuable discussions throughout this report. This
study was funded by The Waterloo Foundation and the Peking University
First Hospital. XS was partly funded by the Cambridge Commonwealth Trust
and Clare Hall, University of Cambridge and the Great Britain-China
Educational Trust.. SBC, CA, and BA were funded by the Medical Research
Council UK, the Wellcome Trust, and the team was funded by the NIHR
Collaboration for Leadership in Applied Health Research and Care
(CLAHRC) for Cambridgeshire and Peterborough NHS Foundation Trust during
the period of this work. FM was funded by Medical Research Council UK.
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NR 82
TC 7
Z9 10
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 APR 9
PY 2013
VL 4
AR 7
DI 10.1186/2040-2392-4-7
PG 13
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA 254UN
UT WOS:000327193400001
PM 23570419
ER
PT J
AU Theoharides, TC
Asadi, S
Patel, AB
AF Theoharides, Theoharis C.
Asadi, Shahrzad
Patel, Arti B.
TI Focal brain inflammation and autism
SO JOURNAL OF NEUROINFLAMMATION
LA English
DT Review
ID HUMAN MAST-CELLS; PERVASIVE DEVELOPMENTAL DISORDERS;
CORTICOTROPIN-RELEASING HORMONE; TUMOR-NECROSIS-FACTOR; SPECTRUM
DISORDERS; MITOCHONDRIAL DYSFUNCTION; ATYPICAL ANTIPSYCHOTICS;
NEUROTENSIN RECEPTOR-3; IMMUNE DYSREGULATION; REPETITIVE BEHAVIOR
AB Increasing evidence indicates that brain inflammation is involved in the pathogenesis of neuropsychiatric diseases. Autism spectrum disorders (ASD) are characterized by social and learning disabilities that affect as many as 1/80 children in the USA. There is still no definitive pathogenesis or reliable biomarkers for ASD, thus significantly curtailing the development of effective therapies. Many children with ASD regress at about age 3 years, often after a specific event such as reaction to vaccination, infection, stress or trauma implying some epigenetic triggers, and may constitute a distinct phenotype. ASD children respond disproportionally to stress and are also affected by food and skin allergies. Corticotropin-releasing hormone (CRH) is secreted under stress and together with neurotensin (NT) stimulates mast cells and microglia resulting in focal brain inflammation and neurotoxicity. NT is significantly increased in serum of ASD children along with mitochondrial DNA (mtDNA). NT stimulates mast cell secretion of mtDNA that is misconstrued as an innate pathogen triggering an auto-inflammatory response. The phosphatase and tensin homolog (PTEN) gene mutation, associated with the higher risk of ASD, which leads to hyper-active mammalian target of rapamycin (mTOR) signalling that is crucial for cellular homeostasis. CRH, NT and environmental triggers could hyperstimulate the already activated mTOR, as well as stimulate mast cell and microglia activation and proliferation. The natural flavonoid luteolin inhibits mTOR, mast cells and microglia and could have a significant benefit in ASD.
C1 [Theoharides, Theoharis C.; Asadi, Shahrzad; Patel, Arti B.] Tufts Univ, Sch Med, Dept Mol Physiol & Pharmacol, Mol Immunopharmacol & Drug Discovery Lab, Boston, MA 02111 USA.
[Asadi, Shahrzad] Tufts Med Ctr, Dept Pharm, Boston, MA 02111 USA.
[Theoharides, Theoharis C.] Tufts Univ, Sch Med, Dept Biochem, Boston, MA 02111 USA.
[Theoharides, Theoharis C.] Tufts Univ, Sch Med, Dept Internal Med, Boston, MA 02111 USA.
[Theoharides, Theoharis C.] Tufts Med Ctr, Boston, MA 02111 USA.
[Theoharides, Theoharis C.] Tufts Univ, Sch Med, Dept Psychiat, Boston, MA 02111 USA.
[Patel, Arti B.] Tufts Univ, Sackler Sch Grad Biomed Sci, Grad Program Biochem, Boston, MA 02111 USA.
RP Theoharides, TC (reprint author), Tufts Univ, Sch Med, Dept Mol Physiol & Pharmacol, Mol Immunopharmacol & Drug Discovery Lab, Suite J304,136 Harrison Ave, Boston, MA 02111 USA.
EM theoharis.theoharides@tufts.edu
FU Autism Research Institute; National Autism Association, Safe Minds;
Theta Biomedical Consulting and Development Co. Inc. (Brookline, MA)
FX Aspects of the work discussed were funded in part by the Autism Research
Institute, the National Autism Association, Safe Minds, and Theta
Biomedical Consulting and Development Co. Inc. (Brookline, MA).
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PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1742-2094
J9 J NEUROINFLAMM
JI J. Neuroinflamm.
PD APR 9
PY 2013
VL 10
AR 46
DI 10.1186/1742-2094-10-46
PG 7
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA 127ES
UT WOS:000317680200001
PM 23570274
ER
PT J
AU Fox, SE
Wagner, JB
Shrock, CL
Tager-Flusberg, H
Nelson, CA
AF Fox, Sharon E.
Wagner, Jennifer B.
Shrock, Christine L.
Tager-Flusberg, Helen
Nelson, Charles A.
TI Neural processing of facial identity and emotion in infants at high-risk
for autism spectrum disorders
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE autism; fNIRS; face processing; near-infrared spectroscopy; cognitive
development
ID INDEPENDENT COMPONENT ANALYSIS; NEAR-INFRARED SPECTROSCOPY; 6-MONTH-OLD
INFANTS; FACE PERCEPTION; HUMAN BRAIN; RECOGNITION; ACTIVATION; CORTEX;
GAZE; CIRCUITRY
AB Deficits in face processing and social impairment are core characteristics of autism spectrum disorder. The present work examined 7-month-old infants at high-risk for developing autism and typically developing controls at low-risk, using a face perception task designed to differentiate between the effects of face identity and facial emotions on neural response using functional Near-Infrared Spectroscopy. In addition, we employed independent component analysis, as well as a novel method of condition-related component selection and classification to identify group differences in hemodynamic waveforms and response distributions associated with face and emotion processing. The results indicate similarities of waveforms, but differences in the magnitude, spatial distribution, and timing of responses between groups. These early differences in local cortical regions and the hemodynamic response may, in turn, contribute to differences in patterns of functional connectivity.
C1 [Fox, Sharon E.] MIT, Cambridge, MA 02139 USA.
[Fox, Sharon E.; Wagner, Jennifer B.; Nelson, Charles A.] Childrens Hosp Boston, Boston, MA USA.
[Wagner, Jennifer B.] CUNY Coll Staten Isl, New York, NY USA.
[Shrock, Christine L.] Harvard Univ, Cambridge, MA 02138 USA.
[Tager-Flusberg, Helen] Boston Univ, Boston, MA 02215 USA.
RP Nelson, CA (reprint author), Harvard Univ, Labs Cognit Neurosci, Sch Med,Boston Childrens Hosp, Richard David Scott Chair Pediat Dev Med Res, 1Autumn St,Off AU621,Mailbox 713, Boston, MA 02115 USA.
EM charles.nelson@childrens.harvard.edu
FU Autism Speaks; Simons Foundation; NIDCD [R21 DC 08637, R01 DC 10290];
Helen Tager-Flusberg; NIMH; NARSAD; Hugh Hampton Young Memorial
Foundation; NIH
FX This work was made possible, in part, by grants from Autism Speaks, the
Simons Foundation, and the NIDCD (R21 DC 08637 and R01 DC 10290) to
Helen Tager-Flusberg and Charles A. Nelson, the NIMH-funded Stuart T.
Hauser Research Training Program in Biological and Social Psychiatry and
a NARSAD Abrams Young Investigator Award (to Jennifer B. Wagner) and the
Hugh Hampton Young Memorial Foundation, the NIH-funded Advanced
Multimodal Neuroimaging Training Program, and the NIH-funded
Neuroimaging Training Program (to Sharon E. Fox). Direct correspondence
to the last author at Charles.nelson@childrens.harvard.edu.
CR Akgul CB, 2006, MED BIOL ENG COMPUT, V44, P945, DOI 10.1007/s11517-006-0116-3
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NR 47
TC 4
Z9 4
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 APR 9
PY 2013
VL 7
AR 89
DI 10.3389/fnhum.2013.00089
PG 18
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA 122RM
UT WOS:000317335500001
PM 23576966
ER
PT J
AU Pardo, CA
Buckley, A
Thurm, A
Lee, LC
Azhagiri, A
Neville, DM
Swedo, SE
AF Pardo, Carlos A.
Buckley, Ashura
Thurm, Audrey
Lee, Li-Ching
Azhagiri, Arun
Neville, David M.
Swedo, Susan E.
TI A pilot open-label trial of minocycline in patients with autism and
regressive features
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Minocycline; Microglia; Neuroinflammation; Clinical trial;
Cytokines; Chemokines; Metalloproteinases; Neurotrophins; BDNF
ID AMYOTROPHIC-LATERAL-SCLEROSIS; PREFRONTAL CORTEX; MOUSE MODEL;
MICROGLIA; BRAIN; DISORDERS; DISEASE; NEUROPROTECTION; SPECTRUM;
COMMUNICATION
AB Background: Minocycline is a tetracycline derivative that readily crosses the blood brain barrier and appears to have beneficial effects on neuroinflammation, microglial activation and neuroprotection in a variety of neurological disorders. Both microglial activation and neuroinflammation have been reported to be associated with autism. The study was designed to evaluate the effects of minocycline treatment on markers of neuroinflammation and autism symptomatology in children with autism and a history of developmental regression.
Methods: Eleven children were enrolled in an open-label trial of six months of minocycline (1.4 mg/kg). Ten children completed the trial. Behavioral measures were collected and cerebrospinal fluid (CSF), serum and plasma were obtained before and at the end of minocycline treatment and were analyzed for markers of neuroinflammation.
Results: Clinical improvements were negligible. The laboratory assays demonstrated significant changes in the expression profile of the truncated form of brain derived neurotrophic factor (BDNF) (P = 0.042) and hepatic growth factor (HGF) (P = 0.028) in CSF. In serum, the ratio of the truncated BDNF form and alpha-2 macroglobulin (alpha-2 M), was also significantly lower (P = 0.028) while the mature BDNF/alpha-2 M ratio revealed no difference following treatment. Only the chemokine CXCL8 (IL-8) was significantly different (P = 0.047) in serum while no significant changes were observed in CSF or serum in chemokines such as CCL2 (MCP-1) or cytokines such as TNF-alpha, CD40L, IL-6, IFN-gamma and IL-1 beta when pre- and post-treatment levels of these proteins were compared. No significant pre-and post-treatment changes were seen in the profiles of plasma metalloproteinases, putative targets of the effects of minocycline.
Conclusions: Changes in the pre-and post-treatment profiles of BDNF in CSF and blood, HGF in CSF and CXCL8 (IL-8) in serum, suggest that minocycline may have effects in the CNS by modulating the production of neurotrophic growth factors. However, in this small group of children, no clinical improvements were observed during or after the six months of minocycline administration.
C1 [Pardo, Carlos A.; Azhagiri, Arun] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21287 USA.
[Buckley, Ashura; Thurm, Audrey; Neville, David M.; Swedo, Susan E.] NIMH, Pediat & Dev Neurosci Branch, Bethesda, MD 20892 USA.
[Lee, Li-Ching] Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD 21205 USA.
RP Pardo, CA (reprint author), Johns Hopkins Univ, Sch Med, Dept Neurol, 600 North Wolfe St, Baltimore, MD 21287 USA.
EM cpardov1@jhmi.edu
FU National Institute of Mental Health; NIH [HHSN271200700179]; Bart McLean
Fund for Neuroimmunology Research; Peter Emch Fund for Autism Research
FX The research was funded by the Intramural Research Program of the
National Institute of Mental Health. Dr. Pardo's laboratory received
support from NIH contract HHSN271200700179, The Bart McLean Fund for
Neuroimmunology Research and The Peter Emch Fund for Autism Research.
The content is solely the responsibility of the authors and does not
necessarily represent the official views of the National Institute of
Mental Health or the National Institutes of Health.
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NR 50
TC 4
Z9 4
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD APR 8
PY 2013
VL 5
AR 9
DI 10.1186/1866-1955-5-9
PG 9
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA 151ML
UT WOS:000319464500001
PM 23566357
ER
PT J
AU Marsh, L
Pearson, A
Ropar, D
Hamilton, A
AF Marsh, L.
Pearson, A.
Ropar, D.
Hamilton, A.
TI Children with autism do not overimitate
SO CURRENT BIOLOGY
LA English
DT Letter
ID IMITATION
C1 [Marsh, L.; Pearson, A.; Ropar, D.; Hamilton, A.] Univ Nottingham, Sch Psychol, Nottingham NG7 2RD, England.
RP Marsh, L (reprint author), Univ Nottingham, Sch Psychol, Univ Pk, Nottingham NG7 2RD, England.
EM antonia.hamilton@nottingham.ac.uk
RI Hamilton, Antonia/B-3612-2008
OI Hamilton, Antonia/0000-0001-8000-0219
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NR 10
TC 10
Z9 10
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0960-9822
J9 CURR BIOL
JI Curr. Biol.
PD APR 8
PY 2013
VL 23
IS 7
BP R266
EP R268
DI 10.1016/j.cub.2013.02.036
PG 3
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA 123EM
UT WOS:000317371200005
PM 23578869
ER
PT J
AU Lewis, KP
Charlebois, AF
Pirrone, G
AF Lewis, Katelyn P.
Charlebois, Amber Flynn
Pirrone, Greg
TI Synthesis of stercobilin: A potential biomarker for autism
SO ABSTRACTS OF PAPERS OF THE AMERICAN CHEMICAL SOCIETY
LA English
DT Meeting Abstract
CT 245th National Meeting of the American-Chemical-Society (ACS)
CY APR 07-11, 2013
CL New Orleans, LA
SP Amer Chem Soc
C1 [Lewis, Katelyn P.; Charlebois, Amber Flynn; Pirrone, Greg] Fairleigh Dickinson Univ, Coll Florham, Dept Chem & Pharmaceut Sci, Madison, NJ 07940 USA.
EM KLew@student.fdu.edu
NR 0
TC 0
Z9 0
PU AMER CHEMICAL SOC
PI WASHINGTON
PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA
SN 0065-7727
J9 ABSTR PAP AM CHEM S
JI Abstr. Pap. Am. Chem. Soc.
PD APR 7
PY 2013
VL 245
MA 922-CHED
PG 1
WC Chemistry, Multidisciplinary
SC Chemistry
GA 210RD
UT WOS:000323851302712
ER
PT J
AU Jakab, A
Emri, M
Spisak, T
Szeman-Nagy, A
Beres, M
Kis, SA
Molnar, P
Berenyi, E
AF Jakab, Andras
Emri, Miklos
Spisak, Tamas
Szeman-Nagy, Anita
Beres, Monika
Kis, Sandor Attila
Molnar, Peter
Berenyi, Ervin
TI Autistic Traits in Neurotypical Adults: Correlates of Graph Theoretical
Functional Network Topology and White Matter Anisotropy Patterns
SO PLOS ONE
LA English
DT Article
ID VOXEL-BASED MORPHOMETRY; POSTERIOR CINGULATE CORTEX; ASPERGER-SYNDROME;
SPECTRUM DISORDER; FUSIFORM GYRUS; BRAIN NETWORKS; BASAL GANGLIA;
CONNECTIVITY PATTERNS; CEREBRAL-CORTEX; FRONTAL-CORTEX
AB Attempts to explicate the neural abnormalities behind autism spectrum disorders frequently revealed impaired brain connectivity, yet our knowledge is limited about the alterations linked with autistic traits in the non-clinical population. In our study, we aimed at exploring the neural correlates of dimensional autistic traits using a dual approach of diffusion tensor imaging (DTI) and graph theoretical analysis of resting state functional MRI data. Subjects were sampled from a public neuroimaging dataset of healthy volunteers. Inclusion criteria were adult age (age: 18-65), availability of DTI and resting state functional acquisitions and psychological evaluation including the Social Responsiveness Scale (SRS) and Autistic Spectrum Screening Questionnaire (ASSQ). The final subject cohort consisted of 127 neurotypicals. Global brain network structure was described by graph theoretical parameters: global and average local efficiency. Regional topology was characterized by degree and efficiency. We provided measurements for diffusion anisotropy. The association between autistic traits and the neuroimaging findings was studied using a general linear model analysis, controlling for the effects of age, gender and IQ profile. Significant negative correlation was found between the degree and efficiency of the right posterior cingulate cortex and autistic traits, measured by the combination of ASSQ and SRS scores. Autistic phenotype was associated with the decrease of whole-brain local efficiency. Reduction of diffusion anisotropy was found bilaterally in the temporal fusiform and parahippocampal gyri. Numerous models describe the autistic brain connectome to be dominated by reduced long-range connections and excessive short-range fibers. Our finding of decreased efficiency supports this hypothesis although the only prominent effect was seen in the posterior limbic lobe, which is known to act as a connector hub. The neural correlates of the autistic trait in neurotypicals showed only limited similarities to the reported findings in clinical populations with low functioning autism.
C1 [Jakab, Andras; Beres, Monika; Berenyi, Ervin] Univ Debrecen Med & Hlth Sci Ctr, Dept Biomed Lab & Imaging Sci, Debrecen, Hungary.
[Emri, Miklos; Spisak, Tamas; Kis, Sandor Attila] Univ Debrecen Med & Hlth Sci Ctr, Inst Nucl Med, Debrecen, Hungary.
[Szeman-Nagy, Anita] Univ Debrecen, Dept Personal & Clin Psychol, Inst Psychol, H-4012 Debrecen, Hungary.
[Molnar, Peter] Univ Debrecen Med & Hlth Sci Ctr, Dept Behav Sci, Debrecen, Hungary.
RP Jakab, A (reprint author), Univ Debrecen Med & Hlth Sci Ctr, Dept Biomed Lab & Imaging Sci, Debrecen, Hungary.
EM jakaba@med.unideb.hu
FU ENIAC CSI project [120209]; New York State Office of Mental Health;
Research Foundation for Mental Hygiene; NKI Center for Advanced Brain
Imaging (CABI); Brain Research Foundation (Chicago, IL); Stavros
Niarchos Foundation; NIH [P50 MH086385-S1]
FX This work was partly supported by the ENIAC CSI project (No. 120209).
The authors would like to thank the efforts of F. Xavier Castellanos,
Bennett Leventhal, Michael Milham who played a fundamental role in
creating the Nathan Kline Institute Rockland Sample. Funding for the
above mentioned key personnel was provided in part by the New York State
Office of Mental Health and Research Foundation for Mental Hygiene.
Additional project support was provided by the NKI Center for Advanced
Brain Imaging (CABI), the Brain Research Foundation (Chicago, IL), the
Stavros Niarchos Foundation, and NIH grant P50 MH086385-S1. 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 113
TC 7
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 APR 5
PY 2013
VL 8
IS 4
AR e60982
DI 10.1371/journal.pone.0060982
PG 21
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 146RZ
UT WOS:000319109800115
PM 23593367
ER
PT J
AU Kushki, A
Drumm, E
Mobarak, MP
Tanel, N
Dupuis, A
Chau, T
Anagnostou, E
AF Kushki, Azadeh
Drumm, Ellen
Mobarak, Michele Pla
Tanel, Nadia
Dupuis, Annie
Chau, Tom
Anagnostou, Evdokia
TI Investigating the Autonomic Nervous System Response to Anxiety in
Children with Autism Spectrum Disorders
SO PLOS ONE
LA English
DT Article
ID AMYGDALA VOLUME; HEART-RATE; ASSOCIATION; ACTIVATION; SYMPTOMS;
BEHAVIOR; DEFICITS; AROUSAL; STRESS; STROOP
AB Assessment of anxiety symptoms in autism spectrum disorders (ASD) is a challenging task due to the symptom overlap between the two conditions as well as the difficulties in communication and awareness of emotions in ASD. This motivates the development of a physiological marker of anxiety in ASD that is independent of language and does not require observation of overt behaviour. In this study, we investigated the feasibility of using indicators of autonomic nervous system (ANS) activity for this purpose. Specially, the objectives of the study were to 1) examine whether or not anxiety causes significant measurable changes in indicators of ANS in an ASD population, and 2) characterize the pattern of these changes in ASD. We measured three physiological indicators of the autonomic nervous system response (heart rate, electrodermal activity, and skin temperature) during a baseline (movie watching) and anxiety condition (Stroop task) in a sample of typically developing children (n = 17) and children with ASD (n = 12). The anxiety condition caused significant changes in heart rate and electrodermal activity in both groups, however, a differential pattern of response was found between the two groups. In particular, the ASD group showed elevated heart rate during both baseline and anxiety conditions. Elevated and blunted phasic electrodermal activity were found in the ASD group during baseline and anxiety conditions, respectively. Finally, the ASD group did not show the typical decrease in skin temperature in response to anxiety. These results suggest that 1) signals of the autonomic nervous system may be used as indicators of anxiety in children with ASD, and 2) ASD may be associated with an atypical autonomic response to anxiety that is most consistent with sympathetic over-arousal and parasympathetic under-arousal.
C1 [Kushki, Azadeh; Drumm, Ellen; Mobarak, Michele Pla; Tanel, Nadia; Dupuis, Annie; Chau, Tom; Anagnostou, Evdokia] Holland Bloorview Kids Rehabil Hosp, Bloorview Res Inst, Toronto, ON, Canada.
[Dupuis, Annie] Hosp Sick Children, Toronto, ON M5G 1X8, Canada.
[Chau, Tom] Univ Toronto, Inst Biomat & Biomed Engn, Toronto, ON, Canada.
[Anagnostou, Evdokia] Univ Toronto, Dept Pediat, Toronto, ON M5S 1A1, Canada.
RP Kushki, A (reprint author), Holland Bloorview Kids Rehabil Hosp, Bloorview Res Inst, Toronto, ON, Canada.
EM akushki@hollandbloorview.ca
FU Bloorview Research Institute; Ontario Brain Institute; Seaside
Therapeutics
FX This study was funded in part by the Bloorview Research Institute and
the Ontario Brain Institute. The funders had no role in study design,
data collection and analysis, decision to publish, or preparation of the
manuscript.The authors AK, ED, MM, NT, AD and TC have declared that no
competing interests exist. EA has consulted without fees to Proximagen,
Neuropharm and NOVARTIS and has received a consultation fee from Seaside
Therapeutics. This does not alter the authors' adherence to all the PLOS
ONE policies on sharing data and materials.
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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 APR 5
PY 2013
VL 8
IS 4
AR e59730
DI 10.1371/journal.pone.0059730
PG 8
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 146RZ
UT WOS:000319109800016
PM 23577072
ER
PT J
AU Kneeland, RE
Fatemi, SH
AF Kneeland, Rachel E.
Fatemi, S. Hossein
TI Viral infection, inflammation and schizophrenia
SO PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
LA English
DT Review
DE Autism; Inflammation; Influenza; Schizophrenia; Viral infection
ID PRENATAL IMMUNE ACTIVATION; NECROSIS-FACTOR-ALPHA;
SYNAPTOSOMAL-ASSOCIATED PROTEIN; ANTIOXIDANT ENZYME LEVELS; INFLUENZA
A/WSN/33 VIRUS; PLACEBO-CONTROLLED TRIAL; BIPOLAR DISORDER; OXIDATIVE
STRESS; SOUTHERN-HEMISPHERE; NEONATAL MICE
AB Schizophrenia is a severe neurodevelopmental disorder with genetic and environmental etiologies. Prenatal viral/bacterial infections and inflammation play major roles in the genesis of schizophrenia. In this review, we describe a viral model of schizophrenia tested in mice whereby the offspring of mice prenatally infected with influenza at E7, E9, E16, and El8 show significant gene, protein, and brain structural abnormalities postnatally. Similarly, we describe data on rodents exposed to bacterial infection or injected with a synthetic viral mimic (Polyl:C) also demonstrating brain structural and behavioral abnormalities. Moreover, human serologic data has been indispensible in supporting the viral theory of schizophrenia. Individuals born seropositive for bacterial and viral agents are at a significantly elevated risk of developing schizophrenia. While the specific mechanisms of prenatal viral/bacterial infections and brain disorder are unclear, recent findings suggest that the maternal inflammatory response may be associated with fetal brain injury. Preventive and therapeutic treatment options are also proposed. This review presents data related to epidemiology, human serology, and experimental animal models which support the viral model of schizophrenia (C) 2012 Elsevier Inc. All rights reserved.
C1 [Kneeland, Rachel E.; Fatemi, S. Hossein] Univ Minnesota, Sch Med, Dept Psychiat, Div Neurosci Res, Minneapolis, MN 55455 USA.
[Fatemi, S. Hossein] Univ Minnesota, Sch Med, Dept Pharmacol, Minneapolis, MN 55455 USA.
[Fatemi, S. Hossein] Univ Minnesota, Sch Med, Dept Neurosci, Minneapolis, MN 55455 USA.
RP Fatemi, SH (reprint author), 420 Delaware St SE,MMC 392, Minneapolis, MN 55455 USA.
EM knee0030@umn.edu; fatem002@umn.edu
FU Eunice Kennedy Shriver National Institute of Child Health and Human
Development [5R01HD046589-04, 3R01HD046589-04S1]; Young & the Phyllis
and Perry Schwartz Established Investigator Awards from NARSAD
FX We would like to thank Tim Folsom for the critical review of this
manuscript. The work of S.H. Fatemi was supported by the Eunice Kennedy
Shriver National Institute of Child Health and Human Development grants
5R01HD046589-04, 3R01HD046589-04S1, and Young & the Phyllis and Perry
Schwartz Established Investigator Awards from NARSAD.
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NR 231
TC 20
Z9 21
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0278-5846
J9 PROG NEURO-PSYCHOPH
JI Prog. Neuro-Psychopharmacol. Biol. Psychiatry
PD APR 5
PY 2013
VL 42
SI SI
BP 35
EP 48
DI 10.1016/j.pnpbp2012.02.001
PG 14
WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA 111JP
UT WOS:000316517900004
PM 22349576
ER
PT J
AU Allen, R
Walsh, R
Zangwill, N
AF Allen, Rory
Walsh, Reubs
Zangwill, Nick
TI The same, only different: what can responses to music in autism tell us
about the nature of musical emotions?
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Editorial Material
ID ALEXITHYMIA; EXPERIENCE; LANGUAGE; ADULTS
C1 [Allen, Rory] Univ London, Dept Psychol, London, England.
[Walsh, Reubs] Univ Oxford, Dept Physiol Anat & Genet, Oxford, England.
[Zangwill, Nick] Univ Durham, Dept Philosophy, Durham, England.
RP Allen, R (reprint author), Univ London, Dept Psychol, London, England.
EM r.allen@gold.ac.uk
RI Allen, Rory/E-8660-2011
OI Allen, Rory/0000-0003-3434-9772
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NR 38
TC 4
Z9 4
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD APR 4
PY 2013
VL 4
AR 156
DI 10.3389/fpsyg.2013.00156
PG 4
WC Psychology, Multidisciplinary
SC Psychology
GA AA1FM
UT WOS:000330841900001
PM 23576996
ER
PT J
AU Yadav, R
Hillman, BG
Gupta, SC
Suryavanshi, P
Bhatt, JM
Pavuluri, R
Stairs, DJ
Dravid, SM
AF Yadav, Roopali
Hillman, Brandon G.
Gupta, Subhash C.
Suryavanshi, Pratyush
Bhatt, Jay M.
Pavuluri, Ratnamala
Stairs, Dustin J.
Dravid, Shashank M.
TI Deletion of Glutamate Delta-1 Receptor in Mouse Leads to Enhanced
Working Memory and Deficit in Fear Conditioning
SO PLOS ONE
LA English
DT Article
ID AUTISM SPECTRUM DISORDER; FRAGILE-X-SYNDROME; INHIBITORY PRESYNAPTIC
DIFFERENTIATION; MEDIAL TEMPORAL-LOBE; LONG-TERM DEPRESSION; MORRIS
WATER MAZE; SYNAPTIC PLASTICITY; KAINATE RECEPTORS; CANDIDATE GENES;
NMDA RECEPTORS
AB Glutamate delta-1 (GluD1) receptors are expressed throughout the forebrain during development with high levels in the hippocampus during adulthood. We have recently shown that deletion of GluD1 receptor results in aberrant emotional and social behaviors such as hyperaggression and depression-like behaviors and social interaction deficits. Additionally, abnormal expression of synaptic proteins was observed in amygdala and prefrontal cortex of GluD1 knockout mice ( GluD1 KO). However the role of GluD1 in learning and memory paradigms remains unknown. In the present study we evaluated GluD1 KO in learning and memory tests. In the eight-arm radial maze GluD1 KO mice committed fewer working memory errors compared to wildtype mice but had normal reference memory. Enhanced working memory in GluD1 KO was also evident by greater percent alternation in the spontaneous Y-maze test. No difference was observed in object recognition memory in the GluD1 KO mice. In the Morris water maze test GluD1 KO mice showed no difference in acquisition but had longer latency to find the platform in the reversal learning task. GluD1 KO mice showed a deficit in contextual and cue fear conditioning but had normal latent inhibition. The deficit in contextual fear conditioning was reversed by D-Cycloserine (DCS) treatment. GluD1 KO mice were also found to be more sensitive to foot-shock compared to wildtype. We further studied molecular changes in the hippocampus, where we found lower levels of GluA1, GluA2 and GluK2 subunits while a contrasting higher level of GluN2B in GluD1 KO. Additionally, we found higher postsynaptic density protein 95 (PSD95) and lower glutamate decarboxylase 67 (GAD67) expression in GluD1 KO. We propose that GluD1 is crucial for normal functioning of synapses and absence of GluD1 leads to specific abnormalities in learning and memory. These findings provide novel insights into the role of GluD1 receptors in the central nervous system.
C1 [Yadav, Roopali; Hillman, Brandon G.; Gupta, Subhash C.; Suryavanshi, Pratyush; Bhatt, Jay M.; Pavuluri, Ratnamala; Dravid, Shashank M.] Creighton Univ, Dept Pharmacol, Omaha, NE 68178 USA.
[Stairs, Dustin J.] Creighton Univ, Dept Psychol, Omaha, NE 68178 USA.
RP Dravid, SM (reprint author), Creighton Univ, Dept Pharmacol, Omaha, NE 68178 USA.
EM ShashankDravid@creighton.edu
FU Health Future Foundation; National Alliance for Research on
Schizophrenia and Depression; National Center for Research Resources
[G20RR024001]
FX This work was supported by the Health Future Foundation (SMD) and the
National Alliance for Research on Schizophrenia and Depression (SMD).
The project was also supported by G20RR024001 from National Center for
Research Resources. 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 99
TC 7
Z9 7
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 APR 3
PY 2013
VL 8
IS 4
AR e60785
DI 10.1371/journal.pone.0060785
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 143BA
UT WOS:000318840100103
PM 23560106
ER
PT J
AU Roehr, B
AF Roehr, Bob
TI Study finds no association between autism and vaccination
SO BMJ-BRITISH MEDICAL JOURNAL
LA English
DT News Item
CR DeStefano F, 2013, J PEDIATR-US, V163, P561, DOI 10.1016/j.jpeds.2013.02.001
NR 1
TC 0
Z9 0
PU BMJ PUBLISHING GROUP
PI LONDON
PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
SN 1756-1833
J9 BMJ-BRIT MED J
JI BMJ-British Medical Journal
PD APR 3
PY 2013
VL 346
AR f2095
DI 10.1136/bmj.f2095
PG 1
WC Medicine, General & Internal
SC General & Internal Medicine
GA 122SG
UT WOS:000317337800002
PM 23554072
ER
PT J
AU Koster-Hale, J
Saxe, R
Dungan, J
Young, LL
AF Koster-Hale, Jorie
Saxe, Rebecca
Dungan, James
Young, Liane L.
TI Decoding moral judgments from neural representations of intentions
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
DE functional MRI; morality; theory of mind
ID TEMPORO-PARIETAL JUNCTION; AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING
AUTISM; VOXEL PATTERN-ANALYSIS; SOCIAL COGNITION; LANGUAGE
COMPREHENSION; ASPERGER-SYNDROME; FMRI DATA; MIND; BRAIN
AB Intentional harms are typically judged to be morally worse than accidental harms. Distinguishing between intentional harms and accidents depends on the capacity for mental state reasoning (i.e., reasoning about beliefs and intentions), which is supported by a group of brain regions including the right temporo-parietal junction (RTPJ). Prior research has found that interfering with activity in RTPJ can impair mental state reasoning for moral judgment and that high-functioning individuals with autism spectrum disorders make moral judgments based less on intent information than neurotypical participants. Three experiments, using multivoxel pattern analysis, find that (i) in neurotypical adults, the RTPJ shows reliable and distinct spatial patterns of responses across voxels for intentional vs. accidental harms, and (ii) individual differences in this neural pattern predict differences in participants' moral judgments. These effects are specific to RTPJ. By contrast, (iii) this distinction was absent in adults with autism spectrum disorders. We conclude that multivoxel pattern analysis can detect features of mental state representations (e. g., intent), and that the corresponding neural patterns are behaviorally and clinically relevant.
C1 [Koster-Hale, Jorie; Saxe, Rebecca] MIT, McGovern Inst Brain Res, Cambridge, MA 02139 USA.
[Koster-Hale, Jorie; Saxe, Rebecca] MIT, Dept Brain & Cognit Sci, Cambridge, MA 02139 USA.
[Dungan, James; Young, Liane L.] Boston Coll, Dept Psychol, Chestnut Hill, MA 02467 USA.
RP Koster-Hale, J (reprint author), MIT, McGovern Inst Brain Res, 77 Massachusetts Ave, Cambridge, MA 02139 USA.
EM jorie@mit.edu
FU National Institutes of Health [1R01 MH096914-01A1]; Simons Foundation;
National Science Foundation [095518]; John Merck Scholars grant; Dana
Foundation; National Science Foundation Graduate Research Fellowship
[0645960]
FX We thank our participants; Lee Marvos and Caitlin Malloy for recruiting
help; and Nancy Kanwisher, Ev Fedorenko, Hilary Richardson, Nick Dufour,
members of the Massachusetts Institute of Technology (MIT) Saxelab, the
Boston College Morality Laboratory, and the Brown Moral Psychology
Research Laboratory for useful comments and discussion. Data were
collected at the Athinoula A. Martinos Imaging Center at the McGovern
Institute for Brain Research, MIT. This material is based on work
supported by National Institutes of Health Grant 1R01 MH096914-01A1, the
Simons Foundation, National Science Foundation Grant 095518, a John
Merck Scholars grant, the Dana Foundation, and National Science
Foundation Graduate Research Fellowship Grant 0645960.
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NR 62
TC 12
Z9 13
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 APR 2
PY 2013
VL 110
IS 14
BP 5648
EP 5653
DI 10.1073/pnas.1207992110
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 131ZP
UT WOS:000318037800085
PM 23479657
ER
PT J
AU Dolan, BM
Duron, SG
Campbell, DA
Vollrath, B
Rao, BSS
Ko, HY
Lin, GG
Govindarajan, A
Choi, SY
Tonegawa, S
AF Dolan, Bridget M.
Duron, Sergio G.
Campbell, David A.
Vollrath, Benedikt
Rao, B. S. Shankaranarayana
Ko, Hui-Yeon
Lin, Gregory G.
Govindarajan, Arvind
Choi, Se-Young
Tonegawa, Susumu
TI Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by the
small-molecule PAK inhibitor FRAX486
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
DE drug discovery; neurodevelopmental disorder
ID AUTISM SPECTRUM DISORDERS; DENDRITIC SPINE; KNOCKOUT MICE; P21-ACTIVATED
KINASE; MENTAL-RETARDATION; MOUSE MODEL; PROTEIN; HIPPOCAMPAL; EPILEPSY;
CHILDREN
AB Fragile X syndrome (FXS) is the most common inherited form of autism and intellectual disability and is caused by the silencing of a single gene, fragile X mental retardation 1 (Fmr1). The Fmr1 KO mouse displays phenotypes similar to symptoms in the human condition-including hyperactivity, repetitive behaviors, and seizures-as well as analogous abnormalities in the density of dendritic spines. Here we take a hypothesis-driven, mechanism-based approach to the search for an effective therapy for FXS. We hypothesize that a treatment that rescues the dendritic spine defect in Fmr1 KO mice may also ameliorate autism-like behavioral symptoms. Thus, we targeted a protein that regulates spines through modulation of actin cytoskeleton dynamics: p21-activated kinase (PAK). Our results demonstrate that a potent small molecule inhibitor of group I PAKs reverses dendritic spine phenotypes in Fmr1 KO mice. Moreover, this PAK inhibitor-which we call FRAX486-also rescues seizures and behavioral abnormalities such as hyperactivity and repetitive movements, thereby supporting the hypothesis that a drug treatment that reverses the spine abnormalities can also treat neurological and behavioral symptoms. Finally, a single administration of FRAX486 is sufficient to rescue all of these phenotypes in adult Fmr1 KO mice, demonstrating the potential for rapid, post-diagnostic therapy in adults with FXS.
C1 [Dolan, Bridget M.; Lin, Gregory G.; Govindarajan, Arvind; Tonegawa, Susumu] MIT, Dept Biol, Picower Inst Learning & Memory, RIKEN MIT Ctr Neural Circuit Genet, Cambridge, MA 02139 USA.
[Dolan, Bridget M.; Lin, Gregory G.; Govindarajan, Arvind; Tonegawa, Susumu] MIT, Dept Brain & Cognit Sci, Cambridge, MA 02139 USA.
[Duron, Sergio G.; Campbell, David A.; Vollrath, Benedikt] Afraxis Inc, La Jolla, CA 92037 USA.
[Rao, B. S. Shankaranarayana] Natl Inst Mental Hlth & Neurosci, Dept Neurophysiol, Bangalore 560029, Karnataka, India.
[Ko, Hui-Yeon; Choi, Se-Young] Seoul Natl Univ, Sch Dent, Dept Physiol, Seoul 110749, South Korea.
RP Dolan, BM (reprint author), MIT, Dept Biol, Picower Inst Learning & Memory, RIKEN MIT Ctr Neural Circuit Genet, 77 Massachusetts Ave, Cambridge, MA 02139 USA.
EM bdolan@alum.mit.edu; tonegawa@mit.edu
FU National Institutes of Health [R01-MH078821, P50-MH58880]; RIKEN Brain
Science Institute; Simons Center for the Social Brain at the
Massachusetts Institute of Technology
FX We thank Alexander J. Rivest, Junghyup Suh, and Jennie Young for their
insightful comments. This work was supported by National Institutes of
Health Grants R01-MH078821 and P50-MH58880 (to S. T.), the RIKEN Brain
Science Institute, and the Simons Center for the Social Brain at the
Massachusetts Institute of Technology.
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NR 50
TC 31
Z9 31
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 APR 2
PY 2013
VL 110
IS 14
BP 5671
EP 5676
DI 10.1073/pnas.1219383110
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 131ZP
UT WOS:000318037800089
PM 23509247
ER
PT J
AU Schutzius, G
Bleckmann, D
Kapps-Fouthier, S
di Giorgio, F
Gerhartz, B
Weiss, A
AF Schutzius, Gabi
Bleckmann, Dorothee
Kapps-Fouthier, Sandra
di Giorgio, Francesco
Gerhartz, Bernd
Weiss, Andreas
TI A quantitative homogeneous assay for fragile X mental retardation 1
protein
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Fragile X syndrome; FMRP; Time-resolved Forster's resonance energy
transfer; Immunoassay
ID FMR1
AB Background: Hypermethylation of the fragile X mental retardation 1 gene FMR1 results in decreased expression of FMR1 protein FMRP, which is the underlying cause of Fragile X syndrome - an incurable neurological disorder characterized by mental retardation, anxiety, epileptic episodes and autism. Disease-modifying therapies for Fragile X syndrome are thus aimed at treatments that increase the FMRP expression levels in the brain. We describe the development and characterization of two assays for simple and quantitative detection of FMRP protein.
Method: Antibodies coupled to fluorophores that can be employed for time-resolved Forster's resonance energy transfer were used for the development of homogeneous, one-step immunodetection. Purified recombinant human FMRP and patient cells were used as control samples for assay development.
Results: The assays require small sample amounts, display high stability and reproducibility and can be used to quantify endogenous FMRP in human fibroblasts and peripheral blood mononuclear cells. Application of the assays to FXS patient cells showed that the methods can be used both for the characterization of clinical FXS patient samples as well as primary readouts in drug-discovery screens aimed at increasing endogenous FMRP levels in human cells.
Conclusion: This study provides novel quantitative detection methods for FMRP in FXS patient cells. Importantly, due to the simplicity of the assay protocol, the method is suited to be used in screening applications to identify compounds or genetic interventions that result in increased FMRP levels in human cells.
C1 [Schutzius, Gabi; Bleckmann, Dorothee; di Giorgio, Francesco; Weiss, Andreas] Novartis Pharma AG, Novartis Inst Biomed Res, Neurosci Discovery, CH-4002 Basel, Switzerland.
[Schutzius, Gabi; Bleckmann, Dorothee; di Giorgio, Francesco] Novartis Pharma AG, Novartis Inst Biomed Res, Dev & Mol Pathways, CH-4002 Basel, Switzerland.
[Kapps-Fouthier, Sandra; Gerhartz, Bernd] Novartis Pharma AG, Novartis Inst Biomed Res, Ctr Prote Chem, CH-4002 Basel, Switzerland.
RP Weiss, A (reprint author), Novartis Pharma AG, Novartis Inst Biomed Res, Neurosci Discovery, CH-4002 Basel, Switzerland.
EM Andreasweiss@Email.com
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TC 2
Z9 2
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
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DI 10.1186/1866-1955-5-8
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DT Book Review
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NR 1
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PU CANADIAN ASSOC OCCUPATIONAL THERAPISTS
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PA CTTC BLDG, 3400-1125 COLONEL BY DRIVE, OTTAWA, ONTARIO K1S 5R1, CANADA
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WC Psychology, Multidisciplinary
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PT J
AU Hobson, RP
AF Hobson, R. Peter
TI Reply from R. P. Hobson: Autism and Borderline Personality Disorder
SO EMOTION REVIEW
LA English
DT Letter
C1 Tavistock Clin, Adult Dept, London NW3 5BA, England.
RP Hobson, RP (reprint author), Tavistock Clin, Adult Dept, 120 Belsize Lane, London NW3 5BA, England.
EM r.hobson@ucl.ac.uk
NR 0
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1754-0739
EI 1754-0747
J9 EMOT REV
JI Emot. Rev.
PD APR
PY 2013
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IS 2
BP 224
EP 224
PG 1
WC Psychology, Multidisciplinary
SC Psychology
GA 298DF
UT WOS:000330303500020
ER
PT J
AU Gouin, JP
Paquin, C
Thaw, A
Barker, ET
AF Gouin, Jean-Philippe
Paquin, Chantal
Thaw, Amanda
Barker, Erin T.
TI DAILY STRESSORS AND CRP PRODUCTION AMONG PARENTS OF CHILDREN WITH AN
AUTISM SPECTRUM DISORDER
SO PSYCHOSOMATIC MEDICINE
LA English
DT Meeting Abstract
CT 71st Annual Scientific Meeting of the American-Psychosomatic-Society
CY MAR 13-16, 2013
CL Miami, FL
SP Amer Psychosomat Soc
C1 [Gouin, Jean-Philippe; Paquin, Chantal; Thaw, Amanda; Barker, Erin T.] Concordia Univ, Montreal, PQ, Canada.
NR 0
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0033-3174
EI 1534-7796
J9 PSYCHOSOM MED
JI Psychosom. Med.
PD APR
PY 2013
VL 75
IS 3
BP A52
EP A53
PG 2
WC Psychiatry; Psychology; Psychology, Multidisciplinary
SC Psychiatry; Psychology
GA 300MG
UT WOS:000330467400170
ER
PT J
AU Dempsey, I
Davies, M
AF Dempsey, Ian
Davies, Michael
TI National test performance of young Australian children with additional
educational needs
SO AUSTRALIAN JOURNAL OF EDUCATION
LA English
DT Article
DE Special education; special needs students; learning disabilities;
achievement tests; national competency tests; national norms
ID STUDENTS; DISABILITIES; PROPORTION; SCHOOLS
AB While the national testing of Australian school students is now well-entrenched, the educational outcomes of students with additional needs in this country are unknown. Students with a disability may be exempted from national testing and, in the absence of consistent standards for test accommodations and alternative tests, Australian educational authorities continue to be unaccountable for these students. Using secondary data from the Longitudinal Study of Australian Children, it is estimated that 12.3% of study children had additional educational needs (predominantly learning disabilities, emotional and behavioural disabilities and autism) that required specialist services. More than a third of students with additional needs did not participate in national testing. Those students with additional needs who did participate performed at a significantly lower level in comparison to students without additional needs. Further, students with additional needs in public schools were much more likely to have poorer academic outcomes than their counterparts in the Catholic and Independent education sectors.
C1 [Dempsey, Ian] Univ Newcastle, Sch Educ, Special Educ Ctr, Callaghan, NSW 2308, Australia.
[Davies, Michael] Griffith Univ, Sch Educ & Profess Studies, Nathan, Qld 4111, Australia.
RP Dempsey, I (reprint author), Univ Newcastle, Sch Educ, Special Educ Ctr, SE30, Callaghan, NSW 2308, Australia.
EM Ian.Dempsey@newcastle.edu.au
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NR 35
TC 0
Z9 0
PU AUSTRALIAN COUNCIL EDUCATIONAL RES LIMITED
PI CAMBERWELL
PA 19 PROSPECT HILL RD, PRIVATE BAG 55, CAMBERWELL, VICTORIA 3124,
AUSTRALIA
SN 0004-9441
EI 2050-5884
J9 AUST J EDUC
JI Aust. J. Educ.
PD APR
PY 2013
VL 57
IS 1
BP 5
EP 18
DI 10.1177/0004944112468700
PG 14
WC Education & Educational Research
SC Education & Educational Research
GA 286XQ
UT WOS:000329503000002
ER
PT J
AU Dean, M
Adams, GF
Kasari, C
AF Dean, Michelle
Adams, Gail Fox
Kasari, Connie
TI How narrative difficulties build peer rejection: A discourse analysis of
a girl with autism and her female peers
SO DISCOURSE STUDIES
LA English
DT Article
DE Autism; conversation/discourse analysis; exclusion; girls; language
socialization; narratives; peers
ID PERVASIVE DEVELOPMENTAL DISORDERS; HIGH-FUNCTIONING CHILDREN; SPECTRUM
DISORDERS; SEX-DIFFERENCES; SCHOOL; GENDER; GOALS; SELF; CONVERSATION;
ORGANIZATION
AB In this discourse analysis of a social-skills intervention, the narratives of a girl ('Cindy') with autism and her female peers were analyzed. Some 162 narratives were identified in 12 hours of video, which documented an eight-week program. Using conversation/talk-in-interaction analysis methods, we determined that over 60% of peers' narratives were cooperatively completed by group members compared to less than 20% of Cindy's. In contrast, a majority of Cindy's narratives were cooperatively sanctioned. Analysis of these unsuccessful narratives revealed that: 1) peers often contest Cindy's narratives if they are about a restricted interest; 2) Cindy often notices her peers' resistance but persists with her storytelling activity; and 3) peers' sanctioning becomes more intense over time. We claim that Cindy's autism-related behaviors manifest themselves in inflexible interactions that systematically lead to her exclusion. This study emphasizes that storytelling is a fundamental tool that girls use to socialize with one another, which has implications for autism intervention practices.
C1 [Dean, Michelle] Univ Calif Los Angeles, Div Psychol Studies Educ, Los Angeles, CA 90095 USA.
[Adams, Gail Fox] Univ Calif Los Angeles, Los Angeles, CA 90095 USA.
[Kasari, Connie] Univ Calif Los Angeles, Dept Psychol Studies Educ, Los Angeles, CA 90095 USA.
RP Kasari, C (reprint author), Univ Calif Los Angeles, Semel Inst, NPI 68-229, Los Angeles, CA 90095 USA.
EM kasari@gseis.ucla.edu
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NR 52
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1461-4456
EI 1461-7080
J9 DISCOURSE STUD
JI Discourse Stud.
PD APR
PY 2013
VL 15
IS 2
BP 147
EP 166
DI 10.1177/1461445612471472
PG 20
WC Communication
SC Communication
GA 281AD
UT WOS:000329071000002
ER
PT J
AU Lohr, WD
Tanguay, P
AF Lohr, W. David
Tanguay, Peter
TI DSM-5 and Proposed Changes to the Diagnosis of Autism
SO PEDIATRIC ANNALS
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDER; ASPERGER-SYNDROME;
CRITERIA; IV; VALIDITY; BEHAVIOR; CHILDREN; DOMAIN
C1 [Lohr, W. David] Univ Louisville, Sch Med, Div Child & Adolescent Psychiat & Psychol, Louisville, KY 40202 USA.
[Lohr, W. David; Tanguay, Peter] Univ Louisville, Sch Med, Dept Psychiat & Behav Sci, Louisville, KY 40202 USA.
[Lohr, W. David] Univ Louisville, Autism Ctr, Sch Med, Louisville, KY 40202 USA.
RP Lohr, WD (reprint author), Univ Louisville, Autism Ctr, 200 E Chestnut St, Louisville, KY 40202 USA.
EM wdlohr01@louisville.edu
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NR 33
TC 1
Z9 1
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 APR
PY 2013
VL 42
IS 4
BP 161
EP 166
DI 10.3928/00904481-20130326-12
PG 6
WC Pediatrics
SC Pediatrics
GA 273RB
UT WOS:000328552900017
PM 23556529
ER
PT J
AU Kloosterman, PH
Summerfeldt, LJ
Parker, JDA
Holden, JJA
AF Kloosterman, Patricia H.
Summerfeldt, Laura J.
Parker, James D. A.
Holden, Jeanette J. A.
TI The obsessive-compulsive trait of Incompleteness in parents of children
with autism spectrum disorders
SO JOURNAL OF OBSESSIVE-COMPULSIVE AND RELATED DISORDERS
LA English
DT Article
DE Incompleteness; Autism spectrum disorders; Obsessive-compulsive;
Repetitive behaviors
ID REPETITIVE BEHAVIORS; DIAGNOSTIC INTERVIEW; HARM AVOIDANCE; SYMPTOMS;
SCALE; INDIVIDUALS; ASSOCIATION; RELIABILITY; INVENTORY; FAMILIES
AB The obsessive-compulsive behaviors central to Obsessive-Compulsive Disorder (OCD) are not uncommon in Autism Spectrum Disorders (ASD), however the association between these disorders is not yet clear. One construct which may be useful in delineating their overlapping characteristics is "Incompleteness" or a sense of things feeling "not just right". Incompleteness has been related to a constellation of symptoms in OCD, but its association with ASD has not yet been examined. In this study parents with two or more children with ASD (P-MC) (n=115) were compared to an independent sample of parents having a single child with an ASD (P-SC), matched by age and gender, on level of Incompleteness. Results indicate that P-MC parents scored significantly higher in Incompleteness than P-SC parents. Incompleteness scores were also associated with a profile of behaviors in their children with ASD (n=357) characterized by high scores on the empirically derived repetitive sensory motor actions and resistance to change domains of the Autism Diagnostic Interview-Revised (Cuccaro et al., 2003). We discuss the implications of Incompleteness found in parents of children with an ASD, as well as its utility as a possible endophenotype for both ASD and OCD. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Kloosterman, Patricia H.; Summerfeldt, Laura J.; Parker, James D. A.] Trent Univ, Dept Psychol, Peterborough, ON K0L 1Y0, Canada.
[Holden, Jeanette J. A.] Queens Univ, Dept Psychiat, Kingston, ON K7L 3N6, Canada.
[Holden, Jeanette J. A.] Queens Univ, Dept Physiol, Kingston, ON K7L 3N6, Canada.
[Holden, Jeanette J. A.] Ongwanada, Autism Res Program, Kingston, ON K7M 8A6, Canada.
RP Kloosterman, PH (reprint author), Trent Univ, Dept Psychol, Peterborough, ON K9J 7B8, Canada.
EM patriciakloosterman@trentu.ca
FU CIHR Interdisciplinary Health Research Team grant [RT-43820]
FX We extend our sincere appreciation to the families who participated in
this study. This work was supported by a CIHR Interdisciplinary Health
Research Team grant (RT-43820) to the Autism Spectrum Disorders
Canadian-American Research Consortium (ASD-CARC: www.AutismResearch.ca)
(JJAH, principal investigator). The authors also wish to thank Melissa
Hudson for data management, Henderika Penning for collecting some of the
data, and Kateryna Keefer for assisting with the statistical analyses.
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NR 49
TC 4
Z9 4
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 2211-3649
J9 J OBSESS-COMPULS REL
JI J. Obsessive-Compuls. Relat. Disord.
PD APR
PY 2013
VL 2
IS 2
BP 176
EP 182
DI 10.1016/j.jocrd.2012.11.004
PG 7
WC Psychiatry
SC Psychiatry
GA 257VB
UT WOS:000327414800015
ER
PT J
AU Bolling, DZ
Pelphrey, KA
Kaiser, MD
AF Bolling, Danielle Z.
Pelphrey, Kevin A.
Kaiser, Martha D.
TI Social Inclusion Enhances Biological Motion Processing: A Functional
Near-Infrared Spectroscopy Study
SO BRAIN TOPOGRAPHY
LA English
DT Article
DE Social exclusion; Magnetic resonance imaging; Optical topography;
Cognition; Biological motion
ID BLOOD-PRESSURE; HUMAN BRAIN; PERCEPTION; OXYTOCIN; EXCLUSION; AUTISM;
FMRI; BEHAVIOR; HUMANS; ACTIVATION
AB Humans are especially tuned to the movements of other people. Neural correlates of this social attunement have been proposed to lie in and around the right posterior superior temporal sulcus (STS) region, which robustly responds to biological motion in contrast to a variety of non-biological motions. This response persists even when no form information is provided, as in point-light displays (PLDs). The aim of the current study was to assess the ability of functional near-infrared spectroscopy (fNIRS) to reliably measure brain responses to PLDs of biological motion, and determine the sensitivity of these responses to interpersonal contextual factors. To establish reliability, we measured brain activation to biological motion with fNIRS and functional magnetic resonance imaging (fMRI) during two separate sessions in an identical group of 12 participants. To establish sensitivity, brain responses to biological motion measured with fNIRS were subjected to an additional social manipulation where participants were either socially included or excluded before viewing PLDs of biological motion. Results revealed comparable brain responses to biological motion using fMRI and fNIRS in the right supramarginal gyrus. Further, social inclusion increased brain responses to biological motion in right supramarginal gyrus and posterior STS. Thus, fNIRS can reliably measure brain responses to biological motion and can detect social experience-dependent modulations of these brain responses.
C1 [Bolling, Danielle Z.; Pelphrey, Kevin A.; Kaiser, Martha D.] Yale Univ, Sch Med, Yale Child Study Ctr, New Haven, CT 06520 USA.
RP Bolling, DZ (reprint author), Yale Univ, Sch Med, Yale Child Study Ctr, 230 South Frontage Rd, New Haven, CT 06520 USA.
EM danielle.bolling@yale.edu
FU National Institute of Mental Health
FX The research presented herein was supported by grants from the National
Institute of Mental Health to Kevin Pelphrey.
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NR 52
TC 1
Z9 1
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0896-0267
J9 BRAIN TOPOGR
JI Brain Topogr.
PD APR
PY 2013
VL 26
IS 2
BP 315
EP 325
DI 10.1007/s10548-012-0253-y
PG 11
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA 211LV
UT WOS:000323910200009
PM 22941501
ER
PT J
AU Droucker, D
Curtin, S
Vouloumanos, A
AF Droucker, Danielle
Curtin, Suzanne
Vouloumanos, Athena
TI Linking Infant-Directed Speech and Face Preferences to Language Outcomes
in Infants at Risk for Autism Spectrum Disorder
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE autism spectrum disorder; speech perception; high-risk infants
ID JOINT VISUAL-ATTENTION; FACIAL EXPRESSIONS; AUDITORY PREFERENCES;
RECURRENCE RISK; CROSS-LANGUAGE; 1ST YEAR; CHILDREN; NEWBORNS;
RECOGNITION; MOTHERS
AB Purpose: In this study, the authors aimed to examine whether biases for infant-directed (ID) speech and faces differ between infant siblings of children with autism spectrum disorder (ASD) (SIBS-A) and infant siblings of typically developing children (SIBS-TD), and whether speech and face biases predict language outcomes and risk group membership.
Method: Thirty-six infants were tested at ages 6, 8, 12, and 18 months. Infants heard 2 ID and 2 adult-directed (AD) speech passages paired with either a checkerboard or a face. The authors assessed expressive language at 12 and 18 months and general functioning at 12 months using the Mullen Scales of Early Learning (Mullen, 1995).
Results: Both infant groups preferred ID to AD speech and preferred faces to checkerboards. SIBS-TD demonstrated higher expressive language at 18 months than did SIBS-A, a finding that correlated with preferences for ID speech at 12 months. Although both groups looked longer to face stimuli than to the checkerboard, the magnitude of the preference was smaller in SIBS-A and predicted expressive vocabulary at 18 months in this group. Infants' preference for faces contributed to risk-group membership in a logistic regression analysis.
Conclusion: Infants at heightened risk of ASD differ from typically developing infants in their preferences for ID speech and faces, which may underlie deficits in later language development and social communication.
C1 [Droucker, Danielle] Univ Calgary, Sch & Appl Child Psychol, Calgary, AB T2N 1N4, Canada.
[Curtin, Suzanne] Univ Calgary, Calgary, AB T2N 1N4, Canada.
[Vouloumanos, Athena] NYU, New York, NY USA.
RP Curtin, S (reprint author), Univ Calgary, Calgary, AB T2N 1N4, Canada.
EM scurtin@ucalgary.ca
FU Alberta Centre for Child, Family, and Community Research; New York
University
FX This research was supported by funds from the Alberta Centre for Child,
Family, and Community Research (awarded to the second author) and New
York University (awarded to the third author). We also thank the members
of the University of Calgary Speech Development Lab and the members of
the New York University Infant Cognition and Communication Lab for their
help with this research as well as all of the families who participated
in this study.
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NR 70
TC 4
Z9 4
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD APR 1
PY 2013
VL 56
IS 2
BP 567
EP 576
DI 10.1044/1092-4388(2012/11-0266)
PG 10
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA 191WO
UT WOS:000322445700016
PM 23690567
ER
PT J
AU Plumb, AM
Wetherby, AM
AF Plumb, Allison M.
Wetherby, Amy M.
TI Vocalization Development in Toddlers With Autism Spectrum Disorder
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE autism; autism spectrum disorder (ASD); vocalizations; early
identification
ID 2ND YEAR; YOUNG-CHILDREN; COMMUNICATION; PROFILES; LIFE; AGE;
INTERVENTION; PREDICTORS
AB Purpose: In this study, the authors aimed to examine the vocalizations of children with autism spectrum disorder (ASD) in the second year of life and their relationship to other areas of development.
Method: Vocalizations were examined in 125 children between ages 18 and 24 months: 50 later diagnosed with ASD, 25 with developmental delays (DD) in which ASD was ruled out, and 50 with typical development (TD). Precise measures of vocalizations were obtained through coding of video-recorded behavior samples from the Communication and Symbolic Behavior Scales Developmental Profile (Wetherby & Prizant, 2002b).
Results: The ASD group used a significantly lower proportion of vocalizations with speech sounds and a significantly higher proportion of atypical vocalizations than children with TD. The ASD group used a significantly higher proportion of distress vocalizations than the TD and DD groups. For the ASD group, the frequency of vocalizations with speech sounds correlated significantly with developmental levels both concurrently and predictively. In the ASD group, communicative vocalizations late in the second year were found to uniquely predict expressive language outcome at age 3 years above noncommunicative vocalizations.
Conclusions: Further examination of distress vocalizations as a potential early indicator of ASD is recommended. In addition, the importance of early communicative vocalizations for later language development is highlighted.
C1 [Plumb, Allison M.] Auburn Univ, Auburn, AL 36849 USA.
[Wetherby, Amy M.] Florida State Univ, Tallahassee, FL 32306 USA.
RP Plumb, AM (reprint author), Auburn Univ, Auburn, AL 36849 USA.
EM amp0016@auburn.edu
FU National Institute on Deafness and Other Communication Disorders (NIDCD)
[R01 DC007462]; U.S. Department of Education (USDOE) Office of Special
Education and Rehabilitation Services [H324C030112]; Centers for Disease
Control and Prevention (CDC) [1U10DD000064]
FX This research was supported in part by National Institute on Deafness
and Other Communication Disorders (NIDCD) Grant R01 DC007462; U.S.
Department of Education (USDOE) Office of Special Education and
Rehabilitation Services Grant H324C030112; and Cooperative Agreement
1U10DD000064 from the Centers for Disease Control and Prevention (CDC).
The contents of this article are solely the responsibility of the
authors and do not necessarily represent the official views of the
NIDCD, USDOE, or CDC. We thank the families and children who
participated in this research project. We also thank the FIRST WORDS
Project clinicians and coders who contributed to the collection and
analysis of the data reported in this article.
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NR 47
TC 4
Z9 4
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD APR 1
PY 2013
VL 56
IS 2
BP 721
EP 734
DI 10.1044/1092-4388(2012/11-0104)
PG 14
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA 191WO
UT WOS:000322445700028
PM 23275403
ER
PT J
AU Lai, MC
Lombardo, MV
Chakrabarti, B
Baron-Cohen, S
AF Lai, Meng-Chuan
Lombardo, Michael V.
Chakrabarti, Bhismadev
Baron-Cohen, Simon
TI Subgrouping the Autism "Spectrum": Reflections on DSM-5
SO PLOS BIOLOGY
LA English
DT Editorial Material
ID SEX-DIFFERENCES; DIAGNOSTIC-CRITERIA; FUNCTIONING AUTISM; DISORDERS;
CHILDREN; POPULATION; TRAITS; IV; CLASSIFICATION; TRAJECTORIES
C1 [Lai, Meng-Chuan; Lombardo, Michael V.; Chakrabarti, Bhismadev; Baron-Cohen, Simon] Univ Cambridge, Autism Res Ctr, Dept Psychiat, Cambridge, England.
[Lai, Meng-Chuan] Natl Taiwan Univ Hosp, Dept Psychiat, Taipei, Taiwan.
[Chakrabarti, Bhismadev] Univ Reading, Sch Psychol & Clin Language Sci, Ctr Integrat Neurosci & Neurodynam, Reading, Berks, England.
RP Lai, MC (reprint author), Univ Cambridge, Autism Res Ctr, Dept Psychiat, Cambridge, England.
EM mcl45@cam.ac.uk
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NR 68
TC 20
Z9 20
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1545-7885
J9 PLOS BIOL
JI PLoS. Biol.
PD APR
PY 2013
VL 11
IS 4
AR e1001544
DI 10.1371/journal.pbio.1001544
PG 7
WC Biochemistry & Molecular Biology; Biology
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
Topics
GA 140WT
UT WOS:000318687800022
PM 23630456
ER
PT J
AU Williams, TA
Langdon, R
Porter, MA
AF Williams, Tracey A.
Langdon, Robyn
Porter, Melanie A.
TI Hyper-reactivity in fragile X syndrome females: Generalised or specific
to socially-salient stimuli? A skin conductance study
SO INTERNATIONAL JOURNAL OF PSYCHOPHYSIOLOGY
LA English
DT Article
DE Fragile X syndrome; FXS; Skin conductance; Electrodermal response;
Social salience; Hyperarousal; Anxiety
ID PHYSIOLOGICAL AROUSAL; AMYGDALA DYSFUNCTION; CHILDREN; BEHAVIOR;
PREMUTATION; REACTIVITY; RESPONSES; AUTISM; BRAIN; GIRLS
AB Fragile X syndrome (FXS) is characterised by hyper-reactivity, autistic tendencies and social anxiety. It has been hypothesised that the FXS social phenotype is secondary to a generalised hyper-reactivity that leads to social avoidance. No study, however, has investigated whether hyperarousal in FXS is generalised or more specific to socially salient information. We recorded skin conductance responses (SCRs) while females with FXS, as well as chronological age-(CA-) and mental age-(MA-) matched controls, viewed two sets of visual images: direct-gaze emotional faces and affectively arousing scenes. Explicit emotion recognition and subjective ratings of emotions aroused by images were also recorded. Overall, females with FXS displayed hyper-reactivity only when viewing the more socially salient stimuli (emotional faces), compared to CA-matched controls, but not MA-matched controls. Moreover, females with FXS also displayed atypical emotion recognition abilities and subjective ratings of their own emotional states. These findings suggest that any hyper-reactivity observed in FXS may be more specific to socially salient stimuli, rather than generalised. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Williams, Tracey A.; Langdon, Robyn; Porter, Melanie A.] Macquarie Univ, ARC Ctr Excellence Cognit & Its Disorders, Sydney, NSW 2109, Australia.
[Williams, Tracey A.; Langdon, Robyn; Porter, Melanie A.] Macquarie Univ, Dept Cognit Sci, Sydney, NSW 2109, Australia.
[Williams, Tracey A.; Porter, Melanie A.] Macquarie Univ, Dept Psychol, Sydney, NSW 2109, Australia.
RP Williams, TA (reprint author), Macquarie Univ, Dept Cognit Sci, Sydney, NSW 2109, Australia.
EM tracey.shaw@mq.edu.au
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NR 56
TC 2
Z9 2
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0167-8760
J9 INT J PSYCHOPHYSIOL
JI Int. J. Psychophysiol.
PD APR
PY 2013
VL 88
IS 1
BP 26
EP 34
DI 10.1016/j.ijpsycho.2012.12.009
PG 9
WC Psychology, Biological; Neurosciences; Physiology; Psychology;
Psychology, Experimental
SC Psychology; Neurosciences & Neurology; Physiology
GA 154ZX
UT WOS:000319716300003
PM 23298451
ER
PT J
AU Spiegel, DR
AF Spiegel, David R.
TI N-Methyl-D-aspartate receptors and glutamate neurotransmission: an
overview in pathological conditions and treatment
SO ACTA NEUROPSYCHIATRICA
LA English
DT Editorial Material
ID NMDA; SCHIZOPHRENIA; BEHAVIORS; AUTISM; MICE
C1 Eastern Virginia Med Sch, Dept Psychiat & Behav Sci, Norfolk, VA 23507 USA.
RP Spiegel, DR (reprint author), Eastern Virginia Med Sch, Dept Psychiat & Behav Sci, Norfolk, VA 23507 USA.
EM spiegedr@evms.edu
CR Andreasen NC, 1997, SCHIZOPHR RES, V28, P105, DOI 10.1016/S0920-9964(97)00112-6
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NR 18
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0924-2708
J9 ACTA NEUROPSYCHIATR
JI Acta Neuropsychiatr.
PD APR
PY 2013
VL 25
IS 2
BP 63
EP 64
DI 10.1017/neu.2013.8
PG 2
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 166JK
UT WOS:000320550500001
ER
PT J
AU Bremaud, N
AF Bremaud, Nicolas
TI Islet of competence and "synthetical Other" in an Asperger case
SO EVOLUTION PSYCHIATRIQUE
LA French
DT Article
DE Psychoanalysis; Autism; Aspergers's syndrome; Competence; Other;
Clinical case; Literature; J. Verne; Theorical study
AB The famous case of P.-F. is an extraordinary example about Asperger autism. This case gives us with precision the fundamental symptoms described by Kanner (aloneness and sameness), but also many symptoms we can find into international or American classifications. According to a structural approach (see "L'autiste et sa voix" by J.-C. Maleval), this case clearly explains the specifical construction of "islet of competence" and the construction of a "synthetical Other". (C) 2012 Elsevier Masson SAS. All rights reserved.
C1 [Bremaud, Nicolas] Lab Psychopathol Nouveaux Symptomes & Lien Social, EA Rennes Haute Bretagne 4050 2, F-85300 Challans, France.
[Bremaud, Nicolas] IME Le Marais, F-85300 Challans, France.
[Bremaud, Nicolas] IME Les Terres Noires, F-85000 La Roche Sur Yon, France.
RP Bremaud, N (reprint author), Lab Psychopathol Nouveaux Symptomes & Lien Social, EA Rennes Haute Bretagne 4050 2, 13 Rue St Dominique, F-85300 Challans, France.
EM bremaudnicolas@yahoo.fr
CR Bruno P., 1992, SERIES DECOUVERTE FR, V8, P289
Grandin T., 1997, PENSER IMAGES
Lacan J, 2001, AUTRES ECRITS, P191
Maleval JC, 2009, AUSTISTE SA VOIX
Verne J., 1969, TOUR MONDE 80 JOURS
Williams D., 1992, SI ME TOUCHE JE NEXI
NR 6
TC 0
Z9 0
PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
PI PARIS
PA 23 RUE LINOIS, 75724 PARIS, FRANCE
SN 0014-3855
J9 EVOL PSYCHIATR
JI Evol. Psychiatr.
PD APR-JUN
PY 2013
VL 78
IS 2
BP 243
EP 248
DI 10.1016/j.evopsy.2012.09.006
PG 6
WC Psychiatry
SC Psychiatry
GA 168YO
UT WOS:000320744100005
ER
PT J
AU Mellier, D
AF Mellier, Denis
TI The violence of the rage in clinical practices in institution
SO EVOLUTION PSYCHIATRIQUE
LA French
DT Article
DE Affect; Therapeutic relation; Violence; Destructivity;
Intersubjectivity; Psychic envelope; Practice analysis; Nursing staff;
Institution; Clinical case
AB In institution, the teams have difficulties to cope with the violent demonstrations of the rage. The analysis of the rage in its intersubjective dimension brings a comprehensive model to their containing work. The rage replies to an attempt of differentiation of the subject, according to the process of the destruction of the primary object: 1) The rage has been theoretically defined by Kohut as an impulsive reaction facing a narcissistic injury. The need of the other becomes inside its own movement with the model of the "destruction of the object", extracted by Roussillon from the works of Winnicott on "the use of an object"; 2) Four vignettes put to the test this hypothesis. These clinical interventions come from the analysis of practices or the supervision of team (psychiatry services, home of handicapped adults or children, foster home); 3) Finally, the analysis shows that the rage is linked with the psychic envelope's dynamic. The rage appears in very different structures in psychopathology. It is as an explosive movement which jumbles the borders or the psychic envelopes. Its different forms are concomitant to the variations of the subject object differentiation according to pathologies (autism, psychosis, borderline pathologies). It is an attempt of repeated differentiation of the psychic envelops or spaces between the subject and his objects. So, in institution, its transformation depends on the recognition of its origin (the "ruthless love" in primitive relations) by the containing function of the team. (C) 2013 Elsevier Masson SAS. All rights reserved.
C1 Univ Franche Comte, MSHE, EA 3188, Lab Psychol,SFPPG, F-25000 Besancon, France.
RP Mellier, D (reprint author), Univ Franche Comte, MSHE, EA 3188, Lab Psychol,SFPPG, 30 Rue Megevand, F-25000 Besancon, France.
EM denis.mellier@univ-fcomte.ir
RI Mellier, Denis/F-4274-2014
OI Mellier, Denis/0000-0002-6763-242X
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NR 37
TC 1
Z9 1
PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
PI PARIS
PA 23 RUE LINOIS, 75724 PARIS, FRANCE
SN 0014-3855
J9 EVOL PSYCHIATR
JI Evol. Psychiatr.
PD APR-JUN
PY 2013
VL 78
IS 2
BP 313
EP 326
DI 10.1016/j.evopsy.2013.02.001
PG 14
WC Psychiatry
SC Psychiatry
GA 168YO
UT WOS:000320744100011
ER
PT J
AU Hansel, K
AF Hansel, Kendra
TI Rethinking Insurance Coverage of "Experimental" Applied Behavioral
Analysis Therapy and Its Usefulness in Combating Autism Spectrum
Disorder
SO JOURNAL OF LEGAL MEDICINE
LA English
DT Article
C1 [Hansel, Kendra] So Illinois Univ, Carbondale, IL 62901 USA.
RP Hansel, K (reprint author), So Illinois Univ, Sch Law, Law Journal Off, 251 Lesar Law Bldg, Carbondale, IL 62901 USA.
EM khan2@siu.edu
CR Augustine Mato Topa, 2010, THESIS NE U
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NR 30
TC 0
Z9 0
PU TAYLOR & FRANCIS INC
PI PHILADELPHIA
PA 325 CHESTNUT ST, SUITE 800, PHILADELPHIA, PA 19106 USA
SN 0194-7648
J9 J LEGAL MED
JI J. Legal Med.
PD APR 1
PY 2013
VL 34
IS 2
BP 215
EP 233
DI 10.1080/01947648.2013.800798
PG 19
WC Law; Social Sciences, Biomedical
SC Government & Law; Biomedical Social Sciences
GA 166QH
UT WOS:000320571700003
PM 23980747
ER
PT J
AU Penprase, B
Oakley, B
Ternes, R
Driscoll, D
AF Penprase, Barbara
Oakley, Barbara
Ternes, Reuben
Driscoll, Dana
TI Empathy as a Determining Factor for Nursing Career Selection
SO JOURNAL OF NURSING EDUCATION
LA English
DT Article
ID HIGH-FUNCTIONING AUTISM; NORMAL SEX-DIFFERENCES; SYSTEMATIZING QUOTIENT;
ASPERGER-SYNDROME; PROGRAM; ADULTS; STYLE; SELF
AB The ability to empathize with others is a highly desirable characteristic for the delivery of quality care by nurses. Little research is available that explores the empathy characteristics of students who are attracted to nursing. The purpose of this study is to explore whether empathizing and systemizing characteristics are important factors underlying students' self-selection into and continuing success in nursing programs and whether the importance of these characteristics tends to differ for men and women who choose nursing as a career. A descriptive correlative design was used for this study of 1,872 undergraduates enrolled in a variety of majors, including nursing, at a large midwestern U. S. research university. Findings supported that nursing students had significantly higher empathy characteristics than students in other disciplines.
C1 [Penprase, Barbara] Oakland Univ, Sch Nursing, Rochester, MI 48309 USA.
[Oakley, Barbara] Oakland Univ, Dept Engn, Rochester, MI 48309 USA.
[Ternes, Reuben] Oakland Univ, Dept Inst Res, Rochester, MI 48309 USA.
[Driscoll, Dana] Oakland Univ, Dept Writing & Rhetor, Rochester, MI 48309 USA.
RP Penprase, B (reprint author), Oakland Univ, Sch Nursing, 2200 N Squirrel Rd,2002 HHB, Rochester, MI 48309 USA.
EM penprase@oakland.edu
CR Abendroth M., 2006, J HOSP PALLIAT NURS, V8, P346, DOI 10.1097/00129191-200611000-00007
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BARONCOHEN S, 2007, ESSENTIAL DIFFERENCE
Batson CD, 2009, SOCIAL NEUROSCIENCE OF EMPATHY, P3
Beecroft PC, 2001, J NURS ADMIN, V31, P575, DOI 10.1097/00005110-200112000-00008
Benner P., 2009, EXPERTISE NURSING PR
Billington J, 2007, LEARN INDIVID DIFFER, V17, P260, DOI 10.1016/j.lindif.2007.02.004
Buxbaum JD, 2010, MOL AUTISM, V1, DOI 10.1186/2040-2392-1-1
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Yu JP, 2008, J ADV NURS, V64, P440, DOI 10.1111/j.1365-2648.2008.04831.x
Yu JP, 2009, J ADV NURS, V65, P1790, DOI 10.1111/j.1365-2648.2009.05071.x
Zachariae R, 2003, BRIT J CANCER, V88, P658, DOI 10.1038/sj.bjc.6600798
Zahn-Waxler C, 2008, ANNU REV CLIN PSYCHO, V4, P275, DOI [10.1146/annurev.clinpsy.3.022806.091358, 10.1146/annurev.clinpsy.3.022806.0913]
NR 42
TC 0
Z9 0
PU SLACK INC
PI THOROFARE
PA 6900 GROVE RD, THOROFARE, NJ 08086 USA
SN 0148-4834
J9 J NURS EDUC
JI J. Nurs. Educ.
PD APR
PY 2013
VL 52
IS 4
BP 192
EP 197
DI 10.3928/01484834-20130314-02
PG 6
WC Nursing
SC Nursing
GA 161MW
UT WOS:000320198200003
PM 23480066
ER
PT J
AU Aldridge, K
George, ID
Austin, JR
Duan, Y
Miles, JH
AF Aldridge, Kristina
George, Ian D.
Austin, Jordan R.
Duan, Ye
Miles, Judith H.
TI Patterns of morphological integration of the face in boys with autism
spectrum disorders
SO FASEB JOURNAL
LA English
DT Meeting Abstract
CT Joint Annual Meeting of the ASPET/BPS at Experimental Biology (EB)
CY APR 20-24, 2013
CL Boston, MA
SP ASPET, British Pharmacol Soc (BPS)
C1 [Aldridge, Kristina; George, Ian D.; Austin, Jordan R.; Miles, Judith H.] Univ Missouri, Sch Med, Columbia, MO USA.
[Duan, Ye; Miles, Judith H.] Thompson Ctr Autism Neurodev Disorders, Columbia, MO USA.
[Duan, Ye] Univ Missouri, Columbia, MO USA.
NR 0
TC 0
Z9 0
PU FEDERATION AMER SOC EXP BIOL
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998 USA
SN 0892-6638
J9 FASEB J
JI Faseb J.
PD APR
PY 2013
VL 27
MA 963.6
PG 1
WC Biochemistry & Molecular Biology; Biology; Cell Biology
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
Topics; Cell Biology
GA 157GG
UT WOS:000319883502549
ER
PT J
AU Al-Farsi, YM
Al-Khaduri, M
Al-Sumri, H
Al-Farsi, O
Al-Sharbati, M
Waly, M
Ouhtit, A
Al-Shafaee, M
AF Al-Farsi, Yahya M.
Al-Khaduri, Maha
Al-Sumri, Hanaa
Al-Farsi, Omar
Al-Sharbati, Marwan
Waly, Mostafa
Ouhtit, Allal
Al-Shafaee, Mohammed
TI Association of gestational diabetes mellitus with occurrence of Autism:
A Cohort Study
SO FASEB JOURNAL
LA English
DT Meeting Abstract
CT Joint Annual Meeting of the ASPET/BPS at Experimental Biology (EB)
CY APR 20-24, 2013
CL Boston, MA
SP ASPET, British Pharmacol Soc (BPS)
C1 [Al-Farsi, Yahya M.] Sultan Qaboos Univ, Coll Med, Muscat, Oman.
[Al-Khaduri, Maha; Al-Sumri, Hanaa; Al-Farsi, Omar; Al-Sharbati, Marwan; Waly, Mostafa; Ouhtit, Allal; Al-Shafaee, Mohammed] Sultan Qaboos Univ, Muscat, Oman.
NR 0
TC 0
Z9 0
PU FEDERATION AMER SOC EXP BIOL
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998 USA
SN 0892-6638
J9 FASEB J
JI Faseb J.
PD APR
PY 2013
VL 27
MA lb111
PG 1
WC Biochemistry & Molecular Biology; Biology; Cell Biology
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
Topics; Cell Biology
GA 157GG
UT WOS:000319883503125
ER
PT J
AU Bandini, L
Curtin, C
Anderson, S
Philips, S
Must, A
AF Bandini, Linda
Curtin, Carol
Anderson, Sarah
Philips, Sarah
Must, Aviva
TI Food as a reward and weight status in children with autism
SO FASEB JOURNAL
LA English
DT Meeting Abstract
CT Joint Annual Meeting of the ASPET/BPS at Experimental Biology (EB)
CY APR 20-24, 2013
CL Boston, MA
SP ASPET, British Pharmacol Soc (BPS)
C1 [Bandini, Linda; Curtin, Carol] Univ Massachusetts, Sch Med, Eunice Kennedy Shriver Ctr, Waltham, MA USA.
[Bandini, Linda] Boston Univ, Dept Hlth Sci, Boston, MA 02215 USA.
[Anderson, Sarah] Ohio State Univ, Coll Publ Hlth, Div Epidemiol, Columbus, OH 43210 USA.
[Philips, Sarah; Must, Aviva] Tufts Univ, Sch Med, Dept Publ Hlth & Community Med, Boston, MA 02111 USA.
NR 0
TC 0
Z9 0
PU FEDERATION AMER SOC EXP BIOL
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998 USA
SN 0892-6638
J9 FASEB J
JI Faseb J.
PD APR
PY 2013
VL 27
MA 1063.11
PG 1
WC Biochemistry & Molecular Biology; Biology; Cell Biology
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
Topics; Cell Biology
GA 157GG
UT WOS:000319883505295
ER
PT J
AU Charvet, C
Finlay, BL
AF Charvet, Christine
Finlay, Barbara L.
TI Phylogenetic based variation in autism
SO FASEB JOURNAL
LA English
DT Meeting Abstract
CT Joint Annual Meeting of the ASPET/BPS at Experimental Biology (EB)
CY APR 20-24, 2013
CL Boston, MA
SP ASPET, British Pharmacol Soc (BPS)
C1 [Charvet, Christine; Finlay, Barbara L.] Cornell Univ, Ithaca, NY USA.
NR 0
TC 0
Z9 0
PU FEDERATION AMER SOC EXP BIOL
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998 USA
SN 0892-6638
J9 FASEB J
JI Faseb J.
PD APR
PY 2013
VL 27
MA 755.1
PG 1
WC Biochemistry & Molecular Biology; Biology; Cell Biology
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
Topics; Cell Biology
GA 156YK
UT WOS:000319860501287
ER
PT J
AU Dobson, S
AF Dobson, Seth
TI Neuroanatomical causes and social consequences of variation in facial
motor control: what comparative primatology can teach us about autism
spectrum disorders
SO FASEB JOURNAL
LA English
DT Meeting Abstract
CT Joint Annual Meeting of the ASPET/BPS at Experimental Biology (EB)
CY APR 20-24, 2013
CL Boston, MA
SP ASPET, British Pharmacol Soc (BPS)
C1 [Dobson, Seth] Dartmouth Coll, Dept Anthropol, Hanover, NH 03755 USA.
NR 0
TC 0
Z9 0
PU FEDERATION AMER SOC EXP BIOL
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998 USA
SN 0892-6638
J9 FASEB J
JI Faseb J.
PD APR
PY 2013
VL 27
MA 192.2
PG 1
WC Biochemistry & Molecular Biology; Biology; Cell Biology
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
Topics; Cell Biology
GA 157GG
UT WOS:000319883501179
ER
PT J
AU Ekvall, SM
Fugazzi, P
Stevens, F
Ekvall, V
AF Ekvall, Shirley Maxine
Fugazzi, Patricia
Stevens, Florence
Ekvall, Valli
TI Anthropometric Measurements, Dietary Intakes, Mealtime and Other
Behaviors of Children with Autism
SO FASEB JOURNAL
LA English
DT Meeting Abstract
CT Joint Annual Meeting of the ASPET/BPS at Experimental Biology (EB)
CY APR 20-24, 2013
CL Boston, MA
SP ASPET, British Pharmacol Soc (BPS)
C1 [Ekvall, Shirley Maxine] Univ Cincinnati, Dept Nutr, Cincinnati, OH USA.
[Fugazzi, Patricia; Stevens, Florence; Ekvall, Valli] Childrens Hosp, Med Ctr, Cincinnati, OH 45229 USA.
NR 0
TC 0
Z9 0
PU FEDERATION AMER SOC EXP BIOL
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998 USA
SN 0892-6638
J9 FASEB J
JI Faseb J.
PD APR
PY 2013
VL 27
MA 1060.25
PG 1
WC Biochemistry & Molecular Biology; Biology; Cell Biology
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
Topics; Cell Biology
GA 157GG
UT WOS:000319883504482
ER
PT J
AU Rubio-Marrero, EN
Falivelli, G
Kim, H
Comoletti, D
AF Rubio-Marrero, Eva N.
Falivelli, Giulia
Kim, Hyuck
Comoletti, Davide
TI Interaction of TAG1 and CASPR2, Proteins Associated to Autism Disorder?
SO FASEB JOURNAL
LA English
DT Meeting Abstract
CT Joint Annual Meeting of the ASPET/BPS at Experimental Biology (EB)
CY APR 20-24, 2013
CL Boston, MA
SP ASPET, British Pharmacol Soc (BPS)
C1 [Rubio-Marrero, Eva N.; Kim, Hyuck; Comoletti, Davide] Child Hlth Inst New Jersey, New Brunswick, NJ USA.
[Falivelli, Giulia] Univ Calif San Diego, La Jolla, CA 92093 USA.
NR 0
TC 0
Z9 0
PU FEDERATION AMER SOC EXP BIOL
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998 USA
SN 0892-6638
J9 FASEB J
JI Faseb J.
PD APR
PY 2013
VL 27
MA 553.6
PG 1
WC Biochemistry & Molecular Biology; Biology; Cell Biology
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
Topics; Cell Biology
GA 157GG
UT WOS:000319883505605
ER
PT J
AU Molero, Y
Gumpert, C
Serlachius, E
Lichtenstein, P
Walum, H
Johansson, D
Anckarsater, H
Westberg, L
Eriksson, E
Halldner, L
AF Molero, Y.
Gumpert, C.
Serlachius, E.
Lichtenstein, P.
Walum, H.
Johansson, D.
Anckarsater, H.
Westberg, L.
Eriksson, E.
Halldner, L.
TI A study of the possible association between adenosine A(2A) receptor
gene polymorphisms and attention-deficit hyperactivity disorder traits
SO GENES BRAIN AND BEHAVIOR
LA English
DT Article
DE Adenosine A(2A) receptor (ADORA2A); ADHD; association study; gene
polymorphisms
ID GENOME-WIDE ASSOCIATION; SPONTANEOUSLY HYPERTENSIVE-RATS;
CAFFEINE-INDUCED ANXIETY; DEFICIT/HYPERACTIVITY DISORDER;
MOLECULAR-GENETICS; TELEPHONE INTERVIEW; NERVOUS-SYSTEM; AUTISM-TICS;
A-TAC; METAANALYSIS
AB The adenosine A(2A) receptor (ADORA2A) is linked to the dopamine neurotransmitter system and is also implicated in the regulation of alertness, suggesting a potential association with attention-deficit hyperactivity disorder (ADHD) traits. Furthermore, animal studies suggest that the ADORA2A may influence ADHD-like behavior. For that reason, the ADORA2A gene emerges as a promising candidate for studying the etiology of ADHD traits. The aim of this study was to examine the relationship between ADORA2A gene polymorphisms and ADHD traits in a large population-based sample. This study was based on the Child and Adolescent Twin Study in Sweden (CATSS), and included 1747 twins. Attention-deficit hyperactivity disorder traits were assessed through parental reports, and samples of DNA were collected. Associations between six single nucleotide polymorphisms (SNPs) and ADHD traits were examined, and results suggested a nominal association between ADHD traits and three of these SNPs: rs3761422, rs5751876 and rs35320474. For one of the SNPs, rs35320474, results remained significant after correction for multiple comparisons. These results indicate the possibility that the ADORA2A gene may be involved in ADHD traits. However, more studies replicating the present results are warranted before this association can be confirmed.
C1 [Molero, Y.; Gumpert, C.; Serlachius, E.] Karolinska Inst, Dept Clin Neurosci, SE-17177 Stockholm, Sweden.
[Lichtenstein, P.; Walum, H.; Halldner, L.] Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17177 Stockholm, Sweden.
[Johansson, D.; Westberg, L.; Eriksson, E.] Univ Gothenburg, Dept Pharmacol, Gothenburg, Sweden.
[Anckarsater, H.] Univ Gothenburg, Inst Neurosci & Physiol, Gothenburg, Sweden.
[Halldner, L.] Karolinska Inst, Ctr Neurodev Disorders KIND, SE-17177 Stockholm, Sweden.
RP Molero, Y (reprint author), Karolinska Inst, MEB, Box 281, SE-17177 Stockholm, Sweden.
EM yasmina.molero.samuelson@ki.se
RI Serlachius, Eva/E-8956-2013
OI Serlachius, Eva/0000-0001-7115-6422
FU Karolinska Institutet; Karolinska Institutet Center of
Neurodevelopmental Disorders (KIND); Swedish Department of Higher
Education; Swedish Council For Working Life and Social Research; Swedish
Research Council; Soderberg's foundation; Hallstens Foundation; Swedish
Brain Foundation
FX Funding for this study was provided by Karolinska Institutet, Karolinska
Institutet Center of Neurodevelopmental Disorders (KIND), the Swedish
Department of Higher Education, the Swedish Council For Working Life and
Social Research, the Swedish Research Council, Soderberg's foundation,
Hallstens Foundation and the Swedish Brain Foundation. Dr Staffan
Nilsson is gratefully acknowledged for valuable statistical advice, and
Dr Patrik Magnusson is gratefully acknowledged for valuable advice on
methodological aspects of genetic association studies. The authors
declare no conflicts of interest.
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NR 36
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1601-1848
J9 GENES BRAIN BEHAV
JI Genes Brain Behav.
PD APR
PY 2013
VL 12
IS 3
BP 305
EP 310
DI 10.1111/gbb.12015
PG 6
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 156PG
UT WOS:000319834200003
PM 23332182
ER
PT J
AU Douglas-Escobar, M
Elliott, E
Neu, J
AF Douglas-Escobar, Martha
Elliott, Elizabeth
Neu, Josef
TI Effect of Intestinal Microbial Ecology on the Developing Brain
SO JAMA PEDIATRICS
LA English
DT Review
ID GUT MICROBIOTA; NECROTIZING ENTEROCOLITIS; BEHAVIOR; DISEASE; MICE;
COLONIZATION; ACTIVATION; INFANCY; OBESITY; HEALTH
AB he mammalian gastrointestinal tract harbors a highly diverse microbial population that plays a major role in nutrition, metabolism, protection against pathogens, and development of the immune system. It is estimated that at least 1000 different bacterial species cohabit the human intestinal tract. Most recently, the Human Microbiome Project, using new genomic technologies, has started a catalog of specific microbiome composition and its correlation with health and specific diseases. Herein we provide a brief review of the intestinal microbiome, with a focus on new studies showing that there is an important link between the microbes that inhabit the intestinal tract and the developing brain. With future research, an understanding of this link may help us to treat various neurobehavioral problems such as autism, schizophrenia, and anxiety.
C1 [Douglas-Escobar, Martha; Elliott, Elizabeth; Neu, Josef] Univ Florida, Dept Pediat, Div Neonatol, Gainesville, FL 32610 USA.
RP Neu, J (reprint author), Univ Florida, Dept Pediat, Div Neonatol, 1600 SW Archer Rd,Human Dev Bldg,HD 112, Gainesville, FL 32610 USA.
EM neuj@peds.ufl.edu
FU National Institute of Child Health and Human Development [RO1 HD 059143]
FX This work was supported by the National Institute of Child Health and
Human Development (grant RO1 HD 059143 to Dr Neu).
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Zupancic Julie, 2009, Nurs Womens Health, V13, P59, DOI 10.1111/j.1751-486X.2009.01380.x
NR 45
TC 29
Z9 32
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 515 N STATE ST, CHICAGO, IL 60654-0946 USA
SN 2168-6203
J9 JAMA PEDIATR
JI JAMA Pediatr.
PD APR
PY 2013
VL 167
IS 4
BP 374
EP 379
DI 10.1001/jamapediatrics.2013.497
PG 6
WC Pediatrics
SC Pediatrics
GA 156MH
UT WOS:000319825800011
PM 23400224
ER
PT J
AU Krieger, AE
Saias, T
Adrien, JL
AF Krieger, A. -E.
Saias, T.
Adrien, J. -L.
TI Promoting family-professional partnership in institutions for children
with autism
SO ENCEPHALE-REVUE DE PSYCHIATRIE CLINIQUE BIOLOGIQUE ET THERAPEUTIQUE
LA French
DT Article
DE Parents-professionals partnership; Autism; Enabling; Empowerment
AB Objective. - The present study aims to evaluate the impact of the Family-Professional Partnership Model on parents' perception of being enabled and empowered in the treatment of their autistic children. In the context of treatment for children with autism, the Family-Professional Partnership Model strives to create an egalitarian relationship between parents and mental health professionals and it encourages parents to actively participate in their child's treatment. To evaluate the effectiveness of the Family-Professional Partnership Model at enabling and empowering parents of autistic children at the IME, parents of autistic children (n = 18) completed the EPS and the PES.
Method. - For the purposes of this study, the EPS and the PES were translated into French. Eighteen parent couples of autistic children (ages 4-13 years) receiving treatment at the IME for 1 to 2 years agreed to participate. Participants' responses to the EPS were correlated with their responses to the PES.
Results. - Parent scores on the EPS significantly correlated with their scores on the PES. Father scores on the two measurements correlated significantly, Whereas the correlation between mother scores on these measurements remained insignificant.
Conclusion. - The findings of this study are limited by the small sample size (n = 18) but they suggest that the Family-Professional Partnership Model had a positive impact on parent enablement and empowerment in taking care of their autistic children. Future studies should evaluate enablement and empowerment in a larger sample of subjects. They should also evaluate specific factors in the Family-Professional Partnership that lead to parent empowerment. (C) L'Encephale, Paris, 2012.
C1 [Krieger, A. -E.; Saias, T.; Adrien, J. -L.] Univ Paris 05, Lab Psychopathol & Proc Sante, F-92774 Boulogne, France.
[Saias, T.] Univ Quebec, Montreal, PQ H3C 3P8, Canada.
RP Krieger, AE (reprint author), Univ Paris 05, Lab Psychopathol & Proc Sante, 71 Ave Edouard Vaillant, F-92774 Boulogne, France.
EM anne.emmanuelle.krieger@gmail.com; th.saias@gmail.com
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Boudreault P, 1998, COMPRENDRE FAMILLE
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NR 10
TC 0
Z9 0
PU MASSON EDITEUR
PI MOULINEAUX CEDEX 9
PA 21 STREET CAMILLE DESMOULINS, ISSY, 92789 MOULINEAUX CEDEX 9, FRANCE
SN 0013-7006
J9 ENCEPHALE
JI Enceph.-Rev. Psychiatr. Clin. Biol. Ther.
PD APR
PY 2013
VL 39
IS 2
BP 130
EP 136
DI 10.1016/j.encep.2012.06.002
PG 7
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 149IM
UT WOS:000319312200008
PM 23095583
ER
PT J
AU Minjarez, MB
Mercier, EM
Williams, SE
Hardan, AY
AF Minjarez, Mendy Boettcher
Mercier, Emma M.
Williams, Sharon E.
Hardan, Antonio Y.
TI Impact of Pivotal Response Training Group Therapy on Stress and
Empowerment in Parents of Children With Autism
SO JOURNAL OF POSITIVE BEHAVIOR INTERVENTIONS
LA English
DT Article
DE autism; pivotal; applied behavior analysis; parent training; parent
education
ID SOCIAL SUPPORT; EDUCATION; MOTHERS; PATHWAYS; PROGRAM; HEALTH
AB Parents of children with autism are increasingly being considered as primary agents of intervention for their children. The goal of this study was to evaluate whether participating in a pivotal response training (PRT) group therapy program for parents of children with autism influenced related aspects of parents' lives, namely, their levels of stress and empowerment. Seventeen families participated in a 10-week therapy group designed to train parents to use PRT, with a specific focus on their children's language deficits. Measures of empowerment and stress were obtained at baseline and at the end of the trial. Ratings on the Parenting Stress Index/Short Form and the Family Empowerment Scale showed significant changes from pre- to posttreatment, indicating that parents felt higher levels of empowerment and lower levels of stress after the 10-week group program. Notably, stress related to parent-child interactions was most reduced. Possible causal factors and implications are discussed.
C1 [Minjarez, Mendy Boettcher] Seattle Childrens Hosp, Seattle Childrens Res Inst, Seattle, WA USA.
[Mercier, Emma M.] Univ Durham, Sch Educ, Durham DH1 3HP, England.
[Williams, Sharon E.; Hardan, Antonio Y.] Stanford Univ, Sch Med, Div Child Psychiat, Stanford, CA 94305 USA.
[Minjarez, Mendy Boettcher; Mercier, Emma M.; Williams, Sharon E.; Hardan, Antonio Y.] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Lucile Packard Childrens Hosp, Stanford, CA 94305 USA.
RP Minjarez, MB (reprint author), Seattle Childrens Autism Ctr, POB 5371,M-S CAC, Seattle, WA 98145 USA.
EM mendy.minjarez@seattlechildrens.org
CR Abidin RR, 1995, PARENTING STRESS IND
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 29
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1098-3007
J9 J POSIT BEHAV INTERV
JI J. Posit. Behav. Interv.
PD APR
PY 2013
VL 15
IS 2
BP 71
EP 78
DI 10.1177/1098300712449055
PG 8
WC Psychology, Clinical; Education, Special
SC Psychology; Education & Educational Research
GA 152JG
UT WOS:000319527300002
ER
PT J
AU Muskett, T
Body, R
Perkins, M
AF Muskett, Tom
Body, Richard
Perkins, Mick
TI A discursive psychology critique of semantic verbal fluency assessment
and its interpretation
SO THEORY & PSYCHOLOGY
LA English
DT Article
DE autism; concepts; conversation analysis; discursive psychology; verbal
fluency
ID NORMAL-CHILDREN; WORD FLUENCY; CATEGORIES; PROTOTYPICALITY; LANGUAGE;
AUTISM
AB Semantic verbal fluency (SVF), a psychological assessment method used in experimental research and clinical practice, requires participants to produce as many words as possible from a given superordinate category (e. g., "animals," "vehicles"). Features of responses, such as the prototypicality and ordering of items, are then interpreted as if revealing details about the organisation-or, in instances of ostensibly atypical performance, disorganisation-of participants' underlying conceptual and/or semantic systems. In this paper, we draw upon perspectives from Discursive Psychology, particularly the work of Derek Edwards (e. g., Edwards, 1997), to argue against this position. Following critical discussion of SVF's strongly cognitivist theoretical foundations, we present analyses of social interactions across various contexts, including the real-life administration of the paradigm with a child with autism, to suggest that performance is unavoidably socially mediated rather than solely internally driven. Our arguments challenge SVF's validity and its role in the description of "cognitive disorder."
C1 [Muskett, Tom; Perkins, Mick] Univ Sheffield, Dept Human Commun Sci, Sheffield S11 7GX, S Yorkshire, England.
[Body, Richard] Univ Sheffield, Sheffield S11 7GX, S Yorkshire, England.
RP Muskett, T (reprint author), Univ Sheffield, Dept Human Commun Sci, 31 Claremont Crescent, Sheffield S11 7GX, S Yorkshire, England.
EM t.muskett@sheffield.ac.uk
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NR 32
TC 3
Z9 3
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0959-3543
J9 THEOR PSYCHOL
JI Theory Psychol.
PD APR
PY 2013
VL 23
IS 2
BP 205
EP 226
DI 10.1177/0959354312472097
PG 22
WC Psychology, Multidisciplinary
SC Psychology
GA 148BZ
UT WOS:000319218800004
ER
PT J
AU Rosqvist, HB
Brownlow, C
O'Dell, L
AF Rosqvist, Hanna Bertilsdotter
Brownlow, Charlotte
O'Dell, Lindsay
TI Mapping the social geographies of autism online and off-line narratives
of neuro-shared and separate spaces
SO DISABILITY & SOCIETY
LA English
DT Article
DE disability geography; people with autism; neuro-separate space;
neuro-shared space; online communities; self-advocacy press
ID PEOPLE; CHILDREN; DISABILITIES; PARENTS; INCLUSION; EXCLUSION; IDENTITY;
STIGMA; VOICES; PLACE
AB This paper draws together empirical work that has been produced by the authors in two different autistic spaces: the Swedish magazine Empowerment produced by and aimed at adults with autism, and English-speaking autistic communities online. While the two points of data collection are quite different, there are important points of commonality that enable us to explore central issues concerning autistic and neurotypical space and the meanings assigned to these in different contexts. The paper aims to introduce the notion of social geographies of autism, based on talks among adults with autism and a social movement to promote autistic identities, giving examples from our previous work that has spanned both online and off-line spaces. Key issues discussed in the paper include a focus on autistic political platforms and the carving out of both social and political spaces for people with autism. In doing so, neuro-separate and neuro-shared spaces must be negotiated.
C1 [Rosqvist, Hanna Bertilsdotter] Umea Univ, Dept Sociol, Umea, Sweden.
[Rosqvist, Hanna Bertilsdotter] Umea Univ, Umea Ctr Gender Studies, Umea, Sweden.
[Brownlow, Charlotte] Univ So Queensland, Dept Psychol, Toowoomba, Qld 4350, Australia.
[O'Dell, Lindsay] Open Univ, Fac Hlth & Social Care, Milton Keynes MK7 6AA, Bucks, England.
RP Rosqvist, HB (reprint author), Umea Univ, Dept Sociol, Umea, Sweden.
EM Hanna.Bertilsdotter@soc.umu.se
CR Bachhofer A. L., 2006, THESIS OKLAHOMA STAT
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NR 36
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0968-7599
J9 DISABIL SOC
JI Disabil. Soc.
PD APR 1
PY 2013
VL 28
IS 3
BP 367
EP 379
DI 10.1080/09687599.2012.714257
PG 13
WC Rehabilitation; Social Sciences, Interdisciplinary
SC Rehabilitation; Social Sciences - Other Topics
GA 146OU
UT WOS:000319101200006
ER
PT J
AU Ranick, J
Persicke, A
Tarbox, J
Kornack, JA
AF Ranick, Jennifer
Persicke, Angela
Tarbox, Jonathan
Kornack, Jake A.
TI Teaching children with autism to detect and respond to deceptive
statements
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Deception; Non-literal language; Multiple exemplar training; Bullying;
Relational Frame Theory
ID SPECTRUM DISORDERS; MIND; ADOLESCENTS
AB Previous research has shown that children with autism often have deficits in deception, both in the ability to lie to others and in the ability to detect when they are being lied to. Additionally, children with autism are frequently the victims of bullying and difficulty with understanding deception likely makes the population more vulnerable to bullying. The purpose of this study was to teach individuals with autism to identify when others were lying to them, specifically to exclude them or to take their possessions. The treatment package consisted of multiple exemplar training, including rules, modeling, role-play, and immediate feedback. The results indicated that the procedure was effective for all three participants. Additionally, generalization was demonstrated to novel, untrained lies and to same-age peer confederates who were not involved in training. (C) 2012 Elsevier Ltd. All rights reserved.
EM j.tarbox@centerforautism.com
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van Roekel E, 2010, J AUTISM DEV DISORD, V40, P63, DOI 10.1007/s10803-009-0832-2
NR 18
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD APR
PY 2013
VL 7
IS 4
BP 503
EP 508
DI 10.1016/j.rasd.2012.12.001
PG 6
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 152OA
UT WOS:000319539800001
ER
PT J
AU Neely, L
Rispoli, M
Camargo, S
Davis, H
Boles, M
AF Neely, Leslie
Rispoli, Mandy
Camargo, Siglia
Davis, Heather
Boles, Margot
TI The effect of instructional use of an iPad (R) on challenging behavior
and academic engagement for two students with autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE iPad (R); Autism spectrum disorder; Challenging behavior; Academic
demand
ID COMPUTER-BASED INTERVENTIONS; SPECTRUM DISORDERS; INTELLECTUAL
DISABILITIES; MOTIVATING OPERATIONS; CHILDREN; SKILLS; IPOD;
INDIVIDUALS; CLASSROOM
AB iPads (R) are increasingly used in the education of children with autism spectrum disorder. However, few empirical studies have examined the effects of iPads (R) on student behaviors. The purpose of this study was to compare academic instruction delivered with an iPad (R) to instruction delivered through traditional materials for two students with autism spectrum disorder who engaged in escape-maintained challenging behavior. An ABAB reversal design was utilized in which academic instruction with an iPad (R) and academic instruction with traditional materials were compared. Both participants demonstrated lower levels of challenging behavior and higher levels of academic engagement in the iPad (R) condition and higher levels of challenging behavior with lower levels of academic engagement during the traditional materials condition. These results suggest that the use of an iPad (R) as a means of instructional delivery may reduce escape-maintained behavior for some children with autism. Suggestions for future research directions are discussed. (C) 2013 Published by Elsevier Ltd.
C1 [Neely, Leslie; Rispoli, Mandy; Camargo, Siglia; Davis, Heather; Boles, Margot] Texas A&M Univ, College Stn, TX 77843 USA.
RP Neely, L (reprint author), Texas A&M Univ, Dept Educ Psychol, 4225 TAMU, College Stn, TX 77843 USA.
EM cockeril@neo.tamu.edu
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NR 27
TC 11
Z9 11
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD APR
PY 2013
VL 7
IS 4
BP 509
EP 516
DI 10.1016/j.rasd.2012.12.004
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 152OA
UT WOS:000319539800002
ER
PT J
AU Occelli, V
Esposito, G
Venuti, P
Arduino, GM
Zampini, M
AF Occelli, Valeria
Esposito, Gianluca
Venuti, Paola
Arduino, Giuseppe Maurizio
Zampini, Massimiliano
TI Attentional shifts between audition and vision in Autism Spectrum
Disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Attention; Shifting; Autism Spectrum Disorders (ASDs); Multisensory;
Auditory; Visual
ID SENSORY OVER-RESPONSIVITY; EVENT-RELATED POTENTIALS; YOUNG-CHILDREN;
ABNORMALITIES; CEREBELLAR; DEFICITS; IMPAIRMENT; HYPOPLASIA; BEHAVIOR;
BINDING
AB Previous evidence on neurotypical adults shows that the presentation of a stimulus allocates the attention to its modality, resulting in faster responses to a subsequent target presented in the same (vs. different) modality. People with Autism Spectrum Disorders (ASDs) often fail to detect a (visual or auditory) target in a stream of stimuli after shifting attention between modalities, possibly because they do not fully switch their attention from one modality to the other. In this study, the performance of a group of high-functioning patients with ASDs and a group of neurotypical controls was compared. Participants were asked to detect a target, auditory or visual, which was preceded, at different temporal intervals (i.e., 150, 600, 1000 ms), by an uninformative cue, either in the same or a different modality. In controls, when the target was visual, the cue modality did not affect performance. Unlike, when the target was auditory, a visual cue produced longer reaction times as compared to when it was auditory. In the ASD group, irrespectively of the modality of the cue, a slowing-down of responses to the target was observed at increasing temporal intervals. The discrepancy of performance is consistent with the 'over-focused' theory of sensory processing. Published by Elsevier Ltd.
C1 [Occelli, Valeria; Esposito, Gianluca; Venuti, Paola; Zampini, Massimiliano] Univ Trent, Dept Psychol & Cognit Sci, I-38068 Rovereto, TN, Italy.
[Esposito, Gianluca] RIKEN Brain Sci Inst, Kuroda Res Unit Affiliat Social Behav, Wako, Saitama 3510198, Japan.
[Arduino, Giuseppe Maurizio] Ctr Autism & Asperger Syndrome, I-12084 Mondovi, CN, Italy.
[Zampini, Massimiliano] Univ Trent, Ctr Mind Brain Sci, CIMeC, I-38068 Rovereto, TN, Italy.
RP Occelli, V (reprint author), Emory Univ, Sch Med, Dept Neurol, Woodruff Mem Res Bldg,Suite 6209,101 Woodruff Cir, Atlanta, GA 30322 USA.
EM valeria.occelli@gmail.com; gesposito@brain.riken.jp;
paola.venuti@unitn.it; arduino81@hotmail.com;
massimiliano.zampini@unitn.it
RI Esposito, Gianluca/B-1374-2012; Esposito, Gianluca/K-9353-2013
OI Esposito, Gianluca/0000-0002-9442-0254; Esposito,
Gianluca/0000-0002-9442-0254
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NR 56
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD APR
PY 2013
VL 7
IS 4
BP 517
EP 525
DI 10.1016/j.rasd.2012.12.003
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 152OA
UT WOS:000319539800003
ER
PT J
AU Schenning, H
Knight, V
Spooner, F
AF Schenning, Heather
Knight, Victoria
Spooner, Fred
TI Effects of structured inquiry and graphic organizers on social studies
comprehension by students with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Moderate and severe disabilities; Moderate disability; Severe
disability; Access to general curriculum; Social studies
ID SIGNIFICANT COGNITIVE DISABILITIES; SEVERE DEVELOPMENTAL-DISABILITIES;
GENERAL CURRICULUM; INSTRUCTION; CHILDREN; STANDARDS; HAPPENS; SCIENCE;
SHIFTS; FOCUS
AB In social studies, students learn about society and the culture in which they live, current and historical events, people from different backgrounds, and how to develop skills for participating in a democratic system. As people with disabilities are members of our society, participation in social studies content is an important component of their knowledge. Despite the potential benefits of learning social studies content, there is limited investigation in this area for individuals with autism spectrum disorders (ASD). In this study, three middle school students with autism spectrum disorders (ASD) who participated in alternate assessment standards testing based on alternate achievement standards (AA-AAS) learned social studies content (geographic relationships, historical perspectives, economics and development, and government and active citizenship) via structured inquiry and explicit instruction. Results from the single-case multiple probe across participants design suggest a functional relation between the implementation of structured inquiry using explicit instruction and student comprehension of social studies content. In addition, students were able to generalize to "real-world" applications. Future ;research and implications for practices are discussed. (C) 2012 Elsevier Ltd. All rights reserved.
C1 [Schenning, Heather] Charlotte Mecklenburg Sch, Alexander Graham Middle Sch, Charlotte, NC USA.
[Knight, Victoria] Univ Kentucky, Dept Special Educ & Rehabil Counseling, Coll Educ, Lexington, KY 40506 USA.
[Spooner, Fred] Univ N Carolina, Charlotte, NC 28223 USA.
RP Knight, V (reprint author), Univ Kentucky, Dept Special Educ & Rehabil Counseling, Coll Educ, 229 Taylor Educ Bldg, Lexington, KY 40506 USA.
EM v.knight@uky.edu
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NR 41
TC 4
Z9 4
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD APR
PY 2013
VL 7
IS 4
BP 526
EP 540
DI 10.1016/j.rasd.2012.12.007
PG 15
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 152OA
UT WOS:000319539800004
ER
PT J
AU Hassan, TH
Abdelrahman, HM
Fattah, NRA
El-Masry, NM
Hashim, HM
El-Gerby, KM
Fattah, NRA
AF Hassan, Tamer H.
Abdelrahman, Hadeel M.
Fattah, Nelly R. Abdel
El-Masry, Nagda M.
Hashim, Haitham M.
El-Gerby, Khaled M.
Fattah, Nermin R. Abdel
TI Blood and brain glutamate levels in children with autistic disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Blood glutamate; Brain glutamate; Autism
ID GLUTAMATE-RECEPTOR-6 GENE; CEREBELLAR CORTICES; CEREBROSPINAL-FLUID;
ASSOCIATION; ACID; PARIETAL; SPECTROSCOPY; DYSFUNCTION; INDUCTION;
LINKAGE
AB Despite of the great efforts that move forward to clarify the pathophysiologic mechanisms in autism, the cause of this disorder, however, remains largely unknown. There is an increasing body of literature concerning neurochemical contributions to the pathophysiology of autism. We aimed to determine blood and brain levels of glutamate in children with autistic disorder and to correlate between them. The study included 10 children with autism and 10 age- and sex-matched healthy controls. Blood glutamate levels were measured using high performance liquid chromatography technique. Brain glutamate levels were measured using proton magnetic resonance spectroscopy. The mean blood and brain glutamate levels were significantly higher in patients than controls (p < 0.001). There was highly significant positive correlation between blood glutamate level and brain glutamate levels in the four tested brain regions (p < 0.001). Glutamate plays an important role in the pathogenesis of autism. Further larger studies are required to support our findings. (C) 2012 Elsevier Ltd. All rights reserved.
C1 [Hassan, Tamer H.; Abdelrahman, Hadeel M.] Zagazig Univ, Fac Med, Dept Pediat, Zagazig, Egypt.
[Fattah, Nelly R. Abdel; El-Masry, Nagda M.; Hashim, Haitham M.] Zagazig Univ, Fac Med, Dept Psychiat, Zagazig, Egypt.
[El-Gerby, Khaled M.] Zagazig Univ, Fac Med, Dept Radiodiag, Zagazig, Egypt.
[Fattah, Nermin R. Abdel] Zagazig Univ, Fac Med, Dept Med Biochem, Zagazig, Egypt.
RP Hashim, HM (reprint author), Zagazig Univ, Fac Med, Dept Psychiat, Zagazig, Egypt.
EM aboukhedry@yahoo.com
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Shuang M, 2004, AM J MED GENET B, V131B, P48, DOI 10.1002/ajmg.b.30025
Vargas DL, 2005, ANN NEUROL, V57, P67, DOI 10.1002/ana.20315
Williams DL, 2007, NEUROIMAG CLIN N AM, V17, P495, DOI 10.1016/j.nic.2007.07.007
NR 41
TC 2
Z9 2
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD APR
PY 2013
VL 7
IS 4
BP 541
EP 548
DI 10.1016/j.rasd.2012.12.005
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 152OA
UT WOS:000319539800005
ER
PT J
AU Pouw, LBC
Rieffe, C
Stockmann, L
Gadow, KD
AF Pouw, Lucinda B. C.
Rieffe, Carolien
Stockmann, Lex
Gadow, Kenneth D.
TI The link between emotion regulation, social functioning, and depression
in boys with ASD
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Depression; Emotion regulation; Coping; Victimization
ID AUTISM SPECTRUM DISORDERS; CHILDHOOD DEPRESSION; PEER VICTIMIZATION;
BULLYING BEHAVIOR; PARENT-REPORT; CHILDREN; ADOLESCENTS; FRIENDSHIP;
PSYCHOPATHOLOGY; INDIVIDUALS
AB Purpose: Symptoms of depression are common in children and adolescents with an autism spectrum disorder (ASD), but information about underlying developmental factors is limited. Depression is often linked to aspects of emotional functioning such as coping strategies, but in children with ASD difficulties with social interactions are also a likely contributor to depressive symptoms.
Methodology: We examined several aspects of emotional coping (approach, avoidant, maladaptive) and social functioning (victimization, negative friendship interactions) and their relation to depression symptoms in children with ASD (N=63) and typically developing (TD) peers (N=57). Children completed a battery of self-report questionnaires.
Results: Less approach and avoidant, but more maladaptive coping strategies, and poor social functioning were uniquely associated with more symptoms of depression in children with ASD. Only less approach and more maladaptive coping were uniquely associated with depression severity in TO boys.
Conclusions: Unlike TD boys, boys with ASD who report using avoidant strategies to deal with stressful situations report fewer symptoms of depression, suggesting that this may be an adaptive emotion regulation strategy. However, understanding the role of over-arousal in this process, inferences about long-term effects of this strategy, its causality and direction of effects will require additional research. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Pouw, Lucinda B. C.; Rieffe, Carolien] Leiden Univ, NL-2300 RB Leiden, Netherlands.
[Rieffe, Carolien] Dutch Fdn Deaf & Hard Hearing Child, Amsterdam, Netherlands.
[Stockmann, Lex] Rivierduinen, Ctr Autism, Leiden, Netherlands.
[Gadow, Kenneth D.] SUNY Stony Brook, Dept Psychiat & Behav Sci, Stony Brook, NY 11794 USA.
RP Rieffe, C (reprint author), Leiden Univ, POB 9555, NL-2300 RB Leiden, Netherlands.
EM crieffe@fsw.leidenuniv.nl
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NR 42
TC 9
Z9 9
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD APR
PY 2013
VL 7
IS 4
BP 549
EP 556
DI 10.1016/j.rasd.2013.01.002
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 152OA
UT WOS:000319539800006
ER
PT J
AU Merwin, RM
Moskovich, AA
Wagner, HR
Ritschel, LA
Craighead, LW
Zucker, NL
AF Merwin, Rhonda M.
Moskovich, Ashley A.
Wagner, H. Ryan
Ritschel, Lorie A.
Craighead, Linda W.
Zucker, Nancy L.
TI Emotion regulation difficulties in anorexia nervosa: Relationship to
self-perceived sensory sensitivity
SO COGNITION & EMOTION
LA English
DT Article
DE Emotion regulation; Sensory sensitivity; Sensation; Anorexia nervosa;
Acceptance
ID EATING-DISORDER EXAMINATION; AUTISM SPECTRUM DISORDERS; INTEROCEPTIVE
AWARENESS; MODEL; PSYCHOPATHOLOGY; QUESTIONNAIRE; RECOGNITION;
ACCEPTANCE; AMENORRHEA; INTERVIEW
AB Changes in sensation (e.g., prickly skin) are crucial constituents of emotional experience, and the intensity of perceived changes has been linked to emotional intensity and dysregulation. The current study examined the relationship between sensory sensitivity and emotion regulation among adults with anorexia nervosa (AN), a disorder characterised by disturbance in the experience of the body. Twenty-one individuals with AN, 20 individuals with AN who were weightrestored, and 23 typical controls completed self-report measures of sensory sensitivity and emotion regulation. AN participants reported heightened sensory sensitivity and greater difficulty regulating emotions relative to controls. Self-perceived sensory sensitivity was associated with greater emotion dysregulation. Weight-restored AN participants reported greater ability to regulate emotions than their currently underweight counterparts, despite heightened sensitivity. Findings suggest that hypersensitivity may be a persisting feature in AN, and that weight restoration may involve improved ability to cope with sensation.
C1 [Merwin, Rhonda M.; Moskovich, Ashley A.; Wagner, H. Ryan; Zucker, Nancy L.] Duke Univ, Med Ctr, Durham, NC 27710 USA.
[Ritschel, Lorie A.] Emory Univ, Med Ctr, Atlanta, GA 30322 USA.
[Craighead, Linda W.] Emory Univ, Dept Psychol, Atlanta, GA 30322 USA.
RP Zucker, NL (reprint author), Duke Univ, Med Ctr, DUMC Box 3842, Durham, NC 27710 USA.
EM zucke001@mc.duke.edu
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NR 36
TC 3
Z9 3
PU PSYCHOLOGY PRESS
PI HOVE
PA 27 CHURCH RD, HOVE BN3 2FA, EAST SUSSEX, ENGLAND
SN 0269-9931
J9 COGNITION EMOTION
JI Cogn. Emot.
PD APR 1
PY 2013
VL 27
IS 3
BP 441
EP 452
DI 10.1080/02699931.2012.719003
PG 12
WC Psychology, Experimental
SC Psychology
GA 146OV
UT WOS:000319101300005
PM 22963392
ER
PT J
AU Tavil, YZ
Karasu, N
AF Tavil, Yusuf Ziya
Karasu, Necdet
TI Parent Training Studies: A Review and Meta-Analysis
SO EGITIM VE BILIM-EDUCATION AND SCIENCE
LA Turkish
DT Article
DE Parent training; meta-analysis; review
ID DEVELOPMENTAL-DISABILITIES; MENTAL-RETARDATION; TEACHING PARENTS;
DOMESTIC SKILLS; SELF-CARE; CHILDREN; AUTISM; INDIVIDUALS; INSTRUCTION;
TEACHERS
AB Parent training is one of the most important support types for the education of individuals with disabilities. Disability does not only affect the life of an individual with disability negatively but also his/her own family members. Therefore, training family members in how to deal with the problems they face is of utmost importance. This study examined the research studies in this area to determine on what dependent and independent variables were aimed in the studies, also effect-size calculations were completed to determine the effectiveness of independent variables used by the researchers. Eight studies were included in this study. The results indicated the effectiveness of the methods which were used as independent variables. Small amount of research reports also indicated to need of more work in this area.
C1 [Tavil, Yusuf Ziya; Karasu, Necdet] Gazi Univ, Ankara, Turkey.
RP Tavil, YZ (reprint author), Gazi Univ, Ankara, Turkey.
EM ytavil@gazi.edu.tr; necdetkarasu@gazi.edu.tr
CR Akkok F., 1984, THESIS ANKARA U ANKA
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Cohen J., 1988, STAT POWER ANAL BEHA, V2nd
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NR 32
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 APR
PY 2013
VL 38
IS 168
BP 85
EP 95
PG 11
WC Education & Educational Research
SC Education & Educational Research
GA 141RG
UT WOS:000318743600007
ER
PT J
AU McGuinness, TM
Johnson, K
AF McGuinness, Teena M.
Johnson, Karmie
TI DSM-5 Changes in the Diagnosis of Autism Spectrum Disorder
SO JOURNAL OF PSYCHOSOCIAL NURSING AND MENTAL HEALTH SERVICES
LA English
DT Article
AB The long-awaited fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) is about to be published. The changes in the criteria for diagnosis of autism spectrum disorder are of particular interest to psychiatric nurses. This article describes the changes and the new criteria. Implications for patients and nurses, both positive and negative, are also discussed.
C1 [McGuinness, Teena M.; Johnson, Karmie] Univ Alabama Birmingham, Sch Nursing, Birmingham, AL 35294 USA.
RP McGuinness, TM (reprint author), Univ Alabama Birmingham, Sch Nursing, NB 205,1530 3rd Ave South, Birmingham, AL 35294 USA.
EM tmcg@uab.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th
[Anonymous], 2012, PROPOSED DSM 5 CRITE
Carey B., 2008, NY TIMES
Falco M., 2012, PSYCHIAT ASS APPROVE
Gibbs V, 2012, J AUTISM DEV DISORD, V42, P1750, DOI 10.1007/s10803-012-1560-6
McPartland JC, 2012, J AM ACAD CHILD PSY, V51, P368, DOI 10.1016/j.jaac.2012.01.007
Ronald A, 2010, BEHAV GENET, V40, P31, DOI 10.1007/s10519-009-9308-6
Rosenberg RE, 2009, ARCH PEDIAT ADOL MED, V163, P907, DOI 10.1001/archpediatrics.2009.98
Swedo S. E., 2012, UPDATE DSM 5 RECOMME
NR 10
TC 1
Z9 1
PU SLACK INC
PI THOROFARE
PA 6900 GROVE RD, THOROFARE, NJ 08086 USA
SN 0279-3695
J9 J PSYCHOSOC NURS MEN
JI J. Psychosoc. Nurs. Ment. Health Serv.
PD APR
PY 2013
VL 51
IS 4
BP 17
EP 19
DI 10.3928/02793695-20130220-01
PG 3
WC Nursing
SC Nursing
GA 143WL
UT WOS:000318899500009
PM 23445685
ER
PT J
AU Karmiloff-Smith, A
AF Karmiloff-Smith, Annette
TI From constructivism to neuroconstructivism: Did we still fall into the
foundationalism/encodingism trap? Commentary on "Stepping off the
pendulum: Why only an action-based approach can transcend the
nativist-empiricist debate" by J. Allen and M. Bickhard
SO COGNITIVE DEVELOPMENT
LA English
DT Editorial Material
ID DEVELOPMENTAL PROSOPAGNOSIA; CORE KNOWLEDGE; BRAIN; PERSPECTIVE;
EPIGENESIS; SYSTEMS; AUTISM; HUMANS; CORTEX
C1 [Karmiloff-Smith, Annette] Univ London, Birkbeck Ctr Brain & Cognit Dev, London WC1E 7HU, England.
RP Karmiloff-Smith, A (reprint author), Birkbeck Ctr Brain & Cognit Dev, 32 Torrington Sq, London WC1E 7HX, England.
EM a.karmiloff-smith@bbk.ac.uk
CR Barkow J. H., 1992, ADAPTED MIND EVOLUTI
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Landau B., 2006, COGNITION, V100, P1
Mills DL, 1997, DEV NEUROPSYCHOL, V13, P397
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Piaget J., 1966, BIOL CONNAISSANCE
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Tyler L. K., 2009, CEREB CORTEX, V20, P352
van der Lely HKJ, 2005, TRENDS COGN SCI, V9, P53, DOI 10.1016/j.tics.2004.12.002
NR 38
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0885-2014
J9 COGNITIVE DEV
JI Cogn. Dev.
PD APR-JUN
PY 2013
VL 28
IS 2
SI SI
BP 154
EP 158
DI 10.1016/j.cogdev.2013.01.007
PG 5
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA 136TH
UT WOS:000318385800007
ER
PT J
AU Ezewudo, M
Zwick, ME
AF Ezewudo, Matthew
Zwick, Michael E.
TI Evaluating Rare Variants in Complex Disorders Using Next-Generation
Sequencing
SO CURRENT PSYCHIATRY REPORTS
LA English
DT Article
DE Human genetics; Genomics; Genetic architecture; Complex traits;
Next-generation sequencing; Targeted enrichment; Single nucleotide
variants; SNVs; Single nucleotide polymorphisms; SNPs; Structural
variation; Copy number variants; CNVs; Complex neuropsychiatric
disorders; Schizophrenia; Autism; Genetic disorders; Psychiatry
ID COPY-NUMBER VARIATION; DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS;
GENOME-WIDE ASSOCIATION; GENETIC-VARIATION; MISSING HERITABILITY;
STRUCTURAL VARIATION; COMMON VARIANTS; HUMAN-DISEASE; HUMAN EXOMES
AB Determining the genetic architecture of liability for complex neuropsychiatric disorders like autism spectrum disorders and schizophrenia poses a tremendous challenge for contemporary biomedical research. Here we discuss how genetic studies first tested, and rejected, the hypothesis that common variants with large effects account for the prevalence of these disorders. We then explore how the discovery of structural variation has contributed to our understanding of the etiology of these disorders. The rise of fast and inexpensive oligonucleotide sequencing and methods of targeted enrichment and their influence on the search for rare genetic variation contributing to complex neuropsychiatric disorders is the next focus of our article. Finally, we consider the technical challenges and future prospects for the use of next-generation sequencing to reveal the complex genetic architecture of complex neuropsychiatric disorders in both research and the clinical settings.
C1 [Ezewudo, Matthew; Zwick, Michael E.] Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA.
RP Zwick, ME (reprint author), Emory Univ, Dept Human Genet, Whitehead Biomed Res Bldg,Suite 301, Atlanta, GA 30322 USA.
EM mezewud@emory.edu; mzwick@emory.edu
FU National Institutes of Health/National Heart, Lung, and Blood Institute
FX M. Ezewudo: none; M. E. Zwick: grant from National Institutes of
Health/National Heart, Lung, and Blood Institute, and consultant to
Henry M. Jackson Foundation.
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NR 91
TC 2
Z9 2
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1523-3812
J9 CURR PSYCHIAT REP
JI Curr. Psychiatry Rep.
PD APR
PY 2013
VL 15
IS 4
AR 349
DI 10.1007/s11920-013-0349-4
PG 7
WC Psychiatry
SC Psychiatry
GA 141XY
UT WOS:000318761100001
PM 23435969
ER
PT J
AU Charbonneau, G
Bertone, A
Lepore, F
Nassim, M
Lassonde, M
Mottron, L
Collignon, O
AF Charbonneau, Genevieve
Bertone, Armando
Lepore, Franco
Nassim, Marouane
Lassonde, Maryse
Mottron, Laurent
Collignon, Olivier
TI Multilevel alterations in the processing of audio-visual emotion
expressions in autism spectrum disorders
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Autism spectrum disorder; Multisensory; Emotion expressions; Audition;
Vision
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; FUSIFORM
FACE AREA; ASPERGERS-SYNDROME; FACIAL EXPRESSIONS; MULTISENSORY
INTEGRATION; NEURAL CIRCUITRY; CHILDS APPRAISAL; DECISION-MAKING;
SOCIAL-BEHAVIOR
AB The abilities to recognize and integrate emotions from another person's facial and vocal expressions are fundamental cognitive skills involved in the effective regulation of social interactions. Deficits in such abilities have been suggested as a possible source for certain atypical social behaviors manifested by persons with autism spectrum disorders (ASD). In the present study, we assessed the recognition and integration of emotional expressions in ASD using a validated set of ecological stimuli comprised of dynamic visual and auditory (non-verbal) vocal clips. Autistic participants and typically developing controls (TD) were asked to discriminate between clips depicting expressions of disgust and fear presented either visually, auditorily or audio-visually. The group of autistic participants was less efficient to discriminate emotional expressions across all conditions (unimodal and bimodal). Moreover, they necessitated a higher signal-to-noise ratio for the discrimination of visual or auditory presentations of disgust versus fear expressions. These results suggest an altered sensitivity to emotion expressions in this population that is not modality-specific. In addition, the group of autistic participants benefited from exposure to bimodal information to a lesser extent than did the TD group, indicative of a decreased multisensory gain in this population. These results are the first to compellingly demonstrate joint alterations for both the perception and the integration of multisensory emotion expressions in ASD. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Charbonneau, Genevieve; Lepore, Franco; Lassonde, Maryse; Collignon, Olivier] Univ Montreal, Dept Psychol, Ctr Rech Neuropsychol & Cognit CERNEC, Montreal, PQ H3C 3J7, Canada.
[Bertone, Armando] McGill Univ, Dept Educ & Counseling Psychol, Sch Appl Child Psychol, Montreal, PQ H3A 1Y2, Canada.
[Bertone, Armando; Nassim, Marouane; Mottron, Laurent] Hop Riviere Des Prairies, CETEDUM, Montreal, PQ H1E 1A4, Canada.
[Lepore, Franco; Lassonde, Maryse; Collignon, Olivier] Ctr Rech CHU St Justine, Montreal, PQ H3T 1C5, Canada.
[Collignon, Olivier] Univ Trent, CIMeC, Ctr Mind Brain Sci, Mattarello, TN, Italy.
RP Collignon, O (reprint author), Univ Trent, CIMeC, Ctr Mind Brain Sci, Via Regale 101, Mattarello, TN, Italy.
EM genevieve.charbonneau.1@umontreal.ca; armando.bertone@mcgill.ca;
franco.lepore@umontreal.ca; marouane.nassim.hrdp@ssss.gouv.qc.ca;
maryse.lassonde@umontreal.ca; mottronl@istar.ca;
olivier.collignon@unitn.it
FU Canada Research Chair Program; Canadian Institutes of Health Research;
Natural Sciences and Engineering Research Council of Canada; research
centre of the University Hospital Sainte-Justine
FX This research was supported in part by the Canada Research Chair Program
(ML, FL), the Canadian Institutes of Health Research (AB, ML, FL, GC),
the Natural Sciences and Engineering Research Council of Canada (ML, FL)
and the research centre of the University Hospital Sainte-Justine (OC).
The authors would like to thank Patricia Jelenic for her help with
participant recruitment and selection.
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NR 136
TC 6
Z9 7
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3932
J9 NEUROPSYCHOLOGIA
JI Neuropsychologia
PD APR
PY 2013
VL 51
IS 5
BP 1002
EP 1010
DI 10.1016/j.neuropsychologia.2013.02.009
PG 9
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA 140QK
UT WOS:000318669800024
PM 23462241
ER
PT J
AU McKeever, BW
AF McKeever, Brooke Weberling
TI News Framing of Autism: Understanding Media Advocacy and the Combating
Autism Act
SO SCIENCE COMMUNICATION
LA English
DT Article
DE autism; content analysis; framing; health policy; media advocacy
ID MOBILIZING INFORMATION; BREAST-CANCER; HEALTH NEWS; COVERAGE;
COMMUNICATION; OBESITY; JOURNALISTS; CONTROVERSY; PREVALENCE; NEWSPAPERS
AB This study explores agenda setting, framing, and the concepts of media advocacy and mobilizing information through content analysis of The New York Times and The Washington Post news coverage of autism from 1996 to 2006, the year the Combating Autism Act was passed. Findings revealed that science frames decreased over time, while policy frames increased. Medical, government, family, and nonprofit sources were most common in news coverage. Solutions were mentioned more frequently than causes; however, mobilizing information was limited. Theoretical implications and practical applications are discussed.
C1 Univ S Carolina, Sch Journalism & Mass Commun, Columbia, SC 29208 USA.
RP McKeever, BW (reprint author), Univ S Carolina, Sch Journalism & Mass Commun, Columbia, SC 29208 USA.
EM brookew@sc.edu
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NR 73
TC 3
Z9 3
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1075-5470
J9 SCI COMMUN
JI Sci. Commun.
PD APR
PY 2013
VL 35
IS 2
BP 213
EP 240
DI 10.1177/1075547012450951
PG 28
WC Communication
SC Communication
GA 142RY
UT WOS:000318816000004
ER
PT J
AU Chen, S
Liu, CC
AF Chen, Su
Liu, Chengchu
TI Ether Glycerophospholipids and Their Potential as Therapeutic Agents
SO CURRENT ORGANIC CHEMISTRY
LA English
DT Article
DE Ether glycerophospholipids; docosahexaenoic acid; molecular nutrition;
Alzheimer's disease; autism; infertility
ID PLATELET-ACTIVATING-FACTOR; AUTISM SPECTRUM DISORDERS; TANDEM
MASS-SPECTROMETRY; BLOOD-BRAIN-BARRIER; ALZHEIMERS-DISEASE;
DOCOSAHEXAENOIC ACID; ELECTROSPRAY-IONIZATION; FATTY-ACID; PLASMALOGEN
DEFICIENCY; INTESTINAL-ABSORPTION
AB Ether glycerophospholipids (GPLs) are a subclass of phospholipids, chemically characterized by the existence of an ether bond within the lipid molecules. Because ether GPLs are membrane structure components, they act as the wide-like resistance to membrane oxidation induced by chemical hypoxia and reactive oxygen species. The abnormal biosynthesis of ether GPLs in humans leads to the decreased supply of the critical lipids to various human cells, resulting in the alteration of the membrane lipid composition. Recent studies demonstrated that the level of docosahexaenoic acid (DHA) - containing ether molecular species of phosphatidylethanolamine (PE) and phosphatidylcholine (PC) in the Alzheimer's brain significantly decreased. On the other hand, the deficiency of DHA and platelet-activating factor in human sperm causes infertility in men. We propose that the supplementation of DHA ether molecular species of GPLs may prevent and treat brain disorders, such as Alzheimer's disease and autism, and infertility. The present review describes (1) procedures for the semi-synthesis of DHA - containing ether molecular species of PC and PE; (2) mass spectrometric methods for structurally identifying the lipids; (3) potential of DHA plasmanycholine species as lipid drugs for preventing and treating brain diseases and infertility; and (4) recommendation of marine oysters, monkfish liver and scallops based seafoods as DHA ether GPLs supplementation for the medical application.
C1 [Chen, Su] CHAINON Neurotrophin Biotechnol Inc, San Antonio, TX 78230 USA.
[Liu, Chengchu] Shanghai Ocean Univ, Coll Food Sci, Shanghai 201306, Peoples R China.
[Liu, Chengchu] Shanghai Engn Res Ctr Aquat Prod Proc & Preservat, Shanghai 201306, Peoples R China.
RP Chen, S (reprint author), CHAINON Neurotrophin Biotechnol Inc, 12436 Vance Jackson Suite 721, San Antonio, TX 78230 USA.
EM su@chainonbio.com
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NR 74
TC 1
Z9 1
PU BENTHAM SCIENCE PUBL LTD
PI SHARJAH
PA EXECUTIVE STE Y-2, PO BOX 7917, SAIF ZONE, 1200 BR SHARJAH, U ARAB
EMIRATES
SN 1385-2728
J9 CURR ORG CHEM
JI Curr. Org. Chem.
PD APR
PY 2013
VL 17
IS 8
BP 802
EP 811
PG 10
WC Chemistry, Organic
SC Chemistry
GA 126WQ
UT WOS:000317653500005
ER
PT J
AU Mestre, TA
Zurowski, M
Fox, SH
AF Mestre, Tiago A.
Zurowski, Mateusz
Fox, Susan H.
TI 5-Hydroxytryptamine 2A receptor antagonists as potential treatment for
psychiatric disorders
SO EXPERT OPINION ON INVESTIGATIONAL DRUGS
LA English
DT Review
DE 5-HT2A receptors; Alzheimer's disease; antagonist; CYR-10; depression;
eplivanserin; glemanserin; insomnia; nelotanserin; Parkinson's disease;
partial agonist; pimavanserin; pruvanserin; schizophrenia; serotonin;
volinanserin
ID OBSESSIVE-COMPULSIVE DISORDER; SEROTONIN 5-HT2A RECEPTOR;
POSITRON-EMISSION-TOMOGRAPHY; MAJOR DEPRESSIVE DISORDER; MESSENGER-RNA
EXPRESSION; GENE PROMOTER POLYMORPHISM; F-18 SETOPERONE PET;
ANOREXIA-NERVOSA; ALZHEIMERS-DISEASE; PARKINSONS-DISEASE
AB Introduction: 5-Hydroxytryptamine 2A receptors (5-HT2A-Rs) are widely expressed in the brain and have been implicated in mood and behavior. Based on the use of atypical antipsychotics in schizophrenia, antagonism of 5-HT2A-Rs initially emerged as a potential intervention capable of reducing the incidence of extrapyramidal symptoms, while exerting an effective antipsychotic action. More recently, highly selective 5-HT2A-R antagonists have been evaluated in the treatment of a wide range of other psychiatric disorders.
Areas covered: The aim of the current review is to present important clinical studies investigating the potential therapeutic effects of 5-HT2A-R antagonists in both primary psychiatric disorders, such as schizophrenia and mood disorders, as well as in psychiatric manifestations of neurodegenerative disorders. We present an overview of 5-HT2A-Rs in normal brain function and the rationale for use in (neuro) psychiatric disease based on significant findings from genetic association studies, neuroimaging data and postmortem studies. The majority of the studies relate to schizophrenia, depression, anxiety, obsessive compulsive disorder and psychosis in Parkinson's disease and Alzheimer's disease. To date, there is sparse literature on 5-HT2A-Rs in Gilles de la burette syndrome, attention deficit hyperactivity disorder, eating disorders and autism spectrum disorders. The authors conclude by reviewing recent clinical trials investigating highly selective 5-HT2A-R antagonists in schizophrenia, psychosis in Parkinson's disease, insomnia and generalized anxiety.
Expert opinion: Despite the potential, to date, 5-HT2A-R antagonists have not made an impact in the management of psychiatric disorders and psychiatric symptoms of neurodegenerative conditions.
C1 [Mestre, Tiago A.; Fox, Susan H.] Univ Toronto, Toronto Western Hosp, Toronto, ON M5T 2S8, Canada.
[Mestre, Tiago A.; Fox, Susan H.] Movement Disorders Ctr, Div Neurol, Toronto, ON, Canada.
[Zurowski, Mateusz] Univ Toronto, Toronto Western Hosp, Dept Psychiat, Toronto, ON M5T 2S8, Canada.
RP Fox, SH (reprint author), Univ Toronto, Toronto Western Hosp, 399 Bathurst St,MCL7-421, Toronto, ON M5T 2S8, Canada.
EM sfox@uhnresearch.ca
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NR 122
TC 5
Z9 6
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1354-3784
J9 EXPERT OPIN INV DRUG
JI Expert Opin. Investig. Drugs
PD APR
PY 2013
VL 22
IS 4
BP 411
EP 421
DI 10.1517/13543784.2013.769957
PG 11
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA 129YF
UT WOS:000317879200002
PM 23409724
ER
PT J
AU Moreno-De-Luca, A
Myers, SM
Challman, TD
Moreno-De-Luca, D
Evans, DW
Ledbetter, DH
AF Moreno-De-Luca, Andres
Myers, Scott M.
Challman, Thomas D.
Moreno-De-Luca, Daniel
Evans, David W.
Ledbetter, David H.
TI Developmental brain dysfunction: revival and expansion of old concepts
based on new genetic evidence
SO LANCET NEUROLOGY
LA English
DT Article
ID DE-NOVO MUTATIONS; COPY NUMBER VARIANT; MENTAL-RETARDATION; CHROMOSOME
1Q21.1; DELETION SYNDROME; YOUNG-CHILDREN; AUTISM; DISORDERS;
MICRODELETION; SCHIZOPHRENIA
AB Neurodevelopmental disorders can be caused by many different genetic abnormalities that are individually rare but collectively common. Specific genetic causes, including certain copy number variants and single-gene mutations, are shared among disorders that are thought to be clinically distinct. This evidence of variability in the clinical manifestations of individual genetic variants and sharing of genetic causes among clinically distinct brain disorders is consistent with the concept of developmental brain dysfunction, a term we use to describe the abnormal brain function underlying a group of neurodevelopmental and neuropsychiatric disorders and to encompass a subset of various clinical diagnoses. Although many pathogenic genetic variants are currently thought to be variably penetrant, we hypothesise that when disorders encompassed by developmental brain dysfunction are considered as a group, the penetrance will approach 100%. The penetrance is also predicted to approach 100% when the phenotype being considered is a specific trait, such as intelligence or autistic-like social impairment, and the trait could be assessed using a continuous, quantitative measure to compare probands with non-carrier family members rather than a qualitative, dichotomous trait and comparing probands with the healthy population.
C1 [Moreno-De-Luca, Andres; Myers, Scott M.; Challman, Thomas D.; Evans, David W.; Ledbetter, David H.] Geisinger Hlth Syst, Autism & Dev Med Inst, Danville, PA 17822 USA.
[Moreno-De-Luca, Andres; Ledbetter, David H.] Geisinger Hlth Syst, Genom Med Inst, Danville, PA 17822 USA.
[Moreno-De-Luca, Andres; Myers, Scott M.; Challman, Thomas D.] Geisinger Hlth Syst, Dept Pediat, Danville, PA 17822 USA.
[Moreno-De-Luca, Andres; Myers, Scott M.; Challman, Thomas D.; Evans, David W.; Ledbetter, David H.] Bucknell Univ, Program Neurosci, Lewisburg, PA 17837 USA.
[Evans, David W.] Bucknell Univ, Dept Psychol, Lewisburg, PA 17837 USA.
[Moreno-De-Luca, Daniel] Yale Univ, Dept Psychiat, New Haven, CT 06520 USA.
RP Ledbetter, DH (reprint author), Geisinger Hlth Syst, Danville, PA 17822 USA.
EM dhledbetter@geisinger.edu
FU National Institutes of Health [MH074090, HD064525]
FX This work was funded in part by grants MH074090 and HD064525 (to DHL)
from the National Institutes of Health.
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NR 76
TC 38
Z9 38
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1474-4422
J9 LANCET NEUROL
JI Lancet Neurol.
PD APR
PY 2013
VL 12
IS 4
BP 406
EP 414
PG 9
WC Clinical Neurology
SC Neurosciences & Neurology
GA 138SZ
UT WOS:000318531600016
PM 23518333
ER
PT J
AU Gregson, RAM
AF Gregson, Robert A. M.
TI Decision Making with Complex Nonlinear Systems: Inference and
Identification in the Context of DS22q11.2
SO NONLINEAR DYNAMICS PSYCHOLOGY AND LIFE SCIENCES
LA English
DT Article
DE gene deletion; cognition; signal detection; Bayes; prediction
ID DELETION SYNDROME; CHILDREN; DYSFUNCTION
AB A rare gene deletion syndrome, that has in its associated phenome some possible cognitive and psychotic features, has been examined with DNA and fMRI for its causal basis within families and its statistical distribution in populations. Identification of its presence without DNA evidence is problematic as the condition is not stationary nor linear in its properties as the carrier grows older. Within a family its distribution is Mendelian, but there are also complications due to its complexity. A combined approach using both signal detection and an extension of Bayes theorem is a possible approach to discriminating between symptoms that have potentially a multi-causal basis, of which 22q11.2 deletion is only one possibility. Two later issues have arisen, one involving possibly at least two genetically different syndromes that result in similar autism in infancy, the other in statistical problems of prediction. Diagnosis of probable early DS 22q11.2 independent deaths as opposed to survival into adulthood can be wrongly thought to be a case of infanticide, and legal disputes have consequently arisen in the U.K., the USA, and Australia.
C1 [Gregson, Robert A. M.] Australian Natl Univ, Canberra, ACT 0200, Australia.
RP Gregson, RAM (reprint author), Australian Natl Univ, Dept Psychol, GPO Box 4, Canberra, ACT 0200, Australia.
EM ramgdd@bigpond.com
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NR 24
TC 0
Z9 0
PU SOC CHAOS THEORY PSYCHOLOGY & LIFE SCIENCES
PI PEWAUKEE
PA W282 N4302 SOMERSET LN, PEWAUKEE, WI 53072 USA
SN 1090-0578
J9 NONLIN DYNAM PSYCHOL
JI Nonlinear Dyn. Psychol. Life Sci.
PD APR
PY 2013
VL 17
IS 2
BP 173
EP 181
PG 9
WC Social Sciences, Mathematical Methods; Psychology, Mathematical
SC Mathematical Methods In Social Sciences; Psychology
GA 135XR
UT WOS:000318324500001
PM 23517604
ER
PT J
AU John, A
Tatard-Leitman, VM
Suh, J
Billingslea, EN
Roberts, TP
Siegel, SJ
AF Saunders, John A.
Tatard-Leitman, Valerie M.
Suh, Jimmy
Billingslea, Eddie N.
Roberts, Timothy P.
Siegel, Steven J.
TI Knockout of NMDA Receptors in Parvalbumin Interneurons Recreates
Autism-Like Phenotypes
SO AUTISM RESEARCH
LA English
DT Article
DE autism; electrophysiology; endophenotype; animal models; NMDA receptor 1
knockout
ID MICE MUS-MUSCULUS; MOUSE MODELS; NEURODEVELOPMENTAL DISORDERS;
ULTRASONIC VOCALIZATIONS; NEURAL SYNCHRONIZATION; SCHIZOPHRENIA;
OSCILLATIONS; DEFICITS; IMPAIRMENT; POTENTIALS
AB Autism is a disabling neurodevelopmental disorder characterized by social deficits, language impairment, and repetitive behaviors with few effective treatments. New evidence suggests that autism has reliable electrophysiological endophenotypes and that these measures may be caused by n-methyl-d-aspartic acid receptor (NMDAR) disruption on parvalbumin (PV)-containing interneurons. These findings could be used to create new translational biomarkers. Recent developments have allowed for cell-type selective knockout of NMDARs in order to examine the perturbations caused by disrupting specific circuits. This study examines several electrophysiological and behavioral measures disrupted in autism using a PV-selective reduction in NMDA R1 subunit. Mouse electroencephalograph (EEG) was recorded in response to auditory stimuli. Event-related potential (ERP) component amplitude and latency analysis, social testing, and premating ultrasonic vocalizations (USVs) recordings were performed. Correlations were examined between the ERP latency and behavioral measures. The N1 ERP latency was delayed, sociability was reduced, and mating USVs were impaired in PV-selective NMDA Receptor 1 Knockout (NR1 KO) as compared with wild-type mice. There was a significant correlation between N1 latency and sociability but not between N1 latency and premating USV power or T-maze performance. The increases in N1 latency, impaired sociability, and reduced vocalizations in PV-selective NR1 KO mice mimic similar changes found in autism. Electrophysiological changes correlate to reduced sociability, indicating that the local circuit mechanisms controlling N1 latency may be utilized in social function. Therefore, we propose that behavioral and electrophysiological alterations in PV-selective NR1 KO mice may serve as a useful model for therapeutic development in autism. Autism Res 2013, 6: 6977. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Saunders, John A.; Tatard-Leitman, Valerie M.; Suh, Jimmy; Billingslea, Eddie N.; Siegel, Steven J.] Univ Penn, Dept Psychiat, Translat Neurosci Program, Philadelphia, PA 19104 USA.
[Saunders, John A.; Roberts, Timothy P.; Siegel, Steven J.] Univ Penn, Bioengn Grad Grp, Philadelphia, PA 19104 USA.
[Roberts, Timothy P.] Childrens Hosp Philadelphia, Dept Radiol, Philadelphia, PA 19104 USA.
RP Siegel, SJ (reprint author), Univ Penn, Dept Psychiat, Translat Res Labs, 125 S 31st St, Philadelphia, PA 19104 USA.
EM siegels@upenn.edu
FU NIMH [5R01DA023210-02]; Oberkircher Family; Eli Lilly; AstraZeneca;
NuPathe; Pfizer; Merck; Sanofi; Wyeth
FX Grant sponsor: NIMH; Grant number: 5R01DA023210-02 (SJS).Grant sponsor:
Oberkircher Family; Grant number: Oberkircher Family Endowed Chair in
Pediatric Radiology (TPR).The study was supported by 5R01DA023210-02
(SJS). Dr. Roberts thanks the Oberkircher Family for the Oberkircher
Family Endowed Chair in Pediatric Radiology. Steven Siegel reports
having received grant support from Eli Lilly, AstraZeneca, NuPathe, and
Pfizer that is unrelated to the content of this paper and consulting
payments from NuPathe, Merck, Sanofi, and Wyeth that are unrelated to
this work. Dr. Roberts is a consultant for prism clinical imaging. All
other authors report no biomedical financial interests or potential
conflicts of interest.
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NR 34
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
J9 AUTISM RES
JI Autism Res.
PD APR
PY 2013
VL 6
IS 2
BP 69
EP 77
DI 10.1002/aur.1264
PG 9
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 133DL
UT WOS:000318117500001
ER
PT J
AU Prigge, MD
Bigler, ED
Fletcher, PT
Zielinski, BA
Ravichandran, C
Anderson, J
Froehlich, A
Abildskov, T
Papadopolous, E
Maasberg, K
Nielsen, JA
Alexander, AL
Lange, N
Lainhart, J
AF Prigge, Molly D.
Bigler, Erin D.
Fletcher, P. Thomas
Zielinski, Brandon A.
Ravichandran, Caitlin
Anderson, Jeffrey
Froehlich, Alyson
Abildskov, Tracy
Papadopolous, Evangelia
Maasberg, Kathryn
Nielsen, Jared A.
Alexander, Andrew L.
Lange, Nicholas
Lainhart, Janet
TI Longitudinal Heschl's Gyrus Growth During Childhood and Adolescence in
Typical Development and Autism
SO AUTISM RESEARCH
LA English
DT Article
DE autism; Heschl's gyrus; longitudinal development; MRI
ID PRIMARY AUDITORY-CORTEX; HUMAN CEREBRAL-CORTEX; NON-SPEECH SOUNDS;
SPECTRUM DISORDERS; LANGUAGE IMPAIRMENT; VOLUME MEASUREMENT; PLANUM
TEMPORALE; MISMATCH FIELD; CHILDREN; BRAIN
AB Heightened auditory sensitivity and atypical auditory processing are common in autism. Functional studies suggest abnormal neural response and hemispheric activation to auditory stimuli, yet the neurodevelopment underlying atypical auditory function in autism is unknown. In this study, we model longitudinal volumetric growth of Heschl's gyrus gray matter and white matter during childhood and adolescence in 40 individuals with autism and 17 typically developing participants. Up to three time points of magnetic resonance imaging data, collected on average every 2.5 years, were examined from individuals 312 years of age at the time of their first scan. Consistent with previous cross-sectional studies, no group differences were found in Heschl's gyrus gray matter volume or asymmetry. However, reduced longitudinal gray matter volumetric growth was found in the right Heschl's gyrus in autism. Reduced longitudinal white matter growth in the left hemisphere was found in the right-handed autism participants. Atypical Heschl's gyrus white matter volumetric growth was found bilaterally in the autism individuals with a history of delayed onset of spoken language. Heightened auditory sensitivity, obtained from the Sensory Profile, was associated with reduced volumetric gray matter growth in the right hemisphere. Our longitudinal analyses revealed dynamic gray and white matter changes in Heschl's gyrus throughout childhood and adolescence in both typical development and autism. Autism Res 2013, 6: 7890. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Prigge, Molly D.; Froehlich, Alyson; Nielsen, Jared A.] Univ Utah, Dept Psychiat, Sch Med, Salt Lake City, UT 84108 USA.
[Bigler, Erin D.; Fletcher, P. Thomas; Anderson, Jeffrey] Univ Utah, Inst Brain, Salt Lake City, UT 84108 USA.
[Bigler, Erin D.; Abildskov, Tracy] Brigham Young Univ, Dept Psychol, Provo, UT 84602 USA.
[Bigler, Erin D.; Abildskov, Tracy] Brigham Young Univ, Ctr Neurosci, Provo, UT 84602 USA.
[Fletcher, P. Thomas] Univ Utah, Sch Comp, Salt Lake City, UT 84108 USA.
[Fletcher, P. Thomas] Univ Utah, Sci Comp & Imaging Inst, Salt Lake City, UT 84108 USA.
[Zielinski, Brandon A.] Univ Utah, Dept Pediat, Salt Lake City, UT 84108 USA.
[Zielinski, Brandon A.] Univ Utah, Dept Neurol, Salt Lake City, UT 84108 USA.
[Ravichandran, Caitlin; Lange, Nicholas] Harvard Univ, Sch Med, Dept Psychiat, Boston, MA 02115 USA.
[Anderson, Jeffrey; Nielsen, Jared A.] Univ Utah, Interdept Program Neurosci, Salt Lake City, UT 84108 USA.
[Anderson, Jeffrey] Univ Utah, Dept Neuroradiol, Salt Lake City, UT 84108 USA.
[Anderson, Jeffrey] Univ Utah, Dept Bioengn, Salt Lake City, UT 84108 USA.
[Papadopolous, Evangelia] Univ Utah, Dept Phys, Salt Lake City, UT 84108 USA.
[Maasberg, Kathryn] Univ Utah, Sch Med, Salt Lake City, UT 84108 USA.
[Alexander, Andrew L.; Lainhart, Janet] Univ Wisconsin, Waisman Lab Brain Imaging & Behav, Madison, WI USA.
[Alexander, Andrew L.] Univ Wisconsin, Dept Med Phys, Madison, WI 53706 USA.
[Alexander, Andrew L.] Univ Wisconsin, Dept Psychiat, Madison, WI 53706 USA.
[Lange, Nicholas] Harvard Univ, Sch Med, Dept Biostat, Boston, MA USA.
[Lange, Nicholas] McLean Hosp, Neurostat Lab, Belmont, MA 02178 USA.
[Lainhart, Janet] Univ Wisconsin, Dept Psychiat, Div Child & Adolescent Psychiat, Madison, WI 53706 USA.
RP Prigge, MD (reprint author), Univ Utah, Dept Psychiat, 650 Komas Dr Suite 206, Salt Lake City, UT 84108 USA.
EM molly.dubray@hsc.utah.edu
FU NRSA Predoctoral Fellowship NIH NIDCD [F31 DC010143]; NIH NIDCD [T32
DC008553]; NIH [RO1 NIMH MH080826, RO1 MH084795]
FX We sincerely thank the participants and families for their time and
participation. This research was supported by NRSA Predoctoral
Fellowship NIH NIDCD F31 DC010143 (MDP), NIH NIDCD T32 DC008553, NIH RO1
NIMH MH080826, and NIH RO1 MH084795. Past data collection was supported
in part by NICHD/NIDCD U19 HD035476, part of the CPEA. We thank Annahir
Cariello and Jason Cooperrider for their assistance, and we acknowledge
the contributions of William McMahon, Judith Miller, Michael Johnson,
Jubel Morgan, and Jeffrey Lu in early stages of this work. The content
of this project is solely the responsibility of the authors and does not
necessarily represent the official views of the National Institutes of
Mental Health, NICHD, NIDCD, or National Institutes of Health.
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NR 72
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
J9 AUTISM RES
JI Autism Res.
PD APR
PY 2013
VL 6
IS 2
BP 78
EP 90
DI 10.1002/aur.1265
PG 13
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 133DL
UT WOS:000318117500002
PM 23436773
ER
PT J
AU Miller, M
Bales, KL
Taylor, SL
Yoon, J
Hostetler, CM
Carter, CS
Solomon, M
AF Miller, Meghan
Bales, Karen L.
Taylor, Sandra L.
Yoon, Jong
Hostetler, Caroline M.
Carter, Cameron S.
Solomon, Marjorie
TI Oxytocin and Vasopressin in Children and Adolescents With Autism
Spectrum Disorders: Sex Differences and Associations With Symptoms
SO AUTISM RESEARCH
LA English
DT Article
DE neuropeptides; oxytocin; vasopressin; autism; sex differences;
repetitive behaviors; anxiety
ID OBSESSIVE-COMPULSIVE DISORDER; PLASMA ARGININE-VASOPRESSIN; RECEPTOR
GENE OXTR; MALE PRAIRIE VOLES; SOCIAL-BEHAVIOR; CEREBROSPINAL-FLUID;
HUMAN HYPOTHALAMUS; MAJOR DEPRESSION; KNOCKOUT MICE; HUMANS
AB There has been intensified interest in the neuropeptides oxytocin (OT) and arginine vasopressin (AVP) in autism spectrum disorders (ASD) given their role in affiliative and social behavior in animals, positive results of treatment studies using OT, and findings that genetic polymorphisms in the AVPOT pathway are present in individuals with ASD. Nearly all such studies in humans have focused only on males. With this preliminary study, we provide basic and novel information on the involvement of OT and AVP in autism, with an investigation of blood plasma levels of these neuropeptides in 75 preadolescent and adolescent girls and boys ages 818: 40 with high-functioning ASD (19 girls, 21 boys) and 35 typically developing children (16 girls, 19 boys). We related neuropeptide levels to social, language, repetitive behavior, and internalizing symptom measures in these individuals. There were significant gender effects: Girls showed higher levels of OT, while boys had significantly higher levels of AVP. There were no significant effects of diagnosis on OT or AVP. Higher OT values were associated with greater anxiety in all girls, and with better pragmatic language in all boys and girls. AVP levels were positively associated with restricted and repetitive behaviors in girls with ASD but negatively (nonsignificantly) associated with these behaviors in boys with ASD. Our results challenge the prevailing view that plasma OT levels are lower in individuals with ASD, and suggest that there are distinct and sexually dimorphic mechanisms of action for OT and AVP underlying anxiety and repetitive behaviors. Autism Res 2013, 6: 91102. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Miller, Meghan] Univ Calif Berkeley, Dept Psychol, Berkeley, CA USA.
[Miller, Meghan; Solomon, Marjorie] Univ Calif Davis, MIND Inst, Sacramento, CA 95817 USA.
[Bales, Karen L.; Hostetler, Caroline M.] Univ Calif Davis, Dept Psychol, Davis, CA USA.
[Taylor, Sandra L.] Univ Calif Davis, Sch Med, Clin & Translat Sci Ctr, Sacramento, CA 95817 USA.
[Yoon, Jong; Carter, Cameron S.; Solomon, Marjorie] Univ Calif Davis, Imaging Res Ctr, Sacramento, CA 95817 USA.
RP Solomon, M (reprint author), Univ Calif Davis, MIND Inst, 2825 50th St, Sacramento, CA 95817 USA.
EM marjorie.solomon@ucdmc.ucdavis.edu
FU NIMH [K08 MH074967-01]; BIRCWH award [K12 HD051958]
FX This work was supported by K08 MH074967-01 from NIMH and a BIRCWH award,
(K12 HD051958), to Marjorie Solomon. Statistical support was made
possible by UL1 RR024246 from the National Center for Research
Resources, a component of the NIH and NIH Roadmap for Medical Research.
The authors report no conflicts of interest.
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NR 85
TC 17
Z9 17
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
J9 AUTISM RES
JI Autism Res.
PD APR
PY 2013
VL 6
IS 2
BP 91
EP 102
DI 10.1002/aur.1270
PG 12
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 133DL
UT WOS:000318117500003
PM 23413037
ER
PT J
AU Yoder, PJ
Oller, DK
Richards, JA
Gray, S
Gilkerson, J
AF Yoder, Paul J.
Oller, D. Kimbrough
Richards, Jeffrey A.
Gray, Sharmistha
Gilkerson, Jill
TI Stability and Validity of an Automated Measure of Vocal Development From
Day-Long Samples in Children With and Without Autism Spectrum Disorder
SO AUTISM RESEARCH
LA English
DT Article
DE infants; pediatrics; developmental psychology; clinical psychology
ID LANGUAGE
AB Individual difference measures of vocal development may eventually aid our understanding of the variability in spoken language acquisition in children with autism spectrum disorder (ASD). Large samples of child vocalizations may be needed to maximize the stability of vocal development estimates. Day-long vocal samples can now be automatically analyzed based on acoustic characteristics of speech likeness identified in theoretically driven and empirically cross-validated quantitative models of typical vocal development. This report indicates that a single day-long recording can produce a stable estimate for a measure of vocal development that is highly related to expressive spoken language in a group of young children with ASD and in a group that is typically developing. Autism Res 2013, 6: 103107. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Yoder, Paul J.] Vanderbilt Univ, Dept Special Educ, Nashville, TN 37203 USA.
[Oller, D. Kimbrough] Univ Memphis, Sch Commun Sci & Disorders, Memphis, TN 38152 USA.
[Oller, D. Kimbrough] Konrad Lorenz Inst Evolut & Cognit Res, Altenberg, Austria.
[Richards, Jeffrey A.; Gilkerson, Jill] LENA Res Fdn, Boulder, CO USA.
[Gilkerson, Jill] Univ Colorado, Boulder, CO 80309 USA.
RP Yoder, PJ (reprint author), Vanderbilt Univ, 228 Peabody Box, Nashville, TN 37203 USA.
EM paul.yoder@vanderbilt.edu
FU NIDCD [R01 DC011027]; NICHD [P30HD15052]; Plough Foundation
FX This research was supported by NIDCD R01 DC011027 to D. K. Oller, and
NICHD Grant P30HD15052 to the Vanderbilt Kennedy Center for Research on
Human Development, and the Plough Foundation. The LENA Research
Foundation generously provided the data for this article. We are
grateful to the families who participated in the original LENA research.
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NR 12
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
J9 AUTISM RES
JI Autism Res.
PD APR
PY 2013
VL 6
IS 2
BP 103
EP 107
DI 10.1002/aur.1271
PG 5
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 133DL
UT WOS:000318117500004
PM 23436778
ER
PT J
AU Grubb, MA
Behrmann, M
Egan, R
Minshew, NJ
Carrasco, M
Heeger, DJ
AF Grubb, Michael A.
Behrmann, Marlene
Egan, Ryan
Minshew, Nancy J.
Carrasco, Marisa
Heeger, David J.
TI Endogenous Spatial Attention: Evidence for Intact Functioning in Adults
With Autism
SO AUTISM RESEARCH
LA English
DT Article
DE attention; spatial attention; endogenous attention; psychophysics;
adults; autism; autism spectrum disorders; ASD
ID INCREASES CONTRAST SENSITIVITY; HUMAN VISUAL-CORTEX; COVERT ATTENTION;
SELECTIVE ATTENTION; SUSTAINED ATTENTION; RESPONSE FUNCTIONS; ZOOM LENS;
DEFICITS; PERFORMANCE; CHILDREN
AB Rapid manipulation of the attention field (i.e. the location and spread of visual spatial attention) is a critical aspect of human cognition, and previous research on spatial attention in individuals with autism spectrum disorders (ASD) has produced inconsistent results. In a series of three psychophysical experiments, we evaluated claims in the literature that individuals with ASD exhibit a deficit in voluntarily controlling the deployment and size of the spatial attention field. We measured the spatial distribution of performance accuracies and reaction times to quantify the sizes and locations of the attention field, with and without spatial uncertainty (i.e. the lack of predictability concerning the spatial position of the upcoming stimulus). We found that high-functioning adults with autism exhibited slower reaction times overall with spatial uncertainty, but the effects of attention on performance accuracies and reaction times were indistinguishable between individuals with autism and typically developing individuals in all three experiments. These results provide evidence of intact endogenous spatial attention function in high-functioning adults with ASD, suggesting that atypical endogenous attention cannot be a latent characteristic of autism in general. Autism Res 2013, 6: 108118. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Grubb, Michael A.; Carrasco, Marisa; Heeger, David J.] NYU, Dept Psychol, New York, NY 10003 USA.
[Behrmann, Marlene; Egan, Ryan] Carnegie Mellon Univ, Dept Psychol, Pittsburgh, PA 15213 USA.
[Minshew, Nancy J.] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA USA.
[Minshew, Nancy J.] Univ Pittsburgh, Sch Med, Dept Neurol, Pittsburgh, PA 15261 USA.
[Carrasco, Marisa; Heeger, David J.] NYU, Ctr Neural Sci, New York, NY 10003 USA.
RP Heeger, DJ (reprint author), NYU, Dept Psychol, Washington Pl,8th Floor, New York, NY 10003 USA.
EM david.heeger@nyu.edu
FU NIH [R01-EY019693]; SFARI [177638]; ACE [HD055748]; Autism Speaks
Predoctoral Fellowship [7831]
FX This research was supported by NIH Grant R01-EY019693 to D. H. and M.
C., by SFARI Grant 177638 to D. H. and M. B., by ACE Grant HD055748 to
N.M., and by Autism Speaks Predoctoral Fellowship 7831 to M.G.
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NR 48
TC 4
Z9 4
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
J9 AUTISM RES
JI Autism Res.
PD APR
PY 2013
VL 6
IS 2
BP 108
EP 118
DI 10.1002/aur.1269
PG 11
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 133DL
UT WOS:000318117500005
PM 23427075
ER
PT J
AU Baruth, JM
Wall, CA
Patterson, MC
Port, JD
AF Baruth, Joshua M.
Wall, Christopher A.
Patterson, Marc C.
Port, John D.
TI Proton Magnetic Resonance Spectroscopy as a Probe into the
Pathophysiology of Autism Spectrum Disorders (ASD): A Review
SO AUTISM RESEARCH
LA English
DT Review
DE Autism Spectrum Disorders; proton magnetic resonance spectroscopy;
N-acetylaspartate; glutamate; myo-inositol
ID N-ACETYL ASPARTATE; WHITE-MATTER; HUMAN BRAIN; ASPERGER-SYNDROME; MR
SPECTROSCOPY; LOCALIZED PROTON; DOUBLE-BLIND; MITOCHONDRIAL DYSFUNCTION;
MINICOLUMNAR PATHOLOGY; CEREBELLAR CORTICES
AB Proton magnetic resonance spectroscopy (1H-MRS) is a safe, noninvasive way of quantifying in vivo biochemical and metabolite concentration levels in individuals with Autism Spectrum Disorders (ASD). Findings to date suggest ASD is associated with widespread reduction in N-acetylaspartate (NAA), creatine plus phosphocreatine (Cr), choline-containing compounds (Cho), myo-inositol (mI), and glutamate plus glutamine plus gamma-Aminobutyric Acid (Glx); however, variable findings, and even substantial increases, are not uncommon depending on the study and/or region-of-interest. Widespread reduction of NAA, Cr, Cho, mI, and Glx in ASD likely reflects impaired neuronal function and/or metabolism related to abnormal neurodevelopmental processes. Future studies should attempt to relate 1H-MRS findings to histological findings and control for variability in subject age and functioning level; this would assist in evaluating the relationship between 1H-MRS metabolic levels and neuronal and glial cell densities, as well as neurodevelopmental process associated with ASD. Furthermore, more longitudinal 1H-MRS studies are needed in both control and ASD subjects to attempt to standardize metabolite levels across different developmental periods in well-defined endophenotypes. This will provide for a standard rubric for which metabolic aberrations (as well as treatment responses) can be measured. With higher magnetic field strengths and spectral-editing techniques capable of quantifying less-concentrated metabolites, 1H-MRS will continue to be an important tool in ASD research. Autism Res 2013, 6: 119133. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Baruth, Joshua M.; Wall, Christopher A.; Port, John D.] Mayo Clin, Dept Psychiat & Psychol, Rochester, MN 55905 USA.
[Patterson, Marc C.] Mayo Clin, Childrens Ctr, Dept Neurol, Rochester, MN 55905 USA.
[Patterson, Marc C.] Mayo Clin, Childrens Ctr, Dept Pediat & Adolescent Med, Rochester, MN 55905 USA.
[Patterson, Marc C.] Mayo Clin, Childrens Ctr, Dept Med Genet, Rochester, MN 55905 USA.
[Port, John D.] Mayo Clin, Dept Radiol, Rochester, MN 55905 USA.
RP Baruth, JM (reprint author), Mayo Clin, Dept Psychiat & Psychol, 200 1st St SW, Rochester, MN 55905 USA.
EM jmbaru01@louisville.edu
RI Port, John/I-7940-2014
OI Port, John/0000-0002-4237-7776
FU Mayo Clinic Department of Psychiatry and Psychology
FX The authors have no conflicts of interest to declare. We would like to
thank the Mayo Clinic Department of Psychiatry and Psychology, and
especially Mark Frye, MD and Peter Jensen, MD for support of this
project.
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NR 118
TC 7
Z9 7
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
J9 AUTISM RES
JI Autism Res.
PD APR
PY 2013
VL 6
IS 2
BP 119
EP 133
DI 10.1002/aur.1273
PG 15
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 133DL
UT WOS:000318117500006
PM 23436782
ER
PT J
AU Sasson, NJ
Lam, KSL
Childress, D
Parlier, M
Daniels, JL
Piven, J
AF Sasson, Noah J.
Lam, Kristen S. L.
Childress, Debra
Parlier, Morgan
Daniels, Julie L.
Piven, Joseph
TI The Broad Autism Phenotype Questionnaire: Prevalence and Diagnostic
Classification
SO AUTISM RESEARCH
LA English
DT Article
DE autism; Broad Autism Phenotype; assessment; prevalence; genetics
ID EXPLORATORY FACTOR-ANALYSIS; MULTIPLE-INCIDENCE; COGNITIVE PHENOTYPE;
GENERAL-POPULATION; FAMILY-HISTORY; PARENTS; CHILDREN; TRAITS;
PERSONALITY; DISORDER
AB The Broad Autism Phenotype Questionnaire (BAPQ) was administered to a large community-based sample of biological parents of children with autism (PCAs) and comparison parents (CPs) (n=1,692). Exploratory factor analysis and internal consistency parameters confirmed a robust three-factor structure of the BAPQ, corresponding to the proposed aloof, pragmatic language and rigidity subscales. Based upon the distribution of Broad Autism Phenotype (BAP) features in the general population, new normative cutoff values for BAPQ subscales were established that provide increased specificity relative to those previously reported, and thus enhance the utility of the BAPQ for diagnostically classifying the BAP. These cutoffs were also used to estimate prevalence of the BAP and its three components, with rates ranging between 1423% for PCAs and between 59% for CPs. Analysis of patterns of BAP characteristics within family members revealed that BAP features were more likely to co-occur in PCAs relative to CPs. Collectively, these findings extend the utility of the BAPQ and provide additional evidence that it is an efficient and reliable tool for disaggregating the heterogeneity of autism through the identification of meaningful subgroups of parents. Autism Res 2013, 6: 134143. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Sasson, Noah J.] Univ Texas Dallas, Sch Behav & Brain Sci, Richardson, TX 78050 USA.
[Lam, Kristen S. L.; Childress, Debra; Parlier, Morgan; Daniels, Julie L.; Piven, Joseph] Univ N Carolina, Sch Med, Carolina Inst Dev Disabil, Chapel Hill, NC USA.
[Daniels, Julie L.] Univ N Carolina, Dept Epidemiol, Chapel Hill, NC USA.
RP Sasson, NJ (reprint author), Univ Texas Dallas, Sch Behav & Brain Sci GR41, Richardson, TX 78050 USA.
EM nsasson@utdallas.edu; jpiven@med.unc.edu
FU National Institutes of Health, IDDRC Participant Registry Core, P30
[HD003110]; Centers for Disease Control and Prevention [U10 DD000184-06,
U50/CCU422345]; Research Registry Core of the Eunice Kennedy Shriver
Intellectual and Developmental Disabilities Research Center at
UNC-Chapel Hill [HD003110]
FX Grant sponsor: National Institutes of Health, IDDRC Participant Registry
Core, P30 # HD003110; Centers for Disease Control and Prevention, Grant
numbers: U10 DD000184-06, U50/CCU422345.We would like to thank Renee
Clark and the Research Registry Core of the Eunice Kennedy Shriver
Intellectual and Developmental Disabilities Research Center at
UNC-Chapel Hill (Grant Number HD003110), as well as all the individuals
who participated in this research. This work was further supported by
the Centers for Disease Control and Prevention (Grant Numbers: U10
DD000184-06, U50/CCU422345). The findings and conclusions in this report
are those of the authors and do not necessarily represent the official
position of the Centers for Disease Control and Prevention.
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NR 37
TC 9
Z9 10
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
J9 AUTISM RES
JI Autism Res.
PD APR
PY 2013
VL 6
IS 2
BP 134
EP 143
DI 10.1002/aur.1272
PG 10
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA 133DL
UT WOS:000318117500007
PM 23427091
ER
PT J
AU Ronconi, L
Gori, S
Ruffino, M
Molteni, M
Facoetti, A
AF Ronconi, Luca
Gori, Simone
Ruffino, Milena
Molteni, Massimo
Facoetti, Andrea
TI Zoom-out attentional impairment in children with autism spectrum
disorder
SO CORTEX
LA English
DT Article
DE Spatial attention; Attentional scaling; Local processing; Pervasive
developmental disorder; Social cognition
ID EVENT-RELATED POTENTIALS; CONCURRENT TMS-FMRI; VISUAL-ATTENTION;
PHYSIOLOGICAL CORRELATE; SELECTIVE ATTENTION; BIOLOGICAL MOTION; SPATIAL
ATTENTION; COGNITIVE-STYLE; BRAIN; PERCEPTION
AB Autism spectrum disorder (ASD) has long been associated with an inability to experience wholes without full attention to the constituent parts. A zoom-out attentional dysfunction might be partially responsible for this perceptual integration deficit in ASD. In the present study, the efficiency of attentional focusing mechanisms was investigated in children affected by ASD. We measured response latencies to a visual target onset displayed at three eccentricities from the fixation. Attentional resources were focused (zoom-in) or distributed (zoom-out) in the visual field presenting a small (containing only the nearest target eccentricity) or large (containing also the farthest target eccentricity) cue, 100 or 800 msec, before the target onset. Typically developing children, at the short cue-target interval, showed a gradient effect (i.e., latencies are slower at the farthest eccentricity) in the small focusing cue, but not in the large focusing cue condition. These results indicate an efficient zoom-in and zoom-out attentional mechanism. In contrast, children with ASD showed a gradient effect also in the large focusing cue condition, suggesting a specific zoom-out attentional impairment. In addition, the ASD group showed an atypical gradient effect at the long cue-target interval only in the small cue condition, suggesting a prolonged zoom-in and sluggish zoom-out attentional mechanism. This abnormal attentional focusing - probably linked to a dysfunctional top-down feedback from fronto-parietal network to the early visual areas - could contribute to the atypical visual perception associated to individuals with ASD which, in turn, could have consequences in their social-communicative development. (C) 2012 Elsevier Ltd. All rights reserved.
C1 [Ronconi, Luca; Gori, Simone; Facoetti, Andrea] Univ Padua, Dipartimento Psicol Gen, Dev & Cognit Neurosci Lab, I-35131 Padua, Italy.
[Gori, Simone; Ruffino, Milena; Molteni, Massimo; Facoetti, Andrea] Ist Sci E Medea Bosisio Parini, Unita Neuropsicol Sviluppo, Lecce, Italy.
RP Facoetti, A (reprint author), Univ Padua, Dipartimento Psicol Gen, Via Venezia 8, I-35131 Padua, Italy.
EM andreafacoetti@unipd.it
RI Facoetti, Andrea/C-2876-2009
FU University of Padua
FX This work was supported by a grant from University of Padua ("Progetto
di Ateneo 2009 and 2011" to A.F. and "Assegni di Ricerca 2009 and 2011"
to S.G.). The contributions of staff members of "E. Medea" Scientific
Institute as well as of children and their families are gratefully
acknowledged. We thank Laura Zampini and Barbara Urbani for their help
in recruitment. and clinical characterization of participants. Finally,
we thank the Editor Mike Anderson and the two anonymous Reviewers for
their valuable comments.
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NR 68
TC 14
Z9 14
PU ELSEVIER MASSON
PI MILANO
PA VIA PALEOCAPA 7, 20121 MILANO, ITALY
SN 0010-9452
J9 CORTEX
JI Cortex
PD APR
PY 2013
VL 49
IS 4
BP 1025
EP 1033
DI 10.1016/j.cortex.2012.03.005
PG 9
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 131MH
UT WOS:000317997300012
PM 22503282
ER
PT J
AU Samsel, A
Seneff, S
AF Samsel, Anthony
Seneff, Stephanie
TI Glyphosate's Suppression of Cytochrome P450 Enzymes and Amino Acid
Biosynthesis by the Gut Microbiome: Pathways to Modern Diseases
SO ENTROPY
LA English
DT Review
DE glyphosate; cytochrome P450; eNOS; obesity; cardiovascular disease;
cancer; colitis; shikimate pathway; gut microbiome; tryptophan;
tyrosine; phenylalanine; methionine; serotonin; Alzheimer's disease;
Parkinson's disease; autism; depression
ID PHENYLALANINE AMMONIA-LYASE; NITRIC-OXIDE SYNTHASE;
INFLAMMATORY-BOWEL-DISEASE; INDOLEAMINE 2,3-DIOXYGENASE ACTIVITY;
PERCUTANEOUS CORONARY INTERVENTION; CHOLESTEROL SULFATE SYNTHESIS;
GLYCINE-MAX SEEDLINGS; ALZHEIMERS-DISEASE; UNITED-STATES;
CLOSTRIDIUM-DIFFICILE
AB Glyphosate, the active ingredient in Roundup (R), is the most popular herbicide used worldwide. The industry asserts it is minimally toxic to humans, but here we argue otherwise. Residues are found in the main foods of the Western diet, comprised primarily of sugar, corn, soy and wheat. Glyphosate's inhibition of cytochrome P450 (CYP) enzymes is an overlooked component of its toxicity to mammals. CYP enzymes play crucial roles in biology, one of which is to detoxify xenobiotics. Thus, glyphosate enhances the damaging effects of other food borne chemical residues and environmental toxins. Negative impact on the body is insidious and manifests slowly over time as inflammation damages cellular systems throughout the body. Here, we show how interference with CYP enzymes acts synergistically with disruption of the biosynthesis of aromatic amino acids by gut bacteria, as well as impairment in serum sulfate transport. Consequences are most of the diseases and conditions associated with a Western diet, which include gastrointestinal disorders, obesity, diabetes, heart disease, depression, autism, infertility, cancer and Alzheimer's disease. We explain the documented effects of glyphosate and its ability to induce disease, and we show that glyphosate is the "textbook example" of exogenous semiotic entropy: the disruption of homeostasis by environmental toxins.
C1 [Seneff, Stephanie] MIT, Comp Sci & Artificial Intelligence Lab, Cambridge, MA 02139 USA.
RP Seneff, S (reprint author), MIT, Comp Sci & Artificial Intelligence Lab, Cambridge, MA 02139 USA.
EM anthonysamsel@acoustictracks.net; Seneff@csail.mit.edu
FU Quanta Computers, Taipei, Taiwan, under the auspices of the Qmulus
Project
FX This work was funded in part by Quanta Computers, Taipei, Taiwan, under
the auspices of the Qmulus Project. We thank three reviewers whose
valuable comments led to a much improved version of this paper.
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NR 286
TC 12
Z9 17
PU MDPI AG
PI BASEL
PA POSTFACH, CH-4005 BASEL, SWITZERLAND
SN 1099-4300
J9 ENTROPY-SWITZ
JI Entropy
PD APR
PY 2013
VL 15
IS 4
BP 1416
EP 1463
DI 10.3390/e15041416
PG 48
WC Physics, Multidisciplinary
SC Physics
GA 131YE
UT WOS:000318033900017
ER
PT J
AU Fu, C
Ess, KC
AF Fu, Cary
Ess, Kevin C.
TI Conditional and domain-specific inactivation of the Tsc2 gene in neural
progenitor cells
SO GENESIS
LA English
DT Article
DE cortical development; mTORC1; mTORC2; rapamycin; tuberous sclerosis
complex
ID TUBEROUS SCLEROSIS COMPLEX; MOUSE MODEL; IN-VIVO; PHOSPHORYLATION;
MUTATIONS; RAPAMYCIN; HAMARTIN; MTOR; MICE; EXPRESSION
AB Tuberous sclerosis complex (TSC) is a genetic disease characterized by multiorgan benign tumors as well as neurological manifestations. Epilepsy and autism are two of the more prevalent neurological complications and are usually severe. TSC is caused by mutations in either the TSC1 (encodes hamartin) or the TSC2 (encodes tuberin) genes with TSC2 mutations being associated with worse outcomes. Tuberin contains a highly conserved GTPase-activating protein (GAP) domain that indirectly inhibits mammalian target of rapamycin complex 1 (mTORC1). mTORC1 dysregulation is currently thought to cause much of the pathogenesis in TSC but mTORC1-independent mechanisms may also contribute. We generated a novel conditional allele of Tsc2 by flanking exons 36 and 37 with loxP sites. Mice homozygous for this knock-in Tsc2 allele are viable and fertile with normal appearing growth and development. Exposure to Cre recombinase then creates an in-frame deletion involving critical residues of the GAP domain. Homozygous conditional mutant mice generated using Emx1Cre have increased cortical mTORC1 signaling, severe developmental brain anomalies, seizures, and die within 3 weeks. We found that the normal levels of the mutant Tsc2 mRNA, though GAP-deficient tuberin protein, appear unstable and rapidly degraded. This novel animal model will allow further study of tuberin function including the requirement of the GAP domain for protein stability. genesis 51:284292. (c) 2013 Wiley Periodicals, Inc.
C1 [Fu, Cary; Ess, Kevin C.] Vanderbilt Univ, Div Child Neurol & Epilepsy, Sch Med, Vanderbilt Kennedy Ctr,Vanderbilt Brain Inst, Nashville, TN 37232 USA.
[Fu, Cary; Ess, Kevin C.] Vanderbilt Univ, Dept Neurol, Sch Med, Vanderbilt Kennedy Ctr,Vanderbilt Brain Inst, Nashville, TN 37232 USA.
RP Ess, KC (reprint author), Vanderbilt Univ, Dept Neurol, Sch Med, 465 21st Ave South,6158C MRB3, Nashville, TN 37232 USA.
EM kevin.ess@vanderbilt.edu
FU Tuberous Sclerosis Alliance; NINDS, NIH [1R01 NS078289]; Vanderbilt
Center for Molecular Neuroscience
FX Contract grant sponsor: The Tuberous Sclerosis Alliance; Contract grant
sponsor: NINDS, NIH, Contract grant number: 1R01 NS078289; Contract
grant sponsor: Vanderbilt Center for Molecular Neuroscience
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NR 34
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1526-954X
J9 GENESIS
JI Genesis
PD APR
PY 2013
VL 51
IS 4
BP 284
EP 292
DI 10.1002/dvg.22377
PG 9
WC Developmental Biology; Genetics & Heredity
SC Developmental Biology; Genetics & Heredity
GA 132NF
UT WOS:000318074900007
PM 23359422
ER
PT J
AU Harfterkamp, M
Buitelaar, JK
Minderaa, RB
van de Loo-Neus, G
van der Gaag, RJ
Hoekstra, PJ
AF Harfterkamp, Myriam
Buitelaar, Jan K.
Minderaa, Ruud B.
van de Loo-Neus, Gigi
van der Gaag, Rutger-Jan
Hoekstra, Pieter J.
TI Long-Term Treatment with Atomoxetine for Attention-Deficit/Hyperactivity
Disorder Symptoms in Children and Adolescents with Autism Spectrum
Disorder: An Open-Label Extension Study
SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY
LA English
DT Article
ID ONCE-DAILY ATOMOXETINE; DEFICIT HYPERACTIVITY DISORDER; DOUBLE-BLIND;
PLACEBO; ADHD
AB Objective: The efficacy and tolerability of long-term treatment with atomoxetine for symptoms of attention-deficit/hyperactivity disorder (ADHD) in children with autism spectrum disorder (ASD) has not been established.
Methods: In this study, 88 patients 6-17 years of age, with ADHD and ASD, were treated with 1.2 mg/kg/day atomoxetine for 20 weeks as follow-up of an 8 week double-blind placebo-controlled period. Primary endpoint was the ADHD Rating Scale (ADHD-RS).
Results: After 8 weeks of initial treatment, the mean total, inattention, and hyperactivity-impulsivity ADHD-RS further decreased significantly from 34.9 to 27.0 for the total ADHD-RS, from 18.3 to 14.5 for the ADHD-RS inattention subscale, and from 16.5 to 12.6 for the hyperactivity-impulsivity subscale. Adverse events were mild and tended to diminish over time during continued treatment, especially regarding nausea and fatigue. There were no serious adverse events.
Conclusions: The results of the present analysis suggest that continued treatment with atomoxetine up to 28 weeks further improve ADHD symptoms in children and adolescents with ASD, while adverse events tend to subside. Future studies investigating the long-term efficacy of atomoxetine in children and adolescents with ASD should be randomized and placebo controlled. This study has been registered in ClinicalTrials.gov (www.clinicaltrials.gov) under registration number NCT00380692.
C1 [Harfterkamp, Myriam; Minderaa, Ruud B.; Hoekstra, Pieter J.] Univ Groningen, Univ Med Ctr Groningen, Dept Psychiat, Groningen, Netherlands.
[Buitelaar, Jan K.; van de Loo-Neus, Gigi; van der Gaag, Rutger-Jan] Karakter Child & Adolescent Psychiat Univ Ctr, Nijmegen, Netherlands.
[Buitelaar, Jan K.] Radboud Univ Nijmegen, Med Ctr, Dept Cognit Neurosci, NL-6525 ED Nijmegen, Netherlands.
RP Harfterkamp, M (reprint author), Univ Med Ctr Groningen, Dept Psychiat, POB 660, NL-9700 AR Groningen, Netherlands.
EM m.harfterkamp@accare.nl
RI Gaag, R.J./H-8030-2014; Hoekstra, Pieter/O-4396-2014
FU Eli Lilly and company; European Society for Child and Adolescent
Psychiatry (ESCAP) in Helsinki, Finland; ZonMw; EU; National Institute
of Mental Health
FX This study was funded by Eli Lilly and company.The paper has been
presented at the International Conference sponsored by the European
Society for Child and Adolescent Psychiatry (ESCAP) in Helsinki,
Finland, June, 2011.Myriam Harfterkamp has accepted invitations for
congress travels from Eli Lilly. Ruud B. Minderaa was advisor for Eli
Lilly. Jan K. Buitelaar has been a consultant to and member of advisory
board of, and/or speaker for Janssen Cilag B. V., Eli Lilly, BristolMyer
Squibb, Organon/Shering Plough, UCB, Shire, Medice, Servier, and
Servier. Gigi van de Loo-Neus has received honoraria for presentations
or advice over the past 2 years from the pharmaceutical companies Eli
Lilly, UCB Pharma B. V., and Eurocept B. V. Rutger-Jan van der Gaag has
no financial disclosures. Pieter J. Hoekstra has received funding
through ZonMw, EU Seventh Framework Program, and National Institute of
Mental Health as well as honoraria for presentations or advice from the
pharmaceutical companies Desitin, Shire, and Eli Lilly.
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NR 16
TC 6
Z9 6
PU MARY ANN LIEBERT INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1044-5463
J9 J CHILD ADOL PSYCHOP
JI J. Child Adolesc. Psychopharmacol.
PD APR
PY 2013
VL 23
IS 3
BP 194
EP 199
DI 10.1089/cap.2012.0012
PG 6
WC Pediatrics; Pharmacology & Pharmacy; Psychiatry
SC Pediatrics; Pharmacology & Pharmacy; Psychiatry
GA 130ZU
UT WOS:000317960700006
PM 23578015
ER
PT J
AU Ghanizadeh, A
AF Ghanizadeh, A.
TI Parents reported oral sensory sensitivity processing and food preference
in ADHD
SO JOURNAL OF PSYCHIATRIC AND MENTAL HEALTH NURSING
LA English
DT Article
DE ADHD; adolescents; children; parent; picky eater; responsivity
ID AUTISM SPECTRUM DISORDERS; PICKY EATERS; CHILDREN; SELECTIVITY;
SUBTYPES; SAMPLE
AB Accessible summary center dot Oral sensory overresponsivity is frequently seen in attention deficit hyperactivity disorder (ADHD) children with oppositional behaviours. center dot Attention deficit hyperactivity disorder children with oppositional behaviours are more likely to adhere to the same foods. center dot Food preferences in ADHD children co-morbid with oppositional behaviour are more common than in those without oppositional behaviours. center dot Children with both ADHD and oppositional behaviours are less likely to try new food and have limited repertoire of foods. Behavioural and food recommendation for children with ADHD should consider their co-morbid behaviours. Abstract Oral sensory processing in children with attention deficit hyperactivity disorder (ADHD) is an area with limited research. Oppositional defiant disorder (ODD) and separation anxiety disorder (SAD) symptoms usually co-occur with ADHD. This study investigates the association of oral sensory processing problems with ODD and SAD symptoms in children with ADHD. The parents of 189 children with ADHD completed Oral Over- and Underresponsivity Behaviors Inventory reporting oral overresponsivity (OR) and underresponsivity (UR) of their children. Only ODD score predicted OR scale score. None of ADHD severity, anxiety score, age and gender predicted OR score. UR scale score was only predicted by SAD and inattention scores. ODD score and hyperactivity/impulsivity score did not predict UR score. The ODD behaviour in children with ADHD needs to be evaluated and managed more extensively and it should include oral sensory occupational therapy. Future studies should extend this research to children with ADHD and obesity and food reward system.
C1 [Ghanizadeh, A.] Shiraz Univ Med Sci, Hafez Hosp, Res Ctr Psychiat & Behav Sci, Shiraz, Iran.
[Ghanizadeh, A.] Shiraz Univ Med Sci, Hafez Hosp, Dept Psychiat, Shiraz, Iran.
RP Ghanizadeh, A (reprint author), Shiraz Univ Med Sci, Hafez Hosp, Dept Psychiat, Res Ctr Psychiat & Behav Sci, Shiraz, Iran.
EM ghanizad@sina.tums.ac.ir
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Rodriguez A, 2010, PEDIATRICS, V125, pE340, DOI 10.1542/peds.2009-1165
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Smith AA, 2005, NUTRITION, V21, P14, DOI 10.1016/j.nut.2004.09.004
Stice E, 2009, PHYSIOL BEHAV, V97, P551, DOI 10.1016/j.physbeh.2009.03.020
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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 1351-0126
J9 J PSYCHIATR MENT HLT
JI J. Psychiatr. Ment. Health Nurs.
PD APR
PY 2013
VL 20
IS 5
BP 426
EP 432
DI 10.1111/j.1365-2850.2011.01830.x
PG 7
WC Nursing; Psychiatry
SC Nursing; Psychiatry
GA 134RC
UT WOS:000318230900009
PM 22074155
ER
PT J
AU Chlebowski, C
Robins, DL
Barton, ML
Fein, D
AF Chlebowski, Colby
Robins, Diana L.
Barton, Marianne L.
Fein, Deborah
TI Large-Scale Use of the Modified Checklist for Autism in Low-Risk
Toddlers
SO PEDIATRICS
LA English
DT Article
DE autism; M-CHAT; screening; toddlers; diagnosis
ID SPECTRUM DISORDERS; YOUNG-CHILDREN; FOLLOW-UP; DIAGNOSIS; AGE;
PREDICTORS
AB OBJECTIVE: The purpose of the study was to examine use of the Modified Checklist for Autism in Toddlers (M-CHAT) as an autism-specific screening instrument in a large, geographically diverse pediatrics-based sample.
METHODS: The M-CHAT and the M-CHAT Follow-Up (M-CHAT/F) were used to screen 18 989 toddlers at pediatric well-child visits in 2 US geographic regions. Pediatricians directly referred children to ascertain potential missed screening cases. Screen-positive children received the M-CHAT/F; children who continued to screen positive after the M-CHAT/F received a diagnostic evaluation.
RESULTS: Results indicated that 54% of children who screened positive on the M-CHAT and M-CHAT/F presented with an autism spectrum disorder (ASD), and 98% presented with clinically significant developmental concerns warranting intervention. An M-CHAT total score cutoff of >= 3 identifies nearly all screen-positive cases, and for ease of scoring the use of only the M-CHAT total score cutoff is recommended. An M-CHAT total score of 7 serves as an appropriate clinical cutoff, and providers can bypass the M-CHAT/F and refer immediately to evaluation and intervention if a child obtains a score of >= 7.
CONCLUSIONS: This study provides empirical support for the utility of population screening for ASD with the use of the M-CHAT in a primary care setting. Results suggest that the M-CHAT continues to be an effective screening instrument for ASD when the 2-step screening process is used. The M-CHAT is widely used at pediatric offices, and this study provides updated results to facilitate use and scoring of the M-CHAT by clinical providers.
C1 [Chlebowski, Colby] Univ Calif San Diego, Dept Psychiat, San Diego, CA 92103 USA.
[Robins, Diana L.] Georgia State Univ, Dept Psychol, Atlanta, GA 30303 USA.
[Barton, Marianne L.; Fein, Deborah] Univ Connecticut, Dept Psychol, Storrs, CT USA.
[Fein, Deborah] Univ Connecticut, Dept Pediat, Storrs, CT USA.
RP Chlebowski, C (reprint author), 3020 Childrens Way,MC 5033, San Diego, CA 92103 USA.
EM cchlebowski@ucsd.edu
FU National Institutes of Health (NIH) [R01 HD039961]; National Institute
of Mental Health [F31 MH12550-1-2]; Maternal and Child Health Bureau
[R40 MC00270]; US Department of Education student; Centers for Disease
Control and Prevention-Georgia State University seed grant in the social
and behavioral sciences; National Association for Autism Research
FX Supported by National Institutes of Health (NIH) grant R01 HD039961,
National Institute of Mental Health grant F31 MH12550-1-2, Maternal and
Child Health Bureau grant R40 MC00270, a US Department of Education
student-initiated research grant, a Centers for Disease Control and
Prevention-Georgia State University seed grant in the social and
behavioral sciences, and a grant from the National Association for
Autism Research. Funded by the National Institutes of Health (NIH).
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
CDC, 2012, MMWR SURVEILL SUMM, V61, P1
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NR 25
TC 18
Z9 19
PU AMER ACAD PEDIATRICS
PI ELK GROVE VILLAGE
PA 141 NORTH-WEST POINT BLVD,, ELK GROVE VILLAGE, IL 60007-1098 USA
SN 0031-4005
J9 PEDIATRICS
JI Pediatrics
PD APR
PY 2013
VL 131
IS 4
BP E1121
EP E1127
DI 10.1542/peds.2012-1525
PG 7
WC Pediatrics
SC Pediatrics
GA 135EF
UT WOS:000318269500010
PM 23530174
ER
PT J
AU Wodka, EL
Mathy, P
Kalb, L
AF Wodka, Ericka L.
Mathy, Pamela
Kalb, Luther
TI Predictors of Phrase and Fluent Speech in Children With Autism and
Severe Language Delay
SO PEDIATRICS
LA English
DT Article
DE communication; nonverbal; autism spectrum disorders; social; repetitive
ID EARLY ADULT LIFE; SPECTRUM DISORDERS; FOLLOW-UP; REPETITIVE BEHAVIORS;
DIAGNOSTIC INTERVIEW; OUTCOMES; INDIVIDUALS; TODDLERS
AB OBJECTIVE: To examine the prevalence and predictors of language attainment in children with autism spectrum disorder (ASD) and severe language delay. We hypothesized greater autism symptomatology and lower intelligence among children who do not attain phrase/fluent speech, with nonverbal intelligence and social engagement emerging as the strongest predictors of outcome.
METHODS: Data used for the current study were from 535 children with ASD who were at least 8 years of age (mean = 11.6 years, SD = 2.73 years) and who did not acquire phrase speech before age 4. Logistic and Cox proportionate hazards regression analyses examined predictors of phrase and fluent speech attainment and age at acquisition, respectively.
RESULTS: A total of 372 children (70%) attained phrase speech and 253 children (47%) attained fluent speech at or after age 4. No demographic or child psychiatric characteristics were associated with phrase speech attainment after age 4, whereas slightly older age and increased internalizing symptoms were associated with fluent speech. In the multivariate analyses, higher nonverbal IQ and less social impairment were both independently associated with the acquisition of phrase and fluent speech, as well as earlier age at acquisition. Stereotyped behavior/repetitive interests and sensory interests were not associated with delayed speech acquisition.
CONCLUSIONS: This study highlights that many severely language-delayed children in the present sample attained phrase or fluent speech at or after age 4 years. These data also implicate the importance of evaluating and considering nonverbal skills, both cognitive and social, when developing interventions and setting goals for language development. Pediatrics 2013;131:e1128-e1134
C1 [Wodka, Ericka L.; Mathy, Pamela; Kalb, Luther] Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD 21211 USA.
[Wodka, Ericka L.; Mathy, Pamela] Johns Hopkins Univ, Sch Med, Baltimore, MD USA.
RP Wodka, EL (reprint author), Kennedy Krieger Inst, Ctr Autism & Related Disorders, 3901 Greenspring Ave, Baltimore, MD 21211 USA.
EM wodka@kennedykrieger.org
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NR 20
TC 4
Z9 4
PU AMER ACAD PEDIATRICS
PI ELK GROVE VILLAGE
PA 141 NORTH-WEST POINT BLVD,, ELK GROVE VILLAGE, IL 60007-1098 USA
SN 0031-4005
J9 PEDIATRICS
JI Pediatrics
PD APR
PY 2013
VL 131
IS 4
BP E1128
EP E1134
DI 10.1542/peds.2012-2221
PG 7
WC Pediatrics
SC Pediatrics
GA 135EF
UT WOS:000318269500011
PM 23460690
ER
PT J
AU Liu, L
Sabo, A
Neale, BM
Nagaswamy, U
Stevens, C
Lim, E
Bodea, CA
Muzny, D
Reid, JG
Banks, E
Coon, H
DePristo, M
Dinh, H
Fennel, T
Flannick, J
Gabriel, S
Garimella, K
Gross, S
Hawes, A
Lewis, L
Makarov, V
Maguire, J
Newsham, I
Poplin, R
Ripke, S
Shakir, K
Samocha, KE
Wu, YQ
Boerwinkle, E
Buxbaum, JD
Cook, EH
Devlin, B
Schellenberg, GD
Sutcliffe, JS
Daly, MJ
Gibbs, RA
Roeder, K
AF Liu, Li
Sabo, Aniko
Neale, Benjamin M.
Nagaswamy, Uma
Stevens, Christine
Lim, Elaine
Bodea, Corneliu A.
Muzny, Donna
Reid, Jeffrey G.
Banks, Eric
Coon, Hillary
DePristo, Mark
Dinh, Huyen
Fennel, Tim
Flannick, Jason
Gabriel, Stacey
Garimella, Kiran
Gross, Shannon
Hawes, Alicia
Lewis, Lora
Makarov, Vladimir
Maguire, Jared
Newsham, Irene
Poplin, Ryan
Ripke, Stephan
Shakir, Khalid
Samocha, Kaitlin E.
Wu, Yuanqing
Boerwinkle, Eric
Buxbaum, Joseph D.
Cook, Edwin H., Jr.
Devlin, Bernie
Schellenberg, Gerard D.
Sutcliffe, James S.
Daly, Mark J.
Gibbs, Richard A.
Roeder, Kathryn
TI Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum
Disorders and Population Controls
SO PLOS GENETICS
LA English
DT Article
ID GENOME-WIDE ASSOCIATION; DE-NOVO MUTATIONS; COPY-NUMBER VARIATION;
SEQUENCING DATA; PRINCIPAL-COMPONENTS; FUNCTIONAL IMPACT; VARIANT
ANALYSIS; COMMON VARIANTS; LARGE-SCALE; GENES
AB We report on results from whole-exome sequencing (WES) of 1,039 subjects diagnosed with autism spectrum disorders (ASD) and 870 controls selected from the NIMH repository to be of similar ancestry to cases. The WES data came from two centers using different methods to produce sequence and to call variants from it. Therefore, an initial goal was to ensure the distribution of rare variation was similar for data from different centers. This proved straightforward by filtering called variants by fraction of missing data, read depth, and balance of alternative to reference reads. Results were evaluated using seven samples sequenced at both centers and by results from the association study. Next we addressed how the data and/or results from the centers should be combined. Gene-based analyses of association was an obvious choice, but should statistics for association be combined across centers (meta-analysis) or should data be combined and then analyzed (mega-analysis)? Because of the nature of many gene-based tests, we showed by theory and simulations that mega-analysis has better power than meta-analysis. Finally, before analyzing the data for association, we explored the impact of population structure on rare variant analysis in these data. Like other recent studies, we found evidence that population structure can confound case-control studies by the clustering of rare variants in ancestry space; yet, unlike some recent studies, for these data we found that principal component-based analyses were sufficient to control for ancestry and produce test statistics with appropriate distributions. After using a variety of gene-based tests and both meta- and mega-analysis, we found no new risk genes for ASD in this sample. Our results suggest that standard gene-based tests will require much larger samples of cases and controls before being effective for gene discovery, even for a disorder like ASD.
C1 [Liu, Li; Bodea, Corneliu A.; Roeder, Kathryn] Carnegie Mellon Univ, Dept Stat, Pittsburgh, PA 15213 USA.
[Sabo, Aniko; Nagaswamy, Uma; Muzny, Donna; Reid, Jeffrey G.; Dinh, Huyen; Gross, Shannon; Hawes, Alicia; Lewis, Lora; Boerwinkle, Eric; Gibbs, Richard A.] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA.
[Neale, Benjamin M.; Lim, Elaine; Ripke, Stephan; Samocha, Kaitlin E.; Daly, Mark J.] Massachusetts Gen Hosp, Dept Med, Analyt & Translat Genet Unit, Boston, MA 02114 USA.
[Neale, Benjamin M.; Lim, Elaine; Ripke, Stephan; Samocha, Kaitlin E.; Daly, Mark J.] Harvard Univ, Sch Med, Boston, MA USA.
[Neale, Benjamin M.; Stevens, Christine; Lim, Elaine; Banks, Eric; DePristo, Mark; Fennel, Tim; Flannick, Jason; Gabriel, Stacey; Garimella, Kiran; Maguire, Jared; Poplin, Ryan; Ripke, Stephan; Shakir, Khalid; Samocha, Kaitlin E.; Daly, Mark J.] Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA.
[Coon, Hillary] Univ Utah, Dept Psychiat, Salt Lake City, UT USA.
[Makarov, Vladimir; Buxbaum, Joseph D.] Mt Sinai Sch Med, Seaver Autism Ctr Res & Treatment, New York, NY USA.
[Makarov, Vladimir; Buxbaum, Joseph D.] Mt Sinai Sch Med, Dept Psychiat, New York, NY USA.
[Newsham, Irene; Wu, Yuanqing] Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA.
[Boerwinkle, Eric] Univ Texas Hlth Sci Ctr Houston, Ctr Human Genet, Houston, TX USA.
[Buxbaum, Joseph D.] Mt Sinai Sch Med, Dept Genet & Genom Sci, New York, NY USA.
[Buxbaum, Joseph D.] Mt Sinai Sch Med, Friedman Brain Inst, New York, NY USA.
[Cook, Edwin H., Jr.] Univ Illinois, Dept Psychiat, Chicago, IL 60612 USA.
[Devlin, Bernie] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA USA.
[Schellenberg, Gerard D.] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA.
[Sutcliffe, James S.] Vanderbilt Univ, Dept Mol Physiol & Biophys, Vanderbilt Brain Inst, Nashville, TN 37232 USA.
[Sutcliffe, James S.] Vanderbilt Univ, Dept Psychiat, Nashville, TN USA.
[Roeder, Kathryn] Carnegie Mellon Univ, Ray & Stephanie Lane Ctr Computat Biol, Pittsburgh, PA 15213 USA.
RP Liu, L (reprint author), Carnegie Mellon Univ, Dept Stat, Pittsburgh, PA 15213 USA.
EM roeder@stat.cmu.edu
RI Liu, Li/G-1897-2015
FU NIH [R01MH089208, R01 MH089025, R01 MH089004, R01 MH089175, R01
MH089482, P50 HD055751, RO1 MH057881, R01 MH061009, UL1 RR024975, P30
HD015052, U54 HG003273, U54 HG003067]
FX This work was directly supported by NIH grants R01MH089208, R01
MH089025, R01 MH089004, R01 MH089175, R01 MH089482, P50 HD055751, RO1
MH057881, R01 MH061009, UL1 RR024975, P30 HD015052, U54 HG003273, and
U54 HG003067 (www.nih.gov). 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 51
TC 26
Z9 26
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1553-7404
J9 PLOS GENET
JI PLoS Genet.
PD APR
PY 2013
VL 9
IS 4
AR e1003443
DI 10.1371/journal.pgen.1003443
PG 15
WC Genetics & Heredity
SC Genetics & Heredity
GA 132MS
UT WOS:000318073300037
PM 23593035
ER
PT J
AU Stosljevic, M
Adamovic, M
AF Stosljevic, Miodrag
Adamovic, Milosav
TI Dermatoglyphic characteristics of digito-palmar complex in autistic boys
in Serbia
SO VOJNOSANITETSKI PREGLED
LA English
DT Article
DE dermatoglyphics; autistic disorder; child; fingers; hand; diagnostic
techniques and procedures; sensitivity and specificity
ID CHILDREN; SCHIZOPHRENIA; PATTERNS
AB Introduction/Aim. Dermatoglyphics is a science that examines dermal patterns on volar side of both palms and soles. Since dermatoglyphs are unique for each person, by examining them a number of parameters can be determined. These parameters could help to diagnose and treat examined individulas. The aim of this study was to determine possible differences of the dermathoglyphic characteristics of digito-palmar complex (DPC) comparing the autistic boys with the healthy examinees. Methods. This study was conducted on a group of 182 boys with infantile autism, aged from 5 to 15 (average age 7.2 years) while the control group consisted of 182 healthy men from 30 to 50 years (average age 38.7 years). Within the digital scope of DPC we examined tree types of dermatoglyphic patterns on fingertips (arch, loop and whrol), as well as dermal ridge count on each finger separately (FRC - finger ridge count) and total dermal ridge count on all the ten fingers (TRC - total ridge count). Within the palmar DPC area we measured the angles between the triradius (atd, dat, adt, atb, btc, ctd), as well as dermal ridge count (RC - ridge count) between the triradius a-b, b-c and c-d. Results. The autistic boys had a significantely higher count of arches (9.17%) on fingertips of both hands when compared to the control group of examinees (4.34%), and the lower count of loops (28.40%) compared with the control group (32.42%). A higher count of arches was especially expressed on the fourth and fifth finger of both hands. Beside this characteristic, the autistic boys had a lower TRC and ab-RC as well as a wider atd angle. Conclusion. Dermatoglyphic analysis could help in diagnosing autism but only as an additional method, never as a dominant diagnostic procedure.
C1 [Stosljevic, Miodrag; Adamovic, Milosav] Univ Belgrade, Fac Special Educ & Rehabil, Belgrade, Serbia.
RP Stosljevic, M (reprint author), Fac Special Educ & Rehabil, Visokog Stevana 2, Belgrade 11000, Serbia.
EM drstosljevic@gmail.com
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NR 21
TC 0
Z9 0
PU MILITARY MEDICAL ACAD-INI
PI BELGRADE
PA CRNOTRAVSKA 17, PO BOX 33-35, BELGRADE, 11040, SERBIA
SN 0042-8450
J9 VOJNOSANIT PREGL
JI Vojnosanit. Pregl.
PD APR
PY 2013
VL 70
IS 4
BP 386
EP 390
DI 10.2298/VSP1304386S
PG 5
WC Medicine, General & Internal
SC General & Internal Medicine
GA 133HK
UT WOS:000318129300008
PM 23700943
ER
PT J
AU Bessey, M
Coulombe, JA
Smith, IM
Corkum, P
AF Bessey, Meredith
Coulombe, J. Aimee
Smith, Isabel M.
Corkum, Penny
TI Assessing Parental Sleep Attitudes and Beliefs in Typically Developing
Children and Children With ADHD and ASD
SO CHILDRENS HEALTH CARE
LA English
DT Article
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; INFANT SLEEP;
DEVELOPMENTAL-DISABILITIES; MOTHERS ATTRIBUTIONS; YOUNG-CHILDREN;
BEHAVIOR; COGNITIONS; CHILDHOOD; QUESTIONNAIRE; DISTURBANCE
AB Sleep problems are commonly reported in children, yet often go untreated. Parental beliefs about sleep may be a contributing factor. This study developed a measure to assess these beliefs. The Sleep Attitudes and Beliefs Scale (SABS) was administered to parents of typically developing (TD) children (n=179) and children with attention deficit hyperactivity disorder (ADHD; n=84) and autism spectrum disorder (ASD; n=92). Results indicated that the psychometric properties (i.e., inter-item reliability and Cohen's alpha) of the SABS are good and that, in comparison to the TD sample, parents of children with ADHD and ASD held beliefs that children's sleep problems were more intrinsic, less modifiable, and less responsive to treatment. Further work is required, but it is hoped that the SABS can be used both clinically, to determine factors that may contribute to and maintain children's sleep problems, and in research settings.
C1 [Bessey, Meredith; Coulombe, J. Aimee; Corkum, Penny] Dalhousie Univ, Dept Psychol & Neurosci, Halifax, NS B3H 4R2, Canada.
[Smith, Isabel M.] Dalhousie Univ, Dept Pediat, Halifax, NS B3H 4R2, Canada.
[Smith, Isabel M.; Corkum, Penny] IWK Hlth Ctr, Halifax, NS, Canada.
RP Corkum, P (reprint author), Dalhousie Univ, Dept Psychol & Neurosci, 1355 Oxford St,POB 15000, Halifax, NS B3H 4R2, Canada.
EM penny.corkum@dal.ca
RI sebastianovitsch, stepan/G-8507-2013
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NR 49
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0273-9615
J9 CHILD HEALTH CARE
JI Child. Health Care
PD APR 1
PY 2013
VL 42
IS 2
BP 116
EP 133
DI 10.1080/02739615.2013.766096
PG 18
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA 128DT
UT WOS:000317750000002
ER
PT J
AU Shinoda, Y
Sadakata, T
Furuichi, T
AF Shinoda, Yo
Sadakata, Tetsushi
Furuichi, Teiichi
TI Animal Models of Autism Spectrum Disorder (ASD): A Synaptic-Level
Approach to Autistic-Like Behavior in Mice
SO EXPERIMENTAL ANIMALS
LA English
DT Review
DE ASD; autism; BDNF; CAPS2
ID NEUROTROPHIN RELEASE; STRUCTURAL VARIANTS; MENTAL-RETARDATION; ACTIVATOR
PROTEIN; MUTATION; NEUROLIGIN-3; CAPS2; GENE; TRANSMISSION; PHENOTYPES
AB Autism spectrum disorder (ASD) is one of the most common neurodevelopmental disorders and is thought to be closely associated with genetic factors. It is noteworthy that many ASD-associated genes reported by genome-wide association studies encode proteins related to synaptic formation, transmission, and plasticity. Therefore, it is essential to elucidate the relationship between deficiencies in these genes and the relevant ASD-related phenotypes using synaptic and behavioral phenotypic analysis of mice that are genetically modified for genes related to ASD (e.g., knockout or mutant mice). In this review, we focus on the behavioral-, cellular-, and circuit-level phenotypes, including synaptic formation and function, of several knockout mouse models with genetic mutations related to ASD. Moreover, we introduce our recent findings on the possible association of the dense-core vesicle secretion-related gene CAPS2/CADPS2 with ASD by using knockout mice. Finally, we discuss the usefulness and limitations of various mouse models with single gene mutations for understanding ASD.
C1 [Shinoda, Yo; Furuichi, Teiichi] Tokyo Univ Sci, Fac Sci & Technol, Dept Appl Biol Sci, Noda, Chiba 2788510, Japan.
[Shinoda, Yo; Sadakata, Tetsushi; Furuichi, Teiichi] CREST JST, Kawaguchi, Saitama 3320012, Japan.
[Sadakata, Tetsushi] Gunma Univ, Adv Sci Res Leaders Dev Unit, Maebashi, Gumma 3718511, Japan.
[Furuichi, Teiichi] RIKEN BSI, Wako, Saitama 3510198, Japan.
RP Furuichi, T (reprint author), Tokyo Univ Sci, Fac Sci & Technol, Dept Appl Biol Sci, 2641 Yamazaki, Noda, Chiba 2788510, Japan.
FU Japanese Ministry of Education, Culture, Sports, Science and Technology;
Japan Society for the Promotion of Science; Japan Science and Technology
Agency; Hamaguchi Foundation for the Advancement of Biochemistry
FX This study was supported by Grants from the Japanese Ministry of
Education, Culture, Sports, Science and Technology, the Japan Society
for the Promotion of Science, and the Japan Science and Technology
Agency and by the Hamaguchi Foundation for the Advancement of
Biochemistry.
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NR 31
TC 7
Z9 7
PU INT PRESS EDITING CENTRE INC
PI TOKYO
PA 1-2-3 SUGAMO, TOSHIMA-KU, TOKYO, 170 0002, JAPAN
SN 1341-1357
J9 EXP ANIM TOKYO
JI Exp. Anim.
PD APR
PY 2013
VL 62
IS 2
BP 71
EP 78
PG 8
WC Veterinary Sciences; Zoology
SC Veterinary Sciences; Zoology
GA 127PH
UT WOS:000317710400001
PM 23615300
ER
PT J
AU Jain, R
Juneja, M
Sairam, S
AF Jain, Rahul
Juneja, Monica
Sairam, Smitha
TI Children With Developmental Disabilities in India: Age of Initial
Concern and Referral for Rehabilitation Services, and Reasons for Delay
in Referral
SO JOURNAL OF CHILD NEUROLOGY
LA English
DT Article
DE autism spectrum disorders; developmental disabilities; initial concern;
referral; rehabilitation services
ID EARLY INTERVENTION; PERSPECTIVE; FAMILIES; AUTISM
AB This study aimed to identify the age at first concern and age at referral for rehabilitation services in children with developmental disabilities in India. Two hundred fifty-nine children were included and data were collected from the parents. In children with developmental disabilities (excluding autism spectrum disorders), median age at initial concern was 7 months and age at referral for rehabilitation services was 13 months. In children with autism spectrum disorders, median age at initial concern was 24 months and age at referral was 42 months. Physician's recognition of the condition, single child, institutional delivery and neonatal admission >= 4 days were associated with early referral. The common reasons cited by the parents for delay in services were reassurance by physicians or family members and nonreferral by the physicians. Thus, routine screening for developmental problems (including autism) and improving the awareness of these conditions among physicians and society would lead to early referral.
C1 [Jain, Rahul; Juneja, Monica; Sairam, Smitha] Maulana Azad Med Coll, Child Dev Ctr, New Delhi, India.
[Jain, Rahul; Juneja, Monica; Sairam, Smitha] Associated Lok Nayak Hosp, New Delhi, India.
RP Juneja, M (reprint author), C-77 South Extens 2, New Delhi 110049, India.
EM drmonicajuneja@gmail.com
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NR 16
TC 5
Z9 5
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0883-0738
J9 J CHILD NEUROL
JI J. Child Neurol.
PD APR
PY 2013
VL 28
IS 4
BP 455
EP 460
DI 10.1177/0883073812447685
PG 6
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 127FK
UT WOS:000317682500004
PM 22752480
ER
PT J
AU Perovic, A
Modyanova, N
Wexler, K
AF Perovic, Alexandra
Modyanova, Nadya
Wexler, Ken
TI Comparison of Grammar in Neurodevelopmental Disorders: The Case of
Binding in Williams Syndrome and Autism With and Without Language
Impairment
SO LANGUAGE ACQUISITION
LA English
DT Article
ID SPECTRUM DISORDERS; DOWN-SYNDROME; CHILDREN; ACQUISITION; ABILITIES
AB This study investigates whether distinct neurodevelopmental disorders show distinct patterns of impairments in particular grammatical abilities and the relation of those grammatical patterns to general language delays and intellectual disabilities. We studied two disorders (autism and Williams syndrome [WS]) and two distinct properties (Principle A that governs reflexives and Principle B that, together with its associated pragmatic rule, governs pronouns) of the binding module of grammar. These properties are known to have markedly different courses of acquisition in typical development. We compare the knowledge of binding in children with autism with language impairment (ALI) and those with normal language (ALN) to that of children with WS, matched on age to the ALN group, and on age and nonverbal mental age (MA) to the ALI group, as well as to two groups of typically developing (TD) controls, matched on nonverbal MA to ALI and ALN groups. Our results reveal a remarkably different pattern of comprehension of personal pronouns and reflexives in ALI as opposed to ALN, WS, and two groups of TD controls. All five groups demonstrated an equal delay in their comprehension of personal pronouns, in line with widely reported delays in TD literature, argued to be due to delayed pragmatic abilities. However, and most strikingly, the ALI group also showed a pronounced difficulty in comprehension of reflexive pronouns, and particularly of the knowledge that the antecedent of a reflexive must c-command it. The revealed pattern confirms the existence of a particular impairment concerning Principle A in this module of grammar, unrelated to general language delays or cognitive deficits generally present in a large portion of individuals with autism as well as WS, or to general pragmatic deficits, known to be particularly prevalent in the population with autism.
C1 [Perovic, Alexandra] UCL, London WC1N 1PF, England.
[Modyanova, Nadya; Wexler, Ken] MIT, Cambridge, MA 02139 USA.
RP Perovic, A (reprint author), UCL, Div Psychol & Language Sci, Dept Dev Sci, Chandler House,2 Wakefield St, London WC1N 1PF, England.
EM a.perovic@ucl.ac.uk
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NR 57
TC 0
Z9 0
PU PSYCHOLOGY PRESS
PI HOVE
PA 27 CHURCH RD, HOVE BN3 2FA, EAST SUSSEX, ENGLAND
SN 1048-9223
J9 LANG ACQUIS
JI Lang. Acquisition
PD APR 1
PY 2013
VL 20
IS 2
SI SI
BP 133
EP 154
DI 10.1080/10489223.2013.766742
PG 22
WC Linguistics; Language & Linguistics
SC Linguistics
GA 130DP
UT WOS:000317893200005
ER
PT J
AU Whitehouse, AJO
Stanley, FJ
AF Whitehouse, Andrew J. O.
Stanley, Fiona J.
TI Is autism one or multiple disorders?
SO MEDICAL JOURNAL OF AUSTRALIA
LA English
DT Editorial Material
ID SPECTRUM DISORDERS
C1 [Whitehouse, Andrew J. O.; Stanley, Fiona J.] Univ Western Australia, Ctr Child Hlth Res, Telethon Inst Child Hlth Res, Perth, WA 6009, Australia.
RP Whitehouse, AJO (reprint author), Univ Western Australia, Ctr Child Hlth Res, Telethon Inst Child Hlth Res, Perth, WA 6009, Australia.
EM awhitehouse@ichr.uwa.edu.au
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Waterhouse L, 2013, RETHINKING AUTISM: VARIATION AND COMPLEXITY, P1
NR 10
TC 4
Z9 4
PU AUSTRALASIAN MED PUBL CO LTD
PI PYRMONT
PA LEVEL 2, 26-32 PYRMONT BRIDGE RD, PYRMONT, NSW 2009, AUSTRALIA
SN 0025-729X
J9 MED J AUSTRALIA
JI Med. J. Aust.
PD APR 1
PY 2013
VL 198
IS 6
BP 302
EP 303
DI 10.5694/mja12.11667
PG 2
WC Medicine, General & Internal
SC General & Internal Medicine
GA 128XV
UT WOS:000317803900004
PM 23545020
ER
PT J
AU Bushman, DM
Chun, J
AF Bushman, Diane M.
Chun, Jerold
TI The genomically mosaic brain: Aneuploidy and more in neural diversity
and disease
SO SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
LA English
DT Review
DE Aneuploidy; Genome; Mosaicism; Somatic mutation; CNS; CNV
ID PREMATURE CHROMATID SEPARATION; IN-SITU HYBRIDIZATION; EMBRYONIC
STEM-CELLS; PERIPHERAL-BLOOD LYMPHOCYTES; MITOTIC-SPINDLE CHECKPOINT;
AUTISM SPECTRUM DISORDER; AMYLOID-BETA DEPOSITION; DNA-REPLICATION
STRESS; CARDIO-FACIAL SYNDROME; COPY NUMBER VARIANTS
AB Genomically identical cells have long been assumed to comprise the human brain, with post-genomic mechanisms giving rise to its enormous diversity, complexity, and disease susceptibility. However, the identification of neural cells containing somatically generated mosaic aneuploidy - loss and/or gain of chromosomes from a euploid complement - and other genomic variations including LINE1 retrotransposons and regional patterns of DNA content variation (DCV), demonstrate that the brain is genomically heterogeneous. The precise phenotypes and functions produced by genomic mosaicism are not well understood, although the effects of constitutive aberrations, as observed in Down syndrome, implicate roles for defined mosaic genomes relevant to cellular survival, differentiation potential, stem cell biology, and brain organization. Here we discuss genomic mosaicism as a feature of the normal brain as well as a possible factor in the weak or complex genetic linkages observed for many of the most common forms of neurological and psychiatric diseases. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Bushman, Diane M.; Chun, Jerold] Scripps Res Inst, Mol & Cellular Neurosci Dept, Dorris Neurosci Ctr, La Jolla, CA 92037 USA.
[Bushman, Diane M.] Univ Calif San Diego, Sch Med, Biomed Sci Grad Program, La Jolla, CA 92093 USA.
RP Chun, J (reprint author), Scripps Res Inst, 10550 N Torrey Pines Rd,DNC 118 Chun, La Jolla, CA 92037 USA.
EM jchun@scripps.edu
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NR 235
TC 15
Z9 15
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 1084-9521
J9 SEMIN CELL DEV BIOL
JI Semin. Cell Dev. Biol.
PD APR
PY 2013
VL 24
IS 4
BP 357
EP 369
DI 10.1016/j.semcdb.2013.02.003
PG 13
WC Cell Biology; Developmental Biology
SC Cell Biology; Developmental Biology
GA 129KV
UT WOS:000317838900015
PM 23466288
ER
PT J
AU Loucas, T
Riches, N
Baird, G
Pickles, A
Simonoff, E
Chandler, S
Charman, T
AF Loucas, Tom
Riches, Nick
Baird, Gillian
Pickles, Andrew
Simonoff, Emily
Chandler, Susie
Charman, Tony
TI Spoken word recognition in adolescents with autism spectrum disorders
and specific language impairment
SO APPLIED PSYCHOLINGUISTICS
LA English
DT Article
ID SPEECH-PERCEPTION; PRESCHOOL-CHILDREN; GATING PARADIGM; INDIVIDUALS;
FREQUENCY; COMPREHENSION; PREVALENCE; ABILITY; UPDATE; ADULTS
AB Spoken word recognition, during gating, appears intact in specific language impairment (SLI). This study used gating to investigate the process in adolescents with autism spectrum disorders plus language impairment (ALI). Adolescents with ALI, SLI, and typical language development (TLD), matched on nonverbal IQ listened to gated words that varied in frequency (low/high) and number of phonological onset neighbors (low/high density). Adolescents with ALI required more speech input to initially identify low-frequency words with low competitor density than those with SLI and those with TLD, who did not differ. These differences may be due to less well specified word form representations in ALI.
C1 [Loucas, Tom; Riches, Nick] Univ Reading, Reading RG6 6AL, Berks, England.
[Baird, Gillian] Guys Hosp, London SE1 9RT, England.
[Chandler, Susie; Charman, Tony] Inst Educ, London, England.
RP Loucas, T (reprint author), Univ Reading, Sch Psychol & Clin Language Sci, Reading RG6 6AL, Berks, England.
EM t.loucas@reading.ac.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 58
TC 0
Z9 0
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0142-7164
J9 APPL PSYCHOLINGUIST
JI Appl. Psycholinguist.
PD APR
PY 2013
VL 34
IS 2
BP 301
EP 322
DI 10.1017/S0142716411000701
PG 22
WC Linguistics; Psychology, Experimental
SC Linguistics; Psychology
GA 123ZQ
UT WOS:000317432600004
ER
PT J
AU Echeverria, F
Miltenberger, RG
AF Echeverria, Fran
Miltenberger, Raymond G.
TI REDUCING RAPID EATING IN ADULTS WITH INTELLECTUAL DISABILITIES
SO BEHAVIORAL INTERVENTIONS
LA English
DT Article
ID TACTILE PROMPT; AUTISM; INITIATIONS; REDUCTION
AB Rapid eating is a frequent problem among individuals with developmental disabilities that can pose a threat to health. This study sought to reduce the rate of eating behaviors in two adults diagnosed with moderate intellectual disability. Assessment of eating rate took place in the participants' group homes during lunch or dinner meals. Procedures included the use of vibrating pagers with and without verbal prompts to prompt eating and prevent rapid eating behaviors. Results demonstrate a clear reduction in rate of eating when using vibrating pagers and verbal prompts for both participants. Copyright (c) 2012 John Wiley & Sons, Ltd.
C1 [Echeverria, Fran; Miltenberger, Raymond G.] Univ S Florida, Tampa, FL USA.
RP Miltenberger, RG (reprint author), USF MHC 2113A,13301 Bruce B Downs Blvd, Tampa, FL 33612 USA.
EM miltenbe@usf.edu
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Wright CS, 2002, J APPL BEHAV ANAL, V35, P89, DOI 10.1901/jaba.2002.35-89
NR 11
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1072-0847
J9 BEHAV INTERVENT
JI Behav. Intervent.
PD APR
PY 2013
VL 28
IS 2
BP 131
EP 142
DI 10.1002/bin.1351
PG 12
WC Psychology, Clinical
SC Psychology
GA 129SW
UT WOS:000317863700002
ER
PT J
AU Shabani, DB
Lam, WY
AF Shabani, Daniel B.
Lam, Wing Yan
TI A REVIEW OF COMPARISON STUDIES IN APPLIED BEHAVIOR ANALYSIS
SO BEHAVIORAL INTERVENTIONS
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; PROBLEM-SOLVING INTERVENTIONS; DIFFERENTIAL
REINFORCEMENT; SOCIAL-SKILLS; NONCONTINGENT REINFORCEMENT; INTELLECTUAL
DISABILITIES; STIMULUS PREFERENCE; EXTERNAL CONTROL; YOUNG-CHILDREN;
FIXED-TIME
AB A commonly used research design in applied behavior analysis involves comparing two or more independent variables. Typically, the relative effectiveness of two different interventions is measured on a single dependent variable. In the current review, 54 comparison studies from seven different peer-reviewed, behavior analytic journals were evaluated between the years 2002 and 2011. Each study was evaluated across seven dimensions: (1) experimental design, (2) setting, (3) participants, (4) type of comparison, (5) number of comparisons, (6) treatment integrity, and (7) outcome. There were some consistencies across studies, with half resulting in equivalent outcomes across comparisons. In addition, most studies employed the use of an alternating treatments or multi-element single-subject design and compared a teaching methodology. On the basis of these results, the value of comparison study as well as directions for future comparison research is discussed. Overall, comparison study is a worthy and important enterprise that requires a high degree of experimental control and a careful analyses of the results, regardless of whether the outcome clearly favored one independent variable or not. Copyright (c) 2013 John Wiley & Sons, Ltd.
C1 [Shabani, Daniel B.] Ctr Behav Anal & Language Dev, Santa Monica, CA 90403 USA.
[Lam, Wing Yan] Calif State Univ Los Angeles, Dept Psychol, Los Angeles, CA 90032 USA.
RP Shabani, DB (reprint author), Ctr Behav Anal & Language Dev, 2730 Wilshire Blvd,Suite 105, Santa Monica, CA 90403 USA.
EM dshabani@shabani-institute.org
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NR 89
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1072-0847
J9 BEHAV INTERVENT
JI Behav. Intervent.
PD APR
PY 2013
VL 28
IS 2
BP 158
EP 183
DI 10.1002/bin.1361
PG 26
WC Psychology, Clinical
SC Psychology
GA 129SW
UT WOS:000317863700004
ER
PT J
AU Ray, FA
Zimmerman, E
Robinson, B
Cornforth, MN
Bedford, JS
Goodwin, EH
Bailey, SM
AF Ray, F. Andrew
Zimmerman, Erin
Robinson, Bruce
Cornforth, Michael N.
Bedford, Joel S.
Goodwin, Edwin H.
Bailey, Susan M.
TI Directional genomic hybridization for chromosomal inversion discovery
and detection
SO CHROMOSOME RESEARCH
LA English
DT Article
DE chromatid painting; chromosomal inversions; Strand-specific
hybridization
ID IN-SITU HYBRIDIZATION; CHRONIC MYELOGENOUS LEUKEMIA; STRAND-SPECIFIC
FISH; STRUCTURAL VARIATION; MAMMALIAN TELOMERES; MYELOID-LEUKEMIA;
HIGH-RESOLUTION; FLUORESCENCE; CANCER; DNA
AB Chromosomal rearrangements are a source of structural variation within the genome that figure prominently in human disease, where the importance of translocations and deletions is well recognized. In principle, inversions-reversals in the orientation of DNA sequences within a chromosome-should have similar detrimental potential. However, the study of inversions has been hampered by traditional approaches used for their detection, which are not particularly robust. Even with significant advances in whole genome approaches, changes in the absolute orientation of DNA remain difficult to detect routinely. Consequently, our understanding of inversions is still surprisingly limited, as is our appreciation for their frequency and involvement in human disease. Here, we introduce the directional genomic hybridization methodology of chromatid painting-a whole new way of looking at structural features of the genome-that can be employed with high resolution on a cell-by-cell basis, and demonstrate its basic capabilities for genome-wide discovery and targeted detection of inversions. Bioinformatics enabled development of sequence- and strand-specific directional probe sets, which when coupled with single-stranded hybridization, greatly improved the resolution and ease of inversion detection. We highlight examples of the far-ranging applicability of this cytogenomics-based approach, which include confirmation of the alignment of the human genome database and evidence that individuals themselves share similar sequence directionality, as well as use in comparative and evolutionary studies for any species whose genome has been sequenced. In addition to applications related to basic mechanistic studies, the information obtainable with strand-specific hybridization strategies may ultimately enable novel gene discovery, thereby benefitting the diagnosis and treatment of a variety of human disease states and disorders including cancer, autism, and idiopathic infertility.
C1 [Ray, F. Andrew; Bedford, Joel S.; Bailey, Susan M.] Colorado State Univ, Dept Environm & Radiol Hlth Sci, Ft Collins, CO 80523 USA.
[Cornforth, Michael N.] Univ Texas Med Branch, Dept Radiat Oncol, Galveston, TX 77555 USA.
[Ray, F. Andrew; Zimmerman, Erin; Robinson, Bruce; Cornforth, Michael N.; Bedford, Joel S.; Goodwin, Edwin H.; Bailey, Susan M.] KromaTiD Inc, Ft Collins, CO 80524 USA.
RP Bailey, SM (reprint author), KromaTiD Inc, 320 East Vine Dr,Suite 316, Ft Collins, CO 80524 USA.
EM Susan.Bailey@colostate.edu
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NR 38
TC 2
Z9 2
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0967-3849
J9 CHROMOSOME RES
JI Chromosome Res.
PD APR
PY 2013
VL 21
IS 2
BP 165
EP 174
DI 10.1007/s10577-013-9345-0
PG 10
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 127HL
UT WOS:000317688800006
PM 23572395
ER
PT J
AU Johnson, S
Wolke, D
AF Johnson, Samantha
Wolke, Dieter
TI Behavioural outcomes and psychopathology during adolescence
SO EARLY HUMAN DEVELOPMENT
LA English
DT Article
DE Preterm; Behaviour; Autism spectrum disorders; ADHD; Anxiety;
Psychiatric disorders
ID LOW-BIRTH-WEIGHT; QUALITY-OF-LIFE; AGE 12 YEARS; PRETERM BIRTH;
PSYCHIATRIC-DISORDERS; CHILDREN BORN; PSYCHOTIC SYMPTOMS; RISK-FACTORS;
SOCIAL-CONSEQUENCES; MENTAL-DISORDERS
AB Preterm birth is associated with a high risk of residual neurodevelopmental disability and cognitive impairment. These problems are closely associated with psychiatric disorders and thus it is unsurprising that preterm birth also confers high risk for poor long term mental health. The risk associated with preterm birth is not a general one, but appears to be specific to symptoms and disorders associated with anxiety, inattention and social and communication problems, and manifest in a significantly higher prevalence of emotional disorders, ADHD and Autism. Adolescence is a key period for mental health and studies have shown that problems evident in childhood persist over this time and are more stable amongst preterm individuals than term-born peers. There is also modest evidence for an increased prevalence of psychotic symptoms in preterm adolescents. The high prevalence of psychiatric disorders, present in around 25% of preterm adolescents, requires long term screening and intervention. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
C1 [Johnson, Samantha] Univ Leicester, Dept Hlth Sci, Leicester, Leics, England.
[Wolke, Dieter] Univ Warwick, Warwick Med Sch, Dept Psychol, Coventry CV4 7AL, W Midlands, England.
[Wolke, Dieter] Univ Warwick, Warwick Med Sch, Div Mental Hlth & Wellbeing, Coventry CV4 7AL, W Midlands, England.
RP Johnson, S (reprint author), Univ Leicester, Dept Hlth Sci, 22-28 Princess Rd West, Leicester, Leics, England.
EM sjj19@le.ac.uk; d.wolke@warwick.ac.uk
FU German Federal Ministry of Education and Science (BMBF) [01ER0801];
Medical Research Council (MRC) in the UK [MR\J01107x\1]
FX D.W. was partly supported by grant 01ER0801 from the German Federal
Ministry of Education and Science (BMBF) and grant MR\J01107x\1 from the
Medical Research Council (MRC) in the UK. The opinions expressed are
those of the authors and not the grant giving bodies.
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NR 91
TC 11
Z9 11
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0378-3782
J9 EARLY HUM DEV
JI Early Hum. Dev.
PD APR
PY 2013
VL 89
IS 4
BP 199
EP 207
DI 10.1016/j.earlhumdev.2013.01.014
PG 9
WC Obstetrics & Gynecology; Pediatrics
SC Obstetrics & Gynecology; Pediatrics
GA 124IJ
UT WOS:000317456700002
PM 23455605
ER
PT J
AU Nosarti, C
AF Nosarti, Chiara
TI Structural and functional brain correlates of behavioral outcomes during
adolescence
SO EARLY HUMAN DEVELOPMENT
LA English
DT Article
DE Preterm birth; Behavioral symptoms; Brain; Magnetic resonance imaging
ID LOW-BIRTH-WEIGHT; DEFICIT HYPERACTIVITY DISORDER; 1ST EPISODE
SCHIZOPHRENIA; AUTISM SPECTRUM DISORDER; SCHOOL-AGE-CHILDREN; PRETERM
BIRTH; WHITE-MATTER; YOUNG-ADULTS; DEVELOPMENTAL NEUROPATHOLOGY;
PREFRONTAL CORTEX
AB Several studies have described an association between very preterm birth and behavioral and psychiatric outcomes in childhood and adolescence. The exact mechanisms underlying this association are unknown, but impaired neurodevelopment has been proposed as a possible etiological factor.
Existing research suggests a selective vulnerability of brain regions associated with a variety of behavioral and psychiatric outcomes following very preterm birth. This article reviews studies that have directly explored the structural and functional brain correlates of behavioral outcomes in ex-preterm individuals, with an emphasis on attentional problems, overall mental health functioning including internalizing and externalizing scores, and psychosocial adjustment. The focus here is on neuroimaging research conducted during adolescence, a period of life associated with the emergence and early expression of several psychiatric disorders.
The neurodevelopmental hypothesis is used as a theoretical framework, according to which early brain lesions interact with the developing brain to increase later vulnerability to psychopathology. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
C1 Kings Coll London, Kings Hlth Partners, Inst Psychiat, Dept Psychosis Studies, London SE5 8AF, England.
RP Nosarti, C (reprint author), Kings Coll London, Kings Hlth Partners, Inst Psychiat, Dept Psychosis Studies, 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
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NR 115
TC 4
Z9 4
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0378-3782
J9 EARLY HUM DEV
JI Early Hum. Dev.
PD APR
PY 2013
VL 89
IS 4
BP 221
EP 227
DI 10.1016/j.earlhumdev.2013.02.002
PG 7
WC Obstetrics & Gynecology; Pediatrics
SC Obstetrics & Gynecology; Pediatrics
GA 124IJ
UT WOS:000317456700005
PM 23477720
ER
PT J
AU Li, YH
Tottenham, N
AF Li, Yuan Hang
Tottenham, Nim
TI Exposure to the Self-Face Facilitates Identification of Dynamic Facial
Expressions: Influences on Individual Differences
SO EMOTION
LA English
DT Article
DE self-face; emotion; facial expression; dynamic expression; autism
quotient
ID AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; MIRROR NEURON
SYSTEM; EMOTION RECOGNITION; ASPERGER-SYNDROME; NEGATIVE AFFECT;
QUOTIENT AQ; VALIDITY; PERCEPTION; INVENTORY
AB A growing literature suggests that the self-face is involved in processing the facial expressions of others. The authors experimentally activated self-face representations to assess its effects on the recognition of dynamically emerging facial expressions of others. They exposed participants to videos of either their own faces (self-face prime) or faces of others (nonself-face prime) prior to a facial expression judgment task. Their results show that experimentally activating self-face representations results in earlier recognition of dynamically emerging facial expression. As a group, participants in the self-face prime condition recognized expressions earlier (when less affective perceptual information was available) compared to participants in the nonself-face prime condition. There were individual differences in performance, such that poorer expression identification was associated with higher autism traits (in this neurocognitively healthy sample). However, when randomized into the self-face prime condition, participants with high autism traits performed as well as those with low autism traits. Taken together, these data suggest that the ability to recognize facial expressions in others is linked with the internal representations of our own faces.
C1 [Li, Yuan Hang; Tottenham, Nim] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90095 USA.
RP Tottenham, N (reprint author), Univ Calif Los Angeles, Dept Psychol, Box 951563, Los Angeles, CA 90095 USA.
EM nimtottenham@ucla.edu
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NR 43
TC 1
Z9 1
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 1528-3542
J9 EMOTION
JI Emotion
PD APR
PY 2013
VL 13
IS 2
BP 196
EP 202
DI 10.1037/a0030755
PG 7
WC Psychology, Experimental
SC Psychology
GA 125FI
UT WOS:000317524600004
PM 23205521
ER
PT J
AU Aviv, A
Susser, E
AF Aviv, Abraham
Susser, Ezra
TI Leukocyte Telomere Length and the Father's Age Enigma: Implications for
Population Health and for Life Course
SO INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
LA English
DT Article
ID ADVANCING PATERNAL AGE; MALE-DRIVEN EVOLUTION; SPONTANEOUS MUTATION;
DNA-SEQUENCES; BONE-MARROW; HUMANS; CELLS; DYNAMICS; DISEASE; BIOLOGY
AB What are the implications for population health of the demographic trend toward increasing paternal age at conception (PAC) in modern societies? We propose that the effects of older PAC are likely to be broad and harmful in some domains of health but beneficial in others. Harmful effects of older PAC have received the most attention. Thus, for example, older PAC is associated with an increased risk of offspring having rare conditions such as achondroplasia and Marfan syndrome, as well as with neurodevelopmental disorders such as autism. However, newly emerging evidence in the telomere field suggests potentially beneficial effects, since older PAC is associated with a longer leukocyte telomere length (LTL) in offspring, and a longer LTL is associated with a reduced risk of atherosclerosis and with increased survival in the elderly. Thus, older PAC may cumulatively increase resistance to atherosclerosis and lengthen lifespan in successive generations of modern humans. In this paper we: (i) introduce these novel findings; (ii) discuss potential explanations for the effect of older PAC on offspring LTL; (iii) draw implications for population health and for life course; (iv) put forth an evolutionary perspective as a context for the multigenerational effects of PAC; and (v) call for broad and intensive research to understand the mechanisms underlying the effects of PAC. We draw together work across a range of disciplines to offer an integrated perspective of this issue.
C1 [Aviv, Abraham] Univ Med & Dent New Jersey, New Jersey Med Sch, Ctr Human Dev & Aging, Newark, NJ 07103 USA.
[Aviv, Abraham; Susser, Ezra] Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY USA.
[Susser, Ezra] New York State Psychiat Inst & Hosp, New York, NY 10032 USA.
RP Aviv, A (reprint author), Univ Med & Dent New Jersey, New Jersey Med Sch, Ctr Human Dev & Aging, 185 S Orange Ave, Newark, NJ 07103 USA.
EM avivab@umdnj.edu
FU NIH [AG020132, AG021593, AG030678, HD071180, AG023028, MH059114];
University of Groeningen, Germany
FX The research on human telomere biology and its genetics described in
this paper has been supported by NIH grants AG020132, AG021593, AG030678
and HD071180 (to A.A.). The research on paternal age and other early
determinants of adult health has been supported by NIH grants AG023028,
MH059114, and HD071180, and by a Dr. Lisa Oehler Visiting Professorship,
University of Groeningen, Germany (to E,S,). We would like to
acknowledge comments by Sarah Tishkoff, Scott Williams, Pam-Factor
Litvak, and Hana Aviv that helped in the writing of this paper.
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TC 10
Z9 10
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0300-5771
J9 INT J EPIDEMIOL
JI Int. J. Epidemiol.
PD APR
PY 2013
VL 42
IS 2
BP 457
EP 462
DI 10.1093/ije/dys236
PG 6
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA 126OS
UT WOS:000317627800019
PM 23382366
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PT J
AU Inui, T
AF Inui, Toshio
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LA English
DT Review
DE autism spectrum disorders; Williams syndrome; etiology; morphological
abnormality; functional abnormality
ID MIRROR-NEURON SYSTEM; HUMAN ORBITOFRONTAL CORTEX; SUPERIOR TEMPORAL
SULCUS; HIGH-FUNCTIONING AUTISM; PREFRONTAL CORTEX; SPECTRUM DISORDER;
SOCIAL COGNITION; BRAIN MECHANISMS; FRONTAL-CORTEX; VISUAL-CORTEX
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C1 [Inui, Toshio] Kyoto Univ, Kyoto 6068501, Japan.
RP Inui, T (reprint author), Kyoto Univ, Dept Intelligence Sci & Technol, Grad Sch Informat, Sakyo Ku, Yoshida Honmachi, Kyoto 6068501, Japan.
EM inui@i.kyoto-u.ac.jp
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NR 113
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-5368
J9 JPN PSYCHOL RES
JI Jpn. Psychol. Res.
PD APR
PY 2013
VL 55
IS 2
SI SI
BP 99
EP 117
DI 10.1111/jpr.12004
PG 19
WC Psychology, Multidisciplinary
SC Psychology
GA 123QN
UT WOS:000317405500002
ER
PT J
AU Kikuchi, Y
Senju, A
Hasegawa, T
Tojo, Y
Osanai, H
AF Kikuchi, Yukiko
Senju, Atsushi
Hasegawa, Toshikazu
Tojo, Yoshikuni
Osanai, Hiroo
TI The effect of spatial frequency and face inversion on facial expression
processing in children with autism spectrum disorder
SO JAPANESE PSYCHOLOGICAL RESEARCH
LA English
DT Article
DE autism spectrum disorder; facial expression; local processing; spatial
frequencies; inversion effect
ID HIGH-FUNCTIONING AUTISM; UPSIDE-DOWN FACES; EMOTION RECOGNITION;
ASPERGER-SYNDROME; IMPAIRED RECOGNITION; SELECTIVE ATTENTION;
WILLIAMS-SYNDROME; COGNITIVE-STYLE; PERCEPTION; ADULTS
AB To investigate whether facial expression processing in children with autism spectrum disorder (ASD) is based on local information of the stimuli, we prepared low spatial frequency (LSF) images with blurred facial features and high spatial frequency (HSF) images with rich facial features from broad (normal) spatial frequency (BSF) images. Eighteen children with ASD (mean age 11.9years) and 19 typically developing (TD) children (mean age 11.4years) matched on nonverbal IQ were presented these stimuli in upright and inverted orientations. The children with ASD had difficulty in processing facial expressions from the BSF and LSF images, but not from the HSF images. In addition, the BSF and HSF images elicited the inversion effect in the TD children, but not in the children with ASD. In contrast, the LSF images elicited the inversion effect in both groups of children. These results suggest that children with ASD are biased towards processing facial expression based on local information, even though their capacity to process facial expressions configurally is spared.
C1 [Kikuchi, Yukiko; Senju, Atsushi; Hasegawa, Toshikazu] Univ Tokyo, Tokyo 1138654, Japan.
[Tojo, Yoshikuni] Ibaraki Univ, Mito, Ibaraki 3108512, Japan.
[Osanai, Hiroo] Musashino Higashi Ctr Educ & Res, Musashino, Tokyo, Japan.
RP Kikuchi, Y (reprint author), Ibaraki Univ, Coll Educ, Bunkyo Ku, Mito, Ibaraki 3108512, Japan.
EM ykiku@mx.ibaraki.ac.jp
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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 0021-5368
J9 JPN PSYCHOL RES
JI Jpn. Psychol. Res.
PD APR
PY 2013
VL 55
IS 2
SI SI
BP 118
EP 130
DI 10.1111/jpr.12000
PG 13
WC Psychology, Multidisciplinary
SC Psychology
GA 123QN
UT WOS:000317405500003
ER
PT J
AU Kasai, T
Murohashi, H
AF Kasai, Tetsuko
Murohashi, Harumitsu
TI Global visual processing decreases with autistic-like traits: A study of
early lateralized potentials with spatial attention
SO JAPANESE PSYCHOLOGICAL RESEARCH
LA English
DT Article
DE autistic-like traits; autism; visual attention; perceptual organization;
event-related potential
ID OBJECT-BASED ATTENTION; PARTLY-OCCLUDED OBJECTS; SELECTIVE ATTENTION;
PERCEPTION; CORTEX; COMPLETION; SEARCH; ORGANIZATION; INTEGRATION;
DYNAMICS
AB Extensive research suggests that autistic individuals have deficits in global visual processing that may cause an attentional bias toward local details. This tendency has also been noted in nonclinical samples with high autistic-like traits, as measured using the autism-spectrum quotient (AQ). However, as top-down attention as an executive control can modulate early visual processing, it is still unclear whether this local processing bias is due to atypicality in bottom-up processing or a top-down attentional set. The present study explored this issue by examining event-related potentials (ERPs) in a sustained focal-attention task that involved bilateral stimulus arrays. In this task, a P1 spatial attention effect (at approximately 100150ms post-stimulus) reflects top-down attentional modulation of incoming sensory processing, and an N1 attention effect (150200ms) reflects obligatory attention-spreading based on perceptual grouping. The results showed that AQ scores were negatively correlated with the N1 attention effects for conditions in which bilateral stimuli were grouped with feature similarity and amodal completion. This finding supports the view that bottom-up processing in perceptual organization varies with autism spectrum.
C1 [Kasai, Tetsuko; Murohashi, Harumitsu] Hokkaido Univ, Sapporo, Hokkaido 0600811, Japan.
RP Kasai, T (reprint author), Hokkaido Univ, Fac Educ, Kita Ku, Sapporo, Hokkaido 0600811, Japan.
EM tetsu@edu.hokudai.ac.jp
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NR 56
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-5368
J9 JPN PSYCHOL RES
JI Jpn. Psychol. Res.
PD APR
PY 2013
VL 55
IS 2
SI SI
BP 131
EP 143
DI 10.1111/jpr.12014
PG 13
WC Psychology, Multidisciplinary
SC Psychology
GA 123QN
UT WOS:000317405500004
ER
PT J
AU Takahashi, H
Saito, C
Okada, H
Omori, T
AF Takahashi, Hideyuki
Saito, Chinatsu
Okada, Hiroyuki
Omori, Takashi
TI An investigation of social factors related to online mentalizing in a
human-robot competitive game
SO JAPANESE PSYCHOLOGICAL RESEARCH
LA English
DT Article
DE online mentalizing; matching pennies game; human-robot competitive game;
gaze following behavior
ID NEURAL BASIS; PREFRONTAL CORTEX; ASPERGER-SYNDROME; DECISION-MAKING;
AUTISM; MIND; ATTRIBUTION; CHILDREN; MIMICRY; ADULTS
AB Mentalizing is the ability to attribute mental states to other agents. The lack of online mentalizing, which is required in actual social contexts, may cause serious social disorders such as autism. However, the mechanism of online mentalizing is still unclear. In this study, we found that behavioral entropy (which indicates the randomness of decision making) was an efficient behavioral index for online mentalizing in a human-human competitive game. Further participants played the game with a humanoid robot; the results indicated that the entropy was significantly higher in participants whose gaze followed the robot's head turn than in those who did not, although the explicit human-likeness of the robot did not correlate with behavioral entropy. These results implied that mentalizing could be divided into two separate processes: an explicit, logical reasoning process and an implicit, intuitive process driven by perception of the other agent's gaze. We hypothesize that the latter is a core process for online mentalizing, and we argue that the social problems of autistic people are caused by dysfunction of this process.
C1 [Takahashi, Hideyuki; Saito, Chinatsu; Okada, Hiroyuki; Omori, Takashi] Tamagawa Univ, Machida, Tokyo 1948610, Japan.
RP Takahashi, H (reprint author), Tamagawa Univ, Brain Sci Inst, Machida, Tokyo 1948610, Japan.
EM hideman@lab.tamagawa.ac.jp
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NR 29
TC 4
Z9 4
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-5368
J9 JPN PSYCHOL RES
JI Jpn. Psychol. Res.
PD APR
PY 2013
VL 55
IS 2
SI SI
BP 144
EP 153
DI 10.1111/jpr.12007
PG 10
WC Psychology, Multidisciplinary
SC Psychology
GA 123QN
UT WOS:000317405500005
ER
PT J
AU Kozima, H
AF Kozima, Hideki
TI Cognitive granularity: A new perspective over autistic and non-autistic
styles of development
SO JAPANESE PSYCHOLOGICAL RESEARCH
LA English
DT Review
DE autism; prediction and control; minicolumn; cognitive style
ID CATEGORIES
AB Individuals with autism generally show better performance on operating physical objects than in communicating with people. However, we lack a plausible model of autism that explains why their physical and social capabilities develop in separate and unbalanced ways. This paper investigates this question from the viewpoint of cognitive granularity, which refers to the size of the basic elements operable in one's cognitive system. While it is constrained by one's perceptual and motor resolution, cognitive granularity determines the level of abstraction at which one can efficiently predict and control the physical and social world. Recent findings in autism research, including preference for causal predictability and abnormalities in neuroanatomical density, suggest that individuals with autism have finer cognitive granularity; they live in a different Umwelt from that which non-autistic people experience. The difference in cognitive granularity explains not only autistic individuals' unbalanced development as well as their difficulty in understanding others' minds, but also the spectrum of developmental styles in the entire population. Finally, from this unified perspective, we also discuss possible therapeutic interventions for autism.
C1 [Kozima, Hideki] Miyagi Univ, Taiwa, Miyagi 9813298, Japan.
RP Kozima, H (reprint author), Miyagi Univ, Dept Design Informat, Sch Project Design, Taiwa, Miyagi 9813298, Japan.
EM xkozima@myu.ac.jp
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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 0021-5368
J9 JPN PSYCHOL RES
JI Jpn. Psychol. Res.
PD APR
PY 2013
VL 55
IS 2
SI SI
BP 168
EP 174
DI 10.1111/jpr.12006
PG 7
WC Psychology, Multidisciplinary
SC Psychology
GA 123QN
UT WOS:000317405500007
ER
PT J
AU Toyomaki, A
Murohashi, H
AF Toyomaki, Atsuhito
Murohashi, Harumitsu
TI "Salience network" dysfunction hypothesis in autism spectrum disorders
SO JAPANESE PSYCHOLOGICAL RESEARCH
LA English
DT Review
DE autism spectrum disorder; salience network; executive control network;
default mode network
ID TORONTO-ALEXITHYMIA-SCALE; DEFAULT-MODE; PREFRONTAL CORTEX; FUNCTIONAL
CONNECTIVITY; EXECUTIVE CONTROL; EVOKED-RESPONSES; SENSORY PROFILE;
YOUNG-CHILDREN; HUMAN BRAIN; OSCILLATIONS
AB Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interaction and communication, as well as repetitive and stereotyped patterns of behavior. Although most patients with ASD show sensory abnormalities such as hyperesthesia and hypoesthesia, its relation to social cognition has not been well studied. Recently, a salience network (SN) dysfunction hypothesis of ASD has been proposed. This neuroscientific hypothesis might explain how a SN integrating external sensory stimuli with internal states mediates interactions between large-scale networks involved in externally and internally oriented cognitive processing. In the brain of patients with ASD, areas of the SN, including the anterior insula, become dysfunctional, which results in difficulty in operating social cognition and self-referential processing. Here we discuss the controversial points and future directions of this hypothesis.
C1 [Toyomaki, Atsuhito; Murohashi, Harumitsu] Hokkaido Univ, Sapporo, Hokkaido, Japan.
RP Toyomaki, A (reprint author), Hokkaido Univ, Dept Psychiat, Grad Sch Med, Kita Ku, Sapporo, Hokkaido, Japan.
EM toyomaki@med.hokudai.ac.jp
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NR 61
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-5368
J9 JPN PSYCHOL RES
JI Jpn. Psychol. Res.
PD APR
PY 2013
VL 55
IS 2
SI SI
BP 175
EP 185
DI 10.1111/jpr.12012
PG 11
WC Psychology, Multidisciplinary
SC Psychology
GA 123QN
UT WOS:000317405500008
ER
PT J
AU Scheiner, C
AF Scheiner, Cathy
TI Evidence-based Practices and Treatments for Children with Autism
SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
LA English
DT Book Review
C1 [Scheiner, Cathy] Childrens Natl Med Ctr, Washington, DC 20010 USA.
RP Scheiner, C (reprint author), Childrens Natl Med Ctr, Washington, DC 20010 USA.
CR Reichow B, 2011, EVIDENCE-BASED PRACTICES AND TREATMENTS FOR CHILDREN WITH AUTISM, P1, DOI 10.1007/978-1-4419-6975-0
NR 1
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0196-206X
J9 J DEV BEHAV PEDIATR
JI J. Dev. Behav. Pediatr.
PD APR
PY 2013
VL 34
IS 3
BP 215
EP 215
DI 10.1097/DBP.0b013e318289b0b6
PG 1
WC Behavioral Sciences; Psychology, Developmental; Pediatrics
SC Behavioral Sciences; Psychology; Pediatrics
GA 124RM
UT WOS:000317483400011
ER
PT J
AU Furmanski, O
Tao, F
Yang, Y
Li, C
Skinner, J
Bangash, A
Worley, P
Johns, R
AF Furmanski, O.
Tao, F.
Yang, Y.
Li, C.
Skinner, J.
Bangash, A.
Worley, P.
Johns, R.
TI Pain processing in a mouse model of Phelan-McDermid Syndrome, an autism
spectrum disorder
SO JOURNAL OF PAIN
LA English
DT Meeting Abstract
C1 [Furmanski, O.; Tao, F.; Yang, Y.; Li, C.; Skinner, J.; Bangash, A.; Worley, P.; Johns, R.] Johns Hopkins Univ, Sch Med, Baltimore, MD USA.
NR 0
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 1526-5900
J9 J PAIN
JI J. Pain
PD APR
PY 2013
VL 14
IS 4
SU 1
BP S43
EP S43
PG 1
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA 126RR
UT WOS:000317639400169
ER
PT J
AU Lees, HJ
Swann, JR
Wilson, ID
Nicholson, JK
Holmes, E
AF Lees, Hannah J.
Swann, Jonathan R.
Wilson, Ian D.
Nicholson, Jeremy K.
Holmes, Elaine
TI Hippurate: The Natural History of a Mammalian-Microbial Cometabolite
SO JOURNAL OF PROTEOME RESEARCH
LA English
DT Review
DE metabolic profiling; microbial metabolites; polyphenols; health
ID NUCLEAR-MAGNETIC-RESONANCE; INFLAMMATORY-BOWEL-DISEASE; PERFORMANCE
LIQUID-CHROMATOGRAPHY; ECHINOSTOMA-CAPRONI INFECTION; AUTISTIC SPECTRUM
DISORDERS; CAFFEIC ACID METABOLISM; RAT-LIVER MITOCHONDRIA; BLACK TEA
CONSUMPTION; RENAL TUBULAR DAMAGE; BENZOIC-ACID
AB Hippurate, the glycine conjugate of benzoic acid, is a normal constituent of the endogenous urinary metabolite profile and has long been associated with the microbial degradation of certain dietary components, hepatic function and toluene exposure, and is also commonly used as a measure of renal clearance. Here we discuss the potential relevance of hippurate excretion with regard to normal endogenous metabolism and trends in excretion relating to gender, age, and the intestinal microbiota. Additionally, the significance of hippurate excretion with respect to disease states including obesity, diabetes, gastrointestinal diseases, impaired renal function, psychological disorders and autism, as well as toxicity and parasitic infection, are considered.
C1 [Lees, Hannah J.; Wilson, Ian D.; Nicholson, Jeremy K.; Holmes, Elaine] Univ London Imperial Coll Sci Technol & Med, Fac Med, Dept Surg & Canc, London SW7 2AZ, England.
[Swann, Jonathan R.] Univ Reading, Sch Chem Food & Pharm, Dept Food & Nutr Sci, Reading RG6 6AP, Berks, England.
RP Holmes, E (reprint author), Univ London Imperial Coll Sci Technol & Med, Fac Med, Dept Surg & Canc, London SW7 2AZ, England.
EM elaine.holmes@imperial.ac.uk
RI Nicholson, Jeremy/B-3395-2012
OI Nicholson, Jeremy/0000-0002-8123-8349
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NR 233
TC 17
Z9 18
PU AMER CHEMICAL SOC
PI WASHINGTON
PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA
SN 1535-3893
EI 1535-3907
J9 J PROTEOME RES
JI J. Proteome Res.
PD APR
PY 2013
VL 12
IS 4
BP 1527
EP 1546
DI 10.1021/pr300900b
PG 20
WC Biochemical Research Methods
SC Biochemistry & Molecular Biology
GA 122ON
UT WOS:000317327500001
PM 23342949
ER
PT J
AU Shepherd, GMG
AF Shepherd, Gordon M. G.
TI Corticostriatal connectivity and its role in disease
SO NATURE REVIEWS NEUROSCIENCE
LA English
DT Review
ID AMYOTROPHIC-LATERAL-SCLEROSIS; OBSESSIVE-COMPULSIVE DISORDER; MOUSE
MOTOR CORTEX; PYRAMIDAL PROJECTION NEURONS; DEVELOPING CEREBRAL-CORTEX;
RECEPTOR TYROSINE KINASE; MEDIAL PREFRONTAL CORTEX; RANGE CORTICOFUGAL
AXONS; DEEP BRAIN-STIMULATION; RAT-ASSOCIATION CORTEX
AB I Corticostriatal projections are essential components of forebrain circuits and are widely involved in motivated behaviour. These axonal projections are formed by two distinct classes of cortical neurons, intratelencephalic (IT) and pyramidal tract (PT) neurons. Convergent evidence points to IT versus PT differentiation of the corticostriatal system at all levels of functional organization, from cellular signalling mechanisms to circuit topology. There is also growing evidence for IT/PT imbalance as an aetiological factor in neurodevetopmental, neuropsychiatric and movement disorders autism, amyotrophic lateral sclerosis, obsessive-compulsive disorder, schizophrenia, Huntington's and Parkinson's diseases and major depression are highlighted here.
C1 Northwestern Univ, Feinberg Sch Med, Dept Physiol, Chicago, IL 60611 USA.
RP Shepherd, GMG (reprint author), Northwestern Univ, Feinberg Sch Med, Dept Physiol, Chicago, IL 60611 USA.
EM g-shepherd@northwestem.edu
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NR 197
TC 54
Z9 55
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1471-003X
J9 NAT REV NEUROSCI
JI Nat. Rev. Neurosci.
PD APR
PY 2013
VL 14
IS 4
BP 278
EP 291
DI 10.1038/nrn3469
PG 14
WC Neurosciences
SC Neurosciences & Neurology
GA 121OE
UT WOS:000317253300010
PM 23511908
ER
PT J
AU Torres, EB
AF Torres, Elizabeth Barbara
TI Atypical signatures of motor variability found in an individual with ASD
SO NEUROCASE
LA English
DT Article
DE ASD case study; Goal-directed movements; Supplemental movements; motor
variability; Log-normal distribution; Exponential distribution
ID AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; ASPERGERS-DISORDER;
BASAL GANGLIA; CHILDREN; CEREBELLAR; MOTION; SYSTEM; BRAIN
AB We provide objective metrics of sequential movements and study a young adolescent with Autism Spectrum Disorders (ASD) in relation to novice typical controls (TC) as they learned to perform beginners' martialarts routines. We studied segments staged to hit an opponent simultaneously performed with supplemental segments. In TC instructed changes in speed had profound differential effects on the intended vs. supplemental segments that were absent in the ASD case. Moreover, the frequency-distribution of velocity and acceleration maxima in TC was well fitted by a Gamma distribution but in the ASD case the fit was exponential yielding uncannily precise motions with atypically low-range of spatio-temporal variability.
C1 [Torres, Elizabeth Barbara] Rutgers State Univ, Dept Psychol, Piscataway, NJ 08854 USA.
RP Torres, EB (reprint author), Rutgers State Univ, 152 Frelinghuysen Rd, Piscataway, NJ 08854 USA.
EM ebtorres@rci.rutgers.edu
RI McCann, Brian/N-9504-2014
FU NSF Cyber-Enabled Discovery and Innovation Type I (Idea) [0941587]; New
Jersey Governor's Council for Medical Research and Treatment of Autism
[10-403-SCH-E-0]
FX We thank Uri Yarmush, our Psychology undergraduate martial arts expert
who performed, instructed and supervised the routines in these motor
experiments. We thank Amy Hansdford and the personnel at the Douglass
Developmental Disability Center at Rutgers University for the clinical
evaluations. We thank Prof. Jorge V. Jose for technical guidance on
Statistical Mechanics and Dr. Robert W. Isenhower for useful comments.
This work was funded by the NSF Cyber-Enabled Discovery and Innovation
Type I (Idea) grant # 0941587 to EBT 'A novel quantitative framework to
study lack of social interactions in Autism Spectrum Disorders' and by
the New Jersey Governor's Council for Medical Research and Treatment of
Autism grant # 10-403-SCH-E-0 'Perceptual Motor Anticipation in ASD'.
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TC 1
Z9 1
PU FUTURE MEDICINE LTD
PI LONDON
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SN 1758-2008
J9 NEUROPSYCHIATRY-LOND
JI Neuropsychiatry
PD APR
PY 2013
VL 3
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BP 119
EP 122
DI 10.2217/NPY.13.17
PG 4
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 126QM
UT WOS:000317636300001
ER
PT J
AU Georgiades, S
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Szatmari, Peter
Boyle, Michael
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LA English
DT Editorial Material
C1 [Georgiades, Stelios; Szatmari, Peter; Boyle, Michael] McMaster Univ, Offord Ctr Child Studies, Hamilton, ON L8S 4L8, Canada.
RP Georgiades, S (reprint author), McMaster Univ, Offord Ctr Child Studies, Hamilton, ON L8S 4L8, Canada.
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TC 7
Z9 7
PU FUTURE MEDICINE LTD
PI LONDON
PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3
1QB, ENGLAND
SN 1758-2008
J9 NEUROPSYCHIATRY-LOND
JI Neuropsychiatry
PD APR
PY 2013
VL 3
IS 2
BP 123
EP 125
DI 10.2217/NPY.13.8
PG 3
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 126QM
UT WOS:000317636300002
ER
PT J
AU Mandy, W
AF Mandy, William
TI Upcoming changes to autism spectrum disorder: evaluating DSM-5
SO NEUROPSYCHIATRY
LA English
DT Editorial Material
ID CRITERIA; DIAGNOSIS; VALIDITY; CHILDREN
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RP Mandy, W (reprint author), UCL, Res Dept Clin Educ & Hlth Psychol, London, England.
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PI LONDON
PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3
1QB, ENGLAND
SN 1758-2008
J9 NEUROPSYCHIATRY-LOND
JI Neuropsychiatry
PD APR
PY 2013
VL 3
IS 2
BP 127
EP 130
DI 10.2217/NPY.13.15
PG 4
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 126QM
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PT J
AU Freeston, S
AF Freeston, Sarah
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LA English
DT News Item
CR [Anonymous], MED NEWS TODAY
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TC 0
Z9 0
PU FUTURE MEDICINE LTD
PI LONDON
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SN 1758-2008
J9 NEUROPSYCHIATRY-LOND
JI Neuropsychiatry
PD APR
PY 2013
VL 3
IS 2
BP 131
EP 132
PG 2
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 126QM
UT WOS:000317636300004
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PT J
AU Freeston, S
AF Freeston, Sarah
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with autism spectrum disorder
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LA English
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PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3
1QB, ENGLAND
SN 1758-2008
J9 NEUROPSYCHIATRY-LOND
JI Neuropsychiatry
PD APR
PY 2013
VL 3
IS 2
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EP 133
PG 2
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 126QM
UT WOS:000317636300005
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PT J
AU Freeston, S
AF Freeston, Sarah
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genetic link
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LA English
DT News Item
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TC 0
Z9 0
PU FUTURE MEDICINE LTD
PI LONDON
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SN 1758-2008
J9 NEUROPSYCHIATRY-LOND
JI Neuropsychiatry
PD APR
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VL 3
IS 2
BP 133
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PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 126QM
UT WOS:000317636300006
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PT J
AU Freeston, S
AF Freeston, Sarah
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LA English
DT News Item
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TC 0
Z9 0
PU FUTURE MEDICINE LTD
PI LONDON
PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3
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SN 1758-2008
J9 NEUROPSYCHIATRY-LOND
JI Neuropsychiatry
PD APR
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WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 126QM
UT WOS:000317636300007
ER
PT J
AU Dawson, G
AF Dawson, Geraldine
TI A career devoted to improving the lives of people with autism
SO NEUROPSYCHIATRY
LA English
DT Editorial Material
ID SPECTRUM DISORDER; HOME VIDEOTAPES; CHILDREN; RECOGNITION; FACES
C1 Univ N Carolina, Chapel Hill, NC 27599 USA.
RP Dawson, G (reprint author), Univ N Carolina, 209 South Rd, Chapel Hill, NC 27599 USA.
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NR 14
TC 1
Z9 1
PU FUTURE MEDICINE LTD
PI LONDON
PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3
1QB, ENGLAND
SN 1758-2008
J9 NEUROPSYCHIATRY-LOND
JI Neuropsychiatry
PD APR
PY 2013
VL 3
IS 2
BP 139
EP 145
DI 10.2217/NPY.13.10
PG 7
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 126QM
UT WOS:000317636300008
ER
PT J
AU Ung, D
Wood, JJ
Ehrenreich-May, J
Arnold, EB
Fujii, C
Renno, P
Murphy, TK
Lewin, AB
Mutch, PJ
Storch, EA
AF Ung, Danielle
Wood, Jeffrey J.
Ehrenreich-May, Jill
Arnold, Elysse B.
Fujii, Cori
Renno, Patricia
Murphy, Tanya K.
Lewin, Adam B.
Mutch, P. Jane
Storch, Eric A.
TI Clinical characteristics of high-functioning youth with autism spectrum
disorder and anxiety
SO NEUROPSYCHIATRY
LA English
DT Article
ID OBSESSIVE-COMPULSIVE DISORDER; COGNITIVE-BEHAVIORAL THERAPY; SENSORY
OVER-RESPONSIVITY; PSYCHIATRIC-DISORDERS; INTERVIEW SCHEDULE;
CONTROLLED-TRIAL; CHILDREN; ADOLESCENTS; ASSOCIATION; PHENOMENOLOGY
AB Aim & methods: Clinical characteristics were examined in 108 high-functioning youth (children with a full IQ scale of at least 70) with an autism spectrum disorder (ASD; aged 7-15 years) who were presenting for inclusion in one of four clinical trials examining the efficacy of cognitive behavioral therapy in youth with ASD and anxiety. Results: We present baseline characteristics of this cohort, including prevalence rates of anxiety and comorbid disorders, and correlates of anxiety (e.g., comorbid diagnoses, impairment, anxiety severity and mental health services received) as a function of age and ASD diagnosis in treatment-seeking youth. Primary anxiety disorders were: 41.7% (n = 45) social phobia, 25.9% (n = 28) generalized anxiety disorder, 15.7% (n = 17) separation anxiety disorder, 12.0% (n = 13) obsessive compulsive disorder and 4.6% (n = 5) specific phobia. Overall, 91.6% of participants (n = 99) met criteria for two or more anxiety disorders. Parents reported considerable functional impairment as measured by the Columbia Impairment Scale and anxiety severity as measured by the Pediatric Anxiety Rating Scale; this did not statistically differ as a function of ASD diagnosis or age. Anxiety severity, the number of comorbid anxiety diagnoses and total comorbid diagnoses were directly associated with parent-reported child impairment. Youth with ASD and anxiety present as a heterogeneous cohort with significant impairments and complex diagnostic presentations. Conclusion: These data provide information about the nature of anxiety in youth with ASD, which may foster the development of tailored treatment protocols.
C1 [Ung, Danielle; Storch, Eric A.] Univ S Florida, Dept Psychol, Tampa, FL 33620 USA.
[Ung, Danielle; Arnold, Elysse B.; Murphy, Tanya K.; Lewin, Adam B.; Mutch, P. Jane; Storch, Eric A.] Univ S Florida, Dept Pediat, St Petersburg, FL 33701 USA.
[Wood, Jeffrey J.; Fujii, Cori; Renno, Patricia] Univ Calif Los Angeles, Dept Educ, Los Angeles, CA 90095 USA.
[Wood, Jeffrey J.; Fujii, Cori; Renno, Patricia] Univ Calif Los Angeles, Dept Psychiat, Los Angeles, CA 90095 USA.
[Wood, Jeffrey J.; Fujii, Cori; Renno, Patricia] Univ Calif Los Angeles, Dept Biobehav Sci, Los Angeles, CA 90095 USA.
[Ehrenreich-May, Jill] Univ Miami, Dept Psychol, Coral Gables, FL 33124 USA.
[Murphy, Tanya K.; Lewin, Adam B.; Mutch, P. Jane; Storch, Eric A.] Dept Psychiat, Tampa, FL 33613 USA.
[Murphy, Tanya K.; Lewin, Adam B.; Mutch, P. Jane; Storch, Eric A.] Dept Behav Neurosci, Tampa, FL 33613 USA.
RP Storch, EA (reprint author), Univ S Florida, Dept Psychol, 4202 East Fowler Ave,PCD 4118G, Tampa, FL 33620 USA.
EM estorch@health.usf.edu
FU NIH [1R34HD065274-01, 5R34HD065274-02]; All Children Hospital Research
Foundation; University of South Florida (FL, USA); CDC; Agency for
Healthcare Research and Quality; National Alliance for Research on
Schizophrenia and Affective Disorders; International OCD Foundation;
Tourette Syndrome Association; Janssen Pharmaceuticals; Foundation for
Research on Prader Willi Syndrome; University of South Florida Research
Council; Joseph Drown Foundation; Forest Laboratories; All Children's
Hospital Research Foundation; Shire; Transcept Pharmaceuticals Inc.;
Maurice; Thelma Rothman Endowed Chair
FX These studies were supported by grants awarded to EA Storch from the NIH
(1R34HD065274-01), All Children Hospital Research Foundation and the
University of South Florida (FL, USA) Internal Grants Program, and
grants to JJ Wood and J Ehrenreich-May from the NIH (5R34HD065274-02).
EA Storch has received grant funding in the last 3 years from the NIH,
All Children's Hospital Research Foundation, CDC, Agency for Healthcare
Research and Quality, National Alliance for Research on Schizophrenia
and Affective Disorders, International OCD Foundation, Tourette Syndrome
Association, Janssen Pharmaceuticals and Foundation for Research on
Prader Willi Syndrome. EA Storch receives textbook honorarium from
Springer publishers, American Psychological Association and Lawrence
Erlbaum. EA Storch has been an educational consultant for Rogers
Memorial Hospital, a consultant for Prophase Inc. and CroNos Inc., and
is on the Speaker's Bureau and Scientific Advisory Board for the
International OCD Foundation. J Ehrenreich-May receives grant funding
from the NIH. JJ Wood receives grant funding from the NIH. AB Lewin
receives grant funding from the University of South Florida Research
Council, NIH, Agency for Healthcare Research and Quality, CDC, National
Alliance for Research on Schizophrenia and Affective Disorders, Joseph
Drown Foundation and International OCD Foundation. AB Lewin is a
consultant for Prophase Inc. and has received speaker's honorariums from
the Tourettes Syndrome Association. TK Murphy has received research
support in the past 3 years from NIH, Forest Laboratories, Janssen
Pharmaceuticals, International OCD Foundation, Tourette Syndrome
Association, All Children's Hospital Research Foundation, CDC, Shire,
Transcept Pharmaceuticals Inc., and National Alliance for Research on
Schizophrenia and Affective Disorders. TK Murphy is on the Medical
Advisory Board for Tourette Syndrome Association and Scientific Advisory
Board for International OCD Foundation. TK Murphy receives textbook
honorarium from Lawrence Erlbaum, and research support from the Maurice
and Thelma Rothman Endowed Chair. 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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Wood JJ, 2009, J CHILD PSYCHOL PSYC, V50, P224, DOI 10.1111/j.1469-7610.2008.01948.x
Wood JJ, 2010, CLIN PSYCHOL-SCI PR, V17, P281, DOI 10.1111/j.1468-2850.2010.01220.x
Wood JW, 2002, TLS-TIMES LIT SUPPL, P31
NR 49
TC 5
Z9 5
PU FUTURE MEDICINE LTD
PI LONDON
PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3
1QB, ENGLAND
SN 1758-2008
J9 NEUROPSYCHIATRY-LOND
JI Neuropsychiatry
PD APR
PY 2013
VL 3
IS 2
BP 147
EP 157
DI 10.2217/NPY.13.9
PG 11
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 126QM
UT WOS:000317636300009
ER
PT J
AU Bauman, MD
Schumann, CM
AF Bauman, Melissa D.
Schumann, Cynthia M.
TI Is 'bench-to-bedside' realistic for autism? An integrative neuroscience
approach
SO NEUROPSYCHIATRY
LA English
DT Article
ID DORSOLATERAL PREFRONTAL CORTEX; FETAL-BRAIN PROTEINS; BTBR MOUSE MODEL;
SPECTRUM DISORDERS; MATERNAL AUTOANTIBODIES; YOUNG-CHILDREN; ANTIBODIES;
AMYGDALA; ACTIVATION; OXYTOCIN
AB Given the prevalence and societal impact of autism spectrum disorder (ASD), there is an urgent need to develop innovative treatments that will improve core social deficits, for which there is currently no reliable pharmacological treatment, prevention or cure. Development of novel biological interventions will depend upon the successful translation of basic neuroscience research into safe and effective medicines. This article outlines steps to bring neuroscience research from 'the bench' to treatment at 'bedside', from phenotyping the disorder to animal models to patient treatment. Although these steps appear simplistic, this is a daunting challenge because of the inherent complexity of the human brain, our lack of understanding of disease neurobiology underlying ASD, and the incredible heterogeneity of the disorder. For ASD, perhaps more than any other neurological or psychiatric disorder, progress will depend on integrative multidisciplinary approaches between basic scientists from varying neuroscience disciplines and clinicians to make 'bench to bedside' treatment a reality.
C1 [Bauman, Melissa D.; Schumann, Cynthia M.] Univ Calif Davis, Dept Psychiat & Behav Sci, Davis, CA 95616 USA.
[Bauman, Melissa D.; Schumann, Cynthia M.] Univ Calif Davis, MIND Inst, Sacramento, CA 95817 USA.
RP Schumann, CM (reprint author), Univ Calif Davis, Dept Psychiat & Behav Sci, Davis, CA 95616 USA.
EM cschumann@ucdavis.edu
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NR 81
TC 2
Z9 2
PU FUTURE MEDICINE LTD
PI LONDON
PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3
1QB, ENGLAND
SN 1758-2008
J9 NEUROPSYCHIATRY-LOND
JI Neuropsychiatry
PD APR
PY 2013
VL 3
IS 2
BP 159
EP 168
DI 10.2217/NPY.13.18
PG 10
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 126QM
UT WOS:000317636300010
ER
PT J
AU Bearss, K
Lecavalier, L
Minshawi, N
Johnson, C
Smith, T
Handen, B
Sukhodolsky, DG
Aman, MG
Swiezy, N
Butter, E
Scahill, L
AF Bearss, Karen
Lecavalier, Luc
Minshawi, Noha
Johnson, Cynthia
Smith, Tristram
Handen, Benjamin
Sukhodolsky, Denis G.
Aman, Michael G.
Swiezy, Naomi
Butter, Eric
Scahill, Lawrence
TI Toward an exportable parent training program for disruptive behaviors in
autism spectrum disorder
SO NEUROPSYCHIATRY
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; RANDOMIZED CONTROLLED-TRIAL;
YOUNG-CHILDREN; PSYCHOSOCIAL INTERVENTIONS; EMOTIONAL-PROBLEMS;
ADAPTIVE-BEHAVIOR; MENTAL-HEALTH; PREVALENCE; CHECKLIST; TODDLERS
AB Autism spectrum disorder (ASD) is a condition of early childhood onset characterized by profound deficits in social interaction, impaired communication and repetitive behavior. The prevalence of ASD is now estimated to be one in 100 children. As the number of identified cases of ASD has grown, so have the challenges of serving these children and their families. Unfortunately, the empirical foundation for many interventions for this population is not firmly established. Thus, there is a pressing need to conduct trials that will expand the evidence base and guide clinical treatment. Investigators from the Research Units in Pediatric Psychopharmacology (RUPP; Indiana University, IN, USA; Ohio State University, OH, USA; University of Pittsburgh, PA, USA; and Yale University, CT, USA) followed a treatment development model outlined by an National Institute of Mental Health ad hoc committee to develop and test a parent training treatment manual for children with ASD accompanied by disruptive behavior problems. This article describes the process of manual development and cross-site therapist training, establishment and maintenance of treatment integrity, assessment of treatment acceptance by families as well as primary outcomes of three trials. Results suggest the structured parent training program can be delivered with a high degree of fidelity within and across therapists, is acceptable to parents and can produce significant reductions in disruptive behaviors in children with ASD.
C1 [Bearss, Karen; Scahill, Lawrence] Emory Univ, Sch Med, Dept Pediat, Marcus Autism Ctr,Childrens Healthcare Atlanta, Atlanta, GA 30329 USA.
[Lecavalier, Luc] Ohio State Univ, UCEDD, Nisonger Ctr, Columbus, OH 43210 USA.
[Minshawi, Noha; Swiezy, Naomi] Indiana Univ Sch Med, James Whitcomb Riley Hosp Children, Indianapolis, IN 46202 USA.
[Johnson, Cynthia] Univ Pittsburgh, Sch Med, Dept Pediat, Pittsburgh, PA 15213 USA.
[Smith, Tristram] Univ Rochester, Med Ctr, Div Neurodev & Behav Pediat, Strong Ctr Dev Disabil,Dept Pediat, Rochester, NY 14642 USA.
[Handen, Benjamin] Univ Pittsburgh, Sch Med, Western Psychiat Inst & Clin, Merck Child Outpatient Program, Pittsburgh, PA 15203 USA.
[Sukhodolsky, Denis G.] Yale Univ, Ctr Child Study, New Haven, CT 06520 USA.
[Aman, Michael G.] Ohio State Univ, Nisonger Ctr UCEDD, Columbus, OH 43210 USA.
[Butter, Eric] Nationwide Childrens Hosp, Westerville, OH 43081 USA.
RP Bearss, K (reprint author), Emory Univ, Sch Med, Dept Pediat, Marcus Autism Ctr,Childrens Healthcare Atlanta, 1920 Briarcliff Rd NE, Atlanta, GA 30329 USA.
EM karen.bearss@emory.edu
RI sebastianovitsch, stepan/G-8507-2013
FU National Institute of Mental Health (NIMH) [U10MH66768, U10MH66766,
U10MH66764]; Clinical and Translational Scholar Award (CTSA) from
National Center for Research Resources (NCRR), a component of the NIH
[UL1 RR024139, 5KL2RR024138]; NIH roadmap for Medical Research
FX The authors were supported by the following cooperative agreement grants
from the National Institute of Mental Health (NIMH): U10MH66768
(principal invesigator: M Aman), U10MH66766 (principal invesigator: C
McDougle) and U10MH66764 (principal invesigator: L Scahill). This
publication was also made possible by a Clinical and Translational
Scholar Award (CTSA) Grant Number UL1 RR024139 and 5KL2RR024138 from the
National Center for Research Resources (NCRR), a component of the NIH,
and NIH roadmap for Medical Research. 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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NR 62
TC 4
Z9 5
PU FUTURE MEDICINE LTD
PI LONDON
PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3
1QB, ENGLAND
SN 1758-2008
EI 1758-2016
J9 NEUROPSYCHIATRY-LOND
JI Neuropsychiatry
PD APR
PY 2013
VL 3
IS 2
BP 169
EP 180
DI 10.2217/NPY.13.14
PG 12
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 126QM
UT WOS:000317636300011
ER
PT J
AU Friedman, NDB
Warfield, ME
Parish, SL
AF Friedman, Nora D. B.
Warfield, Marji Erickson
Parish, Susan L.
TI Transition to adulthood for individuals with autism spectrum disorder:
current issues and future perspectives
SO NEUROPSYCHIATRY
LA English
DT Article
ID HIGH-FUNCTIONING CHILDREN; SELF-INJURIOUS-BEHAVIOR; HEALTH-CARE
TRANSITION; DEVELOPMENTAL-DISABILITIES; ASPERGER-SYNDROME;
NATIONAL-SURVEY; SOCIAL-INTERACTION; FINANCIAL BURDEN; ADOLESCENT BOYS;
UNITED-STATES
AB Rising autism prevalence rates have lent urgency to efforts to improve outcomes for individuals with autism spectrum disorder (ASD). Stakeholders have focused, in particular, on the transition to adulthood that can occur over a range of ages, typically between 18 and 22 years, and often corresponding to when the youth finishes secondary school. This represents a particularly vulnerable time, as the entitlements of the children's service system end and young adults with ASD and their families encounter fragmented and underfunded systems of care. Research across multiple domains education, vocational training and employment, social support and community involvement, housing and healthcare reveals poor outcomes for this population during the transition to adulthood, suggesting that the current models of school-based transition planning are not meeting the needs of youth with ASD. This article highlights findings from some of this literature, examines financial aspects of the transition process, and offers our perspectives on current practices and recommendations for future study. An organized program of research coupled with aggressive policy and service system changes are needed to achieve more favorable transition outcomes for the ASD population.
C1 [Friedman, Nora D. B.] Harvard Univ, Sch Med, Dept Psychiat, Massachusetts Gen Hosp Children, Boston, MA 02115 USA.
[Friedman, Nora D. B.] Lurie Ctr Autism, Lexington, MA 02421 USA.
[Warfield, Marji Erickson] Brandeis Univ, Heller Sch Social Policy & Management, Starr Ctr Intellectual & Dev Disabil, Waltham, MA USA.
[Parish, Susan L.] Brandeis Univ, Heller Sch Social Policy & Management, Lurie Inst Disabil Policy, Waltham, MA USA.
RP Friedman, NDB (reprint author), Harvard Univ, Sch Med, Dept Psychiat, Massachusetts Gen Hosp Children, Boston, MA 02115 USA.
EM ndfriedman@partners.org
FU Lurie Institute for Disability Policy at Brandeis University
FX SL Parish was supported by the Lurie Institute for Disability Policy at
Brandeis University. 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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NR 108
TC 6
Z9 6
PU FUTURE MEDICINE LTD
PI LONDON
PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3
1QB, ENGLAND
SN 1758-2008
J9 NEUROPSYCHIATRY-LOND
JI Neuropsychiatry
PD APR
PY 2013
VL 3
IS 2
BP 181
EP 192
DI 10.2217/NPY.13.13
PG 12
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 126QM
UT WOS:000317636300012
ER
PT J
AU Mehta, SQ
Nurmi, EL
AF Mehta, Sunil Q.
Nurmi, Erika L.
TI Genetic pathways to autism spectrum disorders
SO NEUROPSYCHIATRY
LA English
DT Review
ID DE-NOVO MUTATIONS; COPY-NUMBER VARIATION; PERVASIVE DEVELOPMENTAL
DISORDERS; TUBEROUS SCLEROSIS COMPLEX; FRAGILE-X-SYNDROME;
MENTAL-RETARDATION; DELETION SYNDROME; GENOMEWIDE SCREEN; BEHAVIORAL
CHARACTERIZATION; NEURODEVELOPMENTAL GENES
AB Over the past several decades, progress in understanding the genetic basis of autism spectrum disorder (ASD) has dramatically altered our conception of its genetic architecture. Once believed to be an oligogenic disorder of common susceptibility variants, autism is now considered to be a collection of distinct 'autisms' marked by profound genetic heterogeneity. While twin and family studies have demonstrated a strong genetic etiology, genome-wide linkage and association studies have been limited by the extreme underlying heterogeneity. Genome-wide association studies have identified a few variants with small effects on ASD risk, but no common variants that clearly explain the few replicated linkage signals have been identified, suggesting that common variation is unlikely to play a central role. Recent successes in characterizing genetic risk have been driven by technological advances permitting the identification of de novo variants, both single-nucleotide variants and copy number variants, occurring in sporadic autism. The power to detect modest, rare inherited effects has been achieved through growing sample sizes through large collaborations; however, the inherited risk of ASD remains largely uncharted. Several hundred risk genes for ASD have been proposed, many linked via shared physiologic pathways. While many investigators now estimate that the number of autism risk genes will reach the thousands, pathway analysis will facilitate the understanding of ASD pathophysiology, the identification of novel risk genes and the development of clinically actionable targets. Molecular diagnosis has become possible for many ASD subtypes and will continue to expand. Targeted interventions will be developed and individualized based on diagnostic data and the growing appreciation of the biology of autism.
C1 [Mehta, Sunil Q.; Nurmi, Erika L.] Univ Calif Los Angeles, David Geffen Sch Med, UCLA Semel Inst Neurosci & Human Behav, Div Child & Adolescent Psychiat,Dept Psychiat & B, Los Angeles, CA 90095 USA.
RP Nurmi, EL (reprint author), Univ Calif Los Angeles, David Geffen Sch Med, UCLA Semel Inst Neurosci & Human Behav, Div Child & Adolescent Psychiat,Dept Psychiat & B, Los Angeles, CA 90095 USA.
EM enurmi@ucla.edu
RI Nurmi, Erika/P-4627-2014
OI Nurmi, Erika/0000-0003-4893-8957
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NR 178
TC 2
Z9 2
PU FUTURE MEDICINE LTD
PI LONDON
PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3
1QB, ENGLAND
SN 1758-2008
EI 1758-2016
J9 NEUROPSYCHIATRY-LOND
JI Neuropsychiatry
PD APR
PY 2013
VL 3
IS 2
BP 193
EP 207
DI 10.2217/NPY.13.16
PG 15
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 126QM
UT WOS:000317636300013
ER
PT J
AU Wolff, JJ
Piven, J
AF Wolff, Jason J.
Piven, Joseph
TI On the emergence of autism: neuroimaging findings from birth to
preschool
SO NEUROPSYCHIATRY
LA English
DT Review
ID FRAGILE-X-SYNDROME; FUNCTIONAL CONNECTIVITY MRI; HUMAN
BRAIN-DEVELOPMENT; DE-NOVO MUTATIONS; AGE 2 YEARS; SPECTRUM DISORDER;
HEAD CIRCUMFERENCE; EARLY-CHILDHOOD; GRAY-MATTER; DEFAULT NETWORK
AB By definition, autism spectrum disorder (ASD) emerges early in life. Core clinical symptoms generally appear after a child's first birthday, and most children receive a diagnosis by the age of 4 years. This relatively narrow window of birth to age of onset affords the opportunity to chart the neurodevelopmental processes that give rise to ASD. Although much remains unknown, magnetic resonance brain imaging studies centered around the emergence of the disorder have yielded important clues about its pathogenesis. Prominent findings include evidence of increased cortical gray and white matter volumes, increased amygdala volumes, aberrant structural and functional connectivity, and atypical neurodevelopmental trajectories. Findings to date suggest a disrupted pattern of early brain development during an interval typically characterized by dramatic experience-dependent neurobehavioral development. Developmentally informed neuroimaging studies of ASD have the potential to improve our knowledge pertaining to etiology and early intervention.
C1 [Wolff, Jason J.; Piven, Joseph] Univ N Carolina, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA.
[Wolff, Jason J.; Piven, Joseph] Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA.
RP Wolff, JJ (reprint author), Univ N Carolina, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA.
EM jason.wolff@cidd.unc.edu
FU Autism Center of Excellence Network from NIH [HD055741]
FX This work was supported in part by an Autism Center of Excellence
Network grant to J Piven from the NIH (HD055741). 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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NR 103
TC 4
Z9 4
PU FUTURE MEDICINE LTD
PI LONDON
PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3
1QB, ENGLAND
SN 1758-2008
EI 1758-2016
J9 NEUROPSYCHIATRY-LOND
JI Neuropsychiatry
PD APR
PY 2013
VL 3
IS 2
BP 209
EP 222
DI 10.2217/NPY.13.11
PG 14
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 126QM
UT WOS:000317636300014
ER
PT J
AU Mody, M
Manoach, DS
Guenther, FH
Kenet, T
Bruno, KA
McDougle, CJ
Stigler, KA
AF Mody, Maria
Manoach, Dara S.
Guenther, Frank H.
Kenet, Tal
Bruno, Katelyn A.
McDougle, Christopher J.
Stigler, Kimberly Ann
TI Speech and language in autism spectrum disorder: a view through the lens
of behavior and brain imaging
SO NEUROPSYCHIATRY
LA English
DT Review
ID HIGH-FUNCTIONING AUTISM; WHITE-MATTER; RIGHT-HEMISPHERE; SENTENCE
COMPREHENSION; CORTICAL ACTIVATION; AUDITORY LANGUAGE; EARLY
RECOGNITION; EARLY-CHILDHOOD; MISMATCH FIELD; COMPLEX SOUNDS
AB Numerous studies have examined the brain bases of autism; few, however, have specifically examined the neurobiology of speech and language impairments in children and adults on the spectrum, especially those characterized as low functioning or minimally verbal, due to compliance issues. With exciting new advances in the development of paradigms and tools, and the ability to image children at risk for autism as young as 6 months of age, functional neuroimaging (EEG, magnetoencephalography and functional MRI) holds tremendous promise. Findings of reduced activation and structural and functional connectivity in the language network, together with deficits in social reciprocity and motivation, and a preference for visual over verbal information, appear to be carving out a neurobiological profile for the impaired social communication brain in autism.
C1 [Mody, Maria] Massachusetts Gen Hosp, Dept Radiol, Charlestown, MA 02129 USA.
[Mody, Maria] Athinoula A Martinos Ctr Biomed Imaging, Charlestown, MA 02129 USA.
[Mody, Maria] Lurie Ctr Autism, Charlestown, MA 02129 USA.
[Mody, Maria; Manoach, Dara S.; Kenet, Tal] Harvard Univ, Sch Med, Charlestown, MA 02129 USA.
[Manoach, Dara S.] Massachusetts Gen Hosp, Dept Psychiat, Charlestown, MA 02129 USA.
[Manoach, Dara S.; Kenet, Tal] Massachusetts Gen Hosp, Athinoula A Martinos Ctr Biomed Imaging, Charlestown, MA 02129 USA.
[Guenther, Frank H.] Boston Univ, Dept Speech Language & Hearing Sci, Boston, MA 02215 USA.
[Guenther, Frank H.] Boston Univ, Dept Biomed Engn, Boston, MA 02215 USA.
[Kenet, Tal] Massachusetts Gen Hosp, Dept Neurol, Charlestown, MA 02129 USA.
[Bruno, Katelyn A.] Spaulding Rehabil Hosp, Lurie Ctr Autism, Lexington, MA 02421 USA.
[Bruno, Katelyn A.] Massachusetts Gen Hosp Children, Lexington, MA 02421 USA.
[McDougle, Christopher J.] Massachusetts Gen Hosp Children, Dept Psychiat, Lexington, MA 02421 USA.
[McDougle, Christopher J.] Massachusetts Gen Hosp Children, Dept Pediat, Lexington, MA 02421 USA.
[McDougle, Christopher J.] Massachusetts Gen Hosp Children, Lurie Ctr Autism, Lexington, MA 02421 USA.
[McDougle, Christopher J.] Massachusetts Gen Hosp, Lexington, MA 02421 USA.
[McDougle, Christopher J.] Harvard Univ, Sch Med, Lexington, MA 02421 USA.
[Stigler, Kimberly Ann] Indiana Univ Sch Med, James Whitcomb Riley Hosp Children, Dept Psychiat, Indianapolis, IN 46202 USA.
RP Mody, M (reprint author), Massachusetts Gen Hosp, Dept Radiol, 149 13th St,CNY 2301, Charlestown, MA 02129 USA.
EM maria@nmr.mgh.harvard.edu
FU Bristol-Myers Squibb Co.; Eli Lilly Co.; Forest Research Institute;
Janssen; Novartis; Seaside Therapeutics; SynapDx
FX KA Stigler receives research support from Bristol-Myers Squibb Co., Eli
Lilly & Co., Forest Research Institute, Janssen, Novartis, Seaside
Therapeutics and SynapDx. 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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NR 126
TC 3
Z9 3
PU FUTURE MEDICINE LTD
PI LONDON
PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3
1QB, ENGLAND
SN 1758-2008
J9 NEUROPSYCHIATRY-LOND
JI Neuropsychiatry
PD APR
PY 2013
VL 3
IS 2
BP 223
EP 232
DI 10.2217/NPY.13.19
PG 10
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 126QM
UT WOS:000317636300015
ER
PT J
AU Matson, JL
Williams, LW
AF Matson, Johnny L.
Williams, Lindsey W.
TI Differential diagnosis and comorbidity: distinguishing autism from other
mental health issues
SO NEUROPSYCHIATRY
LA English
DT Review
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; PERVASIVE DEVELOPMENTAL
DISORDER; DEFICIT HYPERACTIVITY DISORDER; SPECTRUM DISORDERS;
PSYCHIATRIC-DISORDERS; CHALLENGING BEHAVIORS; INTELLECTUAL DISABILITY;
ANXIETY DISORDERS; ASPERGER-SYNDROME; CHILDREN
AB Comorbid autism spectrum disorder (ASD) and other mental health conditions are common. However, the recognition and study of this clinical issue is of recent origin. It has recently emerged that certain disorders are more likely to occur with ASD, such as ADHD, depression, anxiety and conduct disorder/challenging behaviors. Developmental factors are significant in that, while ASD presents at a very early age, this is not often the case with the co-occurring disorders noted above. The clinician should be aware of and plan for these potential concerns. Tests that are specifically designed to assess for comorbid mental health issues among persons with ASD are being developed. These methods are recommended given what we know about high rates of comorbidity in this emerging field.
C1 [Matson, Johnny L.; Williams, Lindsey W.] Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
RP Matson, JL (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM johnmatson@aol.com
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NR 79
TC 3
Z9 3
PU FUTURE MEDICINE LTD
PI LONDON
PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3
1QB, ENGLAND
SN 1758-2008
J9 NEUROPSYCHIATRY-LOND
JI Neuropsychiatry
PD APR
PY 2013
VL 3
IS 2
BP 233
EP 243
DI 10.2217/NPY.13.1
PG 11
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 126QM
UT WOS:000317636300016
ER
PT J
AU Vahabzadeh, A
Buxton, D
McDougle, CJ
Stigler, KA
AF Vahabzadeh, Arshya
Buxton, David
McDougle, Christopher J.
Stigler, Kimberly A.
TI Current state and future prospects of pharmacological interventions for
autism
SO NEUROPSYCHIATRY
LA English
DT Review
ID PERVASIVE DEVELOPMENTAL DISORDERS; OPEN-LABEL TRIAL; PLACEBO-CONTROLLED
TRIAL; DEFICIT HYPERACTIVITY DISORDER; PSYCHOTROPIC MEDICATION USE;
SELF-INJURIOUS-BEHAVIOR; SPECTRUM DISORDERS; DOUBLE-BLIND;
D-CYCLOSERINE; YOUNG-ADULTS
AB Autism spectrum disorder (ASD) is a group of heterogeneous developmental disorders manifesting in early childhood. They are associated with a range of core and associated symptoms, including repetitive behaviors, hyperactivity and irritability. This review will describe the current evidence for psychopharmacological management of individuals with ASD. Additionally, some of the future treatment prospects will be discussed. Safety issues, adverse effects and limitations of the current literature will also be highlighted.
C1 [Vahabzadeh, Arshya] Emory Univ, Sch Med, Dept Psychiat & Behav Sci, Atlanta, GA USA.
[Buxton, David] Harvard Univ, Sch Med, Dept Psychiat, Massachusetts Gen Hosp, Boston, MA 02115 USA.
[McDougle, Christopher J.] Harvard Univ, Sch Med, Dept Psychiat, Boston, MA 02115 USA.
[McDougle, Christopher J.] Massachusetts Gen Hosp, Lurie Ctr Autism, Boston, MA 02114 USA.
[Stigler, Kimberly A.] Indiana Univ Sch Med, Dept Psychiat, Indianapolis, IN USA.
[Stigler, Kimberly A.] James Whitcomb Riley Hosp Children, Indianapolis, IN 46202 USA.
RP Stigler, KA (reprint author), Indiana Univ Sch Med, Dept Psychiat, Indianapolis, IN USA.
EM kstigler@iupui.edu
FU Bristol-Myers Squibb Co.; Eli Lilly Co.; Forest Research Institute;
Janssen; Novartis; Seaside Therapeutics; SynapDx
FX KA Stigler receives research support from Bristol-Myers Squibb Co., Eli
Lilly & Co., Forest Research Institute, Janssen, Novartis, Seaside
Therapeutics and SynapDx. 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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NR 94
TC 1
Z9 1
PU FUTURE MEDICINE LTD
PI LONDON
PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3
1QB, ENGLAND
SN 1758-2008
J9 NEUROPSYCHIATRY-LOND
JI Neuropsychiatry
PD APR
PY 2013
VL 3
IS 2
BP 245
EP 259
DI 10.2217/NPY.13.22
PG 15
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 126QM
UT WOS:000317636300017
ER
PT J
AU An, JH
Hodge, SR
AF An, Jihoun
Hodge, Samuel R.
TI Exploring the Meaning of Parental Involvement in Physical Education for
Students With Developmental Disabilities
SO ADAPTED PHYSICAL ACTIVITY QUARTERLY
LA English
DT Article
DE Autism Spectrum Disorder; children with disabilities; Down syndrome;
phenomenology; qualitative research
ID PERSPECTIVES
AB The purpose of this phenomenological inquiry was to explore the experiences and meaning of parental involvement in physical education from the perspectives of the parents of students with developmental disabilities. The stories of four mothers of elementary aged children (3 boys, 1 girl), two mothers and one couple (mother and father) of secondary-aged youth (1 girl, 2 boys) with developmental disabilities, were gathered by using interviews, photographs, school documents, and the. researcher's journal. Bronfenbrenner's (2005) ecological system theory provided a conceptual framework to interpret the findings of this inquiry. Three themes emerged from thematic analysis: being an advocate for my child, understanding the big picture, and collaborative partnerships undeveloped in GPE. The findings lend additional support to the need for establishing collaborative partnerships in physical education between home and school environments (An & Goodwin, 2007; Tekin, 2011).
C1 [An, Jihoun] Texas State Univ, Dept Hlth & Human Performance, San Marcos, TX USA.
[Hodge, Samuel R.] Ohio State Univ, Coll Educ & Human Ecol, Columbus, OH 43210 USA.
RP An, JH (reprint author), Texas State Univ, Dept Hlth & Human Performance, San Marcos, TX USA.
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NR 35
TC 1
Z9 1
PU HUMAN KINETICS PUBL INC
PI CHAMPAIGN
PA 1607 N MARKET ST, PO BOX 5076, CHAMPAIGN, IL 61820-2200 USA
SN 0736-5829
J9 ADAPT PHYS ACT Q
JI Adapt. Phys. Act. Q.
PD APR
PY 2013
VL 30
IS 2
BP 147
EP 163
PG 17
WC Rehabilitation; Sport Sciences
SC Rehabilitation; Sport Sciences
GA 120GZ
UT WOS:000317160100003
PM 23520244
ER
PT J
AU Dabell, MP
Rosenfeld, JA
Bader, P
Escobar, LF
El-Khechen, D
Vallee, SE
Dinulos, MBP
Curry, C
Fisher, J
Tervo, R
Hannibal, MC
Siefkas, K
Wyatt, PR
Hughes, L
Smith, R
Ellingwood, S
Lacassie, Y
Stroud, T
Farrell, SA
Sanchez-Lara, PA
Randolph, LM
Niyazov, D
Stevens, CA
Schoonveld, C
Skidmore, D
MacKay, S
Miles, JH
Moodley, M
Huillet, A
Neill, NJ
Ellison, JW
Ballif, BC
Shaffer, LG
AF Dabell, Mindy Preston
Rosenfeld, Jill A.
Bader, Patricia
Escobar, Luis F.
El-Khechen, Dima
Vallee, Stephanie E.
Dinulos, Mary Beth Palko
Curry, Cynthia
Fisher, Jamie
Tervo, Raymond
Hannibal, Mark C.
Siefkas, Kiana
Wyatt, Philip R.
Hughes, Lauren
Smith, Rosemarie
Ellingwood, Sara
Lacassie, Yves
Stroud, Tracy
Farrell, Sandra A.
Sanchez-Lara, Pedro A.
Randolph, Linda M.
Niyazov, Dmitriy
Stevens, Cathy A.
Schoonveld, Cheri
Skidmore, David
MacKay, Sara
Miles, Judith H.
Moodley, Manikum
Huillet, Adam
Neill, Nicholas J.
Ellison, Jay W.
Ballif, Blake C.
Shaffer, Lisa G.
TI Investigation of NRXN1 deletions: Clinical and molecular
characterization
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE neurexin 1; 2p16.3; developmental delay; autism; dysmorphic;
schizophrenia; microarray
ID COPY NUMBER VARIATION; EXCITATORY SYNAPSE FORMATION; NEUREXIN I-ALPHA;
STRUCTURAL VARIANTS; DEVELOPMENTAL DISORDERS; DYSMORPHIC FEATURES;
MENTAL-RETARDATION; BETA-NEUREXINS; HIGH-FREQUENCY; ARRAY CGH
AB Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dysmorphic features. We have identified 34 probands with exonic NRXN1 deletions following referral for clinical microarray-based comparative genomic hybridization. To more firmly establish the full phenotypic spectrum associated with exonic NRXN1 deletions, we report the clinical features of 27 individuals with NRXN1 deletions, who represent 23 of these 34 families. The frequency of exonic NRXN1 deletions among our postnatally diagnosed patients (0.11%) is significantly higher than the frequency among reported controls (0.02%; P=6.08x107), supporting a role for these deletions in the development of abnormal phenotypes. Generally, most individuals with NRXN1 exonic deletions have developmental delay (particularly speech), abnormal behaviors, and mild dysmorphic features. In our cohort, autism spectrum disorders were diagnosed in 43% (10/23), and 16% (4/25) had epilepsy. The presence of NRXN1 deletions in normal parents and siblings suggests reduced penetrance and/or variable expressivity, which may be influenced by genetic, environmental, and/or stochastic factors. The pathogenicity of these deletions may also be affected by the location of the deletion within the gene. Counseling should appropriately represent this spectrum of possibilities when discussing recurrence risks or expectations for a child found to have a deletion in NRXN1. (c) 2013 Wiley Periodicals, Inc.
C1 [Dabell, Mindy Preston; Rosenfeld, Jill A.; Neill, Nicholas J.; Ellison, Jay W.; Ballif, Blake C.; Shaffer, Lisa G.] PerkinElmer Inc, Signature Genom Labs, Spokane, WA USA.
[Bader, Patricia] Northeast Indiana Genet Counseling Ctr, Ft Wayne, IN USA.
[Escobar, Luis F.; El-Khechen, Dima] Peyton Manning Childrens Hosp St Vincent, Med Genet & Neurodev Ctr, Indianapolis, IN USA.
[Vallee, Stephanie E.; Dinulos, Mary Beth Palko] Dartmouth Hitchcock Med Ctr, Geisel Sch Med Dartmouth, Med Genet Sect, Dept Pediat, Lebanon, NH 03766 USA.
[Curry, Cynthia; Fisher, Jamie] Genet Med Cent Calif, Fresno, CA USA.
[Tervo, Raymond] Gillette Childrens Specialty Healthcare, St Paul, MN USA.
[Hannibal, Mark C.] Univ Washington, Div Med Genet, Sch Med, Seattle, WA 98195 USA.
[Siefkas, Kiana] Childrens Village & Yakima Valley Mem Hosp, Yakima, WA USA.
[Wyatt, Philip R.; Hughes, Lauren] Orillia Soldiers Mem Hosp, Orillia, ON, Canada.
[Smith, Rosemarie; Ellingwood, Sara] Maine Med Ctr, Div Genet, Portland, ME 04102 USA.
[Lacassie, Yves] Louisiana State Univ, Dept Pediat, Hlth Sci Ctr, New Orleans, LA USA.
[Lacassie, Yves] Childrens Hosp, New Orleans, LA USA.
[Stroud, Tracy] Univ Missouri, Columbia Womens & Childrens Hosp, Columbia, MO USA.
[Farrell, Sandra A.] Credit Valley Hosp, Mississauga, ON, Canada.
[Sanchez-Lara, Pedro A.; Randolph, Linda M.] Univ So Calif, Keck Sch Med, Childrens Hosp Los Angeles, Los Angeles, CA 90033 USA.
[Niyazov, Dmitriy] Ochsner Childrens Hlth Ctr, New Orleans, LA USA.
[Stevens, Cathy A.] Univ Tennessee, Dept Pediat, Coll Med, Chattanooga, TN USA.
[Schoonveld, Cheri] Univ Minnesota, Med Ctr, Minneapolis, MN 55455 USA.
[Skidmore, David; MacKay, Sara] IWK Hlth Ctr, Maritime Med Genet Serv, Halifax, NS, Canada.
[Miles, Judith H.] Univ Missouri, Thompson Ctr Autism & Neurodev Disorders, Columbia, MO USA.
[Moodley, Manikum] Cleveland Clin, Ctr Pediat Neurol, Cleveland, OH 44106 USA.
[Huillet, Adam] Madigan Army Med Ctr, Ft Lewis, WA USA.
RP Shaffer, LG (reprint author), Genet Vet Sci Inc, 850 E Spokane Falls Blvd, Spokane, WA 99202 USA.
EM lshaffer@pawprintgenetics.com
RI sebastianovitsch, stepan/G-8507-2013
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NR 65
TC 16
Z9 16
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD APR
PY 2013
VL 161A
IS 4
BP 717
EP 731
DI 10.1002/ajmg.a.35780
PG 15
WC Genetics & Heredity
SC Genetics & Heredity
GA 112YM
UT WOS:000316631300014
PM 23495017
ER
PT J
AU Minhas, HM
Pescosolido, MF
Schwede, M
Piasecka, J
Gaitanis, J
Tantravahi, U
Morrow, EM
AF Minhas, Hassan M.
Pescosolido, Matthew F.
Schwede, Matthew
Piasecka, Justyna
Gaitanis, John
Tantravahi, Umadevi
Morrow, Eric M.
TI An unbalanced translocation involving loss of 10q26.2 and gain of 11q25
in a pedigree with autism spectrum disorder and cerebellar juvenile
pilocytic astrocytoma
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE autism spectrum disorder; cerebellar juvenile pilocytic astrocytoma;
unbalanced translocation; t(10; 11); NTM; OPCML
ID TUMOR-SUPPRESSOR; CLINICAL-FEATURES; TERMINAL DELETION; OPIOID-BINDING;
OVARIAN-CANCER; OPCML; IDENTIFICATION; EXPRESSION; 10Q; SCHIZOPHRENIA
AB We report on a pedigree with a pair of brothers each with minor anomalies, developmental delay, and autistic-symptoms who share an unbalanced translocation (not detectable by karyotype). The unbalanced translocation involves a 7.1Mb loss of the terminal portion of 10q, and a 4.2Mb gain of 11q. One of the brothers also developed a cerebellar juvenile pilocytic astrocytoma. The father was found to be a balanced carrier and the couple had a previous miscarriage. We demonstrate that the breakpoint for the triplicated region from chromosome 11 is adjacent to two IgLON genes, namely Neurotrimin (NTM) and Opioid Binding Protein/Cell Adhesion Molecule-like (OPCML). These genes are highly similar neural cell adhesion molecules that have been implicated in synaptogenesis and oncogenesis, respectively. The children also have a 10q deletion and are compared to other children with the 10q deletion syndrome which generally does not involve autism spectrum disorders (ASDs) or cancer. Together these data support a role for NTM and OPCML in developmental delay and potentially in cancer susceptibility. (c) 2013 Wiley Periodicals, Inc.
C1 [Minhas, Hassan M.; Pescosolido, Matthew F.; Schwede, Matthew; Piasecka, Justyna; Morrow, Eric M.] Brown Univ, Warren Alpert Med Sch, Emma Pendleton Bradley Hosp, Dev Disorders Genet Res Program, Providence, RI 02912 USA.
[Minhas, Hassan M.] Brown Univ, Warren Alpert Med Sch, Butler Hosp, Dept Psychiat & Human Behav, Providence, RI 02912 USA.
[Minhas, Hassan M.; Pescosolido, Matthew F.; Gaitanis, John; Morrow, Eric M.] Brown Univ, Warren Alpert Med Sch, Rhode Isl Consortium Autism Res & Treatment RI CA, Providence, RI 02912 USA.
[Schwede, Matthew; Morrow, Eric M.] Brown Univ, Dept Mol Biol Cell Biol & Biochem, Providence, RI 02912 USA.
[Schwede, Matthew; Morrow, Eric M.] Brown Univ, Inst Brain Sci, Providence, RI 02912 USA.
[Gaitanis, John] Brown Univ, Warren Alpert Med Sch, Rhode Isl Hosp, Providence, RI 02912 USA.
[Tantravahi, Umadevi] Brown Univ, Div Genet, Dept Pathol, Woman & Infants Hosp,Warren Alpert Med Sch, Providence, RI 02912 USA.
RP Morrow, EM (reprint author), Brown Univ, Mol Med Lab, Box G-E4,70 Ship St, Providence, RI 02912 USA.
EM eric_morrow@brown.edu
FU NIMH [5K23MH080954-04]; Brown Institute for Brain Science (Mahoney Pilot
Research Grant)
FX Grant sponsor: NIMH; Grant number: 5K23MH080954-04; Grant sponsor: Brown
Institute for Brain Science (Mahoney Pilot Research Grant).
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NR 25
TC 5
Z9 5
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD APR
PY 2013
VL 161A
IS 4
BP 787
EP 791
DI 10.1002/ajmg.a.35841
PG 5
WC Genetics & Heredity
SC Genetics & Heredity
GA 112YM
UT WOS:000316631300022
PM 23495067
ER
PT J
AU Khalifa, M
Stein, J
Grau, L
Nelson, V
Meck, J
Aradhya, S
Duby, J
AF Khalifa, Mohamed
Stein, Jennifer
Grau, Lance
Nelson, Valery
Meck, Jeanne
Aradhya, Swaroop
Duby, John
TI Partial deletion of ANKRD11 results in the KBG phenotype distinct from
the 16q24.3 microdeletion syndrome
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE KBG; 16q24; 3; microdeletion; macrodontia; MCA; MR; ANKRD11; autism;
ASD; mosaicism
ID DIAGNOSTIC-CRITERIA; DELINEATION
AB KBG syndrome (OMIM 148050) is a very rare genetic disorder characterized by macrodontia, distinctive craniofacial abnormalities, short stature, intellectual disability, skeletal, and neurologic involvement. Approximately 60 patients have been reported since it was first described in 1975. Recently mutations in ANKRD11 have been documented in patients with KBG syndrome, and it has been proposed that haploinsufficiency of ANKRD11 is the cause of this syndrome. In addition, copy number variation in the 16q24.3 region that includes ANKRD11 results in a variable phenotype that overlaps with KBG syndrome and also includes autism spectrum disorders and other dysmorphic facial features. In this report we present a 21/2-year-old African American male with features highly suggestive of KBG syndrome. Genomic microarray identified an intragenic 154kb deletion at 16q24.3 within ANKRD11. This child's mother was mosaic for the same deletion (present in approximately 38% of cells) and exhibited a milder phenotype including macrodontia, short stature and brachydactyly. This family provides additional evidence that ANKRD11 causes KBG syndrome, and the mild phenotype in the mosaic form suggests that KBG phenotypes might be dose dependent, differentiating it from the more variable 16q24.3 microdeletion syndrome. This family has additional features that might expand the phenotype of KBG syndrome. (c) 2013 Wiley Periodicals, Inc.
C1 [Khalifa, Mohamed; Stein, Jennifer; Grau, Lance] Akron Childrens Hosp, Dept Genet, Akron, OH USA.
[Nelson, Valery; Meck, Jeanne; Aradhya, Swaroop] GeneDx, Gaithersburg, MD USA.
[Duby, John] Akron Childrens Hosp, Akron, OH USA.
RP Khalifa, M (reprint author), Northeast Ohio Med Univ, 1 Perkins Sq, Akron, OH 44308 USA.
EM mkhalifa@chmca.org
CR Brancati F, 2006, ORPHANET J RARE DIS, V1, DOI 10.1186/1750-1172-1-50
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Sirmaci A, 2011, AM J HUM GENET, V89, P289, DOI 10.1016/j.ajhg.2011.06.007
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NR 11
TC 6
Z9 6
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD APR
PY 2013
VL 161A
IS 4
BP 835
EP 840
DI 10.1002/ajmg.a.35739
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA 112YM
UT WOS:000316631300029
PM 23494856
ER
PT J
AU Sagar, A
Bishop, JR
Tessman, DC
Guter, S
Martin, CL
Cook, EH
AF Sagar, Angela
Bishop, Jeffrey R.
Tessman, D. Clare
Guter, Steve
Martin, Christa L.
Cook, Edwin H.
TI Co-occurrence of autism, childhood psychosis, and intellectual
disability associated with a de novo 3q29 microdeletion
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE autism; 3q29; DLG1; PAK2; intellectual disability; psychosis
ID ONSET SCHIZOPHRENIA; UBIQUITIN LIGASE; HIGH-RISK; DELETION;
DUPLICATIONS; DISORDERS; FBXO45; REGION
AB Some copy number variants (CNVs) are strongly implicated in both schizophrenia and autism spectrum disorders (ASDs). Childhood-onset schizophrenia (COS) occurs rarely with 0.11% of all schizophrenia diagnoses manifesting before age 10. 3q29 deletions are associated with both autism and schizophrenia, and are rarethe frequency of the deletion estimated to be 1 in 1,750 in developmental disorders. Only one patient with a 3q29 deletion was identified out of the first 1,174 families with ASDs included in the Simons Simplex Collection (SSC). We report on detailed clinical findings for this patient with a de novo 3q29 deletion who, as a young child, developed a very rare overlap of symptoms of both autism and early onset psychosis. His ASD was first diagnosed at the age of 4 years and his psychotic symptoms began at 5 years old. This is only the second case reported thus far of this rare event of co-occurring autism and very early onset psychosis in a child with a 3q29 deletion. It is also the earliest case of a child with autism developing comorbid psychosismanifesting by the age of 5 years. (c) 2013 Wiley Periodicals, Inc.
C1 [Sagar, Angela; Tessman, D. Clare; Guter, Steve; Cook, Edwin H.] Univ Illinois, Dept Psychiat, Inst Juvenile Res, Chicago, IL 60608 USA.
[Bishop, Jeffrey R.] Univ Illinois, Coll Pharm, Dept Pharm Practice, Chicago, IL 60608 USA.
[Martin, Christa L.] Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA.
RP Sagar, A (reprint author), Univ Illinois, Dept Psychiat, Inst Juvenile Res, 1747 West Roosevelt Rd,Suite 155, Chicago, IL 60608 USA.
EM asagar@psych.uic.edu
FU Simons Foundation; Training in the Neuroscience of Mental Health
[5T32MH067631-07]; [K08MH083888]
FX Grant sponsor: Simons Foundation.We thank the patient and his family for
their cooperation, assistance, and support in this project. This work
was supported in part by 5T32MH067631-07 Training in the Neuroscience of
Mental Health (A. S.), K08MH083888 (J.R.B.), and grant support from the
Simons Foundation (C.L.M., E.C.).
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NR 28
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD APR
PY 2013
VL 161A
IS 4
BP 845
EP 849
DI 10.1002/ajmg.a.35754
PG 5
WC Genetics & Heredity
SC Genetics & Heredity
GA 112YM
UT WOS:000316631300031
PM 23443968
ER
PT J
AU Shichiji, M
Ito, Y
Shimojima, K
Nakamu, H
Oguni, H
Osawa, M
Yamamoto, T
AF Shichiji, Minobu
Ito, Yasushi
Shimojima, Keiko
Nakamu, Hidetsugu
Oguni, Hirokazu
Osawa, Makiko
Yamamoto, Toshiyuki
TI A cryptic microdeletion including MBD5 occurring within the breakpoint
of a reciprocal translocation between chromosomes 2 and 5 in a patient
with developmental delay and obesity
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE 2q23; 1 deletion syndrome; methyl-CpG-binding domain 5 gene (MBD5);
pachygyria; obesity; cryptic deletion
ID COMPARATIVE GENOMIC HYBRIDIZATION; MENTALLY-RETARDED PATIENT;
RETARDATION; PHENOTYPE; FEATURES
AB The 2q23.1 deletion syndrome has been recently recognized as a neurodevelopmental disorder associated with intellectual disability, epilepsy, and autism spectrum disorder. Recently, methyl-CpG-binding domain 5 gene (MBD5), located in the 2q23.1 region, has been considered as a single causative gene of this syndrome. We report on a female patient with a de novo reciprocal translocation between chromosomes 2 and 5. Chromosomal microarray testing revealed a cryptic 896kb deletion that included MBD5. Although clinical manifestations of this patient are compatible with those of patients with 2q23.1 deletion syndrome, a focal pachygyria revealed by brain magnetic resonance imaging has never been observed in the previously reported cases. Obesity caused by hyperphagia was observed in our patient and 28% of the previously reported patients with the 2q23.1 deletion syndrome. For better medical management, appropriate dietary guidance against hyperphagia should be given to the patients' family. (c) 2013 Wiley Periodicals, Inc.
C1 [Shichiji, Minobu; Ito, Yasushi; Nakamu, Hidetsugu; Oguni, Hirokazu; Osawa, Makiko] Tokyo Womens Med Univ, Dept Pediat, Tokyo 1628666, Japan.
[Shichiji, Minobu; Shimojima, Keiko; Yamamoto, Toshiyuki] Tokyo Womens Med Univ, Inst Integrated Med Sci, Tokyo 1628666, Japan.
RP Yamamoto, T (reprint author), Tokyo Womens Med Univ, Inst Integrated Med Sci, 8-1 Kawada Cho, Tokyo 1628666, Japan.
EM yamamoto.toshiyuki@twmu.ac.jp
FU Japan Society for the Promotion of Science
FX Grant sponsor: Grant-in-Aid for Scientific Research (C); Grant sponsor:
Japan Society for the Promotion of Science.
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NR 14
TC 5
Z9 5
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD APR
PY 2013
VL 161A
IS 4
BP 850
EP 855
DI 10.1002/ajmg.a.35768
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA 112YM
UT WOS:000316631300032
PM 23494922
ER
PT J
AU Hancarova, M
Simandlova, M
Drabova, J
Mannik, K
Kurg, A
Sedlacek, Z
AF Hancarova, Miroslava
Simandlova, Martina
Drabova, Jana
Mannik, Katrin
Kurg, Ants
Sedlacek, Zdenek
TI A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A,
PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE 2p15-p16; 1 microdeletion syndrome; autism; copy number variation;
developmental delay; intellectual disability; SNP array
ID COPY NUMBER; DEVELOPMENTAL DELAY; HUMAN GENOME; 2P15-16.1; GENES;
DISORDERS; RESOURCES; PHENOTYPE; VARIANTS; FAMILY
AB The 2p15-p16.1 microdeletion syndrome is a novel, rare disorder characterized by developmental delay, intellectual disability, microcephaly, growth retardation, facial abnormalities, and other medical problems. We report here on an 11-year-old female showing clinical features consistent with the syndrome and carrying a de novo 0.45Mb long deletion of the paternally derived 2p16.1 allele. The deleted region contains only three protein-coding RefSeq genes, BCL11A, PAPOLG, and REL, and one long non-coding RNA gene FLJ16341. Based on close phenotypic similarities with six reported patients showing typical clinical features of the syndrome, we propose that the critical region can be narrowed down further, and that these brain expressed genes can be considered candidates for the features seen in this microdeletion syndrome. (c) 2013 Wiley Periodicals, Inc.
C1 [Hancarova, Miroslava; Simandlova, Martina; Drabova, Jana; Sedlacek, Zdenek] Charles Univ Prague, Fac Med 2, Dept Biol & Med Genet, Prague 15000 5, Czech Republic.
[Hancarova, Miroslava; Simandlova, Martina; Drabova, Jana; Sedlacek, Zdenek] Univ Hosp Motol, Prague, Czech Republic.
[Mannik, Katrin; Kurg, Ants] Univ Tartu, Inst Mol & Cell Biol, EE-50090 Tartu, Estonia.
RP Sedlacek, Z (reprint author), Charles Univ Prague, Fac Med 2, Dept Biol & Med Genet, Prague 15000 5, Czech Republic.
EM zdenek.sedlacek@lfmotol.cuni.cz
FU European Commission [223692 CHERISH, BM1004]; Czech Ministries of
Education and Health [LD11028, 00064203]; Estonian Ministry of Education
and Research [SF0180027s10]
FX Grant sponsor: European Commission; Grant number: 223692 CHERISH and
BM1004; Grant sponsor: Czech Ministries of Education and Health; Grant
numbers: LD11028 and 00064203; Grant sponsor: Estonian Ministry of
Education and Research; Grant number: SF0180027s10.
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NR 27
TC 4
Z9 4
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD APR
PY 2013
VL 161A
IS 4
BP 865
EP 870
DI 10.1002/ajmg.a.35783
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA 112YM
UT WOS:000316631300035
PM 23495096
ER
PT J
AU Bekhet, AK
Zauszniewski, JA
AF Bekhet, Abir K.
Zauszniewski, Jaclene A.
TI Psychometric Assessment of the Depressive Cognition Scale Among
Caregivers of Persons With Autism Spectrum Disorder
SO ARCHIVES OF PSYCHIATRIC NURSING
LA English
DT Article
ID INTELLECTUAL DISABILITY; STRESS PROLIFERATION; PRESCHOOL-CHILDREN;
PARENTING STRESS; SOCIAL SUPPORT; MOTHERS; OPTIMISM; ANXIETY; FATHERS;
BURDEN
AB Caregivers of persons with autism spectrum disorders (ASD) are prone to depression, and early identification of cognitive depressive symptoms is important to prevent the development of clinical depression. The Depressive Cognition Scale (DCS) can be used for early detection, but the scales psychometrics has not been tested in caregivers of persons with ASD. In this study, 95 caregivers of persons with ASD completed the eight-item DCS and measures of caregiver burden and resourcefulness. A Cronbach's alpha of .90 indicated internal consistency. Construct validity was supported by significant correlations with caregiver burden (.59) and resourcefulness (-.57). Principal component factor analysis produced a single factor with 58% of the variance explained. The findings suggest the DCS is useful for early detection of depression in caregivers of persons with ASD. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Bekhet, Abir K.] Marquette Univ, Coll Nursing, Milwaukee, WI 53233 USA.
[Zauszniewski, Jaclene A.] Case Western Reserve Univ, Cleveland, OH 44106 USA.
RP Bekhet, AK (reprint author), Marquette Univ, Coll Nursing, Clark Hall 530 N 16th St, Milwaukee, WI 53233 USA.
EM abir.bekhet@marquette.edu; jaz@case.edu
FU American Psychiatric Nurses Foundation (APNF) [74614]
FX The parent study is funded by The American Psychiatric Nurses Foundation
(APNF) research grant number: 74614.
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NR 61
TC 3
Z9 3
PU W B SAUNDERS CO-ELSEVIER INC
PI PHILADELPHIA
PA 1600 JOHN F KENNEDY BOULEVARD, STE 1800, PHILADELPHIA, PA 19103-2899 USA
SN 0883-9417
J9 ARCH PSYCHIAT NURS
JI Arch. Psychiatr. Nurs.
PD APR
PY 2013
VL 27
IS 2
BP 96
EP 100
DI 10.1016/j.apnu.2012.10.004
PG 5
WC Nursing; Psychiatry
SC Nursing; Psychiatry
GA 124CU
UT WOS:000317442200007
PM 23540520
ER
PT J
AU Mizejewski, GJ
Lindau-Shepard, B
Pass, KA
AF Mizejewski, Gerald J.
Lindau-Shepard, Barbara
Pass, Kenneth A.
TI Newborn screening for autism: in search of candidate biomarkers
SO BIOMARKERS IN MEDICINE
LA English
DT Article
DE autism; biomarkers; bloodspots; newborn; screening spectrum disorder
ID THYROID-STIMULATING HORMONE; PROSTATE-SPECIFIC ANTIGEN;
CENTRAL-NERVOUS-SYSTEM; GENE-RELATED PEPTIDE; DRIED BLOOD SPOTS;
SPECTRUM DISORDER; OXIDATIVE STRESS; TISSUE INHIBITOR; CYTOKINE LEVELS;
MATRIX METALLOPROTEINASES
AB Background: Autism spectrum disorder (ASD) represents a wide range of neurodevelopmental disorders characterized by impairments in social interaction, language, communication and range of interests. Autism is usually diagnosed in children 3-5 years of age using behavioral characteristics; thus, diagnosis shortly after birth would be beneficial for early initiation of treatment. Aim: This retrospective study sought to identify newborns at risk for ASD utilizing bloodspot specimens in an immunoassay. Materials & methods: The present study utilized stored frozen specimens from ASD children already diagnosed at 15-36 months of age. The newborn specimens and controls were analyzed by immunoassay in a multiplex system that included 90 serum biomarkers and subjected to statisical analysis. Results: Three sets of five biomarkers associated with ASD were found that differed from control groups. The 15 candidate biomarkers were then discussed regarding their association with ASD. Conclusion: This study determined that a statistically selected panel of 15 biomarkers successfully discriminated presumptive newborns at risk for ASD from those of nonaffected controls.
C1 [Mizejewski, Gerald J.; Lindau-Shepard, Barbara] New York State Dept Hlth, Wadsworth Ctr, Div Translat Med, Albany, NY 12201 USA.
[Pass, Kenneth A.] ISNS, Bilthoven, Netherlands.
RP Mizejewski, GJ (reprint author), New York State Dept Hlth, Wadsworth Ctr, Div Translat Med, POB 509, Albany, NY 12201 USA.
EM mizejew@wadsworth.org
FU NIH [ADB-NO1-DK-6-3430 (HHSN267200603430)]; Novel Technologies in
Newborn Screening
FX This work was supported by NIH Contract ADB-NO1-DK-6-3430
(HHSN267200603430), Novel Technologies in Newborn Screening to KA Pass
(principal investigator). 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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NR 95
TC 0
Z9 0
PU FUTURE MEDICINE LTD
PI LONDON
PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3
1QB, ENGLAND
SN 1752-0363
J9 BIOMARK MED
JI Biomark. Med.
PD APR
PY 2013
VL 7
IS 2
BP 247
EP 260
DI 10.2217/BMM.12.108
PG 14
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA 120FA
UT WOS:000317155000018
PM 23547820
ER
PT J
AU Pavlova, MA
Krageloh-Mann, I
AF Pavlova, Marina A.
Kraegeloh-Mann, Ingeborg
TI Limitations on the developing preterm brain: impact of periventricular
white matter lesions on brain connectivity and cognition
SO BRAIN
LA English
DT Review
DE preterm birth; brain development; cognitive functions; motor disability;
brain connectivity
ID LOW-BIRTH-WEIGHT; BIOLOGICAL MOTION PERCEPTION; SUPERIOR TEMPORAL
SULCUS; AUTISM SPECTRUM DISORDERS; SPASTIC CEREBRAL-PALSY; INFANTS BORN
PRETERM; DIFFUSION-TENSOR; CHILDREN BORN; VISUAL IMPAIRMENT; SOCIAL
COGNITION
AB Brain lesions to the white matter in peritrigonal regions, periventricular leukomalacia, in children who were born prematurely represent an important model for studying limitations on brain development. The lesional pattern is of early origin and bilateral, that constrains the compensatory potential of the brain. We suggest that (i) topography and severity of periventricular lesions may have a long-term predictive value for cognitive and social capabilities in preterm birth survivors; and (ii) periventricular lesions may impact cognitive and social functions by affecting brain connectivity, and thereby, the dissociable neural networks underpinning these functions. A further pathway to explore is the relationship between cerebral palsy and cognitive outcome. Restrictions caused by motor disability may affect active exploration of surrounding and social participation that may in turn differentially impinge on cognitive development and social cognition. As an outline for future research, we underscore sex differences, as the sex of a preterm newborn may shape the mechanisms by which the developing brain is affected.
C1 [Pavlova, Marina A.; Kraegeloh-Mann, Ingeborg] Univ Tubingen, Sch Med, Childrens Hosp, Dept Paediat Neurol & Dev Med, D-72076 Tubingen, Germany.
RP Pavlova, MA (reprint author), Univ Tubingen, Sch Med, Childrens Hosp, Dept Paediat Neurol & Dev Med, Hoppe Seyler Str 1, D-72076 Tubingen, Germany.
EM marina.pavlova@uni-tuebingen.de
FU Else Kroner Fresenius Foundation [P63/2008, P2010_92]; Werner Reichardt
Center for Integrative Neuroscience (CIN) [2009-24]; German Research
Council (DFG); Reinhold Beitlich Foundation; EU SCPE Net [20081307]
FX The Else Kroner Fresenius Foundation (Grants P63/2008 and P2010_92); the
Werner Reichardt Center for Integrative Neuroscience (CIN, pool project
2009-24), supported by the German Research Council (DFG), the Reinhold
Beitlich Foundation to M.A.P., and EU SCPE Net 20081307 to I.K.-M.
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NR 184
TC 10
Z9 11
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0006-8950
J9 BRAIN
JI Brain
PD APR
PY 2013
VL 136
BP 998
EP 1011
DI 10.1093/brain/aws334
PN 4
PG 14
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA 123OW
UT WOS:000317400700004
PM 23550112
ER
PT J
AU Mintz, J
AF Mintz, Joseph
TI Additional key factors mediating the use of a mobile technology tool
designed to develop social and life skills in children with Autism
Spectrum Disorders: Evaluation of the 2nd HANDS prototype
SO COMPUTERS & EDUCATION
LA English
DT Article
DE Pedagogical issues; Secondary education; Computer mediated
communication; Autistic spectrum disorders
ID VIRTUAL ENVIRONMENTS; EXECUTIVE FUNCTION; SELF-EFFICACY; INDIVIDUALS;
ADOLESCENTS; MIND; IMPAIRMENTS; BEHAVIOR
AB Of late there has been growing interest in the potential of technology to support children with Autism Spectrum Disorders (ASD) with social and life skills. There has also been a burgeoning interest in the potential use of mobile technology in the classroom and in the use of such technology to support children with ASD. Building on these developments, the HANDS project has developed a mobile cognitive support application for smartphones, based on the principles of persuasive technology design, which supports children with ASD with social and life skills functioning - areas of ability which tend to be impaired in this population. Based on the evaluation of the implementation of an initial prototype, a second prototype was developed in the summer of 2010 and implemented in the 2010111 academic year in four special schools for children with ASD. This paper reports on a qualitative interpretivist evaluation of the second prototype, identifying which factors mediate the level of engagement with the technology by both teachers and children. Fifteen teachers and twenty six children used the second prototype.
Data was gathered using from teachers (n = 15) using direct classroom observation, individual semi-structured interviews, and questionnaires. Semi-structured interviews were also used to collect data from some parents (n = 6) and children (n = 10). A number of factors identified in the first prototype are also found to be present in the second prototype. However new factors are also identified, including student awareness of difficulties and associated motivation to change, and the preference of some children with ASD to receive persuasive messages from mobile devices. Particular issues related to the cognitive structure of children with ASD are considered. Further design guidelines are proposed for future implementations of similarly purposed technology tools. (C) 2012 Elsevier Ltd. All rights reserved.
C1 [Mintz, Joseph] Univ London, Inst Educ, Fac Children & Learning, London WC1H 0LH, England.
[Mintz, Joseph] London S Bank Univ, London, England.
RP Mintz, J (reprint author), Univ London, Inst Educ, Fac Children & Learning, 20 Bedford Way, London WC1H 0LH, England.
EM j.mintz@ioe.ac.uk
FU European Commission [224216]
FX This work was supported by the European Commission, [Grant No. 224216].
Thanks are due to other members of the consortium including teachers and
other professionals at test site schools, for their support and
assistance in the work described in this project.
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NR 54
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0360-1315
J9 COMPUT EDUC
JI Comput. Educ.
PD APR
PY 2013
VL 63
BP 17
EP 27
DI 10.1016/j.compedu.2012.11.006
PG 11
WC Computer Science, Interdisciplinary Applications; Education &
Educational Research
SC Computer Science; Education & Educational Research
GA 123DZ
UT WOS:000317369900003
ER
PT J
AU Sudarov, A
Gooden, F
Tseng, D
Gan, WB
Ross, ME
AF Sudarov, Anamaria
Gooden, Frank
Tseng, Debbie
Gan, Wen-Biao
Ross, Margaret Elizabeth
TI Lis1 controls dynamics of neuronal filopodia and spines to impact
synaptogenesis and social behaviour
SO EMBO MOLECULAR MEDICINE
LA English
DT Article
DE autism-relevant behaviour; cytoskeletal dynamics; Rho GTPases;
schizophrenia-relevant behaviour; synapse development
ID AUTISTIC-LIKE BEHAVIORS; DENDRITIC SPINES; CEREBRAL-CORTEX; MUTANT MICE;
IN-VIVO; SYNAPTIC PLASTICITY; DIVERSE REGIONS; SMALL GTPASES; ADULT
CORTEX; RHO-KINASE
AB LIS1 (PAFAH1B1) mutation can impair neuronal migration, causing lissencephaly in humans. LIS1 loss is associated with dynein protein motor dysfunction, and disrupts the actin cytoskeleton through disregulated RhoGTPases. Recently, LIS1 was implicated as an important protein-network interaction node with high-risk autism spectrum disorder genes expressed in the synapse. How LIS1 might participate in this disorder has not been investigated. We examined the role of LIS1 in synaptogenesis of post-migrational neurons and social behaviour in mice. Two-photon imaging of actin-rich dendritic filopodia and spines in vivo showed significant reductions in elimination and turnover rates of dendritic protrusions of layer V pyramidal neurons in adolescent Lis1+/ mice. Lis1+/ filopodia on immature hippocampal neurons in vitro exhibited reduced density, length and RhoA dependent impaired dynamics compared to Lis1+/+. Moreover, Lis1+/ adolescent mice exhibited deficits in social interaction. Lis1 inactivation restricted to the postnatal hippocampus resulted in similar deficits in dendritic protrusion density and social interactions. Thus, LIS1 plays prominently in dendritic filopodia dynamics and spine turnover implicating reduced dendritic spine plasticity as contributing to developmental autistic-like behaviour.
C1 [Sudarov, Anamaria; Tseng, Debbie; Ross, Margaret Elizabeth] Cornell Univ, Weill Med Coll, Brain & Mind Res Inst, New York, NY 10021 USA.
[Gooden, Frank; Gan, Wen-Biao] NYU, Neurosci Program, Skirball Inst, New York, NY USA.
RP Ross, ME (reprint author), Cornell Univ, Weill Med Coll, Brain & Mind Res Inst, New York, NY 10021 USA.
EM mer2005@med.cornell.edu
FU National Research Service Award Ruth Kirschstein Fellowship
[F32MH093126, PO1NS048120]; Qatar Foundation [NS047325, NS047325S]
FX We thank C. S. Lai for two photon microscopy technical assistance, M.
Arango-Lievano for the AAV2-GFP-Actin virus, A. K. Hadjantonakis for the
myr-Venus mice, R. Marongiu for assistance with lentivirus production,
and S. Singh for technical help. We also thank S. H. Shi, E. E. Govek
and members of the Ross laboratory for discussions and/or critical
reading of the manuscript. This work has been supported by the National
Research Service Award Ruth Kirschstein Fellowship F32MH093126 (A. S.),
PO1NS048120 and Qatar Foundation (to M. E. R.), NS047325 (to W-B. G.)
and NS047325S (to F.G.).
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NR 54
TC 4
Z9 4
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1757-4676
J9 EMBO MOL MED
JI EMBO Mol. Med.
PD APR
PY 2013
VL 5
IS 4
BP 591
EP 607
DI 10.1002/emmm.201202106
PG 17
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA 119AY
UT WOS:000317070200011
PM 23483716
ER
PT J
AU Kobayashi, K
Endoh, F
Ogino, T
Oka, M
Morooka, T
Yoshinaga, H
Ohtsuka, Y
AF Kobayashi, Katsuhiro
Endoh, Fumika
Ogino, Tatsuya
Oka, Makio
Morooka, Teruko
Yoshinaga, Harumi
Ohtsuka, Yoko
TI Questionnaire-based assessment of behavioral problems in Japanese
children with epilepsy
SO EPILEPSY & BEHAVIOR
LA English
DT Article
DE Behavior; Epilepsy; Childhood; CBCL; ASSQ; ADHD Rating Scale
ID RECOGNIZED SEIZURES; PEDIATRIC EPILEPSY; RATING-SCALES; ADHD;
PSYCHOPATHOLOGY; COMORBIDITIES; CHILDHOOD; CHECKLIST; VALIDITY; DISORDER
AB Behavioral problems in Japanese children with epilepsy were investigated by means of a questionnaire for parents consisting of three checklists: the Child Behavior Checklist (CBCL)/4-18 Japanese Edition, the High-Functioning Autism Spectrum Screening Questionnaire (ASSQ), and the Attention-Deficit/Hyperactivity Disorder (ADHD) Rating Scale-IV (ADHD-RS) for parents. The participants were the parents of 108 children aged 6-18 years with apparently normal intelligence. The CBCL indicated abnormal behavior in 10.5 to 35.6% of the children, and T scores on both the internalizing and externalizing scales had a significant positive relation with scores on the ASSQ and ADHD-RS. It was revealed through multivariate logistic regression analysis that the persistence of seizures was significantly related with abnormality on the externalizing scale of the CBCL (p = 0.010, odds ratio: 3.48, 95% confidence interval: 1.34-9.02). Future studies are needed to determine whether seizure freedom improves behavior in children with epilepsy. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Kobayashi, Katsuhiro; Endoh, Fumika; Oka, Makio; Morooka, Teruko; Yoshinaga, Harumi; Ohtsuka, Yoko] Okayama Univ, Dept Child Neurol, Grad Sch Med Dent & Pharmaceut Sci, Kita Ku, Okayama 7008530, Japan.
[Kobayashi, Katsuhiro; Endoh, Fumika; Oka, Makio; Morooka, Teruko; Yoshinaga, Harumi; Ohtsuka, Yoko] Okayama Univ Hosp, Kita Ku, Okayama 7008558, Japan.
[Ogino, Tatsuya] Chugokugakuen Univ, Fac Children Studies, Dept Children Studies, Okayama, Japan.
[Ohtsuka, Yoko] Asahigawasou Rehabil & Med Ctr, Okayama, Japan.
RP Kobayashi, K (reprint author), Okayama Univ Hosp, Dept Child Neurol, Kita Ku, 5-1 Shikatacho 2 Chome, Okayama 7008558, Japan.
EM k_koba@md.okayama-u.ac.jp
FU Ministry of Health and Welfare [19A-6]; Ministry of Education, Culture,
Sports, Science, and Technology, Japan [24591513]
FX This study is in part supported by the Research Grant (19A-6) for
Nervous and Mental Disorders from the Ministry of Health and Welfare and
a Grant-in-Aid from the Ministry of Education, Culture, Sports, Science,
and Technology, Japan (no. 24591513).
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NR 19
TC 0
Z9 0
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1525-5050
J9 EPILEPSY BEHAV
JI Epilepsy Behav.
PD APR
PY 2013
VL 27
IS 1
BP 238
EP 242
DI 10.1016/j.yebeh.2013.01.020
PG 5
WC Behavioral Sciences; Clinical Neurology; Psychiatry
SC Behavioral Sciences; Neurosciences & Neurology; Psychiatry
GA 118MG
UT WOS:000317029000043
PM 23466253
ER
PT J
AU Newbury, DF
Mari, F
Akha, ES
MacDermot, KD
Canitano, R
Monaco, AP
Taylor, JC
Renieri, A
Fisher, SE
Knight, SJL
AF Newbury, Dianne F.
Mari, Francesca
Akha, Elham Sadighi
MacDermot, Kay D.
Canitano, Roberto
Monaco, Anthony P.
Taylor, Jenny C.
Renieri, Alessandra
Fisher, Simon E.
Knight, Samantha J. L.
TI Dual copy number variants involving 16p11 and 6q22 in a case of
childhood apraxia of speech and pervasive developmental disorder
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Letter
ID CLASSIFICATION-SYSTEM SDCS; AUTISM SPECTRUM DISORDERS; SKELETAL-MUSCLE
TRIADIN; CHROMOSOME 16P11.2; MICRODELETION SYNDROME; DELETION; DELAY;
GENE; MICRODUPLICATION; REARRANGEMENTS
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[Mari, Francesca; Canitano, Roberto; Renieri, Alessandra] Azienda Osped Univ Senese, Siena, Italy.
[Akha, Elham Sadighi; Taylor, Jenny C.; Knight, Samantha J. L.] NIHR Biomed Res Ctr, Oxford, England.
[MacDermot, Kay D.] Univ London Imperial Coll Sci Technol & Med, Kennedy Galton Ctr, North West Thames Reg Genet Serv, London, England.
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RP Newbury, DF (reprint author), Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England.
EM sknight@well.ox.ac.uk
RI Mari, Francesca/E-7737-2012; Fisher, Simon/E-9130-2012; Monaco,
Anthony/A-4495-2010
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Monaco, Anthony/0000-0001-7480-3197
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NR 45
TC 9
Z9 9
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1018-4813
J9 EUR J HUM GENET
JI Eur. J. Hum. Genet.
PD APR
PY 2013
VL 21
IS 4
BP 361
EP 365
DI 10.1038/ejhg.2012.166
PG 5
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 119HV
UT WOS:000317089300002
PM 22909776
ER
PT J
AU Raca, G
Baas, BS
Kirmani, S
Laffin, JJ
Jackson, CA
Strand, EA
Jakielski, KJ
Shriberg, LD
AF Raca, Gordana
Baas, Becky S.
Kirmani, Salman
Laffin, Jennifer J.
Jackson, Craig A.
Strand, Edythe A.
Jakielski, Kathy J.
Shriberg, Lawrence D.
TI Childhood Apraxia of Speech (CAS) in two patients with 16p11.2
microdeletion syndrome
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE aCGH; apraxia; dyspraxia; FOXP2; speech sound disorder
ID MENTAL-RETARDATION; DISORDER; FOXP2; DELETION; AUTISM; PHENOTYPE;
MUTATION; DEFICITS; MOTHER; DUPLICATIONS
AB We report clinical findings that extend the phenotype of the similar to 550 kb 16p11.2 microdeletion syndrome to include a rare, severe, and persistent pediatric speech sound disorder termed Childhood Apraxia of Speech (CAS). CAS is the speech disorder identified in a multigenerational pedigree ('KE') in which half of the members have a mutation in FOXP2 that co-segregates with CAS, oromotor apraxia, and low scores on a nonword repetition task. Each of the two patients in the current report completed a 2-h assessment protocol that provided information on their cognitive, language, speech, oral mechanism, motor, and developmental histories and performance. Their histories and standard scores on perceptual and acoustic speech tasks met clinical and research criteria for CAS. Array comparative genomic hybridization analyses identified deletions at chromosome 16p11.2 in each patient. These are the first reported cases with well-characterized CAS in the 16p11.2 syndrome literature and the first report of this microdeletion in CAS genetics research. We discuss implications of findings for issues in both literatures. European Journal of Human Genetics (2013) 21, 455-459; doi:10.1038/ejhg.2012.165; published online 22 August 2012
C1 [Raca, Gordana; Laffin, Jennifer J.; Shriberg, Lawrence D.] Univ Wisconsin, Madison, WI 53705 USA.
[Raca, Gordana; Laffin, Jennifer J.; Jackson, Craig A.] Univ Wisconsin, Wisconsin State Lab Hyg, Madison, WI 53706 USA.
[Baas, Becky S.; Strand, Edythe A.] Mayo Clin, Dept Neurol, Rochester, MN USA.
[Kirmani, Salman] Mayo Clin, Coll Med, Rochester, MN USA.
[Jakielski, Kathy J.] Augustana Coll, Rock Isl, IL 61201 USA.
[Shriberg, Lawrence D.] Univ Wisconsin, Waisman Ctr, Madison, WI 53705 USA.
RP Shriberg, LD (reprint author), Univ Wisconsin, Waisman Ctr, Room 439,1500 Highland Ave, Madison, WI 53705 USA.
EM shriberg@waisman.wisc.edu
FU National Institute on Deafness and Other Communicative Disorders
[DC000496]; National Institute of Health and Development [HD03352]
FX This work was supported by a grant from the National Institute on
Deafness and Other Communicative Disorders (DC000496) to Lawrence D.
Shriberg and a Core Grant from the National Institute of Health and
Development (HD03352) to the Waisman Center. We thank the patients and
their families and the following laboratory colleagues for their
contributions to this report: Sheryl Hall, Heather Karlsson, Heather
Lohmeier, Jane McSweeny, Christine Tilkens, and David Wilson.
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NR 41
TC 8
Z9 8
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1018-4813
J9 EUR J HUM GENET
JI Eur. J. Hum. Genet.
PD APR
PY 2013
VL 21
IS 4
BP 455
EP 459
DI 10.1038/ejhg.2012.165
PG 5
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 119HV
UT WOS:000317089300018
PM 22909774
ER
PT J
AU Barraza, JA
Grewal, NS
Ropacki, S
Perez, P
Gonzalez, A
Zak, PJ
AF Barraza, Jorge A.
Grewal, Naomi S.
Ropacki, Susan
Perez, Pamela
Gonzalez, Anthony
Zak, Paul J.
TI Effects of a 10-Day Oxytocin Trial in Older Adults on Health and
Well-Being
SO EXPERIMENTAL AND CLINICAL PSYCHOPHARMACOLOGY
LA English
DT Article
DE oxytocin; intranasal administration; well-being; emotion; older adults
ID OBSESSIVE-COMPULSIVE DISORDER; SOCIAL ANXIETY DISORDER; MINI-MENTAL
STATE; INTRANASAL OXYTOCIN; BLOOD-PRESSURE; AUTISM; VASOPRESSIN; STRESS;
HUMANS; LIFE
AB The neuropeptide oxytocin (OT) modulates functioning of the hypothalamic-pituitary-adrenal (HPA) axis and regulates a range of social processes. Clinical studies have used intranasal OT administration to treat symptoms arising from a number of psychiatric disorders including autism, schizophrenia, and depression. Most of this research, however, has been based on single dose treatments of OT in younger adult populations. The present study examined the impact on the health and psychological well-being of a 10-day OT administration in an older adult population. Residentially housed older adults (N = 41, mean age of 80) were enrolled in a randomized, double-blind, placebo-controlled study. Participants received 40 IU intranasal OT or placebo for 10 consecutive days. No changes in mood or cardiovascular states were observed across the 10-day period. Repeated-measures ANOVAs showed that dispositional gratitude improved for the OT infused participants, although gratitude declined for placebo controls over the 10 days (p=.015). Those in the OT condition did not report a decline in physical functioning over time as was observed in the placebo condition (p=.05), and also reported less fatigue compared with controls (p=.03). No significant adverse events were reported throughout the entirety of the study, indicating that OT can be safely used with older adults.
C1 [Barraza, Jorge A.; Grewal, Naomi S.; Gonzalez, Anthony; Zak, Paul J.] Claremont Grad Univ, Ctr Neuroecon Studies, Claremont, CA 91711 USA.
[Ropacki, Susan] Loma Linda Univ, Dept Psychol, Loma Linda, CA 92350 USA.
[Perez, Pamela] Loma Linda Univ, Dept Allied Profess, Loma Linda, CA 92350 USA.
RP Zak, PJ (reprint author), Claremont Grad Univ, Ctr Neuroecon Studies, 160 East 10th St, Claremont, CA 91711 USA.
EM paul.zak@cgu.edu
FU National Institute of Aging (NIA) [1R21AG029871-01A2]
FX This research was supported by a grant awarded to Paul J. Zak from the
National Institute of Aging (NIA) grant # 1R21AG029871-01A2. The funding
source had no other role other than financial support. All authors have
contributed in a significant way to the manuscript and all authors have
read and approved the final manuscript. There are no conflicts of
interest for any of the authors including financial, personal, or other
relationships with other organizations or pharmaceutical/biomedical
companies that may inappropriately impact or influence the research and
interpretation of the findings. We thank several people that assisted in
collecting the data presented here including Dr. David Swope, Laura
Beavin, Joel Kamper, and Julia Kroh. We also thank all the staff at
participating active living communities who assisted in recruiting and
providing us with space for data collection.
CR Barraza J. A., OXYTOCIN VASOPRESSIN
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NR 70
TC 6
Z9 6
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 1064-1297
J9 EXP CLIN PSYCHOPHARM
JI Exp. Clin. Psychopharmacol.
PD APR
PY 2013
VL 21
IS 2
BP 85
EP 92
DI 10.1037/a0031581
PG 8
WC Psychology, Biological; Psychology, Clinical; Pharmacology & Pharmacy;
Psychiatry
SC Psychology; Pharmacology & Pharmacy; Psychiatry
GA 119WG
UT WOS:000317129400001
PM 23421352
ER
PT J
AU Kohl, S
Heekeren, K
Klosterkotter, J
Kuhn, J
AF Kohl, S.
Heekeren, K.
Klosterkoetter, J.
Kuhn, J.
TI Prepulse inhibition in psychiatric disorders - Apart from schizophrenia
SO JOURNAL OF PSYCHIATRIC RESEARCH
LA English
DT Review
DE Prepulse inhibition; Startle reflex; Psychiatric disorders;
Translational research; Sensorimotor gating
ID POSTTRAUMATIC-STRESS-DISORDER; OBSESSIVE-COMPULSIVE DISORDER; ACOUSTIC
STARTLE RESPONSE; SENSORIMOTOR GATING DEFICITS; INFORMATION-PROCESSING
DEFICITS; VIETNAM VETERANS; BIPOLAR DISORDER; BLINK REFLEX;
HUNTINGTONS-DISEASE; NOCTURNAL ENURESIS
AB Prepulse inhibition (PPI) is a robust operational measure of sensorimotor gating. In schizophrenic patients PPI is deficient. The aim of our review was to investigate the state of science regarding PPI and psychiatric disorders aside from schizophrenia. We used the online database PubMed in order to search for original published reports on PPI studies. The terms "prepulse inhibition", "sensorimotor gating", "blink recovery", and "blink reflex excitability" have been combined with the names of psychiatric disorders. We found that PPI is deficient in obsessive compulsive disorder (OCD) and Gilles de la Tourette's syndrome (GTS). In bipolar disorder dysfunctional PPI seems to be rather state dependent. Studies on depression and attention deficit/hyperactivity disorder (ADHD) consistently report no alterations. Evidence regarding sensorimotor gating in anxiety, autism, fragile X syndrome, posttraumatic stress disorder (PTSD), substance disorders, and Huntington's disease is still poor. There is a strong need for further studies on PPI in psychiatric disorders. PPI is highly applicable for translational research and might also be a very useful tool to investigate the mode of action of innovative, neuro-modulative techniques. Future PPI studies should control for influencing variables such as smoking, sex, or medication. (C) 2012 Elsevier Ltd. All rights reserved.
C1 [Kohl, S.; Klosterkoetter, J.; Kuhn, J.] Univ Cologne, Dept Psychiat & Psychotherapy, D-50937 Cologne, Germany.
[Heekeren, K.] Univ Zurich, Dept Gen & Social Psychiat, Zurich, Switzerland.
RP Kuhn, J (reprint author), Univ Cologne, Dept Psychiat & Psychotherapy, Kerpener Str 62, D-50937 Cologne, Germany.
EM Jens.kuhn@uk-koeln.de
FU Walter and Marga Boll Foundation; German Research Foundation [KFO-219];
Medtronic GmbH (Meerbusch, Germany); AstraZeneca; Lilly; Lundbeck;
Otsuka Pharma
FX This work has been funded by the Walter and Marga Boll Foundation as
well as the German Research Foundation (KFO-219 grant).Jens Kuhn
received financial support for IIT-DBS studies from Medtronic GmbH
(Meerbusch, Germany). Furthermore J Kuhn has occasionally received
honoraria from AstraZeneca, Lilly, Lundbeck, and Otsuka Pharma for
lecturing at conferences and financial support to travel to congresses.
All other authors declare that they have no conflict of interest.
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NR 90
TC 26
Z9 28
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0022-3956
J9 J PSYCHIATR RES
JI J. Psychiatr. Res.
PD APR
PY 2013
VL 47
IS 4
BP 445
EP 452
DI 10.1016/j.jpsychires.2012.11.018
PG 8
WC Psychiatry
SC Psychiatry
GA 118LT
UT WOS:000317027700003
PM 23287742
ER
PT J
AU Sato, JR
Hoexter, MQ
Oliveira, PPD
Brammer, MJ
Murphy, D
Ecker, C
AF Sato, Joao Ricardo
Hoexter, Marcelo Queiroz
de Magalhaes Oliveira, Pedro Paulo, Jr.
Brammer, Michael John
Murphy, Declan
Ecker, Christine
CA MRC AIMS Consortium
TI Inter-regional cortical thickness correlations are associated with
autistic symptoms: A machine-learning approach
SO JOURNAL OF PSYCHIATRIC RESEARCH
LA English
DT Article
DE Autism; MRI; Neuroimaging; Machine learning; Pattern recognition;
Connectivity
ID HUMAN CEREBRAL-CORTEX; SPECTRUM DISORDER; STRUCTURAL COVARIANCE;
ALZHEIMERS-DISEASE; FUNCTIONAL MRI; BRAIN ANATOMY; CLASSIFICATION;
CONNECTIVITY; NEUROANATOMY; ORGANIZATION
AB The investigation of neural substrates of autism spectrum disorder using neuroimaging has been the focus of recent literature. In addition, machine-learning approaches have also been used to extract relevant information from neuroimaging data. There are only few studies directly exploring the inter-regional structural relationships to identify and characterize neuropsychiatric disorders. In this study, we concentrate on addressing two issues: (i) a novel approach to extract individual subject features from inter-regional thickness correlations based on structural magnetic resonance imaging (MRI); (ii) using these features in a machine-learning framework to obtain individual subject prediction of a severity scores based on neurobiological criteria rather than behavioral information. In a sample of 82 autistic patients, we have shown that structural covariances among several brain regions are associated with the presence of the autistic symptoms. In addition, we also demonstrated that structural relationships from the left hemisphere are more relevant than the ones from the right. Finally, we identified several brain areas containing relevant information, such as frontal and temporal regions. This study provides evidence for the usefulness of this new tool to characterize neuropsychiatric disorders. (C) 2012 Elsevier Ltd. All rights reserved.
C1 [Sato, Joao Ricardo] Univ Fed ABC, Ctr Math Computat & Cognit, BR-09210170 Santo Andre, SP, Brazil.
[Hoexter, Marcelo Queiroz] Univ Sao Paulo, Sch Med, Inst Psychiat, BR-05508 Sao Paulo, Brazil.
[de Magalhaes Oliveira, Pedro Paulo, Jr.] Univ Sao Paulo, Sch Med, Inst Radiol, BR-05508 Sao Paulo, Brazil.
[Brammer, Michael John; Murphy, Declan; Ecker, Christine] Kings Coll London, Inst Psychiat, London, England.
RP Sato, JR (reprint author), Univ Fed ABC, Ctr Math Computat & Cognit, Rua Santa Adelia 166, BR-09210170 Santo Andre, SP, Brazil.
EM joao.sato@ufabc.edu.br
RI Ecker, Christine/E-5194-2010; Bolton, Patrick/E-8501-2010
OI Bolton, Patrick/0000-0002-5270-6262
FU FAPESP-Brazil; MRC-UK; MRC AIMS Consortium (Autism Imaging Multicentre
Study); Medical Research Council UK [G0400061]; NIHR Biomedical Research
Centre for Mental Health at King's College London, Institute of
Psychiatry and South London & Maudsley NHS Foundation Trust
FX This study received financial support from FAPESP-Brazil and MRC-UK.This
work was supported by FAPESP-Brazil, the MRC AIMS Consortium (Autism
Imaging Multicentre Study) funded by the Medical Research Council UK
(G0400061), and the NIHR Biomedical Research Centre for Mental Health at
King's College London, Institute of Psychiatry and South London &
Maudsley NHS Foundation Trust.
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NR 37
TC 6
Z9 6
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0022-3956
J9 J PSYCHIATR RES
JI J. Psychiatr. Res.
PD APR
PY 2013
VL 47
IS 4
BP 453
EP 459
DI 10.1016/j.jpsychires.2012.11.017
PG 7
WC Psychiatry
SC Psychiatry
GA 118LT
UT WOS:000317027700004
PM 23260170
ER
PT J
AU Maenner, MJ
Schieve, LA
Rice, CE
Cunniff, C
Giarelli, E
Kirby, RS
Lee, LC
Nicholas, JS
Wingate, MS
Durkin, MS
AF Maenner, Matthew J.
Schieve, Laura A.
Rice, Catherine E.
Cunniff, Christopher
Giarelli, Ellen
Kirby, Russell S.
Lee, Li-Ching
Nicholas, Joyce S.
Wingate, Martha S.
Durkin, Maureen S.
TI Frequency and Pattern of Documented Diagnostic Features and the Age of
Autism Identification
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE autism; autism spectrum disorder; identification; diagnosis;
population-based
ID PERVASIVE DEVELOPMENTAL DISORDER; SPECTRUM DISORDERS; REPETITIVE
BEHAVIOR; GENERAL-POPULATION; 2ND YEAR; CHILDREN; SURVEILLANCE; LIFE;
STABILITY; SYMPTOMS
AB Objective: The DSM-IV-TR specifies 12 behavioral features that can occur in hundreds of possible combinations to meet diagnostic criteria for autism spectrum disorder (ASD). This paper describes the frequency and variability with which the 12 behavioral features are documented in a population-based cohort of 8-year-old children under surveillance for ASD, and examines whether documentation of certain features, alone or in combination with other features, is associated with earlier age of community identification of ASD. Method: Statistical analysis of behavioral features documented for a population-based sample of 2,757 children, 8 years old, with ASD in 11 geographically-defined areas in the US participating in the Autism and Developmental Disabilities Monitoring Network in 2006. Results: The median age at ASD identification was inversely associated with the number of documented behavioral features, decreasing from 8.2 years for children with only seven behavioral features to 3.8 years for children with all 12. Documented impairments in nonverbal communication, pretend play, inflexible routines, and repetitive motor behaviors were associated with earlier identification, whereas impairments in peer relations, conversational ability, and idiosyncratic speech were associated with later identification. Conclusions: The age dependence of some of the behavioral features leading to an autism diagnosis, as well as the inverse association between age at identification and number of behavioral features documented, have implications for efforts to improve early identification. Progress in achieving early identification and provision of services for children with autism may be limited for those with fewer ASD behavioral features, as well as features likely to be detected at later ages. J. Am. Acad. Child Adolesc. Psychiatry, 2013; 52(4):401-413.
C1 [Maenner, Matthew J.; Durkin, Maureen S.] Univ Wisconsin Madison, Madison, WI USA.
[Schieve, Laura A.; Rice, Catherine E.] Ctr Dis Control & Prevent CDC, Atlanta, GA USA.
[Cunniff, Christopher] Univ Arizona, Coll Med, Tucson, AZ USA.
[Giarelli, Ellen] Drexel Univ, Philadelphia, PA USA.
[Kirby, Russell S.] Univ S Florida, Tampa, FL 33620 USA.
[Lee, Li-Ching] Johns Hopkins Univ, Baltimore, MD 21218 USA.
[Nicholas, Joyce S.] Med Univ S Carolina, Charleston, SC USA.
[Wingate, Martha S.] Univ Alabama Birmingham, Birmingham, AL USA.
RP Maenner, MJ (reprint author), 1500 Highland Ave Rm 529A, Madison, WI 53705 USA.
RI Durkin, Maureen/B-7834-2015
FU Autism Science Foundation; CDC Cooperative Agreements [UR3/CCU523235,
UR3/DD000078, UR3/DD000677]; University of Wisconsin-Madison; Waisman
Center [P30 HD03352]
FX This work was supported by a grant from the Autism Science Foundation
and by the CDC Cooperative Agreements UR3/CCU523235, UR3/DD000078, and
UR3/DD000677. Additional support has been provided by the University of
Wisconsin-Madison and the Waisman Center (P30 HD03352, M R. Mailick,
PI). We are grateful to the many staff, scientists, and clinicians that
have contributed to the Autism and Developmental Disabilities Monitoring
(ADDM) Network project. We also thank Mark Albanese, Ph.D., of the
University of Wisconsin-Madison, for his advice regarding the
descriptive analyses in this manuscript. The findings and conclusions in
this report are those of the authors and do not necessarily represent
the official position of the CDC.
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US Department of Health and Human Services, HLTH PEOPL 2010 2020
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NR 43
TC 6
Z9 6
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0890-8567
J9 J AM ACAD CHILD PSY
JI J. Am. Acad. Child Adolesc. Psychiatr.
PD APR
PY 2013
VL 52
IS 4
BP 401
EP 413
DI 10.1016/j.jaac.2013.01.014
PG 13
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA 122LL
UT WOS:000317319500009
PM 23582871
ER
PT J
AU Pescosolido, MF
Gamsiz, ED
Nagpal, S
Morrow, EM
AF Pescosolido, Matthew F.
Gamsiz, Ece D.
Nagpal, Shailender
Morrow, Eric M.
TI Distribution of Disease-Associated Copy Number Variants Across Distinct
Disorders of Cognitive Development
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE autism; epilepsy; intellectual disability schizophrenia; copy number
variation
ID DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS; IDIOPATHIC GENERALIZED
EPILEPSY; DEFICIT HYPERACTIVITY DISORDER; SCAFFOLDING PROTEIN SHANK3;
RARE CHROMOSOMAL DELETIONS; GENOME-WIDE ANALYSIS; DRAVET SYNDROME;
RECURRENT MICRODELETIONS; 15Q13.3 MICRODELETIONS
AB Objective: The purpose of the present study was to discover the extent to which distinct DSM disorders share large, highly recurrent copy number variants (CNVs) as susceptibility factors. We also sought to identify gene mechanisms common to groups of diagnoses and/or specific to a given diagnosis based on associations with CNVs. Method: Systematic review of 820 PubMed articles on autism spectrum disorder (ASD), intellectual disability (ID), schizophrenia, and epilepsy produced 54 CNVs associated with one or several disorders. Pathway analysis on genes implicated by CNVs in different groupings was conducted. Results: The majority of CNVs were found in ID with the other disorders somewhat subsumed, yet certain CNVs were associated with isolated or groups of disorders. Based on genes implicated by CNVs, ID encompassed 96.8% of genes in ASD, 92.8% of genes in schizophrenia, and 100.0% of genes in epilepsy. Pathway analysis revealed that synapse processes were enriched in ASD, ID, and schizophrenia. Disease-specific processes were identified in ID (actin cytoskeleton processes), schizophrenia (ubiquitin-related processes), and ASD (synaptic vesicle transport and exocytosis). Conclusions: Intellectual disability may arise from the broadest range of genetic pathways, and specific subsets of these pathways appear to be relevant to other disorders or combinations of these disorders. It is clear that statistically significant CNVs across disorders of cognitive development are highly enriched for biological processes related to the synapse. There are also disorder-specific processes that may aid in understanding the distinct presentations and pathophysiology of these disorders. J. Am. Acad. Child Adolesc. Psychiatry; 2013;52(4):414-430.
C1 [Pescosolido, Matthew F.; Gamsiz, Ece D.; Nagpal, Shailender; Morrow, Eric M.] Brown Univ, Inst Brain Sci, Providence, RI 02912 USA.
[Pescosolido, Matthew F.; Gamsiz, Ece D.; Morrow, Eric M.] Brown Univ, Emma Pendleton Bradley Hosp, Dev Disorders Genet Res Program, Providence, RI 02912 USA.
[Pescosolido, Matthew F.; Gamsiz, Ece D.; Morrow, Eric M.] Brown Univ, Warren Alpert Sch Med, Providence, RI 02912 USA.
RP Morrow, EM (reprint author), Brown Univ, Mol Med Lab, 70 Ship St, Providence, RI 02912 USA.
RI Morrow, Eric/J-2767-2013
FU Career Award in Medical Science from the Burroughs Wellcome Fund;
National Institute of Mental Health (NIMH) [1K23MH080954-05]; Lifespan
Research Institute; Lifespan Division of Psychiatry; Brown Institute for
Brain Science; Norman Prince Neurosciences Institute; Wellcome Trust
FX This research received support from a Career Award in Medical Science
from the Burroughs Wellcome Fund (E.M.M.) and from the National
Institute of Mental Health (NIMH) grant 1K23MH080954-05 (E M M.). Dr.
Gamsiz is the first Brown University Alpert Medical School Translational
Neuroscience Postdoctoral Fellow jointly sponsored by the Lifespan
Research Institute, the Lifespan Division of Psychiatry, the Brown
Institute for Brain Science, and the Norman Prince Neurosciences
Institute.This study makes use of data generated by the DECIPHER
Consortium. A full list of centers that contributed to the generation of
the data is available from http://decipher.sanger.ac.uk and via email
from decipher@sanger.ac.uk. Funding for the project was provided by the
Wellcome Trust.
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NR 80
TC 5
Z9 5
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0890-8567
J9 J AM ACAD CHILD PSY
JI J. Am. Acad. Child Adolesc. Psychiatr.
PD APR
PY 2013
VL 52
IS 4
BP 414
EP 430
DI 10.1016/j.jaac.2013.01.003
PG 17
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA 122LL
UT WOS:000317319500010
PM 23582872
ER
PT J
AU Sato, K
AF Sato, Kohji
TI Placenta-derived hypo-serotonin situations in the developing forebrain
cause autism
SO MEDICAL HYPOTHESES
LA English
DT Article
ID INDOLEAMINE 2,3-DIOXYGENASE GENE; CORTICOTROPIN-RELEASING HORMONE;
DEVELOPING RAT-BRAIN; CORTICAL DEVELOPMENT; TRANSPORTER; MOUSE;
EXPRESSION; TRYPTOPHAN; NEURONS; FETAL
AB Autism is a pervasive developmental disorder that is characterized by the behavioral traits of impaired social cognition and communication, and repetitive and/or obsessive behavior and interests. Although there are many theories and speculations about the pathogenetic causes of autism, the disruption of the serotonergic system is one of the most consistent and well-replicated findings. Recently, it has been reported that placenta-derived serotonin is the main source in embryonic day (E) 10-15 mouse forebrain, after that period, the serotonergic fibers start to supply serotonin into the forebrain. E 10-15 is the very important developing period, when cortical neurogenesis, migration and initial axon targeting are processed. Since all these events have been considered to be involved in the pathogenesis of autism and they are highly controlled by serotonin signals, the paucity of placenta-derived serotonin should have potential importance when the pathogenesis of autism is considered. I, thus, postulate a hypothesis that placenta-derived hypo-serotonin situations in the developing forebrain cause autism. The hypothesis is as follows. Various factors, such as inflammation, dysfunction of the placenta, together with genetic predispositions cause a decrease of placenta-derived serotonin levels. The decrease of placenta-derived serotonin levels leads to hypo-serotonergic situations in the forebrain of the fetus. The paucity of serotonin in the forebrain leads to mis-wiring in important regions which are responsible for the theory of mind. The paucity of serotonin in the forebrain also causes over-growth of serotonergic fibers. These disturbances result in network deficiency and aberration of the serotonergic system, leading to the autistic phenotypes. (C) 2013 Elsevier Ltd. All rights reserved.
C1 Hamamatsu Univ Sch Med, Dept Anat & Neurosci, Higashi Ku, Hamamatsu, Shizuoka 4313192, Japan.
RP Sato, K (reprint author), Hamamatsu Univ Sch Med, Dept Anat & Neurosci, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, Japan.
EM ksato@hama-med.ac.jp
FU Ministry of Education, Science and Culture of Japan; Shintenkai
FX Grant sponsor: The Ministry of Education, Science and Culture of Japan;
Shintenkai.
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NR 47
TC 3
Z9 3
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
J9 MED HYPOTHESES
JI Med. Hypotheses
PD APR
PY 2013
VL 80
IS 4
BP 368
EP 372
DI 10.1016/j.mehy.2013.01.002
PG 5
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA 120IR
UT WOS:000317164500007
PM 23375670
ER
PT J
AU Monro, JA
Leon, R
Puri, BK
AF Monro, J. A.
Leon, R.
Puri, B. K.
TI The risk of lead contamination in bone broth diets
SO MEDICAL HYPOTHESES
LA English
DT Article
ID OCCUPATIONAL-EXPOSURE; TOXICITY; BLOOD
AB The preparation and consumption of bone broth is being increasingly recommended to patients, for example as part of the gut and psychology syndrome (GAPS) diet for autism, attention-deficit hyperactivity disorder, dyslexia, dyspraxia, depression and schizophrenia, and as part of the paleolithic diet. However, bones are known to sequester the heavy metal lead, contamination with which is widespread throughout the modern environment. Such sequestered lead can then be mobilised from the bones. We therefore hypothesised that bone broth might carry a risk of being contaminated with lead. A small, blinded, controlled study of lead concentrations in three different types of organic chicken broth showed that such broths do indeed contain several times the lead concentration of the water with which the broth is made. In particular, broth made from skin and cartilage taken off the bone once the chicken had been cooked with the bones in situ, and chicken-bone broth, were both found to have markedly high lead concentrations, of 9.5 and 7.01 mu g L-1, respectively (compared with a control value for tap water treated in the same way of 0.89 mu g L-1). In view of the dangers of lead consumption to the human body, we recommend that doctors and nutritionists take the risk of lead contamination into consideration when advising patients about bone broth diets. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Monro, J. A.; Leon, R.] Breakspear Med Grp, Hemel Hempstead, Herts, England.
[Puri, B. K.] Imperial Coll London, Hammersmith Hosp, London, England.
RP Puri, BK (reprint author), Hammersmith Hosp, Imaging Directorate, Du Cane Rd, London W12 0HS, England.
EM basant.puri@imperial.ac.uk
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NR 9
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
J9 MED HYPOTHESES
JI Med. Hypotheses
PD APR
PY 2013
VL 80
IS 4
BP 389
EP 390
DI 10.1016/j.mehy.2012.12.026
PG 2
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA 120IR
UT WOS:000317164500012
PM 23375414
ER
PT J
AU Megremi, ASF
AF Megremi, Amalia S. F.
TI Is fever a predictive factor in the autism spectrum disorders?
SO MEDICAL HYPOTHESES
LA English
DT Article
ID GASTROINTESTINAL SYMPTOMS; DEVELOPMENTAL DISORDERS; OXIDATIVE STRESS;
NERVOUS-SYSTEM; TNF-ALPHA; CHILDREN; ACETAMINOPHEN; PREVALENCE;
ASSOCIATION; ACTIVATION
AB Autism spectrum disorders (ASD) display such a marked increase in recent decades that researchers speak of "epidemic outbreak" of the disease. Although the diagnostic framework has been expanded and thus more disorders now fall within the autistic spectrum, no one disputes the increased incidence of autism in modern societies, making it a major public health problem.
On the other hand, heterogeneity is a major feature of the disorder, both in terms of the etiopathogenesis as well as to the phenotypic expression, natural history and evolution.
Consequently, there is considerable research interest in determining factors which are etiopathogenetically, prognostically, preventively or/and therapeutically associated with the disorder.
Literature data indicate that probably there are differences in susceptibility to various infections between normal and autistic children. In addition, some autistic children show improvement in the characteristics of their autistic behavior during febrile incident and repression of fever (through antipyretics) might be associated with the onset of autistic disorder. Since fever has been associated with mental illness since the time of Hippocrates already and the presence of fever is associated with a favorable outcome in various pathologic conditions, it is assumed that there are probably two subgroups of autistic children: those who have the possibility to develop acute febrile incidents and those who develop acute incidents without fever. If this is the case, it is important to know whether there are differences between the two subgroups in various biological markers (cytokines/chemokines, autoantibodies), neuroimaging findings, personal and family history of these children (use of drugs, vaccinations, history of autoimmunity, etc.) and, if the first subgroup consists of autistic people of higher functionality and better outcome, or not.
If such a classification is real, is there a possibility for the fever to be used as a predictor of the autistic disorder outcome and of whether that person will achieve an acceptable level of functionality in the future? If there are positive answers to these questions, are autistic children, who develop fever, at a very critical stage in evolutionary terms, where it is very important not to lose the defense mechanism of fever development and thus mast use the fever repression methods (antipyretic drugs for example) with caution and chariness?
If it is confirmed that autistic children with high fevers are of higher functionality, it is possible for preventive intervention programs to be developed where children are exposed to the least possible chemical drugs intervention (antipyretics, antibiotics, etc.) or even selective vaccination.
Further experimental, epidemiological and clinical studies are necessary to investigate the above. (C) 2013 Elsevier Ltd. All rights reserved.
C1 Gen Univ Hosp Attikon, Ilion Sociomed Ctr, Athens, Greece.
RP Megremi, ASF (reprint author), Gen Univ Hosp Attikon, Ilion Sociomed Ctr, Athens, Greece.
EM asmegremi@yahoo.gr
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NR 123
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
J9 MED HYPOTHESES
JI Med. Hypotheses
PD APR
PY 2013
VL 80
IS 4
BP 391
EP 398
DI 10.1016/j.mehy.2013.01.007
PG 8
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA 120IR
UT WOS:000317164500013
PM 23394936
ER
PT J
AU Steinman, G
Mankuta, D
AF Steinman, Gary
Mankuta, David
TI Insulin-like growth factor and the etiology of autism
SO MEDICAL HYPOTHESES
LA English
DT Article
ID IGF-I GENE; AMYOTROPHIC-LATERAL-SCLEROSIS; HEAD CIRCUMFERENCE GROWTH;
BLOOD-BRAIN-BARRIER; FOR-GESTATIONAL-AGE; LOW-BIRTH-WEIGHT; SPECTRUM
DISORDERS; INFANTILE-AUTISM; CEREBROSPINAL-FLUID; CHILDREN BORN
AB The basic hypothesis for this study is that reduced peripartum level of insulin-like growth factor-1 (IGF) due to genetic, epigenetic, or environmental factors is a sentinel biomarker of increased probability of later development of autism. The central objective of the resultant proposed study described here is examining if a correlation exists between the serum level of IGF in the fetus/newborn and the probability of autism developing later in the child. Mechanisms possibly causing such a decrease are considered. This would define a prospective biomarker for and possible etiology of this disorder.
Insulin-like growth factor-1 directly affects the rate at which oligodendrocytes promote myelination in the central nervous system, especially in the brain. Factors which reduce the production or availability of IGF could retard normal nerve programming in the fetus or neonate. Thus, it would be desirable to arrest the pathologic processes of autism in the early neonatal stage before irreversible nerve damage occurs. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Steinman, Gary] Touro Coll Osteopath Med, Dept Biochem, New York, NY 10027 USA.
[Mankuta, David] Hadassah Univ Hosp, Dept Obstet & Gynecol, IL-12000 Jerusalem, Israel.
RP Steinman, G (reprint author), Touro Coll Osteopath Med, Dept Biochem, 230 West 125th St, New York, NY 10027 USA.
EM gary.steinman@touro.edu
FU Touro College Office of Sponsored Programs; Israel Psychobiology Fund
FX Study funded by Touro College Office of Sponsored Programs and the
Israel Psychobiology Fund.
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NR 106
TC 5
Z9 5
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
J9 MED HYPOTHESES
JI Med. Hypotheses
PD APR
PY 2013
VL 80
IS 4
BP 475
EP 480
DI 10.1016/j.mehy.2013.01.010
PG 6
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA 120IR
UT WOS:000317164500029
PM 23375408
ER
PT J
AU Minniti, G
Lorini, R
Veneselli, E
Vergani, L
Voci, A
Calevo, MG
Battaglia, FM
AF Minniti, G.
Lorini, R.
Veneselli, E.
Vergani, L.
Voci, A.
Calevo, M. G.
Battaglia, F. M.
TI Are psychobiological markers strongly correlated with allostatic load in
population with autism spectrum disorders (ASD)?
SO MEDICAL HYPOTHESES
LA English
DT Letter
ID PERFORMANCE LIQUID-CHROMATOGRAPHY; HOMOCYSTEINE; FLUORESCENCE; PLASMA
C1 [Minniti, G.; Lorini, R.; Veneselli, E.; Battaglia, F. M.] Univ Genova DINOGMI, Ist Giannina Gaslini, I-16144 Genoa, Italy.
[Vergani, L.; Voci, A.] Univ Genoa, Dept Biol, I-16132 Genoa, Italy.
[Calevo, M. G.] Ist Giannina Gaslini, Sci Directorate, Epidemiol & Biostat Sect, I-16144 Genoa, Italy.
RP Calevo, MG (reprint author), Ist Giannina Gaslini, Sci Directorate, Epidemiol & Biostat Sect, I-16144 Genoa, Italy.
EM mariagraziacalevo@ospedale-gaslini.ge.it
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NR 10
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 APR
PY 2013
VL 80
IS 4
BP 506
EP 506
DI 10.1016/j.mehy.2012.12.011
PG 1
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA 120IR
UT WOS:000317164500037
PM 23332179
ER
PT J
AU Branchi, I
Curley, JP
D'Andrea, I
Cirulli, F
Champagne, FA
Alleva, E
AF Branchi, Igor
Curley, James P.
D'Andrea, Ivana
Cirulli, Francesca
Champagne, Frances A.
Alleva, Enrico
TI Early interactions with mother and peers independently build adult
social skills and shape BDNF and oxytocin receptor brain levels
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Article
DE Early experiences; Social; Peer; Mother; BDNF; Oxytocin; Mouse;
Environment
ID AUTISM SPECTRUM DISORDER; MATERNAL-CARE; INDIVIDUAL-DIFFERENCES;
EPIGENETIC INFLUENCE; STRESS REACTIVITY; BEHAVIOR; MICE; GENE;
ENRICHMENT; VASOPRESSIN
AB The early social environment has a profound impact on developmental trajectories. Although an impoverished early environment can undermine the acquisition of appropriate social skills, the specific role played by the different components of an individual's early environment in building social competencies has not been fully elucidated. Here we setup an asynchronous communal nesting paradigm in mice to disentangle the influence of maternal care and early peer interactions on adult social behavior and neural systems reportedly involved in the regulation of social interactions. The asynchronous communal nesting consists of three mothers giving birth three days apart, generating three groups of pups - the Old, the Middle and the Young - all raised in a single nest from birth to weaning. We scored the amount of maternal and peer interactions received by these mice and by a fourth group reared under standard conditions. At adulthood, the four experimental groups have been investigated for social behavior in a social interaction test, i.e. facing an unfamiliar conspecific during five 20-min daily encounters, and for oxytocin receptor and brain derived neurotrophic factor (BDNF) levels. Results show that only individuals exposed to high levels of both maternal and peer interactions demonstrated elaborate adult agonistic competencies, i.e. the ability to promptly display a social status, and high BDNF levels in the hippocampus, frontal cortex and hypothalamus. By contrast, only individuals exposed to high levels of peer interactions showed enhanced adult affiliative behavior and enhanced oxytocin receptor levels in selected nuclei of the amygdala. Overall these findings indicate that early interactions with mother and peers independently shape specific facets of adult social behavior and neural systems involved in social interaction. (c) 2012 Elsevier Ltd. All rights reserved.
C1 [Branchi, Igor; Cirulli, Francesca; Alleva, Enrico] Ist Super Sanita, Dept Cell Biol & Neurosci, Sect Behav Neurosci, I-00161 Rome, Italy.
[Curley, James P.; Champagne, Frances A.] Columbia Univ, Dept Psychol, New York, NY 10027 USA.
[D'Andrea, Ivana] Neuromed Inst, Dept Neuro & Cardiovasc Pathol, I-86077 Pozzilli, IS, Italy.
RP Branchi, I (reprint author), Ist Super Sanita, Dept Cell Biol & Neurosci, Sect Behav Neurosci, Viale Regina Elena 299, I-00161 Rome, Italy.
EM igor.branchi@iss.it
FU Italian Ministry of Health [11US/1, RF-2009-1498890]; Office of the
Director, National Institutes of Health [DP2OD001675]
FX This study was supported by the Italian Ministry of Health, projects
11US/1 to EA and RF-2009-1498890 to FC. FAC and JPC are supported by
grant number DP2OD001675 from the Office of the Director, National
Institutes of Health. The mentioned granting agencies had no 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 69
TC 19
Z9 19
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 APR
PY 2013
VL 38
IS 4
BP 522
EP 532
DI 10.1016/j.psyneuen.2012.07.010
PG 11
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA 120FO
UT WOS:000317156400006
PM 22910688
ER
PT J
AU Lord, C
AF Lord, Catherine
TI Fetal and Sociocultural Environments and Autism
SO AMERICAN JOURNAL OF PSYCHIATRY
LA English
DT Editorial Material
C1 Weill Cornell Med Ctr, Inst Brain Dev, New York, NY USA.
RP Lord, C (reprint author), Weill Cornell Med Ctr, Inst Brain Dev, New York, NY USA.
EM cal2028@med.cornell.edu
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NR 10
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
J9 AM J PSYCHIAT
JI Am. J. Psychiat.
PD APR
PY 2013
VL 170
IS 4
BP 355
EP 358
DI 10.1176/appi.ajp.2013.13010078
PG 4
WC Psychiatry
SC Psychiatry
GA 117AW
UT WOS:000316925500002
PM 23545788
ER
PT J
AU Abel, KM
Dalman, C
Svensson, AC
Susser, E
Dal, H
Idring, S
Webb, RT
Rai, D
Magnusson, C
AF Abel, Kathryn M.
Dalman, Christina
Svensson, Anna C.
Susser, Ezra
Dal, Henrik
Idring, Selma
Webb, Roger T.
Rai, Dheeraj
Magnusson, Cecilia
TI Deviance in Fetal Growth and Risk of Autism Spectrum Disorder
SO AMERICAN JOURNAL OF PSYCHIATRY
LA English
DT Article
ID BIRTH-WEIGHT INFANTS; GESTATIONAL-AGE; SOCIOECONOMIC-STATUS; PERINATAL
FACTORS; TWIN PAIRS; POPULATION; COHORT; SCHIZOPHRENIA; DISABILITIES;
PREVALENCE
AB Objective: Understanding the relationship between fetal growth and autism spectrum disorder (ASD) is likely to advance the search for genetic and nongenetic causes of ASD. The authors explored the associations between fetal growth, gestational age, and ASD with and without comorbid intellectual disability in a Scandinavian study population.
Method: The authors conducted a matched nested case-control study within the Stockholm Youth Cohort that included all children ages 0-17 who resided in Stockholm County from 2001 to 2007 (N=589,114). The authors identified 4,283 children with ASD: 1,755 with intellectual disability and 2,528 without, and they selected 36,588 age- and sex-matched comparison subjects. ASD case subjects were ascertained from unique identifiers assigned to all Swedish residents and linkage with official registers covering all pathways of assessment or care of ASD in Stockholm County. The authors calculated z scores of deviance in fetal growth from a reference curve using records from the national Swedish Medical Birth Registry, which included ultrasound dating of gestational age as well as birth weight. Crude and adjusted odds ratios for ASD, ASD with intellectual disability, and ASD without intellectual disability were the main outcome measures.
Results: ASD risk increased with fetal growth 1.50 standard deviations below and >2.00 standard deviations above the mean for gestational age; the greatest risk was for fetal growth that was less than 2.00 standard deviations below the mean (adjusted odds ratio=1.70; 95% CI=1.44-2.01) or greater than 2.00 standard deviations above the mean (adjusted. odds ratio=1.50; 95% CI=1.27-1.77). The same overall pattern was observed for ASD with and without intellectual disabilities. However, poor fetal growth (i.e., growth below the mean) was more strongly associated with ASD with intellectual disabilities than without. Regardless of fetal growth, preterm birth increased ASD risk.
Conclusions: Deviance in fetal growth at either distributional extreme may be a significant antecedent to the development of ASD through genetic and/or nongenetic mechanisms. (Am J Psychiatry 2013; 170:391-398)
C1 [Abel, Kathryn M.] Univ Manchester, Ctr Womens Mental Hlth, Manchester M13 9PL, Lancs, England.
Univ Manchester, Manchester Acad Hlth Sci Ctr, Ctr Mental Hlth & Risk, Manchester M13 9PL, Lancs, England.
Karolinska Univ Hosp, Karolinska Inst, Div Publ Hlth Epidemiol, Dept Publ Hlth Sci,Norrbacka, Stockholm, Sweden.
Univ Bristol, Acad Unit Psychiat, Sch Social & Community Med, Bristol BS8 1TH, Avon, England.
Avon & Wiltshire Partnership NHS Mental Hlth Trus, Bristol, Avon, England.
Columbia Univ, Imprints Ctr Genet & Environm Life Course Studies, Mailman Sch Publ Hlth, New York, NY USA.
Columbia Univ, New York State Psychiat Inst, New York, NY USA.
RP Abel, KM (reprint author), Univ Manchester, Ctr Womens Mental Hlth, Manchester M13 9PL, Lancs, England.
EM kathryn.abel@manchester.ac.uk
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NR 47
TC 17
Z9 17
PU AMER PSYCHIATRIC PUBLISHING, INC
PI ARLINGTON
PA 1000 WILSON BOULEVARD, STE 1825, ARLINGTON, VA 22209-3901 USA
SN 0002-953X
J9 AM J PSYCHIAT
JI Am. J. Psychiat.
PD APR
PY 2013
VL 170
IS 4
BP 391
EP 398
DI 10.1176/appi.ajp.2012.12040543
PG 8
WC Psychiatry
SC Psychiatry
GA 117AW
UT WOS:000316925500009
PM 23545793
ER
PT J
AU Ritvo, ER
Ritvo, RA
AF Ritvo, Edward R.
Ritvo, Riva Ariella
TI Commentary on the Application of DSM-5 Criteria for Autism Spectrum
Disorder
SO AMERICAN JOURNAL OF PSYCHIATRY
LA English
DT Letter
C1 [Ritvo, Edward R.] Univ Calif Los Angeles, Inst Neuropsychiat, Los Angeles, CA 90024 USA.
Yale Univ, Ctr Child Study, New Haven, CT 06520 USA.
RP Ritvo, ER (reprint author), Univ Calif Los Angeles, Inst Neuropsychiat, 760 Westwood Plaza, Los Angeles, CA 90024 USA.
CR Huerta M, 2012, AM J PSYCHIAT, V169, P1056, DOI 10.1176/appi.ajp.2012.12020276
NR 1
TC 3
Z9 3
PU AMER PSYCHIATRIC PUBLISHING, INC
PI ARLINGTON
PA 1000 WILSON BOULEVARD, STE 1825, ARLINGTON, VA 22209-3901 USA
SN 0002-953X
J9 AM J PSYCHIAT
JI Am. J. Psychiat.
PD APR
PY 2013
VL 170
IS 4
BP 444
EP 445
DI 10.1176/appi.ajp.2013.12101376
PG 2
WC Psychiatry
SC Psychiatry
GA 117AW
UT WOS:000316925500018
PM 23545801
ER
PT J
AU Huerta, M
Bishop, SL
Duncan, A
Hus, V
Lord, C
AF Huerta, Marisela
Bishop, Somer L.
Duncan, Amie
Hus, Vanessa
Lord, Catherine
TI Commentary on the Application of DSM-5 Criteria for Autism Spectrum
Disorder Response
SO AMERICAN JOURNAL OF PSYCHIATRY
LA English
DT Letter
C1 [Huerta, Marisela] Weill Cornell Med Coll, Dept Psychiat, New York, NY USA.
Cincinnati Childrens Hosp Med, Div Dev & Behav Pediat, Cincinnati, OH USA.
Univ Michigan, Dept Psychol, Ann Arbor, MI USA.
RP Huerta, M (reprint author), Weill Cornell Med Coll, Dept Psychiat, White Plains, New York, NY USA.
CR Grzadzinski R, MOL AUTISM IN PRESS
Huerta M, 2012, AM J PSYCHIAT, V169, P1056, DOI 10.1176/appi.ajp.2012.12020276
Lord C, 2012, ARCH GEN PSYCHIAT, V69, P306, DOI 10.1001/archgenpsychiatry.2011.148
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Szatmari P, 2009, J CHILD PSYCHOL PSYC, V50, P1459, DOI 10.1111/j.1469-7610.2009.02123.x
NR 6
TC 1
Z9 1
PU AMER PSYCHIATRIC PUBLISHING, INC
PI ARLINGTON
PA 1000 WILSON BOULEVARD, STE 1825, ARLINGTON, VA 22209-3901 USA
SN 0002-953X
J9 AM J PSYCHIAT
JI Am. J. Psychiat.
PD APR
PY 2013
VL 170
IS 4
BP 445
EP 446
DI 10.1176/appi.ajp.2013.12101376r
PG 2
WC Psychiatry
SC Psychiatry
GA 117AW
UT WOS:000316925500019
PM 23545798
ER
PT J
AU Crump, C
Rivera, D
London, R
Landau, M
Erlendson, B
Rodriguez, E
AF Crump, Casey
Rivera, Diana
London, Rebecca
Landau, Melinda
Erlendson, Bill
Rodriguez, Eunice
TI Chronic health conditions and school performance among children and
youth
SO ANNALS OF EPIDEMIOLOGY
LA English
DT Article
DE Achievement; Chronic disease; Schools; Students
ID ATTENTION-DEFICIT HYPERACTIVITY; HUMAN-CAPITAL ACCUMULATION;
ACADEMIC-PERFORMANCE; UNITED-STATES; MENTAL-HEALTH; FOLLOW-UP; ASTHMA;
ADHD; ACHIEVEMENT; CHILDHOOD
AB Purpose: Chronic health conditions are common and increasing among U.S. children and youth. We examined whether chronic health conditions are associated with low school performance.
Methods: This retrospective cohort study of 22,730 children and youth (grades 2-11) in San Jose, California, was conducted from 2007 through 2010. Health conditions were defined as chronic if reported in each of the first 2 years, and school performance was measured using standardized English language arts (ELA) and math assessments.
Results: Chronic health conditions were independently associated with low ELA and math performance, irrespective of ethnicity, socioeconomic status, or grade level. Adjusted odds ratios for the association between any chronic health condition and low ("basic or below") performance were 1.25 (95% confidence interval [CI], 1.16-1.36; P < .001) for ELA and 1.28 (95% CI, 1.18-1.38; P < .001) for math, relative to students without reported health conditions. Further adjustment for absenteeism had little effect on these results. The strongest associations were found for ADHD, autism, and seizure disorders, whereas a weak association was found for asthma before but not after adjusting for absenteeism, and no associations were found for cardiovascular disorders or diabetes.
Conclusions: Chronic neurodevelopmental and seizure disorders, but not cardiovascular disorders or diabetes, were independently associated with low school performance among children and youth. (c) 2013 Elsevier Inc. All rights reserved.
C1 [Crump, Casey] Stanford Univ, Dept Med, Stanford, CA 94305 USA.
[Rivera, Diana; Rodriguez, Eunice] Stanford Univ, Dept Pediat, Stanford, CA 94305 USA.
[London, Rebecca] Stanford Univ, Grad Sch Educ, John W Gardner Ctr, Stanford, CA 94305 USA.
[Landau, Melinda; Erlendson, Bill] San Jose Unified Sch Dist, San Jose, CA USA.
RP Crump, C (reprint author), 211 Quarry Rd,Suite 405,MC 5985, Palo Alto, CA 94304 USA.
EM kccrump@stanford.edu
FU Lucile Packard Foundation for Children's Health; Lucile Packard
Children's Hospital, Palo Alto, California
FX Supported in part by grants from the Lucile Packard Foundation for
Children's Health and the Lucile Packard Children's Hospital, Palo Alto,
California. The sponsors had no role in the design and conduct of the
study; in the collection, analysis, and interpretation of the data; or
in the preparation, review, or approval of the manuscript. There were no
conflicts of interest.
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NR 37
TC 5
Z9 5
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1047-2797
J9 ANN EPIDEMIOL
JI Ann. Epidemiol.
PD APR
PY 2013
VL 23
IS 4
BP 179
EP 184
DI 10.1016/j.annepidem.2013.01.001
PG 6
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA 117TO
UT WOS:000316976200004
PM 23415278
ER
PT J
AU Bui, LTD
Moore, DW
Anderson, A
AF Bui, Lilly T. D.
Moore, Dennis W.
Anderson, Angelika
TI Using Escape Extinction and Reinforcement to Increase Eating in a Young
Child with Autism
SO BEHAVIOUR CHANGE
LA English
DT Article
DE autism; feeding difficulties; treatment package; escape extinction;
reinforcement
ID SINGLE-SUBJECT RESEARCH; SPECTRUM DISORDERS; FOOD SELECTIVITY; FEEDING
PROBLEMS; VALIDATION; ACCEPTANCE; BEHAVIORS; REFUSAL; ISSUES
AB Feeding problems that can lead to associated nutritionally related medical conditions and often cause stress and difficulties for parents are prevalent in children with autism. It is therefore important to target these problem behaviours through effective interventions. The present study was designed to trial a procedure comprised of escape extinction combined with positive reinforcement with the aim to reduce food refusals and increase eating in a child with autism. It was predicted that the intervention package would significantly reduce food refusals and increase eating and that any increase in food acceptance would be maintained and generalised to other behaviours related to feeding on termination of the intervention. The research design was a multiple baseline across settings. The results confirmed our predictions. It was concluded that the treatment package was effective at increasing food acceptance.
C1 [Bui, Lilly T. D.; Moore, Dennis W.; Anderson, Angelika] Monash Univ, Melbourne, Vic 3800, Australia.
RP Bui, LTD (reprint author), Monash Univ, Krongold Ctr, Fac Educ, Clayton Campus, Melbourne, Vic 3800, Australia.
EM ltbui2@student.monash.edu
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NR 23
TC 1
Z9 1
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0813-4839
J9 BEHAV CHANGE
JI Behav. Change
PD APR
PY 2013
VL 30
IS 1
BP 48
EP 55
DI 10.1017/bec.2013.5
PG 8
WC Psychology, Clinical
SC Psychology
GA 117VC
UT WOS:000316980200005
ER
PT J
AU Satpute, AB
Shu, J
Weber, J
Roy, M
Ochsner, KN
AF Satpute, Ajay B.
Shu, Jocelyn
Weber, Jochen
Roy, Mathieu
Ochsner, Kevin N.
TI The Functional Neural Architecture of Self-Reports of Affective
Experience
SO BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Affect; emotion; fMRI; mental state attribution; neuroimaging;
self-report
ID AUTISM SPECTRUM DISORDERS; MEDIAL PREFRONTAL CORTEX; HUMAN AMYGDALA;
EMOTIONAL RESPONSES; MAGNETIC-RESONANCE; EMPATHIC ACCURACY; COGNITIVE
CONTROL; MAJOR DEPRESSION; SOCIAL COGNITION; ACTIVATION
AB Background: The ability to self-report on affective experience is essential to both our everyday communication about emotion and our scientific understanding of it. However, the underlying cognitive and neural mechanisms for how people construct statements even as simple as "I feel bad!" remain unclear. We examined whether the neural architecture underlying the ability to make statements about affective experience is composed of distinct functional systems.
Methods: In a novel functional magnetic neuroimaging paradigm, 20 participants were shown images varying in affective intensity; they were required either to attend to and judge the affective response versus to nonaffective aspects of the stimulus and either to categorize their response into a verbal label or report on a scale that did not require verbal labeling.
Results: We found that the ability to report on affective states involves (at least) three separable systems, one for directing attention to the affective response and making attributions about it that involves the dorsomedial prefrontal cortex, one for categorizing the response into a verbal label or word that involves the ventrolateral prefrontal cortex, and one sensitive to the intensity of the affective response including the ventral anterior insula and amygdala.
Conclusions: These results suggest that unified statements about affective experience rely on integrating information from several distinct neural systems. Results are discussed in the context of how disruptions to one or another of these systems may produce unique deficits in the ability to describe affective states and the implications this may hold for clinical populations.
C1 [Satpute, Ajay B.] Northeastern Univ, Dept Psychol, Boston, MA 02115 USA.
[Shu, Jocelyn; Weber, Jochen; Roy, Mathieu; Ochsner, Kevin N.] Columbia Univ, Dept Psychol, New York, NY 10025 USA.
[Roy, Mathieu] Univ Colorado, Dept Psychol & Neurosci, Boulder, CO 80309 USA.
RP Ochsner, KN (reprint author), Columbia Univ, Dept Psychol, 1190 Amsterdam Ave,MC 5501, New York, NY 10025 USA.
EM ochsner@psych.columbia.edu
FU National Institutes of Health [1 R01 MH076137-01 A1]
FX This research was supported by National Institutes of Health Grant No. 1
R01 MH076137-01 A1 awarded to Kevin Ochsner.
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NR 72
TC 9
Z9 9
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD APR 1
PY 2013
VL 73
IS 7
BP 631
EP 638
DI 10.1016/j.biopsych.2012.10.001
PG 8
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 113RL
UT WOS:000316685400008
PM 23146356
ER
PT J
AU Cushman, F
Sheketoff, R
Wharton, S
Carey, S
AF Cushman, Fiery
Sheketoff, Rachel
Wharton, Sophie
Carey, Susan
TI The development of intent-based moral judgment
SO COGNITION
LA English
DT Article
DE Morality; Development; Theory of mind; Moral luck
ID VENTROMEDIAL PREFRONTAL CORTEX; DAMAGE; MIND; RESPONSIBILITY;
INTENTIONALITY; PUNISHMENT; CHILDREN; AUTISM; RULES
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C1 [Cushman, Fiery] Brown Univ, Dept Cognit Linguist & Psychol Sci, Providence, RI 02912 USA.
[Sheketoff, Rachel; Carey, Susan] Harvard Univ, Dept Psychol, Cambridge, MA 02138 USA.
[Wharton, Sophie] NYU, Dept Psychol, New York, NY 10003 USA.
RP Cushman, F (reprint author), Brown Univ, Dept Cognit Linguist & Psychol Sci, 89 Waterman St, Providence, RI 02912 USA.
EM Fiery_Cushman@brown.edu
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NR 55
TC 9
Z9 9
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0010-0277
J9 COGNITION
JI Cognition
PD APR
PY 2013
VL 127
IS 1
BP 6
EP 21
DI 10.1016/j.cognition.2012.11.008
PG 16
WC Psychology, Experimental
SC Psychology
GA 112JS
UT WOS:000316589100002
PM 23318350
ER
PT J
AU Betalli, P
Carretto, E
Cananzi, M
Zanatta, L
Salvador, R
Galeazzi, F
Guariso, G
Gamba, P
Costantini, M
AF Betalli, P.
Carretto, E.
Cananzi, M.
Zanatta, L.
Salvador, R.
Galeazzi, F.
Guariso, G.
Gamba, P.
Costantini, M.
TI Autism and esophageal achalasia in childhood: a possible correlation?
Report on three cases
SO DISEASES OF THE ESOPHAGUS
LA English
DT Article
DE autism; children; dysphagia; esophageal achalasia
ID GASTROINTESTINAL DISORDERS; HELLERS MYOTOMY; CHILDREN; DIAGNOSIS;
MEASLES
AB Chronic gastrointestinal symptoms are commonly reported in autistic patients. Dysphagia is often present, and it is generally related to behavioral eating disorders. The association between autism and esophageal achalasia has not been described in literature yet. We report our experience with three cases of autistic children we recently treated for esophageal achalasia. In the first case (a 14-year-old male), achalasia was diagnosed with barium swallow and esophageal manometry and was successfully treated with three pneumatic endoscopic dilatations (follow-up: 3 years). In the second case (a 12-year-old female), achalasia was diagnosed with barium swallow and esophageal manometry and was treated with Heller myotomy after two unsuccessful pneumatic endoscopic attempts (follow-up: 3 months). In the last case, a 15-year-old male underwent barium swallow and endoscopy that confirmed achalasia. He was treated with Heller myotomy, and he is asymptomatic at a 6-month follow-up. To our knowledge, this is the first report of a possible association between autism and esophageal achalasia. Because of the rarity of both diseases, their association in the same patient is unlikely to be casual even if speculation on their common etiology is impossible at present. This finding needs further confirmation, but it is sufficient, in our opinion, to indicate proper evaluation with barium swallow and/or manometry in any autistic children with eating difficulty.
C1 [Betalli, P.; Carretto, E.; Cananzi, M.; Guariso, G.; Gamba, P.] Univ Padua, Dept Pediat, I-35128 Padua, Italy.
[Zanatta, L.; Salvador, R.; Costantini, M.] Univ Padua, Dept Surg & Gastroenterol Sci, Clin Chirurg 1, I-35128 Padua, Italy.
[Galeazzi, F.] Univ Padua, Dept Surg & Gastroenterol Sci, I-35128 Padua, Italy.
RP Carretto, E (reprint author), Univ Padua, Dept Pediat, Div Pediat Surg, 3 Via Giustiniani, I-35128 Padua, Italy.
EM carrettoelena@gmail.com
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NR 19
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1120-8694
J9 DIS ESOPHAGUS
JI Dis. Esophagus
PD APR
PY 2013
VL 26
IS 3
BP 237
EP 240
DI 10.1111/j.1442-2050.2012.01358.x
PG 4
WC Gastroenterology & Hepatology
SC Gastroenterology & Hepatology
GA 118DK
UT WOS:000317002800005
PM 22607127
ER
PT J
AU Waris, P
Lindberg, N
Kettunen, K
Tani, P
AF Waris, Petra
Lindberg, Nina
Kettunen, Kirsi
Tani, Pekka
TI The relationship between Asperger's syndrome and schizophrenia in
adolescence
SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
LA English
DT Article
DE Schizophrenia; Asperger's syndrome; Pervasive developmental disorder;
Adolescence; Comorbidity
ID PERVASIVE DEVELOPMENTAL DISORDER; CHILDHOOD-ONSET SCHIZOPHRENIA;
COMMUNICATION DISORDERS; DIAGNOSTIC INTERVIEW; SPECTRUM DISORDERS;
COMORBIDITY; CHILDREN; RELIABILITY; PREVALENCE; PSYCHOSIS
AB Asperger's syndrome (AS), a pervasive developmental disorder (PDD), has nowadays been widely advocated in media. Therefore, psychiatrists treating adolescents frequently meet patients as well as their families reporting of symptoms resembling those of Asperger's syndrome. It is known that symptoms of Asperger's syndrome have some overlap with those of schizophrenia, but less is known about comorbidity between these two syndromes. We describe a sample of 18 adolescents with early onset schizophrenia. Diagnosis of schizophrenia was based on assessment with Kiddie Schedule for Affective Disorders and Schizophrenia. The diagnostic interview for Social and Communication Disorders version 11 was used to assess autism spectrum disorders. Ten adolescents fulfilled symptom criteria of Asperger's syndrome after the onset of schizophrenia, while only two persons had Asperger's syndrome before the onset of schizophrenia, a prerequisite for diagnosis. 44 % of the adolescents fulfilled the diagnosis of some PDD in childhood. Most of them were, however, unrecognized before the onset of schizophrenia. On the other hand, all 18 patients had one or more symptoms of PDDS in adolescence. Adolescents with schizophrenia have often symptoms consistent with AS, although only few of them have fulfilled the diagnostic criteria in their childhood, a prerequisite for the diagnosis of AS. There is a risk for misdiagnosis of adolescents with autistic symptoms if detailed longitudinal anamnesis is not obtained.
C1 [Waris, Petra] Eteva Joint Municipal Author Disabil Serv, Kerava 04200, Finland.
[Lindberg, Nina] Univ Helsinki, Dept Adolescent Psychiat, Cent Hosp, Hus Helsinki 00029, Finland.
[Lindberg, Nina] Kellokoski Hosp, Dept Forens Psychiat, Kellokoski 00450, Finland.
[Kettunen, Kirsi] Kellokoski Hosp, Dept Adolescent Psychiat, Kellokoski 00450, Finland.
[Tani, Pekka] Univ Helsinki, Dept Psychiat, Cent Hosp, Hus Helsinki 00029, Finland.
RP Tani, P (reprint author), Univ Helsinki, Dept Psychiat, Cent Hosp, Tukholmankatu 8F,POB 442, Hus Helsinki 00029, Finland.
EM pekka.tani@hus.fi
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NR 27
TC 3
Z9 3
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1018-8827
J9 EUR CHILD ADOLES PSY
JI Eur. Child Adolesc. Psych.
PD APR
PY 2013
VL 22
IS 4
BP 217
EP 223
DI 10.1007/s00787-012-0338-x
PG 7
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA 118EY
UT WOS:000317007400003
PM 23065028
ER
PT J
AU Chen, LS
Xu, L
Huang, TY
Dhar, SU
AF Chen, Lei-Shih
Xu, Lei
Huang, Tse-Yang
Dhar, Shweta U.
TI Autism genetic testing: a qualitative study of awareness, attitudes, and
experiences among parents of children with autism spectrum disorders
SO GENETICS IN MEDICINE
LA English
DT Article
DE attitude; autism spectrum disorders; awareness; genetic testing; parents
ID FRAGILE-X-SYNDROME; CANCER; PEDIATRICIANS; MUTATIONS; KNOWLEDGE;
PHYSICIAN; BELIEFS; BRCA2
AB Purpose: The goal of this first-of-its-kind qualitative study was to examine the awareness, attitudes, and experiences among parents of autistic children regarding autism genetic testing.
Methods: We conducted in-depth, individual, and semistructured interviews with 42 parents of autistic children with diverse racial/ethnic backgrounds. All interviews were audio-taped, transcribed, and coded into major themes and subthemes.
Results: Approximately one-quarter of participants had two or more autistic children, and about half of them were ethnic/racial minorities. The majority of participants postulated favorable attitudes toward autism genetic testing for three main reasons: early intervention and treatment, identifying the etiology of autism, and informed family planning. Nevertheless, among parents who had taken their children for genetic testing, some expressed frustration and questioned the competency of their providers in interpreting test results. Asian parents and those with a low socioeconomic status expressed lower awareness and tended to have more limited access to autism genetic testing.
Conclusion: As health-care providers play a vital role in providing genetic services and education, these professionals should be educated and be sensitive to the needs of parents with autistic children. Further quantitative research is required to examine the effects of socio-demographic factors on parents' awareness, attitudes, and experiences regarding autism genetic testing. Genet Med 2013:15(4):274-281
C1 [Chen, Lei-Shih; Xu, Lei] Texas A&M Univ, Dept Hlth & Kinesiol, College Stn, TX 77840 USA.
[Huang, Tse-Yang] Natl Hsinchu Univ Educ, Dept Special Educ, Hsinchu, Taiwan.
[Dhar, Shweta U.] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
RP Chen, LS (reprint author), Texas A&M Univ, Dept Hlth & Kinesiol, College Stn, TX 77840 USA.
EM lace@hlkn.tamu.edu
FU Texas AM University
FX This study was funded through Lei-Shih Chen's grant-Texas A&M
University's Program to Enhance Scholarly and Creative Activities. We
thank Tung-Sung Tseng, Laura Stough, Elsa M. Gonzalez y Gonzalez, Corey
Parshall, Allison Hollek, Eunju Jung, and Champa Joshi for their
assistance with this study.
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NR 39
TC 2
Z9 2
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1098-3600
J9 GENET MED
JI Genet. Med.
PD APR
PY 2013
VL 15
IS 4
BP 274
EP 281
DI 10.1038/gim.2012.145
PG 8
WC Genetics & Heredity
SC Genetics & Heredity
GA 118OR
UT WOS:000317035400006
PM 23288207
ER
PT J
AU Dolcetti, A
Silversides, CK
Marshall, CR
Lionel, AC
Stavropoulos, DJ
Scherer, SW
Bassett, AS
AF Dolcetti, Alessia
Silversides, Candice K.
Marshall, Christian R.
Lionel, Anath C.
Stavropoulos, Dimitri J.
Scherer, Stephen W.
Bassett, Anne S.
TI 1q21.1 Microduplication expression in adults
SO GENETICS IN MEDICINE
LA English
DT Article
DE 1q21.1 duplication; copy-number variation; macrocephaly; schizophrenia;
tetralogy of Fallot
ID COPY NUMBER VARIANTS; CONGENITAL HEART-DISEASE; DE-NOVO CNVS; CHROMOSOME
1Q21.1; BIPOLAR-DISORDER; HUMAN GENOME; SCHIZOPHRENIA; AUTISM;
DUPLICATIONS; REARRANGEMENTS
AB Purpose: Rare, recurrent chromosome 1q21.1 duplications have been associated with developmental delay, congenital anomalies, and macrocephaly in children. Data on adult clinical expression would help to inform genetic counseling.
Methods: A systematic review of 22 studies reporting 107 individuals (59 children and 48 adults) with 1q21.1 duplications was conducted. We compiled the available phenotypic data to attempt to identify the most highly associated clinical features and to determine expression in adults. We also report on seven adult cases newly identified in the studies of schizophrenia and tetralogy of Fallot at our center.
Results: Five cases were ascertained as controls, 32 as relatives of probands, and 70 as having clinical features: autism spectrum disorder (n = 15), congenital heart disease (n = 12), schizophrenia (n = 10), or other, mostly developmental, features (n = 33). The 1q21.1 duplication was significantly enriched in the cohorts with schizophrenia (P = 0.0155) and tetralogy of Fallot (P = 0.0040) at our center as compared with controls. There was a paucity of clinical data for adults; the most common features, other than those used for ascertainment, included macrocephaly and abnormalities of possible connective tissue origin (e. g., carpal tunnel syndrome).
Conclusion: Further data are needed to characterize lifetime expression of 1q21.1 duplications. These initial results, however, suggest that anticipatory care should include attention to later-onset conditions such as schizophrenia. Genet Med 2013:15(4):282-289
C1 [Dolcetti, Alessia; Bassett, Anne S.] Ctr Addict & Mental Hlth, Clin Genet Res Program, Toronto, ON, Canada.
[Silversides, Candice K.; Bassett, Anne S.] Univ Hlth Network, Dept Med, Div Cardiol, Toronto, ON, Canada.
[Silversides, Candice K.] Toronto Gen Hosp, Toronto Congenital Cardiac Ctr Adults, Toronto, ON, Canada.
[Marshall, Christian R.; Lionel, Anath C.; Scherer, Stephen W.] Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1X8, Canada.
[Marshall, Christian R.; Lionel, Anath C.; Scherer, Stephen W.] Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON M5G 1X8, Canada.
[Marshall, Christian R.; Lionel, Anath C.; Scherer, Stephen W.] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.
[Marshall, Christian R.; Lionel, Anath C.; Scherer, Stephen W.] Univ Toronto, McLaughlin Ctr, Toronto, ON, Canada.
[Stavropoulos, Dimitri J.] Hosp Sick Children, Cytogenet Lab, Dept Pediat Lab Med, Toronto, ON M5G 1X8, Canada.
[Stavropoulos, Dimitri J.] Univ Toronto, Dept Lab Med & Pathol, Toronto, ON, Canada.
[Bassett, Anne S.] Univ Toronto, Dept Psychiat, Toronto, ON, Canada.
RP Bassett, AS (reprint author), Ctr Addict & Mental Hlth, Clin Genet Res Program, Toronto, ON, Canada.
EM anne.bassett@utoronto.ca
RI Scherer, Stephen /B-3785-2013
OI Scherer, Stephen /0000-0002-8326-1999
FU Canadian Institutes of Health Research [MOP-89066, MOP-53216,
MOP-97800]; University of Toronto
FX This study was supported by Canadian Institutes of Health Research
grants (MOP-89066, MOP-53216, and MOP-97800) and a University of Toronto
Excellence Award in the Social Sciences and Humanities (to A. D.). A. S.
B. holds the Canada Research Chair in Schizophrenia Genetics and Genomic
Disorders. The authors thank the patients and their families for their
participation, research assistants and staff at the Toronto Congenital
Cardiac Centre for Adults, staff at The Centre for Applied Genomics, and
fellows and students who assisted in the collection and analysis of
data.
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NR 40
TC 8
Z9 8
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 APR
PY 2013
VL 15
IS 4
BP 282
EP 289
DI 10.1038/gim.2012.129
PG 8
WC Genetics & Heredity
SC Genetics & Heredity
GA 118OR
UT WOS:000317035400007
PM 23018752
ER
PT J
AU Bekele, E
Zheng, Z
Swanson, A
Crittendon, J
Warren, Z
Sarkar, N
AF Bekele, Esubalew
Zheng, Zhi
Swanson, Amy
Crittendon, Julie
Warren, Zachary
Sarkar, Nilanjan
TI Understanding How Adolescents with Autism Respond to Facial Expressions
in Virtual Reality Environments
SO IEEE TRANSACTIONS ON VISUALIZATION AND COMPUTER GRAPHICS
LA English
DT Article; Proceedings Paper
CT IEEE Virtual Reality Conference (VR)
CY MAR 16-23, 2013
CL Orlando, FL
SP IEEE, IEEE Comp Soc, IEEE Comp Soc Visualizat & Graph Tech Comm (VGTC)
DE 3D Interaction; multimodal interaction; psychology; usability; vr-based
response systems
ID SPECTRUM-DISORDER; YOUNG-CHILDREN; INTERVENTION; ATTENTION; EMOTIONS
AB Autism Spectrum Disorders (ASD) are characterized by atypical patterns of behaviors and impairments in social communication. Among the fundamental social impairments in the ASD population are challenges in appropriately recognizing and responding to facial expressions. Traditional intervention approaches often require intensive support and well-trained therapists to address core deficits, with many with ASD having tremendous difficulty accessing such care due to lack of available trained therapists as well as intervention costs. As a result, emerging technology such as virtual reality (VR) has the potential to offer useful technology-enabled intervention systems. In this paper, an innovative VR-based facial emotional expression presentation system was developed that allows monitoring of eye gaze and physiological signals related to emotion identification to explore new efficient therapeutic paradigms. A usability study of this new system involving ten adolescents with ASD and ten typically developing adolescents as a control group was performed. The eye tracking and physiological data were analyzed to determine intragroup and intergroup variations of gaze and physiological patterns. Performance data, eye tracking indices and physiological features indicated that there were differences in the way adolescents with ASD process and recognize emotional faces compared to their typically developing peers. These results will be used in the future for an online adaptive VR-based multimodal social interaction system to improve emotion recognition abilities of individuals with ASD.
C1 [Bekele, Esubalew; Zheng, Zhi] Vanderbilt Univ, Dept EECS, Nashville, TN 37240 USA.
[Swanson, Amy] Vanderbilt Univ, Nashville, TN USA.
[Crittendon, Julie; Warren, Zachary] Vanderbilt Univ, Dept Pediat & Psychiat, Nashville, TN USA.
[Sarkar, Nilanjan] Vanderbilt Univ, Dept Mech Engn, Nashville, TN USA.
RP Bekele, E (reprint author), Vanderbilt Univ, Dept EECS, Nashville, TN 37240 USA.
EM esubalew.bekele@vanderbilt.edu; zhi.zheng@vanderbilt.edu;
amy.r.swanson@vanderbilt.edu; julie.a.crittendon@vanderbilt.edu;
zachary.e.warren@vanderbilt.edu; nilanjan.sarkar@vanderbilt.edu
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NR 44
TC 7
Z9 7
PU IEEE COMPUTER SOC
PI LOS ALAMITOS
PA 10662 LOS VAQUEROS CIRCLE, PO BOX 3014, LOS ALAMITOS, CA 90720-1314 USA
SN 1077-2626
J9 IEEE T VIS COMPUT GR
JI IEEE Trans. Vis. Comput. Graph.
PD APR
PY 2013
VL 19
IS 4
BP 711
EP 720
PG 10
WC Computer Science, Software Engineering
SC Computer Science
GA 109ZB
UT WOS:000316409700026
PM 23428456
ER
PT J
AU Chebuhar, A
McCarthy, AM
Bosch, J
Baker, S
AF Chebuhar, Amy
McCarthy, Ann Marie
Bosch, Joni
Baker, Sue
TI Using Picture Schedules in Medical Settings for Patients With an Autism
Spectrum Disorder
SO JOURNAL OF PEDIATRIC NURSING-NURSING CARE OF CHILDREN & FAMILIES
LA English
DT Article
DE Autism; Picture schedules; Anxiety
ID MENTAL-RETARDATION; ON-SCHEDULE; CHILDREN; TASK; MANAGEMENT; ANXIETY;
ENGAGEMENT; BEHAVIORS; ADULTS; HOME
AB Autism is a neurobiological disorder that compromises ability to communicate and can be accompanied by anxiety, particularly for those in unfamiliar settings with unknown people. To improve communication, children with autism often relate well to pictures; however the literature describes no studies of picture schedules for patients with autism in medical settings. Our pilot project demonstrates how picture schedules for medical settings can relieve anxiety in children with autism and suggests that this approach should be employed as an innovative way to interact with patients with autism. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Chebuhar, Amy] Southeast Polk Community Sch Dist, Altoona, IA USA.
[McCarthy, Ann Marie] Univ Iowa, Coll Nursing, Iowa City, IA 52242 USA.
[Bosch, Joni] Univ Iowa, Childrens Hosp, Iowa City, IA USA.
[Baker, Sue] Univ Iowa, Child Hlth Specialty Clin, Iowa Dept Educ, Iowa City, IA USA.
RP Chebuhar, A (reprint author), Southeast Polk Community Sch Dist, Altoona, IA USA.
EM Amy.chebuhar@southeastpolk.org
FU University of Iowa Hospitals and Clinics Children's Miracle Network;
University of Iowa Hospitals and Clinics Process Improvement Grant
FX This project was funded by the University of Iowa Hospitals and Clinics
Children's Miracle Network and by a University of Iowa Hospitals and
Clinics Process Improvement Grant. The authors would like to acknowledge
the kids who are so brave in dealing with the day to day challenges that
come with having autism; and the parents, who fight and advocate with
unending persistence for equality and understanding among society for
their children. The first author would also like to acknowledge his son,
Carter, who provides daily inspiration to find answers and solutions to
the challenges of autism, and for being such a trooper for enduring it
all.
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NR 37
TC 1
Z9 1
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0882-5963
J9 J PEDIATR NURS
JI J. Pediatr. Nurs.
PD APR
PY 2013
VL 28
IS 2
BP 125
EP 134
DI 10.1016/j.pedn.2012.05.004
PG 10
WC Nursing; Pediatrics
SC Nursing; Pediatrics
GA 115WN
UT WOS:000316842700004
PM 22742928
ER
PT J
AU Hoogsteen, L
Woodgate, RL
AF Hoogsteen, Lindsey
Woodgate, Roberta Lynne
TI Centering Autism Within the Family: A Qualitative Approach to Autism and
the Family
SO JOURNAL OF PEDIATRIC NURSING-NURSING CARE OF CHILDREN & FAMILIES
LA English
DT Article
DE Autism; Qualitative research method; Health care professionals
ID HEALTH-CARE NEEDS; SPECTRUM DISORDERS; CHILDREN; DISABILITIES; PARENTS;
MANAGEMENT; STIGMA
AB The lived experience of parents of children with autism living in a rural area was explored through a phenomenological approach. Twenty-eight parents from multiple rural communities participated in semi-structured interviews. Van Manen's (1990) selective highlighting approach was used to isolate thematic statements of the experience. Findings revealed that autism became centered within the family thereby affecting how parents parented. Parenting now included: (a) multiple roles; (b) an intense focus on their child's needs; and (c) finding a balance. Although parents acquired multiple roles and faced many unmet needs, parents were determined to strive for balance within the family. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Hoogsteen, Lindsey; Woodgate, Roberta Lynne] Univ Manitoba, Fac Nursing, Winnipeg, MB, Canada.
RP Hoogsteen, L (reprint author), Univ Manitoba, Fac Nursing, Winnipeg, MB, Canada.
EM umhoogsl@cc.umanitoba.ca
RI Woodgate, Roberta/B-9038-2014
FU Manitoba Health Research Council; Foundation for Registered Nurses of
Manitoba Inc; Child Health Graduate Studentship
FX Dr. Woodgate has a Manitoba Research Chair awarded by the Manitoba
Health Research Council.The authors disclosed receipt of this following
financial support for the research and/or authorship of this article:
The Foundation for Registered Nurses of Manitoba Inc and the Child
Health Graduate Studentship.
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TC 4
Z9 4
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0882-5963
J9 J PEDIATR NURS
JI J. Pediatr. Nurs.
PD APR
PY 2013
VL 28
IS 2
BP 135
EP 140
DI 10.1016/j.pedn.2012.06.002
PG 6
WC Nursing; Pediatrics
SC Nursing; Pediatrics
GA 115WN
UT WOS:000316842700005
PM 22819746
ER
PT J
AU Dinsdale, N
Crespi, BJ
AF Dinsdale, Natalie
Crespi, Bernard J.
TI THE BORDERLINE EMPATHY PARADOX: EVIDENCE AND CONCEPTUAL MODELS FOR
EMPATHIC ENHANCEMENTS IN BORDERLINE PERSONALITY DISORDER
SO JOURNAL OF PERSONALITY DISORDERS
LA English
DT Article
ID HIGH-FUNCTIONING AUTISM; EMOTIONAL INTELLIGENCE; FACIAL EXPRESSIONS;
ASPERGER-SYNDROME; REJECTION SENSITIVITY; SOCIAL COGNITION; MIND;
RECOGNITION; SCHIZOPHRENIA; ADULTS
AB Empirical evidence and therapeutic interactions have suggested that individuals with borderline personality disorder (BPD) may demonstrate enhancements in aspects of social-emotional cognition. To assess the empirical evidence for this phenomenon, and to comprehensively evaluate alternative hypotheses for its possible role in BPD etiology and symptoms, the authors systematically searched the literature for investigations of empathy in BPD and reviewed 28 studies assessing a range of empathic abilities. Considered together, these data demonstrated comparable levels of evidence for enhanced, preserved, and reduced empathic skills in individuals with BPD. Evidence for empathic enhancements is thus substantial but inconsistent across studies, being found mainly under more socially interactive experimental paradigms. Based on the results of the review and previous explanations for BPD symptoms, the authors propose a new model for explaining the borderline paradox: that a combination of increased attention to social stimuli and dysfunctional social information processing may account in part for the specific empathic enhancements and reduced overall social functioning in BPD.
C1 [Dinsdale, Natalie; Crespi, Bernard J.] Simon Fraser Univ, Burnaby, BC V5A 1S6, Canada.
RP Crespi, BJ (reprint author), Simon Fraser Univ, Burnaby, BC V5A 1S6, Canada.
EM crespi@sfu.ca
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NR 93
TC 6
Z9 6
PU GUILFORD PUBLICATIONS INC
PI NEW YORK
PA 72 SPRING STREET, NEW YORK, NY 10012 USA
SN 0885-579X
J9 J PERS DISORD
JI J. Pers. Disord.
PD APR
PY 2013
VL 27
IS 2
BP 172
EP 195
PG 24
WC Psychiatry
SC Psychiatry
GA 115RL
UT WOS:000316829500004
PM 23514182
ER
PT J
AU Carter, SE
Hanson, A
Bravey, C
Al Kabir, N
AF Carter, Sophie E.
Hanson, Anita
Bravey, Clare
Al Kabir, Nagat
TI How to use ... an autism assessment tool
SO ARCHIVES OF DISEASE IN CHILDHOOD-EDUCATION AND PRACTICE EDITION
LA English
DT Article
ID DIAGNOSTIC OBSERVATION SCHEDULE; ADOS REVISED ALGORITHM; SPECTRUM
DISORDERS; PREVALENCE; CHILDREN; ADOLESCENTS; COHORT
C1 [Carter, Sophie E.] Birmingham Community Healthcare Trust, Allenscroft Child Dev Ctr, Birmingham B14 6RP, W Midlands, England.
[Hanson, Anita] Derbyshire Healthcare Fdn Trust, Community Paediat, Derby, England.
[Bravey, Clare] Birmingham Childrens Hosp, Gen Paediat, Birmingham, W Midlands, England.
[Al Kabir, Nagat] Birmingham Community Healthcare Trust, Specialist Childrens Serv, Birmingham B14 6RP, W Midlands, England.
RP Carter, SE (reprint author), Birmingham Community Healthcare Trust, Allenscroft Child Dev Ctr, Allenscroft Rd, Birmingham B14 6RP, W Midlands, England.
EM sophie.carter@bhamcommunity.nhs.uk
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NR 21
TC 1
Z9 1
PU BMJ PUBLISHING GROUP
PI LONDON
PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
SN 1743-0585
J9 ARCH DIS CHILDHOOD-E
JI Arch. Dis. Childhood-Educ. Pract. Ed.
PD APR
PY 2013
VL 98
IS 2
BP 58
EP 63
DI 10.1136/archdischild-2012-301861
PG 6
WC Pediatrics
SC Pediatrics
GA 105ZQ
UT WOS:000316111600005
PM 23213140
ER
EF