FN Thomson Reuters Web of Science™
VR 1.0
PT J
AU Xia, K
Guo, H
Hu, Z
Xun, G
Zuo, L
Peng, Y
Wang, K
He, Y
Xiong, Z
Sun, L
Pan, Q
Long, Z
Zou, X
Li, X
Li, W
Xu, X
Lu, L
Liu, Y
Hu, Y
Tian, D
Long, L
Ou, J
Liu, Y
Li, X
Zhang, L
Pan, Y
Chen, J
Peng, H
Liu, Q
Luo, X
Su, W
Wu, L
Liang, D
Dai, H
Yan, X
Feng, Y
Tang, B
Li, J
Miedzybrodzka, Z
Xia, J
Zhang, Z
Luo, X
Zhang, X
St Clair, D
Zhao, J
Zhang, F
AF Xia, K.
Guo, H.
Hu, Z.
Xun, G.
Zuo, L.
Peng, Y.
Wang, K.
He, Y.
Xiong, Z.
Sun, L.
Pan, Q.
Long, Z.
Zou, X.
Li, X.
Li, W.
Xu, X.
Lu, L.
Liu, Y.
Hu, Y.
Tian, D.
Long, L.
Ou, J.
Liu, Y.
Li, X.
Zhang, L.
Pan, Y.
Chen, J.
Peng, H.
Liu, Q.
Luo, X.
Su, W.
Wu, L.
Liang, D.
Dai, H.
Yan, X.
Feng, Y.
Tang, B.
Li, J.
Miedzybrodzka, Z.
Xia, J.
Zhang, Z.
Luo, X.
Zhang, X.
St Clair, D.
Zhao, J.
Zhang, F.
TI Common genetic variants on 1p13.2 associate with risk of autism
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE association fine mapping; autism; common genetic variants; genome-wide
association study; human genetics
ID DE-NOVO MUTATIONS; LINKED MENTAL-RETARDATION; COPY NUMBER VARIATION;
GENOME-WIDE LINKAGE; SPECTRUM DISORDERS; UBIQUITIN; REVEALS; SCAN;
ENCODES; COMPLEX
AB Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery (n = 2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P = 4.49 x 10(-8) ), non-synonymous rs6537835 (P = 3.26 x 10(-8)) and rs1877455 (P = 8.70 x 10(-8)), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis-acting regulatory effect on the gene expressions of CSDE1, NRAS and TRIM33 and by differential expression of CSDE1 and TRIM33 in the human prefrontal cortex of post-mortem brains between subjects with and those without autism. Our study suggests TRIM33 and NRAS-CSDE1 as candidate genes for autism, and may provide a novel insight into the etiology of autism.
C1 [Xia, K.; Guo, H.; Hu, Z.; Peng, Y.; Xiong, Z.; Pan, Q.; Long, Z.; Li, X.; Li, W.; Xu, X.; Lu, L.; Liu, Y.; Hu, Y.; Tian, D.; Long, L.; Zhang, L.; Pan, Y.; Chen, J.; Peng, H.; Liu, Q.; Su, W.; Wu, L.; Liang, D.; Dai, H.; Yan, X.; Feng, Y.; Tang, B.; Li, J.; Xia, J.; Zhang, Z.; Zhao, J.] Cent S Univ, State Key Lab Med Genet, Changsha 410078, Hunan, Peoples R China.
[Xia, K.; Guo, H.; Hu, Z.; Peng, Y.; Xiong, Z.] Cent S Univ, Sch Biol Sci & Technol, Changsha 410078, Hunan, Peoples R China.
[Guo, H.; St Clair, D.; Zhang, F.] NIMH, Div Intramural Res Programs, NIH, Bethesda, MD 20892 USA.
[Xun, G.; He, Y.; Ou, J.; Liu, Y.; Li, X.; Luo, X.; Zhao, J.] Cent S Univ, Xiangya Hosp 2, Mental Hlth Inst, Changsha 410078, Hunan, Peoples R China.
[Zuo, L.; Luo, X.] Yale Univ, Dept Psychiat, New Haven, CT 06520 USA.
[Wang, K.; Zhang, X.] State Key Lab Incubation Base Dermatol, Hefei, Anhui, Peoples R China.
[Zou, X.] Sun Yat Sen Univ, Hosp 3, Dept Pediat, Guangzhou, Guangdong, Peoples R China.
[Yan, X.; Feng, Y.; Tang, B.] Cent S Univ, Xiangya Hosp, Changsha 410078, Hunan, Peoples R China.
[Miedzybrodzka, Z.; St Clair, D.] Univ Aberdeen, Royal Cornhill Hosp, Aberdeen, Scotland.
[Zhang, F.] Johns Hopkins Univ, Lieber Inst Brain Dev, Baltimore, MD USA.
RP Xia, K (reprint author), Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China.
EM xiakun48@163.com; zhaojingpingcsu@163.com; fzhang20@jhmi.edu
RI zhu, caihong/A-1628-2015
FU Autism Genetic Resources Exchange (AGRE); Simons Foundation for Autism
Research Initiative (SFARI); National Basic Research Program of China
[2012CB517900, 2011CB510002]; National Natural Science Foundation of
China [81330027, 81161120544]; National Alliance for Research on
Schizophrenia and Depression (NARSAD) [17616]; National Institute of
Mental Health, The National Institutes of Health in the United States
FX We are grateful to all the children with autism, their families and to
the normal controls who participated in this study. We thank Autism
Speaks for sharing resources from the Autism Genetic Resources Exchange
(AGRE), the Simons Foundation for Autism Research Initiative (SFARI) for
providing data from the Simons Simplex Collection (SCC), the NIH GWAS
Data Repository (AGP data set: phs000267.v1.p1) and the Contributing
Investigator(s) who contributed the phenotype and genotype data from
his/her original studies. We also thank Mr Tianzhang Ye, Dr Carlo
Colantuoni and Dr Joel E Kleinman for assisting in accessing the brain
expression data and Dr Elizabeth Sherman for comments. The research was
supported by the National Basic Research Program of China (2012CB517900,
2011CB510002), the National Natural Science Foundation of China
(81330027, 81161120544), the National Alliance for Research on
Schizophrenia and Depression (NARSAD) Award (17616 to LZ) and Intramural
Research Program funding from the National Institute of Mental Health,
The National Institutes of Health in the United States.
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NR 37
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD NOV
PY 2014
VL 19
IS 11
BP 1212
EP 1219
DI 10.1038/mp.2013.146
PG 8
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AR5ZT
UT WOS:000343662300010
PM 24189344
ER
PT J
AU Nishijo, M
Pham, TT
Nguyen, ATN
Tran, NN
Nakagawa, H
Hoang, LV
Tran, AH
Morikawa, Y
Ho, MD
Kido, T
Nguyen, MN
Nguyen, HM
Nishijo, H
AF Nishijo, M.
Pham, T. T.
Nguyen, A. T. N.
Tran, N. N.
Nakagawa, H.
Hoang, L. V.
Tran, A. H.
Morikawa, Y.
Ho, M. D.
Kido, T.
Nguyen, M. N.
Nguyen, H. M.
Nishijo, H.
TI 2,3,7,8-Tetrachlorodibenzo-p-dioxin in breast milk increases autistic
traits of 3-year-old children in Vietnam
SO MOLECULAR PSYCHIATRY
LA English
DT Article
ID MATERNAL EXPOSURE; DIOXIN EXPOSURE; POLYCHLORINATED-BIPHENYLS; HEAD
CIRCUMFERENCE; DEVELOPING BRAIN; PREVALENCE; SPECTRUM; DISORDERS;
DIAGNOSIS; INFANTS
AB Dioxin levels in the breast milk of mothers residing near a contaminated former airbase in Vietnam remain much higher than in unsprayed areas, suggesting high perinatal dioxin exposure for their infants. The present study investigated the association of perinatal dioxin exposure with autistic traits in 153 3-year-old children living in a contaminated area in Vietnam. The children were followed up from birth using the neurodevelopmental battery Bayley-III. The high-2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) exposed groups (>= 3.5 pg per g fat) showed significantly higher Autism Spectrum Rating Scale (ASRS) scores for both boys and girls than the mild-TCDD exposed groups, without differences in neurodevelopmental scores. In contrast, the high total dioxin-exposed group, indicated by polychlorinated dibenzo-p-dioxins/furans (PCDDs/Fs)-the toxic equivalents (TEQ) levels >= 17.9 pg-TEQ per g fat, had significantly lower neurodevelopmental scores than the mild-exposed group in boys, but there was no difference in the ASRS scores. The present study demonstrates a specific impact of perinatal TCDD on autistic traits in childhood, which is different from the neurotoxicity of total dioxins (PCDDs/Fs).
C1 [Nishijo, M.; Nguyen, A. T. N.; Tran, N. N.; Nakagawa, H.] Kanazawa Med Univ, Dept Publ Hlth, Uchinada, Ishikawa 9200293, Japan.
[Pham, T. T.; Hoang, L. V.; Tran, A. H.; Nguyen, M. N.; Nguyen, H. M.] Vietnam Mil Med Univ, Biomed & Pharmaceut Res Ctr, Hanoi, Vietnam.
[Morikawa, Y.] Kanazawa Med Univ, Sch Nursing, Uchinada, Ishikawa 9200293, Japan.
[Ho, M. D.; Kido, T.] Kanazawa Univ, Fac Hlth Sci, Inst Med Pharmaceut & Hlth Sci, Kanazawa, Ishikawa 9201192, Japan.
[Nguyen, M. N.; Nguyen, H. M.; Nishijo, H.] Toyama Univ, Grad Sch Med & Pharmaceut Sci, Syst Emot Sci, Toyama 930, Japan.
RP Nishijo, M (reprint author), Kanazawa Med Univ, Dept Publ Hlth, 1-1 Daigaku, Uchinada, Ishikawa 9200293, Japan.
EM ni-koei@kanazawa-med.ac.jp
FU JSPS (Japan Society for the Promotion of Science) Asian Core Program and
the Japan Society for the Promotion of Science [25305024, 25290005]
FX We thank the medical staffs in the Health Department of Da Nang city,
Thanh Khe and Son Tra district hospitals and 17 commune health centers
of Thanh Khe and Son Tra districts for their enthusiastic
collaborations. This work was supported by the JSPS (Japan Society for
the Promotion of Science) Asian Core Program and the Japan Society for
the Promotion of Science (Grant-in-Aid for Scientific Research (B)
(25305024) and (25290005)). None of the founders had role in the study
design, sample collection, analysis, interpretation of data, writing the
report or decision to submit the manuscript for publication.
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NR 43
TC 3
Z9 3
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD NOV
PY 2014
VL 19
IS 11
BP 1220
EP 1226
DI 10.1038/mp.2014.18
PG 7
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AR5ZT
UT WOS:000343662300011
PM 24637425
ER
PT J
AU Szczesna, K
de la Caridad, O
Petazzi, P
Soler, M
Roa, L
Saez, MA
Fourcade, S
Pujol, A
Artuch-Iriberri, R
Molero-Luis, M
Vidal, A
Huertas, D
Esteller, M
AF Szczesna, Karolina
de la Caridad, Olga
Petazzi, Paolo
Soler, Marta
Roa, Laura
Saez, Mauricio A.
Fourcade, Stephane
Pujol, Aurora
Artuch-Iriberri, Rafael
Molero-Luis, Marta
Vidal, August
Huertas, Dori
Esteller, Manel
TI Improvement of the Rett Syndrome Phenotype in a Mecp2 Mouse Model Upon
Treatment with Levodopa and a Dopa-Decarboxylase Inhibitor
SO NEUROPSYCHOPHARMACOLOGY
LA English
DT Article
ID TYROSINE-HYDROXYLASE DEFICIENCY; MEDIUM SPINY NEURONS;
PARKINSONS-DISEASE; DOPAMINERGIC-NEURONS; MICROSCOPY IMAGES; MICE;
BRAIN; EXPRESSION; STRIATUM; INCREASE
AB Rett Syndrome is a neurodevelopmental autism spectrum disorder caused by mutations in the gene coding for methyl CpG-binding protein (MeCP2). The disease is characterized by abnormal motor, respiratory, cognitive impairment, and autistic-like behaviors. No effective treatment of the disorder is available. Mecp2 knockout mice have a range of physiological and neurological abnormalities that resemble the human syndrome and can be used as a model to interrogate new therapies. Herein, we show that the combined administration of Levodopa and a Dopa-decarboxylase inhibitor in RTT mouse models is well tolerated, diminishes RTT-associated symptoms, and increases life span. The amelioration of RTT symptomatology is particularly significant in those features controlled by the dopaminergic pathway in the nigrostratium, such as mobility, tremor, and breathing. Most important, the improvement of the RTT phenotype upon use of the combined treatment is reflected at the cellular level by the development of neuronal dendritic growth. However, much work is required to extend the duration of the benefit of the described preclinical treatment.
C1 [Szczesna, Karolina; de la Caridad, Olga; Petazzi, Paolo; Soler, Marta; Roa, Laura; Saez, Mauricio A.; Huertas, Dori; Esteller, Manel] IDIBELL, Bellvitge Biomed Res Inst, PEBC, Barcelona 08908, Catalonia, Spain.
[Fourcade, Stephane; Pujol, Aurora] IDIBELL, Bellvitge Biomed Res Inst, Neurometab Dis Lab, Barcelona 08908, Catalonia, Spain.
[Fourcade, Stephane; Pujol, Aurora] Univ Barcelona, Inst Neuropathol, Barcelona, Spain.
[Fourcade, Stephane; Pujol, Aurora; Artuch-Iriberri, Rafael; Molero-Luis, Marta] ISCIII, CIBERER, Ctr Biomed Res Rare Dis, Madrid, Spain.
[Pujol, Aurora; Esteller, Manel] ICREA, Barcelona, Spain.
[Artuch-Iriberri, Rafael; Molero-Luis, Marta] Hosp St Joan de Deu, Neurometab Unit, Barcelona, Spain.
[Vidal, August] IDIBELL, Bellvitge Univ Hosp, Bellvitge Biomed Res Inst, Dept Pathol, Barcelona 08908, Catalonia, Spain.
[Esteller, Manel] Univ Barcelona, Sch Med, Dept Physiol Sci 2, Barcelona, Spain.
RP Huertas, D (reprint author), IDIBELL, Hosp Duran & Reynals, Bellvitge Biomed Res Inst, PEBC, 3rd Floor,Ave Gran Via 199-203, Barcelona 08908, Catalonia, Spain.
EM dhuertas@idibell.cat; mesteller@idibell.cat
RI Fourcade, Stephane/N-4508-2014
OI Fourcade, Stephane/0000-0002-8031-5007
FU European Community [PITN-GA-2012-316758- EPITRAIN,
PITN-GA-2009-238242-DISCHROM]; ERC [268626-EPINORC]; E-RARE EuroRETT
network [PI071327]; GIBER on Rare Diseases (CIBERER) from the Carlos III
Health Institute; Fondation Lejeune (France); MINECO [SAF2011-22803,
CSD2006-00049]; Cellex Foundation; Botin Foundation; Catalan Association
for Rett Syndrome; Health and Science Departments of the Catalan
Government (Generalitat de Catalunya) [AGAUR 2009SGR1315, 2009SGR85]
FX This study was supported by the European Community's Seventh Framework
Program (FP7/2007-2013), under grant agreement PITN-GA-2012-316758-
EPITRAIN project and PITN-GA-2009-238242-DISCHROM; ERC grant agreement
268626-EPINORC project; the E-RARE EuroRETT network (PI071327) and the
GIBER on Rare Diseases (CIBERER) from the Carlos III Health Institute);
the Fondation Lejeune (France); MINECO projects SAF2011-22803,
CSD2006-00049; the Cellex Foundation; the Botin Foundation; the Catalan
Association for Rett Syndrome; and the Health and Science Departments of
the Catalan Government (Generalitat de Catalunya) projects AGAUR
2009SGR1315 and 2009SGR85. KS and PP are EPITRAIN Research Fellows; SF
is a Miguel Servet Researcher (CP11/00080); and ME and AP are ICREA
Research Professors.
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NR 55
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0893-133X
EI 1740-634X
J9 NEUROPSYCHOPHARMACOL
JI Neuropsychopharmacology
PD NOV
PY 2014
VL 39
IS 12
BP 2846
EP 2856
DI 10.1038/npp.2014.136
PG 11
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AR6GZ
UT WOS:000343682500014
PM 24917201
ER
PT J
AU Davis, EP
Pfaff, D
AF Davis, Elysia Poggi
Pfaff, Donald
TI Sexually dimorphic responses to early adversity: Implications for
affective problems and autism spectrum disorder
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Review
DE Sex differences; Prenatal; Stress; Early adversity; Autism; Anxiety;
Depression; Fetal programming; Placenta; Epigenetic
ID CORTICOTROPIN-RELEASING HORMONE; MATERNAL IMMUNE ACTIVATION; PERINATAL
RISK-FACTORS; SEX-DIFFERENCES; PRENATAL STRESS; BRAIN-DEVELOPMENT;
EARLY-LIFE; GLUCOCORTICOID EXPOSURE; PSYCHIATRIC-DISORDERS; INFANT
TEMPERAMENT
AB During gestation, development proceeds at a pace that is unmatched by any other stage of the life cycle. For these reasons the human fetus is particularly susceptible not only to organizing influences, but also to pathogenic disorganizing influences. Growing evidence suggests that exposure to prenatal adversity leads to neurological changes that underlie lifetime risks for mental illness. Beginning early in gestation, males and females show differential developmental trajectories and responses to stress. It is likely that sex-dependent organization of neural circuits during the fetal period influences differential vulnerability to mental health problems. We consider in this review evidence that sexually dimorphic responses to early life stress are linked to two developmental disorders: affective problems (greater female prevalence) and autism spectrum disorder (greater male prevalence). Recent prospective studies illustrating the neurodevelopmental consequences of fetal exposure to stress and stress hormones for males and females are considered here. Plausible biological mechanisms including the role of the sexually differentiated placenta are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Davis, Elysia Poggi] Univ Denver, Dept Psychol, Neurodev Res Program, Denver, CO 80208 USA.
[Davis, Elysia Poggi] Univ Calif Irvine, Dept Psychiat & Human Behav, Orange, CA 92868 USA.
[Pfaff, Donald] Rockefeller Univ, Neurobiol & Behav Lab, New York, NY 10021 USA.
RP Davis, EP (reprint author), Univ Denver, Dept Psychol, 2155 South Race St, Denver, CO 80208 USA.
EM Elysia.Davis@du.edu
FU NIH [R01 HD065823, R01 HD005751]
FX Ideas regarding androgen-dependent gene expression influencing the
development of autistic symptoms in boys were developed in collaboration
with Brett Abrahams, and associated wording benefited from help by
Sylvie Goldman, both at Albert Einstein School of Medicine. Hypotheses
related to sex specific responses to gestational stress exposures
involve collaboration with Laura M. Glynn at Chapman University and Curt
A. Sandman at the University of California, Irvine. Preparation of this
manuscript was supported in part by NIH awards R01 HD065823 to EPD and
R01 HD005751 to DWP.
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NR 122
TC 1
Z9 1
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 NOV
PY 2014
VL 49
BP 11
EP 25
DI 10.1016/j.psyneuen.2014.06.014
PG 15
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AR1KA
UT WOS:000343342900002
PM 25038479
ER
PT J
AU Pietropaolo, S
Goubran, MG
Joffre, C
Aubert, A
Lemaire-Mayo, V
Crusio, WE
Laye, S
AF Pietropaolo, Susanna
Goubran, Mina G.
Joffre, Corinne
Aubert, Agnes
Lemaire-Mayo, Valerie
Crusio, Wim E.
Laye, Sophie
TI Dietary supplementation of omega-3 fatty acids rescues fragile X
phenotypes in Fmr1-Ko mice
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Article
DE Dietary enrichment; Fragile X; Gene-environment interactions; Autism;
Cytokines; Neurotrophins
ID POLYUNSATURATED FATTY-ACIDS; MENTAL-RETARDATION PROTEIN; OMEGA-3;
AUTISM; BRAIN; HIPPOCAMPUS; PREMUTATION; CHILDREN; MOUSE; MODEL
AB Omega-3 polyunsaturated fatty acids (n-3 PUFAs) are known to critically influence brain development and functions. Dietary supplementation with n-3 PUFAs has been suggested as a non-pharmacological therapy for a number of developmental disorders, e.g., autistic spectrum disorders (ASD), but human studies so far have led to conflicting results. Furthermore, it has been hypothesized that the therapeutic impact of n-3 PUFAs on these disorders might be explained by their anti-inflammatory properties and their promoting effects on synaptic function and plasticity, but no clear evidence has been produced in this direction. We evaluated the impact of n-3 PUFA dietary supplementation in a mouse model of fragile X syndrome (FXS), i.e., a major developmental disease and the most frequent monogenic cause of ASD. Fmr1-KO and wild-type mice were provided with a diet enriched or not with n-3 PUFAs from weaning until adulthood when they were tested for multiple FXS-like behaviors. The brain expression of several cytokines and of brain-derived neurotrophic factor (BDNF) was concomitantly assessed as inflammatory and synaptic markers. n-3 PUFA supplementation rescued most of the behavioral abnormalities displayed by Fmr1-KO mice, including alterations in emotionality, social interaction and non-spatial memory, although not their deficits in social recognition and spatial memory. n-3 PUFAs also rescued most of the neuroinflammatory imbalances of KOs, but had a limited impact on their BDNF deficits. These results demonstrate that n-3 PUFAs dietary supplementation, although not a panacea, has a considerable therapeutic value for FXS and potentially for ASD, suggesting a major mediating role of neuroinflammatory mechanisms. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Pietropaolo, Susanna; Goubran, Mina G.; Lemaire-Mayo, Valerie; Crusio, Wim E.] CNRS, UMR 5287, Inst Neurosci Cognit & Integrat Aquitaine, F-33405 Talence, France.
[Pietropaolo, Susanna; Goubran, Mina G.; Joffre, Corinne; Aubert, Agnes; Lemaire-Mayo, Valerie; Crusio, Wim E.; Laye, Sophie] Univ Bordeaux, F-33405 Talence, France.
[Joffre, Corinne; Aubert, Agnes; Laye, Sophie] UMR INRA 1286, Lab NutriNeurO, F-33076 Bordeaux, France.
RP Pietropaolo, S (reprint author), CNRS, UMR 5287, Inst Neurosci Cognit & Integrat Aquitaine, Bat B2 Ave Fac, F-33405 Talence, France.
EM susanna.pietropaolo@u-bordeaux.fr
RI Crusio, Wim/A-7070-2008
OI Crusio, Wim/0000-0001-6638-202X
FU March of Dimes [12-FY05]; CNRS; University of Bordeaux; INRA; Region
Aquitaine
FX This work was supported by grants from the March of Dimes
(12-FY05-1198), CNRS, and the University of Bordeaux to W.E. Crusio, and
of the INRA and Region Aquitaine to S. Laye.
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NR 51
TC 2
Z9 2
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 NOV
PY 2014
VL 49
BP 119
EP 129
DI 10.1016/j.psyneuen.2014.07.002
PG 11
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AR1KA
UT WOS:000343342900014
PM 25080404
ER
PT J
AU Cardoso, C
Kingdon, D
Ellenbogen, MA
AF Cardoso, Christopher
Kingdon, Danielle
Ellenbogen, Mark A.
TI A meta-analytic review of the impact of intranasal oxytocin
administration on cortisol concentrations during laboratory tasks:
Moderation by method and mental health
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Article
DE Intranasal oxytocin; Cortisol; Mental health; Meta-analysis; Moderation;
Stress
ID RANDOMIZED CONTROLLED-TRIAL; PITUITARY-ADRENAL AXIS; TEND-AND-BEFRIEND;
BRAIN OXYTOCIN; ANXIETY DISORDERS; SOCIAL BEHAVIORS; RECEPTOR-BINDING;
PLASMA OXYTOCIN; STRESS-RESPONSE; DOSE-RESPONSE
AB Background: A large body of research has examined the acute effects of intranasal oxytocin administration on social cognition and stress-regulation. While progress has been made with respect to understanding the effect of oxytocin administration on social cognition in clinical populations (e.g. autism, schizophrenia), less is known about its impact on the functioning of the hypothalamic-pituitary-adrenal (HPA) axis among individuals with a mental disorder.
Method: We conducted a meta-analysis on the acute effect of intranasal oxytocin administration on the cortisol response to laboratory tasks. The search yielded eighteen studies employing a randomized, placebo-controlled design (k = 18, N = 675). Random-effects models and moderator analyses were performed using the metafor package for the statistical program R.
Results: The overall effect size estimate was modest and not statistically significant (Hedges G = -0.151, p = 0.11) with moderate heterogeneity in this effect across studies (I-2 = 31%). Controlling for baseline differences in cortisol concentrations, moderation analyses revealed that this effect was larger in response to challenging laboratory tasks that produced a robust stimulation of the HPA-axis (Hedges g = -0.433, 95% CI[-0.841, -0.025]), and in clinical populations relative to healthy controls (Hedges g = -0.742, 95% CI[-1.405, -0.078]).
Conclusion: Overall, oxytocin administration showed greater attenuation of the cortisol response to laboratory tasks that strongly activated the HPA-axis, relative to tasks that did not. The effect was more robust among clinical populations, suggesting possible increased sensitivity to oxytocin among those with a clinical diagnosis and concomitant social difficulties. These data support the view that oxytocin may play an important role in HPA dysfunction associated with psychopathology. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Cardoso, Christopher; Kingdon, Danielle; Ellenbogen, Mark A.] Concordia Univ, Dept Psychol, Ctr Res Human Dev, Montreal, PQ H4B 1R6, Canada.
RP Cardoso, C (reprint author), Concordia Univ, Dept Psychol, Ctr Res Human Dev, Montreal, PQ H4B 1R6, Canada.
EM christophercardoso@gmail.com
FU Canada Research Chair program (Social Sciences and Humanities Research
Council of Canada; SSHRC) [950-213802]; Canadian Institutes of Health
Research (CIHR) [12678]; Fonds de recherche du Quebec-Sante (FRQS);
SSHRC
FX This research was supported by grants to Dr. Ellenbogen from the Canada
Research Chair program (supported by the Social Sciences and Humanities
Research Council of Canada; SSHRC; 950-213802) and the Canadian
Institutes of Health Research (CIHR; 12678). Christopher Cardoso is
supported by a scholarship from the Fonds de recherche du Quebec-Sante
(FRQS). Danielle Kingdon is supported by a scholarship from SSHRC.
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NR 64
TC 0
Z9 0
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 NOV
PY 2014
VL 49
BP 161
EP 170
DI 10.1016/j.psyneuen.2014.07.014
PG 10
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AR1KA
UT WOS:000343342900018
PM 25086828
ER
PT J
AU Taylor, JL
Corbett, BA
AF Taylor, Julie Lounds
Corbett, Blythe A.
TI A review of rhythm and responsiveness of cortisol in individuals with
autism spectrum disorders
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Review
DE Autism spectrum disorder; HPA axis; Hormones; Cortisol; Diurnal;
Circadian; Rhythm; Responsiveness; Variability; Social
ID DEXAMETHASONE SUPPRESSION TEST; COMPLEX DEVELOPMENTAL DISORDER; PLASMA
BETA-ENDORPHIN; SALIVARY CORTISOL; PSYCHOSOCIAL STRESS; MAJOR
DEPRESSION; DIURNAL CORTISOL; SOCIAL STRESS; YOUNG-ADULTS; AWAKENING
RESPONSE
AB Examination of the hypothalamic-pituitary-adrenal (HPA) axis via cortisol among individuals with autism spectrum disorder (ASD) has been a growing area of research interest. The following review includes investigations of cortisol conducted with cohorts of individuals with ASD across the lifespan over the past four decades. In general, studies find dysregulation when examining the diurnal rhythm as a whole in lower functioning children with ASD; however, limited evidence exists for alterations in higher functioning individuals and in specific aspects of the diurnal cycle (cortisol awakening response, daily decline, variability) relative to typically developing individuals. Studies examining the responsiveness of cortisol in ASD suggest an overall sluggishness of the HPA axis in responding to physiological or physical manipulation. Hypo-responsiveness was observed in stressors that involve social evaluative threat, however, hyper-responsiveness of the HPA axis was observed in situations involving unpleasant stimuli or relatively benign social situations. A number of important considerations when conducting studies of cortisol in ASD cohorts are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Taylor, Julie Lounds] Vanderbilt Univ, Dept Pediat, Nashville, TN USA.
[Corbett, Blythe A.] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37235 USA.
[Corbett, Blythe A.] Vanderbilt Univ, Dept Psychol, Nashville, TN 37240 USA.
[Taylor, Julie Lounds; Corbett, Blythe A.] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Nashville, TN 37235 USA.
RP Corbett, BA (reprint author), Vanderbilt Kennedy Ctr, PMB 40,230 Appleton Pl, Nashville, TN 37203 USA.
EM Blythe.corbett@vanderbilt.edu
FU National Institutes of Health [R01 MH085717, KO1 MH92598]
FX This work was supported in part by the National Institutes of Health
(R01 MH085717, B.A. Corbett, PI; KO1 MH92598, J.L. Taylor, PI). 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 Institute of Health. The NIHM had no
further role in study design, in the collection, analysis and
interpretation of the data; in the writing of the report; and in the
decision to submit the paper for publication.
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NR 94
TC 2
Z9 2
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 NOV
PY 2014
VL 49
BP 207
EP 228
DI 10.1016/j.psyneuen.2014.07.015
PG 22
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AR1KA
UT WOS:000343342900022
PM 25108163
ER
PT J
AU Szarkowski, A
Mood, D
Shield, A
Wiley, S
Yoshinaga-Itano, C
AF Szarkowski, Amy
Mood, Deborah
Shield, Aaron
Wiley, Susan
Yoshinaga-Itano, Christine
TI A Summary of Current Understanding Regarding Children with Autism
Spectrum Disorder Who Are Deaf or Hard of Hearing
SO SEMINARS IN SPEECH AND LANGUAGE
LA English
DT Article
DE Deaf; hard of hearing; autism spectrum disorder; assessment
ID COCHLEAR IMPLANTS; LANGUAGE; TODDLERS; FACE
AB This article provides a consensus perspective based on the authors' expertise and the limited available literature regarding our understanding of children with an autism spectrum disorder (ASD) who are deaf or hard of hearing (D/HH). The challenges in the accurate identification of an ASD in children who are D/HH, including red flags for a potential ASD and screening and assessment for ASD, are described in this article. Additionally, strategies to guide professionals in their communication about a possible ASD with families and to frame the need for expanding aspects of communication important for this group of children are suggested.
C1 [Szarkowski, Amy] Boston Childrens Hosp Waltham, Deaf & Hard Hearing Program, Waltham, MA 02453 USA.
[Mood, Deborah] Childrens Hosp Colorado, Child Dev Unit, Aurora, CO USA.
[Shield, Aaron] Boston Univ, Dept Psychol, Boston, MA 02215 USA.
[Szarkowski, Amy] Harvard Univ, Sch Med, Dept Psychiat, Boston, MA 02115 USA.
[Wiley, Susan] Cincinnati Childrens Hosp Med Ctr, Div Dev & Behav Pediat, Cincinnati, OH 45229 USA.
[Yoshinaga-Itano, Christine] Univ Colorado, Dept Speech Language & Hearing Sci, Boulder, CO 80309 USA.
RP Szarkowski, A (reprint author), Boston Childrens Hosp Waltham, Deaf & Hard Hearing Program, 2nd Floor,West Wing,9 Hope Ave, Waltham, MA 02453 USA.
EM Amy.Szarkowski@childrens.harvard.edu
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NR 54
TC 0
Z9 0
PU THIEME MEDICAL PUBL INC
PI NEW YORK
PA 333 SEVENTH AVE, NEW YORK, NY 10001 USA
SN 0734-0478
EI 1098-9056
J9 SEMIN SPEECH LANG
JI Semin. Speech Lang.
PD NOV
PY 2014
VL 35
IS 4
BP 241
EP 259
DI 10.1055/s-0034-1389097
PG 19
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AR1WO
UT WOS:000343375500001
PM 25321849
ER
PT J
AU Wiley, S
Innis, H
AF Wiley, Susan
Innis, Heather
TI Supporting Families of Children Who Are Deaf or Hard of Hearing with an
Autism Spectrum Disorder
SO SEMINARS IN SPEECH AND LANGUAGE
LA English
DT Article
DE Family support; autism spectrum disorder; deaf/hard of hearing
ID EARLY INTERVENTION
AB Families of children who are deaf or hard of hearing (Deaf/HH) with an autism spectrum disorder (ASD) experience many frustrations and challenges in the identification of ASD, accessing supports and services to address all of their child's needs, and identifying networking and support opportunities with other families with children with similar needs. Professionals working with families are in a unique position to help navigate the often disconnected systems of services for children who are Deaf/HH and services for children with ASD. This article poses some possible strategies that professionals can implement in practice when working with children who are Deaf/HH with an ASD.
C1 [Wiley, Susan; Innis, Heather] Cincinnati Childrens Hosp Med Ctr, Div Dev & Behav Pediat, Cincinnati, OH 45229 USA.
RP Wiley, S (reprint author), Cincinnati Childrens Hosp Med Ctr, Div Dev & Behav Pediat, 3333 Burnet Ave ML 4002, Cincinnati, OH 45229 USA.
EM susan.wiley@cchmc.org
CR Beals K, 2004, INFANT YOUNG CHILD, V17, P284
Centers for Disease Control and Prevention (CDC), 2003, MMWR-MORBID MORTAL W, V52, P981
Muse C, 2013, PEDIATRICS, V131, pE1324, DOI 10.1542/peds.2013-0008
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Wiley S, 2014, J DEAF STUD DEAF EDU, V19, P40, DOI 10.1093/deafed/ent044
NR 8
TC 1
Z9 1
PU THIEME MEDICAL PUBL INC
PI NEW YORK
PA 333 SEVENTH AVE, NEW YORK, NY 10001 USA
SN 0734-0478
EI 1098-9056
J9 SEMIN SPEECH LANG
JI Semin. Speech Lang.
PD NOV
PY 2014
VL 35
IS 4
BP 260
EP 265
DI 10.1055/s-0034-1389098
PG 6
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AR1WO
UT WOS:000343375500002
PM 25321850
ER
PT J
AU Carr, J
Xu, DX
Yoshinaga-Itano, C
AF Carr, Jason
Xu, Dongxin
Yoshinaga-Itano, Christine
TI Language ENvironment Analysis Language and Autism Screen and the Child
Development Inventory Social Subscale as a Possible Autism Screen for
Children Who Are Deaf or Hard of Hearing
SO SEMINARS IN SPEECH AND LANGUAGE
LA English
DT Article
DE Deaf or hard of hearing; autism; screen; early childhood
ID SPECTRUM DISORDERS; YOUNG-CHILDREN; MODIFIED CHECKLIST; FOLLOW-UP;
TODDLERS; IMPAIRMENT; DIAGNOSIS; RISK
AB The Language ENvironment Analysis Language and Autism Screen (LLAS) is an automated vocal production analysis that has been shown to be a valid screener for autism in hearing children between the ages of 24 to 48 months of age. Although there is reportedly a higher incidence of autism among children who are deaf or hard of hearing, the diagnosis of autism is usually later than that in children with hearing. None of the traditional screening instruments have been used with children with hearing loss. Data about the utility of LLAS with children who are deaf or hard of hearing will be presented and discussed. Though more data will be needed, an LLAS at-risk flag in conjunction with the Social Quotient from the Child Development Inventory holds significant promise for a screen for children who are deaf or hard of hearing.
C1 [Xu, Dongxin] LENA Fdn, Boulder, CO USA.
[Carr, Jason; Yoshinaga-Itano, Christine] Univ Colorado, Dept Speech Language & Hearing Sci, Boulder, CO 80309 USA.
RP Carr, J (reprint author), Univ Colorado, Dept Speech, Campus Box 409, Boulder, CO 80309 USA.
EM Jason.P.Carr@Co-lorado.EDU
FU Disability Research and Dissemination Center (DRDC) [5U01DD001007];
Association of University Centers on Disabilities; Centers for Disease
Control (CDC) and Prevention
FX This research was supported by the Disability Research and Dissemination
Center (DRDC) through its Cooperative Agreement Number 5U01DD001007,
from the Association of University Centers on Disabilities, and from the
Centers for Disease Control (CDC) and Prevention.
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NR 27
TC 2
Z9 2
PU THIEME MEDICAL PUBL INC
PI NEW YORK
PA 333 SEVENTH AVE, NEW YORK, NY 10001 USA
SN 0734-0478
EI 1098-9056
J9 SEMIN SPEECH LANG
JI Semin. Speech Lang.
PD NOV
PY 2014
VL 35
IS 4
BP 266
EP 275
DI 10.1055/s-0034-1389099
PG 10
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AR1WO
UT WOS:000343375500003
PM 25321851
ER
PT J
AU Kellogg, EC
Thrasher, A
Yoshinaga-Itano, C
AF Kellogg, Elizabeth Cameron
Thrasher, Amy
Yoshinaga-Itano, Christine
TI Early Predictors of Autism in Young Children Who Are Deaf or Hard of
Hearing: Three Longitudinal Case Studies
SO SEMINARS IN SPEECH AND LANGUAGE
LA English
DT Article
DE Autism; deaf; hard of hearing; children; developmental assessment;
screening
ID SPECTRUM DISORDERS; COMMUNICATIVE DEVELOPMENT; LANGUAGE-DEVELOPMENT;
DIAGNOSIS; BEHAVIOR; SKILLS
AB Early assessment data (starting at 9 months) for three children who were deaf or hard. of hearing and later diagnosed with autism spectrum disorder (ASD) were analyzed. The results from the MacArthur-Bates Communicative Development Inventories (CDI) Words and Gestures and the Child Development Inventory were used to develop three profiles of children who were deaf or hard of hearing and had ASD. One child lacked expected skills and language at ages 9 and 14 months. Another child lost skills and language after 17 months. The third child had results usually within or above the average range until 3 years of age. However, his age quotient decreased for MacArthur-Bates CDI: Words and Gestures Words Expressed and the Child Development Inventory: Social to significantly below the normal range. Although it can be difficult to diagnose the co-occurrence of ASD and deafness, there were early warning signs for these children.
C1 [Kellogg, Elizabeth Cameron; Thrasher, Amy; Yoshinaga-Itano, Christine] Univ Colorado, Dept Speech Language & Hearing Sci, Boulder, CO 80309 USA.
RP Kellogg, EC (reprint author), Univ Colorado, Dept Speech Language & Hearing Sci, 2501 Kittredge Loop Rd,409 UCB, Boulder, CO 80309 USA.
EM elizabeth.kellogg@colorado.edu
FU Disability Research and Dissemination Center (DRDC) [5U01DD001007];
Association of University Centers on Disabilities; Centers for Disease
Control (CDC) and Prevention
FX This research was supported by the Disability Research and Dissemination
Center (DRDC) through its Cooperative Agreement Number 5U01DD001007,
from the Association of University Centers on Disabilities, and from the
Centers for Disease Control (CDC) and Prevention.
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NR 26
TC 3
Z9 3
PU THIEME MEDICAL PUBL INC
PI NEW YORK
PA 333 SEVENTH AVE, NEW YORK, NY 10001 USA
SN 0734-0478
EI 1098-9056
J9 SEMIN SPEECH LANG
JI Semin. Speech Lang.
PD NOV
PY 2014
VL 35
IS 4
BP 276
EP 287
DI 10.1055/s-0034-1389100
PG 12
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AR1WO
UT WOS:000343375500004
PM 25321852
ER
PT J
AU Mood, D
Shield, A
AF Mood, Deborah
Shield, Aaron
TI Clinical Use of the Autism Diagnostic Observation Schedule-Second
Edition with Children Who Are Deaf
SO SEMINARS IN SPEECH AND LANGUAGE
LA English
DT Article
DE Autism; deaf; ADOS-2; assessment
ID SPECTRUM DISORDERS; HEARING-LOSS
AB The Autism Diagnostic Observation Schedule Second Edition (ADOS-2) was administered to eight children who are deaf and who are native American Sign Language (ASL) users with previous autism spectrum disorder (ASD) diagnosis. Classification on two different module selection criteria was compared based on: (1) standardized administration rules (signs not counted as equivalent to words) and (2) commonly utilized clinical administration (sign language complexity treated equivalently to spoken language complexity). Differential module selection resulted in discrepant classification in five of the eight cases (63%) and suggests that ADOS-2 via standardized test administration may result in a failure to identify autism among children who are deaf with primary communication in ASL. Two of the eight children (25%) did not exceed the cutoff for an ASD classification on either module administered despite previous ASD diagnosis. Overall results suggest that caution should be used when utilizing the ADOS-2 with children who are deaf who primarily communicate using ASL.
C1 [Mood, Deborah] Childrens Hosp Colorado, Child Dev Unit, Aurora, CO 80045 USA.
[Shield, Aaron] Boston Univ, Dept Psychol, Boston, MA 02215 USA.
RP Mood, D (reprint author), Childrens Hosp Colorado, Child Dev Unit, 13123 E 16th Ave,Box 140, Aurora, CO 80045 USA.
EM Deborah.Mood@childrenscolorado.org
FU National Institute on Deafness and other Communication Disorders [1F32
DC0011219]
FX We would like to thank Dr. Terry Katz and Dr. Susan Hepburn for their
review of an earlier version of this article. Support for this research
was provided by a postdoctoral fellowship from the National Institute on
Deafness and other Communication Disorders to the second author (Grant
#1F32 DC0011219).
CR AERA (American Education Research Association) APA and The National Council on Measurement in Education, 1999, STAND ED PSYCH TEST
American Psychiatric Association, 2010, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Berument SK, 2005, J AUTISM DEV DISORD, V35, P821, DOI 10.1007/s10803-005-0027-4
Centers for Disease Control Prevention (CDC), 2014, MMWR RECOMM REP, V63, P1
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Liddell SK, 2003, GRAMMAR GESTURE MEAN
Lord C, 2012, AUTISM DIAGNOSTIC OB, V2
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Scott M, MCHB AUCD WEB FEBR 2
Shield A, 2012, J COMMUN DISORD, V45, P439, DOI 10.1016/j.jcomdis.2012.08.004
Shield A, 2014, SEMIN SPEECH LANG, V35, P241
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Szymanski C., 2008, ODYSSEY NEW DIRECTIO, V9, P10
Szymanski C, THESIS GALLAUDET U W
Szymanski CA, 2012, J AUTISM DEV DISORD, V42, P2027, DOI 10.1007/s10803-012-1452-9
Yoshinaga-Itano C, 1998, PEDIATRICS, V102, P1161, DOI 10.1542/peds.102.5.1161
NR 26
TC 3
Z9 3
PU THIEME MEDICAL PUBL INC
PI NEW YORK
PA 333 SEVENTH AVE, NEW YORK, NY 10001 USA
SN 0734-0478
EI 1098-9056
J9 SEMIN SPEECH LANG
JI Semin. Speech Lang.
PD NOV
PY 2014
VL 35
IS 4
BP 288
EP 300
DI 10.1055/s-0034-1389101
PG 13
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AR1WO
UT WOS:000343375500005
PM 25321853
ER
PT J
AU Szarkowski, A
Flynn, S
Clark, T
AF Szarkowski, Amy
Flynn, Suzanne
Clark, Terrell
TI Dually Diagnosed: A Retrospective Study of the Process of Diagnosing
Autism Spectrum Disorders in Children Who Are Deaf and Hard of Hearing
SO SEMINARS IN SPEECH AND LANGUAGE
LA English
DT Article
DE ASD; autism; deaf and hard of hearing; diagnosis; retrospective study
ID WILLIAMS-SYNDROME; YOUNG-CHILDREN
AB Utilizing a retrospective chart review of 30 children who have been dually diagnosed with hearing loss and autism spectrum disorders (ASDs), this study explores the process of arriving at the diagnosis of ASD in this population. Factors of interest include the age of ASD diagnosis in children who are deaf and hard of hearing, the types of professionals involved in making the diagnosis, and the measures used for assessment. Complications in the diagnostic process are highlighted.
C1 [Szarkowski, Amy; Clark, Terrell] Boston Childrens Hosp, Deaf & Hard Hearing Program, Boston, MA USA.
[Flynn, Suzanne] Boston Childrens Hosp, Autism Language Program, Boston, MA USA.
[Szarkowski, Amy; Clark, Terrell] Harvard Univ, Sch Med, Dept Psychiat, Boston, MA 02115 USA.
[Flynn, Suzanne] MIT, Dept Linguist, Cambridge, MA 02139 USA.
RP Szarkowski, A (reprint author), Boston Childrens Hosp Waltham, 2nd Floor,West Wing,9 Hope Ave, Waltham, MA 02453 USA.
EM Amy.Szarkowski@childrens.harvard.edu
CR American Psychiatric Association, 2013, DSM5 AM PSYCH ASS
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Mishaal RA, 2014, RES AUTISM SPECT DIS, V8, P873, DOI 10.1016/j.rasd.2014.04.001
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Rosenberg R. R., 2011, AUTISM RES TREAT, V2011, DOI DOI 10.1155/2011/874619
NR 17
TC 1
Z9 1
PU THIEME MEDICAL PUBL INC
PI NEW YORK
PA 333 SEVENTH AVE, NEW YORK, NY 10001 USA
SN 0734-0478
EI 1098-9056
J9 SEMIN SPEECH LANG
JI Semin. Speech Lang.
PD NOV
PY 2014
VL 35
IS 4
BP 301
EP 308
DI 10.1055/s-0034-1389102
PG 8
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AR1WO
UT WOS:000343375500006
PM 25321854
ER
PT J
AU Shield, A
AF Shield, Aaron
TI Preliminary Finaings of Similarities and Differences in the Signed and
Spoken Language of Children with Autism
SO SEMINARS IN SPEECH AND LANGUAGE
LA English
DT Article
DE Sign language; autism; language acquisition; echolalia; pronouns
ID VISUAL PERSPECTIVE-TAKING; HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS;
PERSONAL PRONOUNS; DEAF-CHILDREN; COMMUNICATION; GESTURE; RECOGNITION;
INFORMATION; EMOTIONS
AB Approximately 30% of hearing children with autism spectrum disorder (ASD) do not acquire expressive language, and those who do often show impairments related to their social deficits, using language instrumentally rather than socially, with a poor understanding of pragmatics and a tendency toward repetitive content. Linguistic abnormalities can be clinically useful as diagnostic markers of ASD and as targets for intervention. Studies have begun to document how ASD manifests in children who are deaf for whom signed languages are the primary means of communication. Though the underlying disorder is presumed to be the same in children who are deaf and children who hear, the structures of signed and spoken languages differ in key ways. This article describes similarities and differences between the signed and spoken language acquisition of children on the spectrum. Similarities include echolalia, pronoun avoidance, neologisms, and the existence of minimally verbal children. Possible areas of divergence include pronoun reversal, palm reversal, and facial grammar.
C1 Boston Univ, Dept Psychol, Boston, MA 02215 USA.
RP Shield, A (reprint author), Boston Univ, Dept Psychol, 64 Cummington Mall, Boston, MA 02215 USA.
EM ashield@bu.edu
FU National Institute on Deafness and Other Communication Disorders [1F32
DC0011219]; Autism Science Foundation
FX The author wishes to thank Lisa Wisman Well and Christine
Yoshinaga-Itano for comments on an earlier version of this article.
Support for this research was provided by the National Institute on
Deafness and Other Communication Disorders (Postdoctoral Fellowship 1F32
DC0011219) and the Autism Science Foundation.
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NR 69
TC 1
Z9 1
PU THIEME MEDICAL PUBL INC
PI NEW YORK
PA 333 SEVENTH AVE, NEW YORK, NY 10001 USA
SN 0734-0478
EI 1098-9056
J9 SEMIN SPEECH LANG
JI Semin. Speech Lang.
PD NOV
PY 2014
VL 35
IS 4
BP 309
EP 320
DI 10.1055/s-0034-1389103
PG 12
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AR1WO
UT WOS:000343375500007
PM 25321855
ER
PT J
AU Thompson, N
Yoshinaga-Itano, C
AF Thompson, Nanette
Yoshinaga-Itano, Christine
TI Enhancing the Development of Infants and Toddlers with Dual Diagnosis of
Autism Spectrum Disorder and Deafness
SO SEMINARS IN SPEECH AND LANGUAGE
LA English
DT Article
DE Autism; deaf; hard of hearing; early intervention; auditory; sign
language
ID HEARING-LOSS; CHILDREN; INTERVENTION; LANGUAGE; TEACCH
AB Children diagnosed with autism spectrum disorder (ASD) are often referred for audiological diagnostic evaluation. This article provides some strategies for preparing children for a successful diagnostic evaluation. Children who are deaf or hard of hearing with a dual diagnosis of ASD may have difficulty learning to demonstrate detection or imitation of the Ling 6 sounds. The Ling 6 sounds are used to determine what a child with a dual diagnosis can hear and discriminate with amplification (hearing aids or cochlear implants). Because children with ASD may not look at the conversational partner and may have difficulty with imitation, adaptive strategies may be necessary to teach these children with dual diagnosis their first words. Strategies for teaching children with dual diagnosis through sign language will also be discussed.
C1 [Thompson, Nanette] Univ Hosp, Denver, CO USA.
[Yoshinaga-Itano, Christine] Univ Colorado, Dept Speech Language & Hearing Sci, Boulder, CO 80309 USA.
RP Yoshinaga-Itano, C (reprint author), Univ Colorado, Dept Speech Language & Hearing Sci, Campus Box 409, Boulder, CO 80309 USA.
EM christie.yoshi@Colorado.EDU
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NR 34
TC 1
Z9 1
PU THIEME MEDICAL PUBL INC
PI NEW YORK
PA 333 SEVENTH AVE, NEW YORK, NY 10001 USA
SN 0734-0478
EI 1098-9056
J9 SEMIN SPEECH LANG
JI Semin. Speech Lang.
PD NOV
PY 2014
VL 35
IS 4
BP 321
EP 330
DI 10.1055/s-0034-1389104
PG 10
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AR1WO
UT WOS:000343375500008
PM 25321856
ER
PT J
AU Thrasher, A
AF Thrasher, Amy
TI Video Modeling for Children with Dual Diagnosis of Deafness or Hard of
Hearing and Autism Spectrum Disorder to Promote Peer Interaction
SO SEMINARS IN SPEECH AND LANGUAGE
LA English
DT Article
DE Autism; deaf; intervention; video modeling; peer interaction
ID JOINT ATTENTION; COMMUNICATION; LANGUAGE; SKILLS; PLAY
AB This article describes an intervention program offered at the University of Colorado Boulder that supports peer interaction among young children with autism spectrum disorders and their typical peers using a multicomponent approach, including video modeling. Characteristics of autism that may interfere with the development of peer interaction in young children will be discussed. Components of the approach will be described and the evidence base for the application of these components examined in regards to children with autism and for the potential application to children with the dual diagnosis of autism and deafness or hard of hearing.
C1 Univ Colorado, Dept Speech, Boulder, CO 80309 USA.
RP Thrasher, A (reprint author), Univ Colorado, Dept Speech, Campus Box 409, Boulder, CO 80309 USA.
EM Amy.Thrasher@colorado.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
American Speech-Language-Hearing Association, 2006, GUID SPEECH LANG PAT
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NR 32
TC 0
Z9 0
PU THIEME MEDICAL PUBL INC
PI NEW YORK
PA 333 SEVENTH AVE, NEW YORK, NY 10001 USA
SN 0734-0478
EI 1098-9056
J9 SEMIN SPEECH LANG
JI Semin. Speech Lang.
PD NOV
PY 2014
VL 35
IS 4
BP 331
EP 341
DI 10.1055/s-0034-1389105
PG 11
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AR1WO
UT WOS:000343375500009
PM 25321857
ER
PT J
AU Seol, KI
Song, SH
Kim, KL
Oh, ST
Kim, YT
Im, WY
Song, DH
Cheon, KA
AF Seol, Kyeong In
Song, Seung Ha
Kim, Ka Lim
Oh, Seung Taek
Kim, Young Tae
Im, Woo Young
Song, Dong Ho
Cheon, Keun-Ah
TI A Comparison of Receptive-Expressive Language Profiles between Toddlers
with Autism Spectrum Disorder and Developmental Language Delay
SO YONSEI MEDICAL JOURNAL
LA English
DT Article
DE Autism spectrum disorder; toddlers; receptive language; expressive
language
ID EARLY IDENTIFICATION; ASPERGER-SYNDROME; COMPLEX SOUNDS; VIDEO ANALYSIS;
HOME VIDEO; CHILDREN; INFANTS; LIFE; RECOGNITION; IMPAIRMENT
AB Purpose: It is well known that expressive language impairment is commonly less severe than receptive language impairment in children with autism spectrum disorder (ASD). However, this result is based on experiments in Western countries with Western language scales. This study tries to find whether the result above is applicable for toddlers in a non-Western country; more specifically, in Korea with nonWestern language scales. Materials and Methods: The participants were 166 toddlers aged between 20 months and 50 months who visited the clinic from December 2010 to January 2013. The number of toddlers diagnosed as ASD and developmental language delay (DLD) was 103 and 63, respectively. Language development level was assessed using Sequenced Language Scale for Infants (SELSI), a Korean language scale. Using SELSI, each group was divided into 3 sub-groups. Moreover, the group difference by age was observed by dividing them into three age groups. Chisquare test and linear-by-linear association was used for analysis. Results: Receptive language ability of the DLD group was superior to that of the ASD group in all age groups. However, expressive language ability in both groups showed no difference in all age groups. A greater proportion of expressive dominant type was found in ASD. The 20-29 months group in ASD showed the largest proportion of expressive language dominant type in the three age groups, suggesting that the younger the ASD toddler is, the more severe the receptive language impairment is. Conclusion: These findings suggest that receptive-expressive language characteristics in ASD at earlier age could be useful in the early detection ofASD.
C1 [Seol, Kyeong In; Song, Seung Ha; Kim, Ka Lim; Oh, Seung Taek; Song, Dong Ho; Cheon, Keun-Ah] Yonsei Univ, Div Child & Adolescent Psychiat, Dept Psychiat, Coll Med, Seoul 120752, South Korea.
[Seol, Kyeong In; Song, Seung Ha; Kim, Ka Lim; Oh, Seung Taek; Song, Dong Ho; Cheon, Keun-Ah] Yonsei Univ, Inst Behav Sci Med, Coll Med, Seoul 120752, South Korea.
[Kim, Young Tae] Ewha Womans Univ, Dept Commun Disorder, Seoul, South Korea.
[Im, Woo Young] Konyang Univ, Div Child & Adolescent Psychiat, Dept Psychiat, Coll Med, Taejon, South Korea.
RP Cheon, KA (reprint author), Yonsei Univ, Div Child & Adolescent Psychiat, Dept Psychiat, Severance Hosp,Coll Med, 50-1 Yonsei Ro, Seoul 120752, South Korea.
EM kacheon@yuhs.ac
FU Ministry of Health & Welfare, Republic of Korea [HI12C0021,
HI12C0245-A120029]; Yonsei University College of Medicine [6-2010-0139]
FX This work was supported by a grant of the Korean Health Technology R&D
Project, Ministry of Health & Welfare, Republic of Korea (HI12C0021,
HI12C0245-A120029).This study was supported by a faculty research grant
of Yonsei University College of Medicine for 2010 (6-2010-0139).
CR Amaral D., 2011, AUTISM SPECTRUM DISO
[Anonymous], 2013, DIAGN STAT MAN MENT
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Zwaigenbaum L, 2005, INT J DEV NEUROSCI, V23, P143, DOI 10.1016/j.ijdevneu.2004.05.001
NR 32
TC 1
Z9 1
PU YONSEI UNIV COLL MEDICINE
PI SEOUL
PA 50-1 YONSEI-RO, SEODAEMUN-GU, SEOUL 120-752, SOUTH KOREA
SN 0513-5796
EI 1976-2437
J9 YONSEI MED J
JI Yonsei Med. J.
PD NOV 1
PY 2014
VL 55
IS 6
BP 1721
EP 1728
DI 10.3349/ymj.2014.55.6.1721
PG 8
WC Medicine, General & Internal
SC General & Internal Medicine
GA AR7UL
UT WOS:000343785100033
PM 25323912
ER
PT J
AU Moore, P
AF Moore, Phil
TI Autism and Other Neurodevelopmental Disorders
SO CHILD AND ADOLESCENT MENTAL HEALTH
LA English
DT Book Review
C1 [Moore, Phil] NAS Broomhayes, North Devon, England.
RP Moore, P (reprint author), NAS Broomhayes, North Devon, England.
CR HANSEN RL, 2013, AUTISM OTHER NEURODE
NR 1
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1475-357X
EI 1475-3588
J9 CHILD ADOL MENT H-UK
JI Child Adolesc. Ment. Health
PD NOV
PY 2014
VL 19
IS 4
BP 274
EP 274
PG 1
WC Psychology, Clinical; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AQ8FG
UT WOS:000343059100009
ER
PT J
AU von Ehrenstein, OS
Aralis, H
Cockburn, M
Ritz, B
AF von Ehrenstein, Ondine S.
Aralis, Hilary
Cockburn, Myles
Ritz, Beate
TI In Utero Exposure to Toxic Air Pollutants and Risk of Childhood Autism
SO EPIDEMIOLOGY
LA English
DT Article
ID SPECTRUM DISORDERS; LOS-ANGELES; ENVIRONMENTAL-FACTORS; TOLUENE
EXPOSURE; PRETERM BIRTH; POLLUTION; CALIFORNIA; CHILDREN; POPULATION;
AGE
AB Background: Genetic and environmental factors are believed to contribute to the development of autism, but relatively few studies have considered potential environmental risks. Here, we examine risks for autism in children related to in utero exposure to monitored ambient air toxics from urban emissions.
Methods: Among the cohort of children born in Los Angeles County, California, 1995-2006, those whose mothers resided during pregnancy in a 5-km buffer around air toxics monitoring stations were included (n = 148,722). To identify autism cases in this cohort, birth records were linked to records of children diagnosed with primary autistic disorder at the California Department of Developmental Services between 1998 and 2009 (n = 768). We calculated monthly average exposures during pregnancy for 24 air toxics selected based on suspected or known neurotoxicity or neurodevelopmental toxicity. Factor analysis helped us identify the correlational structure among air toxics, and we estimated odds ratios (ORs) for autism from logistic regression analyses.
Results: Autism risks were increased per interquartile range increase in average concentrations during pregnancy of several correlated toxics mostly loading on 1 factor, including 1,3-butadiene (OR = 1.59 [95% confidence interval = 1.18-2.15]), meta/para-xylene (1.51 [1.26-1.82]), other aromatic solvents, lead (1.49 [1.23-1.81]), perchloroethylene (1.40 [1.09-1.80]), and formaldehyde (1.34 [1.17-1.52]), adjusting for maternal age, race/ethnicity, nativity, education, insurance type, parity, child sex, and birth year.
Conclusions: Risks for autism in children may increase following in utero exposure to ambient air toxics from urban traffic and industry emissions, as measured by community-based air-monitoring stations.
C1 [von Ehrenstein, Ondine S.] Univ Calif Los Angeles, Dept Community Hlth Sci, Fielding Sch Publ Hlth, Los Angeles, CA 90095 USA.
[Aralis, Hilary] Univ Calif Los Angeles, Dept Biostat, Fielding Sch Publ Hlth, Los Angeles, CA 90095 USA.
[Cockburn, Myles] Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA.
[Ritz, Beate] Univ Calif Los Angeles, Fielding Sch Publ Hlth, Dept Epidemiol, Los Angeles, CA 90095 USA.
RP von Ehrenstein, OS (reprint author), Univ Calif Los Angeles, POB 951772, Los Angeles, CA 90095 USA.
EM ovehren@ucla.edu
RI Ritz, Beate/E-3043-2015
FU National Institute of Environmental Health Sciences [R21ES022389];
California Center for Population Research, UCLA; Eunice Kennedy Shriver
National Institute of Child Health and Human Development [R24HD041022]
FX Supported by the National Institute of Environmental Health Sciences
R21ES022389 and the California Center for Population Research, UCLA,
supported by infrastructure grant R24HD041022 from the Eunice Kennedy
Shriver National Institute of Child Health and Human Development.
CR American Psychiatric Association, 2000, AM PSYCH ASS DIAGN S, V4th
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von Ehrenstein OS, 2014, AM J PUBLIC HEALTH, V104, pS65, DOI 10.2105/AJPH.2013.301457
Wilhelm M, 2009, HEALTH PLACE, V15, P25, DOI 10.1016/j.healthplace.2008.02.002
Windham GC, 2006, ENVIRON HEALTH PERSP, V114, P1438, DOI 10.1289/ehp.9120
Win-Shwe TT, 2012, TOXICOL LETT, V208, P133, DOI 10.1016/j.toxlet.2011.10.015
NR 47
TC 2
Z9 2
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 1044-3983
EI 1531-5487
J9 EPIDEMIOLOGY
JI Epidemiology
PD NOV
PY 2014
VL 25
IS 6
BP 851
EP 858
DI 10.1097/EDE.0000000000000150
PG 8
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AQ8XJ
UT WOS:000343122000010
PM 25051312
ER
PT J
AU Gilley, C
Ringdahl, JE
AF Gilley, Caitlin
Ringdahl, Joel E.
TI The effects of item preference and token reinforcement on sharing
behavior exhibited by children with autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Social skills; Autism spectrum disorder; Children; Token economy; Item
preference; Sharing
ID PRESCHOOL-CHILDREN; ASSESSMENTS
AB The current studies evaluated variables affecting sharing exhibited by children with autism spectrum disorder. Study 1 evaluated the effects of manipulating item preference on the level of assistance needed to exhibit sharing behavior for 4 children with autism. Item preference clearly affected 2 participants' percentage of independent sharing. Preference did not have as clear of an effect for a third participant. However, sharing a high-preference item generally required a higher level of prompting (e.g., vocal prompts) to share. The fourth participant's percentage of independent sharing was not influenced by preference, and his independent sharing behavior was similar across item preference. Study 2 assessed the effectiveness of a token reinforcement procedure as an intervention designed to increase independent sharing of high-preference items for the two participants who did not independently share those items during Study 1. Independent sharing increased for both participants when the token procedure was in place and decreased when it was removed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Gilley, Caitlin; Ringdahl, Joel E.] So Illinois Univ, Inst Rehabil, Behav Anal & Therapy Program, Carbondale, IL 62901 USA.
RP Ringdahl, JE (reprint author), So Illinois Univ, Inst Rehabil, Carbondale, IL 62901 USA.
EM joelringdahl@siu.edu
CR American Psychiatric Association, 2013, DIAGNOSTIC AND STATI
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NR 20
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1425
EP 1433
DI 10.1016/j.rasd.2014.07.010
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100001
ER
PT J
AU Bodner, KE
Williams, DL
Engelhardt, CR
Minshew, NJ
AF Bodner, Kimberly E.
Williams, Diane L.
Engelhardt, Christopher R.
Minshew, Nancy J.
TI A comparison of measures for assessing the level and nature of
intelligence in verbal children and adults with autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; High-functioning; Intelligence; Wechsler;
Raven's Progressive Matrices; Cognition
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS;
SEX-DIFFERENCES; CONFIDENCE-INTERVALS; EFFECT SIZES; INDIVIDUALS; IQ;
DIAGNOSIS; PROFILE
AB Previous work has suggested that the Raven's Progressive Matrices (RPM) are better suited for capturing the nature of intelligence for individuals with autism spectrum disorder (ASD) than the Wechsler scales. The RPM measures 'fluid intelligence', an area for which it has been argued that persons with ASD have a relative strength. Given that measures of intelligence are used for establishing clinical diagnoses, for making educational decisions, and for group-matching in research studies, continued examination of this contention is warranted. In the current study, verbal children with ASD performed moderately better on the RPM than on the Wechsler scales; children without ASD received higher percentile scores on the Wechsler than on the RPM. Adults with and without ASD received higher percentile scores on the Wechsler than the RPM. Results suggest that the RPM and Wechsler scales measure different aspects of cognitive abilities in verbal individuals with ASD. For the verbal children and adults with ASD in the current study, the RPM and Wechsler scales have unique contributions that must be considered in-context when establishing a baseline of cognitive function. The results of this investigation highlight the importance of thoughtfully selecting appropriate measures of intelligence consistent with clinical, educational, and research purposes, especially for verbal children and adults with ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Bodner, Kimberly E.; Williams, Diane L.; Minshew, Nancy J.] Univ Pittsburgh, Sch Med, NIH Autism Ctr Excellence, Pittsburgh, PA 15213 USA.
[Williams, Diane L.] Duquesne Univ, Rangos Sch Hlth Sci, Pittsburgh, PA 15282 USA.
[Engelhardt, Christopher R.] Univ Missouri, Thompson Ctr Autism & Neurodev Disorders, Dept Hlth Psychol, Columbia, MO 65211 USA.
[Minshew, Nancy J.] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA 15213 USA.
[Minshew, Nancy J.] Univ Pittsburgh, Sch Med, Dept Neurol, Pittsburgh, PA 15213 USA.
RP Bodner, KE (reprint author), Univ Missouri, Dept Psychol Sci, 3 McAlester Hall, Columbia, MO 65211 USA.
EM kimberly.bodner@mail.mizzou.edu; williamsd2139@duq.edu;
engelhardtc@health.missouri.edu; minshewnj@upmc.edu
CR Algina J, 2003, EDUC PSYCHOL MEAS, V63, P537, DOI 10.1177/0013164403256358
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Williams DL, 2008, RES AUTISM SPECT DIS, V2, P353, DOI 10.1016/j.rasd.2007.08.005
NR 40
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1434
EP 1442
DI 10.1016/j.rasd.2014.07.015
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100002
ER
PT J
AU Shillingsburg, MA
Bowen, CN
Shapiro, SK
AF Shillingsburg, M. Alice
Bowen, Crystal N.
Shapiro, Steven K.
TI Increasing social approach and decreasing social avoidance in children
with autism spectrum disorder during discrete trial training
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Social approach; Social avoidance; Discrete trial training; Autism;
Pairing; Reflexive establishing operations
ID DIFFERENTIAL REINFORCEMENT; ESTABLISHING OPERATIONS; BEHAVIORAL
TREATMENT; INTERVENTION; PREVENTION; STIMULI
AB Instructions presented during discrete trial training (DTT) may evoke problem behavior and exacerbate social avoidance in children with autism spectrum disorder (ASD). Given the importance of DTT in comprehensive interventions, evaluating procedures to increase social responsiveness and approach during DTT are warranted. The effect of antecedent strategies on social avoidance during DTT in two children with ASD was examined. A pairing procedure in which one therapist removed demands and paired social interaction with access to preferred toys and activities was compared to a demand procedure in which a therapist presented instructions. Social approach was higher and social avoidance was lower in sessions with the pairing therapist compared to the non-pairing therapist during the Pairing Intervention and during post-pairing demand sessions. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Shillingsburg, M. Alice; Bowen, Crystal N.] Marcus Autism Ctr, Atlanta, GA USA.
[Shillingsburg, M. Alice] Emory Univ, Sch Med, Dept Pediat, Atlanta, GA 30322 USA.
[Shapiro, Steven K.] Auburn Univ, Dept Psychol, Auburn, AL 36849 USA.
RP Shillingsburg, MA (reprint author), 1920 Briarcliff Rd, Atlanta, GA 30329 USA.
EM alice.shillingsburg@choa.org
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NR 37
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1443
EP 1453
DI 10.1016/j.rasd.2014.07.013
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100003
ER
PT J
AU Tsai, LKY
AF Tsai, Luke Y.
TI Impact of DSM-5 on epidemiology of Autism Spectrum Disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Review
DE Autism Spectrum Disorder; Autistic Disorder; Pervasive developmental
disorder; DSM-5; Epidemiology; Prevalence
ID PERVASIVE DEVELOPMENTAL DISORDERS; US METROPOLITAN-AREA;
INFANTILE-AUTISM; CHILDHOOD AUTISM; DIAGNOSTIC-CRITERIA; TOTAL
POPULATION; BIRTH COHORTS; IV-TR; CHANGING PREVALENCE;
PRESCHOOL-CHILDREN
AB This paper extensively and comprehensively reviews the literature on epidemiology of autism focusing on the prevalence rates of Autistic Disorder (AD) and Autism Spectrum Disorder (ASD), and the potential negative impact of DSM-5 ASD on future ASD prevalence studies. Between 1966 and 2013, there are 72 published prevalence studies of AD and 61 published studies of ASD. The AD has a broad range of prevalence rates and has shown a trend of increasing rates over time. But there are also some evidences showing that the increase seems to have leveled off. The current prevalence of AD is estimated in the range of 10-30 per 10,000 people (i.e., 1 in 1000 to 1 in 333). The ASD also has a wide range of prevalence rates with a median rate of 69.5 per 10,000 people (I in 144). When the prevalence rates are subdivided into several sub-ranges (e.g., 10-20, 20-40, etc. per 10,000), it is difficult to pick a particular sub-range to represent the prevalence of ASD. The present review notes that several recent studies comparing the utility of DSM-IV/DSM-IV-TR ASD and the DSM-5 ASD have reported that about 9-54% of DSM-IV ASD cases do not qualify for the DSM-5 ASD. Suggestions of research designs for future ASD prevalence studies are offered. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Tsai, Luke Y.] Univ Michigan, Sch Med, Dept Psychiat & Pediat, Ann Arbor, MI USA.
RP Tsai, LKY (reprint author), 2385 Placid Way, Ann Arbor, MI 48105 USA.
EM lyctsai@umich.edu
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NR 145
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1454
EP 1470
DI 10.1016/j.rasd.2014.07.016
PG 17
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100004
ER
PT J
AU Park, JH
Kim, YS
Koh, YJ
Song, J
Leventhal, BL
AF Park, Ju Hee
Kim, Young-Shin
Koh, Yun-Joo
Song, Jungeun
Leventhal, Bennett L.
TI A contrast of comorbid condition and adaptive function between children
with Autism Spectrum Disorder from clinical and non-clinical populations
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism Spectrum Disorders; Comorbid condition; Adaptive function;
BASC-2-PRS
ID PERVASIVE DEVELOPMENTAL DISORDERS; PSYCHIATRIC-DISORDERS;
ASPERGER-SYNDROME; DIAGNOSIS; PREVALENCE; BEHAVIORS; INTERVIEW; ASD
AB To investigate factors that might hamper early identification of Autism Spectrum Disorder (ASD), the present study examined differences between comorbid conditions and adaptive functions measured by the BASC-2 PRS in an epidemiologically ascertained group of children with ASD (Clinical and Non-clinical ASD groups), those who were screened positive but confirmed not to have ASD (No-ASD), and a group of typical, community children (N = 5222). Results indicate that the Clinical ASD group scored lower on the Externalizing Problems composite, Aggression, and Conduct Problems scales than did the No-ASD group whereas the Non-clinical ASD group did not differ from the other two groups except on the Conduct Problem scale. Further, the Clinical ASD group significantly scored lower than the other two groups the Adaptive Skills composite. The scores of the Clinical ASD group on the Social Skills and Leadership scales were lower than those in the No-ASD group, but not those in the Nonclinical ASD group. Results suggest that the frequent comorbid behavioral problems and higher adaptive skills of children in a non-clinical population, compared to a clinical population could mask their core ASD symptoms, resulting in a delay for caretakers to seek appropriate services for these children. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Park, Ju Hee] Yonsei Univ, Dept Child & Family Studies, Seoul 120749, South Korea.
[Kim, Young-Shin; Leventhal, Bennett L.] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA 94143 USA.
[Kim, Young-Shin; Leventhal, Bennett L.] Nathan S Kline Inst Psychiat Res, Orangeburg, NY 10962 USA.
[Kim, Young-Shin; Leventhal, Bennett L.] Yonsei Univ, Dept Psychiat, Seoul 120749, South Korea.
[Koh, Yun-Joo] Korea Inst Childrens Social Dev, Rudolph Child Res Ctr, Seoul 122824, South Korea.
[Song, Jungeun] Natl Hlth Insurance Serv Ilsan Hosp, Dept Psychiat, Goyangsi 410719, Gyeonggi Do, South Korea.
RP Kim, YS (reprint author), Univ Calif San Francisco, Dept Psychiat, 401 Parnassus Ave,Box 0984, San Francisco, CA 94143 USA.
EM youngshin.kim@ucsf.edu
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Shin M. S., 2009, STANDARDIZATION OF K
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Yim G., 2012, THESIS
NR 44
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1471
EP 1481
DI 10.1016/j.rasd.2014.07.014
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100005
ER
PT J
AU Brown, HM
Johnson, AM
Smyth, RE
Cardy, JO
AF Brown, Heather M.
Johnson, Andrew M.
Smyth, Rachael E.
Cardy, Janis Oram
TI Exploring the persuasive writing skills of students with
high-functioning autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Written expression; Persuasive writing; Oral
language; Weak central coherence; Theory of mind
ID LANGUAGE-LEARNING DISABILITIES; REGULATED STRATEGY-DEVELOPMENT;
ASPERGER-SYNDROME; PLANNING INSTRUCTION; EXPOSITORY DISCOURSE; STORY
CHARACTERS; CHILDREN; ADULTS; IMPAIRMENT; ADOLESCENTS
AB Previous studies of students with high-functioning autism spectrum disorder (HFASD) have shown great variability in their writing abilities. Most previous studies of students with HFASD have combined individuals with linguistic impairments (HF-ALI) and individuals without linguistic impairments (HF-ALN) into a single group. The current study was the first to compare the persuasive writing of students with HF-ALN with controls, without confounding the effects of language ability and autism on writing achievement, and while considering possible cognitive underpinnings of their writing skills. Twenty-five students with HF-ALN and 22 typically developing controls completed measures of oral language, nonverbal IQ social responsiveness, theory of mind, integrative processing and persuasive writing. The persuasive texts were coded on 19 variables across six categories: productivity, grammatical complexity, lexical diversity, cohesiveness, writing conventions, and overall quality. The texts were reliably different between groups across measures of productivity, syntactic complexity, lexical complexity and persuasive quality. Specifically, the texts of students with HF-ALN scored lower on overall quality (d = -0.6 SD), contained shorter and simpler sentences (d = -1.0), and had less repetition of content words (d = -0.8 SD). For the HF-ALN group, integrative processing, language ability and age predicted 77% of the variance in persuasive quality. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Brown, Heather M.; Smyth, Rachael E.] Univ Western Ontario, Elborn Coll, Grad Program Hlth & Rehabil Sci, London, ON N6G 1H1, Canada.
[Johnson, Andrew M.] Univ Western Ontario, Elborn Coll, Sch Hlth Studies, London, ON N6G 1H1, Canada.
[Cardy, Janis Oram] Univ Western Ontario, Elborn Coll, Sch Commun Sci & Disorders, London, ON N6G 1H1, Canada.
RP Brown, HM (reprint author), Univ Western Ontario, Dept Psychol, Westminster Hall, London, ON N6A 3K7, Canada.
EM heather.brown@alumni.uwo.ca
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NR 81
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1482
EP 1499
DI 10.1016/j.rasd.2014.07.017
PG 18
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100006
ER
PT J
AU Williams, LW
Matson, JL
Goldin, RL
Adams, HL
AF Williams, Lindsey W.
Matson, Johnny L.
Goldin, Rachel L.
Adams, Hilary L.
TI Children assessed for Autism Spectrum Disorder: Developmental delay and
change over time in BDI-2 developmental quotients
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism Spectrum Disorder; Developmental change; Developmental quotient;
BDI-2
ID INTENSIVE BEHAVIORAL INTERVENTION; PROSPECTIVE FOLLOW-UP;
YOUNG-CHILDREN; PREDICTIVE-VALIDITY; DIAGNOSTIC-CRITERIA;
MENTAL-RETARDATION; SCHOOL-AGE; PDD-NOS; DSM-IV; TODDLERS
AB Individuals with Autism Spectrum Disorder (ASD) often have overall developmental delays and delays in developmental domains outside of the core ASD symptoms. Research results have been mixed regarding the stability of level of functioning over time in young children with ASD symptoms. Elements that influence development over time in young children with ASD symptoms are an important area of research. Early assessment and intervention is critical to improving prognosis, though effectiveness of intervention depends on a number of factors with some researchers suggesting IQ or overall functioning may influence the degree or rapidity of treatment effects. Using the Battelle Developmental Inventory, this study investigates the effect of overall developmental quotient (DQ) at first assessment on subsequent DQ scores, including scores in communication and adaptive domains in a sample of toddlers evincing significant ASD symptoms. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Williams, Lindsey W.; Matson, Johnny L.; Goldin, Rachel L.; Adams, Hilary L.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Williams, LW (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM lwil175@lsu.edu
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NR 70
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1500
EP 1507
DI 10.1016/j.rasd.2014.08.001
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100007
ER
PT J
AU Mazurek, MO
Keefer, A
Shui, A
Vasa, RA
AF Mazurek, Micah O.
Keefer, Amy
Shui, Amy
Vasa, Roma A.
TI One-year course and predictors of abdominal pain in children with autism
spectrum disorders: The role of anxiety and sensory over-responsivity
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Abdominal pain; Gastrointestinal problems; Anxiety; Sensory problems;
Autism; Autism spectrum disorder
ID IRRITABLE-BOWEL-SYNDROME; OF-THE-LITERATURE; FUNCTIONAL GASTROINTESTINAL
DISORDERS; VISCERAL HYPERSENSITIVITY; SOMATIC COMPLAINTS; SYMPTOMS;
METAANALYSIS; PREVALENCE; ADOLESCENTS; MODULATION
AB Objectives: To examine the one-year course of parent-reported abdominal pain in children with autism spectrum disorder (ASD), and to determine whether anxiety and sensory over-responsivity (SOR) contribute to the onset or remission of abdominal pain.
Methods: Participants included 225 children (ages 2-17) with ASD enrolled in the Autism Speaks Autism Treatment Network. Primary measures included the parent-reported GI Symptom Inventory Questionnaire, Child Behavior Checklist, and Short Sensory Profile.
Results: One-fourth (25.8%) experienced chronic abdominal pain (duration >= 3 months) at baseline, persisting at one-year follow-up for 86.7%. New onset pain occurred for 23.8% of those without baseline pain. Anxiety, SOR, and chronic abdominal pain were associated at baseline. SOR significantly predicted new onset pain, but neither anxiety nor SOR were predictors of pain remission.
Conclusions: Abdominal pain appears to be common and persistent among children with ASD. The relations among SOR, anxiety and abdominal pain offer information about potential underlying mechanisms. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Mazurek, Micah O.] Univ Missouri, Dept Hlth Psychol, Columbia, MO 65211 USA.
[Mazurek, Micah O.] Thompson Ctr Autism & Neurodev Disorders, Columbia, MO 65211 USA.
[Keefer, Amy; Vasa, Roma A.] Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD 21211 USA.
[Shui, Amy] MassGen Hosp Children, MGH Biostat Ctr, Boston, MA 02114 USA.
[Vasa, Roma A.] Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21287 USA.
RP Mazurek, MO (reprint author), Univ Missouri, Dept Hlth Psychol, 205 Portland St, Columbia, MO 65211 USA.
EM mazurekm@missouri.edu; keefer@kennedykrieger.org; ashui@mgh.harvard.edu;
vasa@kennedykrieger.org
CR Achenbach TM, 2001, MANUAL ASEBA SCH AGE
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NR 57
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1508
EP 1515
DI 10.1016/j.rasd.2014.07.018
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100008
ER
PT J
AU Hastings, RP
Petalas, MA
Jones, L
Totsika, V
AF Hastings, Richard P.
Petalas, Michael A.
Jones, Leah
Totsika, Vasiliki
TI Systems analysis of associations over time between maternal and sibling
well-being and behavioral and emotional problems of children with autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Siblings; Mothers; Behavior problems; Maternal depression; Strengths and
Difficulties Questionnaire; Longitudinal design
ID SPECTRUM DISORDERS; MENTAL-HEALTH; INTELLECTUAL DISABILITY; STRESS;
ADJUSTMENT; ADOLESCENTS; DEPRESSION; FAMILIES; FATHERS; MOTHERS
AB Taking a family systems perspective, several research studies have shown that the family context (especially maternal well-being) predicts psychological adjustment in children with autism. This work has mainly focused on dyadic relationships in the family (especially parent-child reciprocal effects). In the present study, we extended a systems perspective in autism family research to a triad involving the child with autism, their mother, and a sibling, and also adopted a longitudinal design. Mothers from 60 families of children with autism reported on their own depression, and the behavior problems and pro-social behavior of their child with autism and a sibling. Results from longitudinal regression models suggested that earlier levels of maternal depression and sibling pro-social behavior did not have an independent effect on the behavior problems or pro-social behavior of children with autism 2.5-3 years later. Earlier levels of sibling behavior problems were associated with increased behavior problems of the child with autism 2.5-3 years later. Although replication is required, these are the first data to suggest that outcomes for children with autism may be affected by their siblings' psychological adjustment. The methodology of longitudinal family systems analysis of triadic relationships has important research and practical implications. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Hastings, Richard P.; Totsika, Vasiliki] Univ Warwick, Ctr Educ Dev Appraisal & Res, Coventry CV4 7AL, W Midlands, England.
[Jones, Leah] Bangor Univ, Sch Psychol, Bangor, Gwynedd, Wales.
RP Hastings, RP (reprint author), Univ Warwick, Ctr Educ Dev Appraisal & Res, Coventry CV4 7AL, W Midlands, England.
EM R.Hastings@warwick.ac.uk
RI Hastings, Richard/D-9657-2013
OI Hastings, Richard/0000-0002-0495-8270
CR Baker JK, 2011, J FAM PSYCHOL, V25, P601, DOI 10.1037/a0024409
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Totsika V, 2011, J CHILD PSYCHOL PSYC, V52, P91, DOI 10.1111/j.1469-7610.2010.02295.x
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NR 23
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1516
EP 1520
DI 10.1016/j.rasd.2014.07.012
PG 5
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100009
ER
PT J
AU Romano, M
Truzoli, R
Osborne, LA
Reed, P
AF Romano, Michela
Truzoli, Roberto
Osborne, Lisa A.
Reed, Phil
TI The relationship between autism quotient, anxiety, and internet
addiction
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Internet addiction; Autism; Depression; Anxiety
ID SPECTRUM QUOTIENT; COLLEGE-STUDENTS; PHENOTYPE; DEPRESSION; DISORDERS;
PARENTS; AQ; CHILDREN
AB This study investigated internet addiction across the broad autism phenotype, and assessed the degree to which internet addiction in individuals with higher autism quotient scores may be mediated by co-morbid depression and anxiety. Ninety participants were given a range of psychometric assessments to determine their level of problematic internet usage (Internet Addiction Test), autism traits (Autism Quotient Scale), depression (Beck Depression Inventory), and anxiety (Speilberger Trait Anxiety Scale). Significant associations were found between both autism, and anxiety, and internet addiction. However, the association between autism traits and internet addiction was moderited by high level for anxiety, such that individuals with high numbers of autism traits showed less evidence of internet addiction if they also displayed high levels of anxiety. It is suggested that the presence of anxiety in these individuals alters the function that internet behavior serves, and makes internet addiction less likely. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Romano, Michela; Truzoli, Roberto] Univ Milan, I-20122 Milan, Italy.
[Reed, Phil] Swansea Univ, Swansea SA2 8PP, W Glam, Wales.
RP Reed, P (reprint author), Swansea Univ, Dept Psychol, Singleton Pk, Swansea SA2 8PP, W Glam, Wales.
EM P.Reed@swansea.ac.uk
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Young KS, 1998, CAUGHT NET
NR 41
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1521
EP 1526
DI 10.1016/j.rasd.2014.08.002
PG 6
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100010
ER
PT J
AU Keefer, AJ
Kalb, L
Mazurek, MO
Kanne, SM
Freedman, B
Vasa, RA
AF Keefer, A. J.
Kalb, L.
Mazurek, M. O.
Kanne, S. M.
Freedman, B.
Vasa, R. A.
TI Methodological considerations when assessing restricted and repetitive
behaviors and aggression
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Aggression; Repetitive behavior; Methodology
ID AUTISM SPECTRUM DISORDERS; CHALLENGING BEHAVIORS; INTELLECTUAL
DISABILITIES; PHYSICAL AGGRESSION; YOUNG-CHILDREN; REPORT FORM; SCALE;
ADOLESCENTS; VALIDATION; CHECKLIST
AB Methodological issues impacting the relationship between aggression and restricted, repetitive, and stereotyped behaviors and interests (RRSBI) were examined in 2648 children and adolescents with autism spectrum disorders (ASD) using a multi-method, multi-informant analysis model to assess the effects of informant, assessment method, and aggression phenotype. Overall, a significant, but small relationship was found between RRSBI and aggression (p < .05). There was significant heterogeneity of estimates with large effect sizes observed when utilizing teacher report and a broad phenotype of aggression. Variance in estimates was attributed to differences in informant and assessment method with two times greater effect attributed to informant. Results suggest strategies to optimize future investigations of the relationship between RRSBI and aggression. Findings also provide the opportunity for the development of targeted interventions for aggression in youth with ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Keefer, A. J.] Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD 21211 USA.
[Kalb, L.] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Mental Hlth, Baltimore, MD 21205 USA.
[Mazurek, M. O.; Kanne, S. M.] Univ Missouri, Dept Hlth Psychol, Columbia, MO 65211 USA.
[Mazurek, M. O.; Kanne, S. M.] Thompson Ctr Autism & Neurodev Disorders, Columbia, MO 65211 USA.
[Freedman, B.] Univ Delaware, Ctr Disabil Studies, Newark, DE 19716 USA.
[Vasa, R. A.] Johns Hopkins Univ, Sch Med, Dept Psychiat, Ctr Autism & Related Disorders,Kennedy Krieger In, Baltimore, MD 21211 USA.
RP Keefer, AJ (reprint author), Kennedy Krieger Inst, Ctr Autism & Related Disorders, 3901 Greenspring Ave, Baltimore, MD 21211 USA.
EM keefer@kennedykrieger.org
CR Achenbach TM, 2001, MANUAL ASEBA PRESCHO
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NR 43
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1527
EP 1534
DI 10.1016/j.rasd.2014.07.019
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100011
ER
PT J
AU Ruiz-Robledillo, N
Moya-Albiol, L
AF Ruiz-Robledillo, N.
Moya-Albiol, L.
TI Emotional intelligence modulates cortisol awakening response and
self-reported health in caregivers of people with autism spectrum
disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Emotional intelligence; Caregivers; Autism spectrum disorders; Health;
Cortisol awakening response
ID META-MOOD SCALE; SALIVARY CORTISOL; SOCIAL SUPPORT; STRESS; VERSION;
PREDICTORS; CHILDREN; QUESTIONNAIRE; ENDOCRINE; VALIDITY
AB Caring for people with autism spectrum disorders (ASDs) has negative consequences for caregivers' health. Specifically, caregivers of people with ASDs have been observed to have more somatic symptoms, poorer self-perceived general health, poorer social functioning and altered immune and endocrine systems. Various positive variables including emotional intelligence (El) have been found to protect health in several populations, but no studies have previously analyzed the effect of El in caregivers of people with ASDs. The present study aimed to analyze the association of the three components of El (attention, clarity and repair) with self-reported health and cortisol awakening response (CAR) in caregivers of offspring with ASD. Attention was negatively associated and clarity positively associated with self-reported health. Clarity and repair were associated with a lower magnitude of CAR, estimated by the area under the curve with respect to ground (AUCg). Moreover, CAR AUCg was a mediator in the association of clarity and repair with self-perceived general health. These results confirm that El components have different effects on health in caregivers of people with ASDs. El should be included as a target of interventions to improve health in this population. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Ruiz-Robledillo, N.; Moya-Albiol, L.] Univ Valencia, Fac Psychol, Dept Psychobiol, Valencia 46010, Spain.
RP Moya-Albiol, L (reprint author), Univ Valencia, Fac Psychol, Dept Psychobiol, Ave Blasco Ibanez 21, Valencia 46010, Spain.
EM Nicolas.Ruiz@uv.es; Luis.Moya@uv.es
CR Barker ET, 2011, DEV PSYCHOL, V47, P551, DOI 10.1037/a0021268
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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
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1535
EP 1543
DI 10.1016/j.rasd.2014.08.003
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100012
ER
PT J
AU Chien, SHL
Wang, LH
Chen, CC
Chen, TY
Chen, HS
AF Chien, Sarina Hui-Lin
Wang, Liang-Huei
Chen, Chien-Chung
Chen, Tzu-Yun
Chen, Hsin-Shui
TI Autistic children do not exhibit an own-race advantage as compared to
typically developing children
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Face processing; Other-race effect; Own-race advantage
ID FACE RECOGNITION; SPECTRUM DISORDERS; EYE CONTACT; GAZE; EXPERIENCE;
LOOKING; ABILITY; MEMORY; BIAS
AB The characteristics of aberrant face processing in individuals with autism spectrum disorder (ASD) have been extensively studied, but the aspect regarding sensitivity to race is relatively unexplored. The present study hypothesized that the magnitude of the other-race effect shall be reduced in individuals with ASD owing to their inattention to faces since infancy. Using a sequential face discrimination task, we tested the other-race effect of 18 ASD (mean age = 7.5 years) and 13 age-matched typically developing (TD) children (mean age = 7.6 years). The stimuli were cropped Asian and African faces, each with four levels of difficulty: easy (change identity), medium (replaced eyes), hard-eye (widen eye spacing), and hard-mouth (moved up mouth). The TD children showed a significant own-race advantage such that the best performance was found in the Asian easy condition. The ASD children did not exhibit such advantage at all. Moreover, ASD children showed the highest error rates in the hard-eye condition instead of the hard-mouth condition, indicating insensitivity to eyes region. In sum, our findings support the hypothesis that the other-race effect is reduced in ASD children, reflecting an incomplete development of an expert face system. (C) 2014 The Authors. Published by Elsevier Ltd.
C1 [Chien, Sarina Hui-Lin; Wang, Liang-Huei] China Med Univ, Grad Inst Neural & Cognit Sci, Taichung 40402, Taiwan.
[Wang, Liang-Huei; Chen, Tzu-Yun; Chen, Hsin-Shui] China Med Univ, Bei Gang Hosp, Dept Phys Med & Rehabil, Yunlin, Taiwan.
[Chen, Chien-Chung] Natl Taiwan Univ, Dept Psychol, Taipei 10764, Taiwan.
RP Chien, SHL (reprint author), China Med Univ, Coll Life Sci, Grad Inst Neural & Cognit Sci, 91 Hsueh Shih Rd, Taichung 40402, Taiwan.
EM sarinachien@mail.cmu.edu.tw
RI Chen, HsinShui/C-7898-2015
CR American Psychiatric Association, 2006, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 39
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1544
EP 1551
DI 10.1016/j.rasd.2014.08.005
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100013
ER
PT J
AU Goldin, RL
Matson, JL
Cervantes, PE
AF Goldin, Rachel L.
Matson, Johnny L.
Cervantes, Paige E.
TI The effect of intellectual disability on the presence of comorbid
symptoms in children and adolescents with autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Intellectual disability; Comorbid symptoms;
Autism Spectrum Disorders-Comorbidity for Children (ASD-C-C)
ID SEVERE RETARDATION MESSIER; II DASH-II; MENTAL-RETARDATION; MATSON
EVALUATION; PSYCHIATRIC-DISORDERS; DIAGNOSTIC-ASSESSMENT; SOCIAL-SKILLS;
DSM-IV; PSYCHOPATHOLOGY; INDIVIDUALS
AB Research is limited in examining the presence of comorbid symptoms in children and adolescents with autism spectrum disorder (ASD) and co-occurring intellectual disability (ID). The current study aimed to expand knowledge in this area by evaluating the presence of comorbid symptoms in children and adolescents with ASD, compared to those with ASD and ID. Comorbid symptoms examined using the Autism Spectrum Disorders-Comorbidity for Children (ASD-C-C) included tantrum behavior, repetitive behavior, worry/depression, avoidant behavior, under-eating, conduct problems, and over-eating. Two hundred and nineteen children and adolescents ranging from 3 to 16 years of age participated in the study. Significant differences were not found between the groups on any of the comorbid symptoms measured. The implications of these findings on treatment are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Goldin, Rachel L.; Matson, Johnny L.; Cervantes, Paige E.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Goldin, RL (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM rgold3@lsu.edu
CR Advokat CD, 2000, RES DEV DISABIL, V21, P75, DOI 10.1016/S0891-4222(99)00031-1
[Anonymous], 2002, WISC 4 TECHN MAN 2
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NR 44
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1552
EP 1556
DI 10.1016/j.rasd.2014.08.006
PG 5
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100014
ER
PT J
AU Brian, AJ
Roncadin, C
Duku, E
Bryson, SE
Smith, IM
Roberts, W
Szatmari, P
Drmic, I
Zwaigenbaum, L
AF Brian, A. Jessica
Roncadin, C.
Duku, E.
Bryson, S. E.
Smith, I. M.
Roberts, W.
Szatmari, P.
Drmic, I.
Zwaigenbaum, L.
TI Emerging cognitive profiles in high-risk infants with and without autism
spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE High-risk siblings; Cognitive development; Infants; Toddlers;
Developmental trajectories; ASD
ID PERVASIVE DEVELOPMENTAL DISORDERS; SIBLINGS RESEARCH CONSORTIUM;
UNAFFECTED SIBLINGS; BABY SIBLINGS; YOUNG-CHILDREN; AGE; STABILITY;
COMMUNICATION; REGRESSION; IQ
AB This paper examined early developmental trajectories in a large, longitudinal sample at high-risk for ASD ('HR') and low-risk ('LR') controls, and the association of trajectories with 3-year diagnosis. Developmental assessments were conducted at 6, 12, 24 months, and 3 years, with blinded "clinical best-estimate" expert diagnosis at age 3. HR infants were enrolled based only on familial risk. LR infants, from community sources, had no first- or second-degree ASD relatives. All infants were born at 36-42 weeks, weighing >= 2500 g, with no identifiable neurological, genetic, or severe sensory/motor disorders. Analytic phase I: semi-parametric group-based modeling to identify distinct developmental trajectories (n = 680; 487 HR; 193 LR); phase II: Trajectory membership in relation to 3-year diagnosis (n = 424; 310 HR; 114 LR). Three distinct trajectories emerged (1) inclining; (2) stable-average; (3) declining; trajectory membership predicted diagnosis (chi(2) = 99.40; p < .001). Most ASD cases were in stable-average (50.6%) or declining trajectories (33.8%); most non-ASD-HR infants were in inclining (51.9%) or stable-average (40.3%) trajectories. The majority of LR controls were in the inclining trajectory (78.9%). Within the declining trajectory, over half had ASD (57.8%), but 40% were non-ASD-HR infants. Declining/plateauing raw scores were associated with, but not exclusive to, ASD. Findings underscore the importance of monitoring the emergence of ASD symptoms and overall development in high-risk children. Evidence of developmental slowing or decline may be associated not only with ASD, but with other suboptimal outcomes, warranting careful clinical follow-up. (C) 2014 The Authors. Published by Elsevier Ltd.
C1 [Brian, A. Jessica] Univ Toronto, Dept Paediat, Holland Bloorview Kids Rehabil Hosp, Autism Res Ctr, Toronto, ON M4G 1R8, Canada.
[Brian, A. Jessica] Univ Toronto, Sch Grad Studies, ARU, SickKids, Toronto, ON M4G 1R8, Canada.
[Roncadin, C.] Autism Serv, Kinark Child Serv, Markham, ON, Canada.
[Roncadin, C.] Autism Serv, Kinark Family Serv, Markham, ON, Canada.
[Roncadin, C.] Univ Toronto, Sch Grad Studies, Toronto, ON M4G 1R8, Canada.
[Duku, E.] McMaster Univ, Dept Psychiat & Behav Neurosci, Hamilton, ON, Canada.
[Bryson, S. E.; Smith, I. M.] Dalhousie Univ, IWK Hlth Ctr, Halifax, NS, Canada.
[Roberts, W.] Univ Toronto, Autism Res Unit SickKids, Toronto, ON M4G 1R8, Canada.
[Roberts, W.] Univ Toronto, Dept Paediat, Toronto, ON M4G 1R8, Canada.
[Szatmari, P.] Hosp Sick Children, Toronto, ON M5G 1X8, Canada.
[Szatmari, P.] Ctr Addict & Mental Hlth Toronto, Toronto, ON, Canada.
[Drmic, I.] ARU SickKids & Holland Bloorview, Toronto, ON, Canada.
[Zwaigenbaum, L.] Univ Alberta, Dept Pediat, Glenrose Rehabil Hosp, Autism Res Ctr, Edmonton, AB, Canada.
RP Brian, AJ (reprint author), Univ Toronto, Bloorview Res Inst, 150 Kilgour Rd, Toronto, ON M4G 1R8, Canada.
EM jbrian@hollandbloorview.ca; caroline.roncadin@kinark.on.ca;
Duku@mcmaster.ca; Susan.bryson@iwk.nshealth.ca;
Isabel.smith@iwk.nshealth.ca; Wendy.roberts@sickkids.ca;
peter.szatmari@utoronto.ca; idrmic@hollandbloorview.ca;
lonnie.zwaigenbaum@albertahealthservices.ca
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NR 54
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1557
EP 1566
DI 10.1016/j.rasd.2014.07.021
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100015
ER
PT J
AU Yeung, MK
Han, YMY
Sze, SL
Chan, AS
AF Yeung, Michael K.
Han, Yvonne M. Y.
Sze, Sophia L.
Chan, Agnes S.
TI Altered right frontal cortical connectivity during facial emotion
recognition in children with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Facial emotion; Social; Connectivity; Theta;
Coherence
ID HIGH-FUNCTIONING ADULTS; ASPERGER-SYNDROME; SUSTAINED ATTENTION;
PREFRONTAL CORTEX; EEG COHERENCE; THETA OSCILLATIONS; NEURAL CIRCUITRY;
BASIC EMOTIONS; EXPRESSIONS; FACES
AB A growing body of evidence suggests that autism spectrum disorders (ASD) is associated with altered functional connectivity of the brain and with impairment in recognizing others' emotions. To better understand the relationships among these neural and behavioral abnormalities, we examined cortical connectivity which was indicated by theta coherence during tasks of facial emotion recognition in 18 children with ASD and 18 typically developing (TD) children who were between 6 and 18 years of age. We found that the children with ASD had general impairment in recognizing facial emotions, after controlling for response bias. Additionally, we found that the TO children demonstrated significant modulation of right frontal theta coherence in response to emotional faces compared to neutral faces, whereas children with ASD did not exhibit any modulation of theta coherence. The extent of modulation of theta coherence to emotions was further found to be related to the severity of social impairments in ASD. Our findings of a general impairment in facial emotion recognition and the involvement of disordered cortical connectivity in social deficits in children with ASD have shed light for future exploration of interventions regarding emotional processing and social functioning in ASD. (C) 2014 Published by Elsevier Ltd.
C1 [Yeung, Michael K.; Sze, Sophia L.; Chan, Agnes S.] Chinese Univ Hong Kong, Dept Psychol, Neuropsychol Lab, Shatin, Hong Kong, Peoples R China.
[Han, Yvonne M. Y.] Hong Kong Inst Educ, Dept Special Educ & Counselling, Tai Po, Hong Kong, Peoples R China.
RP Chan, AS (reprint author), Chinese Univ Hong Kong, Dept Psychol, Shatin, Hong Kong, Peoples R China.
EM mkcyeung@psy.cuhk.edu.hk; ymyhan@ied.edu.hk; lmsze@psy.cuhk.edu.hk;
aschan@psy.cuhk.edu.hk
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NR 75
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1567
EP 1577
DI 10.1016/j.rasd.2014.08.013
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100016
ER
PT J
AU Matson, JL
Adams, HL
AF Matson, Johnny L.
Adams, Hilary L.
TI Characteristics of aggression among persons with autism spectrum
disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Review
DE Aggression; Autism; Maintaining variables; Characteristics
ID PERVASIVE DEVELOPMENTAL DISORDER; BEHAVIORAL FUNCTION QABF; FEEDING
PROBLEMS STEP; CHALLENGING BEHAVIORS; PDD-NOS; INTELLECTUAL DISABILITY;
FUNCTIONAL-ANALYSIS; SCREENING TOOL; SOCIAL-SKILLS; CHILDREN
AB Autism spectrum disorder (ASD) is a commonly occurring life long developmental disorder with core symptoms of communication and social skills deficits. Stereotyped and repetitive behaviors are also present. Along with these core symptoms, a number of co-occurring problems such as aggression are present. The present study reviewed papers that describe various characteristics of aggressive behaviors among persons with ASD. The preponderance of studies involved children who were male. Aggression was more severe in males. Where the maintaining variables were studied, tangible and escape, and some core aspects of ASD such as cognitive rigidity and poor social and communication skills, were associated with aggression. The implication of these data and other characteristics of this challenging behavior are discussed. Published by Elsevier Ltd.
C1 [Matson, Johnny L.; Adams, Hilary L.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Adams, HL (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM hilary.l.adams@gmail.com
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 64
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1578
EP 1584
DI 10.1016/j.rasd.2014.08.004
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100017
ER
PT J
AU Matson, JL
Konst, MJ
AF Matson, Johnny L.
Konst, Matthew J.
TI Early intervention for autism: Who provides treatment and in what
settings
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Early intervention; Parents; Applied behavior analysis;
Treatment
ID INTENSIVE BEHAVIORAL INTERVENTION; PROFOUND MENTAL-RETARDATION; II
DASH-II; PERVASIVE DEVELOPMENTAL DISORDER; CHILDREN ASD-DC; SPECTRUM
DISORDERS; YOUNG-CHILDREN; SOCIAL-SKILLS; INTELLECTUAL DISABILITY;
DIAGNOSTIC-ASSESSMENT
AB Early intensive interventions have become popular. Thus, not surprisingly, the amount of research surrounding this topic has increased and evolved rapidly. The persons providing treatment, the settings in which treatment is provided, and the methods used have varied considerably. This paper reviews current trends. For example, 20-40 h of therapy weekly has consistently characterized the literature. Conversely, the role of parents has transformed as they have increasingly become co-therapists. One major concern is that little effort has been put into the transition from these intensive programs to educational settings. These factors and related parameters are reviewed and the implications are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Matson, Johnny L.; Konst, Matthew J.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Konst, MJ (reprint author), LSU, Dept Psychol, Baton Rouge, LA 70803 USA.
EM mkonst1@tigers.lsu.edu
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NR 77
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1585
EP 1590
DI 10.1016/j.rasd.2014.08.007
PG 6
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100018
ER
PT J
AU Shih, CH
Chang, ML
Wang, SH
Tseng, CL
AF Shih, Ching-Hsiang
Chang, Man-Ling
Wang, Shu-Hui
Tseng, Chang-Lu
TI Assisting students with autism to actively perform collaborative walking
activity with their peers using dance pads combined with preferred
environmental stimulation
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE ASD; FPPDP; Dance pad; Collaborative walking activity
ID SOCIAL-SKILLS; CHILDREN
AB The purpose of this study was to provide students with autism spectrum disorders (ASDs) the opportunity to cooperate with their peers. This experiment was designed so that students with ASD and their partners were required to perform the collaborative walking activity using dance pads combined with preferred stimulation. With the foot-pressing position detection program (FPPDP) software, standard dance pads could be used as foot-pressing position detectors to detect participants' collaborative walking activities. An ABAB design was adopted in this experiment, where A represented baseline phases, and B represented intervention phases. The experimental results show that the participants increased their willingness to perform the assigned task and the actual amount of collaborative walking activity also increased during the intervention phases compared to the baseline phases. Practical and developmental implications of the findings are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Shih, Ching-Hsiang; Wang, Shu-Hui; Tseng, Chang-Lu] Natl Dong Hwa Univ, Dept Special Educ, Hualien 970, Taiwan.
[Chang, Man-Ling] Natl Taiwan Normal Univ, Dept Special Educ, Taipei, Taiwan.
RP Shih, CH (reprint author), Natl Dong Hwa Univ, Dept Special Educ, Hualien 970, Taiwan.
EM schee@mail.ndhu.edu.tw
CR Chung KM, 2007, RES DEV DISABIL, V28, P423, DOI 10.1016/j.ridd.2006.05.002
Corbett BA, 2014, AUTISM RES, V7, P4, DOI 10.1002/aur.1341
DDRGame, 2014, DDR REG MATS PS PS2
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Lenovo, 2014, LEN C560 TOUCH ALL I
Richards S. B., 1999, SINGLE SUBJECT RES A
Shih CH, 2014, RES DEV DISABIL, V35, P2394, DOI 10.1016/j.ridd.2014.06.011
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Sperry L, 2010, PREVENTING SCH FAILU, V54, P256
WING L, 1979, J AUTISM DEV DISORD, V9, P11, DOI 10.1007/BF01531288
NR 11
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1591
EP 1596
DI 10.1016/j.rasd.2014.08.011
PG 6
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100019
ER
PT J
AU Dixon, MR
Belisle, J
Whiting, SW
Rowsey, KE
AF Dixon, Mark R.
Belisle, Jordan
Whiting, Seth W.
Rowsey, Kyle E.
TI Normative sample of the PEAK relational training system: Direct training
module and subsequent comparisons to individuals with autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE PEAK; Language; Cognition; Autism; Normative data
ID SKINNERS VERBAL-BEHAVIOR; CHILDREN; INTELLIGENCE
AB The present data provide a normative sample of the PEAK: direct training module assessment and a subsequent comparison to individuals with autism. Altogether, 206 typically developing participants and 94 participants with autism took part in the study. For the normative sample, there was a strong relationship between PEAK total score and age (r = .659, p < .01), and a cubic regression provided a strong fit for the data (R-2 = .821, t = 18.51, p < .01). The results from the autism sample suggest that there was no significant correlation between PEAK total score and age (r = .021, p = .861), and that PEAK total scores for the autism group were significantly lower than the normative sample (t(275) = 10.63, p < .001). The data suggest that PEAK may be especially useful as an assessment and curriculum guide for individuals with autism, and future research should be conducted on the increasingly complex topographies of human language and cognition that PEAK affords clinicians. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Dixon, Mark R.; Belisle, Jordan; Whiting, Seth W.; Rowsey, Kyle E.] So Illinois Univ, Carbondale, IL 62901 USA.
RP Dixon, MR (reprint author), So Illinois Univ, Carbondale, IL 62901 USA.
EM mdixon@siu.edu
CR Brown-Chidsey R., 2004, ENCY SCH PSYCHOL, P96
Dixon M. R., 2014, PEAK RELATIONAL TRAI
Dixon M. R., 2014, J DEV PHYS DISABILIT
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NR 23
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1597
EP 1606
DI 10.1016/j.rasd.2014.07.020
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100020
ER
PT J
AU Walenski, M
Mostofsky, SH
Ullman, MT
AF Walenski, Matthew
Mostofsky, Stewart H.
Ullman, Michael T.
TI Inflectional morphology in high-functioning autism: Evidence for speeded
grammatical processing
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Language; Morphology; Past tense; Procedural memory;
Basal-ganglia
ID PERVASIVE DEVELOPMENTAL DISORDERS; PAST-TENSE MORPHOLOGY; LANGUAGE
IMPAIRMENT; SPECTRUM DISORDERS; DECLARATIVE/PROCEDURAL MODEL; SENTENCE
COMPREHENSION; TOURETTES-SYNDROME; ASPERGER-SYNDROME; VERB MORPHOLOGY;
BASAL GANGLIA
AB Autism is characterized by language and communication deficits. We investigated grammatical and lexical processes in high-functioning autism by contrasting the production of regular and irregular past-tense forms. Boys with autism and typically developing control boys did not differ in accuracy or error rates. However, boys with autism were significantly faster than controls at producing rule-governed past-tenses (slip-slipped, plim-plimmed, bring-bringed), though not lexically dependent past-tenses (bring-brought, squeeze-squeezed, splim-splam). This pattern mirrors previous findings from Tourette syndrome attributed to abnormalities of frontal/basal-ganglia circuits that underlie grammar. We suggest a similar abnormality underlying language in autism. Importantly, even when children with autism show apparently normal language (e.g., in accuracy or with diagnostic instruments), processes and/or brain structures subserving language may be atypical in the disorder. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Walenski, Matthew] San Diego State Univ, San Diego, CA 92120 USA.
[Mostofsky, Stewart H.] Kennedy Krieger Inst, Baltimore, MD USA.
[Mostofsky, Stewart H.] Johns Hopkins Univ, Sch Med, Baltimore, MD 21218 USA.
[Ullman, Michael T.] Georgetown Univ, Washington, DC 20057 USA.
RP Walenski, M (reprint author), San Diego State Univ, Language & Neurosci Grp, 6505 Alvarado Rd,Suite 204, San Diego, CA 92120 USA.
EM mwalenski@ucsd.edu
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NR 96
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1607
EP 1621
DI 10.1016/j.rasd.2014.08.009
PG 15
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100021
ER
PT J
AU Drake, JE
AF Drake, Jennifer E.
TI Knowing how to look predicts the ability to draw realistically
SO BRITISH JOURNAL OF DEVELOPMENTAL PSYCHOLOGY
LA English
DT Article
DE perceptual abilities; graphic representation; giftedness; visual arts
ID SPATIAL AXES SYSTEMS; VARYING COMPLEXITY; CHILDRENS DRAWINGS; SIZE
MODIFICATION; HUMAN FIGURE; OBJECTS; AUTISM; CUBES
AB Some young children are able to create stunningly realistic drawings resembling those of adult artists. What perceptual abilities underlie this talent? This study examined two candidate skills on which adult artists excel: the ability to segment a complex form mentally (measured by the Block Design Task) and the ability to see hidden forms (measured by the Group Embedded Figures Test). Sixty-seven 6- to 13-year-olds with a wide range of drawing abilities completed these tasks as well as an IQ test and an observational drawing task. While children who scored high on drawing realism outperformed those who scored low in drawing realism on both perceptual tasks, only detection of embedded figures predicted drawing realism. This occurred independently of age, gender, years of training, and verbal and non-verbal IQ. There are certainly many contributors to this complex ability, but one component appears to be the tendency to see things more as they really are and thereby recognize the continuous contour of an object despite interference from other overlapping objects.
C1 [Drake, Jennifer E.] CUNY Brooklyn Coll, Brooklyn, NY 11210 USA.
RP Drake, JE (reprint author), CUNY Brooklyn Coll, Dept Psychol, Brooklyn, NY 11210 USA.
EM jdrake@brooklyn.cuny.edu
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NR 41
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0261-510X
EI 2044-835X
J9 BRIT J DEV PSYCHOL
JI Br. J. Dev. Psychol.
PD NOV
PY 2014
VL 32
IS 4
BP 397
EP 414
DI 10.1111/bjdp.12048
PG 18
WC Psychology, Developmental
SC Psychology
GA AQ6DF
UT WOS:000342897700005
PM 24863053
ER
PT J
AU Klapper, A
Ramsey, R
Wigboldus, D
Cross, ES
AF Klapper, Andre
Ramsey, Richard
Wigboldus, Daniel
Cross, Emily S.
TI The Control of Automatic Imitation Based on Bottom-Up and Top-Down Cues
to Animacy: Insights from Brain and Behavior
SO JOURNAL OF COGNITIVE NEUROSCIENCE
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; MIRROR-NEURON SYSTEM; SOCIAL COGNITION;
PSYCHOPHYSIOLOGICAL INTERACTIONS; ASPERGER-SYNDROME; MIMICRY;
COMPATIBILITY; INHIBITION; MODULATION; MIND
AB Humans automatically imitate other people's actions during social interactions, building rapport and social closeness in the process. Although the behavioral consequences and neural correlates of imitation have been studied extensively, little is known about the neural mechanisms that control imitative tendencies. For example, the degree to which an agent is perceived as human-like influences automatic imitation, but it is not known how perception of animacy influences brain circuits that control imitation. In the current fMRI study, we examined how the perception and belief of animacy influence the control of automatic imitation. Using an imitation-inhibition paradigm that involves suppressing the tendency to imitate an observed action, we manipulated both bottom-up (visual input) and top-down (belief) cues to animacy. Results show divergent patterns of behavioral and neural responses. Behavioral analyses show that automatic imitation is equivalent when one or both cues to animacy are present but reduces when both are absent. By contrast, right TPJ showed sensitivity to the presence of both animacy cues. Thus, we demonstrate that right TPJ is biologically tuned to control imitative tendencies when the observed agent both looks like and is believed to be human. The results suggest that right TPJ may be involved in a specialized capacity to control automatic imitation of human agents, rather than a universal process of conflict management, which would be more consistent with generalist theories of imitative control. Evidence for specialized neural circuitry that controls imitation offers new insight into developmental disorders that involve atypical processing of social information, such as autism spectrum disorders.
C1 [Klapper, Andre; Wigboldus, Daniel; Cross, Emily S.] Radboud Univ Nijmegen, NL-6525 ED Nijmegen, Netherlands.
[Ramsey, Richard; Cross, Emily S.] Bangor Univ, Bangor LL57 2AS, Gwynedd, Wales.
RP Ramsey, R (reprint author), Bangor Univ, Wales Inst Cognit Neurosci, Sch Psychol, Bangor LL57 2AS, Gwynedd, Wales.
EM r.ramsey@bangor.ac.uk; e.cross@bangor.ac.uk
FU Economic and Social Research Council [ES/K001884/1, ES/K001892/1];
Netherlands Organisation for Scientific Research (NWO) [451-11-002]
FX Funding from the Economic and Social Research Council in the form of
future research leader awards (ES/K001884/1 to R. R. and ES/K001892/1 to
E. S. C.) and the Netherlands Organisation for Scientific Research (NWO)
in the form of a Veni award (451-11-002 to E. S. C.) is gratefully
acknowledged.
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NR 50
TC 1
Z9 1
PU MIT PRESS
PI CAMBRIDGE
PA ONE ROGERS ST, CAMBRIDGE, MA 02142-1209 USA
SN 0898-929X
EI 1530-8898
J9 J COGNITIVE NEUROSCI
JI J. Cogn. Neurosci.
PD NOV
PY 2014
VL 26
IS 11
BP 2503
EP 2513
DI 10.1162/jocn_a_00651
PG 11
WC Neurosciences; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ6FB
UT WOS:000342904200007
PM 24742157
ER
PT J
AU Barbalat, G
Leboyer, M
Zalla, T
AF Barbalat, Guillaume
Leboyer, Marion
Zalla, Tiziana
TI A specific impairment in cognitive control in individuals with
high-functioning autism
SO JOURNAL OF PSYCHIATRIC RESEARCH
LA English
DT Article
DE Autism; Asperger syndrome; Executive functions; Cognitive control;
Cascade model; Episodic memory
ID LATERAL PREFRONTAL CORTEX; LONG-TERM-MEMORY; EPISODIC MEMORY; EXECUTIVE
FUNCTIONS; SPECTRUM DISORDERS; FRONTAL-LOBE; ASPERGER-SYNDROME;
SCHIZOPHRENIA; DAMAGE; PERFORMANCE
AB Although it is largely demonstrated that Autism Spectrum Disorders (ASDs) are characterized by executive dysfunctions, little is known about the fine-grained levels of this impairment. Here, we investigated the hierarchical architecture of control modules in autism using an experimental paradigm based upon a multistage model of executive functions. This model postulates that executive functions are hierarchically organized as a cascade of three different control processes, which are implemented according to information conveyed by sensory signals (sensory control), the immediate perceptual context (contextual control), and the temporal episode in which stimuli occur (episodic control). Sixteen high-functioning adults with autism or Asperger Syndrome (HFA/AS) and sixteen matched comparison participants took part in two distinct visuo motor association experiments designed to separately vary the demands of sensory and episodic controls (first experiment) and contextual and episodic controls (second experiment). Participants with HFA/AS demonstrated no significant differences in performances with comparison participants when they had to control sensory or contextual information. However, they showed decreased accuracy when having to control information related to episodic signals. Remarkably, performances in episodic control were associated to the autism spectrum quotient in both groups, suggesting that this episodic control impairment might be at the core of ASDs. Those results plead for a specific, rather than generalised, deficit in executive functions in autism. Our study contributes to a better understanding of the impaired cognitive processes that are unique to autism and warrants confirmation using other models of executive functions. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Barbalat, Guillaume] Tunbridge Wells Hosp, Kent & Medway NHS & Social Care Partnership Trust, Tunbridge Wells TN2 4QJ, Kent, England.
[Leboyer, Marion] INSERM, IMRB, U 955, Creteil, France.
[Leboyer, Marion] Univ Paris Est Creteil, Henri Mondor Albert Chenevier Hosp, AP HP, Dept Psychiat,French Natl Sci Fdn, F-75231 Paris, France.
[Zalla, Tiziana] Ecole Normale Super, CNRS, Inst Etude Cognit, UMR 8129, F-75231 Paris, France.
RP Barbalat, G (reprint author), Tunbridge Wells Hosp, Kent & Medway NHS & Social Care Partnership Trust, Tunbridge Wells TN2 4QJ, Kent, England.
EM guillaumebarbalat@gmail.com; tiziana.zalla@ens.fr
FU Fondation Fonda-Mental; Fondation Orange
FX The authors declare that the institutions (Fondation Fonda-Mental and
Fondation Orange) that supported research reported in the manuscript had
no involvement in the collection, analysis, interpretation of data, in
the writing of the report and in the decision to submit the paper for
publication. The authors confirm that they had full access to all the
data in the study and had final responsibility for the decision to
submit for publication.
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NR 49
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0022-3956
EI 1879-1379
J9 J PSYCHIATR RES
JI J. Psychiatr. Res.
PD NOV
PY 2014
VL 58
BP 26
EP 35
DI 10.1016/j.jpsychires.2014.07.013
PG 10
WC Psychiatry
SC Psychiatry
GA AQ5RL
UT WOS:000342866200005
PM 25106070
ER
PT J
AU Sandbank, M
Yoder, P
AF Sandbank, Micheal
Yoder, Paul
TI Measuring Representative Communication in Young Children With
Developmental Delay
SO TOPICS IN EARLY CHILDHOOD SPECIAL EDUCATION
LA English
DT Article
DE generalizability studies; decision studies; children; developmental
delay; communication
ID AUTISM
AB Generalizability and decision studies provide a mathematical framework for quantifying the stability of a given number of measurements. This approach is especially relevant to the task of obtaining a representative measure of communicative behavior in young children and supports an alternative to the debate regarding which type of assessment yields the most representative scores. The current article provides a report of a generalizability and decision study on 63 toddlers with developmental delay who were treated for 6 months using an intervention that targeted communication and vocabulary goals. Two variablesrate of intentional communication acts and rate of different wordswere measured across three assessment contexts at four communication sampling periods. Results verified that measurement stability increased with time and development for both variables, regardless of the type of assessment procedure used.
C1 [Sandbank, Micheal; Yoder, Paul] Vanderbilt Univ, Nashville, TN 37203 USA.
RP Sandbank, M (reprint author), Vanderbilt Univ, Dept Special Educ, 110 Magnolia Circle,Off 414, Nashville, TN 37203 USA.
EM micheal.p.gmaz@vanderbilt.edu
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NR 21
TC 2
Z9 2
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0271-1214
EI 1538-4845
J9 TOP EARLY CHILD SPEC
JI Top. Early Child. Spec. Educ.
PD NOV
PY 2014
VL 34
IS 3
BP 133
EP 141
DI 10.1177/0271121414528052
PG 9
WC Education, Special
SC Education & Educational Research
GA AQ5FE
UT WOS:000342831100002
ER
PT J
AU Dynia, JM
Lawton, K
Logan, JAR
Justice, LM
AF Dynia, Jaclyn M.
Lawton, Kathy
Logan, Jessica A. R.
Justice, Laura M.
TI Comparing Emergent-Literacy Skills and Home-Literacy Environment of
Children With Autism and Their Peers
SO TOPICS IN EARLY CHILDHOOD SPECIAL EDUCATION
LA English
DT Article
DE autism spectrum disorder (ASD); disability populations; emergent
literacy; home environment
ID SPECTRUM DISORDERS; LANGUAGE IMPAIRMENT; READING-COMPREHENSION;
PRESCHOOL-CHILDREN; ORAL LANGUAGE; INTERVENTIONS; METAANALYSIS;
INDIVIDUALS; EXPERIENCES; ATTAINMENT
AB The purpose of the current study was to characterize and compare the emergent-literacy skills, print interest, and home-literacy environment of children with autism spectrum disorder (ASD) to their peers, as well as to examine the association between children's emergent-literacy skills and their home-literacy environment. Results indicated that children with ASD had significantly higher alphabet knowledge and significantly lower print-concept knowledge when controlling for language ability compared with their peers. Children with ASD also had significantly lower print interest than their typical peers. Moreover, print interest and frequency of storybook reading were related to children's alphabet knowledge. Clinical implications and areas for future research are discussed.
C1 [Dynia, Jaclyn M.; Lawton, Kathy; Logan, Jessica A. R.; Justice, Laura M.] Ohio State Univ, Columbus, OH 43201 USA.
RP Dynia, JM (reprint author), Ohio State Univ, Crane Ctr Early Childhood Res & Policy Educ, 220 Schoenbaum Family Ctr,175 East 7th Ave, Columbus, OH 43201 USA.
EM dynia.1@osu.edu
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NR 50
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0271-1214
EI 1538-4845
J9 TOP EARLY CHILD SPEC
JI Top. Early Child. Spec. Educ.
PD NOV
PY 2014
VL 34
IS 3
BP 142
EP 153
DI 10.1177/0271121414536784
PG 12
WC Education, Special
SC Education & Educational Research
GA AQ5FE
UT WOS:000342831100003
ER
PT J
AU Travers, JC
Krezmien, MP
Mulcahy, C
Tincani, M
AF Travers, Jason C.
Krezmien, Michael P.
Mulcahy, Candace
Tincani, Matthew
TI Racial Disparity in Administrative Autism Identification Across the
United States During 2000 and 2007
SO JOURNAL OF SPECIAL EDUCATION
LA English
DT Article
DE disproportionality; racial disparity; autism; disability prevalence
ID SPECTRUM DISORDER; PREVALENCE; CALIFORNIA; DIAGNOSIS; CHILDREN; RACE
AB Evidence of disparate identification of autism at national and local levels is accumulating, but there is little understanding about disparate identification of autism at the state level. This study examined trends in state-level administrative identification of autism under the Individuals with Disabilities Education Act. Prevalence rates and odds ratios were calculated for each state using enrollment counts for years 2000 and 2007. Results indicated increases in administrative prevalence of autism for all racial groups from 2000 to 2007, but increasing underidentification of Black and Hispanic students in 2007 compared with White students. Variability existed in the identification of autism among Black and Hispanic students across states over time. Implications for the findings are discussed in the context of the field's need to establish rigorous policies and practices for eligibility determinations due to autism and equitable access to evidence-based intervention practices.
C1 [Travers, Jason C.; Krezmien, Michael P.] Univ Massachusetts, Amherst, MA 01003 USA.
[Mulcahy, Candace] SUNY Binghamton, Binghamton, NY USA.
[Tincani, Matthew] Temple Univ, Philadelphia, PA 19122 USA.
RP Travers, JC (reprint author), Univ Massachusetts, 171 Hills South, Amherst, MA 01003 USA.
EM travers@educ.umass.edu
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NR 29
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0022-4669
EI 1538-4764
J9 J SPEC EDUC
JI J. Spec. Educ.
PD NOV
PY 2014
VL 48
IS 3
BP 155
EP 166
DI 10.1177/0022466912454014
PG 12
WC Education, Special
SC Education & Educational Research
GA AQ4DH
UT WOS:000342742000001
ER
PT J
AU Wei, X
Wagner, M
Christiano, ERA
Shattuck, P
Yu, JW
AF Wei, Xin
Wagner, Mary
Christiano, Elizabeth R. A.
Shattuck, Paul
Yu, Jennifer W.
TI Special Education Services Received by Students With Autism Spectrum
Disorders From Preschool Through High School
SO JOURNAL OF SPECIAL EDUCATION
LA English
DT Article
DE autism; special education; service; age; disability severity;
demographic characteristics
ID EARLY INTERVENTION; YOUNG-CHILDREN; AGE; SATISFACTION; PROGRAMS;
PARENTS; SAMPLE; YOUTH; CARE
AB Little is known about how special education services received by students with Autism Spectrum Disorders (ASDs) differ by age, disability severity, and demographic characteristics. Using three national data sets, the Pre-Elementary Education Longitudinal Study, the Special Education Elementary Longitudinal Study, and the National Longitudinal Transition Study-2, this study examined the age trends in special education services received by students with ASDs from preschool through high school. Elementary school students with ASDs had higher odds of receiving adaptive physical education, specialized computer software or hardware, and special transportation, but lower odds of receiving learning strategies/study skills support than their preschool peers. Secondary school students had lower odds of receiving speech/language or occupational therapy and of having a behavior management program, but higher odds of receiving mental health or social work services than their elementary school peers. Disability severity and demographic characteristics were associated with differences in special education service receipt rates.
C1 [Wei, Xin; Wagner, Mary; Christiano, Elizabeth R. A.; Yu, Jennifer W.] SRI Int, Menlo Pk, CA 94025 USA.
[Shattuck, Paul] Washington Univ, St Louis, MO USA.
RP Wei, X (reprint author), SRI Int, Ctr Educ & Human Serv, 333 Ravenswood Ave,BS169, Menlo Pk, CA 94025 USA.
EM xin.wei@sri.com
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Yeargin-Allsopp M, 2003, JAMA-J AM MED ASSOC, V289, P49, DOI 10.1001/jama.289.1.49
NR 30
TC 2
Z9 2
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0022-4669
EI 1538-4764
J9 J SPEC EDUC
JI J. Spec. Educ.
PD NOV
PY 2014
VL 48
IS 3
BP 167
EP 179
DI 10.1177/0022466913483576
PG 13
WC Education, Special
SC Education & Educational Research
GA AQ4DH
UT WOS:000342742000002
ER
PT J
AU Connolly, JJ
Hakonarson, H
AF Connolly, John J.
Hakonarson, Hakon
TI Etiology of Autism Spectrum Disorder: A Genomics Perspective
SO CURRENT PSYCHIATRY REPORTS
LA English
DT Article
DE Autism; ASD; Autism spectrum disorder; Genomic; Genetic; Gene; GWAS;
Genome-wide association; CNV; Copy number variation; NGS;
Next-generation sequencing; SGS; Second-generation sequencing
ID COPY-NUMBER VARIATION; FRAGILE-X-SYNDROME; DE-NOVO MUTATIONS; COMMON
GENETIC-VARIANTS; CHINESE HAN POPULATION; INTELLECTUAL-DISABILITY;
FAMILIAL RISK; ASSOCIATION ANALYSIS; MENTAL-RETARDATION; SCHIZOPHRENIA
AB In recent years, considerable progress has been made in understanding the genomic basis of autism spectrum disorder (ASD). Hundreds of variants have been proposed as predisposing to ASD, and the challenge now is to validate candidates and to understand how gene networks interact to produce ASD phenotypes. Genome-wide association and second-generation sequencing studies in particular have provided important indications about how to understand ASD on a molecular level, and we are beginning to see these experimental approaches translate into novel treatments and diagnostic tests. We review key studies in the field over the past five years and discuss some of the remaining technological and methodological challenges that remain.
C1 [Connolly, John J.; Hakonarson, Hakon] Childrens Hosp Philadelphia, Philadelphia CHOP, Ctr Appl Genom, Philadelphia, PA 19104 USA.
[Hakonarson, Hakon] Perelman Sch Med, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA.
[Hakonarson, Hakon] CHOP, Philadelphia, PA 19104 USA.
RP Connolly, JJ (reprint author), Childrens Hosp Philadelphia, Philadelphia CHOP, Ctr Appl Genom, Philadelphia, PA 19104 USA.
EM connollyj1@email.chop.edu; hakonarson@email.chop.edu
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NR 97
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1523-3812
EI 1535-1645
J9 CURR PSYCHIAT REP
JI Curr. Psychiatry Rep.
PD NOV
PY 2014
VL 16
IS 11
AR 501
DI 10.1007/s11920-014-0501-9
PG 9
WC Psychiatry
SC Psychiatry
GA AQ0AX
UT WOS:000342444800008
PM 25212713
ER
PT J
AU Escudero, I
Johnstone, M
AF Escudero, Irene
Johnstone, Mandy
TI Genetics of Schizophrenia
SO CURRENT PSYCHIATRY REPORTS
LA English
DT Article
DE Schizophrenia; Genetics; Copy number variants; Single nucleotide
polymorphisms; Common variants; Rare variants; Neurodevelopmental
disorders
ID GENOME-WIDE ASSOCIATION; BRAIN-DEVELOPMENT; BIPOLAR DISORDER;
ANIMAL-MODELS; RISK LOCI; MUTATIONS; DISC1; ENDOPHENOTYPE;
TRANSLOCATION; ARCHITECTURE
AB The genetic basis of schizophrenia has been a hotly debated research topic for decades, yet recent studies, especially in the past year, have confirmed genetics as the major cause of this complex condition. Psychiatry has come of age: it is perhaps more difficult for the current generation of psychiatrists, to comprehend how the biological root of the condition could have been denied for so long. Here we review how highly collaborative global efforts to pool samples, utilise the very latest advances in genotyping and high throughput sequencing technologies, and application of robust statistical analysis have reaped phenomenal rewards. The major findings are that schizophrenia is a highly polygenic disorder with a complex array of risk loci, many include genes implicated also in intellectual disability, autism spectrum disorders, bipolar disorder and major depressive disorder. These candidate genes converge on key neuronal signalling pathways identifying novel targets for potential future therapeutic intervention.
C1 [Escudero, Irene; Johnstone, Mandy] Univ Edinburgh, Inst Genet & Mol Med, Western Gen Hosp, Ctr Genom & Expt Med, Edinburgh EH4 2XU, Midlothian, Scotland.
[Johnstone, Mandy] Univ Edinburgh, Royal Edinburgh Hosp, Div Psychiat, Edinburgh EH10 5HF, Midlothian, Scotland.
RP Johnstone, M (reprint author), Univ Edinburgh, Royal Edinburgh Hosp, Div Psychiat, Morningside Terrace, Edinburgh EH10 5HF, Midlothian, Scotland.
EM mandy.johnstone@ed.ac.uk
FU EUROlife Scholarship from the University of Barcelona, Spain; Wellcome
Trust; Academy of Medical Sciences; RS Macdonald Charitable Trust
FX Irene Escudero is a Master's student on exchange at the University of
Edinburgh funded by a EUROlife Scholarship from the University of
Barcelona, Spain. Mandy Johnstone is a PI at the CGEM and is supported
by a Wellcome Trust Postdoctoral Clinical Fellowship. This work has also
been funded by a starter grant from the Academy of Medical Sciences (to
Mandy Johnstone) and a grant from the RS Macdonald Charitable Trust (to
Mandy Johnstone).
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NR 44
TC 1
Z9 1
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1523-3812
EI 1535-1645
J9 CURR PSYCHIAT REP
JI Curr. Psychiatry Rep.
PD NOV
PY 2014
VL 16
IS 11
AR 502
DI 10.1007/s11920-014-0502-8
PG 6
WC Psychiatry
SC Psychiatry
GA AQ0AX
UT WOS:000342444800009
PM 25200985
ER
PT J
AU Kasari, C
Shire, S
Factor, R
McCracken, C
AF Kasari, Connie
Shire, Stephanie
Factor, Reina
McCracken, Caitlin
TI Psychosocial Treatments for Individuals with Autism Spectrum Disorder
Across the Lifespan: New Developments and Underlying Mechanisms
SO CURRENT PSYCHIATRY REPORTS
LA English
DT Article
DE Autism spectrum disorder; Social skills; Social interventions; Joint
attention/joint engagement; Peer interactions; Social impairment
ID RANDOMIZED CONTROLLED-TRIAL; HIGH-FUNCTIONING AUTISM; ANIMAL-ASSISTED
ACTIVITIES; PIVOTAL RESPONSE TREATMENT; HIGH-SCHOOL-STUDENTS; JOINT
ATTENTION; YOUNG-CHILDREN; SOCIAL-SKILLS; TEACHING-CHILDREN;
SPECIAL-EDUCATION
AB Researchers have studied many interventions to address the core impairment in social interactions in autism spectrum disorder. We reviewed the social skills intervention literature over the past two years (20122014). Social skills intervention studies have increased by 35 % over our previous review of 2010-2012. Nearly equal numbers of studies reported results using single subject research designs (n=29) and group designs (n=25). Consistent with our previous review, many studies focused on joint attention/joint engagement for young children and interventions addressing peer interactions for older children. Advancements in this review period included more replications of intervention models, longitudinal outcomes, and a focus on minimally verbal children. Notably absent are social interventions for adults, and interventions addressing school-based inclusion. In addition to these target areas, future studies should isolate active ingredients of social interventions, include broader participant representation, and further examine the relation between neural development and behavioral outcomes.
C1 [Kasari, Connie; Shire, Stephanie; Factor, Reina; McCracken, Caitlin] UCLA Ctr Autism Res & Treatment, Los Angeles, CA 90024 USA.
RP Kasari, C (reprint author), UCLA Ctr Autism Res & Treatment, 760 Westwood Plaza, Los Angeles, CA 90024 USA.
EM kasari@gseis.ucla.edu; Spatterson@mednet.ucla.edu;
Rfactor@mednet.ucla.edu; Cmccracken@mednet.ucla.edu
FU Maternal and Child Health Research Program, Maternal and Child Health
Bureau (Combating Autism Act Initiative), Health Resources and Services
Administration, Department of Health and Human Services [UA3 MC 11055
AIR-B]
FX This research was supported by grant UA3 MC 11055 AIR-B from the
Maternal and Child Health Research Program, Maternal and Child Health
Bureau (Combating Autism Act Initiative), Health Resources and Services
Administration, Department of Health and Human Services.
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NR 82
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1523-3812
EI 1535-1645
J9 CURR PSYCHIAT REP
JI Curr. Psychiatry Rep.
PD NOV
PY 2014
VL 16
IS 11
AR 512
DI 10.1007/s11920-014-0512-6
PG 12
WC Psychiatry
SC Psychiatry
GA AQ0AX
UT WOS:000342444800019
PM 25248342
ER
PT J
AU Yerys, BE
Herrington, JD
AF Yerys, Benjamin E.
Herrington, John D.
TI Multimodal Imaging in Autism: an Early Review of Comprehensive Neural
Circuit Characterization
SO CURRENT PSYCHIATRY REPORTS
LA English
DT Article
DE Autism spectrum disorder; Multimodal imaging; Connectivity; Graph
theory; Brain
ID VOXEL-BASED MORPHOMETRY; SPECTRUM DISORDERS; WHITE-MATTER; FUNCTIONAL
CONNECTIVITY; EXECUTIVE FUNCTION; SOCIAL-PERCEPTION; BRAIN MECHANISMS;
FRONTAL-CORTEX; SURFACE-AREA; ADOLESCENTS
AB There is accumulating evidence that the neurobiology of autism spectrum disorders (ASD) is linked to atypical neural communication and connectivity. This body of work emphasizes the need to characterize the function of multiple regions that comprise neural circuits rather than focusing on singular regions as contributing to deficits in ASD. Multimodal neuroimaging-the formal combination of multiple functional and structural measures of the brain - is extremely promising as an approach to understanding neural deficits in ASD. This review provides an overview of the multimodal imaging approach, and then provides a snapshot of how multimodal imaging has been applied in the study of ASD to date. This body of work is separated into two categories: one concerning whole brain connectomics and the other focused on characterizing neural circuits implicated as altered in ASD. We end this review by highlighting emerging themes from the existing body of literature, and new resources that will likely influence future multimodal imaging studies.
C1 [Yerys, Benjamin E.; Herrington, John D.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA.
[Yerys, Benjamin E.; Herrington, John D.] Univ Penn, Dept Psychiat, Perelman Sch Med, Philadelphia, PA 19104 USA.
RP Yerys, BE (reprint author), Childrens Hosp Philadelphia, Ctr Autism Res, 3535 Market St,Ste 860, Philadelphia, PA 19104 USA.
EM YerysB@email.chop.edu; HerringtonJ@email.chop.edu
FU National Institutes of Health [K23MH086111, R21MH092615]; Intellectual
and Developmental Disabilities Research Center at the Children's
Hospital of Philadelphia [P30 HD02679]; Philadelphia Foundation; Shire
Pharmaceuticals
FX Benjamin E. Yerys is supported by two grants from the National
Institutes of Health (K23MH086111, R21MH092615) and an internal "New
Program Development Award" from the Intellectual and Developmental
Disabilities Research Center at the Children's Hospital of Philadelphia
(P30 HD02679), and the Philadelphia Foundation. John D. Herrington is
supported by a grant from Shire Pharmaceuticals. We thank Gregory L.
Wallace for feedback on a draft of this manuscript.
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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 1523-3812
EI 1535-1645
J9 CURR PSYCHIAT REP
JI Curr. Psychiatry Rep.
PD NOV
PY 2014
VL 16
IS 11
AR 496
DI 10.1007/s11920-014-0496-2
PG 10
WC Psychiatry
SC Psychiatry
GA AQ0AX
UT WOS:000342444800004
PM 25260934
ER
PT J
AU Altbacker, A
Plozer, E
Darnai, G
Perlaki, G
Orsi, G
Nagy, SA
Lucza, T
Schwarcz, A
Koszegi, T
Kovacs, N
Komoly, S
Janszky, J
Clemens, Z
AF Altbaecker, Anna
Plozer, Enikoe
Darnai, Gergely
Perlaki, Gabor
Orsi, Gergely
Nagy, Szilvia Anett
Lucza, Tivadar
Schwarcz, Attila
Koeszegi, Tamas
Kovacs, Norbert
Komoly, Samuel
Janszky, Jozsef
Clemens, Zsofia
TI Alexithymia is associated with low level of vitamin D in young healthy
adults
SO NUTRITIONAL NEUROSCIENCE
LA English
DT Article
DE Alexithymia; Vitamin D; Hypovitaminosis D; Emotional processing
ID MULTIPLE-SCLEROSIS; D DEFICIENCY; DISORDER; AUTISM; BRAIN; METAANALYSIS;
DEPRESSION; PREDICTS; EPILEPSY; TWINS
AB Objective: Vitamin D plays an important role in brain development and functioning. Low levels of vitamin D have been described in several psychiatric and neurologic conditions including autism spectrum disorder. Alexithymia that shows high comorbidity with autism is also present in the general population as well as hypovitaminosis D.
Methods: Here we assessed the relation between alexithymia as measured by the Toronto Alexithymia Scale-20 and vitamin D level in healthy young adults.
Results: We found an inverse correlation between the levels of alexithymia and vitamin D.
Discussion: These data suggest the association between disturbed emotional processing and low levels of vitamin D to be present in young healthy subjects.
C1 [Altbaecker, Anna; Plozer, Enikoe; Darnai, Gergely; Perlaki, Gabor; Orsi, Gergely; Kovacs, Norbert; Komoly, Samuel; Janszky, Jozsef; Clemens, Zsofia] Univ Pecs, Dept Neurol, H-7623 Pecs, Hungary.
[Perlaki, Gabor; Orsi, Gergely; Nagy, Szilvia Anett] Pecs Diagnost Ctr, Pecs, Hungary.
[Perlaki, Gabor; Orsi, Gergely; Schwarcz, Attila; Janszky, Jozsef] MTA PTE Clin Neurosci MR Res Grp, Pecs, Hungary.
[Lucza, Tivadar] Univ Pecs, Dept Behav Sci, H-7623 Pecs, Hungary.
[Schwarcz, Attila] Univ Pecs, Dept Neurosurg, H-7623 Pecs, Hungary.
[Koeszegi, Tamas] Univ Pecs, Inst Lab Med, H-7623 Pecs, Hungary.
[Clemens, Zsofia] Natl Inst Neurosci, Budapest, Hungary.
RP Altbacker, A (reprint author), Univ Pecs, Dept Neurol, Ret U 2, H-7623 Pecs, Hungary.
EM annaaltbacker@gmail.com
FU [SROP-4.2.1.B-10/2/KONV-2010-0002]; [SROP-4.2.2/A-11/1/KONV-2012-0017];
[PTE AOK-KA-2013/34039]; [OTKA-PD103964]
FX The authors declare that they have no conflict of interest. This work
was supported by Grants SROP-4.2.1.B-10/2/KONV-2010-0002,
SROP-4.2.2/A-11/1/KONV-2012-0017 and PTE AOK-KA-2013/34039. NK was
supported by a grant of OTKA-PD103964.
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NR 51
TC 1
Z9 1
PU MANEY PUBLISHING
PI LEEDS
PA STE 1C, JOSEPHS WELL, HANOVER WALK, LEEDS LS3 1AB, W YORKS, ENGLAND
SN 1028-415X
EI 1476-8305
J9 NUTR NEUROSCI
JI Nutr. Neurosci.
PD NOV
PY 2014
VL 17
IS 6
BP 284
EP 288
DI 10.1179/1476830514Y.0000000114
PG 5
WC Neurosciences; Nutrition & Dietetics
SC Neurosciences & Neurology; Nutrition & Dietetics
GA AQ0XY
UT WOS:000342507200006
PM 24593042
ER
PT J
AU Mahy, CEV
Kliegel, M
Marcovitch, S
AF Mahy, Caitlin E. V.
Kliegel, Matthias
Marcovitch, Stuart
TI Emerging themes in the development of prospective memory during
childhood
SO JOURNAL OF EXPERIMENTAL CHILD PSYCHOLOGY
LA English
DT Editorial Material
ID AUTISM SPECTRUM DISORDER; IMPLEMENTATION INTENTIONS; CHILDREN;
SCHOOLCHILDREN; INTERRUPTION; PERFORMANCE; RETRIEVAL; REMEMBER; DEMANDS;
ADHD
C1 [Mahy, Caitlin E. V.] Univ Oregon, Dept Psychol, Eugene, OR 97403 USA.
[Mahy, Caitlin E. V.; Kliegel, Matthias] Univ Geneva, Dept Psychol, CH-1205 Geneva, Switzerland.
[Marcovitch, Stuart] Univ N Carolina, Dept Psychol, Greensboro, NC 27402 USA.
RP Mahy, CEV (reprint author), Univ Oregon, Dept Psychol, Eugene, OR 97403 USA.
EM cmahy@uoregon.edu
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NR 38
TC 0
Z9 0
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0022-0965
EI 1096-0457
J9 J EXP CHILD PSYCHOL
JI J. Exp. Child Psychol.
PD NOV
PY 2014
VL 127
SI SI
BP 1
EP 7
DI 10.1016/j.jecp.2014.04.003
PG 7
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA AO7SZ
UT WOS:000341554200001
PM 24935461
ER
PT J
AU Causey, KB
Bjorklund, DF
AF Causey, Kayla B.
Bjorklund, David F.
TI Prospective memory in preschool children: Influences of agency,
incentive, and underlying cognitive mechanisms
SO JOURNAL OF EXPERIMENTAL CHILD PSYCHOLOGY
LA English
DT Article
DE Prospective memory; Metacognition; Theory of mind; Executive
functioning; Preschool; Motivation
ID WORKING-MEMORY; RETRIEVAL-PROCESSES; SELF-PROJECTION; TIME; MIND;
FUTURE; PERFORMANCE; SIMULATION; AUTISM; ADULTS
AB Prospective memory (PM) is remembering to perform an action in the future and is crucial to achieving goal-directed activities in everyday life. Doing so requires that an intention is encoded, retained during a delay interval, and retrieved at the appropriate time of execution. We examined PM ability in preschool children by manipulating factors related to agency and incentive. We further explored how metacognition, executive functioning, and theory of mind factors known to account for individual differences in PM influenced performance on these PM tasks. A sample of 31 preschool children were asked to carry out a delayed intention or to remind an adult to carry out an intention that was of high or low incentive to the children. Findings indicated that individual differences in theory of mind were related to individual differences in preschoolers' performance on low-incentive PM tasks, independent of executive functioning contributions, whereas individual differences in executive functioning were related to performance on the high-incentive tasks. These findings suggest that changes in theory of mind and executive functioning are important to consider in models of PM and that different PM tasks (e.g., high vs. low incentive) may involve different cognitive requirements for young children. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Causey, Kayla B.; Bjorklund, David F.] Florida Atlantic Univ, Dept Psychol, Boca Raton, FL 33431 USA.
RP Causey, KB (reprint author), Calif State Univ Fullerton, Dept Psychol, Fullerton, CA 92834 USA.
EM kcausey@fullerton.edu
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NR 71
TC 2
Z9 2
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0022-0965
EI 1096-0457
J9 J EXP CHILD PSYCHOL
JI J. Exp. Child Psychol.
PD NOV
PY 2014
VL 127
SI SI
BP 36
EP 51
DI 10.1016/j.jecp.2014.01.020
PG 16
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA AO7SZ
UT WOS:000341554200004
PM 24813540
ER
PT J
AU Henry, JD
Terrett, G
Altgassen, M
Raponi-Saunders, S
Ballhausen, N
Schnitzspahn, KM
Rendell, PG
AF Henry, Julie D.
Terrett, Gill
Altgassen, Mareike
Raponi-Saunders, Sandra
Ballhausen, Nicola
Schnitzspahn, Katharina M.
Rendell, Peter G.
TI A Virtual Week study of prospective memory function in autism spectrum
disorders
SO JOURNAL OF EXPERIMENTAL CHILD PSYCHOLOGY
LA English
DT Article
DE Autism; Prospective memory; Functional capacity; Executive control
ID EXECUTIVE DYSFUNCTION; TASK DEMANDS; PERFORMANCE; AGE; CHILDREN;
PRESCHOOLERS; RETRIEVAL; INTENTION; SYMPTOMS; BEHAVIOR
AB Prospective memory (PM) refers to the implementation of delayed intentions, a cognitive ability that plays a critical role in daily life because of its involvement in goal-directed behavior and consequently the development and maintenance of independence. Emerging evidence indicates that PM may be disrupted in autism spectrum disorders (ASDs), potentially contributing to the functional difficulties that characterize this group. However, the degree, nature, and specificity of ASD-related impairment remains poorly understood. In the current study, children between 8 and 12 years of age who were diagnosed with ASDs (n = 30) were compared with typically developing children (n = 30) on a child-appropriate version of the Virtual Week board game. This measure provides an opportunity to investigate the different sorts of PM failures that occur. The ASD group showed significant PM impairment on measures of time-based (but not event-based) prospective remembering. However, only a subtle difference emerged between regular and irregular PM tasks, and group differences were consistent across these tasks. Because regular and irregular tasks differentially load retrospective memory, these data imply that the PM difficulties seen in ASDs may primarily reflect a monitoring deficit and not an encoding and memory storage deficit. PM performance was poorer under conditions of high ongoing task absorption, but the magnitude of this effect did not vary as a function of group. In both groups, time-based (but not event-based) PM difficulties were associated with functional outcomes in daily life, but only an inconsistent association with executive control emerged. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Henry, Julie D.] Univ Queensland, Sch Psychol, St Lucia, Qld 4072, Australia.
[Terrett, Gill; Raponi-Saunders, Sandra; Rendell, Peter G.] Australian Catholic Univ, Sch Psychol, Fitzroy, Vic 3065, Australia.
[Altgassen, Mareike] Radboud Univ Nijmegen, Ctr Cognit, Donders Inst Brain Cognit & Behav, NL-6525 EN Nijmegen, Netherlands.
[Altgassen, Mareike] Tech Univ Dresden, Dept Psychol, D-01062 Dresden, Germany.
[Ballhausen, Nicola; Schnitzspahn, Katharina M.] Univ Geneva, Dept Psychol, CH-1211 Geneva, Switzerland.
RP Henry, JD (reprint author), Univ Queensland, Sch Psychol, St Lucia, Qld 4072, Australia.
EM julie.henry@uq.edu.au; gill.terrett@acu.edu.au
RI Altgassen, Mareike/J-3048-2012
CR Altgassen M, 2012, J AUTISM DEV DISORD, V42, P2141, DOI 10.1007/s10803-012-1466-3
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WILLIAMS D, 2013, CHEM IND LONDON, V77, P43
NR 49
TC 1
Z9 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0022-0965
EI 1096-0457
J9 J EXP CHILD PSYCHOL
JI J. Exp. Child Psychol.
PD NOV
PY 2014
VL 127
SI SI
BP 110
EP 125
DI 10.1016/j.jecp.2014.01.011
PG 16
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA AO7SZ
UT WOS:000341554200009
PM 24679459
ER
PT J
AU Simo-Pinatella, D
Font-Roura, J
Alomar-Kurz, E
Gine, C
Matson, JL
AF Simo-Pinatella, David
Font-Roura, Josep
Alomar-Kurz, Elisabeth
Gine, Climent
Matson, Johnny L.
TI Functional variables of challenging behavior in individuals with
intellectual disabilities
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Challenging behavior; Behavioral function; QABF; Intellectual
disabilities
ID FUNCTION-BASED INTERVENTION; AUTISM SPECTRUM DISORDER; FUNCTION QABF
SCALE; AGGRESSIVE-BEHAVIOR; MENTAL-RETARDATION; SELF-INJURY;
DEVELOPMENTAL-DISABILITIES; PSYCHOMETRIC PROPERTIES; PRESESSION
ATTENTION; CONVERGENT VALIDITY
AB Research suggests that different types of challenging behavior (CB) may be maintained by different contingencies of reinforcement. In this study, we examined functional variables for nine types of CB (physical aggression, verbal aggression, self-injury, tantrums, noncompliance, property destruction, disruptive behavior, stereotypes and inappropriate verbal behavior) in 300 people with intellectual disabilities. The Questions About Behavioral Function (QABF) instrument was administered to 183 direct care staff members to assess a total of 328 challenging behaviors. Results of non-parametric analyses distinguished significant differences across behavioral functions. CBs associated with each subscale of the QABF were identified. Results were consistent with previous research, stereotypic behavior was scored significantly higher across the non-social functions measured by the QABF, whereas other types of CB (such as aggressive behavior) were scored significantly higher across social functions. The results of this study extend the literature on this issue, and implications for future research and direct care professionals are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Simo-Pinatella, David; Alomar-Kurz, Elisabeth; Gine, Climent] Ramon Llull Univ, Barcelona 08022, Spain.
[Font-Roura, Josep] CPT Estel, Vic 08500, Spain.
[Matson, Johnny L.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Simo-Pinatella, D (reprint author), Ramon Llull Univ, C Cister 34, Barcelona 08022, Spain.
EM davidsp@blanquerna.url.edu; j.font@santtomas.cat;
ElisabethAK@blanquerna.url.edu; ClimentGG@blanquerna.url.edu;
JohnMatson@aol.com
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NR 70
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 NOV
PY 2014
VL 35
IS 11
BP 2635
EP 2643
DI 10.1016/j.ridd.2014.06.026
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300004
PM 25041877
ER
PT J
AU Benjamin, DP
Mastergeorge, AM
McDuffie, AS
Kover, ST
Hagerman, RJ
Abbeduto, L
AF Benjamin, David P.
Mastergeorge, Ann M.
McDuffie, Andrea S.
Kover, Sara T.
Hagerman, Randi J.
Abbeduto, Leonard
TI Effects of labeling and pointing on object gaze in boys with fragile X
syndrome: An eye-tracking study
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Fragile X syndrome; Autism; Eye tracking; Word learning
ID AUTISM SPECTRUM DISORDER; WITHIN-SYNDROME DIFFERENCES; JOINT
VISUAL-ATTENTION; YOUNG-CHILDREN; LANGUAGE-DEVELOPMENT; DEVELOPMENTAL
TRAJECTORIES; BEHAVIORAL-PHENOTYPE; PRESCHOOL-CHILDREN; SOCIAL SCENES;
INFANTS
AB We examined the visual processing of a social learning stimulus and the ways in which visual attention was distributed to objects as well as to the examiner's face during word learning under conditions that varied only in the presence or absence of a label. The goal of the current study, then, was to evaluate the effects of differentially providing pointing and labeling during exposure to a novel target object in males with fragile X syndrome (FXS) (n = 14, ages 4.33-10.02), autism spectrum disorder (ASD) (n = 17, ages 4.04-10.4), or typical development (TD) (n = 18, ages 2.05-5.33). In particular, the present study examined attention to the examiner's face as well as target and distracter objects that were presented as video stimuli. An eye-tracker captured gaze to the video stimuli as they were shown in order to examine the way in which children with FXS, ASD, or TD distributed their gaze toward the examiner and the objects. Results indicated that no group showed increased gaze toward the target object compared to the distracter object. However, results revealed that participants with FXS showed significantly increased face gaze compared to the novel objects, whereas children with ASD and TD both showed similar amounts of relative gaze toward the face and objects. Furthermore, the act of pointing at the target object was found to increase gaze toward the target objects compared to when there was no pointing in all groups. Together, these findings suggest that social cues like those employed in a word-learning task, when presented with video, may relate to gaze in FXS in context- or task-dependent ways that are distinct from those expected during live interaction. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Benjamin, David P.; McDuffie, Andrea S.; Hagerman, Randi J.; Abbeduto, Leonard] Univ Calif Davis, MIND Inst, Davis, CA 95616 USA.
[Benjamin, David P.; McDuffie, Andrea S.; Abbeduto, Leonard] Univ Calif Davis, Sch Med, Dept Psychiat & Behav Sci, Davis, CA USA.
[Mastergeorge, Ann M.] Univ Arizona, Div Family Studies & Human Dev, Tucson, AZ 85721 USA.
[Kover, Sara T.] Univ Washington, Seattle, WA 98195 USA.
[Hagerman, Randi J.] Univ Calif Davis, Sch Med, Dept Pediat, Sacramento, CA 95817 USA.
RP Benjamin, DP (reprint author), Univ Calif Davis, MIND Inst, Davis, CA 95616 USA.
EM dpbenjamin@ucdavis.edu; amastergeorge@u.arizona.edu;
andrea.mcduffie@ucdmc.ucdavis.edu; skover@uw.edu;
randi.hagerman@ucdmc.ucdavis.edu; leonard.abbeduto@ucdmc.ucdavis.edu
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NR 88
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 NOV
PY 2014
VL 35
IS 11
BP 2658
EP 2672
DI 10.1016/j.ridd.2014.06.021
PG 15
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300007
PM 25062097
ER
PT J
AU Hustyi, KM
Hall, SS
Jo, B
Lightbody, AA
Reiss, AL
AF Hustyi, Kristin M.
Hall, Scott S.
Jo, Booil
Lightbody, Amy A.
Reiss, Allan L.
TI Longitudinal trajectories of aberrant behavior in fragile X syndrome
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Fragile X syndrome; Aberrant behavior; Longitudinal data; Adaptive
behavior
ID AUTISM SPECTRUM DISORDER; SELF-INJURIOUS-BEHAVIOR; MENTAL-RETARDATION;
YOUNG BOYS; INTELLECTUAL DISABILITIES; MALADAPTIVE BEHAVIORS; GENETIC
SYNDROMES; CHILDREN; CHECKLIST; MALES
AB The Aberrant Behavior Checklist-Community. (ABC-C; Aman et al., 1995) has been increasingly adopted as a primary tool for measuring behavioral change in clinical trials for individuals with fragile X syndrome (FXS). To our knowledge, however, no study has documented the longitudinal trajectory of aberrant behaviors in individuals with FXS using the ABC-C. As part of a larger longitudinal study, we examined scores obtained on the ABC-C subscales for 124 children and adolescents (64 males, 60 females) with FXS who had two or more assessments (average interval between assessments was approximately 4 years). Concomitant changes in age-equivalent scores on the Vineland Adaptive Behavior Scales (VABS) were also examined. As expected for an X-linked genetic disorder, males with FXS obtained significantly higher scores on all subscales of the ABC-C and significantly lower age-equivalent scores on the VABS than females with FXS. In both males and females with FXS, scores on the Irritability/Agitation and Hyperactivity/Noncompliance subscales of the ABC-C decreased significantly with age, with little to no change occurring over time on the Lethargy/Social Withdrawal, Stereotypic Behavior, and Inappropriate Speech subscales. The decrease in scores on the Hyperactivity/Noncompliance domain was significantly greater for males than for females. In both males and females, age-equivalent scores on the VABS increased significantly over this developmental period. These results establish a basis upon which to evaluate long-term outcomes from intervention-based research. However, longitudinal direct observational studies are needed to establish whether the severity of problem behavior actually decreases over time in this population. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Hustyi, Kristin M.; Hall, Scott S.; Jo, Booil; Lightbody, Amy A.; Reiss, Allan L.] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Ctr Interdisciplinary Brain Sci Res, Stanford, CA 94305 USA.
[Reiss, Allan L.] Stanford Univ, Sch Med, Dept Radiol, Stanford, CA 94305 USA.
[Reiss, Allan L.] Stanford Univ, Sch Med, Dept Pediat, Stanford, CA 94305 USA.
RP Hustyi, KM (reprint author), Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Ctr Interdisciplinary Brain Sci Res, 401 Quarry Rd, Stanford, CA 94305 USA.
EM khustyi@stanford.edu; hallss@stanford.edu; booil@stanford.edu;
aal@stanford.edu; areiss1@stanford.edu
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NR 49
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 NOV
PY 2014
VL 35
IS 11
BP 2691
EP 2701
DI 10.1016/j.ridd.2014.07.003
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300010
PM 25129200
ER
PT J
AU Titeca, D
Roeyers, H
Josephy, H
Ceulemans, A
Desoete, A
AF Titeca, Daisy
Roeyers, Herbert
Josephy, Haeike
Ceulemans, Annelies
Desoete, Annemie
TI Preschool predictors of mathematics in first grade children with autism
spectrum disorder
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism spectrum disorder; Early numerical competencies; First grade
mathematics
ID HIGH-FUNCTIONING AUTISM; BASIC NUMERICAL CAPACITIES; NUMBER SENSE;
INDIVIDUAL-DIFFERENCES; YOUNG-CHILDREN; DEVELOPMENTAL DYSCALCULIA;
LEARNING-DIFFICULTIES; COGNITIVE PREDICTORS; ASPERGER SYNDROME;
WORKING-MEMORY
AB Up till now, research evidence on the mathematical abilities of children with autism spectrum disorder (ASD) has been scarce and provided mixed results. The current study examined the predictive value of five early numerical competencies for four domains of mathematics in first grade. Thirty-three high-functioning children with ASD were followed up from preschool to first grade and compared with 54 typically developing children, as well as with normed samples in first grade. Five early numerical competencies were tested in preschool (5-6 years): verbal subitizing, counting, magnitude comparison, estimation, and arithmetic operations. Four domains of mathematics were used as outcome variables in first grade (6-7 years): procedural calculation, number fact retrieval, word/language problems, and time-related competences. Children with ASD showed similar early numerical competencies at preschool age as typically developing children. Moreover, they scored average on number fact retrieval and time-related competences and higher on procedural calculation and word/language problems compared to the normed population in first grade. When predicting first grade mathematics performance in children with ASD, both verbal subitizing and counting seemed to be important to evaluate at preschool age. Verbal subitizing had a higher predictive value in children with ASD than in typically developing children. Whereas verbal subitizing was predictive for procedural calculation, number fact retrieval, and word/language problems, counting was predictive for procedural calculation and, to a lesser extent, number fact retrieval. Implications and directions for future research are discussed. (C) 2014 The Authors. Published by Elsevier Ltd.
C1 [Titeca, Daisy; Roeyers, Herbert; Ceulemans, Annelies; Desoete, Annemie] Univ Ghent, Dept Expt Clin & Hlth Psychol, B-9000 Ghent, Belgium.
[Josephy, Haeike] Univ Ghent, Dept Data Anal, B-9000 Ghent, Belgium.
[Desoete, Annemie] Artevelde Univ Coll, Dept Speech Therapists, Ghent, Belgium.
RP Titeca, D (reprint author), Univ Ghent, Dept Expt Clin & Hlth Psychol, Henri Dunantlaan 2, B-9000 Ghent, Belgium.
EM Daisy.Titeca@UGent.be; Herbert.Roeyers@UGent.be;
Haeike.Josephy@UGent.be; Annelies.Ceulemans@UGent.be;
Annemie.Desoete@UGent.be
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NR 106
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 NOV
PY 2014
VL 35
IS 11
BP 2714
EP 2727
DI 10.1016/j.ridd.2014.07.012
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300012
PM 25068926
ER
PT J
AU Richling, SM
Rapp, JT
Funk, JA
D'Agostini, J
Garrido, N
Moreno, V
AF Richling, Sarah M.
Rapp, John T.
Funk, Janie A.
D'Agostini, Jaimie
Garrido, Natalia
Moreno, Vicki
TI Low publication rate of 2005 conference presentations: Implications for
practitioners serving individuals with autism and intellectual
disabilities
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Association for Behavior Analysis International; Conference
presentations; Continuing education; Publications
ID ANNUAL SCIENTIFIC CONFERENCE; AMERICAN-COLLEGE; ASSOCIATION; ABSTRACTS;
MEETINGS; FOOT
AB This study determined the percentage of presentations at the annual conference of the Association for Behavior Analysis in 2005 with the autism (AUT) and developmental disabilities (DDA) codes (N = 880) that (a) provided continuing education credits (CEs) for Board Certified Behavior Analysts (BCBAs) and Board Certified Assistant Behavior Analysts (BCaBAs) and (b) included content that was published in a peer-reviewed outlet. Results indicate that only 77 (8.8%) presentations were ultimately published. Although posters were not eligible for CEs, posters accounted for 57.1% of the published presentations. Specifically, posters presented by a university-affiliated presenter accounted for 44.2% of presentations with published content. As a whole, only 10.4% of AUT and DDA presentations offering CEs contained data sets that were published. Considered together, these results suggest that the content provided to BCBAs and BCaBAs for CEs may not be adequately measured or sufficiently rigorous to guide clinical practices. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Richling, Sarah M.; Funk, Janie A.; D'Agostini, Jaimie; Garrido, Natalia; Moreno, Vicki] Univ Nevada Renoc, Reno, NV USA.
[Rapp, John T.] Auburn Univ, Auburn, AL 36849 USA.
RP Rapp, JT (reprint author), Auburn Univ, Dept Psychol, 226 Thach, Auburn, AL 36849 USA.
EM jtr0014@auburn.edu
CR Abicht BP, 2012, J FOOT ANKLE SURG, V51, P45, DOI 10.1053/j.jfas.2011.05.009
American Psychological Association, 2013, AM PSYCHOL, V68, P381
Association for Behavior Analysis International, 2013, CHIC 40 ANN CONV CAL
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Tyagi Asha, 2013, J Anaesthesiol Clin Pharmacol, V29, P216, DOI 10.4103/0970-9185.111727
NR 12
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 NOV
PY 2014
VL 35
IS 11
BP 2744
EP 2750
DI 10.1016/j.ridd.2014.07.023
PG 7
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300015
PM 25077833
ER
PT J
AU Ranjbar, A
Rashedi, V
Rezaei, M
AF Ranjbar, Akram
Rashedi, Vahid
Rezaei, Mohammad
TI Comparison of urinary oxidative biomarkers in Iranian children with
autism
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autistic disorder; Oxidative stress; Total antioxidant capacity
ID GLUTATHIONE REDOX STATUS; SONIC HEDGEHOG PROTEIN; STRESS; BRAIN;
ANTIOXIDANT; MITOCHONDRIA; DISORDERS; APOPTOSIS; PROPOFOL; DAMAGE
AB Autism is a complex neurodevelopmental disorder usually presents in early childhood and thought to be influenced by genetic and environmental factors. Individuals with autism vary widely in abilities, intelligence, and behaviors. It is common for children with autism to exhibit eating disorders and some have preferences for soft and sweetened food making them susceptible to caries. Furthermore, a wide spectrum of medical and behavioral symptoms exhibited by children with autism makes routine dental care very difficult. Intellectual disability is evident in approximately 70% of individuals with autism and most psychiatric disorders, including autism, are associated with increased oxidative stress. 29 subjects diagnosed with autism, in the age group of 6 to 12 years, were a part of the study. Furturemore, 24 normal healthy siblings of same age group were taken as the control group.
The present study aimed to evaluate oxidative stress biomarkers such as urinary total antioxidant concentration (TAC), catalase activity (CAT) and total thiol molecules (TTM). The results showed the autism group have significantly higher CAT activity and concomitant lower TAC and TTM concentration in comparison with control group. The results are discussed in relation to an increased vulnerability to oxidative damage, which may contribute to the development and clinical manifestation of symptoms of autism. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Ranjbar, Akram] Hamadan Univ Med Sci, Dept Toxicol & Pharmacol, Sch Pharm, Hamadan, Iran.
[Rashedi, Vahid] Univ Social Welf & Rehabil Sci, Iranian Res Ctr Aging, Tehran, Iran.
[Rezaei, Mohammad] Hamadan Univ Med Sci & Hlth Serv, Fac Rehabil Sci, Hamadan, Iran.
RP Rezaei, M (reprint author), Hamadan Univ Med Sci & Hlth Serv, Fac Rehabil Sci, Hamadan, Iran.
EM m_r_st@yahoo.com
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NR 31
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 NOV
PY 2014
VL 35
IS 11
BP 2751
EP 2755
DI 10.1016/j.ridd.2014.07.010
PG 5
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300016
PM 25086736
ER
PT J
AU Murphy, SM
Faulkner, DM
Reynolds, LR
AF Murphy, Suzanne M.
Faulkner, Dorothy M.
Reynolds, Laura R.
TI A randomised controlled trial of a computerised intervention for
children with social communication difficulties to support peer
collaboration
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Randomised controlled trial; Social communication; Pragmatic language;
Intervention; Peer relations; Peer collaboration
ID AUTISM SPECTRUM DISORDER; HIGH-FUNCTIONING AUTISM; SCHOOL-AGE-CHILDREN;
LANGUAGE IMPAIRMENT; PRAGMATIC LANGUAGE; PERSPECTIVE-TAKING; WORK;
TECHNOLOGIES; ASSOCIATIONS; THERAPY
AB An intervention aiming to support children with social communication difficulties was tested using a randomised controlled design. Children aged 5-6 years old (n = 32) were tested and selected for participation on the basis of their scores on the Test of Pragmatic Skills (TPS) and were then randomly assigned to the intervention arm or to the delayed intervention control group. Following previous research which suggested that computer technology may be particularly useful for this group of children, the intervention included a collaborative computer game which the children played with an adult. Subsequently, children's performance as they played the game with a classmate was observed. Micro-analytic observational methods were used to analyse the audio-recorded interaction of the children as they played. Pre- and post-intervention measures comprised the Test of Pragmatic Skills, children's performance on the computer game and verbal communication measures that the children used during the game.
This evaluation of the intervention shows promise. At post-test, the children who had received the intervention, by comparison to the control group who had not, showed significant gains in their scores on the Test of Pragmatic Skills (p = .009, effect size r = -.42), a significant improvement in their performance on the computer game (p = .03, r = -.32) and significantly greater use of high-quality questioning during collaboration (p < .001, r = -.60). Furthermore, the children who received the intervention made significantly more positive statements about the game and about their partners (p = .02, r = -.34) suggesting that the intervention increased their confidence and enjoyment. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Murphy, Suzanne M.] Univ Bedfordshire, Inst Hlth Res, Luton LU2 8LE, Beds, England.
[Faulkner, Dorothy M.] Open Univ, Fac Educ & Language Studies, Milton Keynes MK7 6AA, Bucks, England.
[Reynolds, Laura R.] Beech Close Resource Ctr, Child Mental Hlth Serv, Dunstable LU6 3SD, Beds, England.
[Reynolds, Laura R.] Beech Close Resource Ctr, Adolescent Mental Hlth Serv, Dunstable LU6 3SD, Beds, England.
RP Murphy, SM (reprint author), Univ Bedfordshire, Inst Hlth Res, Hitchin Rd, Luton LU2 8LE, Beds, England.
EM suzanne.murphy@beds.ac.uk
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NR 57
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 NOV
PY 2014
VL 35
IS 11
BP 2821
EP 2839
DI 10.1016/j.ridd.2014.07.026
PG 19
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300024
PM 25104223
ER
PT J
AU Sullivan, K
Stone, WL
Dawson, G
AF Sullivan, Katherine
Stone, Wendy L.
Dawson, Geraldine
TI Potential neural mechanisms underlying the effectiveness of early
intervention for children with autism spectrum disorder
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Review
DE Autism spectrum disorder; Early intervention; Neural mechanisms
ID EARLY BEHAVIORAL INTERVENTION; RANDOMIZED CONTROLLED-TRIAL; FUSIFORM
FACE AREA; START DENVER MODEL; YOUNG-CHILDREN; JOINT ATTENTION; FACIAL
EXPRESSIONS; COMMUNICATION DEVELOPMENT; COGNITIVE NEUROSCIENCE; ATYPICAL
DEVELOPMENT
AB Although evidence supports the efficacy of early intervention for improving outcomes for children with autism spectrum disorder (ASD), the mechanisms underlying their effectiveness remain poorly understood. This paper reviews the research literature on the neural bases of the early core deficits in ASD and proposes three key features of early intervention related to the neural mechanisms that may contribute to its effectiveness in improving deficit areas. These features include (1) the early onset of intensive intervention which capitalizes on the experience-expectant plasticity of the immature brain, (2) the use of treatment strategies that address core deficits in social motivation through an emphasis on positive social engagement and arousal modulation, and (3) promotion of complex neural networks and connectivity through thematic, multi-sensory and multi-domain teaching approaches. Understanding the mechanisms of effective early intervention will enable us to identify common or foundational active ingredients for promoting optimal outcomes in children with ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Sullivan, Katherine; Stone, Wendy L.] Univ Washington, Dept Psychol, Seattle, WA 98195 USA.
[Dawson, Geraldine] Duke Univ, Dept Psychiat & Behav Sci, Durham, NC 27708 USA.
[Dawson, Geraldine] Duke Univ, Duke Inst Brain Sci, Durham, NC 27708 USA.
RP Sullivan, K (reprint author), Clark St,Apt BR, Brooklyn, NY 11201 USA.
EM kstamper@uw.edu; stonew@uw.edu; geraldine.dawson@duke.edu
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NR 130
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 NOV
PY 2014
VL 35
IS 11
BP 2921
EP 2932
DI 10.1016/j.ridd.2014.07.027
PG 12
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300031
PM 25108609
ER
PT J
AU Shapiro, CJ
Kilburn, J
Hardin, JW
AF Shapiro, Cheri J.
Kilburn, Janice
Hardin, James W.
TI Prevention of behavior problems in a selected population: Stepping
Stones Triple P for parents of young children with disabilities
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Children; Disabilities; Parenting; Evidence-based parenting
intervention; Randomized design; Home-based intervention
ID RANDOMIZED CONTROLLED-TRIAL; WORKING ALLIANCE INVENTORY; AUTISM SPECTRUM
DISORDER; EARLY HEAD-START; DEVELOPMENTAL-DISABILITIES; CHALLENGING
BEHAVIOR; DISRUPTIVE BEHAVIOR; INTERACTION THERAPY; INTELLECTUAL
DISABILITY; 3-YEAR-OLD CHILDREN
AB Because young children with disabilities are at elevated risk for development of challenging behaviors, and caregivers of these children typically lack access to evidence-based parenting interventions, two randomized trials were conducted to examine the impact of an evidence-based parenting intervention, Stepping Stones Triple P (SSTP), as a selective preventive intervention. Both studies targeted parents of children under two with a variety of disabilities who were enrolled in the IDEA Part C Early Intervention (El) system in one state. SSTP was delivered in family homes. In Study One, 49 families were randomly assigned to El services as usual, with or without SSTP; a 52% attrition rate from treatment was seen. No significant between-group differences were seen aside from a trend toward reduced symptoms of parental depression at follow-up. Intervention group children demonstrated significant decline in behavior problems from post treatment to follow-up, and there was a trend toward improved parenting style in the intervention group during this same time frame. Study Two incorporated a separate workforce intervention for El service coordinators; 40 families on their caseloads were then randomly assigned to receive El services as usual with or without SSTP. Attrition from treatment was limited to 20%. No differential impact was seen on child behavior; a trend was noted post-treatment on parent symptoms of depression and on the observed parent-child relationship. At 12-month follow-up, there was a trend favoring improvement in the intervention group in parenting style; statistically significant impact was also seen on the observed quality of the parent-child relationship. SSTP shows promise as a selective preventive intervention for an early intervention population. Reasons for the differential findings between the two studies are explored and suggestions for future research are provided. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Shapiro, Cheri J.; Hardin, James W.] Univ S Carolina, Columbia, SC 29208 USA.
[Kilburn, Janice] South Carolina First Steps Sch Readiness, Columbia, SC USA.
RP Shapiro, CJ (reprint author), Univ S Carolina, Inst Families Soc, 1600 Hampton St,Fifth Floor, Columbia, SC 29208 USA.
EM cshapiro@mailbox.sc.edu
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NR 78
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD NOV
PY 2014
VL 35
IS 11
BP 2958
EP 2975
DI 10.1016/j.ridd.2014.07.036
PG 18
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300035
PM 25124695
ER
PT J
AU Stasolla, F
Damiani, R
Perilli, V
Di Leone, A
Albano, V
Stella, A
Damato, C
AF Stasolla, Fabrizio
Damiani, Rita
Perilli, Viviana
Di Leone, Antonia
Albano, Vincenza
Stella, Anna
Damato, Concetta
TI Technological supports to promote choice opportunities by two children
with fragile X syndrome and severe to profound developmental
disabilities
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Fragile X syndrome; Rehabilitative intervention; Stereotypies; Quality
of life; Choice opportunities; Assistive technology
ID AUTISM SPECTRUM DISORDERS; SCANNING KEYBOARD EMULATOR; MICROSWITCH-BASED
PROGRAMS; QUALITY-OF-LIFE; INTELLECTUAL DISABILITIES; MULTIPLE
DISABILITIES; MOTOR DISABILITIES; ASSISTIVE TECHNOLOGY; BEHAVIOR; BOYS
AB This study was aimed at assessing whether technological supports (i.e. optic sensors such as photocells) were successful enabling two boys with fragile X syndrome and severe to profound developmental disabilities to perform occupation and choice opportunities. A second goal of the study was to reduce stereotyped behaviours (i.e. hand mouthing and eye poking) exhibited by the participants. Finally, the third purpose of the study was to verify the rehabilitative effects of the intervention program on the indices of happiness of the participants. The study has been conducted according to a non-concurrent multiple baseline design across participants followed by intervention and cross over phases, where the associations between behavioural responses and environmental consequences were systematically inverted. Moreover, a maintenance phase was assessed. The results demonstrated that the technology is useful to facilitate employment and opportunities of choice, showing a growth of the indices of happiness and a decrease of stereotyped behaviours, from both participants involved. Clinical, practical and psychological implications of the findings are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Stasolla, Fabrizio] Lega del Filo dOro Res Ctr, Molfetta, Italy.
[Damiani, Rita; Di Leone, Antonia; Albano, Vincenza; Stella, Anna; Damato, Concetta] Univ Bari, Dept Educ Sci, I-70121 Bari, Italy.
[Perilli, Viviana] Res Ctr, Lesmo, Italy.
RP Stasolla, F (reprint author), Lega del Filo dOro Res Ctr, Molfetta, Italy.
EM f.stasolla@psico.uniba.it
CR Arron K, 2011, J INTELL DISABIL RES, V55, P109, DOI 10.1111/j.1365-2788.2010.01337.x
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Stasolla F., NEURO REHAB IN PRESS
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NR 43
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 NOV
PY 2014
VL 35
IS 11
BP 2993
EP 3000
DI 10.1016/j.ridd.2014.07.045
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300038
PM 25118066
ER
PT J
AU Lee, RLT
Lee, PH
AF Lee, Regina L. T.
Lee, Paul H.
TI To evaluate the effects of a simplified hand washing improvement program
in schoolchildren with mild intellectual disability: A pilot study
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Schoolchildren with mild intellectual disability; Simplified hand
hygiene program; Effectiveness; Multisensory stimulation
ID TEACH PERSPECTIVE-TAKING; CHILDREN; AUTISM; HYGIENE; INDIVIDUALS;
SKILLS; INTERVENTIONS; INFECTIONS; COMMUNITY; STUDENTS
AB A quasi-experimental study using a pretest-posttest design with a control group was used to evaluate the effects of a simplified 5-step multimedia visualization hand hygiene improvement program by schoolchildren with mild intellectual disability (MID). A total of twenty schoolchildren aged 6-12 years old with MID (12 males) were recruited and they were assigned into intervention (n = 10) and control (n = 10) groups. To evaluate the quality of their hand washing, Glow gel, which contains plastic simulated germs that are visible under an ultra-violet lamp, was applied to participants' hands to assess the quality of hand washing by comparing the amount of visible Glow gel before and after hand washing using a 4-point scale. Four raters used this 4-point scale to assess the quality of hand washing through digital photo images of the participants' hands. A total of eight digital photos per participant were taken. A fifteen-minute hand washing training session was conducted every school day for 4 weeks for the intervention group. Those in the control group received no training. A multimedia visual package on steps of hand washing was presented together with a reward system, whereby a number of stars were earned each week depending on the quality of hand washing. Results showed encouraging findings, as the schoolchildren in the intervention group showed significant improvement in hand washing (p < 0.001) and the improvement was stronger than that of the control group (p = 0.02). To conclude, a systematic instruction emphasizing multimedia visualization in a hand washing improvement program can be successfully implemented in a special school, and the effect of integrating multimedia visuals in the hand hygiene program could improve hand hygiene among schoolchildren with MID. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Lee, Regina L. T.] Hong Kong Polytech Univ, Sch Nursing, Collaborating Ctr, World Hlth Org, Kowloon, Hong Kong, Peoples R China.
[Lee, Paul H.] Hong Kong Polytech Univ, Sch Nursing, Kowloon, Hong Kong, Peoples R China.
RP Lee, RLT (reprint author), Hong Kong Polytech Univ, Sch Nursing, Collaborating Ctr, World Hlth Org, Kowloon, Hong Kong, Peoples R China.
EM Regina.Lee@polyu.edu.hk
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NR 36
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD NOV
PY 2014
VL 35
IS 11
BP 3014
EP 3025
DI 10.1016/j.ridd.2014.07.016
PG 12
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300040
PM 25124699
ER
PT J
AU Lovell, B
Elliot, H
Liu, CCS
Wetherell, MA
AF Lovell, Brian
Elliot, Helen
Liu, Chris Che Sung
Wetherell, Mark A.
TI Memory failures for everyday tasks in caregivers of children with autism
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Caregiving; Cognition; Everyday memory; Perceived stress
ID INFORMAL CAREGIVERS; COGNITIVE FUNCTION; BEHAVIOR PROBLEMS; STRESS;
DISABILITIES; RESPONSES; SMOKING; PARENTS; DECLINE
AB The stress of caring for a loved one with chronic illness has been linked with impairments in cognitive processes such as attention and problem solving, though few studies have examined the impact on memory. Compromised cognition, in particular, aspects of everyday functioning such as remembering medical instructions and appointments, might affect caregivers' ability to maintain the Consistency and quality of care needed by the child. A sample of 31 caregivers of children with autism and 51 parents of neuro-typical children completed an electronic survey assessing their levels of psychological distress and everyday memory. Perceived stress scores were higher in the caregiver group, as were self-reported memory failures for everyday tasks. The negative impact of caregiver stress on everyday memory was particularly salient among caregivers experiencing higher perceived levels of stress. These findings have implications for interventions that aim to improve caregivers' cognitive well being through targeting the psychological sequelae associated with the caregiving experience. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Lovell, Brian; Elliot, Helen; Liu, Chris Che Sung; Wetherell, Mark A.] Northumbria Univ, Dept Psychol, Stress Res Grp, Newcastle Upon Tyne NE1 8ST, Tyne & Wear, England.
RP Lovell, B (reprint author), Northumbria Univ, Dept Psychol, Newcastle Upon Tyne NE1 8ST, Tyne & Wear, England.
EM brian.lovell@northumbria.ac.uk
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NR 30
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD NOV
PY 2014
VL 35
IS 11
BP 3057
EP 3061
DI 10.1016/j.ridd.2014.07.019
PG 5
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300044
PM 25128790
ER
PT J
AU Kretschmer, A
Altgassen, M
Rendell, PG
Bolte, S
AF Kretschmer, Anett
Altgassen, Mareike
Rendell, Peter G.
Bolte, Sven
TI Prospective memory in adults with high-functioning autism spectrum
disorders: Exploring effects of implementation intentions and
retrospective memory load
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Asperger syndrome; Executive function; Memory for intentions;
Implementation intentions; Cognition; Planning abilities; Retrospective
memory load
ID TRAUMATIC BRAIN-INJURY; VIRTUAL WEEK; EXECUTIVE FUNCTION;
ASPERGERS-SYNDROME; EMOTIONAL VALENCE; OLDER-ADULTS; FREE-RECALL;
PERFORMANCE; DEFICITS; CHILDREN
AB This study examined, for the first time, the impact of implementation intentions on Prospective memory (PM) performance in adults with autism spectrum disorders (ASD) and further explored the role of retrospective memory for PM in ASD. PM was assessed with Virtual Week, a computerized game simulating upcoming everyday-life tasks. Twenty-seven adults with ASD and 27 age- and ability-matched controls were included. Half of the participants were, instructed to form implementation intentions (i.e., encoding PM tasks in form of if-then statements), while the rest received simple PM instructions. Results provide first tentative evidence for beneficial effects of implementation intentions and PM tasks with low demands on retrospective memory for adults with ASD's PM. Overall, results point to the importance of planning and retrospective memory for successful prospective remembering in ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Kretschmer, Anett; Altgassen, Mareike] Tech Univ Dresden, Dept Psychol, D-01062 Dresden, Germany.
[Altgassen, Mareike] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands.
[Rendell, Peter G.] Australian Catholic Univ, Sch Psychol, Melbourne, Vic, Australia.
[Bolte, Sven] Karolinska Inst, Dept Womens & Childrens Hlth, Pediat Neuropsychiat Unit, Ctr Neurodev Disorders KIND, Stockholm, Sweden.
[Bolte, Sven] Stockholm Cty Council, Div Child & Adolescent Psychiat, Stockholm, Sweden.
RP Kretschmer, A (reprint author), Tech Univ Dresden, Dept Psychol, Zellescher Weg 17, D-01062 Dresden, Germany.
EM anett.kretschmer@tu-dresden.de
RI Altgassen, Mareike/J-3048-2012
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NR 72
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 NOV
PY 2014
VL 35
IS 11
BP 3108
EP 3118
DI 10.1016/j.ridd.2014.07.052
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300050
PM 25151603
ER
PT J
AU McStay, RL
Trembath, D
Dissanayake, C
AF McStay, Rebecca L.
Trembath, David
Dissanayake, Cheryl
TI Maternal stress and family quality of life in response to raising a
child with autism: From preschool to adolescence
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism; Stress; Family quality of life; Child behaviour; Social support
ID DOUBLE ABCX MODEL; SPECTRUM DISORDERS; INTELLECTUAL DISABILITY; BEHAVIOR
PROBLEMS; PARENTING STRESS; YOUNG-ADULTS; MALADAPTIVE BEHAVIORS;
SYNDROME SPECIFICITY; SYMPTOM SEVERITY; MOTHERS
AB While the impact of raising a child with an Autism Spectrum Disorder (ASD) is well documented, with mothers reporting higher levels of stress than mothers of children with other disabilities, positive maternal outcomes have also been identified. What remains unclear, however, is the role of child age on maternal outcomes. We sought to clarify the role of child age in maternal stress and family quality of life (FQoL) in mothers raising a child with ASD. Participants included 140 mothers of children aged 3-16 years grouped to represent four key stages of childhood (preschool, early school years, middle school, early high school). Using a cross-sectional design, mothers completed questionnaires assessing potential risk (e.g., child problem behaviour, symptom severity) and protective (e.g., family characteristics) factors attributed to maternal outcomes. The results revealed significant age related group differences in child internalising behaviour and ASD symptomatology between the early and middle school years. Lower levels of adaptive social behaviour in older age groups were also found. Although mothers of older children reported significantly less support from professionals than mothers of younger children, no significant age effects were found to contribute to maternal reports of stress or FQoL. The current findings support the view that mothers appear to demonstrate stable levels of stress and FQoL despite fluctuations in key child variables and a reduction in supports, across age, highlighting the ongoing nature of maternal needs and heightened levels of child symptomatology during adolescence. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [McStay, Rebecca L.; Dissanayake, Cheryl] La Trobe Univ, Olga Tennison Autism Res Ctr, Melbourne, Vic 3038, Australia.
[Trembath, David] Griffith Univ, Griffith Hlth Inst, Nathan, Qld 4111, Australia.
RP Dissanayake, C (reprint author), La Trobe Univ, Olga Tennison Autism Res Ctr, Melbourne, Vic 3038, Australia.
EM c.dissanayake@latrobe.edu.au
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NR 61
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 NOV
PY 2014
VL 35
IS 11
BP 3119
EP 3130
DI 10.1016/j.ridd.2014.07.043
PG 12
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300051
PM 25145805
ER
PT J
AU Debrabant, J
Plasschaert, E
Caeyenberghs, K
Vingerhoets, G
Legius, E
Janssens, S
Van Waelvelde, H
AF Debrabant, Julie
Plasschaert, Ellen
Caeyenberghs, Karen
Vingerhoets, Guy
Legius, Eric
Janssens, Sandra
Van Waelvelde, Hilde
TI Deficient motor timing in children with neurofibromatosis type 1
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Neurofibromatosis type 1; Reaction time; Motor timing; Motor
development; Children
ID DEVELOPMENTAL COORDINATION DISORDER; REACTION-TIME; POPULATION;
PERFORMANCE; DELAYS; AUTISM
AB Neurofibromatosis type 1 (NF1) is one of the most common single-gene disorders affecting fine and visual-motor skills. This case-control study investigated motor timing as a possible related performance deficit in children with NF1. A visual-motor reaction time (VRT) test was administered in 20 NF1 children (mean age 9 years 7 months) and 20 age- and gender-matched typically developing (TD) children. Copying and tracing performance were evaluated using the Beery-Buktenica Developmental Test of Visual-Motor Integration (Beery VMI). Children with NF1 responded with an increased reaction time (RT) to temporally predictive stimuli compared to TD children, whereas RT at unpredictiye stimuli did not differ between groups. Motor timing indexed by the RT decrease at predictive stimuli significantly associated with the Beery VMI copy and tracing outcomes. Deficient motor timing as an actual symptom may add to further research on the pathogenesis of NF1-associated motor impairment and the development of more effective treatment. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Debrabant, Julie; Caeyenberghs, Karen; Van Waelvelde, Hilde] Univ Ghent, Ghent Univ Hosp, Dept Rehabil Sci & Physiotherapy, B-9000 Ghent, Belgium.
[Plasschaert, Ellen; Legius, Eric] Univ Hosp Leuven, Ctr Human Genet, B-3000 Leuven, Belgium.
[Plasschaert, Ellen; Legius, Eric] Katholieke Univ Leuven, Dept Human Genet, B-3000 Leuven, Belgium.
[Caeyenberghs, Karen] Univ Ghent, Dept Movement & Sports Sci, B-9000 Ghent, Belgium.
[Vingerhoets, Guy] Univ Ghent, Dept Expt Psychol, B-9000 Ghent, Belgium.
[Janssens, Sandra] Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium.
RP Debrabant, J (reprint author), Univ Ghent, Ghent Univ Hosp, Dept Rehabil Sci & Physiotherapy, Campus Heymans,2B3,De Pintelaan 185, B-9000 Ghent, Belgium.
EM Julie.debrabant@ugent.be
CR Beery K. E., 2004, BEERY BUKTENICA DEV
Bo J, 2014, RES DEV DISABIL, V35, P2035, DOI 10.1016/j.ridd.2014.04.027
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NR 35
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 NOV
PY 2014
VL 35
IS 11
BP 3131
EP 3138
DI 10.1016/j.ridd.2014.07.059
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300052
PM 25145806
ER
PT J
AU Turygin, NC
Matson, JL
Adams, HL
Williams, LW
AF Turygin, Nicole C.
Matson, Johnny L.
Adams, Hilary L.
Williams, Lindsey W.
TI Co-occurring disorder clusters in adults with mild and moderate
intellectual disability in residential treatment settings
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Intellectual disability; Developmental disabilities; Psychopathology;
Comorbidity; Adults
ID II DASH-II; COMORBIDITY SURVEY REPLICATION; PROFOUND MENTAL-RETARDATION;
AUTISM SPECTRUM DISORDERS; DIAGNOSTIC-ASSESSMENT; MOOD DISORDERS;
SUBSTANCE USE; PSYCHIATRIC-DISORDERS; ANXIETY DISORDERS; COMMUNITY
SAMPLE
AB In the typically developing population, co-occurring psychopathology is not uncommon and is a topic of importance among psychologists. It is only recently that the psychopathology in individuals with intellectual disability (ID) has become an area of significant clinical and research interest. Individuals with ID are believed to be at a greater risk for co-occurring disorders compared to the typical population. By definition, ID. involves deficits in adaptive behavior, which necessitates the use of community services, or specialized services at residential facilities to manage severe challenging behaviors or psychiatric disorders. The presence of co-occurring disorders in addition to ID can complicate treatment, limit available services, and restrict opportunities for individuals with ID. The present study examines the prevalence of co-occurring psychiatric disorders and ID in a sample of 78 individuals with mild to moderate ID living in a long-term residential treatment facility diagnosed with psychiatric disorders. Certain psychiatric disorders were more likely to co-occur together in this population. Identifying and treating individuals with multiple psychopathologies in addition to ID poses challenges unique to the population. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Turygin, Nicole C.; Matson, Johnny L.; Adams, Hilary L.; Williams, Lindsey W.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Turygin, NC (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM nturyg1@tigers.lsu.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 NOV
PY 2014
VL 35
IS 11
BP 3156
EP 3161
DI 10.1016/j.ridd.2014.07.039
PG 6
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300055
PM 25151605
ER
PT J
AU Walder, DJ
Laplante, DR
Sousa-Pires, A
Veru, F
Brunet, A
King, S
AF Walder, Deborah J.
Laplante, David R.
Sousa-Pires, Alexandra
Veru, Franz
Brunet, Alain
King, Suzanne
TI Prenatal maternal stress predicts autism traits in 61/2 year-old
children: Project Ice Storm
SO PSYCHIATRY RESEARCH
LA English
DT Article
DE Prenatal maternal stress; Autism spectrum disorder; Natural disaster;
Sex differences; Dimensional model; Developmental psychopathology;
Pregnancy
ID AT-RISK YOUTH; CORTISOL SECRETION; SEX-DIFFERENCES; NEURODEVELOPMENTAL
DISORDERS; PSYCHIATRIC-DISORDERS; POSTNATAL DEPRESSION; PROBING
INTERACTIONS; SPECTRUM DISORDERS; INFANT TEMPERAMENT; ANTENATAL ANXIETY
AB Research implicates prenatal maternal stress (PNMS) as a risk factor for neurodevelopmental disorders; however few studies report PNMS effects on autism risk in offspring. We examined, prospectively, the degree to which objective and subjective elements of PNMS explained variance in autism-like traits among offspring, and tested moderating effects of sex and PNMS timing in utero. Subjects were 89 (46F/43M) children who were in utero during the 1998 Quebec Ice Storm. Soon after the storm, mothers completed questionnaires on objective exposure and subjective distress, and completed the Autism Spectrum Screening Questionnaire (ASSQ) for their children at age 61/2. ASSQ scores were higher among boys than girls. Greater objective and subjective PNMS predicted higher ASSQ independent of potential confounds. An objective-by-subjective interaction suggested that when subjective PNMS was high, objective PNMS had little effect; whereas when subjective PNMS was low, objective PNMS strongly affected ASSQ scores. A timing-by-objective stress interaction suggested objective stress significantly affected ASSQ in first-trimester exposed children, though less so with later exposure. The final regression explained 43% of variance in ASSQ scores; the main effect of sex and the sex-by-PNMS interactions were not significant. Findings may help elucidate neurodevelopmental origins of non-clinical autism-like traits from a dimensional perspective. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Walder, Deborah J.] CUNY Brooklyn Coll, Dept Psychol, Brooklyn, NY 11210 USA.
[Walder, Deborah J.] CUNY, Grad Ctr, Brooklyn, NY 11210 USA.
[Laplante, David R.; Sousa-Pires, Alexandra; Veru, Franz; Brunet, Alain; King, Suzanne] Douglas Mental Hlth Univ Inst, Psychosocial Res Div, Verdun, PQ H4H 1R3, Canada.
[Veru, Franz; Brunet, Alain; King, Suzanne] McGill Univ, Dept Psychiat, Montreal, PQ H3A 1A1, Canada.
RP King, S (reprint author), Douglas Mental Hlth Univ Inst, Psychosocial Res Div, 6875 LaSalle Blvd, Verdun, PQ H4H 1R3, Canada.
EM Suzanne.King@mcgill.ca
FU McGill University Stairs Memorial Fund; Canadian Institutes of Health
Research [MOP-57849]; Douglas Hospital Research Centre; Fonds de la
recherche en sante du Quebec
FX We thank the families who have participated in Project Ice Storm since
1998. We thank Shannon Woo, Cheryl Chanson, and Sawsan Mbirkou for data
entry. This study was supported by Grants from the McGill University
Stairs Memorial Fund, the Canadian Institutes of Health Research (Grant
no. MOP-57849), and the Douglas Hospital Research Centre, and a research
fellowship from the Fonds de la recherche en sante du Quebec awarded to
Suzanne King.
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NR 86
TC 2
Z9 2
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-1781
J9 PSYCHIAT RES
JI Psychiatry Res.
PD OCT 30
PY 2014
VL 219
IS 2
BP 353
EP 360
DI 10.1016/j.psychres.2014.04.034
PG 8
WC Psychiatry
SC Psychiatry
GA AN1AG
UT WOS:000340314500018
PM 24907222
ER
PT J
AU Mealey, A
Abbott, G
Byrne, LK
McGillivray, J
AF Mealey, Alex
Abbott, Gavin
Byrne, Linda K.
McGillivray, Jane
TI Overlap between autistic and schizotypal personality traits is not
accounted for by anxiety and depression
SO PSYCHIATRY RESEARCH
LA English
DT Article
DE Schizotypy; Schizotypal traits; Autism spectrum disorder; Autistic
personality traits; Depression; Anxiety
ID LARGE NONCLINICAL SAMPLE; SPECTRUM QUOTIENT AQ; SCHIZOPHRENIA; DISORDER;
VALIDITY; MATHEMATICIANS; ADOLESCENTS; RELIABILITY; POPULATION; SYMPTOMS
AB Autism spectrum and schizophrenia spectrum disorders are classified separately in the DSM-5, yet research indicates that these two disorders share overlapping features. The aim of the present study was to examine the overlap between autistic and schizotypal personality traits and whether anxiety and depression act as confounding variables in this relationship within a non-clinical population. One hundred and forty-four adults completed the Autism Spectrum Quotient and the Schizotypal Personality Questionnaire and the Depression Anxiety Stress Scales-21. A number of associations were seen between autistic and schizotypal personality traits. However, negative traits were the only schizotypal feature to uniquely predict global autistic traits, thus highlighting the importance of interpersonal qualities in the overlap of autistic and schizotypal characteristics. The inclusion of anxiety and depression did not alter relationships between autistic and schizotypal traits, indicating that anxiety and depression are not confounders of this relationship. These findings have important implications for the conceptualisation of both disorders. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Mealey, Alex; Abbott, Gavin; Byrne, Linda K.; McGillivray, Jane] Deakin Univ, Sch Psychol, Burwood, Vic 3125, Australia.
RP Byrne, LK (reprint author), Deakin Univ, Sch Psychol, 221 Burwood Highway, Burwood, Vic 3125, Australia.
EM linda.byrne@deakin.edu.au
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NR 41
TC 1
Z9 1
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 OCT 30
PY 2014
VL 219
IS 2
BP 380
EP 385
DI 10.1016/j.psychres.2014.05.040
PG 6
WC Psychiatry
SC Psychiatry
GA AN1AG
UT WOS:000340314500022
PM 24930576
ER
PT J
AU Hagenmuller, F
Rossler, W
Wittwer, A
Haker, H
AF Hagenmuller, Florence
Roessler, Wulf
Wittwer, Amrei
Haker, Helene
TI Juicy lemons for measuring basic empathic resonance
SO PSYCHIATRY RESEARCH
LA English
DT Article
DE Contagion; Empathy; Perception-action link; Salivation; Methodology
ID AUTISM SPECTRUM DISORDERS; ASPERGER-SYNDROME; EMBODIED EMPATHY;
SALIVATION; STIMULI; FLOW; SCHIZOPHRENIA; INTROVERSION; SECRETION;
EMOTION
AB Watch or even think of someone biting into a juicy lemon and your saliva will flow. This is a phenomenon of resonance, best described by the Perception Action Model, where a physiological state in a person is activated through observation of this state in another. Within a broad framework of empathy, including manifold abilities depending on the Perception-Action link, resonance has been proposed as one physiological substrate for empathy. Using 49 healthy subjects, we developed a standardized salivation paradigm to assess empathic resonance at the autonomic level. Our results showed that this physiological resonance correlated positively with self-reported empathic concern. The salivation test, delivered an objective and continuous measure, was simple to implement in terms of setup and instruction, and could not easily be unintentionally biased or intentionally manipulated by participants. Therefore, these advantages make such a test a useful tool for assessing empathy-related abilities in psychiatric populations. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Hagenmuller, Florence] Univ Hosp Psychiat Zurich, Dept Psychiat Psychotherapy & Psychosomat, CH-8021 Zurich, Switzerland.
[Hagenmuller, Florence; Roessler, Wulf; Wittwer, Amrei; Haker, Helene] Univ Zurich, Coll Helveticum, Zurich, Switzerland.
[Hagenmuller, Florence; Roessler, Wulf; Wittwer, Amrei; Haker, Helene] ETH, Zurich, Switzerland.
[Haker, Helene] Univ Zurich, Inst Biomed Engn, Translat Neuromodeling Unit, Zurich, Switzerland.
[Roessler, Wulf] Univ Sao Paulo, Inst Psychiat, Lab Neurosci LIM 27, Sao Paulo, Brazil.
RP Hagenmuller, F (reprint author), Univ Hosp Psychiat Zurich, Dept Psychiat Psychotherapy & Psychosomat, POB 1930, CH-8021 Zurich, Switzerland.
EM florence.hagenmuller@dgsp.uzh.ch
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NR 64
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-1781
J9 PSYCHIAT RES
JI Psychiatry Res.
PD OCT 30
PY 2014
VL 219
IS 2
BP 391
EP 396
DI 10.1016/j.psychres.2014.05.053
PG 6
WC Psychiatry
SC Psychiatry
GA AN1AG
UT WOS:000340314500024
PM 24953424
ER
PT J
AU Reynolds, MT
Van Rheenen, TE
Rossell, SL
AF Reynolds, Michael T.
Van Rheenen, Tamsyn E.
Rossell, Susan L.
TI Theory of mind in first degree relatives of individuals with bipolar
disorder
SO PSYCHIATRY RESEARCH
LA English
DT Article
DE Endophenotypes; Social cognition; Mood disorders
ID SOCIAL COGNITION; ASPERGER-SYNDROME; SCHIZOPHRENIA; DEFICITS; ADULTS;
AUTISM; SCALE
AB We assessed theory of mind (TOM) performance in unaffected first-degree relatives of individuals with bipolar disorder compared to healthy controls across several well recognised tasks. Results indicated that the former group were significantly impaired on the verbal but not visual or higher-order ToM tasks, suggesting that a verbal ToM deficit might be a useful endophenotypic marker for bipolar disorder. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Reynolds, Michael T.; Van Rheenen, Tamsyn E.; Rossell, Susan L.] Swinburne Univ Technol, Sch Hlth Sci, Brain & Psychol Sci Res Ctr, Melbourne, Vic, Australia.
[Reynolds, Michael T.; Van Rheenen, Tamsyn E.; Rossell, Susan L.] Alfred Hosp, Monash Alfred Psychiat Res Ctr, Melbourne, Vic, Australia.
[Reynolds, Michael T.; Van Rheenen, Tamsyn E.; Rossell, Susan L.] Monash Univ, Cent Clin Sch, Melbourne, Vic 3004, Australia.
RP Van Rheenen, TE (reprint author), Monash Alfred Psychiat Res Ctr, Cognit Neuropsychiat Lab, Level 4,607 St Kilda Rd, Melbourne, Vic 3004, Australia.
EM tvanrheenen@swin.edu.au
FU Australian Rotary Health/Bipolar expedition; Helen McPherson Smith
Trust; Australian Postgraduate Award
FX The authors declare no conflicts of interest but would like to
acknowledge the financial support of the Australian Rotary
Health/Bipolar expedition, Helen McPherson Smith Trust, and an
Australian Postgraduate Award.
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NR 28
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-1781
J9 PSYCHIAT RES
JI Psychiatry Res.
PD OCT 30
PY 2014
VL 219
IS 2
BP 400
EP 402
DI 10.1016/j.psychres.2014.05.041
PG 3
WC Psychiatry
SC Psychiatry
GA AN1AG
UT WOS:000340314500026
PM 24947917
ER
PT J
AU Weidle, B
Jozefiak, T
Ivarsson, T
Thomsen, PH
AF Weidle, Bernhard
Jozefiak, Thomas
Ivarsson, Tord
Thomsen, Per Hove
TI Quality of life in children with OCD with and without comorbidity
SO HEALTH AND QUALITY OF LIFE OUTCOMES
LA English
DT Article
DE Pediatric OCD; Quality of life; Comorbidity; Assessment
ID OBSESSIVE-COMPULSIVE DISORDER; NORWEGIAN SCHOOL-CHILDREN; AUTISM
SPECTRUM DISORDER; TOURETTE SYNDROME; FOLLOW-UP; FAMILY ACCOMMODATION;
THE-LITERATURE; ADOLESCENTS; HEALTH; SAMPLE
AB Background: Quality of life (QoL) is a well-established outcome measure. However, in contrast to adult obsessive-compulsive disorder (OCD), little is known about QoL in children with OCD. This study aimed to assess QoL, social competence and school functioning of paediatric patients with OCD by comparing them with the general population and assessing the relations between comorbidity, duration and severity of symptoms, family accommodation and QoL.
Methods: Children and adolescents (n = 135), aged 7-17 (mean 13 [SD 2.7] years; 48.1% female) were assessed at baseline for treatment. QoL was assessed by self-report and caregiver's proxy report on the Questionnaire for Measuring Health-related Quality of Life in Children and Adolescents (KINDL-R) and compared with an age-and sex-matched sample from the general population. Social competence and school functioning were assessed with the Child Behavior Checklist, comorbidity with the Kiddie Schedule for Affective Disorders and Schizophrenia (Present and Lifetime Version), severity of OCD with the Children's Yale-Brown Obsessive Compulsive Scale and the families' involvement with the child's OCD symptoms with the Family Accommodation Scale.
Results: QoL and social competence were reduced (p < .001) in patients with OCD compared with controls (KINDL-R mean score 62.40 [SD 13.00] versus 69.72 [12.38] in self-reports and 61.63 [SD 13.27] versus 74.68 [9.97] in parent reports). Patients with comorbidity had lower QoL (p = .001) in proxy ratings than those with OCD only (mean score 56.26 [SD 12.47] versus 64.30 [SD 12.75]). In parent proxy reports, severity of OCD (r = -.28) and family accommodation (r = -.40) correlated moderately negatively with QoL.
Conclusions: To our knowledge, this is the largest QoL study of paediatric OCD. QoL was markedly reduced in children with OCD, especially in those with comorbid psychiatric disorders. Based on our findings, we suggest employing QoL assessment in order to have a more comprehensive understanding of childhood OCD.
C1 [Weidle, Bernhard; Jozefiak, Thomas] St Olavs Univ Hosp, Dept Child & Adolescent Psychiat, Trondheim, Norway.
[Weidle, Bernhard; Jozefiak, Thomas] Norwegian Univ Sci & Technol, Fac Med, Reg Ctr Child & Youth Mental Hlth & Child Welf, N-7034 Trondheim, Norway.
[Ivarsson, Tord] Eastern & Southern Norway, Ctr Child & Adolescent Mental Hlth, N-0484 Oslo, Norway.
[Thomsen, Per Hove] Aarhus Univ Hosp, Psychiat Hosp Children & Adolescents, Risskov, Denmark.
RP Weidle, B (reprint author), St Olavs Univ Hosp, Dept Child & Adolescent Psychiat, Trondheim, Norway.
EM bernhard.weidle@stolav.no
FU Norwegian Research Council; St. Olav's Hospital, Department of Child and
Adolescent Psychiatry, Trondheim
FX This study was funded with support by the Norwegian Research Council and
St. Olav's Hospital, Department of Child and Adolescent Psychiatry,
Trondheim. We wish to thank all patients, parents, and the participating
clinics for their contribution to the study.
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NR 48
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1477-7525
J9 HEALTH QUAL LIFE OUT
JI Health Qual. Life Outcomes
PD OCT 29
PY 2014
VL 12
AR 152
DI 10.1186/s12955-014-0152-x
PG 12
WC Health Care Sciences & Services; Health Policy & Services
SC Health Care Sciences & Services
GA AU1BH
UT WOS:000345355500001
PM 25358486
ER
PT J
AU Santini, E
Klann, E
AF Santini, Emanuela
Klann, Eric
TI Reciprocal signaling between translational control pathways and synaptic
proteins in autism spectrum disorders
SO SCIENCE SIGNALING
LA English
DT Review
ID FRAGILE-X-SYNDROME; MENTAL-RETARDATION PROTEIN; POSTSYNAPTIC DENSITY
PROTEINS; PERVASIVE DEVELOPMENTAL DISORDERS; GTPASE-ACTIVATING PROTEIN;
CAP-DEPENDENT TRANSLATION; LHERMITTE-DUCLOS-DISEASE; 22Q13 DELETION
SYNDROME; INITIATION-FACTOR 4E; TSC2 GAP ACTIVITY
AB Autism spectrum disorder (ASD) is a heterogeneous group of heritable neurodevelopmental disorders. Symptoms of ASD, which include deficits in social interaction skills, impaired communication ability, and ritualistic-like repetitive behaviors, appear in early childhood and continue throughout life. Genetic studies have revealed at least two clusters of genes frequently associated with ASD and intellectual disability: those encoding proteins involved in translational control and those encoding proteins involved in synaptic function. We hypothesize that mutations occurring in these two clusters of genes interfere with interconnected downstream signaling pathways in neuronal cells to cause ASD symptomatology. In this review, we discuss the monogenic forms of ASD caused by mutations in genes encoding for proteins that regulate translation and synaptic function. Specifically, we describe the function of these proteins, the intracellular signaling pathways that they regulate, and the current mouse models used to characterize the synaptic and behavioral features associated with their mutation. Finally, we summarize recent studies that have established a connection between mRNA translation and synaptic function in models of ASD and propose that dysregulation of one has a detrimental impact on the other.
C1 [Santini, Emanuela; Klann, Eric] NYU, Ctr Neural Sci, New York, NY 10003 USA.
RP Klann, E (reprint author), NYU, Ctr Neural Sci, New York, NY 10003 USA.
EM ek65@nyu.edu
FU NIH [NS034007, NS047384, NS087112]; CDRMP-DoD award [AR100216]
FX Research in the Klann laboratory is supported with funds from NIH grants
NS034007 (E.K.), NS047384 (E.K.), and NS087112 (E.S.) and CDRMP-DoD
award AR100216.
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NR 165
TC 1
Z9 2
PU AMER ASSOC ADVANCEMENT SCIENCE
PI WASHINGTON
PA 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA
SN 1945-0877
EI 1937-9145
J9 SCI SIGNAL
JI Sci. Signal.
PD OCT 28
PY 2014
VL 7
IS 349
AR re10
DI 10.1126/scisignal.2005832
PG 10
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA AS2ZW
UT WOS:000344145900005
PM 25351249
ER
PT J
AU Singh, K
Connors, SL
Macklin, EA
Smith, KD
Fahey, JW
Talalay, P
Zimmerman, AW
AF Singh, Kanwaljit
Connors, Susan L.
Macklin, Eric A.
Smith, Kirby D.
Fahey, Jed W.
Talalay, Paul
Zimmerman, Andrew W.
TI Sulforaphane treatment of autism spectrum disorder (ASD)
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
ID CLINICAL-TRIAL; CHILDREN; BROCCOLI; CHEMOPREVENTION; ACTIVATION;
ENZYMES; STRESS; CANCER; CHINA
AB Autism spectrum disorder (ASD), characterized by both impaired communication and social interaction, and by stereotypic behavior, affects about 1 in 68, predominantly males. The medico-economic burdens of ASD are enormous, and no recognized treatment targets the core features of ASD. In a placebo-controlled, double-blind, randomized trial, young men (aged 13-27) with moderate to severe ASD received the phytochemical sulforaphane (n = 29)-derived from broccoli sprout extracts-or indistinguishable placebo (n = 15). The effects on behavior of daily oral doses of sulforaphane (50-150 mu mol) for 18 wk, followed by 4 wk without treatment, were quantified by three widely accepted behavioral measures completed by parents/caregivers and physicians: the Aberrant Behavior Checklist (ABC), Social Responsiveness Scale (SRS), and Clinical Global Impression Improvement Scale (CGI-I). Initial scores for ABC and SRS were closely matched for participants assigned to placebo and sulforaphane. After 18 wk, participants receiving placebo experienced minimal change (<3.3%), whereas those receiving sulforaphane showed substantial declines (improvement of behavior): 34% for ABC (P < 0.001, comparing treatments) and 17% for SRS scores (P = 0.017). On CGI-I, a significantly greater number of participants receiving sulforaphane had improvement in social interaction, abnormal behavior, and verbal communication (P = 0.015-0.007). Upon discontinuation of sulforaphane, total scores on all scales rose toward pretreatment levels. Dietary sulforaphane, of recognized low toxicity, was selected for its capacity to reverse abnormalities that have been associated with ASD, including oxidative stress and lower antioxidant capacity, depressed glutathione synthesis, reduced mitochondrial function and oxidative phosphorylation, increased lipid peroxidation, and neuroinflammmation.
C1 [Singh, Kanwaljit; Connors, Susan L.; Zimmerman, Andrew W.] Harvard Univ, Sch Med, Massachusetts Gen Hosp Children, Lurie Ctr Autism,Dept Pediat, Lexington, MA 02421 USA.
[Singh, Kanwaljit; Zimmerman, Andrew W.] Univ Massachusetts, Sch Med, Dept Pediat Neurol, Worcester, MA 01655 USA.
[Macklin, Eric A.] Massachusetts Gen Hosp, Biostat Ctr, Dept Med, Boston, MA 02114 USA.
[Smith, Kirby D.] Johns Hopkins Univ, Sch Med, Lewis B & Dorothy Cullman Chemoprotect Ctr, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA.
[Fahey, Jed W.; Talalay, Paul] Johns Hopkins Univ, Sch Med, Lewis B & Dorothy Cullman Chemoprotect Ctr, Dept Pharmacol & Mol Sci, Baltimore, MD 21205 USA.
RP Talalay, P (reprint author), Johns Hopkins Univ, Sch Med, Lewis B & Dorothy Cullman Chemoprotect Ctr, Dept Pharmacol & Mol Sci, Baltimore, MD 21205 USA.
EM ptalalay@jhmi.edu; Andrew.Zimmerman@umassmemorial.org
FU Nancy Lurie Marks Family Foundation; Hussman Foundation; Lewis B. and
Dorothy Cullman Foundation; Agnes Gund Foundation; N of One Foundation;
Brassica Foundation for Chemoprotection Research
FX We thank the participants and their families who were consistently
interested and gave generously of their time; Scott Zeger for
discussions on biostatistics; Jessica Helt and Karmen Koesterer for
patient testing and Luisa Masclans for data collection; Ann Neumeyer,
who chaired the Data Safety Monitoring Board and was consulted regarding
safety and side effects; Jennifer Mullett for assisting with study
procedures; and Christine Ferrone and Lisa Nowinski for advising us on
regulatory matters and outcome measures. The quality of data collection,
retrieval, and analysis were certified by Quality Associates
Incorporated. The study was supported by gifts from the Nancy Lurie
Marks Family Foundation, the Hussman Foundation, the Lewis B. and
Dorothy Cullman Foundation, the Agnes Gund Foundation, the N of One
Foundation, and the Brassica Foundation for Chemoprotection Research.
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 39
TC 4
Z9 4
PU NATL ACAD SCIENCES
PI WASHINGTON
PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA
SN 0027-8424
J9 P NATL ACAD SCI USA
JI Proc. Natl. Acad. Sci. U. S. A.
PD OCT 28
PY 2014
VL 111
IS 43
BP 15550
EP 15555
DI 10.1073/pnas.1416940111
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AR6ZL
UT WOS:000343729500070
PM 25313065
ER
PT J
AU Jyonouchi, H
Geng, L
Davidow, AL
AF Jyonouchi, Harumi
Geng, Lee
Davidow, Amy L.
TI Cytokine profiles by peripheral blood monocytes are associated with
changes in behavioral symptoms following immune insults in a subset of
ASD subjects: an inflammatory subtype?
SO JOURNAL OF NEUROINFLAMMATION
LA English
DT Article
DE ASD; inflammatory subtype; NFA; GI symptoms; Cytokines; Neuroimmune
network
ID AUTISM SPECTRUM DISORDERS; PSYCHOMETRIC PROPERTIES; AUTOIMMUNE-DISEASES;
PB MONOCYTES; CHILDREN; SCHIZOPHRENIA; INTERLEUKIN-6; MICRORNAS;
CHECKLIST; ALLERGY
AB Background: Some children with autism spectrum disorders (ASD) are characterized by fluctuating behavioral symptoms following immune insults, persistent gastrointestinal (GI) symptoms, and a lack of response to the first-line intervention measures. These children have been categorized as the ASD-inflammatory subtype (ASD-IS) for this study. We reported a high prevalence of non-IgE mediated food allergy (NFA) in young ASD children before, but not all ASD/NFA children reveal such clinical features of ASD-IS. This study addressed whether behavioral changes of ASD-IS are associated with innate immune abnormalities manifested in isolated peripheral blood (PB) monocytes (Mo), major innate immune cells in the PB.
Methods: This study includes three groups of ASD subjects (ASD-IS subjects (N = 24), ASD controls with a history of NFA (ASD/NFA (N = 20), and ASD/non-NFA controls (N = 20)) and three groups of non-ASD controls (non-ASD/NFA subjects (N = 16), those diagnosed with pediatric acute onset-neuropsychiatric syndrome (PANS, N = 18), and normal controls without NFA or PANS (N = 16)). Functions of purified PB Mo were assessed by measuring the production of inflammatory and counter-regulatory cytokines with or without stimuli of innate immunity (lipopolysaccharide (LPS), zymosan, CL097, and candida heat extracts as a source of beta-lactam). In ASD-IS and PANS subjects, these assays were done in the state of behavioral exacerbation ('flare') and in the stable (` non-flare') condition. ASD-IS children in the ` flare' state revealed worsening irritability, lethargy and hyperactivity.
Results: ` Flare' ASD-IS PB Mo produced higher amounts of inflammatory cytokines (IL-1 beta and IL-6) without stimuli than ` non-flare' ASD-IS cells. With zymosan, ` flare' ASD-IS cells produced more IL-1 beta than most control cells, despite spontaneous production of large amounts of IL-1 beta. Moreover, ` flare' ASD-IS Mo produced less IL-10, a counterregulatory cytokine, in response to stimuli than ` non-flare' cells or other control cells. These changes were not observed in PANS cells.
Conclusions: We observed an imbalance in the production of inflammatory (IL-1 beta and IL-6) and counterregulatory (IL-10) cytokines by ` flare' ASD-IS monocytes, which may indicate an association between intrinsic abnormalities of PB Mo and changes in behavioral symptoms in the ASD-IS subjects.
C1 [Jyonouchi, Harumi; Geng, Lee] St Peters Univ Hosp, Dept Pediat, New Brunswick, NJ 08873 USA.
[Davidow, Amy L.] Rutgers State Univ, New Jersey Med Sch, Dept Publ Hlth, Newark, NJ 07101 USA.
RP Jyonouchi, H (reprint author), St Peters Univ Hosp, Dept Pediat, 254 Easton Ave, New Brunswick, NJ 08873 USA.
EM hjyonouchi@saintpetersuh.com
FU Jonty Foundation; St. Paul, MN, Autism Research Institute, San Diego,
CA; Governor's Council for Medical Research and Treatment of Autism, NJ
FX The authors are thankful to Dr. Lisa Huguenin for critically reviewing
this manuscript. This study was funded by the Jonty Foundation, St.
Paul, MN, Autism Research Institute, San Diego, CA, and the Governor's
Council for Medical Research and Treatment of Autism, NJ.
CR Akins RS, 2014, J DEV BEHAV PEDIATR, V35, P1, DOI 10.1097/DBP.0000000000000013
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[Anonymous], 2007, J ALLERGY CLIN IMMUN, V120, pS94
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NR 41
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1742-2094
J9 J NEUROINFLAMM
JI J. Neuroinflamm.
PD OCT 27
PY 2014
VL 11
AR 187
DI 10.1186/s12974-014-0187-2
PG 13
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA AW6KN
UT WOS:000346378500001
PM 25344730
ER
PT J
AU Leung, RC
Ye, AX
Wong, SM
Taylor, MJ
Doesburg, SM
AF Leung, Rachel C.
Ye, Annette X.
Wong, Simeon M.
Taylor, Margot J.
Doesburg, Sam M.
TI Reduced beta connectivity during emotional face processing in
adolescents with autism
SO MOLECULAR AUTISM
LA English
DT Article
DE Functional connectivity; Autism spectrum disorders; Affect processing;
Neural oscillation; Magnetoencephalography; Social cognition; Neural
synchrony; Beta-band; Graph theory; Cognitive development; Face
processing
ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; FACIAL EXPRESSIONS; BRAIN
NETWORKS; NEURONAL SYNCHRONY; ASPERGER-SYNDROME; NEURAL SYSTEMS;
CHILDREN; RECOGNITION; AMYGDALA
AB Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social cognition. The biological basis of deficits in social cognition in ASD, and their difficulty in processing emotional face information in particular, remains unclear. Atypical communication within and between brain regions has been reported in ASD. Interregional phase-locking is a neurophysiological mechanism mediating communication among brain areas and is understood to support cognitive functions. In the present study we investigated interregional magnetoencephalographic phase synchronization during the perception of emotional faces in adolescents with ASD.
Methods: A total of 22 adolescents with ASD (18 males, mean age = 14.2 +/- 1.15 years, 22 right-handed) with mild to no cognitive delay and 17 healthy controls (14 males, mean age = 14.4 +/- 0.33 years, 16 right-handed) performed an implicit emotional processing task requiring perception of happy, angry and neutral faces while we recorded neuromagnetic signals. The faces were presented rapidly (80 ms duration) to the left or right of a central fixation cross and participants responded to a scrambled pattern that was presented concurrently on the opposite side of the fixation point. Task-dependent interregional phase-locking was calculated among source-resolved brain regions.
Results: Task-dependent increases in interregional beta synchronization were observed. Beta-band interregional phase-locking in adolescents with ASD was reduced, relative to controls, during the perception of angry faces in a distributed network involving the right fusiform gyrus and insula. No significant group differences were found for happy or neutral faces, or other analyzed frequency ranges. Significant reductions in task-dependent beta connectivity strength, clustering and eigenvector centrality (all P < 0.001) in the right insula were found in adolescents with ASD, relative to controls.
Conclusions: Reduced beta synchronization may reflect inadequate recruitment of task-relevant networks during emotional face processing in ASD. The right insula, specifically, was a hub of reduced functional connectivity and may play a prominent role in the inability to effectively extract emotional information from faces. These findings suggest that functional disconnection in brain networks mediating emotional processes may contribute to deficits in social cognition in this population.
C1 [Leung, Rachel C.; Ye, Annette X.; Wong, Simeon M.; Taylor, Margot J.; Doesburg, Sam M.] Hosp Sick Children, Dept Diagnost Imaging, Toronto, ON M5G 1X8, Canada.
[Leung, Rachel C.; Taylor, Margot J.; Doesburg, Sam M.] Univ Toronto, Dept Psychol, Toronto, ON M5S 3G3, Canada.
[Leung, Rachel C.; Ye, Annette X.; Taylor, Margot J.; Doesburg, Sam M.] Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, Canada.
[Ye, Annette X.; Taylor, Margot J.; Doesburg, Sam M.] Univ Toronto, Fac Med, Inst Med Sci, Toronto, ON M5S 1A8, Canada.
[Taylor, Margot J.; Doesburg, Sam M.] Univ Toronto, Fac Med, Dept Med Imaging, Toronto, ON M5T 1W7, Canada.
RP Leung, RC (reprint author), Hosp Sick Children, Dept Diagnost Imaging, 555 Univ Ave, Toronto, ON M5G 1X8, Canada.
EM rachel.leung@sickkids.ca
FU Matching Funds Program Hospital for Sick Children Foundation Student
Scholarship Program; Canadian Institutes of Health Research grant
[MOP-119541]
FX RCL was supported through a studentship by the Matching Funds Program
Hospital for Sick Children Foundation Student Scholarship Program. This
study was supported by a Canadian Institutes of Health Research grant
(grant number: MOP-119541) to MJT.
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NR 93
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD OCT 27
PY 2014
VL 5
AR 51
DI 10.1186/2040-2392-5-51
PG 13
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AS2JP
UT WOS:000344106500001
PM 25371811
ER
PT J
AU Alfawaz, HA
Bhat, RS
Al-Ayadhi, L
El-Ansary, AK
AF Alfawaz, Hanan A.
Bhat, Ramesa Shafi
Al-Ayadhi, Laila
El-Ansary, Afaf K.
TI Protective and restorative potency of Vitamin D on persistent
biochemical autistic features induced in propionic acid-intoxicated rat
pups
SO BMC COMPLEMENTARY AND ALTERNATIVE MEDICINE
LA English
DT Article
DE Vitamin D; Autism; Serotonin; Glutathione-s-transferase; Interferon
gamma; Comet DNA assay
ID D-RECEPTOR GENE; 1,25-DIHYDROXYVITAMIN D-3; SYNAPTIC-TRANSMISSION; ADULT
HIPPOCAMPUS; NERVOUS-SYSTEM; CLINICAL-TRIAL; GROWTH-FACTOR; CHILDREN;
CANCER; CALCIUM
AB Background: Reducing exposure to toxic environmental agents is a critical area of intervention. Prenatal or postnatal exposure to certain chemicals has been documented to increase the risk of autism spectrum disorder. Propionic acid (PA) found in some foods and formed as a metabolic product of gut microbiota has been reported to mediate the effects of autism. Results from animal studies may help to identify environmental contaminants and drugs that produce or prevent neurotoxicity, and may thereby aid in the treatment of neurodevelopmental disorders such as autism. The present study investigated the protective and/or therapeutic effects of vitamin D against brain intoxication induced by propionic acid (PPA) in rats.
Methods: Twenty-eight young male Western Albino rats were enrolled in the present study. They were grouped into four equal groups of 7. The control group received only phosphate buffered saline; the oral buffered PPA-treated group received a neurotoxic dose of 250 mg/kg body weight/day for 3 days; and the Vitamin D-protected group received 1000 IU/kg/day of alpha, 25-dihydroxyvitamin D (3) (1, 25-VD) for two weeks, after which the rats were injected with PPA 250 mg/Kg body weight/day for 3 days. The fourth group received PPA 250 mg/Kg body weight/day for 3 days followed by alpha, 25-dihydroxyvitamin D (3) (1, 25-VD) for two weeks (Vitamin D therapeutic effect). Vitamin D and calcium were measured in the plasma of the four studied groups. Serotonin, interferon gamma (IFN-gamma), glutathione-s-transferase activity and DNA double helix breaks were assayed in the brain tissue of the rats for all groups.
Results: The obtained data showed that the PPA-treated group demonstrated higher plasma vitamin D levels compared to the control rats, together with multiple signs of brain toxicity, as indicated by a depletion of serotonin (5HT), an increase in IFN-gamma and inhibition of glutathione-s-transferase activity as three biomarkers of brain dysfunction. Additionally, Comet DNA assays showed remarkably higher tail length, tail DNA % damage and tail moment as a neurotoxic effect of PPA.
Conclusions: Vitamin D showed a greater protective than therapeutic effect on PPA-induced neurotoxicity in rats, as there was a remarkable amelioration of the impaired biochemically measured parameters representing neurochemical, inflammation, and detoxification processes.
C1 [Alfawaz, Hanan A.] King Saud Univ, Coll Food & Agr Sci, Dept Food Sci & Nutr, Riyadh, Saudi Arabia.
[Al-Ayadhi, Laila] King Saud Univ, Fac Med, Dept Physiol, Autism Res & Treatment Ctr, Riyadh, Saudi Arabia.
[Bhat, Ramesa Shafi; El-Ansary, Afaf K.] King Saud Univ, Coll Sci, Biochem Dept, Riyadh 11495, Saudi Arabia.
[Alfawaz, Hanan A.] King Saud Univ, Coll Sci, Dept Biochem, Prince Mutaib Chair Biomarkers Osteoporosis, Riyadh 11451, Saudi Arabia.
RP El-Ansary, AK (reprint author), King Saud Univ, Coll Sci, Biochem Dept, POB 22452, Riyadh 11495, Saudi Arabia.
EM elansary@ksu.edu.sa
FU "Research Center of the Center for Female Scientific and Medical
Colleges", Deanship of Scientific Research, King Saud University
FX This research project was supported by a grant from the "Research Center
of the Center for Female Scientific and Medical Colleges", Deanship of
Scientific Research, King Saud University.
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Standing Committee on the Scientific Evaluation of Dietary Reference Intakes, 1997, DIET REF INT CALC PH
NR 46
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1472-6882
J9 BMC COMPLEM ALTERN M
JI BMC Complement. Altern. Med.
PD OCT 25
PY 2014
VL 14
AR 416
DI 10.1186/1472-6882-14-416
PG 10
WC Integrative & Complementary Medicine
SC Integrative & Complementary Medicine
GA AX9AW
UT WOS:000347197500002
PM 25344727
ER
PT J
AU Sadowski, RN
Wise, LM
Park, PY
Schantz, SL
Juraska, JM
AF Sadowski, R. N.
Wise, L. M.
Park, P. Y.
Schantz, S. L.
Juraska, J. M.
TI EARLY EXPOSURE TO BISPHENOL A ALTERS NEURON AND GLIA NUMBER IN THE RAT
PREFRONTAL CORTEX OF ADULT MALES, BUT NOT FEMALES
SO NEUROSCIENCE
LA English
DT Article
DE BPA; prefrontal cortex; neuron number; autism; glia number
ID SEXUALLY DIMORPHIC NUCLEUS; SPRAGUE-DAWLEY RATS; DEVELOPMENTAL EXPOSURE;
PERINATAL EXPOSURE; AUTISM SPECTRUM; CEREBRAL-CORTEX; PREOPTIC AREA;
CELL-DEATH; ENVIRONMENTAL ESTROGENS; GESTATIONAL EXPOSURE
AB Previous work has shown that exposure to bisphenol A (BPA) during early development can alter sexual differentiation of the brain in rodents, although few studies have examined effects on areas of the brain associated with cognition. The current study examined if developmental BPA exposure alters the total number of neurons and glia in the medial prefrontal cortex (mPFC) in adulthood. Pregnant Long-Evans rats were orally exposed to 0, 4, 40, or 400-mu g/kg BPA in corn oil throughout pregnancy. From postnatal days 1 to 9, pups were given daily oral doses of oil or BPA, at doses corresponding to those given during gestation. Brains were examined in adulthood, and the volume of layers 213 and layers 5/6 of the mPFC was parcellated. The density of neurons and glia in these layers was quantified stereologically with the optical disector, and density was multiplied by volume for each animal. Males exposed to 400-mu g/kg BPA were found to have increased numbers of neurons and glia in layers 5/6. Although there were no significant effects of BPA in layers 2/3, the pattern of increased neuron number in males exposed to 400-mu g/kg BPA was similar to that seen in layers 5/6. No effects of BPA were seen in females or in males exposed to the other doses of BPA. This study indicates that males are more susceptible to the long-lasting effects of BPA on anatomy of the mPFC, an area implicated in neurological disorders. (c) 2014 IBRO. Published by Elsevier Ltd. All rights reserved.
C1 [Sadowski, R. N.; Schantz, S. L.; Juraska, J. M.] Univ Illinois, Neurosci Program, Champaign, IL 61820 USA.
[Wise, L. M.; Park, P. Y.; Juraska, J. M.] Univ Illinois, Dept Psychol, Champaign, IL 61820 USA.
[Schantz, S. L.] Univ Illinois, Dept Comparat Biosci, Champaign, IL 61820 USA.
RP Juraska, JM (reprint author), Univ Illinois, Psychol Bldg,603 E Daniel St, Champaign, IL 61820 USA.
EM jjuraska@illinois.edu
FU Microscopy Suite at the Beckman Institute; NIEHS [P20 ES 018163, T32
ES007326]; EPA RD [83459301]
FX We thank Nioka Lowly and Wendy Koss for their assistance. We would also
like to thank the Microscopy Suite at the Beckman Institute for support
and use of their facilities ties and Ghazal Naseri Kouzehgarani for help
with the statistics. This work was supported by NIEHS P20 ES 018163, EPA
RD 83459301 Project 4, NIEHS T32 ES007326.
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NR 101
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0306-4522
EI 1873-7544
J9 NEUROSCIENCE
JI Neuroscience
PD OCT 24
PY 2014
VL 279
BP 122
EP 131
DI 10.1016/j.neuroscience.2014.08.038
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AR5ON
UT WOS:000343633800011
PM 25193849
ER
PT J
AU Ben-Ari, Y
AF Ben-Ari, Y.
TI THE GABA EXCITATORY/INHIBITORY DEVELOPMENTAL SEQUENCE: A PERSONAL
JOURNEY
SO NEUROSCIENCE
LA English
DT Review
DE excitation inhibition; developmental sequence; delivery; intracellular
chloride
ID GAMMA-AMINOBUTYRIC-ACID; NEONATAL-RAT HIPPOCAMPUS; TEMPORAL-LOBE
EPILEPSY; NEURONAL CHLORIDE CONCENTRATION; IMPERMEANT ANIONS ESTABLISH;
DENTATE GRANULE CELLS; GIANT DEPOLARIZING POTENTIALS; SPONTANEOUS
RETINAL ACTIVITY; DOPAMINE EVOKED INHIBITION; RECEPTOR-MEDIATED CURRENTS
AB The developing brain is talkative but its language is not that of the adult. Most if not all voltage and transmitter-gated ionic currents follow a developmental sequence and network-driven patterns differ in immature and adult brains. This is best illustrated in studies engaged almost three decades ago in which we observed elevated intracellular chloride (Cl-)(i) levels and excitatory GABA early during development and a perinatal excitatory/inhibitory shift. This sequence is observed in a wide range of brain structures and animal species suggesting that it has been conserved throughout evolution. It is mediated primarily by a developmentally regulated expression of the NKCC1 and KCC2 chloride importer and exporter respectively. The GABAergic depolarization acts in synergy with N-methyl-D-aspartate (NMDA) receptor-mediated and voltage-gated calcium currents to enhance intracellular calcium exerting trophic effects on neuritic growth, migration and synapse formation. These sequences can be deviated in utero by genetic or environmental insults leading to a persistence of immature features in the adult brain. This "neuroarcheology" concept paves the way to novel therapeutic perspectives based on the use of drugs that block immature but not adult currents. This is illustrated notably with the return to immature high levels of chloride and excitatory actions of GABA observed in many pathological conditions. This is due to the fact that in the immature brain a down regulation of KCC2 and an up regulation of NKCC1 are seen. Here, I present a personal history of how an unexpected observation led to novel concepts in developmental neurobiology and putative treatments of autism and other developmental disorders. Being a personal account, this review is neither exhaustive nor provides an update of this topic with all the studies that have contributed to this evolution. We all rely on previous inventors to allow science to advance. Here, I present a personal summary of this topic primarily to illustrate why we often fail to comprehend the implications of our own observations. They remind us - and policy deciders - why Science cannot be programed, requiring time, and risky investigations that raise interesting questions before being translated from bench to bed. Discoveries are always on sideways, never on highways. (c) 2014 The Author. Published by Elsevier Ltd. on behalf of IBRO.
C1 [Ben-Ari, Y.] Autism Grp, F-13273 Marseilles 09, France.
[Ben-Ari, Y.] INSERM, U901, INMED, Neurochlore, F-13273 Marseilles 09, France.
RP Ben-Ari, Y (reprint author), Autism Grp, Campus Sci Luminy,163 Route Luminy, F-13273 Marseilles 09, France.
FU Inserm; ANR; EU; OSEO
FX I am indebted to many of my students and colleagues who have worked on
these programs. Financial support of Inserm - and various public
agencies (ANR, EU, OSEO) - for financial support.
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NR 223
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0306-4522
EI 1873-7544
J9 NEUROSCIENCE
JI Neuroscience
PD OCT 24
PY 2014
VL 279
BP 187
EP 219
DI 10.1016/j.neuroscience.2014.08.001
PG 33
WC Neurosciences
SC Neurosciences & Neurology
GA AR5ON
UT WOS:000343633800016
PM 25168736
ER
PT J
AU Lipton, JO
Sahin, M
AF Lipton, Jonathan O.
Sahin, Mustafa
TI The Neurology of mTOR
SO NEURON
LA English
DT Review
ID TUBEROUS SCLEROSIS COMPLEX; AUTISM SPECTRUM DISORDERS; LONG-TERM
DEPRESSION; FRAGILE-X-SYNDROME; SUPRACHIASMATIC CIRCADIAN CLOCK;
TRANSLATION REPRESSOR 4E-BP2; RAPAMYCIN SIGNALING PATHWAY; TEMPORAL-LOBE
EPILEPSY; EXTENDS LIFE-SPAN; TSC2 GAP ACTIVITY
AB The mechanistic target of rapamycin (mTOR) signaling pathway is a crucial cellular signaling hub that, like the nervous system itself, integrates internal and external cues to elicit critical outputs including growth control, protein synthesis, gene expression, and metabolic balance. The importance of mTOR signaling to brain function is underscored by the myriad disorders in which mTOR pathway dysfunction is implicated, such as autism, epilepsy, and neurodegenerative disorders. Pharmacological manipulation of mTOR signaling holds therapeutic promise and has entered clinical trials for several disorders. Here, we review the functions of mTOR signaling in the normal and pathological brain, highlighting ongoing efforts to translate our understanding of cellular physiology into direct medical benefit for neurological disorders.
C1 [Lipton, Jonathan O.; Sahin, Mustafa] Boston Childrens Hosp, Dept Neurol, Translat Neurosci Ctr, FM Kirby Ctr Neurobiol, Boston, MA 02115 USA.
[Lipton, Jonathan O.] Harvard Univ, Sch Med, Div Sleep Med, Boston, MA 02115 USA.
RP Sahin, M (reprint author), Boston Childrens Hosp, Dept Neurol, Translat Neurosci Ctr, FM Kirby Ctr Neurobiol, Boston, MA 02115 USA.
EM mustafa.sahin@childrens.harvard.edu
FU NIH/NICHD [K08HD071026-03]; NIH [U01 NS082320, P20 NS080199, U54
NS092090, P30 HD018655]; Department of Defense; Tuberous Sclerosis
Alliance; Autism Speaks; Nancy Lurie Marks Family Foundation; Simons
Foundation; Boston Children's Hospital Translational Research Program;
Novartis; Roche; Shire; NCATS; NIMH; NINDS; NICHD
FX We thank Robin Kleiman, Peter Tsai, Duyu Nie, Alessia Di Nardo, and Lara
Boyle for critically reviewing the manuscript. Due to limited space, we
have not quoted all literature in the field, and we apologize to those
whose articles are not referenced. J.L. is funded by NIH/NICHD
K08HD071026-03. Research in the Sahin lab is supported by the NIH (U01
NS082320, P20 NS080199, U54 NS092090, P30 HD018655), Department of
Defense, Tuberous Sclerosis Alliance, Autism Speaks, Nancy Lurie Marks
Family Foundation, Simons Foundation, Boston Children's Hospital
Translational Research Program, Novartis, Roche, and Shire.
Developmental Synaptopathies Consortium (U54 NS092090) is part of the
Rare Disease Clinical Research Network (RDCRN), an initiative of the
Office of Rare Disease Research (ORDR), NCATS, and is funded through
collaboration between NCATS, NIMH, NINDS, and NICHD.
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NR 213
TC 4
Z9 4
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 OCT 22
PY 2014
VL 84
IS 2
BP 275
EP 291
DI 10.1016/j.neuron.2014.09.034
PG 17
WC Neurosciences
SC Neurosciences & Neurology
GA AS3HI
UT WOS:000344167900008
PM 25374355
ER
PT J
AU Smith, KR
Kopeikina, KJ
Fawcett-Patel, JM
Leaderbrand, K
Gao, RQ
Schurmann, B
Myczek, K
Radulovic, J
Swanson, GT
Penzes, P
AF Smith, Katharine R.
Kopeikina, Katherine J.
Fawcett-Patel, Jessica M.
Leaderbrand, Katherine
Gao, Ruoqi
Schuermann, Britta
Myczek, Kristoffer
Radulovic, Jelena
Swanson, Geoffrey T.
Penzes, Peter
TI Psychiatric Risk Factor ANK3/Ankyrin-G Nanodomains Regulate the
Structure and Function of Glutamatergic Synapses
SO NEURON
LA English
DT Article
ID DENDRITIC SPINES; POSTSYNAPTIC DENSITY; BIPOLAR DISORDER; AMPA
RECEPTORS; NEUROPSYCHIATRIC DISORDERS; MOUSE MODELS; PLASTICITY; NECK;
ACTIN; ANK3
AB Recent evidence implicates glutamatergic synapses as key pathogenic sites in psychiatric disorders. Common and rare variants in the ANK3 gene, encoding ankyrin-G, have been associated with bipolar disorder, schizophrenia, and autism. Here we demonstrate that ankyrin-G is integral to AMPAR-mediated synaptic transmission and maintenance of spine morphology. Using superresolution microscopy we find that ankyrin-G forms distinct nanodomain structures within the spine head and neck. At these sites, it modulates mushroom spine structure and function, probably as a perisynaptic scaffold and barrier within the spine neck. Neuronal activity promotes ankyrin-G accumulation in distinct spine subdomains, where it differentially regulates NMDA receptor-dependent plasticity. These data implicate subsynaptic nanodomains containing a major psychiatric risk molecule, ankyrin-G, as having location-specific functions and open directions for basic and translational investigation of psychiatric risk molecules.
C1 [Smith, Katharine R.; Kopeikina, Katherine J.; Fawcett-Patel, Jessica M.; Gao, Ruoqi; Schuermann, Britta; Myczek, Kristoffer; Penzes, Peter] Northwestern Univ, Feinberg Sch Med, Dept Physiol, Chicago, IL 60611 USA.
[Leaderbrand, Katherine; Radulovic, Jelena; Penzes, Peter] Northwestern Univ, Feinberg Sch Med, Dept Psychiat & Behav Sci, Chicago, IL USA.
[Radulovic, Jelena; Swanson, Geoffrey T.] Northwestern Univ, Feinberg Sch Med, Dept Pharmacol, Chicago, IL USA.
RP Penzes, P (reprint author), Northwestern Univ, Feinberg Sch Med, Dept Physiol, Chicago, IL 60611 USA.
EM p-penzes@northwestern.edu
FU Marie Curie Outgoing Postdoctoral Fellowship [302281]; [R01MH071316];
[R01MH097216]; [R01NS071952]; [R01MH078064]
FX This work was supported by R01MH071316, R01MH097216 to P. P.,
R01NS071952 to G. T. S., R01MH078064 to J.R., and a Marie Curie Outgoing
Postdoctoral Fellowship (302281) to K. R. S. We are grateful to Bryan
Copits and Claire Vernon for assistance with electrophysiology, Tristan
Hedrick for help with brain slicing, Vann Bennett for the goat ankyrin-G
Ab, and Karen Zito, Jubao Duan, and members of the P. P. lab for helpful
discussions. We thank NU Nikon Cell Imaging Facility for use of the
N-SIM and spinning-disc confocal and Teng Leong Chew, Constadina
Arvanitis, and Joshua Rappoport for assistance with imaging and
analysis. All experiments involving animals were performed according to
the Institutional Animal Care and Use Committee of NU.
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NR 56
TC 3
Z9 3
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 OCT 22
PY 2014
VL 84
IS 2
BP 399
EP 415
DI 10.1016/j.neuron.2014.10.010
PG 17
WC Neurosciences
SC Neurosciences & Neurology
GA AS3HI
UT WOS:000344167900019
PM 25374361
ER
PT J
AU Li, SO
Wang, JL
Bjorklund, G
Zhao, WN
Yin, CH
AF Li, Si-ou
Wang, Jia-liang
Bjorklund, Geir
Zhao, Wei-na
Yin, Chang-hao
TI Serum copper and zinc levels in individuals with autism spectrum
disorders
SO NEUROREPORT
LA English
DT Article
DE autism spectrum disorders; copper; zinc; zinc; copper ratio
ID DISEASE; CHILDREN; METABOLISM; SELENIUM; SYSTEM; RISK
AB Trace elements play a critical role in the pathogenesis of autism spectrum disorders (ASD). The aim of this study was to investigate the serum levels of zinc (Zn) and copper (Cu) in Chinese children with ASD. Sixty patients (48 males, 12 females) diagnosed with ASD and 60 healthy sex-matched and age-matched control participants were assessed for serum Zn and Cu content at admission. The severity of ASD was also evaluated using the Childhood Autism Rating Scale (CARS) score. The results indicated that the mean serum Zn levels and Zn/Cu ratio were significantly lower in children with ASD compared with normal cases (P<0.001, respectively), whereas serum Cu levels were significantly higher (P<0.001). There was a significant negative association between Zn/Cu and CARS scores (r=-0.345, P=0.007). On the basis of the receiver operating characteristic curve, the optimal cut-off value of serum levels of Zn/Cu as an indicator for an auxiliary diagnosis of autism was projected to be 0.665, which yielded a sensitivity of 90.0% and a specificity of 91.7%; the area under the curve was 0.968 (95% confidence interval, 0.943-0.993). In conclusion, these results suggested an association between serum levels of Zn and Cu and ASD among Chinese patients, and the Zn/Cu ratio could be considered a biomarker of ASD.
C1 [Li, Si-ou; Wang, Jia-liang; Zhao, Wei-na; Yin, Chang-hao] Mudanjiang Med Univ, Hongqi Hosp, Dept Neurol, Mudianjiang 157011, Peoples R China.
[Bjorklund, Geir] Council Nutr & Environm Med, Mo I Rana, Norway.
RP Yin, CH (reprint author), Mudanjiang Med Univ, Hongqi Hosp, Dept Neurol, 5 Tongxiang Rd, Mudianjiang 157011, Peoples R China.
EM yinch1972@163.com
FU National Natural Science Foundation of China [81301188]; Natural Science
Foundation of Heilongjiang Province, China [QC2013C102]; Education
Department of Heilongjiang Province, China [12521579]
FX The project received the National Natural Science Foundation of China
(No. 81301188); the Natural Science Foundation of Heilongjiang Province,
China (No. QC2013C102); and the scientific research project of Education
Department of Heilongjiang Province, China (No. 12521579).
CR Adams JB, 2013, BIOL TRACE ELEM RES, V151, P171, DOI 10.1007/s12011-012-9551-1
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NR 26
TC 4
Z9 4
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0959-4965
EI 1473-558X
J9 NEUROREPORT
JI Neuroreport
PD OCT 22
PY 2014
VL 25
IS 15
BP 1216
EP 1220
DI 10.1097/WNR.0000000000000251
PG 5
WC Neurosciences
SC Neurosciences & Neurology
GA AP8PK
UT WOS:000342340700008
PM 25162784
ER
PT J
AU Roy, B
Ali, DW
AF Roy, Birbickram
Ali, Declan W.
TI Multiple types of GABAA responses identified from zebrafish Mauthner
cells
SO NEUROREPORT
LA English
DT Article
DE GABA; Mauthner cell; synapse; zebrafish
ID RECEPTORS; BRAIN; CURRENTS; NEURONS
AB -Aminobutyric acid (GABA) binds to ionotropic GABA(A) receptors to mediate fast inhibitory synaptic transmission in the central nervous system (CNS). GABA(A) receptors are pentameric structures composed of receptor subunits ((1-6), (1-3), (1-3), , epsilon, , , (1-3)) with various stoichiometries. They play important roles in the control of neural networks and are the pharmacological targets for the treatment of diseases such as epilepsy, autism, and schizophrenia. Thus far, there has been no report on GABA synaptic transmission in developing zebrafish. Here we used whole-cell patch-clamp electrophysiology to record GABA(A)-mediated miniature postsynaptic currents from the Mauthner cells of embryonic zebrafish. Spontaneous GABA(A) currents occurred infrequently and were low in amplitude (27.2 +/- 0.9pA). Analysis of their kinetics suggested the existence of three main types of events: the first (group I) is mediated by a single type of receptor with decay kinetics of 54 +/- 1.6ms; the second (group II) is also mediated by a single receptor type, but exhibits significantly longer decay kinetics (151 +/- 7.2ms); and the third type of synapse (group III) contains multiple receptor types with fast ((1)=28.7 +/- 2.5ms) and slow ((2)=153 +/- 11ms) kinetics. Thus, for the first time, we report the properties of GABA synaptic currents associated with the Mauthner cells of zebrafish.
C1 [Roy, Birbickram; Ali, Declan W.] Univ Alberta, Dept Biol Sci, Edmonton, AB T6G 2E9, Canada.
[Ali, Declan W.] Univ Alberta, Ctr Neurosci, Edmonton, AB T6G 2E9, Canada.
RP Ali, DW (reprint author), Univ Alberta, Dept Biol Sci, Biol Sci Bldg, Edmonton, AB T6G 2E9, Canada.
EM declan.ali@ualberta.ca
FU Natural Sciences and Engineering Research Council of Canada; Canadian
Foundation for Innovation
FX D.W.A. was supported by grants from the Natural Sciences and Engineering
Research Council of Canada and the Canadian Foundation for Innovation.
CR Ali DW, 2000, J NEUROPHYSIOL, V84, P1726
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NR 18
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0959-4965
EI 1473-558X
J9 NEUROREPORT
JI Neuroreport
PD OCT 22
PY 2014
VL 25
IS 15
BP 1232
EP 1236
DI 10.1097/WNR.0000000000000258
PG 5
WC Neurosciences
SC Neurosciences & Neurology
GA AP8PK
UT WOS:000342340700011
PM 25162782
ER
PT J
AU Guillon, Q
Hadjikhani, N
Baduel, S
Kruck, J
Arnaud, M
Roge, B
AF Guillon, Quentin
Hadjikhani, Nouchine
Baduel, Sophie
Kruck, Jeanne
Arnaud, Mado
Roge, Bernadette
TI Both dog and human faces are explored abnormally by young children with
autism spectrum disorders
SO NEUROREPORT
LA English
DT Article
DE autism spectrum disorders; eye-tracking; face perception; hemispheric
lateralization
ID PERCEPTUAL BIASES; EYE-TRACKING; INDIVIDUALS; DURATION; INFANTS; SPEECH
AB When looking at faces, typical individuals tend to have a right hemispheric bias manifested by a tendency to look first toward the left visual hemifield. Here, we tested for the presence of this bias in young children with autism spectrum disorders (ASD) for both human and dog faces. We show that children with ASD do not show a left visual hemifield (right hemispheric) bias for human faces. In addition, we show that this effect extends to faces of dogs, suggesting that the absence of bias is not specific to human faces, but applies to all faces with the first-order configuration, pointing to an anomaly at an early stage of visual analysis of faces. The lack of right hemispheric dominance for face processing may reflect a more general disorder of cerebral specialization of social functions in ASD.
C1 [Guillon, Quentin; Baduel, Sophie; Kruck, Jeanne; Arnaud, Mado; Roge, Bernadette] Univ Toulouse, URI Octogone CERPP, F-31058 Toulouse 9, France.
[Hadjikhani, Nouchine] Harvard Univ, Sch Med, Martinos Ctr Biomed Imaging, MGH,MIT, Charlestown, MA USA.
[Hadjikhani, Nouchine] Gothenburg Univ, Gillberg Neuropsychiat Ctr, S-41124 Gothenburg, Sweden.
RP Guillon, Q (reprint author), Univ Toulouse, URI Octogone CERPP, 5 Allee Antonio Machado, F-31058 Toulouse 9, France.
EM quentin.guillon@univ-tlse2.fr
FU Fondation Orange; ESF COST Action Enhancing the scientific study of
Early Autism (ESSEA) [BM1004]; Rossi Foundation; Chaire d'Excellence
Pierre de Fermat
FX This work was supported by a doctoral scholarship to QG from the
Fondation Orange, by the ESF COST Action BM1004 Enhancing the scientific
study of Early Autism (ESSEA) and by the Rossi Foundation and a Chaire
d'Excellence Pierre de Fermat to N.H.
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NR 24
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0959-4965
EI 1473-558X
J9 NEUROREPORT
JI Neuroreport
PD OCT 22
PY 2014
VL 25
IS 15
BP 1237
EP 1241
DI 10.1097/WNR.0000000000000257
PG 5
WC Neurosciences
SC Neurosciences & Neurology
GA AP8PK
UT WOS:000342340700012
PM 25162783
ER
PT J
AU Nakano, T
Nakatani, K
AF Nakano, Tamami
Nakatani, Kazuko
TI Cortical networks for face perception in two-month-old infants
SO PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
LA English
DT Article
DE S cone; face perception; subcortical network
ID RETINAL GANGLION-CELLS; SPECTRAL SENSITIVITY; SUPERIOR COLLICULUS;
TRITAN STIMULI; AUTISM; PREFERENCE; RESPONSES; PATTERNS; SIGNALS; GAZE
AB Newborns have an innate system for preferentially looking at an upright human face. This face preference behaviour disappears at approximately one month of age and reappears a few months later. However, the neural mechanisms underlying this U-shaped behavioural change remain unclear. Here, we isolate the functional development of the cortical visual pathway for face processing using S-cone-isolating stimulation, which blinds the subcortical visual pathway. Using luminance stimuli, which are conveyed by both the subcortical and cortical visual pathways, the preference for upright faces was not observed in two-month-old infants, but it was observed in four-and six-month-old infants, confirming the recovery phase of the U-shaped development. By contrast, using S-cone stimuli, two-month-old infants already showed a preference for upright faces, as did four-and six-month-old infants, demonstrating that the cortical visual pathway for face processing is already functioning at the bottom of the U-shape at two months of age. The present results suggest that the transient functional deterioration stems from a conflict between the subcortical and cortical functional pathways, and that the recovery thereafter involves establishing a level of coordination between the two pathways.
C1 [Nakano, Tamami; Nakatani, Kazuko] Osaka Univ, Grad Sch Frontiers Biosci, Dynam Brain Network Lab, Suita, Osaka 5650871, Japan.
RP Nakano, T (reprint author), Osaka Univ, Grad Sch Frontiers Biosci, Dynam Brain Network Lab, 1-3 Yamadaoka, Suita, Osaka 5650871, Japan.
EM tamami_nakano@fbs.osaka-u.ac.jp
FU Ministry of Education, Culture, Sports, Science and Technology, Japan
[251195040]
FX This work was supported by the grant in aid for Scientific Research on
Innovative Areas 251195040 'Constructive Developmental Science' from the
Ministry of Education, Culture, Sports, Science and Technology, Japan to
T. N.
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NR 42
TC 1
Z9 1
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 OCT 22
PY 2014
VL 281
IS 1793
DI 10.1098/rspb.2014.1468
PG 5
WC Biology; Ecology; Evolutionary Biology
SC Life Sciences & Biomedicine - Other Topics; Environmental Sciences &
Ecology; Evolutionary Biology
GA AO7VI
UT WOS:000341560300014
ER
PT J
AU Casanova, MF
Hensley, MK
Sokhadze, EM
El-Baz, AS
Wang, Y
Li, XL
Sears, L
AF Casanova, Manuel Fernando
Hensley, Marie K.
Sokhadze, Estate M.
El-Baz, Ayman S.
Wang, Yao
Li, Xiaoli
Sears, Lonnie
TI Effects of weekly low-frequency rTMS on autonomic measures in children
with autism spectrum disorder
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE autism spectrum disorder; TMS; autonomic nervous system;
electrocardiogram; skin conductance
ID TRANSCRANIAL MAGNETIC STIMULATION; HEART-RATE-VARIABILITY;
NERVOUS-SYSTEM; PROCESSING ABNORMALITIES; MAJOR DEPRESSION; PDD-NOS;
TMS; DYSFUNCTION; RESPONSES; BALANCE
AB The term autism spectrum disorder (ASD) describes a range of conditions characterized by impairments in social interactions, communication, and by restricted and repetitive behaviors. Autism spectrum disorder may also present with symptoms suggestive of autonomic nervous system (ANS) dysfunction. The objective of this study was to determine the effect of 18 sessions of low frequency (LF) repetitive transcranial magnetic stimulation (rTMS) on autonomic function in children with ASD by recording electrocardiogram (ECG) and electrodermal activity (EDA) pre- post- and during each rTMS session. The autonomic measures of interest in this study were R-R cardiointervals in EKG (R-R), time and frequency domain measures of heart rate variability (HRV) and skin conductance level (SCL). Heart rate variability measures such as R-R intervals, standard deviation of cardiac intervals, pNN50 (percentage of cardiointervals >50 ms different from preceding interval), power of high frequency (HF) and LF components of HRV spectrum, LF/HF ratio, were then derived from the recorded EKG. We expected that the course of 18 weekly inhibitory LF rTMS applied to the dorsolateral prefrontal cortex (DLPFC) would enhance autonomic balance by facilitating frontal inhibition of limbic activity thus resulting in decreased overall heart rate (HR), increased HRV On a form of increased HF power), decreased LF power (resulting in decreased LF/HF ratio), and decreased SCL. Behavioral evaluations post-18 TMS showed decreased irritability, hyperactivity, stereotype behavior and compulsive behavior ratings while autonomic measures indicated a significant increase in cardiac interval variability and a decrease of tonic SCL. The results suggest that 18 sessions of LF rTMS in ASD results in increased cardiac vagal control and reduced sympathetic arousal.
C1 [Casanova, Manuel Fernando; Sokhadze, Estate M.; El-Baz, Ayman S.; Wang, Yao] Univ Louisville, Dept Psychiat & Behav Sci, Louisville, KY 40202 USA.
[Casanova, Manuel Fernando; Hensley, Marie K.; Sokhadze, Estate M.; El-Baz, Ayman S.] Univ Louisville, Dept Bioengn, Louisville, KY 40202 USA.
[Wang, Yao; Li, Xiaoli] Bejing Normal Univ, Coll Brain & Cognit Neurosci, Beijing, Peoples R China.
[Sears, Lonnie] Univ Louisville, Dept Pediat, Louisville, KY 40202 USA.
RP Casanova, MF (reprint author), Univ Louisville, Dept Psychiat & Behav Sci, 500 South Preston St, Louisville, KY 40202 USA.
EM m0casa02@louisville.edu
FU National Institutes of Health Eureka R01 grant [MH186784]
FX The study was partially supported by National Institutes of Health
Eureka R01 grant MH186784 to Manuel Fernando Casanova, M.D.
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NR 81
TC 1
Z9 1
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 OCT 21
PY 2014
VL 8
AR 851
DI 10.3389/fnhum.2014.00851
PG 11
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AR2HO
UT WOS:000343404700002
PM 25374530
ER
PT J
AU Robinson, EB
Samocha, KE
Kosmicki, JA
McGrath, L
Neale, BM
Perlis, RH
Daly, MJ
AF Robinson, Elise B.
Samocha, Kaitlin E.
Kosmicki, Jack A.
McGrath, Lauren
Neale, Benjamin M.
Perlis, Roy H.
Daly, Mark J.
TI Autism spectrum disorder severity reflects the average contribution of
de novo and familial influences
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
DE neuropsychiatric genetics; epidemiology; heterogeneity; phenotype
ID INTELLECTUAL DISABILITY; PSYCHIATRIC-DISORDERS; GENETIC RISK; MUTATIONS;
INTELLIGENCE; IDENTIFICATION; SCHIZOPHRENIA; EPIDEMIOLOGY; RECURRENCE;
STABILITY
AB Autism spectrum disorders (ASDs) are a highly heterogeneous group of conditions-phenotypically and genetically-although the link between phenotypic variation and differences in genetic architecture is unclear. This study aimed to determine whether differences in cognitive impairment and symptom severity reflect variation in the degree to which ASD cases reflect de novo or familial influences. Using data from more than 2,000 simplex cases of ASD, we examined the relationship between intelligence quotient (IQ), behavior and language assessments, and rate of de novo loss of function (LOF) mutations and family history of broadly defined psychiatric disease (depressive disorders, bipolar disorder, and schizophrenia; history of psychiatric hospitalization). Proband IQ was negatively associated with de novo LOF rate (P = 0.03) and positively associated with family history of psychiatric disease (P = 0.003). Female cases had a higher frequency of sporadic genetic events across the severity distribution (P = 0.01). High rates of LOF mutation and low frequencies of family history of psychiatric illness were seen in individuals who were unable to complete a traditional IQ test, a group with the greatest degree of language and behavioral impairment. These analyses provide strong evidence that familial risk for neuropsychiatric disease becomes more relevant to ASD etiology as cases become higher functioning. The findings of this study reinforce that there are many routes to the diagnostic category of autism and could lead to genetic studies with more specific insights into individual cases.
C1 [Robinson, Elise B.; Samocha, Kaitlin E.; Kosmicki, Jack A.; Neale, Benjamin M.; Daly, Mark J.] Massachusetts Gen Hosp, Dept Med, Analyt & Translat Genet Unit, Boston, MA 02114 USA.
[Robinson, Elise B.; Samocha, Kaitlin E.; Kosmicki, Jack A.; McGrath, Lauren; Neale, Benjamin M.; Perlis, Roy H.; Daly, Mark J.] Harvard Univ, Sch Med, Boston, MA 02114 USA.
[Robinson, Elise B.; Samocha, Kaitlin E.; Kosmicki, Jack A.; Neale, Benjamin M.; Perlis, Roy H.; Daly, Mark J.] Broad Inst Harvard & MIT, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA.
[Robinson, Elise B.; Samocha, Kaitlin E.; Kosmicki, Jack A.; Neale, Benjamin M.; Perlis, Roy H.; Daly, Mark J.] Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA 02142 USA.
[Samocha, Kaitlin E.] Harvard Univ, Sch Med, Program Genet & Genom, Boston, MA 02114 USA.
[Kosmicki, Jack A.] Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA 02115 USA.
[McGrath, Lauren] Amer Univ, Sch Educ Teaching & Hlth, Washington, DC 20016 USA.
[McGrath, Lauren; Perlis, Roy H.] Massachusetts Gen Hosp, Ctr Human Genet Res, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
[McGrath, Lauren; Perlis, Roy H.] Massachusetts Gen Hosp, Dept Psychiat, Boston, MA 02114 USA.
RP Robinson, EB (reprint author), Massachusetts Gen Hosp, Dept Med, Analyt & Translat Genet Unit, Boston, MA 02114 USA.
EM erobinson@atgu.mgh.harvard.edu
FU National Institutes of Mental Health [1K01MH099286-01A1]
FX We thank the families who took part in the Simons Simplex Collection
study and the clinicians who collected data at each of the study sites.
E. B. R. was funded by National Institutes of Mental Health Grant
1K01MH099286-01A1.
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NR 47
TC 1
Z9 1
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 OCT 21
PY 2014
VL 111
IS 42
BP 15161
EP 15165
DI 10.1073/pnas.1409204111
PG 5
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AR0YN
UT WOS:000343302600056
PM 25288738
ER
PT J
AU Sinha, P
Kjelgaard, MM
Gandhi, TK
Tsourides, K
Cardinaux, AL
Pantazis, D
Diamond, SP
Held, RM
AF Sinha, Pawan
Kjelgaard, Margaret M.
Gandhi, Tapan K.
Tsourides, Kleovoulos
Cardinaux, Annie L.
Pantazis, Dimitrios
Diamond, Sidney P.
Held, Richard M.
TI Autism as a disorder of prediction
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
DE probabilistic processing; endophenotype; Markov models; theory;
heterogeneity
ID EYED VISUAL-ACUITY; SPECTRUM DISORDERS; BASAL GANGLIA; FUNCTIONING
AUTISM; ASPERGER-SYNDROME; MOTOR CONTROL; ANIMAL-MODEL; MUTANT MICE;
CHILDREN; BEHAVIOR
AB A rich collection of empirical findings accumulated over the past three decades attests to the diversity of traits that constitute the autism phenotypes. It is unclear whether subsets of these traits share any underlying causality. This lack of a cohesive conceptualization of the disorder has complicated the search for broadly effective therapies, diagnostic markers, and neural/genetic correlates. In this paper, we describe how theoretical considerations and a review of empirical data lead to the hypothesis that some salient aspects of the autism phenotype may be manifestations of an underlying impairment in predictive abilities. With compromised prediction skills, an individual with autism inhabits a seemingly "magical" world wherein events occur unexpectedly and without cause. Immersion in such a capricious environment can prove overwhelming and compromise one's ability to effectively interact with it. If validated, this hypothesis has the potential of providing unifying insights into multiple aspects of autism, with attendant benefits for improving diagnosis and therapy.
C1 [Sinha, Pawan; Kjelgaard, Margaret M.; Gandhi, Tapan K.; Tsourides, Kleovoulos; Cardinaux, Annie L.; Pantazis, Dimitrios; Diamond, Sidney P.; Held, Richard M.] MIT, Dept Brain & Cognit Sci, Cambridge, MA 02139 USA.
[Kjelgaard, Margaret M.] Massachusetts Gen Hosp, Inst Hlth Profess, Dept Commun Sci & Disorders, Boston, MA 02129 USA.
[Gandhi, Tapan K.] Def Inst Physiol & Allied Sci, Dept Biomed Engn, New Delhi 110054, India.
RP Held, RM (reprint author), MIT, Dept Brain & Cognit Sci, E25-618, Cambridge, MA 02139 USA.
EM heldd@neco.edu
FU Simons Center for the Social Brain at Massachusetts Institute of
Technology; Simons Foundation for Autism Research
FX We thank Drs. Helen Tager-Flusberg, Charles Nelson, and Geraldine Dawson
for discussions and several parents of children with autism for
comments. This work was supported by the Simons Center for the Social
Brain at Massachusetts Institute of Technology and by the Simons
Foundation for Autism Research.
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NR 110
TC 1
Z9 1
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 OCT 21
PY 2014
VL 111
IS 42
BP 15220
EP 15225
DI 10.1073/pnas.1416797111
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AR0YN
UT WOS:000343302600066
PM 25288765
ER
PT J
AU Sugathan, A
Biagioli, M
Golzio, C
Erdin, S
Blumenthal, I
Manavalan, P
Ragavendran, A
Brand, H
Lucente, D
Miles, J
Sheridan, SD
Stortchevoi, A
Kellis, M
Haggarty, SJ
Katsanis, N
Gusella, JF
Talkowski, ME
AF Sugathan, Aarathi
Biagioli, Marta
Golzio, Christelle
Erdin, Serkan
Blumenthal, Ian
Manavalan, Poornima
Ragavendran, Ashok
Brand, Harrison
Lucente, Diane
Miles, Judith
Sheridan, Steven D.
Stortchevoi, Alexei
Kellis, Manolis
Haggarty, Stephen J.
Katsanis, Nicholas
Gusella, James F.
Talkowski, Michael E.
TI CHD8 regulates neurodevelopmental pathways associated with autism
spectrum disorder in neural progenitors
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
DE CHD8; NPCs; RNA-seq; ChIP-seq; autism
ID DE-NOVO MUTATIONS; CANCER GENES; NETWORK; SCHIZOPHRENIA; CHROMATIN;
CHILDREN; KNOWLEDGEBASE; PREDICTION; GENETICS; REGIONS
AB Truncating mutations of chromodomain helicase DNA-binding protein 8 (CHD8), and of many other genes with diverse functions, are strong-effect risk factors for autism spectrum disorder (ASD), suggesting multiple mechanisms of pathogenesis. We explored the transcriptional networks that CHD8 regulates in neural progenitor cells (NPCs) by reducing its expression and then integrating transcriptome sequencing (RNA sequencing) with genome-wide CHD8 binding (ChIP sequencing). Suppressing CHD8 to levels comparable with the loss of a single allele caused altered expression of 1,756 genes, 64.9% of which were up-regulated. CHD8 showed widespread binding to chromatin, with 7,324 replicated sites that marked 5,658 genes. Integration of these data suggests that a limited array of direct regulatory effects of CHD8 produced a much larger network of secondary expression changes. Genes indirectly down-regulated (i.e., without CHD8-binding sites) reflect pathways involved in brain development, including synapse formation, neuron differentiation, cell adhesion, and axon guidance, whereas CHD8-bound genes are strongly associated with chromatin modification and transcriptional regulation. Genes associated with ASD were strongly enriched among indirectly down-regulated loci (P < 10(-8)) and CHD8-bound genes (P = 0.0043), which align with previously identified coexpression modules during fetal development. We also find an intriguing enrichment of cancer-related gene sets among CHD8-bound genes (P < 10(-10)). In vivo suppression of chd8 in zebrafish produced macrocephaly comparable to that of humans with inactivating mutations. These data indicate that heterozygous disruption of CHD8 precipitates a network of gene-expression changes involved in neurodevelopmental pathways in which many ASD-associated genes may converge on shared mechanisms of pathogenesis.
C1 [Sugathan, Aarathi; Biagioli, Marta; Erdin, Serkan; Blumenthal, Ian; Manavalan, Poornima; Ragavendran, Ashok; Brand, Harrison; Lucente, Diane; Sheridan, Steven D.; Stortchevoi, Alexei; Haggarty, Stephen J.; Gusella, James F.; Talkowski, Michael E.] Massachusetts Gen Hosp, Ctr Human Genet Res, Mol Neurogenet Unit, Boston, MA 02114 USA.
[Sugathan, Aarathi; Erdin, Serkan; Blumenthal, Ian; Ragavendran, Ashok; Brand, Harrison; Sheridan, Steven D.; Stortchevoi, Alexei; Haggarty, Stephen J.; Talkowski, Michael E.] Massachusetts Gen Hosp, Ctr Human Genet Res, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
[Sugathan, Aarathi; Biagioli, Marta; Brand, Harrison; Sheridan, Steven D.; Haggarty, Stephen J.; Talkowski, Michael E.] Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USA.
[Gusella, James F.] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA.
[Golzio, Christelle; Katsanis, Nicholas] Duke Univ, Ctr Human Dis Modeling, Durham, NC 27710 USA.
[Katsanis, Nicholas] Duke Univ, Dept Cell Biol, Durham, NC 27710 USA.
[Miles, Judith] Univ Missouri Hosp & Clin, Thompson Ctr Autism & Neurodev Disorders, Dept Pediat, Columbia, MO 65201 USA.
[Miles, Judith] Univ Missouri Hosp & Clin, Thompson Ctr Autism & Neurodev Disorders, Dept Med Genet, Columbia, MO 65201 USA.
[Miles, Judith] Univ Missouri Hosp & Clin, Thompson Ctr Autism & Neurodev Disorders, Dept Pathol, Columbia, MO 65201 USA.
[Kellis, Manolis] MIT, Comp Sci & Artificial Intelligence Lab, Cambridge, MA 02139 USA.
[Kellis, Manolis; Haggarty, Stephen J.; Gusella, James F.; Talkowski, Michael E.] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.
RP Talkowski, ME (reprint author), Massachusetts Gen Hosp, Ctr Human Genet Res, Mol Neurogenet Unit, Boston, MA 02114 USA.
EM talkowski@chgr.mgh.harvard.edu
RI Erdin, Serkan/B-4988-2008
OI Erdin, Serkan/0000-0001-6587-2625
FU Simons Foundation for Autism Research; Nancy Lurie Marks Family
Foundation; NIH [MH095867, MH095088, GM061354]; March of Dimes; Charles
Hood Foundation; Brain and Behavioral Research Foundation; Autism
Genetic Resource Exchange; Autism Speaks; Pitt-Hopkins Research
Foundation
FX We thank Dr. Anshul Kundaje of Stanford University and the NIH Roadmap
Epigenomics Consortium (nihroadmap.nih.gov/epigenomics/) for providing
chromatin state data. This research was supported by the Simons
Foundation for Autism Research, the Nancy Lurie Marks Family Foundation,
NIH Grants MH095867, MH095088, and GM061354, the March of Dimes, Charles
Hood Foundation, the Brain and Behavioral Research Foundation, the
Autism Genetic Resource Exchange, Autism Speaks, and Pitt-Hopkins
Research Foundation. N.K. is a Distinguished Bromley Professor.
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NR 55
TC 6
Z9 6
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 OCT 21
PY 2014
VL 111
IS 42
BP E4468
EP E4477
DI 10.1073/pnas.1405266111
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AR0YN
UT WOS:000343302600012
PM 25294932
ER
PT J
AU Cockain, A
AF Cockain, Alex
TI Becoming quixotic? A discussion on the discursive construction of
disability and how this is maintained through social relations
SO DISABILITY & SOCIETY
LA English
DT Article
DE discourse; self-subjectifying practices; social relations; severe
learning difficulties; classification
ID AUTISM
AB Using an autoethnographic approach, this paper focuses upon interactions between 'Paul' (a pseudonym), whose symptoms associated with 'severe learning difficulties' are such that he is positioned on the low-functioning end of the autistic spectrum, his carers and others, in spaces taken for granted to be 'public' in both the United Kingdom and Hong Kong. This paper examines how social discourses relating to disability filter into social interactions, ultimately constructing the symptoms they purport to represent. This paper concludes by highlighting how interactions might be viewed as enabling rather than disabling, as producing spaces for thinking about the human condition.
C1 Hong Kong Polytech Univ, Dept Appl Social Sci, Hong Kong, Hong Kong, Peoples R China.
RP Cockain, A (reprint author), Hong Kong Polytech Univ, Dept Appl Social Sci, Hong Kong, Hong Kong, Peoples R China.
EM alex.cockain@polyu.edu.hk
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NR 48
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0968-7599
EI 1360-0508
J9 DISABIL SOC
JI Disabil. Soc.
PD OCT 21
PY 2014
VL 29
IS 9
BP 1473
EP 1485
DI 10.1080/09687599.2014.953245
PG 13
WC Rehabilitation; Social Sciences, Interdisciplinary
SC Rehabilitation; Social Sciences - Other Topics
GA AQ1AQ
UT WOS:000342514200010
ER
PT J
AU Mosher, CP
Zimmerman, PE
Gothard, KM
AF Mosher, Clayton P.
Zimmerman, Prisca E.
Gothard, Katalin M.
TI Neurons in the Monkey Amygdala Detect Eye Contact during Naturalistic
Social Interactions
SO CURRENT BIOLOGY
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; PRIMATE AMYGDALA; MACACA-MULATTA; FACIAL
EXPRESSIONS; RECEPTIVE-FIELDS; SINGLE NEURONS; RESPONSES; CORTEX; FACES;
ATTENTION
AB Primates explore the visual world through eye-movement sequences. Saccades bring details of interest into the fovea, while fixations stabilize the image [1]. During natural vision, social primates direct their gaze at the eyes of others to communicate their own emotions and intentions and to gather information about the mental states of others [2]. Direct gaze is an integral part of facial expressions that signals cooperation or conflict over resources and social status [3-6]. Despite the great importance of making and breaking eye contact in the behavioral repertoire of primates, little is known about the neural substrates that support these behaviors. Here we show that the monkey amygdala contains neurons that respond selectively to fixations on the eyes of others and to eye contact. These "eye cells" share several features with the canonical, visually responsive neurons in the monkey amygdala; however, they respond to the eyes only when they fall within the fovea of the viewer, either as a result of a deliberate saccade or as eyes move into the fovea of the viewer during a fixation intended to explore a different feature. The presence of eyes in peripheral vision fails to activate the eye cells. These findings link the primate amygdala to eye movements involved in the exploration and selection of details in visual scenes that contain socially and emotionally salient features.
C1 [Mosher, Clayton P.] Univ Arizona, Grad Interdisciplinary Program Neurosci, Tucson, AZ 85724 USA.
[Zimmerman, Prisca E.; Gothard, Katalin M.] Univ Arizona, Coll Med, Dept Physiol, Tucson, AZ 85724 USA.
RP Gothard, KM (reprint author), Univ Arizona, Coll Med, Dept Physiol, Tucson, AZ 85724 USA.
EM gothard94@gmail.com
FU NSF graduate research fellowship; [R21 NIMH 086065]; [P50MH100023]
FX We thank Lisa Parr for sharing with us her video footage from Cayo
Santiago. We thank Miranda Anderson, Susma Ghimire, and Daniel Hill for
scoring ethograms that document the behavior of the viewers and the
movie monkeys. We thank C.J. Doane and the UAC animal care stuff for
outstanding veterinary care and support. Lastly, we thank Andy Fuglevand
and Ralph Adolphs for comments on the manuscript. This work was
supported by R21 NIMH 086065 and P50MH100023 to K.M.G. and an NSF
graduate research fellowship to C.P.M.
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NR 44
TC 3
Z9 3
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0960-9822
EI 1879-0445
J9 CURR BIOL
JI Curr. Biol.
PD OCT 20
PY 2014
VL 24
IS 20
BP 2459
EP 2464
DI 10.1016/j.cub.2014.08.063
PG 6
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA AS0HQ
UT WOS:000343959000029
PM 25283782
ER
PT J
AU Wilson, E
AF Wilson, Elizabeth
TI BROCCOLI FOR AUTISM SYMPTOMS
SO CHEMICAL & ENGINEERING NEWS
LA English
DT News Item
NR 0
TC 0
Z9 0
PU AMER CHEMICAL SOC
PI WASHINGTON
PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA
SN 0009-2347
EI 1520-605X
J9 CHEM ENG NEWS
JI Chem. Eng. News
PD OCT 20
PY 2014
VL 92
IS 42
BP 11
EP 11
PG 1
WC Chemistry, Multidisciplinary; Engineering, Chemical
SC Chemistry; Engineering
GA AR0QW
UT WOS:000343277400016
ER
PT J
AU Bitsika, V
Sharpley, CF
AF Bitsika, Vicki
Sharpley, Christopher F.
TI Which psychological resilience attributes are associated with lower
aspects of anxiety in boys with an autism spectrum disorder?
Implications for guidance and counselling interventions
SO BRITISH JOURNAL OF GUIDANCE & COUNSELLING
LA English
DT Article
DE treatment; autism; resilience; anxiety
ID HIGH-FUNCTIONING CHILDREN; PERVASIVE DEVELOPMENTAL DISORDERS;
ASPERGER-SYNDROME; SOCIAL ANXIETY; STRESS; ADOLESCENTS; PSYCHOPATHOLOGY;
STRENGTHS; SYMPTOMS
AB The effect of psychological resilience as a buffer against anxiety was investigated in a sample of 39 boys with high-functioning autism spectrum disorder (ASD) via individual online questionnaire responses to standardised inventories for assessing anxiety and psychological resilience. Ability to handle problems, make good decisions, think before acting and help others were the most powerful buffers against Generalised Anxiety Disorder, while thinking before acting significantly buffered social phobia. Believing that they were able to handle problems was significantly associated with less emotional anxiety about school, work or social activities, being irritable, unable to relax and fatigue. As well as describing the pathways between the components of psychological resilience and anxiety, these findings also suggest several specific directions for training programmes aimed at equipping boys with an ASD with skills to cope more effectively with anxiety.
C1 [Bitsika, Vicki; Sharpley, Christopher F.] Bond Univ, Ctr Autism Spectrum Disorders, Robina, Qld, Australia.
[Sharpley, Christopher F.] Univ New England, Brain Behav Res Grp, Armidale, NSW, Australia.
RP Sharpley, CF (reprint author), Bond Univ, Ctr Autism Spectrum Disorders, Univ Dr, Robina, Qld, Australia.
EM csharpley@onthenet.com.au
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NR 38
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0306-9885
EI 1469-3534
J9 BRIT J GUID COUNS
JI Brit. J. Guid. Couns.
PD OCT 20
PY 2014
VL 42
IS 5
BP 544
EP 556
DI 10.1080/03069885.2014.931929
PG 13
WC Psychology, Applied
SC Psychology
GA AQ4XP
UT WOS:000342804900007
ER
PT J
AU Hur, Y
Han, SB
Kang, SW
Lee, Y
AF Hur, Yeoun
Han, Sang Beom
Kang, Seung Woo
Lee, Youngshin
TI Quantitative Analysis of Porphyrins in Dried Blood Spots Using Liquid
Chromatography-tandem Mass Spectrometry with Pre-column Derivatization
SO BULLETIN OF THE KOREAN CHEMICAL SOCIETY
LA English
DT Article
DE Porphyrins; Liquid chromatography-tandem mass spectrometry; Dried blood
spot; Esterification; ASD (Autism Spectrum Disorder)
ID URINARY PORPHYRINS; PROFILES; AUTISM
C1 [Hur, Yeoun; Kang, Seung Woo; Lee, Youngshin] Int Sci Stand Inc, R&D Inst, Gangwon Do 200161, South Korea.
[Hur, Yeoun; Han, Sang Beom] Chung Ang Univ, Coll Pharm, Dept Pharmaceut Anal, Seoul 156756, South Korea.
RP Hur, Y (reprint author), Int Sci Stand Inc, R&D Inst, Gangwon Do 200161, South Korea.
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PA 635-4 YEOGSAM-DONG, KANGNAM-GU, SEOUL 135-703, SOUTH KOREA
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JI Bull. Korean Chem. Soc.
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EP 3106
DI 10.5012/bkcs.2014.35.10.3103
PG 4
WC Chemistry, Multidisciplinary
SC Chemistry
GA AQ5NT
UT WOS:000342856600043
ER
PT J
AU Morgan, JT
Barger, N
Amaral, DG
Schumann, CM
AF Morgan, John T.
Barger, Nicole
Amaral, David G.
Schumann, Cynthia M.
TI Stereological Study of Amygdala Glial Populations in Adolescents and
Adults with Autism Spectrum Disorder
SO PLOS ONE
LA English
DT Article
ID MAJOR DEPRESSIVE DISORDER; TUMOR-NECROSIS-FACTOR; MICROGLIAL ACTIVATION;
IMMUNE-RESPONSE; POSTNATAL-DEVELOPMENT; INFANTILE-AUTISM; NEURAL
CIRCUITRY; FETAL-BRAIN; CHILDREN; FACE
AB The amygdala undergoes aberrant development in autism spectrum disorder (ASD). We previously found that there are reduced neuron numbers in the adult postmortem amygdala from individuals with ASD compared to typically developing controls. The current study is a comprehensive stereological examination of four non-neuronal cell populations: microglia, oligodendrocytes, astrocytes, and endothelial cells, in the same brains studied previously. We provide a detailed neuroanatomical protocol for defining each cell type that may be applied to other studies of the amygdala in neurodevelopmental and psychiatric disorders. We then assess whether cell numbers and average volumes differ between ASD and typically developing brains. We hypothesized that a reduction in neuron numbers in ASD might relate to altered immune function and/or aberrant microglial activation, as indicated by increased microglial number and cell body volume. Overall, average non-neuronal cell numbers and volumes did not differ between ASD and typically developing brains. However, there was evident heterogeneity within the ASD cohort. Two of the eight ASD brains displayed strong microglial activation. Contrary to our original hypothesis, there was a trend toward a positive correlation between neuronal and microglial numbers in both ASD and control cases. There were fewer oligodendrocytes in the amygdala of adult individuals with ASD ages 20 and older compared to typically developing controls. This finding may provide a possible sign of altered connectivity or impaired neuronal communication that may change across the lifespan in ASD.
C1 [Schumann, Cynthia M.] Univ Calif Davis, Dept Psychiat & Behav Sci, Sacramento, CA 95817 USA.
Univ Calif Davis, MIND Inst, Sacramento, CA 95817 USA.
RP Schumann, CM (reprint author), Univ Calif Davis, Dept Psychiat & Behav Sci, Sacramento, CA 95817 USA.
EM cschumann@ucdavis.edu
FU National Institutes of Health [R01 MH41479, R01 MH097236, F32 MH088275];
Brain & Behavior Research Foundation NARSAD grant
FX This work was supported by the National Institutes of Health
(http://www.nih.gov) grants R01 MH41479, R01 MH097236, and F32 MH088275
and by a Brain & Behavior Research Foundation
(http://www.bbrfoundation.org) NARSAD grant. 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 64
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 OCT 17
PY 2014
VL 9
IS 10
AR e110356
DI 10.1371/journal.pone.0110356
PG 14
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AT8TF
UT WOS:000345204100067
PM 25330013
ER
PT J
AU Tan, LBG
Lo, BCY
Macrae, CN
AF Tan, Lucy B. G.
Lo, Barbara C. Y.
Macrae, C. Neil
TI Brief Mindfulness Meditation Improves Mental State Attribution and
Empathizing
SO PLOS ONE
LA English
DT Article
ID MIND; MECHANISMS; ATTENTION; AUTISM
AB The ability to infer and understand the mental states of others (i.e., Theory of Mind) is a cornerstone of human interaction. While considerable efforts have focused on explicating when, why and for whom this fundamental psychological ability can go awry, considerably less is known about factors that may enhance theory of mind. Accordingly, the current study explored the possibility that mindfulness-based meditation may improve people's mindreading skills. Following a 5-minute mindfulness induction, participants with no prior meditation experience completed tests that assessed mindreading and empathic understanding. The results revealed that brief mindfulness meditation enhanced both mental state attribution and empathic concern, compared to participants in the control group. These findings suggest that mindfulness may be a powerful technique for facilitating core aspects of social-cognitive functioning.
C1 [Tan, Lucy B. G.] Univ Queensland, Sch Med, Psychiat Discipline, Brisbane, Qld, Australia.
[Lo, Barbara C. Y.] Univ Hong Kong, Dept Psychol, Hong Kong, Hong Kong, Peoples R China.
[Macrae, C. Neil] Univ Aberdeen, Sch Psychol, Aberdeen AB9 1FX, Scotland.
RP Tan, LBG (reprint author), Univ Queensland, Sch Med, Psychiat Discipline, Brisbane, Qld, Australia.
EM lucy.tan@uq.edu.au
FU Australia Prime Minister's Endeavour Asia Award
FX LBGT was supported by an Australia Prime Minister's Endeavour Asia
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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NR 32
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 17
PY 2014
VL 9
IS 10
AR e110510
DI 10.1371/journal.pone.0110510
PG 5
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AT8TF
UT WOS:000345204100086
PM 25329321
ER
PT J
AU Dumas, G
Soussignan, R
Hugueville, L
Martinerie, J
Nadel, J
AF Dumas, Guillaume
Soussignan, Robert
Hugueville, Laurent
Martinerie, Jacques
Nadel, Jacqueline
TI Revisiting mu suppression in autism spectrum disorder
SO BRAIN RESEARCH
LA English
DT Article
DE Mu-suppression; EEG; Autism spectrum disorder; Action observation;
Top-down inhibitory control
ID MIRROR-NEURON SYSTEM; DEFAULT MODE NETWORK; EEG ALPHA OSCILLATIONS;
CORTICAL ACTIVATION; SOCIAL COORDINATION; INHIBITORY CONTROL; BAND
OSCILLATIONS; MEG-DATA; BRAIN; IMITATION
AB Two aspects of the EEG literature lead us to revisit mu suppression in Autism Spectrum Disorder (ASD). First and despite the fact that the mu rhythm can be functionally segregated in two discrete sub-bands, 8-10 Hz and 10-12/13 Hz, mu-suppression in ASD has been analyzed as a homogeneous phenomenon covering the 8-13 Hz frequency. Second and although alpha-like activity is usually found across the entire scalp, ASD studies of action observation have focused on the central electrodes (C3/C4). The present study was aimed at testing on the whole brain the hypothesis of a functional dissociation of mu and alpha responses to the observation of human actions in ASD according to bandwidths. Electroencephalographic (EEG) mu and alpha responses to execution and observation of hand gestures were recorded on the whole scalp in high functioning subjects with ASD and typical subjects. When two bandwidths of the alpha-mu 8-13 Hz were distinguished, a different mu response to observation appeared for subjects with ASD in the upper sub-band over the sensorimotor cortex, whilst the lower sub-band responded similarly in the two groups. Source reconstructions demonstrated that this effect was related to a joint mu-suppression deficit over the occipito-parietal regions and an increase over the frontal regions. These findings suggest peculiarities in top-down response modulation in ASD and question the claim of a global dysfunction of the MNS in autism. This research also advocates for the use of finer grained analyses at both spatial and spectral levels for future directions in neurophysiological accounts of autism. (C) 2014 Published by Elsevier B.V.
C1 [Dumas, Guillaume; Hugueville, Laurent; Martinerie, Jacques; Nadel, Jacqueline] CNRS, UMR 7225, Paris, France.
[Dumas, Guillaume; Hugueville, Laurent; Martinerie, Jacques] INSERM, U1227, Paris, France.
[Dumas, Guillaume; Hugueville, Laurent; Martinerie, Jacques; Nadel, Jacqueline] Inst Cerveau & Moelle Epiniere, Paris, France.
[Dumas, Guillaume; Hugueville, Laurent; Martinerie, Jacques; Nadel, Jacqueline] Univ Paris 04, UPMC, UMR S1127, Paris, France.
[Dumas, Guillaume; Hugueville, Laurent] INRIA Paris Rocquencourt, ARAMIS Team, Paris, France.
[Soussignan, Robert] Univ Bourgogne Inra, UMR 6265, CNRS, Ctr Sci Gout & Alimentat, Dijon, France.
RP Dumas, G (reprint author), Inst Pasteur, 25 Rue Docteur Roux, F-75015 Paris, France.
EM guillaume.dumas@pasteur.fr; jacqueline.nadel@upmc.fr
FU Orange Foundation for Autism Spectrum Disorder
FX We thank Florence Bouchet for her generous assistance in the EEG
preparation, Mario Chavez for helpful comments in EEG analysis, and
Lionel Thivard for his medical assistance. The work of Guillaume Dumas
was supported by a postdoctoral grant of the Orange Foundation for
Autism Spectrum Disorder.
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American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 99
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD OCT 17
PY 2014
VL 1585
BP 108
EP 119
DI 10.1016/j.brainres.2014.08.035
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AR8QS
UT WOS:000343840300011
PM 25148709
ER
PT J
AU Gannon, RL
AF Gannon, Robert L.
TI Non-peptide oxytocin receptor ligands and hamster circadian wheel
running rhythms
SO BRAIN RESEARCH
LA English
DT Article
DE Autism; Anxiety; Depression; Schizophrenia; Biological rhythms
ID SUPRACHIASMATIC NUCLEUS; THERAPEUTIC IMPLICATIONS; SYRIAN-HAMSTERS;
VASOPRESSIN; IMMUNOREACTIVITY; HYPOTHALAMUS; BRAIN; RAT; ORGANIZATION;
POLYPEPTIDE
AB The synchronization of circadian rhythms in sleep, endocrine and metabolic functions with the environmental light cycle is essential for health, and dysfunction of this synchrony is thought to play a part in the development of many neurological disorders. There is a demonstrable need to develop new therapeutics for the treatment of neurological disorders such as depression and schizophrenia, and oxytocin is currently being investigated for this purpose. There are no published reports describing activity of oxytocin receptor ligands on mammalian circadian rhythms and that, then, is the purpose of this study. Non-peptide oxytocin receptor ligands that cross the blood brain barrier were systemically injected in hamsters to determine their ability to modulate light-induced phase advances and delays of circadian wheel running rhythms. The oxytocin receptor agonist WAY267464 (10 mg/kg) inhibited light induced phase advances of wheel running rhythms by 55%, but had no effect on light-induced phase delays. In contrast, the oxytocin receptor antagonist WAY162720 (10 mg/kg) inhibited light-induced phase delays by nearly 75%, but had no effect on light-induced phase advances. Additionally, WAY162720 was able to antagonize the inhibitory effects of WAY267464 on light-induced phase advances. These results are consistent for a role of oxytocin in the phase-delaying effects of light on circadian activity rhythms early in the night. Therefore, oxytocin may prove to be useful in developing therapeutics for the treatment of mood disorders with a concomitant dysfunction in circadian rhythms. Investigators should also be cognizant that oxytocin ligands may negatively affect circadian rhythms during clinical trials for other conditions. (C) 2014 Elsevier B.V. All rights reserved.
C1 Valdosta State Univ, Dept Biol, Valdosta, GA 31698 USA.
RP Gannon, RL (reprint author), Valdosta State Univ, Dept Biol, Valdosta, GA 31698 USA.
EM rlgannon@valdosta.edu
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NR 33
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD OCT 17
PY 2014
VL 1585
BP 184
EP 190
DI 10.1016/j.brainres.2014.08.034
PG 7
WC Neurosciences
SC Neurosciences & Neurology
GA AR8QS
UT WOS:000343840300018
PM 25148710
ER
PT J
AU Takara, K
Kondo, T
AF Takara, Kiyoharu
Kondo, Tsuyoshi
TI Comorbid atypical autistic traits as a potential risk factor for suicide
attempts among adult depressed patients: a case-control study
SO ANNALS OF GENERAL PSYCHIATRY
LA English
DT Article
DE Autism spectrum disorder; Adult; Atypical; Depressive episode; Suicide
attempt; Risk factor; Pervasive developmental disorder-not otherwise
specified; Suicide methods
ID SPECTRUM DISORDERS; PSYCHIATRIC COMORBIDITY; ASPERGERS SYNDROME;
FUNCTIONING AUTISM; CLINICAL-FEATURES; COMPLETED SUICIDE; YOUNG-ADULTS;
PDD-NOS; CHILDREN; ADOLESCENTS
AB Background: The present study aims to examine if autism spectrum disorder (ASD) is a risk factor for suicide attempts among adult depressed patients and to elucidate the characteristics of suicide attempts in adult depressed patients with ASD.
Methods: We conducted a case-control study. Subjects consisted of 336 retrospectively recruited first-time visit patients to our outpatient clinic with a current major depressive episode; 31 of the 336 patients had attempted suicide. The demographic backgrounds (i.e., age, gender, personal/family history of suicidality); specific psychopathology like bipolarity, agitation, and psychotic features; and comorbidity such as physical diseases, alcohol abuse, cluster B personality disorder, and ASD including pervasive developmental disorder not otherwise specified (PDD-NOS) were examined as potential risk factors for suicide attempts. We compared these variables between the suicide attempters and non-attempters. In addition, we compared suicide attempters to non-attempters within the ASD group and non-ASD group. Binary logistic regression analysis was performed using the significant independent variables from the comparisons between the suicide attempters and non-attempters, and the odds ratios (OR) and 95% confidence intervals (CI) were calculated.
Results: Logistic regression analysis demonstrated that agitation during a depressive episode (OR = 7.15, 95% CI = 2.88-17.74), past suicidal behaviors (OR = 4.32, 95% CI = 1.70-10.98), and comorbid PDD-NOS (OR = 4.04, 95% CI = 1.20-13.54) were significantly associated with suicide attempts. The most prevalent suicidal method was drug overdose (59.1%) among non-ASD attempters while hanging was the most prevalent (44.4%) in ASD attempters.
Conclusions: Depressed adults with comorbid atypical autistic traits are at higher risk for suicide attempts and may engage in methods that are more lethal.
C1 [Takara, Kiyoharu; Kondo, Tsuyoshi] Univ Ryukyus, Grad Sch Med, Dept Neuropsychiat, Nishihara, Okinawa 9030215, Japan.
RP Takara, K (reprint author), Univ Ryukyus, Grad Sch Med, Dept Neuropsychiat, 207 Uehara, Nishihara, Okinawa 9030215, Japan.
EM takarakiyo1018@gmail.com
FU Japanese Ministry of Education, Culture, Sports, Science and Technology
[25461736]
FX We are grateful to our patients and their parents for their voluntary
participation in our study and warm collaboration with us. This study
was supported by Grants-in-Aid from the Japanese Ministry of Education,
Culture, Sports, Science and Technology (25461736).
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NR 60
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1744-859X
J9 ANN GEN PSYCHIATR
JI Ann. Gen. Psychiatr.
PD OCT 16
PY 2014
VL 13
AR 33
DI 10.1186/s12991-014-0033-z
PG 8
WC Psychiatry
SC Psychiatry
GA CB5ZE
UT WOS:000349705700001
PM 25328535
ER
PT J
AU Taylor, AE
Lee, HE
Buisman-Pijlman, FTA
AF Taylor, Adrienne E.
Lee, Hsu-en
Buisman-Pijlman, Femke T. A.
TI Oxytocin treatment in pediatric populations
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Review
DE oxytocin; neuropeptide; attachment; pediatric populations; intranasal
oxytocin
ID OBSESSIVE-COMPULSIVE DISORDER; INTRANASAL OXYTOCIN; SOCIAL-BEHAVIOR;
PRAIRIE VOLES; PLASMA OXYTOCIN; ADDICTION; STRESS; ANXIETY; VASOPRESSIN;
EXPOSURE
AB The role of endogenous oxytocin as neuromodulator of birth, lactation and social behaviors is well-recognized. Moreover, the use of oxytocin as a facilitator of social and other behaviors is becoming more and more accepted. Many positive effects have been attributed to intranasal oxytocin administration in animals and humans; with current research highlighting encouraging advances in its potential for use in mental health disorders. The new frontier will be investigating the effective use of oxytocin in pediatric populations. Limited animal data is available on this. Large-scale human studies focusing on autism are currently under way, but many other possibilities seem to lie in the future. However, we need to know more about the risks and effects of repeated use on the developing brain and body. This paper will provide an overview of the current understanding of the role of endogenous oxytocin and its related neuropeptide systems in influencing behaviors, in particular attachment, and will review (a) the literature on the use of intranasal oxytocin in young animals, children (age range birth-12 years) and adolescents (age range 13-19 years), (b) the expected benefits and risks based on the current research, and (c) the risks of oxytocin in children with severe psychopathology and early life trauma. The paper will conclude with a clinical perspective on these findings.
C1 [Taylor, Adrienne E.; Lee, Hsu-en] Womens & Childrens Hosp, Dept Psychol Med, Adelaide, SA 5006, Australia.
[Lee, Hsu-en] Univ Adelaide, Sch Med, Adelaide, SA, Australia.
[Buisman-Pijlman, Femke T. A.] Univ Adelaide, Sch Med Sci, Fac Hlth Sci, Discipline Pharmacol, Adelaide, SA, Australia.
RP Taylor, AE (reprint author), Womens & Childrens Hosp, Dept Psychol Med, 72 King William Rd, Adelaide, SA 5006, Australia.
EM adrienne.taylor@health.sa.gov.au
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NR 60
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5153
J9 FRONT BEHAV NEUROSCI
JI Front. Behav. Neurosci.
PD OCT 16
PY 2014
VL 8
AR 360
DI 10.3389/fnbeh.2014.00360
PG 8
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AW0MB
UT WOS:000345985400001
PM 25360094
ER
PT J
AU Yu, FQ
Ye, R
Sun, SY
Carretie, L
Zhang, L
Dong, Y
Zhu, CY
Luo, YJ
Wang, K
AF Yu, Fengqiong
Ye, Rong
Sun, Shiyue
Carretie, Luis
Zhang, Lei
Dong, Yi
Zhu, Chunyan
Luo, Yuejia
Wang, Kai
TI Dissociation of Neural Substrates of Response Inhibition to Negative
Information between Implicit and Explicit Facial Go/Nogo Tasks: Evidence
from an Electrophysiological Study
SO PLOS ONE
LA English
DT Article
ID INFERIOR FRONTAL-CORTEX; BORDERLINE PERSONALITY-DISORDER; AUTISM
SPECTRUM DISORDER; EVENT-RELATED POTENTIALS; EMOTION REGULATION;
COGNITIVE CONTROL; MAJOR DEPRESSION; TIME-COURSE; PREFRONTAL CORTEX;
INVOLUNTARY ATTENTION
AB Background: Although ample evidence suggests that emotion and response inhibition are interrelated at the behavioral and neural levels, neural substrates of response inhibition to negative facial information remain unclear. Thus we used event-related potential (ERP) methods to explore the effects of explicit and implicit facial expression processing in response inhibition.
Methods: We used implicit (gender categorization) and explicit emotional Go/Nogo tasks (emotion categorization) in which neutral and sad faces were presented. Electrophysiological markers at the scalp and the voxel level were analyzed during the two tasks.
Results: We detected a task, emotion and trial type interaction effect in the Nogo-P3 stage. Larger Nogo-P3 amplitudes during sad conditions versus neutral conditions were detected with explicit tasks. However, the amplitude differences between the two conditions were not significant for implicit tasks. Source analyses on P3 component revealed that right inferior frontal junction (rIFJ) was involved during this stage. The current source density (CSD) of rIFJ was higher with sad conditions compared to neutral conditions for explicit tasks, rather than for implicit tasks.
Conclusions: The findings indicated that response inhibition was modulated by sad facial information at the action inhibition stage when facial expressions were processed explicitly rather than implicitly. The rIFJ may be a key brain region in emotion regulation.
C1 [Yu, Fengqiong; Ye, Rong; Zhang, Lei; Zhu, Chunyan; Wang, Kai] Anhui Med Univ, Dept Med Psychol, Lab Cognit Neuropsychol, Hefei, Peoples R China.
[Sun, Shiyue] Beijing Forestry Univ, Sch Humanities & Social Sci, Beijing, Peoples R China.
[Carretie, Luis] Univ Autonoma Madrid, Fac Psychol, Madrid, Spain.
[Wang, Kai] Anhui Med Univ, Affiliated Hosp 1, Dept Neurol, Hefei, Peoples R China.
[Dong, Yi] Anhui Mental Hlth Ctr, Hefei, Peoples R China.
[Luo, Yuejia] Shenzhen Univ, Inst Social & Affect Neurosci, Shenzhen, Peoples R China.
RP Wang, K (reprint author), Anhui Med Univ, Dept Med Psychol, Lab Cognit Neuropsychol, Hefei, Peoples R China.
EM wangkai1964@126.com
RI Carretie, Luis/B-7290-2008
OI Carretie, Luis/0000-0001-7375-6739
FU National Natural Science Foundation of China [31000503, 91232717,
31100812, 81301176, 81300944]; Ministry of Science and Technology
[2011CB707805]
FX This research was supported by the National Natural Science Foundation
of China (31000503, 91232717, 31100812, 81301176, and 81300944) and the
Ministry of Science and Technology (2011CB707805). 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 87
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 OCT 16
PY 2014
VL 9
IS 10
AR e109839
DI 10.1371/journal.pone.0109839
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AQ9XC
UT WOS:000343210800043
PM 25330212
ER
PT J
AU Gombash, SE
Cowley, CJ
Fitzgerald, JA
Hall, JCE
Mueller, C
Christofi, FL
Foust, KD
AF Gombash, Sara E.
Cowley, Christopher J.
Fitzgerald, Julie A.
Hall, Jodie C. E.
Mueller, Christian
Christofi, Fedias L.
Foust, Kevin D.
TI Intravenous AAV9 efficiently transduces myenteric neurons in neonate and
juvenile mice
SO FRONTIERS IN MOLECULAR NEUROSCIENCE
LA English
DT Article
DE AAV9; adeno-associated virus; enteric nervous system; myenteric plexus;
functional gastrointestinal motility disorders; enteric glia; enteric
neuropathy; gene therapy
ID ENTERIC NERVOUS-SYSTEM; CHRONIC INTESTINAL PSEUDOOBSTRUCTION; SPINAL
MUSCULAR-ATROPHY; BLOOD-BRAIN-BARRIER; PARKINSONS-DISEASE; GENE-THERAPY;
GASTROINTESTINAL DISORDERS; GLIAL-CELLS; NONHUMAN-PRIMATES; MOUSE MODEL
AB Gene therapies for neurological diseases with autonomic or gastrointestinal involvement may require global gene expression. Gastrointestinal complications are often associated with Parkinson's disease and autism. Lewy bodies, a pathological hallmark of Parkinson's brains, are routinely identified in the neurons of the enteric nervous system (ENS) following colon biopsies from patients. The ENS is the intrinsic nervous system of the gut, and is responsible for coordinating the secretory and motor functions of the gastrointestinal tract. ENS dysfunction can cause severe patient discomfort, malnourishment, or even death as in intestinal pseudo-obstruction (Ogilvie syndrome). Importantly, ENS transduction following systemic vector administration has not been thoroughly evaluated. Here we show that systemic injection of AAV9 into neonate or juvenile mice results in transduction of 25-57% of ENS myenteric neurons. Transgene expression was prominent in choline acetyltransferase positive cells, but not within vasoactive intestinal peptide or neuronal nitric oxide synthase cells, suggesting a bias for cells involved in excitatory signaling. AAV9 transduction in enteric glia is very low compared to CNS astrocytes. Enteric glial transduction was enhanced by using a glial specific promoter. Furthermore, we show that AAV8 results in comparable transduction in neonatal mice to AAV9 though AAV1, 5, and 6 are less efficient. These data demonstrate that systemic AAV9 has high affinity for peripheral neural tissue and is useful for future therapeutic development and basic studies of the ENS.
C1 [Gombash, Sara E.; Cowley, Christopher J.; Fitzgerald, Julie A.; Foust, Kevin D.] Ohio State Univ, Dept Neurosci, Columbus, OH 43210 USA.
[Hall, Jodie C. E.] Ohio State Univ, Dept Neurosci, Ctr Brain & Spinal Cord Repair, Columbus, OH 43210 USA.
[Mueller, Christian] Univ Massachusetts, Sch Med, Dept Pediat, Gene Therapy Ctr, Worcester, MA USA.
[Christofi, Fedias L.] Ohio State Univ, Dept Anesthesiol, Columbus, OH 43210 USA.
RP Foust, KD (reprint author), Ohio State Univ, Dept Neurosci, 460 W 12th Ave,BRT 698, Columbus, OH 43210 USA.
EM kevin.foust@osumc.edu
FU NIH [T32# 5T32NS07798402]
FX Sara E. Gombash is supported by NIH T32# 5T32NS07798402.
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NR 64
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5099
J9 FRONT MOL NEUROSCI
JI Front. Molec. Neurosci.
PD OCT 15
PY 2014
VL 7
DI 10.3389/fnmo1.2014.00081
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AZ2LY
UT WOS:000348066200001
PM 25360081
ER
PT J
AU Althaus, M
Groen, Y
van der Schaft, L
Minderaa, RB
Tucha, O
Mulder, LJM
Wijers, AA
AF Althaus, Monika
Groen, Yvonne
van der Schaft, Lutske
Minderaa, Ruud B.
Tucha, Oliver
Mulder, Lambertus J. M.
Wijers, Albertus A.
TI Sex Differences in Orienting to Pictures with and without Humans:
Evidence from the Cardiac Evoked Response (ECR) and the Cortical Long
Latency Parietal Positivity (LPP)
SO PLOS ONE
LA English
DT Article
ID EVENT-RELATED POTENTIALS; HIGH-FUNCTIONING AUTISM; SPECTRUM QUOTIENT AQ;
HEART-RATE RESPONSES; EMPATHY QUOTIENT; SYSTEMATIZING QUOTIENT;
ASPERGER-SYNDROME; EMOTION; BRAIN; PERFORMANCE
AB Objective: This study investigated the effect of social relevance in affective pictures on two orienting responses, i.e. the evoked cardiac response (ECR), and a long latency cortical evoked potential (LPP) and whether this effect would differ between males and females. Assuming that orienting to affective social information is fundamental to experiencing affective empathy, associations between self-report measures of empathy and the two orienting responses were investigated.
Method: ECRs were obtained from 34 female and 30 male students, and LPPs from 25 female and 27 male students viewing 414 pictures from the International Affective Picture System. Pictures portrayed pleasant, unpleasant and neutral scenes with and without humans.
Results: Both the ECR and LPP showed the largest response to pictures with humans in unpleasant situations. For both measures, the responses to pictures with humans correlated with self-report measures of empathy. While we found a greater male than female responsiveness to the pictures without humans in the ECR, a greater female than male responsiveness was observed in the LPP response to pictures with humans.
Conclusion and Significance: The sensitivity of these orienting responses to social relevance and their differential contribution to the prediction of individual differences underline the validity of their combined use in clinical studies investigating individuals with social disabilities.
C1 [Althaus, Monika; van der Schaft, Lutske; Minderaa, Ruud B.] Univ Groningen, Univ Med Ctr Groningen, Dept Child & Adolescent Psychiat, NL-9713 AV Groningen, Netherlands.
[Groen, Yvonne; Tucha, Oliver; Mulder, Lambertus J. M.; Wijers, Albertus A.] Univ Groningen, Dept Psychol, NL-9712 TS Groningen, Netherlands.
RP Althaus, M (reprint author), Univ Groningen, Univ Med Ctr Groningen, Dept Child & Adolescent Psychiat, NL-9713 AV Groningen, Netherlands.
EM m.althaus@accare.nl
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NR 40
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 15
PY 2014
VL 9
IS 10
AR e108224
DI 10.1371/journal.pone.0108224
PG 17
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AX2IH
UT WOS:000346766200009
PM 25330003
ER
PT J
AU Nuytens, K
Tuand, K
Fu, QL
Stijnen, P
Pruniau, V
Meulemans, S
Vankelecom, H
Creemers, JWM
AF Nuytens, Kim
Tuand, Krizia
Fu, Quili
Stijnen, Pieter
Pruniau, Vincent
Meulemans, Sandra
Vankelecom, Hugo
Creemers, John W. M.
TI The Dwarf Phenotype in GH240B Mice, Haploinsufficient for the Autism
Candidate Gene Neurobeachin, Is Caused by Ectopic Expression of
Recombinant Human Growth Hormone
SO PLOS ONE
LA English
DT Article
ID LOCUS-CONTROL REGION; COPY NUMBER VARIANTS; SPECTRUM DISORDER;
SOMATOSTATIN; SECRETION; HYPOTHALAMUS; ACTIVATION; RECEPTORS; DELETION;
PATIENT
AB Two knockout mouse models for the autism candidate gene Neurobeachin (Nbea) have been generated independently. Although both models have similar phenotypes, one striking difference is the dwarf phenotype observed in the heterozygous configuration of the GH240B model that is generated by the serendipitous insertion of a promoterless human growth hormone (hGH) genomic fragment in the Nbea gene. In order to elucidate this discrepancy, the dwarfism present in this Nbea mouse model was investigated in detail. The growth deficiency in Nbea(+/-) mice coincided with an increased percentage of fat mass and a decrease in bone mineral density. Low but detectable levels of hGH were detected in the pituitary and hypothalamus of Nbea(+/-) mice but not in liver, hippocampus nor in serum. As a consequence, several members of the mouse growth hormone (mGH) signaling cascade showed altered mRNA levels, including a reduction in growth hormone-releasing hormone mRNA in the hypothalamus. Moreover, somatotrope cells were less numerous in the pituitary of Nbea(+/-) mice and both contained and secreted significantly less mGH resulting in reduced levels of circulating insulin-like growth factor 1. These findings demonstrate that the random integration of the hGH transgene in this mouse model has not only inactivated Nbea but has also resulted in the tissue-specific expression of hGH causing a negative feedback loop, mGH hyposecretion and dwarfism.
C1 [Nuytens, Kim; Tuand, Krizia; Stijnen, Pieter; Pruniau, Vincent; Meulemans, Sandra; Creemers, John W. M.] Katholieke Univ Leuven, Dept Human Genet, Leuven, Belgium.
[Nuytens, Kim; Tuand, Krizia; Creemers, John W. M.] Katholieke Univ Leuven, Leuven Autism Res Consortium LAuRes, Leuven, Belgium.
[Fu, Quili; Vankelecom, Hugo] Katholieke Univ Leuven, Dept Dev & Regenerat, Leuven, Belgium.
RP Creemers, JWM (reprint author), Katholieke Univ Leuven, Dept Human Genet, Leuven, Belgium.
EM john.creemers@med.kuleuven.be
RI Tuand, Krizia/E-1657-2015
OI Tuand, Krizia/0000-0003-2670-5415
FU Fonds wetenschappelijk onderzoek [G1187213N]; het agentschap voor
innovatie, wetenschap en techniek [083312]; stichting Marguerite-Marie
Delacroix [PC-301]; KU Leuven interdisciplinary research applications
[IDO/08/13]
FX KT received funding from Fonds wetenschappelijk onderzoek (G1187213N;
www.fwo.be). KN received funding from het agentschap voor innovatie,
wetenschap en techniek (083312; www.iwt.be). JWMC received funding from
stichting Marguerite-Marie Delacroix (PC-301; www.stichtingdelacroix.be)
and from KU Leuven interdisciplinary research applications (IDO/08/13).
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 41
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 15
PY 2014
VL 9
IS 10
AR e109598
DI 10.1371/journal.pone.0109598
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AX2IH
UT WOS:000346766200043
PM 25333629
ER
PT J
AU Tao, VQ
Chan, KYK
Chu, YWY
Mok, GTK
Tan, TY
Yang, WL
Lee, SL
Tang, WF
Tso, WWY
Lau, ET
Kan, ASY
Tang, MH
Lau, YL
Chung, BHY
AF Tao, Victoria Q.
Chan, Kelvin Y. K.
Chu, Yoyo W. Y.
Mok, Gary T. K.
Tan, Tiong Y.
Yang, Wanling
Lee, So Lun
Tang, Wing Fai
Tso, Winnie W. Y.
Lau, Elizabeth T.
Kan, Anita S. Y.
Tang, Mary H.
Lau, Yu-lung
Chung, Brian H. Y.
TI The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong
Kong
SO PLOS ONE
LA English
DT Article
ID COMPARATIVE GENOMIC HYBRIDIZATION; AUTISM SPECTRUM DISORDERS;
PRADER-WILLI-SYNDROME; INTELLECTUAL DISABILITY; DEVELOPMENTAL DELAY;
ARRAY CGH; CONGENITAL-ANOMALIES; MENTAL-RETARDATION; MEDICAL-MANAGEMENT;
DIAGNOSTIC-TEST
AB Objective: To evaluate the clinical impact of chromosomal microarray (CMA) on the management of paediatric patients in Hong Kong.
Methods: We performed NimbleGen 135k oligonucleotide array on 327 children with intellectual disability (ID)/developmental delay (DD), autism spectrum disorders (ASD), and/or multiple congenital anomalies (MCAs) in a university-affiliated paediatric unit from January 2011 to May 2013. The medical records of patients were reviewed in September 2013, focusing on the pathogenic/likely pathogenic CMA findings and their "clinical actionability'' based on established criteria.
Results: Thirty-seven patients were reported to have pathogenic/likely pathogenic results, while 40 had findings of unknown significance. This gives a detection rate of 11% for clinically significant (pathogenic/likely pathogenic) findings. The significant findings have prompted clinical actions in 28 out of 37 patients (75.7%), while the findings with unknown significance have led to further management recommendation in only 1 patient (p<0.001). Nineteen out of the 28 management recommendations are "evidence-based'' on either practice guidelines endorsed by a professional society (n = 9, Level 1) or peer-reviewed publications making medical management recommendation (n = 10, Level 2). CMA results impact medical management by precipitating referral to a specialist (n = 24); diagnostic testing (n = 25), surveillance of complications (n = 19), interventional procedure (n = 7), medication (n = 15) or lifestyle modification (n = 12).
Conclusion: The application of CMA in children with ID/DD, ASD, and/or MCAs in Hong Kong results in a diagnostic yield of similar to 11% for pathogenic/likely pathogenic results. Importantly the yield for clinically actionable results is 8.6%. We advocate using diagnostic yield of clinically actionable results to evaluate CMA as it provides information of both clinical validity and clinical utility. Furthermore, it incorporates evidence-based medicine into the practice of genomic medicine. The same framework can be applied to other genomic testing strategies enabled by next-generation sequencing.
C1 [Tao, Victoria Q.; Chu, Yoyo W. Y.; Mok, Gary T. K.; Tan, Tiong Y.; Yang, Wanling; Lee, So Lun; Tso, Winnie W. Y.; Lau, Yu-lung; Chung, Brian H. Y.] Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China.
[Chan, Kelvin Y. K.; Kan, Anita S. Y.] Queen Mary Hosp, Dept Obstet & Gynecol, Hong Kong, Hong Kong, Peoples R China.
[Tan, Tiong Y.] Univ Melbourne, Royal Childrens Hosp, Murdoch Childrens Res Inst, Victorian Clin Genet Serv,Dept Paediat, Melbourne, Vic, Australia.
[Tang, Wing Fai; Lau, Elizabeth T.; Tang, Mary H.; Chung, Brian H. Y.] Univ Hong Kong, LKS Fac Med, Dept Obstet & Gynecol, Hong Kong, Hong Kong, Peoples R China.
RP Chung, BHY (reprint author), Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China.
EM bhychung@hku.hk
FU SK Yee Medical Foundation [211203, 212210]; SK Yee Medical Research
[20006551]; Overseas Training Fellowship - National Health and Medical
Research Council of Australia [607431]
FX The study was funded by SK Yee Medical Foundation 2011 (#211203), SK Yee
Medical Foundation 2012 (#212210), and SK Yee Medical Research 2012
(#20006551) applied by BHYC.(http://www.skyeemedicalfoundation.org/).
TYT was funded by an Overseas Training Fellowship (#607431) provided by
the National Health and Medical Research Council of Australia. The
funders had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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NR 47
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 15
PY 2014
VL 9
IS 10
AR e109629
DI 10.1371/journal.pone.0109629
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AX2IH
UT WOS:000346766200045
PM 25333781
ER
PT J
AU Brimberg, L
Madar, S
Jeganathan, V
Berlin, R
Smith, C
Huerta, P
Volpe, B
Diamond, B
AF Brimberg, Lior
Madar, Simone
Jeganathan, Venkatesh
Berlin, Roseann
Smith, Cassaundra
Huerta, Patricio
Volpe, Bruce
Diamond, Betty
TI A monoclonal antibody from a mother of a child with autism resulted in
cortical and behavioral alterations in male but not in female mice
SO JOURNAL OF NEUROIMMUNOLOGY
LA English
DT Meeting Abstract
CT 12th International Congress of Neuroimmunology (ISNI)
CY NOV 09-13, 2014
CL Mainz, GERMANY
C1 [Brimberg, Lior; Madar, Simone; Jeganathan, Venkatesh; Berlin, Roseann; Smith, Cassaundra; Huerta, Patricio; Volpe, Bruce; Diamond, Betty] N Shore Univ Hosp, Feinstein Inst Med Res, Manhasset, NY USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-5728
EI 1872-8421
J9 J NEUROIMMUNOL
JI J. Neuroimmunol.
PD OCT 15
PY 2014
VL 275
IS 1-2
SI SI
MA 272
BP 3
EP 3
DI 10.1016/j.jneuroim.2014.08.014
PG 1
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA AT8OK
UT WOS:000345192100007
ER
PT J
AU Grissom, M
Tiffany, M
Davidson, L
AF Grissom, Maureen
Tiffany, Matthew
Davidson, Laurie
TI Screening for Autism Spectrum Disorders
SO AMERICAN FAMILY PHYSICIAN
LA English
DT Editorial Material
C1 [Grissom, Maureen; Tiffany, Matthew] Hofstra North Shore Long Isl Jewish Hlth Syst, Southside Hosp, Family Med Residency, Bay Shore, NY 11706 USA.
[Davidson, Laurie] Georgetown Univ, Med Ctr, Dahlgren Mem Lib, Washington, DC 20007 USA.
RP Grissom, M (reprint author), Hofstra North Shore Long Isl Jewish Hlth Syst, Southside Hosp, Family Med Residency, Bay Shore, NY 11706 USA.
EM mgrissom@nshs.edu
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Sunita, 2013, J PAEDIATR CHILD H, V49, P438
NR 6
TC 0
Z9 0
PU AMER ACAD FAMILY PHYSICIANS
PI KANSAS CITY
PA 8880 WARD PARKWAY, KANSAS CITY, MO 64114-2797 USA
SN 0002-838X
EI 1532-0650
J9 AM FAM PHYSICIAN
JI Am. Fam. Physician
PD OCT 15
PY 2014
VL 90
IS 8
BP 574
EP 575
PG 2
WC Primary Health Care; Medicine, General & Internal
SC General & Internal Medicine
GA AR6EK
UT WOS:000343676000011
PM 25369647
ER
PT J
AU Chueh, HC
Chen, YT
AF Chueh, Ho-chia
Chen, Ya-Tung
TI Social Involvement: Deconstructing practices relating to the formation
of students who work with autistic children in a university
service-learning course
SO EDUCATIONAL PHILOSOPHY AND THEORY
LA English
DT Article
DE students who work with autism; civic engagement; service-learning
course; subjectivity; Foucault
ID NURSING PRACTICE; POWER; EDUCATION
AB Participation in service-learning courses has always been considered a part of the informal education in tertiary education worldwide. Originating from the assumption that service-learning courses increase students' civic engagement and bridge the gap between knowledge and practice, service-learning courses have gradually acquired the status of compulsory courses at universities. This being as it may be, it would seem that the nature of such courses would benefit from further analysis and discussion regarding their function in knowledge reproduction, and their role in teaching and education. The aim of this article is to examine and analyze a university service-learning course-the National Taiwan University (NTU) Star-Rain course with a commitment to serving children with autism-from a Foucaultian perspective, and reflect on how the process of putting knowledge during a service-learning course into practice comes to constitute the subjectivity of students who work with children who are autistic. We argue that the course under investigation has, in effect, become wholly entangled in the medical system's treatment of autism in Taiwan. The service-learning process involves knowledge acquisition as well as long-term, detailed, concrete hands-on experience, and shapes, in a very complete way, students' construction of their subject knowledge of autism.
C1 [Chueh, Ho-chia; Chen, Ya-Tung] Natl Taiwan Univ, Dept Biocommun & Dev, Taipei, Taiwan.
RP Chueh, HC (reprint author), Natl Taiwan Univ, Dept Biocommun & Dev, Taipei, Taiwan.
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Z9 0
PU TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXON, ENGLAND
SN 0013-1857
EI 1469-5812
J9 EDUC PHILOS THEORY
JI Educ. Philos. Theory
PD OCT 15
PY 2014
VL 46
IS 12
BP 1366
EP 1380
DI 10.1080/00131857.2013.828581
PG 15
WC Education & Educational Research
SC Education & Educational Research
GA AR0EL
UT WOS:000343240500005
ER
PT J
AU Martin, J
Hamshere, ML
Stergiakouli, E
O'Donovan, MC
Thapar, A
AF Martin, Joanna
Hamshere, Marian L.
Stergiakouli, Evangelia
O'Donovan, Michael C.
Thapar, Anita
TI Genetic Risk for Attention-Deficit/Hyperactivity Disorder Contributes to
Neurodevelopmental Traits in the General Population
SO BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Attention-deficit/hyperactivity disorder; autism spectrum disorder; Avon
Longitudinal Study of Parents and Children (ALSPAC); genetics; pragmatic
language; social communication
ID DEFICIT HYPERACTIVITY DISORDER; GENOME-WIDE ANALYSIS; AUTISTIC-LIKE
TRAITS; SPECTRUM DISORDERS; COMMUNITY TWIN; ADHD BEHAVIORS; CHILDREN;
ASSOCIATION; PREVALENCE; CHILDHOOD
AB Background: Attention-deficit/hyperactivity disorder (ADHD) can be viewed as the extreme end of traits in the general population. Epidemiological and twin studies suggest that ADHD frequently co-occurs with and shares genetic susceptibility with autism spectrum disorder (ASD) and ASD-related traits. The aims of this study were to determine whether a composite of common molecular genetic variants, previously found to be associated with clinically diagnosed ADHD, predicts ADHD and ASD-related traits in the general population.
Methods: Polygenic risk scores were calculated in the Avon Longitudinal Study of Parents and Children (ALSPAC) population sample (N = 8229) based on a discovery case-control genome-wide association study of childhood ADHD. Regression analyses were used to assess whether polygenic scores predicted ADHD traits and ASD-related measures (pragmatic language abilities and social cognition) in the ALSPAC sample. Polygenic scores were also compared in boys and girls endorsing any (rating >= 1) ADHD item (n = 3623).
Results: Polygenic risk for ADHD showed a positive association with ADHD traits (hyperactive-impulsive, p = .0039; inattentive, p = .037). Polygenic risk for ADHD was also negatively associated with pragmatic language abilities (p = .037) but not with social cognition (p = .43). In children with a rating >= 1 for ADHD traits, girls had a higher polygenic score than boys (p = .003).
Conclusions: These findings provide molecular genetic evidence that risk alleles for the categorical disorder of ADHD influence hyperactive-impulsive and attentional traits in the general population. The results further suggest that common genetic variation that contributes to ADHD diagnosis may also influence ASD-related traits, which at their extreme are a characteristic feature of ASD.
C1 [Martin, Joanna; Hamshere, Marian L.; O'Donovan, Michael C.; Thapar, Anita] Cardiff Univ, Sch Med, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiatr Genet & Genom, Cardiff CF24 4HQ, S Glam, Wales.
[Stergiakouli, Evangelia] Univ Bristol, MRC Integrat Epidemiol Unit, Bristol, Avon, England.
RP Thapar, A (reprint author), Cardiff Univ, Sch Med, MRC Ctr Neuropsychiat Genet & Genom, Hadyn Ellis Bldg,Maindy Rd, Cardiff CF24 4HQ, S Glam, Wales.
EM thapar@cardiff.ac.uk
FU Wellcome Trust [092731]; United Kingdom Medical Research Council
FX The United Kingdom Medical Research Council and the Wellcome Trust
(Grant No. 092731) and the University of Bristol provide core support
for the Avon Longitudinal Study of Parents and Children. The United
Kingdom Medical Research Council also supports the authors.We thank Dr.
Stephan Collishaw for advice and comments on a draft of the manuscript.
We thank all the families who participated in this study; the midwives
for their help in recruiting the families; and the whole Avon
Longitudinal Study of Parents and Children team, which includes
interviewers, computer and laboratory technicians, clerical workers,
research scientists, volunteers, managers, receptionists, and nurses. We
thank Peter Holmans, Michael Owen, Kate Langley, Nigel Williams, Lindsey
Kent, and Michael Gill for their contributions to the original clinical
diagnostic data from which polygenic risk scores were derived; these
data were funded by the Wellcome Trust. We also thank the Psychiatric
Genomics Consortium attention-deficit/hyperactivity disorder group.
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NR 45
TC 6
Z9 6
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD OCT 15
PY 2014
VL 76
IS 8
BP 664
EP 671
DI 10.1016/j.biopsych.2014.02.013
PG 8
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AQ8QL
UT WOS:000343094400012
PM 24673882
ER
PT J
AU Suhl, JA
Chopra, P
Anderson, BR
Bassell, GJ
Warren, ST
AF Suhl, Joshua A.
Chopra, Pankaj
Anderson, Bart R.
Bassell, Gary J.
Warren, Stephen T.
TI Analysis of FMRP mRNA target datasets reveals highly associated mRNAs
mediated by G-quadruplex structures formed via clustered WGGA sequences
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID MENTAL-RETARDATION PROTEIN; FRAGILE-X-SYNDROME; DE-NOVO MUTATIONS; GENE;
BINDING; AUTISM; IDENTIFICATION; DNA; SCHIZOPHRENIA; EXPRESSION
AB Fragile X syndrome, a common cause of intellectual disability and a well-known cause of autism spectrum disorder, is the result of loss or dysfunction of fragile X mental retardation protein (FMRP), a highly selective RNA-binding protein and translation regulator. A major research priority has been the identification of the mRNA targets of FMRP, particularly as recent studies suggest an excess of FMRP targets among genes implicated in idiopathic autism and schizophrenia. Several large-scale studies have attempted to identify mRNAs bound by FMRP through several methods, each generating a list of putative target genes, leading to distinct hypotheses by which FMRP recognizes its targets; namely, by RNA structure or sequence. However, no in depth analyses have been performed to identify the level of consensus among the studies. Here, we analyze four large FMRP target datasets to generate high-confidence consensus lists, and examine all datasets for sequence elements within the target RNAs to validate reported FMRP binding motifs (GACR, ACUK and WGGA). We found GACR to be highly enriched in FMRP datasets, while ACUK was not. The WGGA pattern was modestly enriched in several, but not all datasets. The previous association between FMRP and G-quadruplexes prompted the analysis of the distribution of WGGA in the target genes. Consistent with the requirements for G-quadruplex formation, we observed highly clustered WGGA motifs in FMRP targets compared with other genes, implicating both RNA structure and sequence in the recognition motif of FMRP. In addition, we generate a list of the top 40 FMRP targets associated with FXS-related phenotypes.
C1 [Suhl, Joshua A.; Chopra, Pankaj; Anderson, Bart R.; Warren, Stephen T.] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA.
[Anderson, Bart R.; Bassell, Gary J.] Emory Univ, Sch Med, Dept Cell Biol, Atlanta, GA 30322 USA.
[Bassell, Gary J.] Emory Univ, Sch Med, Dept Neurol, Atlanta, GA 30322 USA.
[Warren, Stephen T.] Emory Univ, Sch Med, Dept Biochem, Atlanta, GA 30322 USA.
[Warren, Stephen T.] Emory Univ, Sch Med, Dept Pediat, Atlanta, GA 30322 USA.
RP Warren, ST (reprint author), Emory Univ, 615 Michael St,Whitehead Biomed Res Bldg Room 375, Atlanta, GA 30322 USA.
EM swarren@emory.edu
FU National Institutes of Health [HD24064, 1RO1MH085617, 1T32MH087977,
1F32NS083205]
FX This work was supported by the National Institutes of Health (HD24064 to
S.T.W., 1RO1MH085617 to G.J.B., 1T32MH087977 to J.A.S. and BRA., and
1F32NS083205 to BRA.).
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NR 36
TC 3
Z9 3
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
EI 1460-2083
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD OCT 15
PY 2014
VL 23
IS 20
BP 5479
EP 5491
DI 10.1093/hmg/ddu272
PG 13
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AQ9UO
UT WOS:000343202400015
PM 24876161
ER
PT J
AU Georgescu, AL
Kuzmanovic, B
Roth, D
Bente, G
Vogeley, K
AF Georgescu, Alexandra Livia
Kuzmanovic, Bojana
Roth, Daniel
Bente, Gary
Vogeley, Kai
TI The use of virtual characters to assess and train non-verbal
communication in high-functioning autism
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Review
DE high-functioning autism; non-verbal behavior; social interaction;
virtual reality; virtual characters; social gaze
ID SPECTRUM-DISORDERS; SOCIAL-INTERACTION; FACIAL EXPRESSIONS;
ASPERGER-SYNDROME; DIGITAL CHAMELEONS; DYADIC INTERACTION; BRAIN
MECHANISMS; ANIMATED SHAPES; 1ST IMPRESSIONS; GAZE DIRECTION
AB High-functioning autism (HFA) is a neurodevelopmental disorder, which is characterized by life-long socio-communicative impairments on the one hand and preserved verbal and general learning and memory abilities on the other. One of the areas where particular difficulties are observable is the understanding of non-verbal communication cues. Thus, investigating the underlying psychological processes and neural mechanisms of non-verbal communication in HFA allows a better understanding of this disorder, and potentially enables the development of more efficient forms of psychotherapy and trainings. However, the research on non-verbal information processing in H FA faces several methodological challenges. The use of virtual characters (VCs) helps to overcome such challenges by enabling an ecologically valid experience of social presence, and by providing an experimental platform that can be systematically and fully controlled. To make this field of research accessible to a broader audience, we elaborate in the first part of the review the validity of using VCs in non-verbal behavior research on HFA, and we review current relevant paradigms and findings from social-cognitive neuroscience. In the second part, we argue for the use of VCs as either agents or avatars in the context of "transformed social interactions." This allows for the implementation of real-time social interaction in virtual experimental settings, which represents a more sensitive measure of socio-communicative impairments in HFA. Finally, we argue that VCs and environments are a valuable assistive, educational and therapeutic tool for HFA.
C1 [Georgescu, Alexandra Livia; Kuzmanovic, Bojana; Vogeley, Kai] Univ Hosp Cologne, Dept Psychiat & Psychotherapy, D-50924 Cologne, Germany.
[Kuzmanovic, Bojana] Res Ctr Juelich, Inst Neurosci & Med, Eth Neurosci INM 8, Julich, Germany.
[Roth, Daniel; Bente, Gary] Univ Cologne, Dept Physiol, Cologne, Germany.
[Vogeley, Kai] Res Ctr Juelich, Inst Neurosci & Med, Cognit Neurosci INM 3, Julich, Germany.
RP Georgescu, AL (reprint author), Univ Hosp Cologne, Dept Psychiat & Psychotherapy, Kerpener Str 62, D-50924 Cologne, Germany.
EM alexandra.georgescu@uk-koeln.de
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NR 200
TC 1
Z9 1
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 OCT 15
PY 2014
VL 8
AR 807
DI 10.3389/fnhum.2014.00807
PG 17
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AQ7YK
UT WOS:000343036300001
PM 25360098
ER
PT J
AU Marger, L
Schubert, CR
Bertrand, D
AF Marger, L.
Schubert, C. R.
Bertrand, D.
TI Zinc: An underappreciated modulatory factor of brain function
SO BIOCHEMICAL PHARMACOLOGY
LA English
DT Article
DE Zinc; Ion channels; Transporters; Brain function; Neurotransmission
ID GENOME-WIDE ASSOCIATION; LIGAND-BINDING DOMAIN; DE-NOVO MUTATIONS;
NEURONAL NICOTINIC RECEPTORS; AUTISM SPECTRUM DISORDERS;
CENTRAL-NERVOUS-SYSTEM; BODY-MASS INDEX; ACRODERMATITIS-ENTEROPATHICA;
ALZHEIMERS-DISEASE; PHARMACOLOGICAL-PROPERTIES
AB The divalent cation, zinc is the second most abundant metal in the human body and is indispensable for life. Zinc concentrations must however, be tightly regulated as deficiencies are associated with multiple pathological conditions while an excess can be toxic.
Zinc plays an important role as a cofactor in protein folding and function, e.g. catalytic interactions, DNA recognition by zinc finger proteins and modulation ion channel activity. There are 24 mammalian proteins specific for zinc transport that are subdivided in two groups with opposing functions: ZnT proteins reduce cytosolic zinc concentration while ZIP proteins increase it. The mammalian brain contains a significant amount of zinc, with 5-15% concentrated in synaptic vesicles of glutamatergic neurons alone. Accumulated in these vesicles by the ZnT3 transporter, zinc is released into the synaptic cleft at concentrations from nanomolar at rest to high micromolar during active neurotransmission.
Low concentrations of zinc modulate the activity of a multitude of voltage- or ligand-gated ion channels, indicating that this divalent cation must be taken into account in the analysis of the pathophysiology of CNS disorders including epilepsy, schizophrenia and Alzheimer's disease.
In the context of the latest findings, we review the role of zinc in the central nervous system and discuss the relevance of the most recent association between the zinc transporter, ZIP8 and schizophrenia. An enhanced understanding of zinc transporters in the context of ion channel modulation may offer new avenues in identifying novel therapeutic entities that target neurological disorders. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Marger, L.; Bertrand, D.] HiQScreen Sarl, CH-1222 Vesenaz, Switzerland.
[Schubert, C. R.] Pfizer Worldwide Res & Dev, PharmaTherapeut Clin Res, Cambridge, MA 02138 USA.
RP Marger, L (reprint author), HiQScreen, 6 Rte Compois, CH-1222 Geneva, Switzerland.
EM laurine.marger@hiqscreen.com
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NR 130
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0006-2952
EI 1873-2968
J9 BIOCHEM PHARMACOL
JI Biochem. Pharmacol.
PD OCT 15
PY 2014
VL 91
IS 4
BP 426
EP 435
DI 10.1016/j.bcp.2014.08.002
PG 10
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AQ2ZB
UT WOS:000342657400002
PM 25130547
ER
PT J
AU Vannucchi, G
Masi, G
Toni, C
Dell'Osso, L
Erfurth, A
Perugi, G
AF Vannucchi, Giulia
Masi, Gabriele
Toni, Cristina
Dell'Osso, Liliana
Erfurth, Andreas
Perugi, Giulio
TI Bipolar disorder in adults with Asperger's Syndrome: A systematic review
SO JOURNAL OF AFFECTIVE DISORDERS
LA English
DT Review
DE Asperger's Syndrome; Bipolar Disorder; Depression; Comorbidity; Mood
stabilizers; Psychopharmacological treatment
ID PERVASIVE DEVELOPMENTAL DISORDERS; AUTISM SPECTRUM DISORDERS;
HIGH-FUNCTIONING AUTISM; SEROTONIN REUPTAKE INHIBITORS; LONG-TERM
SAFETY; OPEN-LABEL; FAMILY-HISTORY; RISPERIDONE TREATMENT;
PSYCHIATRIC-DISORDERS; INFANTILE-AUTISM
AB Background: Asperger's Syndrome (AS) is a neurodevelopmental disorder included in the Autism Spectrum (ASD). The current literature shows growing evidence of a high rate of comorbiclity between AS and other psychiatric disorders, particularly Bipolar Disorder (BD). We reviewed available epidemiological and clinical data on BD AS comorbiclity and its diagnostic and therapeutic implications
Methods: A systematic review of the literature was conducted through PubMecl, Scopus and Psych-Info using combinations of the following search terms: Asperger's Syndrome, Bipolar Disorder, depression, mood disorder, psychiatric comorbidity, treatment, mood stabilizers, anticonvulsants, antipsychotics, and antidepressants.
Results: BD prevalence in adults with AS ranges horn 6% to 21.4% of the cases. Relatives of patients with AS showed a doubled risk of being affected by BD and a BD prevalence near to 10%. When comorbid with AS, BD assumes peculiar features which might shape its under-recognition or misdiagnosis (especially schizophrenia when psychotic symptoms are prominent). Although controlled data On pharmacological treatments in BD-AS comorbiclity are substantially lacking, information is derived by open observations, case series and chart reviews. Mood stabilizers should be considered the first choice, and antipsychotics, especially second generation drugs (SGA) with 5-HT2a antagonism, have been shown useful in controlling psychotic and behavioral symptoms and improving social withdrawal. Some evidence of efficacy for the treatment of anxiety, obsessive-compulsive symptoms and depression is reported for SSRI antidepressants. The use of these drugs should be carefully monitored, because activation with hypomanic or manic switches is reported up to 54% of the treated subjects.
Conclusion: BD in AS patients is frequent, usually it onsets during adolescence and is often characterized by atypical presentation, making its correct identification particularly difficult. A correct diagnosis of BD in AS individuals has relevant implications on the choice of adequate psychopharmacological, psychosocial and rehabilitative treatments. (C) 2014 Elsevier By. All rights reserved.
C1 [Vannucchi, Giulia; Dell'Osso, Liliana] Univ Pisa, Psychiat Unit, Dept Clin & Expt Med, I-56100 Pisa, Italy.
[Masi, Gabriele] Sci Inst Child Neurol & Psychiat, IRCCS Stella Maris, I-56018 Pisa, Italy.
[Toni, Cristina] Inst Behav Sci G De Lisio, I-56100 Pisa, Italy.
[Erfurth, Andreas] Otto Wagner Psychiat Hosp Vienna, Dept 6, Vienna, Austria.
[Perugi, Giulio] Univ Pisa, Inst Behav Sci G De Lisio, Dept Clin & Expt Med, Psychiat Unit, I-56100 Pisa, Italy.
RP Perugi, G (reprint author), Univ Pisa, Inst Behav Sci G De Lisio, Dept Clin & Expt Med, Psychiat Unit, Via Roma 67, I-56100 Pisa, Italy.
EM giulio.perugi@med.unipi.it
FU Eli lilly; Astra Zeneca; Boehringer Ingheleim; Glaxo-SmithKline; Shire
FX Prof. Giulio Perugi has acted as consultant of Sanofi Aventis, Bristol
Myers Squibb, Astra Zeneca, Eli Lilly, Boehringer Ingheleim; received
grant/research support from Eli lilly, Astra Zeneca, Boehringer
Ingheleim, Glaxo-SmithKline; is on the speaker/advisory board of Sanofi
Aventis, Bristol Myers Squibb, Astra Zeneca, Eli Lilly, Boehringer
Ingheleim, Glaxo-SmithKline, Pfizer, Wyeth, Jannsen-Cilag, Lundbeck.Dr.
Gabriele Masi has served on advisory boards for Eli Lilly, Shire and
Novartis; has received research grants from Eli Lilly and Shire; and has
been speaker for Eli Lilly, Shire, Sanofi-Aventis, and Novartis.
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NR 143
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-0327
EI 1573-2517
J9 J AFFECT DISORDERS
JI J. Affect. Disord.
PD OCT 15
PY 2014
VL 168
BP 151
EP 160
DI 10.1016/j.jad.2014.06.042
PG 10
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AO6SZ
UT WOS:000341483100022
PM 25046741
ER
PT J
AU Libero, LE
Maximo, JO
Deshpande, HD
Klinger, LG
Klinger, MR
Kana, RK
AF Libero, Lauren E.
Maximo, Jose O.
Deshpande, Hrishikesh D.
Klinger, Laura G.
Klinger, Mark R.
Kana, Rajesh K.
TI The role of mirroring and mentalizing networks in mediating action
intentions in autism
SO MOLECULAR AUTISM
LA English
DT Article
DE Action; Intention; Means; fMRI; Autism spectrum disorders; Mirror neuron
system; Theory-of-mind
ID FUNCTIONAL CONNECTIVITY MRI; TEMPORO-PARIETAL JUNCTION; SPECTRUM
DISORDERS; SOCIAL COGNITION; NEURON SYSTEM; PREFRONTAL CORTEX;
ASPERGER-SYNDROME; ACTION REPRESENTATION; PERSPECTIVE-TAKING; ACTION
RECOGNITION
AB Background: The ability to interpret agents' intent from their actions is a vital skill in successful social interaction. However, individuals with autism spectrum disorders (ASD) have been found to have difficulty in attributing intentions to others. The present study investigated the neural mechanisms of inferring intentions from actions in individuals with ASD.
Methods: Functional magnetic resonance imaging (fMRI) data were acquired from 21 high-functioning young adults with ASD and 22 typically developing (TD) control participants, while making judgments about the means (how an action is performed) and intention (why an action is performed) of a model's actions.
Results: Across both groups of participants, the middle and superior temporal cortex, extending to temporoparietal junction, and posterior cingulate cortex, responded significantly to inferring the intent of an action, while inferior parietal lobule and occipital cortices were active for judgments about the means of an action. Participants with ASD had significantly reduced activation in calcarine sulcus and significantly increased activation in left inferior frontal gyrus, compared to TD peers, while attending to the intentions of actions. Also, ASD participants had weaker functional connectivity between frontal and posterior temporal regions while processing intentions.
Conclusions: These results suggest that processing actions and intentions may not be mutually exclusive, with reliance on mirroring and mentalizing mechanisms mediating action understanding. Overall, inferring information about others' actions involves activation of the mirror neuron system and theory-of-mind regions, and this activation (and the synchrony between activated brain regions) appears altered in young adults with ASD.
C1 [Libero, Lauren E.; Maximo, Jose O.; Kana, Rajesh K.] Univ Alabama Birmingham, Dept Psychol, Birmingham, AL 35294 USA.
[Deshpande, Hrishikesh D.] Univ Alabama Birmingham, Dept Radiol, Birmingham, AL 35294 USA.
[Klinger, Laura G.] Univ N Carolina, Sch Med, Treatment & Educ Autist & Commun Related Handicap, Chapel Hill, NC 27510 USA.
[Klinger, Mark R.] Univ N Carolina, Dept Allied Hlth Sci, Chapel Hill, NC 27599 USA.
RP Kana, RK (reprint author), Univ Alabama Birmingham, Dept Psychol, CIRC 235G,1719 6th Ave South, Birmingham, AL 35294 USA.
EM rkana@uab.edu
FU UAB Department of Psychology Faculty funds; McNulty-Civitan Scientist
Award
FX The authors would like to thank Dr Marie Moore Channell, and Patrick
Powell for their help at different stages of this study. We would also
like to thank Dr Floris de Lange for generously providing the stimuli
for this study. This study was supported by the UAB Department of
Psychology Faculty funds and the McNulty-Civitan Scientist Award to RK.
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NR 100
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD OCT 14
PY 2014
VL 5
AR 50
DI 10.1186/2040-2392-5-50
PG 13
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AS2JL
UT WOS:000344106100001
PM 25352976
ER
PT J
AU Denessiouk, K
Permyakov, S
Denesyuk, A
Permyakov, E
Johnson, MS
AF Denessiouk, Konstantin
Permyakov, Sergei
Denesyuk, Alexander
Permyakov, Eugene
Johnson, Mark S.
TI Two Structural Motifs within Canonical EF-Hand Calcium-Binding Domains
Identify Five Different Classes of Calcium Buffers and Sensors
SO PLOS ONE
LA English
DT Article
ID CARDIAC TROPONIN-C; DOMINANT CONE DYSTROPHY; CRYSTAL-STRUCTURE; CA2+
BINDING; CONFORMATIONAL-CHANGES; ALZHEIMERS-DISEASE; REGULATORY DOMAIN;
ATOMIC-RESOLUTION; HYDROPHOBIC CORE; CALBINDIN D-9K
AB Proteins with EF-hand calcium-binding motifs are essential for many cellular processes, but are also associated with cancer, autism, cardiac arrhythmias, and Alzheimer's, skeletal muscle and neuronal diseases. Functionally, all EF-hand proteins are divided into two groups: (1) calcium sensors, which function to translate the signal to various responses; and (2) calcium buffers, which control the level of free Ca2+ ions in the cytoplasm. The borderline between the two groups is not clear, and many proteins cannot be described as definitive buffers or sensors. Here, we describe two highly-conserved structural motifs found in all known different families of the EF-hand proteins. The two motifs provide a supporting scaffold for the DxDxDG calcium binding loop and contribute to the hydrophobic core of the EF hand domain. The motifs allow more precise identification of calcium buffers and calcium sensors. Based on the characteristics of the two motifs, we could classify individual EF-hand domains into five groups: (1) Open static; (2) Closed static; (3) Local dynamic; (4) Dynamic; and (5) Local static EF-hand domains.
C1 [Denessiouk, Konstantin; Denesyuk, Alexander; Johnson, Mark S.] Abo Akad Univ, Dept Biosci, Turku, Finland.
[Permyakov, Sergei; Permyakov, Eugene] Russian Acad Sci, Inst Biol Instrumentat, Pushchino 142292, Russia.
RP Denessiouk, K (reprint author), Abo Akad Univ, Dept Biosci, Turku, Finland.
EM kdenessi@abo.fi
FU Stiftelsens for Abo Akademi Forskningsinstitut; Abo Akademi University
Center of Excellence Program in Cell Stress and Aging; Sigrid Juselius
Foundation; Joe, Pentti and Tor Borg Memorial Fund; Academy of Finland
(Bioinformatics Infrastructure Program of Biocenter Finland and FIRI
program); Molecular and Cellular Biology Program of the Russian Academy
of Sciences
FX This work was supported in part by grants from the Stiftelsens for Abo
Akademi Forskningsinstitut, Abo Akademi University Center of Excellence
Program in Cell Stress and Aging, the Sigrid Juselius Foundation, the
Joe, Pentti and Tor Borg Memorial Fund, the Academy of Finland
(Bioinformatics Infrastructure Program of Biocenter Finland and FIRI
program), and by a grant from the Molecular and Cellular Biology Program
of the Russian Academy of Sciences (EP). The funders had no role in
study design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
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JI PLoS One
PD OCT 14
PY 2014
VL 9
IS 10
AR e109287
DI 10.1371/journal.pone.0109287
PG 14
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AR5ZW
UT WOS:000343662500029
PM 25313560
ER
PT J
AU Palmnas, MSA
Cowan, TE
Bomhof, MR
Su, J
Reimer, RA
Vogel, HJ
Hittel, DS
Shearer, J
AF Palmnaes, Marie S. A.
Cowan, Theresa E.
Bomhof, Marc R.
Su, Juliet
Reimer, Raylene A.
Vogel, Hans J.
Hittel, Dustin S.
Shearer, Jane
TI Low-Dose Aspartame Consumption Differentially Affects Gut
Microbiota-Host Metabolic Interactions in the Diet-Induced Obese Rat
SO PLOS ONE
LA English
DT Article
ID AUTISM SPECTRUM DISORDER; PROTEIN-COUPLED RECEPTOR; INTESTINAL
MICROBIOTA; PROPIONIC-ACID; FATTY-ACIDS; RISK; ECOLOGY; ABSORPTION;
PROFILES; PRODUCT
AB Aspartame consumption is implicated in the development of obesity and metabolic disease despite the intention of limiting caloric intake. The mechanisms responsible for this association remain unclear, but may involve circulating metabolites and the gut microbiota. Aims were to examine the impact of chronic low-dose aspartame consumption on anthropometric, metabolic and microbial parameters in a diet- induced obese model. Male Sprague-Dawley rats were randomized into a standard chow diet (CH, 12% kcal fat) or high fat (HF, 60% kcal fat) and further into ad libitum water control (W) or low-dose aspartame (A, 5-7 mg/kg/d in drinking water) treatments for 8 week (n = 10-12 animals/treatment). Animals on aspartame consumed fewer calories, gained less weight and had a more favorable body composition when challenged with HF compared to animals consuming water. Despite this, aspartame elevated fasting glucose levels and an insulin tolerance test showed aspartame to impair insulin-stimulated glucose disposal in both CH and HF, independently of body composition. Fecal analysis of gut bacterial composition showed aspartame to increase total bacteria, the abundance of Enterobacteriaceae and Clostridium leptum. An interaction between HF and aspartame was also observed for Roseburia ssp wherein HF-A was higher than HF-W (P<0.05). Within HF, aspartame attenuated the typical HF-induced increase in the Firmicutes:Bacteroidetes ratio. Serum metabolomics analysis revealed aspartame to be rapidly metabolized and to be associated with elevations in the short chain fatty acid propionate, a bacterial end product and highly gluconeogenic substrate, potentially explaining its negative affects on insulin tolerance. How aspartame influences gut microbial composition and the implications of these changes on the development of metabolic disease require further investigation.
C1 [Palmnaes, Marie S. A.; Reimer, Raylene A.; Vogel, Hans J.; Hittel, Dustin S.; Shearer, Jane] Univ Calgary, Dept Biochem & Mol Biol, Calgary, AB, Canada.
[Palmnaes, Marie S. A.; Su, Juliet; Vogel, Hans J.] Univ Calgary, Dept Biol Sci, Calgary, AB T2N 1N4, Canada.
[Cowan, Theresa E.; Bomhof, Marc R.; Reimer, Raylene A.; Hittel, Dustin S.; Shearer, Jane] Univ Calgary, Fac Kinesiol, Calgary, AB, Canada.
RP Palmnas, MSA (reprint author), Univ Calgary, Dept Biochem & Mol Biol, Calgary, AB, Canada.
EM msapalmn@ucalgary.ca
FU National Science and Engineering Council of Canada Discovery Grant
FX Research was funded by a National Science and Engineering Council of
Canada Discovery Grant. H.J.V. currently holds the Lance Armstrong Chair
for Molecular Cancer Research. J.S. is an Alberta Innovates Health
Solutions Scholar. 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 48
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 OCT 14
PY 2014
VL 9
IS 10
AR e109841
DI 10.1371/journal.pone.0109841
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AR5ZW
UT WOS:000343662500082
PM 25313461
ER
PT J
AU Duan, YT
Wang, SH
Song, J
Mironova, Y
Ming, GL
Kolodkin, AL
Giger, RJ
AF Duan, Yuntao
Wang, Shih-Hsiu
Song, Juan
Mironova, Yevgeniya
Ming, Guo-li
Kolodkin, Alex L.
Giger, Roman J.
TI Semaphorin 5A inhibits synaptogenesis in early postnatal- and adult-born
hippocampal dentate granule cells
SO ELIFE
LA English
DT Article
ID CHONDROITIN SULFATE PROTEOGLYCANS; LAMINA-RESTRICTED PROJECTION;
SYNAPTIC PLASTICITY; DENDRITIC SPINES; NEURAL CIRCUITS; MOUSE MODELS;
MOSSY FIBERS; NEURONS; AUTISM; RECEPTOR
AB Human SEMAPHORIN 5A (SEMA5A) is an autism susceptibility gene, however its function in brain development is unknown. Here we show that mouse Sema5A negatively regulates synaptogenesis in early, developmentally-born, hippocampal dentate granule cells (GCs). Sema5A is strongly expressed by GCs and regulates dendritic spine density in a cell-autonomous manner. In the adult mouse brain, newly born Sema5A(-/-) GCs show an increase in dendritic spine density and increased AMPA-type synaptic responses. Sema5A signals through PlexinA2 co-expressed by GCs, and the PlexinA2-RasGAP activity is necessary to suppress spinogenesis. Like Sema5A(-/-) mutants, Plxna2(-/-) mice show an increase in GC glutamatergic synapses, and we show that Sema5A and Plxna2 genetically interact with respect to GC spine phenotypes. Sema5A(-/-) mice display deficits in social interaction, a hallmark of autism-spectrum-disorders. These experiments identify novel intra-dendritic Sema5A/PlexinA2 interactions that inhibit excitatory synapse formation in developmentally- and adult-born GCs, and they provide support for SEMA5A contributions to autism-spectrum-disorders.
C1 [Duan, Yuntao; Mironova, Yevgeniya; Giger, Roman J.] Univ Michigan, Sch Med, Dept Cell & Dev Biol, Ann Arbor, MI 48109 USA.
[Giger, Roman J.] Univ Michigan, Sch Med, Dept Neurol, Ann Arbor, MI 48109 USA.
[Wang, Shih-Hsiu; Song, Juan; Ming, Guo-li; Kolodkin, Alex L.] Johns Hopkins Univ, Sch Med, Solomon H Snyder Dept Neurosci, Baltimore, MD 21218 USA.
[Song, Juan; Ming, Guo-li] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21218 USA.
[Wang, Shih-Hsiu; Kolodkin, Alex L.] Howard Hughes Med Inst, Chevy Chase, MD USA.
RP Kolodkin, AL (reprint author), Johns Hopkins Univ, Sch Med, Solomon H Snyder Dept Neurosci, Baltimore, MD 21218 USA.
EM kolodkin@jhmi.edu; rgiger@umich.edu
FU Maryland Stem Cell Research Fund; Miriam and Sheldon Adelson Medical
Research Foundation; [NS048271]; [HD069184]; [MH59199]; [NS081281]
FX We thank Yutaka Yoshida for providing us with the Plxna1-/-,
Plxna2-/- and Plxna3-/- mice, Fumikazu Suto for
PlexA2SD-Fc and PlexA4SD-Fc constructs and
anti-PlexA2 antiserum, and Andreas Puschel for the PlexA1(RasGAP-RR)
construct. We thank Onanong Chivatakarn and Ryota Matsuoka for their
help with the initial analysis of the Sema5A hippocampal formation,
Martin Riccomagno for assistance with viral vector injections, Xiao-Feng
Zhao for help with histochemical proceduers, and Dontais Johnson for
technical assistance. We thank Alcino Silva, Jack Parent, and members of
the Kolodkin and Giger laboratories for critical reading of the
manuscript. This work is supported by the Maryland Stem Cell Research
Fund (J.S. and G-I.M.); NS048271 and HD069184 (G-I.M.); MH59199
(A.L.K.); NS081281 (R.J.G.); and the Dr. Miriam and Sheldon Adelson
Medical Research Foundation (G-I.M. and R.J.G.). A.L.K. is an
investigator of the Howard Hughes Medical Institute.
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NR 57
TC 1
Z9 1
PU ELIFE SCIENCES PUBLICATIONS LTD
PI CAMBRIDGE
PA SHERATON HOUSE, CASTLE PARK, CAMBRIDGE, CB3 0AX, ENGLAND
SN 2050-084X
J9 ELIFE
JI eLife
PD OCT 14
PY 2014
VL 3
DI 10.7554/eLife.04390
PG 64
WC Biology
SC Life Sciences & Biomedicine - Other Topics
GA AR2MN
UT WOS:000343421600001
ER
PT J
AU Yasumura, M
Yoshida, T
Yamazaki, M
Abe, M
Natsume, R
Kanno, K
Uemura, T
Takao, K
Sakimura, K
Kikusui, T
Miyakawa, T
Mishina, M
AF Yasumura, Misato
Yoshida, Tomoyuki
Yamazaki, Maya
Abe, Manabu
Natsume, Rie
Kanno, Kouta
Uemura, Takeshi
Takao, Keizo
Sakimura, Kenji
Kikusui, Takefumi
Miyakawa, Tsuyoshi
Mishina, Masayoshi
TI IL1RAPL1 knockout mice show spine density decrease, learning deficiency,
hyperactivity and reduced anxiety-like behaviours
SO SCIENTIFIC REPORTS
LA English
DT Article
ID LINKED MENTAL-RETARDATION; ACCESSORY PROTEIN-LIKE; EXCITATORY SYNAPSE
FORMATION; TYROSINE-PHOSPHATASE DELTA; INTELLECTUAL DISABILITY;
TRANSSYNAPTIC INTERACTION; GENETIC-BASIS; PTP-DELTA; RECEPTOR; FAMILY
AB IL-1 receptor accessory protein-like 1 (IL1RAPL1) is responsible for nonsyndromic intellectual disability and is associated with autism. IL1RAPL1 mediates excitatory synapse formation through trans-synaptic interaction with PTP delta. Here, we showed that the spine density of cortical neurons was significantly reduced in IL1RAPL1 knockout mice. The spatial reference and working memories and remote fear memory were mildly impaired in IL1RAPL1 knockout mice. Furthermore, the behavioural flexibility was slightly reduced in the T-maze test. Interestingly, the performance of IL1RAPL1 knockout mice in the rotarod test was significantly better than that of wild-type mice. Moreover, IL1RAPL1 knockout mice consistently exhibited high locomotor activity in all the tasks examined. In addition, open-space and height anxiety-like behaviours were decreased in IL1RAPL1 knockout mice. These results suggest that IL1RAPL1 ablation resulted in spine density decrease and affected not only learning but also behavioural flexibility, locomotor activity and anxiety.
C1 [Yasumura, Misato; Yoshida, Tomoyuki; Uemura, Takeshi; Mishina, Masayoshi] Univ Tokyo, Grad Sch Med, Dept Mol Neurobiol & Pharmacol, Tokyo, Japan.
[Yasumura, Misato] Univ Yamanashi, Liaison Acad, Sch Med, Chuo Ku, Yamanashi, Japan.
[Yoshida, Tomoyuki] Toyama Univ, Grad Sch Med & Pharmaceut Sci, Dept Mol Neurosci, Toyama 930, Japan.
[Yoshida, Tomoyuki] Japan Sci & Technol Agcy, PRESTO, Kawaguchi, Saitama, Japan.
[Yamazaki, Maya; Abe, Manabu; Natsume, Rie; Sakimura, Kenji] Niigata Univ, Brain Res Inst, Dept Cellular Neurobiol, Niigata, Japan.
[Kanno, Kouta; Kikusui, Takefumi] Azabu Univ, Sch Vet Med, Sagamihara, Kanagawa, Japan.
[Uemura, Takeshi] Shinshu Univ, Sch Med, Dept Mol & Cellular Physiol, Matsumoto, Nagano, Japan.
[Takao, Keizo; Miyakawa, Tsuyoshi] Natl Inst Phys Sci, Ctr Genet Anal Behav, Sect Behav Patterns, Okazaki, Aichi, Japan.
[Miyakawa, Tsuyoshi] Fujita Hlth Univ, Inst Comprehens Med Sci, Div Syst Med Sci, Toyoake, Aichi, Japan.
[Mishina, Masayoshi] Ritsumeikan Univ, Res Org Sci & Technol, Brain Sci Lab, Kusatsu, Shiga, Japan.
RP Mishina, M (reprint author), Univ Tokyo, Grad Sch Med, Dept Mol Neurobiol & Pharmacol, Tokyo, Japan.
EM mmishina@fc.ritsumei.ac.jp
FU Ministry of Education, Culture, Sports, Science and Technology (MEXT) of
Japan [24249014, 22123008, 221S0003]; Japan Society for the Promotion of
Science (JSPS)
FX We thank T. Shiroshima, T. Kise, A. Nakakihara, M. Ishikawa and A. Imai
for technical assistance, and I. Yabe and E. Kushiya for help in
generation of IL1RAPL1 knockout mice. This work was supported by
Grant-in-Aid for Scientific Research (A) (KAKENHI Grant Number 24249014)
and Grant-in-Aid for Scientific Research on Innovative Areas (KAKENHI
Grant Numbers 22123008 and 221S0003) from the Ministry of Education,
Culture, Sports, Science and Technology (MEXT) of Japan and Japan
Society for the Promotion of Science (JSPS).
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NR 54
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2045-2322
J9 SCI REP-UK
JI Sci Rep
PD OCT 14
PY 2014
VL 4
AR 6613
DI 10.1038/srep06613
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AQ8OG
UT WOS:000343086000001
PM 25312502
ER
PT J
AU Tian, Y
Voineagu, I
Pasca, SP
Won, HJ
Chandran, V
Horvath, S
Dolmetsch, RE
Geschwind, DH
AF Tian, Yuan
Voineagu, Irina
Pasca, Sergiu P.
Won, Hyejung
Chandran, Vijayendran
Horvath, Steve
Dolmetsch, Ricardo E.
Geschwind, Daniel H.
TI Alteration in basal and depolarization induced transcriptional network
in iPSC derived neurons from Timothy syndrome
SO GENOME MEDICINE
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; JOUBERT-SYNDROME; GENE-EXPRESSION;
INTELLECTUAL DISABILITY; OVER-REPRESENTATION; HIPPOCAMPAL-NEURONS;
SYNAPTIC ACTIVITY; CALCIUM-CHANNELS; AXON GROWTH; CREB
AB Background: Common genetic variation and rare mutations in genes encoding calcium channel subunits have pleiotropic effects on risk for multiple neuropsychiatric disorders, including autism spectrum disorder (ASD) and schizophrenia. To gain further mechanistic insights by extending previous gene expression data, we constructed co-expression networks in Timothy syndrome (TS), a monogenic condition with high penetrance for ASD, caused by mutations in the L-type calcium channel, Ca(v)1.2.
Methods: To identify patient-specific alterations in transcriptome organization, we conducted a genome-wide weighted co-expression network analysis (WGCNA) on neural progenitors and neurons from multiple lines of induced pluripotent stem cells (iPSC) derived from normal and TS (G406R in CACNA1C) individuals. We employed transcription factor binding site enrichment analysis to assess whether TS associated co-expression changes reflect calcium-dependent co-regulation.
Results: We identified reproducible developmental and activity-dependent gene co-expression modules conserved in patient and control cell lines. By comparing cell lines from case and control subjects, we also identified co-expression modules reflecting distinct aspects of TS, including intellectual disability and ASD-related phenotypes. Moreover, by integrating co-expression with transcription factor binding analysis, we showed the TS-associated transcriptional changes were predicted to be co-regulated by calcium-dependent transcriptional regulators, including NFAT, MEF2, CREB, and FOXO, thus providing a mechanism by which altered Ca2+ signaling in TS patients leads to the observed molecular dysregulation.
Conclusions: We applied WGCNA to construct co-expression networks related to neural development and depolarization in iPSC-derived neural cells from TS and control individuals for the first time. These analyses illustrate how a systems biology approach based on gene networks can yield insights into the molecular mechanisms of neural development and function, and provide clues as to the functional impact of the downstream effects of Ca2+ signaling dysregulation on transcription.
C1 [Tian, Yuan; Won, Hyejung; Chandran, Vijayendran; Geschwind, Daniel H.] Univ Calif Los Angeles, David Geffen Sch Med, Ctr Autism Res & Treatment, Semel Inst,Dept Neurol,Neurogenet Program, Los Angeles, CA 90095 USA.
[Tian, Yuan; Geschwind, Daniel H.] Univ Calif Los Angeles, Interdept PhD Program Bioinformat, Los Angeles, CA 90095 USA.
[Voineagu, Irina] Univ New S Wales, Sch Biotechnol & Biomol Sci, Sydney, NSW 2052, Australia.
[Pasca, Sergiu P.] Stanford Univ, Sch Med, Ctr Sleep Sci & Med, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA.
[Horvath, Steve; Geschwind, Daniel H.] Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA.
[Dolmetsch, Ricardo E.] Stanford Univ, Dept Neurobiol, Stanford, CA 94305 USA.
[Dolmetsch, Ricardo E.] Novartis Inst Biomed Res, Cambridge, MA 02139 USA.
RP Geschwind, DH (reprint author), Univ Calif Los Angeles, David Geffen Sch Med, Ctr Autism Res & Treatment, Semel Inst,Dept Neurol,Neurogenet Program, Los Angeles, CA 90095 USA.
EM dhg@mednet.ucla.edu
FU NIMH [5R01MH094714, 5R37MH060233, 5R01MH100027]; China Scholarship
Council; UCLA Graduate Division's Dissertation
FX We are grateful to A. Suleman for technical support on TFBS enrichment
analysis; N. N. Parikshak, and L. de la Torre-Ubieta for helpful
discussions and critical reading of the manuscript. This work is
supported by NIMH grants to DHG (5R01MH094714, 5R37MH060233, MERiT
award, and 5R01MH100027, Autism Center for Excellence network grant). YT
was supported by fellowships from the China Scholarship Council and UCLA
Graduate Division's Dissertation Year Fellowship.
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NR 87
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1756-994X
J9 GENOME MED
JI Genome Med.
PD OCT 10
PY 2014
VL 6
AR 75
DI 10.1186/s13073-014-0075-5
PG 16
WC Genetics & Heredity
SC Genetics & Heredity
GA AS9MY
UT WOS:000344567900001
PM 25360157
ER
PT J
AU Cappi, C
Hounie, AG
Mariani, DB
Diniz, JB
Silva, ART
Reis, VNS
Busso, AF
Silva, AG
Fidalgo, F
Rogatto, SR
Miguel, EC
Krepischi, AC
Brentani, H
AF Cappi, Carolina
Hounie, Ana Gabriela
Mariani, Daniel B.
Diniz, Juliana Belo
Silva, Aderbal R. T.
Reis, Viviane N. S.
Busso, Ariane F.
Silva, Amanda Goncalves
Fidalgo, Felipe
Rogatto, Silvia Regina
Miguel, Euripedes C.
Krepischi, Ana C.
Brentani, Helena
TI An Inherited Small Microdeletion at 15q13.3 in a Patient with Early-
Onset Obsessive-Compulsive Disorder
SO PLOS ONE
LA English
DT Article
ID COPY NUMBER VARIATION; AUTISM SPECTRUM DISORDERS; DE-NOVO CNVS; TOURETTE
SYNDROME; PSYCHIATRIC-DISORDERS; STRUCTURAL VARIATION;
MENTAL-RETARDATION; SCHIZOPHRENIA; GENES; VARIANTS
AB Copy number variations (CNVs) have been previously associated with several different neurodevelopmen al psychiatric disorders, such as autism, schizophrenia, and attention deficit hyperactivity disorder (ADHD). The present study consisted of pilot genorne-wide screen for CNVs in a cohort of 16 patients with early-onset obsessive-compulsive disorder (OCD) and 2 mentally healthy individuals, using array-based comparative enomic hybridization (aCGH) on 44K arrays. A small rare nal inherited microdeletion (-64 kb) was identified in chromosome 15q13.3 of one male patient with very early onset have OCD. The deletion encompassed part of the FA/IN1 gene, which is involved with the glutamatergic system This finding supports the hypothesis of a complex network of several genes expressed in the brain cant ibuting for h genetic risk of OCD, and also supports the glutamatergic involvement in OCD, which has been previsously reported in the literature.
C1 [Cappi, Carolina; Hounie, Ana Gabriela; Diniz, Juliana Belo; Silva, Aderbal R. T.; Reis, Viviane N. S.; Miguel, Euripedes C.; Brentani, Helena] Univ Sao Paulo, Sch Med, Inst & Dept Psychiat, Sao Paulo, Brazil.
[Mariani, Daniel B.] Univ Sao Paulo, Inst Math & Stat, Inter Inst Grad Program Bioinformat, Sao Paulo, Brazil.
[Silva, Amanda Goncalves; Fidalgo, Felipe; Krepischi, Ana C.] AC Camargo Canc Ctr, Int Res Ctr, Sao Paulo, Brazil.
[Rogatto, Silvia Regina] Sao Paulo State Univ, Sch Med, Sao Paulo, Brazil.
[Hounie, Ana Gabriela] Univ Fed Sao Paulo, UPIA, Sao Paulo, Brazil.
RP Cappi, C (reprint author), Univ Sao Paulo, Sch Med, Inst & Dept Psychiat, Sao Paulo, Brazil.
EM carolinacappi@gmail.com
FU Foundation for Research Support of the State of Sao Paulo (FAPESP)
[2008/11537-7]; Brazilian National Council for Scientific and
Technological Development (CNPq) [MCT/CNPq 14/2008]
FX This study was supported by grants to Dras Cappi and Brentani from the
Foundation for Research Support of the State of Sao Paulo (FAPESP);
grant number 2008/11537-7, and from the Brazilian National Council for
Scientific and Technological Development (CNPq; protocol number MCT/CNPq
14/2008). The funders had no role in study design, data collection and
analysis, decision to publish, or preparation of the manuscript.
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NR 58
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Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 10
PY 2014
VL 9
IS 10
AR e110198
DI 10.1371/journal.pone.0110198
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AR6ZS
UT WOS:000343730400121
PM 25303678
ER
PT J
AU Pellicano, E
Dinsmore, A
Charman, T
AF Pellicano, Elizabeth
Dinsmore, Adam
Charman, Tony
TI Views on Researcher-Community Engagement in Autism Research in the
United Kingdom: A Mixed-Methods Study
SO PLOS ONE
LA English
DT Article
ID PARTICIPATORY RESEARCH; CLINICAL-RESEARCH; HEALTH RESEARCH; INVOLVEMENT;
DISORDERS; SPECTRUM; EPIDEMIOLOGY; PARTNERSHIP; PREVALENCE; STRATEGIES
AB There has been a substantial increase in research activity on autism during the past decade. Research into effective ways of responding to the immediate needs of autistic people is, however, less advanced, as are efforts at translating basic science research into service provision. Involving community members in research is one potential way of reducing this gap. This study therefore investigated the views of community involvement in autism research both from the perspectives of autism researchers and of community members, including autistic adults, family members and practitioners. Results from a large-scale questionnaire study (n = 1,516) showed that researchers perceive themselves to be engaged with the autism community but that community members, most notably autistic people and their families, did not share this view. Focus groups/interviews with 72 participants further identified the potential benefits and remaining challenges to involvement in research, especially regarding the distinct perspectives of different stakeholders. Researchers were skeptical about the possibilities of dramatically increasing community engagement, while community members themselves spoke about the challenges to fully understanding and influencing the research process. We suggest that the lack of a shared approach to community engagement in UK autism research represents a key roadblock to translational endeavors.
C1 [Pellicano, Elizabeth; Dinsmore, Adam] Univ London, Inst Educ, Dept Psychol & Human Dev, CRAE, London WC1N 1AZ, England.
[Dinsmore, Adam] Wellcome Trust Res Labs, Strateg Planning & Policy Unit, London, England.
[Charman, Tony] Kings Coll London, Inst Psychiat, Dept Psychol, London, England.
RP Pellicano, E (reprint author), Univ London, Inst Educ, Dept Psychol & Human Dev, CRAE, London WC1N 1AZ, England.
EM l.pellicano@ioe.ac.uk
FU Inge Wakehurst Foundation; Charles Wolfson Foundation; Waterloo
Foundation
FX This work was funded by the Inge Wakehurst Foundation, the Charles
Wolfson Foundation, and The Waterloo Foundation. The funders had no role
in the design of the study, collection and analysis of the data, or
preparation and review of the manuscript.
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NR 50
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 10
PY 2014
VL 9
IS 10
AR e109946
DI 10.1371/journal.pone.0109946
PG 11
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AR6ZS
UT WOS:000343730400095
PM 25303222
ER
PT J
AU Bambini, V
Nunes, GD
Schneider, T
Gottfried, C
AF Bambini-Junior, Victorio
Nunes, Gustavo Della Flora
Schneider, Tomasz
Gottfried, Carmem
TI Comment on "Oxytocin-mediated GABA inhibition during delivery attenuates
autism pathogenesis in rodent offspring"
SO SCIENCE
LA English
DT Editorial Material
ID VALPROIC ACID EXPOSURE; FRAGILE-X-SYNDROME; SOCIAL-INTERACTION; PRENATAL
EXPOSURE; ANIMAL-MODEL; MICE
AB Tyzio et al. (Reports, 7 February 2014, p. 675) reported that bumetanide restored the impaired oxytocin-mediated g-aminobutyric acid (GABA) excitatory-inhibitory shift during delivery in animal models of autism, ameliorating some autistic-like characteristics in the offspring. However, standard practices in the study of these models, such as the use of sex-dimorphic or males-only analyses and implementation of tests measuring social behavior, are lacking to definitely associate their findings to autism.
C1 [Bambini-Junior, Victorio; Nunes, Gustavo Della Flora; Gottfried, Carmem] Univ Fed Rio Grande do Sul, Res Grp Neuroglial Plast, Dept Biochem, Inst Hlth Basic Sci, Porto Alegre, RS, Brazil.
[Bambini-Junior, Victorio; Nunes, Gustavo Della Flora; Gottfried, Carmem] Univ Fed Rio Grande do Sul, Translat Res Grp Autism Spectrum Disorders GETTEA, Porto Alegre, RS, Brazil.
[Schneider, Tomasz] Univ Durham, Sch Med Pharm & Hlth, Durham TS17 6BH, England.
RP Bambini, V (reprint author), Univ Fed Rio Grande do Sul, Res Grp Neuroglial Plast, Dept Biochem, Inst Hlth Basic Sci, Porto Alegre, RS, Brazil.
EM victoriobambini@gmail.com
RI Bambini-Junior, Victorio/O-7563-2014
CR Bambini V, 2011, BRAIN RES, V1408, P8, DOI 10.1016/j.brainres.2011.06.015
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Yizhar O, 2011, NATURE, V477, P171, DOI 10.1038/nature10360
NR 15
TC 0
Z9 0
PU AMER ASSOC ADVANCEMENT SCIENCE
PI WASHINGTON
PA 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA
SN 0036-8075
EI 1095-9203
J9 SCIENCE
JI Science
PD OCT 10
PY 2014
VL 346
IS 6206
DI 10.1126/science.1255679
PG 1
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AQ3VL
UT WOS:000342721500031
ER
PT J
AU Eftekhari, S
Shahrokhi, A
Tsintsadze, V
Nardou, R
Brouchoud, C
Conesa, M
Burnashev, N
Ferrari, DC
Ben-Ari, Y
AF Eftekhari, Sanaz
Shahrokhi, Amene
Tsintsadze, Vera
Nardou, Romain
Brouchoud, Corinne
Conesa, Magali
Burnashev, Nail
Ferrari, Diana C.
Ben-Ari, Yehezkel
TI Response to Comment on "Oxytocin-mediated GABA inhibition during
delivery attenuates autism pathogenesis in rodent offspring"
SO SCIENCE
LA English
DT Editorial Material
ID ANIMAL-MODEL; MOUSE MODEL; BEHAVIORS
AB Bambini-Junior et al. questioned whether our treatment in two rodent models of autism has a long-lasting effect into adulthood. In response, we show that bumetanide treatment around delivery attenuates autistic behavioral features in adult offspring. Therefore, the polarity of gamma-aminobutyric acid (GABA) actions during delivery exerts long-lasting priming actions after birth.
C1 [Eftekhari, Sanaz; Shahrokhi, Amene; Tsintsadze, Vera; Brouchoud, Corinne; Burnashev, Nail; Ben-Ari, Yehezkel] INSERM, U901, Mediterranean Inst Neurobiol INMED, F-13258 Marseille, France.
[Eftekhari, Sanaz; Shahrokhi, Amene; Tsintsadze, Vera; Brouchoud, Corinne; Burnashev, Nail; Ben-Ari, Yehezkel] Aix Marseille Univ, UMR 901, Marseille, France.
[Eftekhari, Sanaz; Shahrokhi, Amene; Nardou, Romain; Conesa, Magali; Ferrari, Diana C.; Ben-Ari, Yehezkel] Neurochlore, Marseille, France.
RP Ben-Ari, Y (reprint author), INSERM, U901, Mediterranean Inst Neurobiol INMED, F-13258 Marseille, France.
EM yehezkel.ben-ari@inserm.fr
CR Bambini V, 2011, BRAIN RES, V1408, P8, DOI 10.1016/j.brainres.2011.06.015
Bambini-Junior V., 2014, SCIENCE, V343, P176
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Lemonnier E, 2012, TRANSL PSYCHIAT, V2, DOI 10.1038/tp.2012.124
Mines MA, 2010, PLOS ONE, V5, DOI 10.1371/journal.pone.0009706
Pearson BL, 2011, GENES BRAIN BEHAV, V10, P228, DOI 10.1111/j.1601-183X.2010.00659.x
Peca J, 2011, NATURE, V472, P437, DOI 10.1038/nature09965
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Tyzio R, 2014, SCIENCE, V343, P675, DOI 10.1126/science.1247190
NR 9
TC 0
Z9 0
PU AMER ASSOC ADVANCEMENT SCIENCE
PI WASHINGTON
PA 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA
SN 0036-8075
EI 1095-9203
J9 SCIENCE
JI Science
PD OCT 10
PY 2014
VL 346
IS 6206
DI 10.1126/science.1256009
PG 2
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AQ3VL
UT WOS:000342721500032
ER
PT J
AU Dong, S
Walker, MF
Carriero, NJ
DiCola, M
Willsey, AJ
Ye, AY
Waqar, Z
Gonzalez, LE
Overton, JD
Frahm, S
Keaney, JF
Teran, NA
Dea, J
Mandell, JD
Bal, VH
Sullivan, CA
DiLullo, NM
Khalil, RO
Gockley, J
Yuksel, Z
Sertel, SM
Ercan-Sencicek, AG
Gupta, AR
Mane, SM
Sheldon, M
Brooks, AI
Roeder, K
Devlin, B
State, MW
Wei, LP
Sanders, SJ
AF Dong, Shan
Walker, Michael F.
Carriero, Nicholas J.
DiCola, Michael
Willsey, A. Jeremy
Ye, Adam Y.
Waqar, Zainulabedin
Gonzalez, Luis E.
Overton, John D.
Frahm, Stephanie
Keaney, John F., III
Teran, Nicole A.
Dea, Jeanselle
Mandell, Jeffrey D.
Bal, Vanessa Hus
Sullivan, Catherine A.
DiLullo, Nicholas M.
Khalil, Rehab O.
Gockley, Jake
Yuksel, Zafer
Sertel, Sinem M.
Ercan-Sencicek, A. Gulhan
Gupta, Abha R.
Mane, Shrikant M.
Sheldon, Michael
Brooks, Andrew I.
Roeder, Kathryn
Devlin, Bernie
State, Matthew W.
Wei, Liping
Sanders, Stephan J.
TI De Novo Insertions and Deletions of Predominantly Paternal Origin Are
Associated with Autism Spectrum Disorder
SO CELL REPORTS
LA English
DT Article
ID ZONE PROTEIN RIM1-ALPHA; MUTATIONS; NETWORKS; GENES
AB Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single-nucleotide variants (SNVs) to autism spectrum disorder (ASD). However, challenges in the reliable detection of de novo insertions and deletions (indels) have limited inclusion of these variants in prior analyses. By applying a robust indel detection method to WES data from 787 ASD families (2,963 individuals), we demonstrate that de novo frameshift indels contribute to ASD risk (OR = 1.6; 95% CI = 1.0-2.7; p = 0.03), are more common in female probands (p = 0.02), are enriched among genes encoding FMRP targets (p = 6 3 10(-9)), and arise predominantly on the paternal chromosome (p < 0.001). On the basis of mutation rates in probands versus unaffected siblings, we conclude that de novo frameshift indels contribute to risk in approximately 3% of individuals with ASD. Finally, by observing clustering of mutations in unrelated probands, we uncover two ASD-associated genes: KMT2E (MLL5), a chromatin regulator, and RIMS1, a regulator of synaptic vesicle release.
C1 [Dong, Shan; Ye, Adam Y.; Wei, Liping] Peking Univ, Sch Life Sci, Ctr Bioinformat, State Key Lab Prot & Plant Gene Res, Beijing 100871, Peoples R China.
[Dong, Shan; Willsey, A. Jeremy; Gockley, Jake; State, Matthew W.; Sanders, Stephan J.] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06520 USA.
[Walker, Michael F.; Willsey, A. Jeremy; Dea, Jeanselle; Mandell, Jeffrey D.; Bal, Vanessa Hus; Khalil, Rehab O.; State, Matthew W.; Sanders, Stephan J.] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA 94158 USA.
[Carriero, Nicholas J.] Yale Univ, Dept Comp Sci, WM Keck Biotechnol Resource Lab, Biomed High Performance Comp Ctr, New Haven, CT 06520 USA.
[DiCola, Michael; Frahm, Stephanie; Brooks, Andrew I.] Rutgers State Univ, Environm & Occupat Hlth Sci Inst, Piscataway, NJ 08854 USA.
[Ye, Adam Y.; Wei, Liping] Natl Inst Biol Sci, Beijing 102206, Peoples R China.
[Waqar, Zainulabedin; Gonzalez, Luis E.; Teran, Nicole A.; Sullivan, Catherine A.; DiLullo, Nicholas M.; Gupta, Abha R.; State, Matthew W.] Yale Univ, Sch Med, Ctr Child Study, New Haven, CT 06520 USA.
[Overton, John D.; Mane, Shrikant M.] Yale Univ, Sch Med, Yale Ctr Genom Anal, New Haven, CT 06520 USA.
[Overton, John D.] Regeneron Genet Ctr, Tarrytown, NY 10591 USA.
[Keaney, John F., III] Yale Univ, Sch Publ Hlth, Dept Chron Dis Epidemiol, New Haven, CT 06520 USA.
[Khalil, Rehab O.] Natl Res Ctr, Dept Res Children Special Needs, Cairo 11787, Egypt.
[Yuksel, Zafer] Gulhane Mil Med Acad, Dept Med Genet, TR-06010 Ankara, Turkey.
[Sertel, Sinem M.] Bilkent Univ, Dept Mol Biol & Genet, TR-06800 Ankara, Turkey.
[Ercan-Sencicek, A. Gulhan] Yale Univ, Dept Comp Sci, Yale Neurogenet Program, Dept Neurosurg, New Haven, CT 06520 USA.
[Gupta, Abha R.] Yale Univ, Sch Med, Dept Pediat, New Haven, CT 06520 USA.
[Sheldon, Michael] Rutgers State Univ, Dept Genet, Piscataway, NJ 08854 USA.
[Sheldon, Michael] Rutgers State Univ, Inst Human Genet, Piscataway, NJ 08854 USA.
[Roeder, Kathryn] Carnegie Mellon Univ, Dept Stat, Pittsburgh, PA 15213 USA.
[Roeder, Kathryn] Carnegie Mellon Univ, Ray & Stephanie Lane Ctr Computat Biol, Pittsburgh, PA 15213 USA.
[Devlin, Bernie] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA 15213 USA.
[State, Matthew W.] Yale Univ, Sch Med, Dept Psychiat, New Haven, CT 06520 USA.
RP State, MW (reprint author), Yale Univ, Sch Med, Dept Genet, 333 Cedar St, New Haven, CT 06520 USA.
EM matthew.state@ucsf.edu; weilp@mail.cbi.pku.edu.cn;
stephan.sanders@ucsf.edu
FU Simons Foundation; CIHR (DRA); HHMI (International Student Research
Fellowship); NIMH [R37 MH057881]; National Center for Research Resources
[UL1 TR000142, KL2 TR000140]; National Natural Science Foundation of
China [31025014]; Ministry of Science and Technology of China
[2012CB837600]
FX We are grateful to the families participating in the Simons Foundation
Autism Research Initiative (SFARI) Simplex Collection (SSC). We thank
the SSC principal investigators A.L. Beaudet, R. Bernier, J.
Constantino, E.H. Cook, Jr., E. Fombonne, D. Geschwind, D.E. Grice, A.
Klin, D.H. Ledbetter, C. Lord, C.L. Martin, D.M. Martin, R. Maxim, J.
Miles, O. Ousley, B. Peterson, J. Piggot, C. Saulnier, M.W. State, W.
Stone, J.S. Sutcliffe, C.A. Walsh, and E. Wijsman. We also thank the
coordinators and staff of the SSC clinical sites, the SFARI staff, the
Rutgers University Cell and DNA Repository for accessing biomaterials,
N. Buenaventura and L. Chow for their help in administering the project
at UCSF, and T. Brooks-Boone, N. Wright-Davis, and M. Wojciechowski for
their help in administering the project at Yale. This work was supported
by grants from the Simons Foundation (to M.W.S.), the CIHR (DRA to
A.J.W.), the HHMI (International Student Research Fellowship to S.J.S.),
the NIMH (R37 MH057881 to K.R. and B.D.), and the National Center for
Research Resources (UL1 TR000142 and KL2 TR000140 to A.G.E.). L.W. was
supported by the National Natural Science Foundation of China (no.
31025014) and the Ministry of Science and Technology of China (no.
2012CB837600).
CR Albers CA, 2011, GENOME RES, V21, P961, DOI 10.1101/gr.112326.110
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Zufferey F, 2012, J MED GENET, V49, P660, DOI 10.1136/jmedgenet-2012-101203
NR 27
TC 5
Z9 5
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 2211-1247
J9 CELL REP
JI Cell Reports
PD OCT 9
PY 2014
VL 9
IS 1
BP 16
EP 23
DI 10.1016/j.celrep.2014.08.068
PG 8
WC Cell Biology
SC Cell Biology
GA AS7YP
UT WOS:000344468100003
PM 25284784
ER
PT J
AU Kumar, M
Duda, JT
Hwang, WT
Kenworthy, C
Ittyerah, R
Pickup, S
Brodkin, ES
Gee, JC
Abel, T
Poptani, H
AF Kumar, Manoj
Duda, Jeffery T.
Hwang, Wei-Ting
Kenworthy, Charles
Ittyerah, Ranjit
Pickup, Stephen
Brodkin, Edward S.
Gee, James C.
Abel, Ted
Poptani, Harish
TI High Resolution Magnetic Resonance Imaging for Characterization of the
Neuroligin-3 Knock-in Mouse Model Associated with Autism Spectrum
Disorder
SO PLOS ONE
LA English
DT Article
ID WHITE-MATTER MICROSTRUCTURE; BALB/CJ MICE; DIFFUSION; SOCIABILITY;
CHILDREN; GENES; NLGN4; ABNORMALITIES; SEGMENTATION; PHENOTYPES
AB Autism spectrum disorders (ASD) comprise an etiologically heterogeneous set of neurodevelopmental disorders. Neuroligin-3 (NL-3) is a cell adhesion protein that mediates synapse development and has been implicated in ASD. We performed ex-vivo high resolution magnetic resonance imaging (MRI), including diffusion tensor imaging (DTI) and behavioral (social approach and zero maze) tests at 3 different time points (30, 50 and 70 days-of-age) on NL-3 and wild-type littermates to assess developmental brain abnormalities in NL-3 mice. MRI data were segmented in 39 different gray and white matter regions. Volumetric measurements, along with DTI indices from these segmented regions were also performed. After controlling for age and gender, the NL-3 knock-in animals demonstrated significantly reduced sociability and lower anxiety-related behavior in comparison to their wild type littermates. Significantly reduced volume of several white and gray matter regions in the NL-3 knock-in mice were also observed after considering age, gender and time point as covariates. These findings suggest that structural changes in the brain of NL-3 mice are induced by the mutation in the NL-3 gene. No significant differences in DTI indices were observed, which suggests that the NL-3 mutation may not have a profound effect on water diffusion as detected by DTI. The volumetric and DTI studies aid in understanding the biology of disrupting function on an ASD risk model and may assist in the development of imaging biomarkers for ASD.
C1 [Kumar, Manoj; Duda, Jeffery T.; Ittyerah, Ranjit; Pickup, Stephen; Gee, James C.; Poptani, Harish] Univ Penn, Dept Radiol, Perelman Sch Med, Philadelphia, PA 19104 USA.
[Hwang, Wei-Ting] Univ Penn, Ctr Clin Epidemiol & Biostat, Perelman Sch Med, Dept Biostat & Epidemiol, Philadelphia, PA 19104 USA.
[Kenworthy, Charles; Abel, Ted] Univ Penn, Dept Biol, Philadelphia, PA 19104 USA.
[Brodkin, Edward S.] Univ Penn, Dept Psychiat, Ctr Neurobiol & Behav, Perelman Sch Med, Philadelphia, PA 19104 USA.
RP Poptani, H (reprint author), Univ Penn, Dept Radiol, Perelman Sch Med, Philadelphia, PA 19104 USA.
EM Harish.Poptani@uphs.upenn.edu
FU Pennsylvania Department of Health (SAP) [4100042728]; [R01MH080718];
[R21HD058237]; [1P50MH096891 - subproject 6773]; [5-T32-MH017168]
FX This study was supported by R01MH080718 (ESB), R21HD058237 (HP),
1P50MH096891 -subproject 6773 (ESB and TA), 5-T32-MH017168 (TA) and the
Pennsylvania Department of Health (SAP # 4100042728, TA and ESB). 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 44
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 9
PY 2014
VL 9
IS 10
AR e109872
DI 10.1371/journal.pone.0109872
PG 11
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AS0AP
UT WOS:000343941200079
PM 25299583
ER
PT J
AU Lin, LY
AF Lin, Ling-Yi
TI Quality of Life of Taiwanese Adults with Autism Spectrum Disorder
SO PLOS ONE
LA English
DT Article
ID INTELLECTUAL DISABILITIES; EMPLOYMENT; INDIVIDUALS; CHILDHOOD; MEN
AB Background: To date, few recent studies have investigated the quality of life of adults with autism spectrum disorder (ASD). It remains unclear how individuals with ASD view their own quality of life.
Objective: The primary purpose of this study was to compare the quality of life scores among adults with ASD with those of a non-ASD control group and the Taiwanese health population reference group.
Methods: The study comprised 41 adults with ASD (M age = 26.9, SD = 5.0), and without intellectual disabilities (IQ>70). A comparison sample of 41 adults without ASD was selected by matching the age and sex of the participants with ASD. A validated measure, the Taiwanese version of the World Health Organization Quality of Life-BREF (WHOQOL-BREF), was used. Independent t-tests were performed to examine the differences in the quality of life between groups.
Results: The highest quality of life was scored in the environment domain, followed by the physical health and psychological health domains. The lowest quality of life score was found in the social relationship domain. Adults with ASD scored significantly lower in all domains than did the non-ASD control group. Additionally, adults with ASD scored significantly lower in the physical health, psychological health, and social relationship domains than did the Taiwanese health population reference group. Comorbid psychiatric disorders, self-rated health status, and perceived happiness were correlated with quality of life among adults with ASD.
Conclusion: The preliminary findings suggest that adults with ASD need more supportive social contexts and interventions to promote their quality of life. Based on our findings, social relationship must be considered in designing and applying treatment programs for adults with ASD.
C1 Natl Cheng Kung Univ, Coll Med, Dept Occupat Therapy, Tainan 70101, Taiwan.
RP Lin, LY (reprint author), Natl Cheng Kung Univ, Coll Med, Dept Occupat Therapy, Tainan 70101, Taiwan.
EM lingyi@mail.ncku.edu.tw
FU Taiwan National Science Council [NSC 101-2815-C-006-083-B, NSC
102-2314-B-006-068]
FX Support for this research was provided by grant NSC 101-2815-C-006-083-B
and NSC 102-2314-B-006-068 from the Taiwan National Science Council. The
funder had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 34
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 OCT 9
PY 2014
VL 9
IS 10
AR e109567
DI 10.1371/journal.pone.0109567
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AS0AP
UT WOS:000343941200061
PM 25299379
ER
PT J
AU Park, MJ
Aja, S
Li, Q
Degano, AL
Penati, J
Zhuo, J
Roe, CR
Ronnett, GV
AF Park, Min Jung
Aja, Susan
Li, Qun
Degano, Alicia L.
Penati, Judith
Zhuo, Justin
Roe, Charles R.
Ronnett, Gabriele V.
TI Anaplerotic Triheptanoin Diet Enhances Mitochondrial Substrate Use to
Remodel the Metabolome and Improve Lifespan, Motor Function, and
Sociability in MeCP2-Null Mice
SO PLOS ONE
LA English
DT Article
ID FAT OXIDATION DISORDERS; CPG-BINDING PROTEIN-2; RETT-SYNDROME; MOUSE
MODEL; PHOSPHOENOLPYRUVATE CARBOXYKINASE; PERMEABILITY TRANSITION;
ENTERAL METABOLISM; REPERFUSION INJURY; DISEASE; DYSFUNCTION
AB Rett syndrome (RTT) is an autism spectrum disorder (ASD) caused by mutations in the X-linked MECP2 gene that encodes methyl-CpG binding protein 2 (MeCP2). Symptoms range in severity and include psychomotor disabilities, seizures, ataxia, and intellectual disability. Symptom onset is between 6-18 months of age, a critical period of brain development that is highly energy-dependent. Notably, patients with RTT have evidence of mitochondrial dysfunction, as well as abnormal levels of the adipokines leptin and adiponectin, suggesting overall metabolic imbalance. We hypothesized that one contributor to RTT symptoms is energy deficiency due to defective nutrient substrate utilization by the TCA cycle. This energy deficit would lead to a metabolic imbalance, but would be treatable by providing anaplerotic substrates to the TCA cycle to enhance energy production. We show that dietary therapy with triheptanoin significantly increased longevity and improved motor function and social interaction in male mice hemizygous for Mecp2 knockout. Anaplerotic therapy in Mecp2 knockout mice also improved indicators of impaired substrate utilization, decreased adiposity, increased glucose tolerance and insulin sensitivity, decreased serum leptin and insulin, and improved mitochondrial morphology in skeletal muscle. Untargeted metabolomics of liver and skeletal muscle revealed increases in levels of TCA cycle intermediates with triheptanoin diet, as well as normalizations of glucose and fatty acid biochemical pathways consistent with the improved metabolic phenotype in Mecp2 knockout mice on triheptanoin. These results suggest that an approach using dietary supplementation with anaplerotic substrate is effective in improving symptoms and metabolic health in RTT.
C1 [Park, Min Jung; Aja, Susan; Li, Qun; Degano, Alicia L.; Roe, Charles R.; Ronnett, Gabriele V.] Johns Hopkins Univ, Sch Med, Ctr Metab & Obes Res, Baltimore, MD 21218 USA.
[Park, Min Jung; Aja, Susan; Li, Qun; Degano, Alicia L.; Penati, Judith; Zhuo, Justin; Roe, Charles R.; Ronnett, Gabriele V.] Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD USA.
[Ronnett, Gabriele V.] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD USA.
[Ronnett, Gabriele V.] Johns Hopkins Univ, Sch Med, Dept Biol Chem, Baltimore, MD 21205 USA.
[Degano, Alicia L.] Univ Nacl Cordoba, CIQUIBIC CONICET, Dept Quim Biol, RA-5000 Cordoba, Argentina.
[Ronnett, Gabriele V.] DGIST, Dept Brain Sci, Taegu, South Korea.
RP Aja, S (reprint author), Johns Hopkins Univ, Sch Med, Ctr Metab & Obes Res, Baltimore, MD 21218 USA.
EM saja1@jhmi.edu
FU SA; Daegu-Gyeongbuk Institute of Science and Technology (DGIST)
Convergence Science Center - Korean Ministry of Education, Science, and
Technology [10-BD-04]; National Institutes of Health National Institute
of Neurological Disorders and Stroke [R01 NS041079]; Agilent
Technologies Research [2703]
FX This work was supported by a Research Collaboration between SA and the
Daegu-Gyeongbuk Institute of Science and Technology (DGIST) Convergence
Science Center, funded by grant #10-BD-04 from Korean Ministry of
Education, Science, and Technology; by National Institutes of Health
National Institute of Neurological Disorders and Stroke Grant R01
NS041079 to GVR; and by Agilent Technologies Research Gift #2703 to GVR.
The funders had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 9
PY 2014
VL 9
IS 10
AR e109527
DI 10.1371/journal.pone.0109527
PG 22
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AS0AP
UT WOS:000343941200056
PM 25299635
ER
PT J
AU Nakajima, M
Gorlich, A
Heintz, N
AF Nakajima, Miho
Goerlich, Andreas
Heintz, Nathaniel
TI Oxytocin Modulates Female Sociosexual Behavior through a Specific Class
of Prefrontal Cortical Interneurons
SO CELL
LA English
DT Article
ID TRANSLATIONAL PROFILING APPROACH; CNS CELL-TYPES; GABAERGIC NEURONS;
ESTROUS-CYCLE; AFFILIATIVE BEHAVIOR; GENE-EXPRESSION; SOCIAL-BEHAVIOR;
CEREBRAL-CORTEX; BRAIN-FUNCTION; DRIVER LINES
AB Human imaging studies have revealed that intranasal administration of the "prosocial" hormone oxytocin (OT) activates the frontal cortex, and this action of OT correlates with enhanced brain function in autism. Here, we report the discovery of a population of somatostatin (Sst)-positive, regular spiking interneurons that express the oxytocin receptor (OxtrINs). Silencing of OxtrINs in the medial prefrontal cortex (mPFC) of female mice resulted in loss of social interest in male mice specifically during the sexually receptive phase of the estrous cycle. This sociosexual deficit was also present in mice in which the Oxtr gene was conditionally deleted from the mPFC and in control mice infused with an Oxtr antagonist. Our data demonstrate a gender-, cell type-, and state-specific role for OT/Oxtr signaling in the mPFC and identify a latent cortical circuit element that may modulate other complex social behaviors in response to OT.
C1 [Nakajima, Miho; Goerlich, Andreas; Heintz, Nathaniel] Rockefeller Univ, Howard Hughes Med Inst, Mol Biol Lab, New York, NY 10065 USA.
RP Heintz, N (reprint author), Rockefeller Univ, Howard Hughes Med Inst, Mol Biol Lab, 1230 York Ave, New York, NY 10065 USA.
EM heintz@rockefeller.edu
FU Howard Hughes Medical Institute; NIH PHS [MH090963 P2]
FX This work was supported by the Howard Hughes Medical Institute and NIH
PHS MH090963 P2 (N.H. is an HHMI Investigator). We wish to thank Guojun
Ma and Clint Earnheart for their contributions to the initial
characterization of bacTRAP lines targeting cortical interneuron
populations and the GENSAT Project for the Htr3a Cre mice used in this
study. We would also like to thank Jie Xing, Paola Emhardt, and Beatriz
Lopez for their skilled assistance, Soohyun Lee, Robin Tremblay, Eric
Schmidt, Joseph Doughterty, Jodi Gresack, Hirofumi Nakayama, Awni Mousa
and all other Heintz lab members for their excellent advice, and
Wenxiang Zhang from the Rockefeller University Genomics Resource Center
for help with the TRAP data production.
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NR 69
TC 4
Z9 4
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0092-8674
EI 1097-4172
J9 CELL
JI Cell
PD OCT 9
PY 2014
VL 159
IS 2
BP 295
EP 305
DI 10.1016/j.cell.2014.09.020
PG 11
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA AQ8QU
UT WOS:000343095600012
PM 25303526
ER
PT J
AU Colombo, M
Stankevicius, A
Series, P
AF Colombo, Matteo
Stankevicius, Aistis
Series, Peggy
TI Benefits of social vs. non-social feedback on learning and generosity.
Results from the Tipping Game
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE social/non-social feedback; facial expressions; social norms; tipping
behavior; associative learning
ID DECISION-MAKING; FACIAL EXPRESSIONS; ASPERGER-SYNDROME; REWARD;
PUNISHMENT; EMPATHY; AUTISM; HUMANS; ADULTS; WOMEN
AB Although much work has recently been directed at understanding social decision-making, relatively little is known about how different types of feedback impact adaptive changes in social behavior. To address this issue quantitatively, we designed a novel associative learning task called the "Tipping Game," in which participants had to learn a social norm of tipping in restaurants. Participants were found to make more generous decisions from feedback in the form of facial expressions, in comparison to feedback in the form of symbols such as ticks and crosses. Furthermore, more participants displayed learning in the condition where they received social feedback than participants in the non-social condition. Modeling results showed that the pattern of performance displayed by participants receiving social feedback could be explained by a lower sensitivity to economic costs.
C1 [Colombo, Matteo] Tilburg Univ, Tilburg Ctr Log Gen Eth & Philosophy Sci, NL-5000 LE Tilburg, Netherlands.
[Stankevicius, Aistis; Series, Peggy] Univ Edinburgh, Inst Adapt & Neural Computat, Edinburgh, Midlothian, Scotland.
RP Colombo, M (reprint author), Tilburg Univ, Tilburg Ctr Log Gen Eth & Philosophy Sci, POB 90153, NL-5000 LE Tilburg, Netherlands.
EM m.colombo@uvt.nl
FU New Frameworks of Rationality [OPP 15161]; Aistis Stankevicius
[EP/F500385/1, BB/1252925411]; University of Edinburgh School of
informatics
FX We are grateful to Luigi Acerbi, Bruno Averbeck, Jun Lai, Aaron Seitz,
and Vincent Valton fir useful discussions and feedback on previous
drafts of this paper. Matteo Colombo was supported by the Deutsche
Forschungsgemeinschaft (ING) as part of the priority program "New
Frameworks of Rationality" OPP 15161). Aistis Stankevicius was supported
in part by grants EP/F500385/1. and BB/1252925411 for the University of
Edinburgh School of informatics Doctoral Training Centre in
Neuroinformatics and Compu tational Neuroscience, from the UK
Engineering and Physical Sciences Research Council (EPSRC), UK
Biotechnology and Biological Sciences Research Council (BBSRC), and the
UK Medical Research Council (MRC). The funders had no role in study
design, data collection and analysis, decision to publish, or
preparation of tne manuscript.
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NR 46
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD OCT 9
PY 2014
VL 5
AR 1154
DI 10.3389/fpsyg.2014.01154
PG 9
WC Psychology, Multidisciplinary
SC Psychology
GA AR0BB
UT WOS:000343226700001
PM 25346715
ER
PT J
AU Kolevzon, A
Angarita, B
Bush, L
Wang, AT
Frank, Y
Yang, A
Rapaport, R
Saland, J
Srivastava, S
Farrell, C
Edelmann, LJ
Buxbaum, JD
AF Kolevzon, Alexander
Angarita, Benjamin
Bush, Lauren
Wang, A. Ting
Frank, Yitzchak
Yang, Amy
Rapaport, Robert
Saland, Jeffrey
Srivastava, Shubhika
Farrell, Cristina
Edelmann, Lisa J.
Buxbaum, Joseph D.
TI Phelan-McDermid syndrome: a review of the literature and practice
parameters for medical assessment and monitoring
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Review
DE Phelan-McDermid syndrome; 22q13 deletion syndrome; SHANK3; Autism;
Autism spectrum disorder; Neurodevelopmental disorders; Practice
parameters
ID 22Q13 DELETION SYNDROME; AUTISM SPECTRUM DISORDERS; PREVIOUSLY
UNREPORTED ASSOCIATION; MOLECULAR CHARACTERIZATION;
PERICENTRIC-INVERSION; POSTSYNAPTIC DENSITY; DEVELOPMENTAL DELAY; MUTANT
MICE; SHANK3 GENE; CHROMOSOME-22
AB Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One example is SHANK3 on the terminal end of chromosome 22q. Loss of one functional copy of SHANK3 results in 22q13 deletion syndrome or Phelan-McDermid syndrome (PMS) and causes a monogenic form of ASD and/or ID with a frequency of 0.5% to 2% of cases. SHANK3 is the critical gene in this syndrome, and its loss results in disruption of synaptic function. With chromosomal microarray analyses now a standard of care in the assessment of ASD and developmental delay, and with the emergence of whole exome and whole genome sequencing in this context, identification of PMS in routine clinical settings will increase significantly. However, PMS remains a rare disorder, and the majority of physicians have never seen a case. While there is agreement about core deficits of PMS, there have been no established parameters to guide evaluation and medical monitoring of the syndrome. Evaluations must include a thorough history and physical and dysmorphology examination. Neurological deficits, including the presence of seizures and structural brain abnormalities should be assessed as well as motor deficits. Endocrine, renal, cardiac, and gastrointestinal problems all require assessment and monitoring in addition to the risk of recurring infections, dental and vision problems, and lymphedema. Finally, all patients should have cognitive, behavioral, and ASD evaluations. The objective of this paper is to address this gap in the literature and establish recommendations to assess the medical, genetic, and neurological features of PMS.
C1 [Kolevzon, Alexander; Angarita, Benjamin; Bush, Lauren; Wang, A. Ting; Frank, Yitzchak; Farrell, Cristina; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA.
[Kolevzon, Alexander; Angarita, Benjamin; Bush, Lauren; Wang, A. Ting; Frank, Yitzchak; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA.
[Kolevzon, Alexander; Frank, Yitzchak; Rapaport, Robert; Saland, Jeffrey; Srivastava, Shubhika; Farrell, Cristina] Icahn Sch Med Mt Sinai, Dept Pediat, New York, NY 10029 USA.
[Wang, A. Ting; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY 10029 USA.
[Frank, Yitzchak] Icahn Sch Med Mt Sinai, Dept Neurol, New York, NY 10029 USA.
[Yang, Amy; Edelmann, Lisa J.; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA.
[Rapaport, Robert] Icahn Sch Med Mt Sinai, Div Endocrinol & Diabet, New York, NY 10029 USA.
[Srivastava, Shubhika] Icahn Sch Med Mt Sinai, Dept Cardiol, New York, NY 10029 USA.
[Farrell, Cristina] Icahn Sch Med Mt Sinai, Div Behav Pediat, New York, NY 10029 USA.
[Kolevzon, Alexander; Wang, A. Ting; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY 10029 USA.
[Kolevzon, Alexander; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA.
RP Kolevzon, A (reprint author), Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, One Gustave L Levy Pl, New York, NY 10029 USA.
EM alexander.kolevzon@mssm.edu
FU Beatrice and Samuel A. Seaver Foundation; National Institute of Mental
Health [MH100276-01, MH089025]
FX This work was supported by grants from the Beatrice and Samuel A. Seaver
Foundation and the National Institute of Mental Health (MH100276-01 to
AK and MH089025 to JDB). We would like to thank Dr. Catalina Betancur
for her scholarly review and valued edits to the manuscript and Dr. Katy
Phelan for her review and suggestions. We would also like to thank the
many families that work closely with us to better understand
neurodevelopmental disability.
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NR 66
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD OCT 8
PY 2014
VL 6
AR 39
DI 10.1186/1866-1955-6-39
PG 12
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AW1DU
UT WOS:000346031600001
PM 25784960
ER
PT J
AU Arnett, MT
Herman, DH
Mcgee, AW
AF Arnett, Megan T.
Herman, David H.
McGee, Aaron W.
TI Deficits in Tactile Learning in a Mouse Model of Fragile X Syndrome
SO PLOS ONE
LA English
DT Article
ID PRIMARY SOMATOSENSORY CORTEX; MENTAL-RETARDATION SYNDROME; FMR1 KNOCKOUT
MICE; INTRINSIC SIGNAL; FUNCTIONAL ARCHITECTURE; SYNAPTIC PLASTICITY; KO
MICE; NETWORK; AUTISM; HYPEREXCITABILITY
AB The fragile X mental retardation 1 mutant mouse (Fmr1 KO) recapitulates several of the neurologic deficits associated with Fragile X syndrome (FXS). As tactile hypersensitivity is a hallmark of FXS, we examined the sensory representation of individual whiskers in somatosensory barrel cortex of Fmr1 KO and wild-type (WT) mice and compared their performance in a whisker-dependent learning paradigm, the gap cross assay. Fmr1 KO mice exhibited elevated responses to stimulation of individual whiskers as measured by optical imaging of intrinsic signals. In the gap cross task, initial performance of Fmr1 KO mice was indistinguishable from WT controls. However, while WT mice improved significantly with experience at all gap distances, Fmr1 KO mice displayed significant and specific deficits in improvement at longer distances which rely solely on tactile information from whiskers. Thus, Fmr1 KO mice possess altered cortical responses to sensory input that correlates with a deficit in tactile learning.
C1 [Arnett, Megan T.; McGee, Aaron W.] Univ So Calif, Keck Sch Med, Childrens Hosp Los Angeles,Saban Res Inst, Dept Pediat,Dev Neurosci Program, Los Angeles, CA 90033 USA.
[Herman, David H.] Univ So Calif, Dept Biol Sci, Neurobiol Sect, Los Angeles, CA 90089 USA.
RP Mcgee, AW (reprint author), Univ So Calif, Keck Sch Med, Childrens Hosp Los Angeles,Saban Res Inst, Dept Pediat,Dev Neurosci Program, Los Angeles, CA 90033 USA.
EM amcgee@usc.edu
FU NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE to AWM; The
Saban Research Institute; Burroughs Wellcome Fund
FX This research was funded in part by grant 1R21N5077288 from the NATIONAL
INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE to AWM. AWM is a
recipient of a Research Development Career Award from The Saban Research
Institute and a Career Award in the Biomedical Sciences from the
Burroughs Wellcome Fund. The funders had no role in the study design,
data collection and analysis, decision to publish, or preparation of the
manuscript.
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NR 47
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 8
PY 2014
VL 9
IS 10
AR e109116
DI 10.1371/journal.pone.0109116
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AT8TE
UT WOS:000345204000039
PM 25296296
ER
PT J
AU Remes, O
Smith, LM
Alvarado-Llano, BE
Colley, L
Levesque, LE
AF Remes, Olivia
Smith, Leah M.
Alvarado-Llano, Beatriz E.
Colley, Lindsey
Levesque, Linda E.
TI Individual- and Regional-level determinants of Human Papillomavirus
(HPV) vaccine refusal: the Ontario Grade 8 HPV vaccine cohort study
SO BMC PUBLIC HEALTH
LA English
DT Article
DE Human papillomavirus; HPV vaccine; Cohort studies; Vaccine coverage;
Vaccine hesitancy; Cohort studies
ID CERVICAL-CANCER; INTELLECTUAL DISABILITY; GENITAL WARTS; UNITED-STATES;
CANADA; PERSPECTIVE; EXPERIENCES; PREVALENCE; ATTITUDES; SEXUALITY
AB Background: Studies on the determinants of human papillomavirus (HPV) vaccine use have generally focused on individual-level characteristics, despite the potentially important influence of regional-level characteristics. Therefore, we undertook a population-based, retrospective cohort study to identify individual-and regional-level determinants of HPV vaccine refusal (non-receipt) in Ontario's (Canada) Grade 8 HPV Immunization Program.
Methods: Ontario's administrative health and immunization databases were used to identify girls eligible for free HPV vaccination in 2007-2011 and to ascertain individual-level characteristics of cohort members (socio-demographics, vaccination history, health care utilization, medical history). The social and material characteristics of the girl's region (health unit) were derived from the 2006 Canadian Census. Generalized estimating equations (binomial distribution, logit link) were used to estimate the population-average effects of individual-and regional-level characteristics on HPV vaccine refusal.
Results: Our cohort consisted of 144,047 girls, 49.3% of whom refused HPV vaccination. Factors associated with refusal included a previous diagnosis of Down's syndrome (OR = 1.37, 95% CI 1.16-1.63) or autism (OR = 1.60, 95% CI 1.34-1.90), few physician visits (OR = 1.45, 95% CI 1.35-1.55), and previous refusal of mandatory (OR = 2.23, 95% CI 2.07-2.40) and optional (OR = 3.96, 95% CI 3.87-4.05) vaccines. Refusal was highest among the lowest and highest income levels. Finally, a previous diagnosis of obesity and living in an area of high deprivation were associated with lower refusal (OR = 0.87, 95% CI 0.83-0.92 and OR = 0.82 95%, CI 0.79-0.86, respectively).
Conclusions: Studies on HPV vaccine determinants should consider regional-level factors. Efforts to increase HPV vaccine acceptance should include vulnerable populations (such as girls of low income) and girls with limited contact with the healthcare system.
C1 [Remes, Olivia; Alvarado-Llano, Beatriz E.; Colley, Lindsey; Levesque, Linda E.] Queens Univ, Dept Publ Hlth Sci, Kingston, ON, Canada.
[Smith, Leah M.] McGill Univ, Dept Epidemiol Biostat & Occupat Hlth, Montreal, PQ, Canada.
RP Levesque, LE (reprint author), Queens Univ, Dept Publ Hlth Sci, 21 Arch St,Room 313, Kingston, ON, Canada.
EM linda.levesque@queensu.ca
FU Ontario Ministry of Health and Long-Term Care Drug Innovation Fund
(MOHLTC-DIF); Institute for Clinical Evaluative Sciences (ICES) -
Ontario Ministry of Health and Long-Term Care (MOHLTC)
FX This study was funded by a grant from the Ontario Ministry of Health and
Long-Term Care Drug Innovation Fund (MOHLTC-DIF). The sponsor had no
role in the design, conduct, analysis, interpretation, preparation,
review or approval of the manuscript, or the decision to submit the
manuscript for publication. This study was also supported by the
Institute for Clinical Evaluative Sciences (ICES), which is funded by an
annual grant from the Ontario Ministry of Health and Long-Term Care
(MOHLTC). The opinions, results and conclusions reported in this paper
are those of the authors and are independent from the funding sources.
No endorsement by ICES or the Ontario MOHLTC is intended or should be
inferred.
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NR 41
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-2458
J9 BMC PUBLIC HEALTH
JI BMC Public Health
PD OCT 8
PY 2014
VL 14
AR 1047
DI 10.1186/1471-2458-14-1047
PG 9
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AT7QZ
UT WOS:000345133800001
PM 25297055
ER
PT J
AU Sowden, S
Shah, P
AF Sowden, Sophie
Shah, Punit
TI Self-other control: a candidate mechanism for social cognitive function
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Editorial Material
DE self-other control; social cognition; autism; schizophrenia; right
temporoparietal junction; neuropsychological markers
ID RIGHT TEMPOROPARIETAL JUNCTION; AUTISM SPECTRUM CONDITIONS; SHARED
REPRESENTATIONS; SCHIZOPHRENIA; IMITATION; BEHAVIOR; BRAIN; MIND;
HALLUCINATIONS; MISATTRIBUTION
C1 [Sowden, Sophie; Shah, Punit] Kings Coll London, MRC Social, Genet & Dev Psychiat Ctr, Inst Psychiat Psychol & Neurosci, London WC2R 2LS, England.
RP Sowden, S (reprint author), Kings Coll London, MRC Social, Genet & Dev Psychiat Ctr, Inst Psychiat Psychol & Neurosci, London WC2R 2LS, England.
EM sophie.sowden@kcl.ac.uk
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NR 55
TC 1
Z9 1
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 OCT 8
PY 2014
VL 8
AR 789
DI 10.3389/fnhum.2014.00789
PG 5
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AQ3AN
UT WOS:000342661200001
PM 25339888
ER
PT J
AU Ruiz, JB
Bell, RA
AF Ruiz, Jeanette B.
Bell, Robert A.
TI Understanding vaccination resistance: Vaccine search term selection bias
and the valence of retrieved information
SO VACCINE
LA English
DT Article
DE Vaccine resistance; Internet search terms; Vaccine websites; Content
analysis
ID WORLD-WIDE-WEB; HEALTH INFORMATION; IMMUNIZATION; INTERNET; REFUSAL;
CHALLENGES; CONSUMERS; REASONS; PARENTS; RISKS
AB Context: Dubious vaccination-related information on the Internet leads some parents to opt out of vaccinating their children.
Objectives: To determine if negative, neutral and positive search terms retrieve vaccination information that differs in valence and confirms searchers' assumptions about vaccination.
Methods: A content analysis of first-page Google search results was conducted using three negative, three neutral, and three positive search terms for the concepts "vaccine," "vaccination," and "MMR"; 84 of the 90 websites retrieved met inclusion requirements. Two coders independently and reliably coded for the presence or absence of each of 15 myths about vaccination (e.g., "vaccines cause autism"), statements that countered these myths, and recommendations for or against vaccination. Data were analyzed using descriptive statistics.
Results: Across all websites, at least one myth was perpetuated on 16.7% of websites and at least one myth was countered on 64.3% of websites. The mean number of myths perpetuated on websites retrieved with negative, neutral, and positive search terms, respectively, was 1.93, 0.53, and 0.40. The mean number of myths countered on websites retrieved with negative, neutral, and positive search terms, respectively, was 3.0, 3.27, and 2.87. Explicit recommendations regarding vaccination were offered on 22.6% of websites. A recommendation against vaccination was more often made on websites retrieved with negative search terms (37.5% of recommendations) than on websites retrieved with neutral (12.5%) or positive (0%) search terms.
Conclusion: The concerned parent who seeks information about the risks of childhood immunizations will find more websites that perpetuate vaccine myths and recommend against vaccination than the parent who seeks information about the benefits of vaccination. This suggests that search term valence can lead to online information that supports concerned parents' misconceptions about vaccines. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Ruiz, Jeanette B.; Bell, Robert A.] Univ Calif Davis, Dept Commun, Davis, CA 95616 USA.
[Bell, Robert A.] Univ Calif Davis, Dept Publ Hlth Sci, Davis, CA 95616 USA.
RP Ruiz, JB (reprint author), Univ Calif Davis, Dept Commun, One Shields Ave, Davis, CA 95616 USA.
EM jbruiz@ucdavis.edu; rabell@ucdavis.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 0264-410X
EI 1873-2518
J9 VACCINE
JI Vaccine
PD OCT 7
PY 2014
VL 32
IS 44
BP 5776
EP 5780
DI 10.1016/j.vaccine.2014.08.042
PG 5
WC Immunology; Medicine, Research & Experimental
SC Immunology; Research & Experimental Medicine
GA AR5QI
UT WOS:000343638300002
PM 25176640
ER
PT J
AU Mazza, M
Pino, MC
Mariano, M
Tempesta, D
Ferrara, M
De Berardis, D
Masedu, F
Valenti, M
AF Mazza, Monica
Pino, Maria C.
Mariano, Melania
Tempesta, Daniela
Ferrara, Michele
De Berardis, Domenico
Masedu, Francesco
Valenti, Marco
TI Affective and cognitive empathy in adolescents with autism spectrum
disorder
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE adolescents; autistic spectrum disorder (ASD); affective empathy;
cognitive empathy; experience sharing; mentalizing
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; MIND; ADULTS; AMYGDALA;
SCHIZOPHRENIA; DISSOCIATION; NEUROSCIENCE; RECOGNITION; VALIDATION
AB The broad construct of empathy incorporates both cognitive and affective dimensions. Recent evidence suggests that the subjects with autistic spectrum disorder (ASD) show a significant impairment in empathic ability. The aim of this study was to evaluate the cognitive and affective components of empathy in adolescents with ASD compared to controls. Fifteen adolescents with ASD and 15 controls underwent paper and pencil measures and a computerized Multifaceted Empathy Test. All measures were divided into mentalizing and experience sharing abilities. Adolescents with ASD compared to controls showed deficits in all mentalizing measures: they were incapable of interpreting and understanding the mental and emotional states of other people. Instead, in the sharing experience measures, the adolescents with ASD were able to empathize with the emotional experience of other people when they express emotions with positive valence, but were not able to do so when the emotional valence is negative. These results were confirmed by the computerized task. In conclusion, our results suggest that adolescents with ASD show a difficulty in cognitive empathy, whereas the deficit in affective empathy is specific for the negative emotional valence.
C1 [Mazza, Monica; Pino, Maria C.; Mariano, Melania; Tempesta, Daniela; Ferrara, Michele] Univ Aquila, Dept Life Hlth & Environm Sci, I-67100 Laquila, AQ, Italy.
[De Berardis, Domenico] G Mazzini Hosp, Dept Mental Hlth, Psychiat Serv Diag & Treatment, Teramo, Italy.
[Masedu, Francesco; Valenti, Marco] Univ Aquila, Dept Appl Clin Sci & Biotechnol, Sect Clin Epidemiol & Environm Med, I-67100 Laquila, AQ, Italy.
[Valenti, Marco] Abruzzo Reg Hlth Syst, Reference Reg Ctr Autism, Laquila, Italy.
RP Mazza, M (reprint author), Univ Aquila, Dept Life Hlth & Environm Sci, Via Vetoio, I-67100 Laquila, AQ, Italy.
EM monica.mazza@cc.univaq.it
RI Valenti, Marco/F-4818-2015
OI Valenti, Marco/0000-0001-9043-3456
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NR 48
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 OCT 7
PY 2014
VL 8
AR 791
DI 10.3389/fnhum.2014.00791
PG 6
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AQ2KJ
UT WOS:000342614200001
PM 25339889
ER
PT J
AU Balan, S
Iwayama, Y
Maekawa, M
Toyota, T
Ohnishi, T
Toyoshima, M
Shimamoto, C
Esaki, K
Yamada, K
Iwata, Y
Suzuki, K
Ide, M
Ota, M
Fukuchi, S
Tsujii, M
Mori, N
Shinkai, Y
Yoshikawa, T
AF Balan, Shabeesh
Iwayama, Yoshimi
Maekawa, Motoko
Toyota, Tomoko
Ohnishi, Tetsuo
Toyoshima, Manabu
Shimamoto, Chie
Esaki, Kayoko
Yamada, Kazuo
Iwata, Yasuhide
Suzuki, Katsuaki
Ide, Masayuki
Ota, Motonori
Fukuchi, Satoshi
Tsujii, Masatsugu
Mori, Norio
Shinkai, Yoichi
Yoshikawa, Takeo
TI Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2
and WIZ, in Japanese autism subjects
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism; Rare variant; GLP; G9a; Wiz; Histone methyltransferase; H3K9
ID SUBTELOMERIC DELETION SYNDROME; HISTONE LYSINE METHYLATION; SPECTRUM
DISORDERS; MUTATIONS; G9A; GLP; SCHIZOPHRENIA; EUCHROMATIN; VARIANTS;
GENETICS
AB Background: Histone H3 methylation at lysine 9 (H3K9) is a conserved epigenetic signal, mediating heterochromatin formation by trimethylation, and transcriptional silencing by dimethylation. Defective GLP (Ehmt1) and G9a (Ehmt2) histone lysine methyltransferases, involved in mono and dimethylation of H3K9, confer autistic phenotypes and behavioral abnormalities in animal models. Moreover, EHMT1 loss of function results in Kleefstra syndrome, characterized by severe intellectual disability, developmental delays and psychiatric disorders. We examined the possible role of histone methyltransferases in the etiology of autism spectrum disorders (ASD) and suggest that rare functional variants in these genes that regulate H3K9 methylation may be associated with ASD.
Methods: Since G9a-GLP-Wiz forms a heteromeric methyltransferase complex, all the protein-coding regions and exon/intron boundaries of EHMT1, EHMT2 and WIZ were sequenced in Japanese ASD subjects. The detected variants were prioritized based on novelty and functionality. The expression levels of these genes were tested in blood cells and postmortem brain samples from ASD and control subjects. Expression of EHMT1 and EHMT2 isoforms were determined by digital PCR.
Results: We identified six nonsynonymous variants: three in EHMT1, two in EHMT2 and one in WIZ. Two variants, the EHMT1 ankyrin repeat domain (Lys968Arg) and EHMT2 SET domain (Thr961Ile) variants were present exclusively in cases, but showed no statistically significant association with ASD. The EHMT2 transcript expression was significantly elevated in the peripheral blood cells of ASD when compared with control samples; but not for EHMT1 and WIZ. Gene expression levels of EHMT1, EHMT2 and WIZ in Brodmann area (BA) 9, BA21, BA40 and the dorsal raphe nucleus (DoRN) regions from postmortem brain samples showed no significant changes between ASD and control subjects. Nor did expression levels of EHMT1 and EHMT2 isoforms in the prefrontal cortex differ significantly between ASD and control groups.
Conclusions: We identified two novel rare missense variants in the EHMT1 and EHMT2 genes of ASD patients. We surmise that these variants alone may not be sufficient to exert a significant effect on ASD pathogenesis. The elevated expression of EHMT2 in the peripheral blood cells may support the notion of a restrictive chromatin state in ASD, similar to schizophrenia.
C1 [Balan, Shabeesh; Iwayama, Yoshimi; Maekawa, Motoko; Toyota, Tomoko; Ohnishi, Tetsuo; Toyoshima, Manabu; Shimamoto, Chie; Esaki, Kayoko; Yamada, Kazuo; Yoshikawa, Takeo] RIKEN, Brain Sci Inst, Lab Mol Psychiat, Wako, Saitama 3510198, Japan.
[Iwata, Yasuhide; Suzuki, Katsuaki; Mori, Norio] Hamamatsu Univ, Sch Med, Dept Psychiat & Neurol, Hamamatsu, Shizuoka, Japan.
[Ide, Masayuki] Univ Tsukuba, Dept Psychiat, Div Clin Med, Tsukuba, Ibaraki, Japan.
[Ota, Motonori] Nagoya Univ, Grad Sch Informat Sci, Nagoya, Aichi 4648601, Japan.
[Fukuchi, Satoshi] Maebashi Inst Technol, Fac Engn, Maebashi, Gumma, Japan.
[Tsujii, Masatsugu] Chukyo Univ, Fac Sociol, Chukyo, Aichi, Japan.
[Tsujii, Masatsugu; Mori, Norio] Hamamatsu Univ, Sch Med, Res Ctr Child Mental Dev, Hamamatsu, Shizuoka, Japan.
[Shinkai, Yoichi] RIKEN, Cellular Memory Lab, Wako, Saitama, Japan.
[Shinkai, Yoichi; Yoshikawa, Takeo] Japan Sci & Technol Agcy, CREST, Kawaguchi, Saitama, Japan.
RP Yoshikawa, T (reprint author), RIKEN, Brain Sci Inst, Lab Mol Psychiat, 2-1 Hirosawa, Wako, Saitama 3510198, Japan.
EM takeo@brain.riken.jp
RI Balan, Shabeesh/K-5753-2014
OI Balan, Shabeesh/0000-0002-1098-1290
FU Japan Society for the Promotion of Science (JSPS), Japan; CREST; Japan
Science and Technology Agency (JST), Japan; RIKEN Brain Science
Institute Funds; Ministry of Education, Culture, Sports, Science and
Technology, Japan.
FX This study was supported in part by Grant-in-Aid for Scientific Research
on Innovative Areas (TY) from the Japan Society for the Promotion of
Science (JSPS), Japan, and by CREST (Core Research for Evolutionary
Science and Technology) (YS and TY) from the Japan Science and
Technology Agency (JST), Japan. In addition, this study was supported by
RIKEN Brain Science Institute Funds (TY). Sections of this study was
conducted as part of the 'Development of biomarker candidates for social
behavior' (TY) and 'Integrated research on neuropsychiatric disorders'
(NM) projects, carried out under the Strategic Research Program for
Brain Sciences by the Ministry of Education, Culture, Sports, Science
and Technology of Japan. A part of this work was also supported by a
grant 'Platform for Drug Discovery, Informatics, and Structural Life
Science' (MO and SF) from the Ministry of Education, Culture, Sports,
Science and Technology, Japan.
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NR 34
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD OCT 6
PY 2014
VL 5
AR 49
DI 10.1186/2040-2392-5-49
PG 9
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AW7LA
UT WOS:000346444400001
PM 25400900
ER
PT J
AU Reissner, C
Stahn, J
Breuer, D
Klose, M
Pohlentz, G
Mormann, M
Missler, M
AF Reissner, Carsten
Stahn, Johanna
Breuer, Dorothee
Klose, Martin
Pohlentz, Gottfried
Mormann, Michael
Missler, Markus
TI Dystroglycan Binding to alpha-Neurexin Competes with Neurexophilin-1 and
Neuroligin in the Brain
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Review
DE Adhesion; Autism; Disulfide; Glycomics; Molecular Modeling;
Site-directed Mutagenesis
ID CONGENITAL MUSCULAR-DYSTROPHY; PROTEIN-STRUCTURE PREDICTION; EXCITATORY
SYNAPSE FORMATION; CELL-SURFACE PROTEINS; CRYSTAL-STRUCTURE;
LAMININ-BINDING; INHIBITORY SYNAPSES; BETA-NEUREXINS;
ENDOPLASMIC-RETICULUM; LATROTOXIN RECEPTOR
AB Background: Extracellular matrix dystroglycan has essential functions at the neuromuscular junction and at inhibitory synapses in the brain. Results: Brain dystroglycan competes with neurexophilin-1 and neuroligins for binding to presynaptic -neurexins. Conclusion: Competition between -neurexin ligands in combination with alternative splicing determines formation of important trans-synaptic complexes. Significance: This is the first analysis of binding interference in -neurexin multiplexes.
-Neurexins (-Nrxn) are mostly presynaptic cell surface molecules essential for neurotransmission that are linked to neuro-developmental disorders as autism or schizophrenia. Several interaction partners of -Nrxn are identified that depend on alternative splicing, including neuroligins (Nlgn) and dystroglycan (DAG). The trans-synaptic complex with Nlgn1 was extensively characterized and shown to partially mediate -Nrxn function. However, the interactions of -Nrxn with DAG, neurexophilins (Nxph1) and Nlgn2, ligands that occur specifically at inhibitory synapses, are incompletely understood. Using site-directed mutagenesis, we demonstrate the exact binding epitopes of DAG and Nxph1 on Nrxn1 and show that their binding is mutually exclusive. Identification of an unusual cysteine bridge pattern and complex type glycans in Nxph1 ensure binding to the second laminin/neurexin/sex hormone binding (LNS2) domain of Nrxn1, but this association does not interfere with Nlgn binding at LNS6. DAG, in contrast, interacts with both LNS2 and LNS6 domains without inserts in splice sites SS#2 or SS#4 mostly via LARGE (like-acetylglucosaminyltransferase)-dependent glycans attached to the mucin region. Unexpectedly, binding of DAG at LNS2 prevents interaction of Nlgn at LNS6 with or without splice insert in SS#4, presumably by sterically hindering each other in the u-form conformation of -Nrxn. Thus, expression of DAG and Nxph1 together with alternative splicing in Nrxn1 may prevent or facilitate formation of distinct trans-synaptic NrxnNlgn complexes, revealing an unanticipated way to contribute to the identity of synaptic subpopulations.
C1 [Reissner, Carsten; Stahn, Johanna; Breuer, Dorothee; Klose, Martin; Missler, Markus] Univ Munster, Inst Anat & Mol Neurobiol, D-48149 Munster, Germany.
[Pohlentz, Gottfried; Mormann, Michael] Univ Munster, Inst Med Phys & Biophys, D-48149 Munster, Germany.
[Missler, Markus] Cells Mot, Cluster Excellence EXC 1003, D-48149 Munster, Germany.
RP Missler, M (reprint author), Univ Munster, Inst Anat & Mol Neurobiol, Vesaliusweg 2-4, D-48149 Munster, Germany.
EM markus.missler@uni-muenster.de
FU Deutsche Forschungsgemeinschaft [SFB492-TPA16, SFB629-TPB11, 492-Z2]
FX This work was supported, in whole or in parts, by Deutsche
Forschungsgemeinschaft Grants SFB492-TPA16 (to M. Missler), SFB629-TPB11
(M. Missler), and 492-Z2 (to M. Mormann).
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NR 119
TC 3
Z9 3
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA
SN 0021-9258
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD OCT 3
PY 2014
VL 289
IS 40
BP 27585
EP 27603
DI 10.1074/jbc.M114.595413
PG 19
WC Biochemistry & Molecular Biology
SC Biochemistry & Molecular Biology
GA AQ5MH
UT WOS:000342852800020
PM 25157101
ER
PT J
AU Whiting, SW
Miller, JM
Hensel, AM
Dixon, MR
Szekely, S
AF Whiting, Seth W.
Miller, Jeffrey M.
Hensel, Allison M.
Dixon, Mark R.
Szekely, Susan
TI Increasing the Accuracy of EpiPen Administration With a Brief Behavioral
Skills Training Package in a School for Autism
SO JOURNAL OF ORGANIZATIONAL BEHAVIOR MANAGEMENT
LA English
DT Article
DE anaphylactic shock; behavioral skills training; feedback; safety; EpiPen
ID SPECTRUM DISORDERS; CHILDREN; STAFF
AB Behavioral staff at a school for children with autism investigated the effects of a brief behavioral skills training procedure to promote the appropriate administration of the EpiPen in an emergency situation by school staff. A 10-item task analysis was created outlining the steps required to use the EpiPen effectively and safely and was validated by the school's registered nurse. Following a pretest in which members of both groups completed a minimal number of steps, the experimental group was trained via instructions, modeling, praise, feedback, and role playing to correctly use the EpiPen whereas the control group received no such training. Posttest scores indicated that the brief intervention was an effective means of teaching appropriate administration of the EpiPen with school staff.
C1 [Whiting, Seth W.; Miller, Jeffrey M.; Hensel, Allison M.; Dixon, Mark R.] So Illinois Univ, Carbondale, IL 62901 USA.
[Szekely, Susan] Illinois Ctr Autism, Fairview Hts, IL USA.
RP Dixon, MR (reprint author), So Illinois Univ, Inst Rehabil, Behav Anal & Therapy Program, 1025 Lincoln Dr, Carbondale, IL 62901 USA.
EM mdixon@siu.edu
CR American Red Cross, 2012, ARC SAC SCI REV EP A
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U.S. National Library of Medicine, 2012, AN
NR 11
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0160-8061
EI 1540-8604
J9 J ORGAN BEHAV MANAGE
JI J. Organ. Behav. Manage.
PD OCT 2
PY 2014
VL 34
IS 4
BP 265
EP 278
DI 10.1080/01608061.2014.973632
PG 14
WC Psychology, Applied; Management
SC Psychology; Business & Economics
GA AW1OY
UT WOS:000346060000004
ER
PT J
AU Lui, CM
Moore, DW
Anderson, A
AF Lui, Chi Man
Moore, Dennis W.
Anderson, Angelika
TI Using a Self-Management Intervention to Increase Compliance in Children
With ASD
SO CHILD & FAMILY BEHAVIOR THERAPY
LA English
DT Article
DE compliance; self-monitoring; effective instructional delivery; autism;
self-management
ID SINGLE-SUBJECT RESEARCH; PROBABILITY REQUEST SEQUENCES;
DEVELOPMENTAL-DISABILITIES; ERRORLESS COMPLIANCE; YOUNG-CHILDREN;
RATING-SCALE; AUTISM; STUDENTS; BEHAVIOR; VALIDATION
AB This two-study series examined the effectiveness of self-management in increase compliance with parental requests. Three boys diagnosed with Autism Spectrum Disorder and their parents participated. The intervention involved self-monitoring combined with parent-delivered reinforcement. A multiple baseline design was used. The intervention was successful in increasing rates of compliance and reducing problem behavior in training and generalization settings with each participant. Social validity was high and treatment integrity data indicated that the intervention could be readily implemented by parents. Study 2 also provided evidence of a strong treatment effect for the self-management beyond a small effect for effective instructional delivery.
C1 [Lui, Chi Man; Moore, Dennis W.; Anderson, Angelika] Monash Univ, Fac Educ, Melbourne, Vic 3800, Australia.
RP Moore, DW (reprint author), Monash Univ, Fac Educ, Melbourne, Vic 3800, Australia.
EM dennis.moore@monash.edu
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NR 40
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0731-7107
EI 1545-228X
J9 CHILD FAM BEHAV THER
JI Child Fam. Behav. Ther.
PD OCT 2
PY 2014
VL 36
IS 4
BP 259
EP 279
DI 10.1080/07317107.2014.967613
PG 21
WC Psychology, Clinical; Family Studies
SC Psychology; Family Studies
GA AT6TC
UT WOS:000345070900001
ER
PT J
AU Paul, HA
AF Paul, Howard A.
TI CBT for Children and Adolescents With High-Functioning Autism Spectrum
Disorders
SO CHILD & FAMILY BEHAVIOR THERAPY
LA English
DT Book Review
CR Scarpa A., 2013, CBT CHILDREN ADOLESC
NR 1
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0731-7107
EI 1545-228X
J9 CHILD FAM BEHAV THER
JI Child Fam. Behav. Ther.
PD OCT 2
PY 2014
VL 36
IS 4
BP 318
EP 325
DI 10.1080/07317107.2014.967638
PG 8
WC Psychology, Clinical; Family Studies
SC Psychology; Family Studies
GA AT6TC
UT WOS:000345070900004
ER
PT J
AU Richa, S
Fahed, M
Khoury, E
Mishara, B
AF Richa, Sami
Fahed, Mario
Khoury, Elias
Mishara, Brian
TI Suicide in Autism Spectrum Disorders
SO ARCHIVES OF SUICIDE RESEARCH
LA English
DT Review
DE autism; Autism Spectrum Disorders; suicide; Pervasive Developmental
Disorder; suicide attempts; Asperger
ID CHILDREN; INDIVIDUALS
AB This review focuses on suicide in patients with Autism Spectrum Disorders (ASD) as well as risk factors and comorbidities of persons with ASD who have attempted suicide. Research was conducted by searching PubMed and Psychinfo for articles. Suicide in ASD is largely understudied. Although suicide is common in clinical samples, we have little knowledge of suicide in persons with ASD in the general population. Comorbidity, particularly with depression and other affective disorders or schizoid disorders and psychotic symptoms, is often reported, so it is difficult to determine if suicidality is associated with ASD or the comorbid disorder. Clinical samples suggest that suicide occurs more frequently in high functioning autism. Physical and sexual abuse, bullying, and changes in routine are precipitating events associated with suicide risk. Persons with ASD present risk factors inherent to their diagnosis (deficit in expression of feelings and thoughts), along with risk factors pertaining to the general population (abuse, depression, anxiety, etc.). The inability of persons with Pervasive Developmental Disorder (PDD) to express emotions and thoughts makes the diagnosis of suicidal ideation difficult and demands important adjustments to traditional psychotherapeutic interventions. More research is needed to determine the incidence of suicidal behaviors in persons with ASD, to identify risk and protective factors, as well as to assess the effectiveness of prevention strategies and interventions.
C1 [Richa, Sami; Fahed, Mario; Khoury, Elias] Hotel Dieu France, Beirut, Lebanon.
[Mishara, Brian] Univ Quebec, CRISE UQAM, Montreal, PQ H3C 3P8, Canada.
RP Richa, S (reprint author), Hotel Dieu France, POB 166830, Beirut, Lebanon.
EM Samiric@idm.net.lb
CR Balfe Myles, 2010, BMC Res Notes, V3, P300, DOI 10.1186/1756-0500-3-300
Beautrais A, 2002, AUSTR NZ J PSYCHIAT, V34, P420
Fernell Elisabeth, 2013, Clin Epidemiol, V5, P33, DOI 10.2147/CLEP.S41714
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Gillberg C, 2002, GUIDE ASPERGER SYNDR
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Hardan A, 1999, RES DEV DISABIL, V20, P287, DOI 10.1016/S0891-4222(99)00010-4
Howlin P, 2005, EUR CHILD ADOLES PSY, V14, P57, DOI 10.1007/s00787-005-0416-4
Isager T., 1999, AUTISM, V3, P7, DOI 10.1177/1362361399003001002
LAINHART JE, 1994, J AUTISM DEV DISORD, V24, P587, DOI 10.1007/BF02172140
Lyketsos C. G., 2011, AM J PSYCHIAT
Mandell DS, 2005, CHILD ABUSE NEGLECT, V29, P1359, DOI 10.1016/j.chiabu.2005.06.006
Maughan B, 2005, CURR OPIN PSYCHIATR, V18, P381, DOI 10.1097/01.yco.0000172055.25284.f2
Mayes SD, 2013, RES AUTISM SPECT DIS, V7, P109, DOI 10.1016/j.rasd.2012.07.009
Mikami K, 2009, GEN HOSP PSYCHIAT, V31, P163, DOI 10.1016/j.genhosppsych.2008.12.003
Mouridsen SE, 2008, AUTISM, V12, P403, DOI 10.1177/1362361308091653
Mukaddes NM, 2010, WORLD J BIOL PSYCHIA, V11, P486, DOI [10.1080/15622970902789130, 10.3109/15622970902789130]
Raja Michele, 2011, Clin Pract Epidemiol Ment Health, V7, P97, DOI 10.2174/1745017901107010097
Shtayermman Oren, 2007, Issues Compr Pediatr Nurs, V30, P87, DOI 10.1080/01460860701525089
Skinner SR, 2005, MED J AUSTRALIA, V183, P422
NR 21
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1381-1118
EI 1543-6136
J9 ARCH SUICIDE RES
JI Arch. Suicide Res.
PD OCT 2
PY 2014
VL 18
IS 4
BP 327
EP 339
DI 10.1080/13811118.2013.824834
PG 13
WC Psychiatry; Psychology; Psychology, Multidisciplinary
SC Psychiatry; Psychology
GA AS7YL
UT WOS:000344467700003
PM 24713024
ER
PT J
AU Benson, RL
Joosten, AV
AF Benson, Rhianna L.
Joosten, Annette V.
TI Does video training increase adult and child joint attention and improve
child outcomes? Two individual case studies in children with autism
spectrum disorder
SO JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY
LA English
DT Article
DE autism; children; video training; joint attention
ID YOUNG-CHILDREN; SOCIAL INITIATIONS; INTERVENTION; LANGUAGE;
COMMUNICATION; IMITATION; PLAY; SKILL; BEHAVIORS; FEEDBACK
AB Background Children with autism spectrum disorder experience difficulty initiating (IJA) and responding to joint attention (RJA), which is critical to engagement in social interactions. The adult role in developing joint attention is widely accepted, but measurement of outcomes from adult training is rarely reported.
Method Using a single case study design, this pilot study examined the joint attention of 1 adult and 2 children before and after the adult was trained using video feedback, to recognise joint attention opportunities and strategies to increase children's joint attention.
Results There was a statistically significant increase in adult IJA and a corresponding increase in the children's RJA. Adult RJA increased minimally in response to minimal increase in the children's IJA. Visible increases in adult-child engagement occurred, but the activity chosen, documentation requirements, and one training session also influenced outcomes.
Conclusions This study provides preliminary evidence that video training does increase adult joint attention attempts and improves social interaction and engagement in activities. Other factors affecting adult and child joint attention frequency are also identified.
C1 [Benson, Rhianna L.] Curtin Univ, Sch Occupat Therapy & Social Work, Perth, WA 6845, Australia.
[Joosten, Annette V.] Curtin Univ, Curtin Hlth Innovat Res Inst, Sch Occupat Therapy & Social Work, Perth, WA 6845, Australia.
RP Joosten, AV (reprint author), Curtin Univ, Curtin Hlth Innovat Res Inst, Sch Occupat Therapy & Social Work, GPO Box U1987, Perth, WA 6845, Australia.
EM a.joosten@curtin.edu.au
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 50
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1366-8250
EI 1469-9532
J9 J INTELLECT DEV DIS
JI J. Intellect. Dev. Dis.
PD OCT 2
PY 2014
VL 39
IS 4
BP 301
EP 314
DI 10.3109/13668250.2014.940861
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AS6NW
UT WOS:000344381000001
ER
PT J
AU Webber, LS
Richardson, B
Lambrick, F
AF Webber, Lynne S.
Richardson, Ben
Lambrick, Frank
TI Individual and organisational factors associated with the use of
seclusion in disability services
SO JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY
LA English
DT Article
DE client risk factors; disability; restrictive interventions; autism;
seclusion; organisational risk factors
ID INTELLECTUAL DISABILITIES; CHALLENGING BEHAVIORS; SPECIAL SCHOOLS;
RESTRAINT USE; PEOPLE; CHILDREN; INTERVENTIONS; ADOLESCENTS; POPULATION;
MANAGEMENT
AB Background Seclusion is a restrictive intervention that results in some form of containment and social isolation of a person from others. Little is known about the relationships between individual and organisation factors and the use of seclusion in disability services.
Method The reported use of seclusion in disability services in Victoria, Australia, was examined over a 3-year period, with a focus on the characteristics of those who were secluded (n = 146) and the characteristics of organisations that reported seclusion compared to others who were reported to be restrained but not secluded (n = 2,482).
Results Results from a logistic regression showed that the individual factors of age, the presence of autism and/or a psychiatric disorder put people at risk of being secluded. In terms of organisational factors, receiving accommodation services in institutions or in the community and the location of the organisation were risk factors.
Conclusions The findings are consistent with previous research but add to this literature by showing that certain organisational characteristics are also risk factors for seclusion. Understanding these factors is important in order to help disability support staff find other more ethical and appropriate alternatives to seclusion.
C1 [Webber, Lynne S.; Lambrick, Frank] Dept Human Serv, Off Profess Practice, Melbourne, Vic 3000, Australia.
[Webber, Lynne S.; Richardson, Ben; Lambrick, Frank] Deakin Univ, Sch Psychol, Melbourne, Vic, Australia.
RP Webber, LS (reprint author), Dept Human Serv, Off Profess Practice, 50 Lonsdale St, Melbourne, Vic 3000, Australia.
EM Lynne.Webber@dhs.vic.gov.au
CR Allen D, 2009, J APPL RES INTELLECT, V22, P159, DOI 10.1111/j.1468-3148.2008.00484.x
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NR 20
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1366-8250
EI 1469-9532
J9 J INTELLECT DEV DIS
JI J. Intellect. Dev. Dis.
PD OCT 2
PY 2014
VL 39
IS 4
BP 315
EP 322
DI 10.3109/13668250.2014.937326
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AS6NW
UT WOS:000344381000002
ER
PT J
AU Pandolfi, V
Magyar, CI
Norris, M
AF Pandolfi, Vincent
Magyar, Caroline I.
Norris, Megan
TI Validity Study of the CBCL 6-18 for the Assessment of Emotional Problems
in Youth With ASD
SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Article
DE autism spectrum disorder; emotional problems; ASD; CBCL; anxiety;
depression
ID AUTISM SPECTRUM DISORDERS; CHILD-BEHAVIOR CHECKLIST;
PSYCHIATRIC-DISORDERS; COMPARISON SAMPLES; K-SADS; DEPRESSION;
IDENTIFICATION; SCHIZOPHRENIA; ADOLESCENTS; SCHEDULE
AB Youth with autism spectrum disorder (ASD) often present with emotional problems such as anxiety and depression (American Psychiatric Association, 2013). A recent study of the Child Behavior Checklist 6-18 (CBCL; Achenbach & Rescorla, 2001) indicated good sensitivity but relatively low specificity for identifying emotional problems in youth with ASD. The current study examined the extent to which variance in the CBCL's Anxious/Depressed, Withdrawn/Depressed, Internalizing Domain, and Total Problems scales was accounted for by symptoms of emotional problems relative to ASD symptoms. Correlation and multiple regression analyses indicated that these scales measured anxiety and depression but a small statistically significant proportion of variance in Total Problems scores was also accounted for by ASD symptoms. Results contribute to the emerging evidence base for the inclusion of the CBCL in assessment protocols for assessing emotional and behavioral problems in youth with ASD.
C1 [Pandolfi, Vincent] Rochester Inst Technol, Dept Psychol, Rochester, NY 14623 USA.
[Magyar, Caroline I.] Univ Rochester, Med Ctr, Rochester, NY 14642 USA.
[Norris, Megan] Nationwide Childrens Hosp, Westerville, OH USA.
RP Pandolfi, V (reprint author), Rochester Inst Technol, Dept Psychol, 18 Lomb Mem Dr,George Eastman Bldg, Rochester, NY 14623 USA.
EM vxpgla@rit.edu
CR Achenbach TM, 2001, MANUAL ASEBA SCH AGE
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American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 47
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1931-5864
EI 1931-5872
J9 J MENT HEALTH RES IN
JI J. Ment. Health Res. Intellect. Disabil.
PD OCT 2
PY 2014
VL 7
IS 4
BP 306
EP 322
DI 10.1080/19315864.2014.930547
PG 17
WC Education, Special; Psychiatry; Rehabilitation
SC Education & Educational Research; Psychiatry; Rehabilitation
GA AS3EB
UT WOS:000344158200002
ER
PT J
AU Hepburn, SL
Stern, JA
Blakeley-Smith, A
Kimel, LK
Reaven, JA
AF Hepburn, Susan L.
Stern, Jessica A.
Blakeley-Smith, Audrey
Kimel, Lila K.
Reaven, Judith A.
TI Complex Psychiatric Comorbidity of Treatment-Seeking Youth With Autism
Spectrum Disorder and Anxiety Symptoms
SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Article
DE anxiety; descriptive; autism; psychiatric comorbidity
ID HIGH-FUNCTIONING AUTISM; COGNITIVE-BEHAVIOR THERAPY; ASPERGER-SYNDROME;
CONTROLLED-TRIAL; CHILDREN; ADOLESCENTS; DEPRESSION; INDIVIDUALS;
RELIABILITY; POPULATION
AB This descriptive study examines the complexity of psychiatric comorbidity in treatment-seeking youth with ASD and anxiety symptoms. Forty-two parents of youth with ASD and anxiety (ages 8-14) completed a structured diagnostic interview (Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version). Youth obtained an average of 4 diagnoses. Complex comorbidity did not differ by age, sex, or autism symptoms. Few had participated in mental health treatment. Data from this study support adopting a trans-diagnostic approach to psychiatric intervention for youth with ASD.
C1 [Hepburn, Susan L.; Stern, Jessica A.; Blakeley-Smith, Audrey; Reaven, Judith A.] Univ Colorado Denver, Sch Med, JFK Partners Dept Psychiat, Denver, CO USA.
[Hepburn, Susan L.] Univ Colorado Denver, Sch Med, Colorado Intellectual & Dev Disabil Res Ctr, Denver, CO USA.
[Kimel, Lila K.] Dev FX, Denver, CO USA.
[Reaven, Judith A.] Univ Colorado Denver, Sch Med, JFK Partners Dept Pediat, Denver, CO USA.
RP Hepburn, SL (reprint author), Univ Colorado, JFK Partners Dept Psychiat, Anschutz Med Campus,13171 E 17th Pl,Box C-234, Aurora, CO 80045 USA.
EM susan.hepburn@ucdenver.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 1987, DIAGN STAT MAN MENT
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Chalfant AM, 2007, J AUTISM DEV DISORD, V37, P1842, DOI 10.1007/s10803-006-0318-4
Cummings CM, 2014, PSYCHOL BULL, V140, P816, DOI 10.1037/a0034733
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NR 45
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1931-5864
EI 1931-5872
J9 J MENT HEALTH RES IN
JI J. Ment. Health Res. Intellect. Disabil.
PD OCT 2
PY 2014
VL 7
IS 4
BP 359
EP 378
DI 10.1080/19315864.2014.932476
PG 20
WC Education, Special; Psychiatry; Rehabilitation
SC Education & Educational Research; Psychiatry; Rehabilitation
GA AS3EB
UT WOS:000344158200005
ER
PT J
AU Johansson, ST
AF Johansson, Shruti Taneja
TI "He Is Intelligent but Different": Stakeholders' Perspectives on
Children on the Autism Spectrum in an Urban Indian School Context
SO INTERNATIONAL JOURNAL OF DISABILITY DEVELOPMENT AND EDUCATION
LA English
DT Article
DE teacher; perspective; India; parent; school; inclusive education;
disability; international; autism
ID INCLUSIVE EDUCATION; DISORDERS; ATTITUDES; TEACHERS; MUMBAI
AB This article explores stakeholders' awareness of autism and their perspectives on children with autism, in an urban Indian school context. Using an interpretive framework, the article draws on interview data from a study conducted in Kolkata. Findings indicated varying but limited awareness of autism among school staff. Teachers instead described the child as "different" from peers. Further, there was variation in stakeholders' view on the challenges faced by the child. In contrast to parents and private specialists, school staff gave no importance to social development and perceived behaviour and personality differences as inherent in the child. Nevertheless, there was a consensus among stakeholders on school responsibility as limited to academic input. Challenging school staff's beliefs about child development and purpose of education, along with re-assessing special educator courses and developing collaboration between parents and school, needs to be addressed to meet the educational needs and ensure successful participation of these children.
C1 Univ Gothenburg, Dept Educ & Special Educ, Gothenburg, Sweden.
RP Johansson, ST (reprint author), Univ Gothenburg, Dept Educ & Special Educ, Gothenburg, Sweden.
EM shruti.johansson@gu.se
CR *CBSE, 2010, CONT COMPR EV MAN TE
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*MHA, 2011, MIN HOM AFF MHA SER, V1
*MHRD, 2011, BRIEF OV QUAL IMPR S
Miles S, 2010, INT J INCLUSIVE EDUC, V14, P1, DOI 10.1080/13603110802265125
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*MSJE, 2011, RIGHTS PERS DIS BILL
NAMBISSAN GB, 2003, EDUCATIONAL DEPRIVAT
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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 1034-912X
EI 1465-346X
J9 INT J DISABIL DEV ED
JI Int. J. Disabil. Dev. Educ.
PD OCT 2
PY 2014
VL 61
IS 4
BP 416
EP 433
DI 10.1080/1034912X.2014.955786
PG 18
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AR5UZ
UT WOS:000343650600008
ER
PT J
AU Flores, MM
Ganz, JB
AF Flores, Margaret M.
Ganz, Jennifer B.
TI Comparison of Direct Instruction and Discrete Trial Teaching on the
Curriculum-based Assessment of Language Performance of Students with
Autism
SO EXCEPTIONALITY
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDER; CHILDREN; TODDLERS; PRESCHOOLERS;
DISABILITIES; PATTERNS
AB There is limited research demonstrating direct instruction (DI) as an effective language intervention for students with autism spectrum disorders (ASD) and developmental disabilities (DD). Existing research has shown that instruction using partial implementation of DI programs resulted in student learning (Ganz, 2007) and instruction using whole lessons resulted in positive instructional effects for students with ASD and DD (Ganz, 2007). However, it is not known whether DI is more effective than other language interventions. The purpose of this study was to compare DI to an established intervention, discrete trial teaching. Thirteen students with ASD or participated in the study and data were collected using curriculum-based assessment. An independent samples t-test indicated that there was a statistically significant difference in student performance for the group who received DI. Results and their implications will be discussed.
C1 [Flores, Margaret M.] Auburn Univ, Auburn, AL 36849 USA.
[Ganz, Jennifer B.] Texas A&M Univ, College Stn, TX 77843 USA.
RP Flores, MM (reprint author), Auburn Univ, Dept Special Educ Rehabil & Counseling, Haley Ctr 2084, Auburn, AL 36849 USA.
EM mmf0010@auburn.edu
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NR 33
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0936-2835
EI 1532-7035
J9 EXCEPTIONALITY
JI Exceptionality
PD OCT 2
PY 2014
VL 22
IS 4
BP 191
EP 204
DI 10.1080/09362835.2013.865533
PG 14
WC Education, Special
SC Education & Educational Research
GA AR0XO
UT WOS:000343298500001
ER
PT J
AU Appenzeller, S
Balling, R
Barisic, N
Baulac, S
Caglayan, H
Craiu, D
De Jonghe, P
Depienne, C
Dimova, P
Djemie, T
Gormley, P
Guerrini, R
Helbig, I
Hjalgrim, H
Hoffman-Zacharska, D
Jahn, J
Klein, KM
Koeleman, B
Komarek, V
Krause, R
Kuhlenbaumer, G
Leguern, E
Lehesjoki, AE
Lemke, JR
Lerche, H
Linnankivi, T
Marini, C
May, P
Moller, RS
Muhle, H
Pal, D
Palotie, A
Pendziwiat, M
Robbiano, A
Roelens, F
Rosenow, F
Selmer, K
Serratosa, JM
Sisodiya, S
Stephani, U
Sterbova, K
Striano, P
Suls, A
Talvik, T
von Spiczak, S
Weber, Y
Weckhuysen, S
Zara, F
Abou-Khalil, B
Alldredge, BK
Andermann, E
Andermann, F
Amron, D
Bautista, JF
Berkovic, SF
Bluvstein, J
Boro, A
Cascino, G
Consalvo, D
Crumrine, P
Devinsky, O
Dlugos, D
Epstein, MP
Fiol, M
Fountain, NB
French, J
Friedman, D
Geller, EB
Glauser, T
Glynn, S
Haas, K
Haut, SR
Hayward, J
Helmers, SL
Joshi, S
Kanner, A
Kirsch, HE
Knowlton, RC
Kossoff, EH
Kuperman, R
Kuzniecky, R
Lowenstein, DH
McGuire, SM
Motika, PV
Novotny, EJ
Ottman, R
Paolicchi, JM
Parent, J
Park, K
Poduri, A
Sadleir, L
Scheffer, IE
Shellhaas, RA
Sherr, E
Shih, JJ
Singh, R
Sirven, J
Smith, MC
Sullivan, J
Thio, LL
Venkat, A
Vining, EPG
Von Allmen, GK
Weisenberg, JL
Widdess-Walsh, P
Winawer, MR
Allen, AS
Berkovic, SF
Cassette, P
Delanty, N
Dlugos, D
Eichler, EE
Epstein, MP
Glauser, T
Goldstein, DB
Han, YJ
Heinzen, EL
Johnson, MR
Kuzniecky, R
Lowenstein, DH
Marson, AG
Mefford, HC
Nieh, SE
O'Brien, TJ
Ottman, R
Petrou, S
Petrovski, S
Poduri, A
Ruzzo, EK
Scheffer, IE
Sherr, E
AF Appenzeller, Silke
Balling, Rudi
Barisic, Nina
Baulac, Stephanie
Caglayan, Hande
Craiu, Dana
De Jonghe, Peter
Depienne, Christel
Dimova, Petia
Djemie, Tania
Gormley, Padhraig
Guerrini, Renzo
Helbig, Ingo
Hjalgrim, Helle
Hoffman-Zacharska, Dorota
Jaehn, Johanna
Klein, Karl Martin
Koeleman, Bobby
Komarek, Vladimir
Krause, Roland
Kuhlenbaeumer, Gregor
Leguern, Eric
Lehesjoki, Anna-Elina
Lemke, Johannes R.
Lerche, Holger
Linnankivi, Tarja
Marini, Carla
May, Patrick
Moller, Rikke S.
Muhle, Hiltrud
Pal, Deb
Palotie, Aarno
Pendziwiat, Manuela
Robbiano, Angela
Roelens, Filip
Rosenow, Felix
Selmer, Kaja
Serratosa, Jose M.
Sisodiya, Sanjay
Stephani, Ulrich
Sterbova, Katalin
Striano, Pasquale
Suls, Arvid
Talvik, Tiina
von Spiczak, Sarah
Weber, Yvonne
Weckhuysen, Sarah
Zara, Federico
Abou-Khalil, Bassel
Alldredge, Brian K.
Andermann, Eva
Andermann, Frederick
Amron, Dina
Bautista, Jocelyn F.
Berkovic, Samuel F.
Bluvstein, Judith
Boro, Alex
Cascino, Gregory
Consalvo, Damian
Crumrine, Patricia
Devinsky, Orrin
Dlugos, Dennis
Epstein, Michael P.
Fiol, Miguel
Fountain, Nathan B.
French, Jacqueline
Friedman, Daniel
Geller, Eric B.
Glauser, Tracy
Glynn, Simon
Haas, Kevin
Haut, Sheryl R.
Hayward, Jean
Helmers, Sandra L.
Joshi, Sucheta
Kanner, Andres
Kirsch, Heidi E.
Knowlton, Robert C.
Kossoff, Eric H.
Kuperman, Rachel
Kuzniecky, Ruben
Lowenstein, Daniel H.
McGuire, Shannon M.
Motika, Paul V.
Novotny, Edward J.
Ottman, Ruth
Paolicchi, Juliann M.
Parent, Jack
Park, Kristen
Poduri, Annapurna
Sadleir, Lynette
Scheffer, Ingrid E.
Shellhaas, Renee A.
Sherr, Elliott
Shih, Jerry J.
Singh, Rani
Sirven, Joseph
Smith, Michael C.
Sullivan, Joe
Thio, Liu Lin
Venkat, Anu
Vining, Eileen P. G.
Von Allmen, Gretchen K.
Weisenberg, Judith L.
Widdess-Walsh, Peter
Winawer, Melodie R.
Allen, Andrew S.
Berkovic, Samuel F.
Cassette, Patrick
Delanty, Norman
Dlugos, Dennis
Eichler, Evan E.
Epstein, Michael P.
Glauser, Tracy
Goldstein, David B.
Han, Yujun
Heinzen, Erin L.
Johnson, Michael R.
Kuzniecky, Ruben
Lowenstein, Daniel H.
Marson, Anthony G.
Mefford, Heather C.
Nieh, Sahar Esmaeeli
O'Brien, Terence J.
Ottman, Ruth
Petrou, Stephen
Petrovski, Slave
Poduri, Annapurna
Ruzzo, Elizabeth K.
Scheffer, Ingrid E.
Sherr, Elliott
CA EuroEPINOMICS-RES Consortium
EuroEPINOMICS-RES Consortium
Epilepsy Phenome Genome Project
Epi4K Consortium
TI De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause
Epileptic Encephalopathies
SO AMERICAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
ID INTELLECTUAL DISABILITY; SPECTRUM DISORDERS; GRIN2A MUTATIONS;
SCHIZOPHRENIA; EPILEPSIES; AUTISM; ENDOCYTOSIS; DYNAMIN-1; PATTERNS;
APHASIA
AB Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further define the genetic landscape. Through a collaboration between two consortia (EuroEPINOMICS and Epi4K/EPGP), we analyzed exome-sequencing data of 356 trios with the "classical" epileptic encephalopathies, infantile spasms and Lennox Gastaut syndrome, including 264 trios previously analyzed by the Epi4K/EPGP consortium. In this expanded cohort, we find 429 de nova mutations, including de novo mutations in DNM1 in five individuals and de nova mutations in GABBR2, FASN, and RYR3 in two individuals each. Unlike previous studies, this cohort is sufficiently large to show a significant excess of de nova mutations in epileptic encephalopathy probands compared to the general population using a likelihood analysis (p = 8.2 x 10(-4)), supporting a prominent role for de novo mutations in epileptic encephalopathies. We bring statistical evidence that mutations in DNM1 cause epileptic encephalopathy, find suggestive evidence for a role of three additional genes, and show that at least 12% of analyzed individuals have an identifiable causal de novo mutation. Strikingly, 75% of mutations in these probands are predicted to disrupt a protein involved in regulating synaptic transmission, and there is a significant enrichment of de nova mutations in genes in this pathway in the entire cohort as well. These findings emphasize an important role for synaptic dysregulation in epileptic encephalopathies, above and beyond that caused by ion channel dysfunction.
RI Scheffer, Ingrid/G-1668-2013; Ottman, Ruth/O-2371-2013; Stephani,
Ulrich/D-1004-2010
OI Scheffer, Ingrid/0000-0002-2311-2174;
FU National Institute of Neurological Disorders and Stroke (The Epilepsy
Phenome/Genome Project) [NS053998, Epi4K NS077364, NS077274, NS077303,
NS077276]; Andrew's Foundation; Finding a Cure for Epilepsy and
Seizures; Richard Thalheimer Philanthropic Fund; Eurocores program
EuroEPINOMICS-RES of the European Science Foundation
FX This work was supported by grants from the National Institute of
Neurological Disorders and Stroke (The Epilepsy Phenome/Genome Project
NS053998; Epi4K NS077364, NS077274, NS077303, and NS077276), The
Andrew's Foundation, Finding a Cure for Epilepsy and Seizures, the
Richard Thalheimer Philanthropic Fund, and the Eurocores program
EuroEPINOMICS-RES of the European Science Foundation. Additional funding
sources are summarized in the Supplemental Acknowledgments. The sponsors
of the study had no role in study design, data collection, data
analysis, data interpretation, or writing of the report.
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Saitsu H, 2008, NAT GENET, V40, P782, DOI 10.1038/ng.150
TORRE E, 1994, J BIOL CHEM, V269, P32411
Xu B, 2012, NAT GENET, V44, P1365, DOI 10.1038/ng.2446
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NR 33
TC 7
Z9 7
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0002-9297
EI 1537-6605
J9 AM J HUM GENET
JI Am. J. Hum. Genet.
PD OCT 2
PY 2014
VL 95
IS 4
BP 360
EP 370
DI 10.1016/j.ajhg.2014.08.013
PG 11
WC Genetics & Heredity
SC Genetics & Heredity
GA AQ2XW
UT WOS:000342654300002
ER
PT J
AU Brand, H
Pillalamarri, V
Collins, RL
Eggert, S
O'Dushlaine, C
Braaten, EB
Stone, MR
Chambert, K
Doty, ND
Hanscom, C
Rosenfeld, JA
Ditmars, H
Blais, J
Mills, R
Lee, C
Gusella, JF
McCarroll, S
Smoller, JW
Talkowski, ME
Doyle, AE
AF Brand, Harrison
Pillalamarri, Vamsee
Collins, Ryan L.
Eggert, Stacey
O'Dushlaine, Colm
Braaten, Ellen B.
Stone, Matthew R.
Chambert, Kimberly
Doty, Nathan D.
Hanscom, Carrie
Rosenfeld, Jill A.
Ditmars, Hillary
Blais, Jessica
Mills, Ryan
Lee, Charles
Gusella, James F.
McCarroll, Steven
Smoller, Jordan W.
Talkowski, Michael E.
Doyle, Alysa E.
TI Cryptic and Complex Chromosomal Aberrations in Early-Onset
Neuropsychiatric Disorders
SO AMERICAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
ID COPY NUMBER VARIATION; AUTISM SPECTRUM DISORDERS; STRUCTURAL VARIATION;
BIPOLAR-DISORDER; HUMAN GENOME; SCHIZOPHRENIA; VARIANTS; DELETION; RISK;
REARRANGEMENTS
AB Structural variation (SV) is a significant component of the genetic etiology of both neurodevelopmental and psychiatric disorders; however, routine guidelines for clinical genetic screening have been established only in the former category. Genome-wide chromosomal microarray (CMA) can detect genomic imbalances such as copy-number variants (CNVs), but balanced chromosomal abnormalities (BCAs) still require karyotyping for clinical detection. Moreover, submicroscopic BCAs and subarray threshold CNVs are intractable, or cryptic, to both CMA and karyotyping. Here, we performed whole-genome sequencing using large-insert jumping libraries to delineate both cytogenetically visible and cryptic SVs in a single test among 30 clinically referred youth representing a range of severe neuropsychiatric conditions. We detected 96 SVs per person on average that passed filtering criteria above our highest-confidence resolution (6,305 bp) and an additional 111 SVs per genome below this resolution. These SVs rearranged 3.8 Mb of genomic sequence and resulted in 42 putative loss-of-function (LoF) or gain-of-function mutations per person. We estimate that 80% of the LoF variants were cryptic to clinical CMA. We found myriad complex and cryptic rearrangements, including a "paired" duplication (360 kb, 169 kb) that flanks a 5.25 Mb inversion that appears in 7 additional cases from clinical CNV data among 47,562 individuals. Following convergent genomic profiling of these independent clinical CNV data, we interpreted three SVs to be of potential clinical significance. These data indicate that sequence-based delineation of the full SV mutational spectrum warrants exploration in youth referred for neuropsychiatric evaluation and clinical diagnostic SV screening more broadly.
C1 [Brand, Harrison; Pillalamarri, Vamsee; Collins, Ryan L.; Eggert, Stacey; Stone, Matthew R.; Hanscom, Carrie; Ditmars, Hillary; Blais, Jessica; Gusella, James F.; Smoller, Jordan W.; Talkowski, Michael E.; Doyle, Alysa E.] Massachusetts Gen Hosp, Ctr Human Genet Res, Mol Neurogenet Unit, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
[Brand, Harrison; Eggert, Stacey; Gusella, James F.; Talkowski, Michael E.] Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA.
[Brand, Harrison; Eggert, Stacey; Braaten, Ellen B.; Doty, Nathan D.; Gusella, James F.; Smoller, Jordan W.; Talkowski, Michael E.; Doyle, Alysa E.] Harvard Univ, Sch Med, Boston, MA 02114 USA.
[Eggert, Stacey; Gusella, James F.; McCarroll, Steven] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA.
[O'Dushlaine, Colm; Chambert, Kimberly; Gusella, James F.; McCarroll, Steven; Smoller, Jordan W.; Talkowski, Michael E.; Doyle, Alysa E.] Broad Inst, Stanley Ctr Psychiat Res, Cambridge, MA 02141 USA.
[O'Dushlaine, Colm; Chambert, Kimberly; Gusella, James F.; McCarroll, Steven; Smoller, Jordan W.; Talkowski, Michael E.; Doyle, Alysa E.] Broad Inst, Program Med & Populat Genet, Cambridge, MA 02141 USA.
[Braaten, Ellen B.; Doty, Nathan D.; Smoller, Jordan W.; Talkowski, Michael E.; Doyle, Alysa E.] Massachusetts Gen Hosp, Dept Psychiat, Boston, MA 02114 USA.
[Rosenfeld, Jill A.] PerkinElmer Inc, Signature Genom Labs, Spokane, WA 99207 USA.
[Mills, Ryan] Univ Michigan, Med Ctr, Dept Computat Med, Ann Arbor, MI 48109 USA.
[Mills, Ryan] Univ Michigan, Med Ctr, Dept Bioinformat & Human Genet, Ann Arbor, MI 48109 USA.
[Lee, Charles] Jackson Lab Genom Med, Farmington, CT 06030 USA.
RP Talkowski, ME (reprint author), Massachusetts Gen Hosp, Ctr Human Genet Res, Mol Neurogenet Unit, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
EM talkowski@chgr.mgh.harvard.edu; doylea@helix.mgh.harvard.edu
FU National Institute of Mental Health [MH095867]; Simons Foundation for
Autism Research; Nancy Lurie Marks Family Foundation; March of Dimes;
Charles Hood Foundation; Brain and Behavioral Research Foundation
(NARSAD); Stanley Center for Psychiatric Research; David Judah
Foundation; NIMH [K24MH094614]
FX The genomic studies were supported by funds from the National Institute
of Mental Health (MH095867), the Simons Foundation for Autism Research,
the Nancy Lurie Marks Family Foundation, the March of Dimes, the Charles
Hood Foundation, and the Brain and Behavioral Research Foundation
(NARSAD) to M.E.T. The LOGIC study and affiliated personnel were
supported by funds from the Stanley Center for Psychiatric Research and
the David Judah Foundation to A.E.D. J.W.M. is supported in part by NIMH
grant K24MH094614.
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NR 49
TC 1
Z9 1
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0002-9297
EI 1537-6605
J9 AM J HUM GENET
JI Am. J. Hum. Genet.
PD OCT 2
PY 2014
VL 95
IS 4
BP 454
EP 461
DI 10.1016/j.ajhg.2014.09.005
PG 8
WC Genetics & Heredity
SC Genetics & Heredity
GA AQ2XW
UT WOS:000342654300010
PM 25279985
ER
PT J
AU Payakachat, N
Tilford, JM
Kovacs, E
Pyne, JM
Kuhlthau, KA
AF Payakachat, Nalin
Tilford, J. Mick
Kovacs, Erica
Pyne, Jeffrey M.
Kuhlthau, Karen A.
TI Impact of Gastrointestinal Problems on Children with Autism Spectrum
Disorders and Their Caregivers
SO QUALITY OF LIFE RESEARCH
LA English
DT Meeting Abstract
C1 [Payakachat, Nalin; Tilford, J. Mick; Pyne, Jeffrey M.] Univ Arkansas Med Sci, Little Rock, AR 72205 USA.
[Kovacs, Erica] Columbia Univ, Med Ctr, Div Child & Adolescent Psychiat, New York, NY 10027 USA.
[Kuhlthau, Karen A.] Ctr Child & Adolescent Hlth Res & Policy, Boston, MA USA.
NR 0
TC 0
Z9 0
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0962-9343
EI 1573-2649
J9 QUAL LIFE RES
JI Qual. Life Res.
PD OCT
PY 2014
VL 23
SU 1
MA 3045
BP 152
EP 152
PG 1
WC Health Care Sciences & Services; Health Policy & Services; Public,
Environmental & Occupational Health
SC Health Care Sciences & Services; Public, Environmental & Occupational
Health
GA CF6XJ
UT WOS:000352699800386
ER
PT J
AU Kuhlthau, KA
McDonnell, E
Coury, D
Macklin, E
AF Kuhlthau, Karen A.
McDonnell, Erin
Coury, Daniel
Macklin, Eric
TI Correlates of cross-sectional and longitudinal health-related quality of
life among children with autism spectrum disorders
SO QUALITY OF LIFE RESEARCH
LA English
DT Meeting Abstract
C1 [Kuhlthau, Karen A.] Ctr Child & Adolescent Hlth Res & Policy, Boston, MA USA.
[McDonnell, Erin; Macklin, Eric] Massachusetts Gen Hosp, Boston, MA 02114 USA.
[Coury, Daniel] Nationwide Childrens Hosp, Columbus, OH USA.
NR 0
TC 0
Z9 0
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0962-9343
EI 1573-2649
J9 QUAL LIFE RES
JI Qual. Life Res.
PD OCT
PY 2014
VL 23
SU 1
MA 3044
BP 170
EP 170
PG 1
WC Health Care Sciences & Services; Health Policy & Services; Public,
Environmental & Occupational Health
SC Health Care Sciences & Services; Public, Environmental & Occupational
Health
GA CF6XJ
UT WOS:000352699800428
ER
PT J
AU Doshi, P
Payakachat, N
Kuo, D
Ounpraseuth, S
Tilford, JM
AF Doshi, Pratik
Payakachat, Nalin
Kuo, Dennis
Ounpraseuth, Songthip
Tilford, J. Mick
TI Effects of private insurance mandates on racial disparities in health
and family outcomes for children with autism
SO QUALITY OF LIFE RESEARCH
LA English
DT Meeting Abstract
C1 [Doshi, Pratik] Arkansas Childrens Hosp, Little Rock, AR 72202 USA.
[Payakachat, Nalin; Kuo, Dennis; Ounpraseuth, Songthip; Tilford, J. Mick] Univ Arkansas Med Sci, Little Rock, AR 72205 USA.
NR 0
TC 0
Z9 0
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0962-9343
EI 1573-2649
J9 QUAL LIFE RES
JI Qual. Life Res.
PD OCT
PY 2014
VL 23
SU 1
MA 3058
BP 172
EP 173
PG 2
WC Health Care Sciences & Services; Health Policy & Services; Public,
Environmental & Occupational Health
SC Health Care Sciences & Services; Public, Environmental & Occupational
Health
GA CF6XJ
UT WOS:000352699800435
ER
PT J
AU Pavone, P
Striano, P
Falsaperla, R
Pavone, L
Ruggieri, M
AF Pavone, Piero
Striano, Pasquale
Falsaperla, Raffaele
Pavone, Lorenzo
Ruggieri, Martino
TI Infantile spasms syndrome, West syndrome and related phenotypes: What we
know in 2013
SO BRAIN & DEVELOPMENT
LA English
DT Review
DE Infantile spasms; West syndrome; Hypsarrhythmia; Genetics; Treatment
ID LENNOX-GASTAUT-SYNDROME; LINKED MENTAL-RETARDATION; SUPPRESSION-BURST
PATTERN; CHILD-NEUROLOGY-SOCIETY; EPILEPTIC ENCEPHALOPATHY; INTELLECTUAL
DISABILITY; MONOZYGOTIC TWINS; FOLLOW-UP; CEREBRAL HYPOMYELINATION;
MEF2C HAPLOINSUFFICIENCY
AB The current spectrum of disorders associated to clinical spasms with onset in infancy is wider than previously thought; accordingly, its terminology has changed. Nowadays, the term Infantile spasms syndrome (ISs) defines an epileptic syndrome occurring in children younger than 1 year (rarely older than 2 years), with clinical (epileptic: i.e., associated to an epileptiform EEG) spasms usually occurring in clusters whose most characteristic EEG finding is hypsarrhythmia [the spasms are often associated with developmental arrest or regression]. The term West syndrome (WS) refers to a form (a subset) of ISs, characterised by the combination of clustered spasms and hypsarrhythmia on an EEG and delayed brain development or regression [currently, it is no longer required that delayed development occur before the onset of spasms]. Less usually, spasms may occur singly rather than in clusters [infantile spasms single-spasm variant (ISSV)], hypsarrhythmia can be (incidentally) recorded without any evidence of clinical spasms [hypsarrhythmia without infantile spasms (HWIS)] or typical clinical spasms may manifest in absence of hypsarrhythmia [infantile spasms without hypsarrhythmia (ISW)]. There is a growing evidence that ISs and related phenotypes may result, besides from acquired events, from disturbances in key genetic pathways of brain development: specifically, in the gene regulatory network of GABAergic forebrain dorsal ventral development, and abnormalities in molecules expressed at the synapse. Children with these genetic associations also have phenotypes beyond epilepsy, including dysmorphic features, autism, movement disorders and systemic malfoinialions. The prognosis depends on: (a) the cause, which gives origin to the attacks (the complex malformation forms being more severe); (b) the EEG pattern(s); (c) the appearance of seizures prior to the spasms; and (d) the rapid response to treatment. Currently, the first-line treatment includes the adrenocorticotropic hormone ACTH and vigabatrin. In the near future the gold standard could be the development of new therapies that target specific pathways of pathogenesis. In this article we review the past and growing number of clinical, genetic, molecular and therapeutic discoveries on this expanding topic. (C) 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
C1 [Pavone, Piero; Falsaperla, Raffaele; Pavone, Lorenzo] Univ Hosp Policlin Vittorio Emanuele, Unit Pediat & Pediat Emergency Costanza Gravina, Catania, Italy.
[Striano, Pasquale] Univ Genoa, Unit Pediat Neurol & Muscular Dis, G Gaslini Res Hosp, I-16126 Genoa, Italy.
[Ruggieri, Martino] Univ Catania, Dept Educ Sci, Chair Pediat, I-95124 Catania, Italy.
RP Ruggieri, M (reprint author), Univ Catania, Dept Educ Sci, Via Casa Nutr 1, I-95124 Catania, Italy.
EM m.ruggieri@unict.it
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NR 109
TC 6
Z9 6
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0387-7604
EI 1872-7131
J9 BRAIN DEV-JPN
JI Brain Dev.
PD OCT
PY 2014
VL 36
IS 9
BP 739
EP 751
DI 10.1016/j.braindev.2013.10.008
PG 13
WC Clinical Neurology
SC Neurosciences & Neurology
GA CB2AQ
UT WOS:000349429500001
PM 24268986
ER
PT J
AU Ishitobi, M
Kawatani, M
Asano, M
Kosaka, H
Goto, T
Hiratani, M
Wada, Y
AF Ishitobi, Makoto
Kawatani, Masao
Asano, Mizuki
Kosaka, Hirotaka
Goto, Takashi
Hiratani, Michio
Wada, Yuji
TI Quetiapine responsive catatonia in an autistic patient with comorbid
bipolar disorder and idiopathic basal ganglia calcification
SO BRAIN & DEVELOPMENT
LA English
DT Article
DE Bipolar disorder; Quetiapine; Autism; Catatonia; Dystonia; Basal ganglia
calcification
AB Background: Bipolar disorder (BD) has been linked with the manifestation of catatonia in subjects with autism spectrum disorders (ASD). Idiopathic basal ganglia calcification (IBGC) is characterized by movement disorders and various neuropsychiatric disturbances including mood disorder. Case: We present a patient with ASD and IBGC who developed catatonia presenting with prominent dystonic feature caused by comorbid BD, which was treated effectively with quetiapine. Conclusion: In addition to considering the possibility of neurodegenerative disease, careful psychiatric interventions are important to avoid overlooking treatable catatonia associated with BD in cases of ASD presenting with both prominent dystonic features and apparent fluctuation of the mood state. (C) 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
C1 [Ishitobi, Makoto] Natl Ctr Neurol & Psychiat, Dept Child & Adolescent Mental Hlth, Natl Inst Mental Hlth, Kodaira, Tokyo 1878553, Japan.
[Ishitobi, Makoto; Asano, Mizuki; Goto, Takashi; Wada, Yuji] Univ Fukui, Dept Neuropsychiat, Fukui, Japan.
[Kosaka, Hirotaka] Univ Fukui, Res Ctr Child Mental Dev, Fukui, Japan.
[Hiratani, Michio] Hiratani Child Dev Clin, Fukui, Japan.
[Kawatani, Masao] Univ Fukui, Dept Pediat, Fukui, Japan.
RP Ishitobi, M (reprint author), Natl Ctr Neurol & Psychiat, Dept Child & Adolescent Mental Hlth, Natl Inst Mental Hlth, 4-1-1 Ogawa Higashi, Kodaira, Tokyo 1878553, Japan.
EM mak1977019@yahoo.co.jp; kawatani@u-fukui.ac.jp; morio@u-fukui.ac.jp;
hirotaka@u-fukui.ac.jp; gotot@u-fukui.ac.jp; m-hiratani@hiratani-c.jp;
waday@u-fukui.ac.jp
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NR 4
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0387-7604
EI 1872-7131
J9 BRAIN DEV-JPN
JI Brain Dev.
PD OCT
PY 2014
VL 36
IS 9
BP 823
EP 825
DI 10.1016/j.braindev.2013.12.005
PG 3
WC Clinical Neurology
SC Neurosciences & Neurology
GA CB2AQ
UT WOS:000349429500012
PM 24434185
ER
PT J
AU Saldarriaga, W
Tassone, F
Gonzalez-Teshima, LY
Forero-Forero, JV
Ayala-Zapata, S
Hagerman, R
AF Saldarriaga, Wilmar
Tassone, Flora
Yuriko Gonzalez-Teshima, Laura
Vicente Forero-Forero, Jose
Ayala-Zapata, Sebastian
Hagerman, Randi
TI Fragile X Syndrome
SO Colombia Medica
LA English
DT Review
DE Fragile X Syndrome; Fragile X Mental Retardation Protein; intellectual
disability; review; therapeutics; genetic counselling
ID FMR1 GENE; TREMOR/ATAXIA SYNDROME; EXPANDED ALLELES; MESSENGER-RNAS; CGG
REPEAT; MENTAL-RETARDATION; DNA DEMETHYLATION; SYNDROME MUTATION;
VALPROIC ACID; CHILDREN
AB Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the FMR1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter therefore silencing it and lowering the expression levels of FMRP, a protein involved in synaptic plasticity and maturation. Individuals with FXS present with intellectual disability, autism, hyperactivity, long face, large or prominent ears and macroorchidism at puberty and thereafter. Most of the young children with FXS will present with language delay, sensory hyper arousal and anxiety. Girls are less affected than boys, only 25% have intellectual disability. Given the genomic features of the syndrome, there are patients with a number of triplet repeats between 55 and 200, known as premutation (PM) carriers. Most carriers have a normal IQ but some have developmental problems. The diagnosis of FXS has evolved from karyotype with special culture medium, to molecular techniques that are more sensitive and specific including PCR and Southern Blot. During the last decade, the advances in the knowledge of FXS, has led to the development of investigations on pharmaceutical management or targeted treatments for FXS. Minocycline and sertraline have shown efficacy in children.
C1 [Saldarriaga, Wilmar] Univ Valle, Hosp Univ Valle, Cali, Colombia.
[Tassone, Flora] Univ Calif, UC Davis MIND Inst, Dept Biochem & Mol Med, Sacramento, CA USA.
[Yuriko Gonzalez-Teshima, Laura; Vicente Forero-Forero, Jose; Ayala-Zapata, Sebastian] Univ Valle, Med & Surg Sch, Cali, Colombia.
[Hagerman, Randi] Univ Calif Davis, UC Davis MIND Inst, Sch Med, Dept Pediat, Davis, CA 95616 USA.
RP Saldarriaga, W (reprint author), Unidad Mirador Avalon, Carrera 37 1Oeste 45,Apto 1203B, Cali, Colombia.
EM wilmar.saldarriaga@correounivalle.edu.co
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NR 61
TC 0
Z9 0
PU CORPORACION EDITORA MEDICA VALLE
PI CALI
PA UNIV VALLE, BLDG 118 FACULTY HEALTH, CALLE 4B 36-00, CALI, 00000,
COLOMBIA
SN 1657-9534
J9 COLOMB MEDICA
JI Colomb. Medica
PD OCT-DEC
PY 2014
VL 45
IS 4
BP 190
EP 198
PG 9
WC Medicine, General & Internal
SC General & Internal Medicine
GA CA0FF
UT WOS:000348591100008
PM 25767309
ER
PT J
AU Furnari, MA
Saw, CLL
Kong, AN
Wagner, GC
AF Furnari, Melody A.
Saw, Constance Lay-Lay
Kong, Ah-Ng
Wagner, George C.
TI Altered behavioral development in Nrf2 knockout mice following early
postnatal exposure to valproic acid
SO BRAIN RESEARCH BULLETIN
LA English
DT Article
DE Nrf2; Knockout mice; Valproic acid; Developmental behavior; Rotorod;
Water maze
ID OXIDATIVE STRESS; GENE-EXPRESSION; TRANSCRIPTION FACTOR;
HIPPOCAMPAL-LESIONS; SODIUM VALPROATE; AUTISM; RATS; MECHANISM;
VIGABATRIN; METABOLISM
AB Early exposure to valproic acid results in autism-like neural and behavioral deficits in humans and other animals through oxidative stress-induced neural damage. In the present study, valproic acid was administered to genetically altered mice lacking the Nrf2 (nuclear factor-erythroid 2 related factor 2) gene on postnatal day 14 (P14). Nrf2 is a transcription factor that induces genes that protect against oxidative stress. It was found that valproic acid-treated Nrf2 knockout mice were less active in open field activity chambers, less successful on the rotorod, and had deficits in learning and memory in the Morris water maze compared to the valproic acid-treated wild type mice. Given these results, it appears that Nrf2 knockout mice were more sensitive to the neural damage caused by valproic acid administered during early development. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Furnari, Melody A.] Rutgers State Univ, Joint Program Toxicol, Piscataway, NJ 08854 USA.
[Saw, Constance Lay-Lay; Kong, Ah-Ng] Rutgers State Univ, Dept Pharmaceut, Piscataway, NJ 08854 USA.
[Wagner, George C.] Rutgers State Univ, Dept Psychol, Piscataway, NJ 08854 USA.
RP Wagner, GC (reprint author), Busch Campus,152 Frelinghuysen Rd, New Brunswick, NJ 08854 USA.
EM gcwagner@rci.rutgers.edu
FU Rutgers University Busch Biomedical Research Grant
FX We would like to thank the undergraduate research assistants, SooYun
Chung, Joseph Dzierzawiec, Baria Hafeez, HyunChung Kim, Shrishti Mamidi,
Rachel Omansky, and Nadia Schuman for assistance in running the
behavioral experiments. This work was supported by a Rutgers University
Busch Biomedical Research Grant (GCW).
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NR 49
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0361-9230
EI 1873-2747
J9 BRAIN RES BULL
JI Brain Res. Bull.
PD OCT
PY 2014
VL 109
BP 132
EP 142
DI 10.1016/j.brainresbull.2014.10.006
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AY5EW
UT WOS:000347596800016
PM 25454122
ER
PT J
AU Xu, DX
Richards, JA
Gilkerson, J
AF Xu, Dongxin
Richards, Jeffrey A.
Gilkerson, Jill
TI Automated Analysis of Child Phonetic Production Using Naturalistic
Recordings
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE vocal development; phonetic development; typical development; language
delay; autism; speech recognition; adult acoustic phonetic model
ID EARLY LANGUAGE-ACQUISITION; PHONOLOGICAL DEVELOPMENT; VOCALIZATIONS;
INVENTORIES; INFANT; AUTISM; COMPLEXITY; 2-YEAR-OLD; DISORDERS; TODDLERS
AB Purpose: Conventional resource-intensive methods for child phonetic development studies are often impractical for sampling and analyzing child vocalizations in sufficient quantity. The purpose of this study was to provide new information on early language development by an automated analysis of child phonetic production using naturalistic recordings. The new approach was evaluated relative to conventional manual transcription methods. Its effectiveness was demonstrated by a case study with 106 children with typical development (TD) ages 8-48 months, 71 children with autism spectrum disorder (ASD) ages 16-48 months, and 49 children with language delay (LD) not related to ASD ages 10-44 months.
Method: A small digital recorder in the chest pocket of clothing captured full-day natural child vocalizations, which were automatically identified into consonant, vowel, nonspeech, and silence, producing the average count per utterance (ACPU) for consonant and vowel.
Results: Clear child utterances were identified with above 72% accuracy. Correlations between machine-estimated and human-transcribed ACPUs were above 0.82. Children with TD produced significantly more consonants and vowels per utterance than did other children. Children with LD produced significantly more consonants but not vowels than did children with ASD.
Conclusion: The authors provide new information on typical and atypical language development in children with TD, ASD, and LD using an automated computational approach.
C1 [Xu, Dongxin; Richards, Jeffrey A.; Gilkerson, Jill] LENA Res Fdn, Boulder, CO 80301 USA.
[Xu, Dongxin; Gilkerson, Jill] Univ Colorado, Boulder, CO 80309 USA.
RP Xu, DX (reprint author), LENA Res Fdn, Boulder, CO 80301 USA.
EM dongxinxu@lenafoundation.org
FU LENA Research Foundation
FX The study and related research and development were funded by the LENA
Research Foundation. All three authors, Dongxin Xu, Jeffrey A. Richards,
and Jill Gilkerson, are employees of the LENA Research Foundation.
CR Chernick M. R., 2011, INTRO BOOTSTRAP METH
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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 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD OCT
PY 2014
VL 57
IS 5
BP 1638
EP 1650
DI 10.1044/2014_JSLHR-S-13-0037
PG 13
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4NZ
UT WOS:000348200500005
PM 24824489
ER
PT J
AU Klusek, J
Martin, GE
Losh, M
AF Klusek, Jessica
Martin, Gary E.
Losh, Molly
TI A Comparison of Pragmatic Language in Boys With Autism and Fragile X
Syndrome
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE pragmatic language; social communication; autism; fragile X syndrome;
discourse; endophenotype
ID PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC-OBSERVATION-SCHEDULE;
HIGH-FUNCTIONING AUTISM; DOWN-SYNDROME; SPECTRUM DISORDERS;
ASPERGER-SYNDROME; CONVERSATIONAL CHARACTERISTICS; BEHAVIORAL-PHENOTYPE;
EXPRESSIVE LANGUAGE; MENTAL-RETARDATION
AB Purpose: Impaired pragmatic language (i.e., language use for social interaction) is a hallmark feature of both autism spectrum disorder (ASD) and fragile X syndrome (FXS), the most common known monogenic disorder associated with ASD. However, few cross-population comparisons of ASD and FXS have been conducted, and it is unclear whether pragmatic language profiles in these conditions overlap.
Method: The authors used seminaturalistic and standardized assessment methods to characterize pragmatic language abilities of 29 school-aged boys with idiopathic ASD, 38 with FXS and comorbid ASD, 16 with FXS without ASD, 20 with Down syndrome, and 20 with typical development.
Results: Similar severity of pragmatic language deficits was observed in both of the groups with ASD (idiopathic and fragile X-associated). ASD comorbidity had a detrimental effect on the pragmatic language skills of the boys with FXS. Some different patterns emerged across the two pragmatic assessment tools, with more robust group differences observed in pragmatics assessed in a seminaturalistic conversational context.
Conclusion: These findings have implications for pragmatic language assessment and intervention, as well as for understanding the potential role of the fragile X gene, Fragile X Mental Retardation-1, in the pragmatic language phenotype of ASD.
C1 [Klusek, Jessica; Martin, Gary E.] Univ N Carolina, Frank Porter Graham Child Dev Inst, Chapel Hill, NC USA.
[Losh, Molly] Northwestern Univ, Evanston, IL 60201 USA.
RP Losh, M (reprint author), Northwestern Univ, Evanston, IL 60201 USA.
EM m-losh@northwestern.edu
FU James J. Gallagher Dissertation Award of Frank Porter Graham Child
Development Institute; National Institute of Child Health and Human
Development [R01HD0388190-62A, R01HD038819-09S1, R01HD044935-06A];
National Institute on Deafness and Other Communication Disorders
[1R01DC010191-01A1, R03DC010880]; National Institute of Mental Health
[R01MH091131-01A1]; National Fragile X Foundation; Ireland Family
Foundation; Research Participant Registry Core of the Carolina Institute
for Developmental Disabilities Grant [P30HD03110]; original National
Institute of Child Health and Human Development
FX This article was completed as part of the first author's doctoral
dissertation, which was supported in part by the James J. Gallagher
Dissertation Award of Frank Porter Graham Child Development Institute.
This work was funded by the National Institute of Child Health and Human
Development Grants R01HD0388190-62A, R01HD038819-09S1, and
R01HD044935-06A; the National Institute on Deafness and Other
Communication Disorders Grants 1R01DC010191-01A1 and R03DC010880; the
National Institute of Mental Health Grant R01MH091131-01A1; the National
Fragile X Foundation; the Ireland Family Foundation; and the Research
Participant Registry Core of the Carolina Institute for Developmental
Disabilities Grant P30HD03110. We would like to thank Linda Watson,
Heather Cody Hazlett, and Jane Roberts for their comments on an earlier
version of this article, Abigail Hogan-Brown for her assistance with the
pragmatic language coding, Christine Rothermel for her help with the
tables, and John Sideris for his guidance on the statistical analyses.
We also thank Rebecca Landa for permitting our use of the Pragmatic
Rating Scale-School Age in this project and for providing training and
guidance on its implementation. We gratefully acknowledge the late
Joanne Roberts, who was awarded the original National Institute of Child
Health and Human Development grants that supported the initial phases of
this research, and the children and families who participated.
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NR 115
TC 2
Z9 2
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD OCT
PY 2014
VL 57
IS 5
BP 1692
EP 1707
DI 10.1044/2014_JSLHR-L-13-0064
PG 16
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4NZ
UT WOS:000348200500009
PM 24686468
ER
PT J
AU Woynaroski, T
Yoder, PJ
Fey, ME
Warren, SF
AF Woynaroski, Tiffany
Yoder, Paul J.
Fey, Marc E.
Warren, Steven F.
TI A Transactional Model of Spoken Vocabulary Variation in Toddlers With
Intellectual Disabilities
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE milieu communication teaching; treatment intensity; intellectual
disabilities; language; vocabulary; intervention
ID AUTISM SPECTRUM DISORDER; INTENTIONAL COMMUNICATION; YOUNG-CHILDREN;
PRELINGUISTIC COMMUNICATION; DEVELOPMENTAL-DISABILITIES; DOWN-SYNDROME;
EXPRESSIVE VOCABULARY; LANGUAGE-DEVELOPMENT; LEXICAL DEVELOPMENT;
INFANTS
AB Purpose: The authors examined (a) whether dose frequency of milieu communication teaching (MCT) affects children's canonical syllabic communication and (b) whether the relation between early canonical syllabic communication and later spoken vocabulary is mediated by parental linguistic mapping in children with intellectual disabilities (ID).
Method: The authors drew on extant data from a recent differential treatment intensity study in which 63 toddlers with ID were randomly assigned to receive either five 1-hr MCT sessions per week (i.e., daily treatment) or one 1-hr MCT session per week (i.e., weekly treatment) for 9 months. Children's early canonical syllabic communication was measured after 3 months of treatment, and later spoken vocabulary was measured at posttreatment. Midpoint parental linguistic mapping was measured after 6 months of treatment.
Results: A moderate-sized effect in favor of daily treatment was observed on canonical syllabic communication. The significant relation between canonical syllabic communication and spoken vocabulary was partially mediated by linguistic mapping.
Conclusions: These results suggest that canonical syllabic communication may elicit parental linguistic mapping, which may in turn support spoken vocabulary development in children with ID. More frequent early intervention boosted canonical syllabic communication, which may jump-start this transactional language-learning mechanism. Implications for theory, research, and practice are discussed.
C1 [Woynaroski, Tiffany; Yoder, Paul J.] Vanderbilt Univ, Nashville, TN 37235 USA.
[Fey, Marc E.] Univ Kansas, Med Ctr, Kansas City, KS USA.
[Warren, Steven F.] Univ Kansas, Lawrence, KS 66045 USA.
RP Woynaroski, T (reprint author), Vanderbilt Univ, 221 Kirkland Hall, Nashville, TN 37235 USA.
EM tiffany.g.woynaroski@vanderbilt.edu
FU National Institute on Deafness and Other Communication Disorders Grant
[R01DC007660]; National Institute on Child Health and Human Development
Grant [P30 NICHD HD 002528]; U.S. Department of Education Grant
[H325D080075]
FX This research was supported in part by National Institute on Deafness
and Other Communication Disorders Grant R01DC007660, National Institute
on Child Health and Human Development Grant P30 NICHD HD 002528, and
U.S. Department of Education Grant H325D080075. We acknowledge the
significant contributions of Jayne Brandel, Catherine Bush, Debby
Daniels, Elizabeth Gardner, Nicole Thompson, and Peggy Waggoner.
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NR 55
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD OCT
PY 2014
VL 57
IS 5
BP 1754
EP 1763
DI 10.1044/2014_JSLHR-L-13-0252
PG 10
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4NZ
UT WOS:000348200500014
PM 24802090
ER
PT J
AU Singh, L
Harrow, MS
AF Singh, Leher
Harrow, MariLouise S.
TI Influences of Semantic and Prosodic Cues on Word Repetition and
Categorization in Autism
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE autism; prosody; development
ID HIGH-FUNCTIONING AUTISM; COMPLEX EMOTION RECOGNITION; SPECTRUM
DISORDERS; ASPERGERS-SYNDROME; SPEECH-PERCEPTION; LEXICAL ACCESS;
VISUAL-SEARCH; SPONTANEOUS ATTENTION; DIAGNOSTIC-CRITERIA; FACIAL
EXPRESSION
AB Purpose: To investigate sensitivity to prosodic and semantic cues to emotion in individuals with high-functioning autism (HFA).
Method: Emotional prosody and semantics were independently manipulated to assess the relative influence of prosody versus semantics on speech processing. A sample of 10-year-old typically developing children (n = 10) and children with HFA (n = 10) were asked to repeat words that were either emotionally congruent or incongruent in form and content (Experiment 1A). In a second task (Experiment 1B), the same participants were asked to classify stimuli on the basis of emotional prosody. A final experiment (Experiment 2) focused on sensitivity to congruence in a non-emotional source of variation: talker gender.
Results: The results revealed a selective impairment in spontaneous integration of prosodic and semantic cues to emotion in HFA; however, the same participants were able to categorize emotions on the basis of prosody under reduced task demands. Individuals with HFA were highly sensitive to another surface characteristic in speech: talker gender.
Conclusions: The study reveals impairment in the spontaneous integration of prosodic and semantic cues to emotion in HFA; however, insensitivity to surface detail, such as prosody, in HFA appears to be highly task dependent and selective to the domain of emotion.
C1 [Singh, Leher] Natl Univ Singapore, Singapore 117548, Singapore.
[Harrow, MariLouise S.] Boston Univ, Boston, MA 02215 USA.
RP Singh, L (reprint author), Natl Univ Singapore, Singapore 117548, Singapore.
EM psyls@nus.edu.sg
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NR 103
TC 1
Z9 1
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD OCT
PY 2014
VL 57
IS 5
BP 1764
EP 1778
DI 10.1044/2014_JSLHR-L-13-0123
PG 15
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4NZ
UT WOS:000348200500015
PM 24801807
ER
PT J
AU Schlosser, RW
Koul, R
Shane, H
Sorce, J
Brock, K
Harmon, A
Moerlein, D
Hearn, E
AF Schlosser, Ralf W.
Koul, Rajinder
Shane, Howard
Sorce, James
Brock, Kristofer
Harmon, Ashley
Moerlein, Dorothy
Hearn, Emilia
TI Effects of Animation on Naming and Identification Across Two Graphic
Symbol Sets Representing Verbs and Prepositions
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE animation; augmentative and alternative; children; communication; forced
choice; graphic symbols; identification; naming
ID INTELLECTUAL DISABILITIES; TRANSPARENCY; INDIVIDUALS; PERFORMANCE;
PICTURES; CHILDREN; SYSTEMS; ADULTS
AB Purpose: The effects of animation on naming and identification of graphic symbols for verbs and prepositions were studied in 2 graphic symbol sets in preschoolers.
Method: Using a 2 x 2 x 2 x 3 completely randomized block design, preschoolers across three age groups were randomly assigned to combinations of symbol set (Autism Language Program [ALP] Animated Graphics or Picture Communication Symbols [PCS]), symbol format (animated or static), and word class (verbs or prepositions). Children were asked to name symbols and to identify a target symbol from an array given the spoken label.
Results: Animated symbols were more readily named than static symbols, although this was more pronounced for verbs than for prepositions. ALP symbols were named more accurately than PCS in particular with prepositions. Animation did not facilitate identification. ALP symbols for prepositions were identified better than PCS, but there was no difference for verbs. Finally, older children guessed and identified symbols more effectively than younger children.
Conclusions: Animation improves the naming of graphic symbols for verbs. For prepositions, ALP symbols are named more accurately and are more readily identifiable than PCS. Naming and identifying symbols are learned skills that develop over time. Limitations and future research directions are discussed.
C1 [Schlosser, Ralf W.; Harmon, Ashley; Moerlein, Dorothy; Hearn, Emilia] Northeastern Univ, Boston, MA 02115 USA.
[Schlosser, Ralf W.; Shane, Howard; Sorce, James] Boston Childrens Hosp, Boston, MA USA.
[Koul, Rajinder; Brock, Kristofer] Texas Tech Univ, Hlth Sci Ctr, Lubbock, TX 79430 USA.
RP Schlosser, RW (reprint author), Northeastern Univ, Boston, MA 02115 USA.
EM R.Schlosser@neu.edu
FU National Institute on Disability and Rehabilitation Research (NIDRR),
U.S. Department of Education [H133G100187]; NIDRR
FX This project was funded by the National Institute on Disability and
Rehabilitation Research (NIDRR), U.S. Department of Education
(H133G100187), to Ralf W. Schlosser with a subcontract to Rajinder Koul.
The authors, however, bear sole responsibility for the content, and
funding by NIDRR does not imply that the opinions expressed in this
report are those of the agency. We wish to thank the following day care
centers for allowing us to collect data at their sites. Greater Boston,
MA: Center for Development of Children of Dover, Children's Corner of
Norwood, Cornerstone Campus Preschool of Quincy, Dover Nursery School of
Dover, Russel J. Call Children's Center (Boston), Wayland Goddard School
of Wayland, Wellesley Community Childen's Center (Wellesley); Lubbock,
TX: Texas Tech University Child Development Research Center, Westminster
Presbyterian Preschool/Daycare, All Saints Episcopal School.
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Schlosser RW, 2011, AUGMENT ALTERN COMM, V27, P205, DOI 10.3109/07434618.2011.592217
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NR 38
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD OCT
PY 2014
VL 57
IS 5
BP 1779
EP 1791
DI 10.1044/2014_JSLHR-L-13-0193
PG 13
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4NZ
UT WOS:000348200500016
PM 24811580
ER
PT J
AU Roberts, MY
Kaiser, AP
Wolfe, CE
Bryant, JD
Spidalieri, AM
AF Roberts, Megan Y.
Kaiser, Ann P.
Wolfe, Cathy E.
Bryant, Julie D.
Spidalieri, Alexandria M.
TI Effects of the Teach-Model-Coach-Review Instructional Approach on
Caregiver Use of Language Support Strategies and Children's Expressive
Language Skills
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE early intervention; language disorders; effectiveness
ID INTERVENTION; AUTISM; PARENTS; STIMULATION; DELAY; RISK
AB Purpose: In this study, the authors examined the effects of the Teach-Model-Coach-Review instructional approach on caregivers' use of four enhanced milieu teaching (EMT) language support strategies and on their children's use of expressive language.
Method: Four caregiver-child dyads participated in a singlesubject, multiple-baseline study. Children were between 24 and 42 months of age and had language impairment. Interventionists used the Teach-Model-Coach-Review instructional approach to teach caregivers to use matched turns, expansions, time delays, and milieu teaching prompts during 24 individualized clinic sessions. Caregiver use of each EMT language support strategy and child use of communication targets were the dependent variables.
Results: The caregivers demonstrated increases in their use of each EMT language support strategy after instruction. Generalization and maintenance of strategy use to the home was limited, indicating that teaching across routines is necessary to achieve maximal outcomes. All children demonstrated gains in their use of communication targets and in their performance on norm-referenced measures of language.
Conclusion: The results indicate that the Teach-Model-Coach-Review instructional approach resulted in increased use of EMT language support strategies by caregivers. Caregiver use of these strategies was associated with positive changes in child language skills.
C1 [Roberts, Megan Y.; Kaiser, Ann P.; Wolfe, Cathy E.; Bryant, Julie D.; Spidalieri, Alexandria M.] Vanderbilt Univ, Nashville, TN 37235 USA.
RP Roberts, MY (reprint author), Vanderbilt Univ, 221 Kirkland Hall, Nashville, TN 37235 USA.
EM megan.y.roberts@northwestern.edu
FU Institute of Education Sciences Training Grant [R305B080025]; Goal 3
Efficacy Grant [R324A090181]
FX This research was supported, in part, by Institute of Education Sciences
Training Grant R305B080025 and Goal 3 Efficacy Grant R324A090181.
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NR 46
TC 1
Z9 1
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD OCT
PY 2014
VL 57
IS 5
BP 1851
EP 1869
DI 10.1044/2014_JSLHR-L-13-0113
PG 19
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4NZ
UT WOS:000348200500022
PM 24950492
ER
PT J
AU Okamoto, Y
Kitada, R
Tanabe, HC
Hayashi, MJ
Kochiyama, T
Munesue, T
Ishitobi, M
Saito, DN
Yanaka, HT
Omori, M
Wada, Y
Okazawa, H
Sasaki, AT
Morita, T
Itakura, S
Kosaka, H
Sadato, N
AF Okamoto, Yuko
Kitada, Ryo
Tanabe, Hiroki C.
Hayashi, Masamichi J.
Kochiyama, Takanori
Munesue, Toshio
Ishitobi, Makoto
Saito, Daisuke N.
Yanaka, Hisakazu T.
Omori, Masao
Wada, Yuji
Okazawa, Hidehiko
Sasaki, Akihiro T.
Morita, Tomoyo
Itakura, Shoji
Kosaka, Hirotaka
Sadato, Norihiro
TI Attenuation of the contingency detection effect in the extrastriate body
area in autism spectrum disorder
SO NEUROSCIENCE RESEARCH
LA English
DT Article
DE Being imitated; Autism spectrum disorders; Extrastriate body area
ID EVENT-RELATED FMRI; OCCIPITOTEMPORAL CORTEX; COMMUNICATION DISORDERS;
ACTION REPRESENTATION; DIAGNOSTIC INTERVIEW; NEURAL MECHANISMS; MOTOR
ACTIONS; IMITATION; CHILDREN; ACTIVATIONS
AB Detection of the contingency between one's own behavior and consequent social events is important for normal social development, and impaired contingency detection may be a cause of autism spectrum disorder (ASD). To depict the neural underpinnings of this contingency effect, 19 adults with ASD and 22 control participants underwent functional MRI while imitating another's actions and their actions being imitated by the other. As the extrastriate body area (EBA) receives efference copies of one's own movements, we predicted that the EBA would show an atypical response during contingency detection in ASD. We manipulated two factors: the congruency of the executed and observed actions, and the order of action execution and observation. Both groups showed the congruency effect in the bilateral EBA during imitation. When action preceded observation, the left EBA of the control group showed the congruency effect, representing the response to being imitated, indicating contingency detection. The ASD group showed a reduced contingency effect in the left EBA. These results indicate that the function of the EBA in the contingency detection is altered in ASD. (C) 2014 Elsevier Ireland Ltd and the Japan Neuroscience Society. All rights reserved.
C1 [Okamoto, Yuko; Kitada, Ryo; Tanabe, Hiroki C.; Hayashi, Masamichi J.; Kochiyama, Takanori; Munesue, Toshio; Saito, Daisuke N.] Natl Inst Physiol Sci, Dept Cerebral Res, Div Cerebral Integrat, Okazaki, Aichi 4448585, Japan.
[Okamoto, Yuko; Kitada, Ryo; Tanabe, Hiroki C.; Kochiyama, Takanori; Yanaka, Hisakazu T.; Omori, Masao; Wada, Yuji; Okazawa, Hidehiko; Sadato, Norihiro] Grad Univ Adv Studies Sokendai, Dept Physiol Sci, Hayama, Japan.
[Okamoto, Yuko; Ishitobi, Makoto; Saito, Daisuke N.; Yanaka, Hisakazu T.] Tottori Univ, Fac Reg Sci, Dept Educ, Tottori, Japan.
[Munesue, Toshio; Okazawa, Hidehiko] Nagoya Univ, Grad Sch Environm Studies, Dept Social & Human Environm, Nagoya, Aichi, Japan.
[Saito, Daisuke N.; Wada, Yuji; Morita, Tomoyo] Univ Helsinki, Inst Biomed Physiol, FIN-00014 Helsinki, Finland.
[Kochiyama, Takanori; Yanaka, Hisakazu T.; Morita, Tomoyo] Aalto Univ, Sch Sci, OV Lounasmaa Lab, Brain Res Unit, Espoo, Finland.
[Kochiyama, Takanori; Okazawa, Hidehiko; Sadato, Norihiro] Kanazawa Univ, Res Ctr Child Mental Dev, Kanazawa, Ishikawa, Japan.
[Okazawa, Hidehiko; Itakura, Shoji] Univ Fukui, Fac Med Sci, Dept Neuropsychiat, Fukui, Japan.
[Munesue, Toshio; Omori, Masao] Natl Inst Mental Hlth, Natl Ctr Neurol & Psychiat, Dept Child & Adolescent Mental Hlth, Tokyo, Japan.
[Kosaka, Hirotaka; Sadato, Norihiro] Univ Fukui, Biomed Imaging Res Ctr, Fukui, Japan.
[Yanaka, Hisakazu T.; Okazawa, Hidehiko; Kosaka, Hirotaka] Univ Fukui, Res & Educ Program Life Sci, Fukui, Japan.
[Saito, Daisuke N.; Sasaki, Akihiro T.; Kosaka, Hirotaka] Univ Fukui, Res Ctr Child Mental Dev, Fukui, Japan.
[Omori, Masao; Itakura, Shoji] Fukui Prefectural Univ, Fac Nursing & Social Welf Sci, Fukui, Japan.
[Sasaki, Akihiro T.] Osaka City Univ Med, Grad Sch Med, Dept Physiol, Osaka, Japan.
[Sasaki, Akihiro T.] RIKEN, Ctr Life Sci Technol, Pathophysiol & Hlth Sci Team, Wako, Saitama, Japan.
[Morita, Tomoyo] Natl Inst Physiol Sci, Dept Integrat Physiol, Div Sensori Motor Integrat, Wako, Saitama, Japan.
[Morita, Tomoyo] Osaka Univ, Grad Sch Engn, Dept Adapt Machine Syst, Osaka, Japan.
[Itakura, Shoji] Kyoto Univ, Grad Sch Letters, Dept Psychol, Kyoto, Japan.
[Itakura, Shoji] Adv Telecommun Res Inst Int, Intelligent Robot & Commun Labs, Kyoto, Japan.
RP Sadato, N (reprint author), Natl Inst Physiol Sci, Div Cerebral Integrat, Okazaki, Aichi 4448585, Japan.
EM sadato@nips.ac.jp
FU Japan Society for the Promotion of Science [21220005, 21591509,
21791120, 25871059]; Takeda Science Foundation; Japan Research
Foundation for Clinical Pharmacology; SENSHIN Medical Research
Foundation; Brain Research at Aalto University; University of Helsinki
consortium postdoctoral program
FX This work was partly supported by Grants-in-Aid for Scientific Research
from the Japan Society for the Promotion of Science to N. Sadato
(21220005), T. Munesue (21591509), H. Kosaka (21791120) and R. Kitada
(25871059). Part of this study was the result of the project
"Development of biomarker candidates for social behavior" and
"Integrated research on neuropsychiatric disorders" carried out under
the Strategic Research Program for Brain Sciences by the Ministry of
Education, Culture, Sports, Science, and Technology of Japan (MEXT). H.
Kosaka was also supported by the Takeda Science Foundation, the Japan
Research Foundation for Clinical Pharmacology, and the SENSHIN Medical
Research Foundation. M.J. Hayashi was supported by Brain Research at
Aalto University and University of Helsinki consortium postdoctoral
program.
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NR 47
TC 1
Z9 1
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0168-0102
EI 1872-8111
J9 NEUROSCI RES
JI Neurosci. Res.
PD OCT
PY 2014
VL 87
BP 66
EP 76
DI 10.1016/j.neures.2014.06.012
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AY7LW
UT WOS:000347742600009
PM 25066523
ER
PT J
AU Geraghty, K
Waxman, SR
Gelman, SA
AF Geraghty, Kathleen
Waxman, Sandra R.
Gelman, Susan A.
TI Learning words from pictures: 15-and 17-month-old infants appreciate the
referential and symbolic links among words, pictures, and objects
SO COGNITIVE DEVELOPMENT
LA English
DT Article
DE Infants; Word learning; Symbolic development; Conceptual development;
Developmental theories; Representation; Learning from pictures
ID CHILDREN; SIMILARITY; LANGUAGE; AUTISM; INFORMATION; ACCOUNT; WAXMAN;
LABELS; BOOTH
AB This experiment was designed to clarify the referential status of infants' newly learned words. We introduced 15- and 17-month-olds to a novel noun, presented in conjunction with pictures of two whisks that differed in color (one purple, one orange). We asked whether infants would extend this newly learned noun to other members of the same kind (other whisks), one differing only in color (a picture of a silver whisk) and another differing in both color and representational medium (a real three-dimensional silver whisk). Fifteen- and 17-month-olds' interpretation of the novel noun was not tethered tightly to the perceptual features with which the word had previously been paired. Instead, their interpretation was sufficiently abstract to include a new member of the same object category, although it differed in color and representational medium (a real silver whisk). Thus, by 15 months, infants appreciate the referential status of words and extend their meaning flexibly from pictures to objects. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Geraghty, Kathleen; Waxman, Sandra R.] Northwestern Univ, Evanston, IL 60208 USA.
[Gelman, Susan A.] Univ Michigan, Ann Arbor, MI 48109 USA.
RP Geraghty, K (reprint author), Northwestern Univ, Dept Psychol, 2029 Sheridan Rd, Evanston, IL 60208 USA.
EM k-geraghty@u.northwestern.edu
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NR 33
TC 1
Z9 1
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0885-2014
EI 1879-226X
J9 COGNITIVE DEV
JI Cogn. Dev.
PD OCT-DEC
PY 2014
VL 32
BP 1
EP 11
DI 10.1016/j.cogdev.2014.04.003
PG 11
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA AY7WN
UT WOS:000347766800001
ER
PT J
AU Srivastava, AK
Schwartz, CE
AF Srivastava, Anand K.
Schwartz, Charles E.
TI Intellectual disability and autism spectrum disorders: Causal genes and
molecular mechanisms
SO NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
LA English
DT Review
DE Intellectual disability; Autism spectrum disorders; Synaptic plasticity;
Neurodevelopmental disorder; Molecular pathways
ID LINKED MENTAL-RETARDATION; ACCESSORY PROTEIN-LIKE; FRAGILE-X-SYNDROME;
CHILDHOOD-ONSET SCHIZOPHRENIA; UBIQUITIN-PROTEASOME SYSTEM; COPY NUMBER
VARIATION; SYNAPTIC PLASTICITY; DENDRITIC SPINES; ANGELMAN-SYNDROME;
MOUSE MODEL
AB Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common developmental disorders present in humans. Combined, they affect between 3 and 5% of the population. Additionally, they can be found together in the same individual thereby complicating treatment.
The causative factors (genes, epigenetic and environmental) are quite varied and likely interact so as to further complicate the assessment of an individual patient. Nonetheless, much valuable information has been gained by identifying candidate genes for ID or ASD. Understanding the etiology of either ID or ASD is of utmost importance for families. It allows a determination of the risk of recurrence, the possibility of other comorbidity medical problems, the molecular and cellular nature of the pathobiology and hopefully potential therapeutic approaches. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Srivastava, Anand K.; Schwartz, Charles E.] Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA.
RP Schwartz, CE (reprint author), Greenwood Genet Ctr, JC Self Res Inst, 113 Gregor Mendel Circle, Greenwood, SC 29646 USA.
EM ceschwartz@ggc.org
FU National Institute of Child Health and Human Development [R01-HD039331];
National Institute of Neurological Disorders and Stroke [R01-NS073854]
FX Debra Marler helped prepare the manuscript. This work was supported by a
grant from the National Institute of Child Health and Human Development
(R01-HD039331 to A.K.S.) and from the National Institute of Neurological
Disorders and Stroke (R01-NS073854 to C.E.S.). Dedicated to the memory
of Ethan Francis Schwartz, 1996-1998.
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NR 201
TC 5
Z9 5
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0149-7634
EI 1873-7528
J9 NEUROSCI BIOBEHAV R
JI Neurosci. Biobehav. Rev.
PD OCT
PY 2014
VL 46
SI SI
BP 161
EP 174
DI 10.1016/j.neubiorev.2014.02.015
PN 2
PG 14
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AZ1QH
UT WOS:000348012600002
PM 24709068
ER
PT J
AU Valenti, D
de Bari, L
de Filippis, B
Henrion-Caude, A
Vacca, RA
AF Valenti, Daniela
de Bari, Lidia
de Filippis, Bianca
Henrion-Caude, Alexandra
Vacca, Rosa Anna
TI Mitochondrial dysfunction as a central actor in intellectual
disability-related diseases: An overview of Down syndrome, autism,
Fragile X and Rett syndrome
SO NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
LA English
DT Review
DE Intellectual disability; Mitochondria; Mitochondrial dysfunction;
Oxidative phosphorylation; Neurogenesis; Neuroplasticity; Down syndrome;
Rett syndrome; Autism; Fragile X; Oxidative stress; Drug development;
Epigallocatechine-3-gallate
ID MENTAL-RETARDATION PROTEIN; DOSAGE EFFECT HYPOTHESIS; ELEMENT-BINDING
PROTEIN; OXIDATIVE STRESS; SYNAPTIC PLASTICITY; MOUSE MODEL; COMPLEX-I;
SPECTRUM DISORDERS; REACTIVE OXYGEN; ALZHEIMERS-DISEASE
AB Clinical manifestations typical of mitochondrial diseases are often present in various genetic syndromes associated with intellectual disability, a condition leading to deficit in cognitive functions and adaptive behaviors. Until now, the causative mechanism leading to intellectual disability is unknown and the progression of the condition is poorly understood.
We first report latest advances on genetic and environmental regulation of mitochondrial function and its role in brain development. Starting from the structure, function and regulation of the oxidative phosphorylation apparatus, we review how mitochondrial biogenesis and dynamics play a central role in neurogenesis and neuroplasticity. We then discuss how dysfunctional mitochondria and alterations in reactive oxygen species homeostasis are potentially involved in the pathogenesis of various neurodevelopmental syndromes with a special focus on Down, Rett, Fragile X syndromes and autism spectrum disorders. Finally, we review and suggest novel therapeutic approaches aimed at improving intellectual disability by activating mitochondrial function and reducing oxidative stress to amiliorate the quality of life in the subjects affected. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Valenti, Daniela; de Bari, Lidia; Vacca, Rosa Anna] CNR, Inst Biomembranes & Bioenerget, I-70126 Bari, Italy.
[de Filippis, Bianca] Ist Super Sanita Roma, Dept Cell Biol & Neurosci, Sect Behav Neurosci, Rome, Italy.
[Henrion-Caude, Alexandra] Hop Necker Enfants Malad, INSERM, U781, Paris, France.
RP Vacca, RA (reprint author), CNR, Inst Biomembranes & Bioenerget, Via Amendola 165-A, I-70126 Bari, Italy.
EM r.vacca@ibbe.cnr.it
FU Italian Ministry of Instruction; University and Research
(MIUR)-Programma FIRB-MERIT [1-RBNE08HWLZ-012]; Fondation Jerome Lejeune
[VACCA/1093-VR2012B]
FX This study was partially supported by grants from the Italian Ministry
of Instruction, University and Research (MIUR)-Programma FIRB-MERIT
(1-RBNE08HWLZ-012) and from Fondation Jerome Lejeune
(VACCA/1093-VR2012B)
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NR 259
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0149-7634
EI 1873-7528
J9 NEUROSCI BIOBEHAV R
JI Neurosci. Biobehav. Rev.
PD OCT
PY 2014
VL 46
SI SI
BP 202
EP 217
DI 10.1016/j.neubiorev.2014.01.012
PN 2
PG 16
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AZ1QH
UT WOS:000348012600005
PM 24548784
ER
PT J
AU D'Antoni, S
Spatuzza, M
Bonaccorso, CM
Musumeci, SA
Ciranna, L
Nicoletti, F
Huber, KM
Catania, MV
AF D'Antoni, Simona
Spatuzza, Michela
Bonaccorso, Carmela M.
Musumeci, Sebastiano A.
Ciranna, Lucia
Nicoletti, Ferdinando
Huber, Kimberly M.
Catania, Maria Vincenza
TI Dysregulation of group-I metabotropic glutamate (mGlu) receptor mediated
signalling in disorders associated with Intellectual Disability and
Autism
SO NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
LA English
DT Review
DE Synaptic plasticity; Developmental disorders; Mental retardation;
Fragile X; Fmrp; TSC; PTEN; Neuroligin; Homer; SHANK; SAPAP3
ID FRAGILE-X-SYNDROME; LONG-TERM DEPRESSION; MENTAL-RETARDATION PROTEIN;
POSTSYNAPTIC DENSITY PROTEINS; DIACYLGLYCEROL-LIPASE-ALPHA; TUBEROUS
SCLEROSIS COMPLEX; HIPPOCAMPAL CA1 NEURONS; 2ND INTRACELLULAR LOOP;
MOUSE MODEL; SYNAPTIC PLASTICITY
AB Activation of group-I metabotropic glutamate receptors, mGlu1 and mGlu5, triggers a variety of signalling pathways in neurons and glial cells, which are differently implicated in synaptic plasticity. The earliest and much of key studies discovered abnormal mGlu5 receptor function in Fragile X syndrome (FXS) mouse models which then motivated more recent work that finds mGlu5 receptor dysfunction in related disorders such as intellectual disability (ID), obsessive-compulsive disorder (OCD) and autism. Therefore, mGlu1/5 receptor dysfunction may represent a common aetiology of these complex diseases. Furthermore, many studies have focused on dysregulation of mGlu5 signalling to synaptic protein synthesis. However, emerging evidence finds abnormal mGlu5 receptor interactions with its scaffolding proteins in FXS which results in mGlu5 receptor dysfunction and phenotypes independent of signalling to protein synthesis. Finally, both an increased and reduced mGlu5 functioning seem to be associated with ID and autism spectrum disorders, with important consequences for potential treatment of these developmental disorders. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [D'Antoni, Simona; Spatuzza, Michela; Catania, Maria Vincenza] CNR, Inst Neurol Sci, I-95126 Catania, Italy.
[Bonaccorso, Carmela M.; Musumeci, Sebastiano A.] IRCCS Oasi Maria SS, Troina, EN, Italy.
[Ciranna, Lucia] Univ Catania, Physiol Sect, Dept Biomed Sci, I-95124 Catania, Italy.
[Nicoletti, Ferdinando] IRCCS Neuromed, Pozzilli, IS, Italy.
[Nicoletti, Ferdinando] Univ Roma La Sapienza, I-00185 Rome, Italy.
[Huber, Kimberly M.] Univ Texas SW Med Ctr Dallas, Dept Neurosci, Dallas, TX 75390 USA.
RP Catania, MV (reprint author), CNR, Inst Neurol Sci, Via Paolo Gaifami 18, I-95126 Catania, Italy.
EM mariavincenza.catania@cnr.it
RI D'Antoni, Simona/C-5768-2015
FU FRAXA Research Foundation, (Troina); Telethon Onlus Foundation, (Troina)
[GGP07264, GGP13145]; IRCCS Oasi Maria SS. (Troina)
FX The authors thank FRAXA Research Foundation, Telethon Onlus Foundation
(projects GGP07264 and GGP13145) and IRCCS Oasi Maria SS. (Troina) for
support.
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NR 187
TC 8
Z9 9
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0149-7634
EI 1873-7528
J9 NEUROSCI BIOBEHAV R
JI Neurosci. Biobehav. Rev.
PD OCT
PY 2014
VL 46
SI SI
BP 228
EP 241
DI 10.1016/j.neubiorev.2014.02.003
PN 2
PG 14
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AZ1QH
UT WOS:000348012600007
PM 24548786
ER
PT J
AU Schaevitz, L
Berger-Sweeney, J
Ricceri, L
AF Schaevitz, Laura
Berger-Sweeney, Joanne
Ricceri, Laura
TI One-carbon metabolism in neurodevelopmental disorders: Using broad-based
nutraceutics to treat cognitive deficits in complex spectrum disorders
SO NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
LA English
DT Review
DE Folate supplementation; Choline supplementation; Neurodevelopment
ID FRAGILE-X-SYNDROME; PRENATAL CHOLINE SUPPLEMENTATION; MAGNETIC-RESONANCE
SPECTROSCOPY; CEREBRAL FOLATE-DEFICIENCY; FOLIC-ACID TREATMENT;
GENE-ENVIRONMENT INTERACTIONS; HUMAN BRAIN-DEVELOPMENT; RETT-SYNDROME
PATIENTS; CPG-BINDING PROTEIN-2; TS65DN MOUSE MODEL
AB Folate and choline, two nutrients involved in the one-carbon metabolic cycle, are intimately involved in regulating DNA integrity, synthesis, biogenic amine synthesis, and methylation. In this review, we discuss evidence that folate and choline play an important role in normal cognitive development, and that altered levels of these nutrients during periods of high neuronal proliferation and synaptogenesis can result in diminished cognitive function. We also discuss the use of these nutrients as therapeutic agents in a spectrum of developmental disorders in which intellectual disability is a prominent feature, such as in Fragile-X, Rett syndrome, Down syndrome, and Autism spectrum disorders. A survey of recent literature suggests that nutritional supplements have mild, but generally consistent, effects on improving cognition. Intervening with supplements earlier rather than later during development is more effective in improving cognitive outcomes. Given the mild improvements seen after treatments using nutrients alone, and the importance of the genetic profile of parents and offspring, we suggest that using nutraceutics early in development and in combination with other therapeutics are likely to have positive impacts on cognitive outcomes in a broad spectrum of complex neurodevelopmental disorders. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Schaevitz, Laura; Berger-Sweeney, Joanne] Tufts Univ, Sch Arts & Sci, Medford, MA USA.
[Ricceri, Laura] Ist Super Sanita, Sect Neurotoxicol & Neuroendocrinol, Dept Cell Biol & Neurosci, I-00161 Rome, Italy.
RP Ricceri, L (reprint author), Ist Super Sanita, Sect Neurotoxicol & Neuroendocrinol, Dept Cell Biol & Neurosci, Viale Regina Elena 299, I-00161 Rome, Italy.
EM laura.ricceri@iss.it
FU IRE-IFO (RF); ISS-Fasc.5%3A; Tufts University Neuroscience Institute
pilot grant
FX Research support was provided by IRE-IFO (RF2008) "MECP2 phosphorylation
and related kinases in Rett syndrome", ISS-Fasc.5%3A (LR) and a Tufts
University Neuroscience Institute pilot grant (LS and JBS).
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NR 181
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0149-7634
EI 1873-7528
J9 NEUROSCI BIOBEHAV R
JI Neurosci. Biobehav. Rev.
PD OCT
PY 2014
VL 46
SI SI
BP 270
EP 284
DI 10.1016/j.neubiorev.2014.04.007
PN 2
PG 15
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AZ1QH
UT WOS:000348012600010
PM 24769289
ER
PT J
AU Molas, S
Dierssen, M
AF Molas, Susanna
Dierssen, Mara
TI The role of nicotinic receptors in shaping and functioning of the
glutamatergic system: A window into cognitive pathology
SO NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
LA English
DT Review
DE Nicotinic receptors; nAChRs; Neuronal plasticity; Intellectual
disability
ID LONG-TERM POTENTIATION; AUTISM SPECTRUM DISORDERS; DENDRITIC SPINE
PLASTICITY; ADENOMATOUS POLYPOSIS-COLI; CENTRAL-NERVOUS-SYSTEM; SUBUNIT
MESSENGER-RNA; LAYER VI NEURONS; PROTEIN-KINASE-C;
ACETYLCHOLINE-RECEPTOR; HIPPOCAMPAL-NEURONS
AB The involvement of the cholinergic system in learning, memory and attention has long been recognized, although its neurobiological mechanisms are not fully understood. Recent evidence identifies the endogenous cholinergic signaling via nicotinic acetylcholine receptors (nAChRs) as key players in determining the morphological and functional maturation of the glutamatergic system. Here, we review the available experimental and clinical evidence of nAChRs contribution to the establishment of the glutamatergic system, and therefore to cognitive function. We provide some clues of the putative underlying molecular mechanisms and discuss recent human studies that associate genetic variability of the genes encoding nAChR subunits with cognitive disorders. Finally, we discuss the new avenues to therapeutically targeting nAChRs in persons with cognitive dysfunction for which the alpha 7-nAChR subunit is an important etiological mechanism. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Molas, Susanna; Dierssen, Mara] Ctr Genom Regulat CRG, Syst Biol Program, E-08003 Barcelona, Catalonia, Spain.
[Molas, Susanna; Dierssen, Mara] Univ Pompeu Fabra, Barcelona, Spain.
[Molas, Susanna; Dierssen, Mara] CIBER Enfermedades Raras, E-08003 Barcelona, Spain.
RP Dierssen, M (reprint author), Ctr Genom Regulat CRG, Syst Biol Program, Barcelona Biomed Res Pk PRBB Bldg,Room 522-04, E-08003 Barcelona, Catalonia, Spain.
EM mara.dierssen@crg.es
FU Spanish Ministry of Science and Innovation Jerome Lejeune Foundation
FX Research in the authors' laboratory was supported by the Spanish
Ministry of Science and Innovation Jerome Lejeune Foundation, FRAXA
Foundation and Generalitat de Catalunya SGR1313 and CIBERER, an
initiative of the Institut de Salud Carlos III (ISCIII).
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NR 178
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0149-7634
EI 1873-7528
J9 NEUROSCI BIOBEHAV R
JI Neurosci. Biobehav. Rev.
PD OCT
PY 2014
VL 46
SI SI
BP 315
EP 325
DI 10.1016/j.neubiorev.2014.05.012
PN 2
PG 11
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AZ1QH
UT WOS:000348012600013
PM 24879992
ER
PT J
AU van der Voet, M
Nijhof, B
Oortveld, MAW
Schenck, A
AF van der Voet, Monique
Nijhof, Bonnie
Oortveld, Mere A. W.
Schenck, Annette
TI Drosophila models of early onset cognitive disorders and their clinical
applications
SO NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
LA English
DT Review
DE Intellectual disability; Mental retardation; Neuropsychiatric disorders;
Cognitive disorders; Drosophila melanogaster; Model organism; Learning
and memory; Synapse; Dendrites Diagnostics; Next-generation sequencing;
Whole-exome sequencing; Reversible cognitive defects; Treatment; Therapy
ID BARDET-BIEDL-SYNDROME; FRAGILE-X-SYNDROME; MENTAL-RETARDATION PROTEIN;
DE-NOVO MUTATIONS; PITT-HOPKINS-SYNDROME;
ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; SUBTELOMERIC DELETION
SYNDROME; CONGENITAL MUSCULAR-DYSTROPHY; CHROMATIN-REMODELING COMPLEX;
AUTISM SPECTRUM DISORDERS
AB The number of genes known to cause human monogenic diseases is increasing rapidly. For the extremely large, genetically and phenotypically heterogeneous group of intellectual disability (ID) disorders, more than 600 causative genes have been identified to date. However, knowledge about the molecular mechanisms and networks disrupted by these genetic aberrations is lagging behind. The fruit fly Drosophila has emerged as a powerful model organism to close this knowledge gap. This review summarizes recent achievements that have been made in this model and envisions its future contribution to our understanding of ID genetics and neuropathology. The available resources and efficiency of Drosophila place it in a position to tackle the main challenges in the field: mapping functional modules of ID genes to provide conceptually novel insights into the genetic control of cognition, tailored functional studies to improve 'next-generation' diagnostics, and identification of reversible ID phenotypes and medication. Drosophila's behavioral repertoire and powerful genetics also open up perspectives for modeling genetically complex forms of ID and neuropsychiatric disorders, which overlap in their genetic etiologies. In conclusion, Drosophila provides many opportunities to advance future medical genomics of early onset cognitive disorders. (C) 2014 The Authors. Published by Elsevier Ltd.
C1 [van der Voet, Monique; Nijhof, Bonnie; Oortveld, Mere A. W.; Schenck, Annette] Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Donders Inst Brain Cognit & Behav, Dept Human Genet,Med Ctr, NL-6525 GA Nijmegen, Netherlands.
RP Schenck, A (reprint author), Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Route 855,Geert Grootepl 10, NL-6525 GA Nijmegen, Netherlands.
EM Annette.Schenck@radboudumc.nl
RI van der Voet, Monique/F-5772-2012
OI van der Voet, Monique/0000-0002-8829-1767
FU Brain and Cognition Excellence Program [43309-229]
FX We thank J.M. Kramer, A.P. de Brouwer, R. Evans and H. van Bokhoven for
critical reading of the manuscript. Our research is supported by a Brain
and Cognition Excellence Program grant (43309-229), VIDI and TOP grants
(917-96-346, 912-12-109) from the Netherlands Organization for
Scientific Research (NWO), by an NCMLS/Radboud university medical center
fellowship, by the German Mental Retardation Network funded by the NGFN+
program of the German Federal Ministry of Education and Research (BMBF)
and by the European Union's FP7 large scale integrated network Gencodys
(HEALTH-241995).
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NR 205
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0149-7634
EI 1873-7528
J9 NEUROSCI BIOBEHAV R
JI Neurosci. Biobehav. Rev.
PD OCT
PY 2014
VL 46
SI SI
BP 326
EP 342
DI 10.1016/j.neubiorev.2014.01.013
PN 2
PG 17
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AZ1QH
UT WOS:000348012600014
PM 24661984
ER
PT J
AU Christov-Moore, L
Simpson, EA
Coude, G
Grigaityte, K
Iacoboni, M
Ferrari, PF
AF Christov-Moore, Leonardo
Simpson, Elizabeth A.
Coude, Gino
Grigaityte, Kristina
Iacoboni, Marco
Ferrari, Pier Francesco
TI Empathy: Gender effects in brain and behavior
SO NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
LA English
DT Article
DE Ontogeny; Gender; Sex; Contagion; Mimicry; Prosocial; Helping; Emotion;
Mirror neuron system; Development; Evolution
ID MIRROR-NEURON SYSTEM; DELIBERATE VICARIOUS REPRESENTATIONS; EMOTIONAL
FACIAL EXPRESSIONS; AUTISM SPECTRUM DISORDERS; TOY PREFERENCES PARALLEL;
2ND-TO-4TH DIGIT RATIO; EARLY SEX-DIFFERENCES; INDIVIDUAL-DIFFERENCES;
PERSPECTIVE-TAKING; MOTOR FACILITATION
AB Evidence suggests that there are differences in the capacity for empathy between males and females. However, how deep do these differences go? Stereotypically, females are portrayed as more nurturing and empathetic, while males are portrayed as less emotional and more cognitive. Some authors suggest that observed gender differences might be largely due to cultural expectations about gender roles. However, empathy has both evolutionary and developmental precursors, and can be studied using implicit measures, aspects that can help elucidate the respective roles of culture and biology. This article reviews evidence from ethology, social psychology, economics, and neuroscience to show that there are fundamental differences in implicit measures of empathy, with parallels in development and evolution. Studies in nonhuman animals and younger human populations (infants/children) offer converging evidence that sex differences in empathy have phylogenetic and ontogenetic roots in biology and are not merely cultural byproducts driven by socialization. We review how these differences may have arisen in response to males' and females' different roles throughout evolution. Examinations of the neurobiological underpinnings of empathy reveal important quantitative gender differences in the basic networks involved in affective and cognitive forms of empathy, as well as a qualitative divergence between the sexes in how emotional information is integrated to support decision making processes. Finally, the study of gender differences in empathy can be improved by designing studies with greater statistical power and considering variables implicit in gender (e.g., sexual preference, prenatal hormone exposure). These improvements may also help uncover the nature of neurodevelopmental and psychiatric disorders in which one sex is more vulnerable to compromised social competence associated with impaired empathy. (C) 2014 Published by Elsevier Ltd.
C1 [Christov-Moore, Leonardo; Grigaityte, Kristina; Iacoboni, Marco] Univ Calif Los Angeles, Brain Res Inst, Ahmanson Lovelace Brain Mapping Ctr, Los Angeles, CA 90095 USA.
[Iacoboni, Marco] Univ Calif Los Angeles, David Geffen Sch Med, Semel Inst Neurosci & Human Behav, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90095 USA.
[Simpson, Elizabeth A.; Coude, Gino; Ferrari, Pier Francesco] Univ Parma, Dipartimento Neurosci, I-43125 Parma, Italy.
[Simpson, Elizabeth A.] NICHHD, NIH, Dickerson, MD 20842 USA.
[Grigaityte, Kristina] Univ Edinburgh, Edinburgh, Midlothian, Scotland.
RP Ferrari, PF (reprint author), Univ Parma, Dipartimento Neurosci, Via Volturno 39, I-43125 Parma, Italy.
EM pierfrancesco.ferrari@unipr.it
FU NICHD [P01HD064653]; NIH [1R21MH097178]; NSF Graduate Fellowship
[DGE-1144087]
FX This work was supported by NICHD P01HD064653 to P. F.F., by NIH grant
1R21MH097178 to M.I., and by NSF Graduate Fellowship DGE-1144087 to
L.C.-M.
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NR 348
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0149-7634
EI 1873-7528
J9 NEUROSCI BIOBEHAV R
JI Neurosci. Biobehav. Rev.
PD OCT
PY 2014
VL 46
SI SI
BP 604
EP 627
DI 10.1016/j.neubiorev.2014.09.001
PN 4
PG 24
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AZ1QJ
UT WOS:000348012800012
PM 25236781
ER
PT J
AU Yau, VM
Green, PG
Alaimo, CP
Yoshida, CK
Lutsky, M
Windham, GC
Delorenze, G
Kharrazi, M
Grether, JK
Croen, LA
AF Yau, Vincent M.
Green, Peter G.
Alaimo, Christopher P.
Yoshida, Cathleen K.
Lutsky, Marta
Windham, Gayle C.
Delorenze, Gerald
Kharrazi, Martin
Grether, Judith K.
Croen, Lisa A.
TI Prenatal and neonatal peripheral blood mercury levels and autism
spectrum disorders (vol 133, pg 294, 2014)
SO ENVIRONMENTAL RESEARCH
LA English
DT Correction
C1 [Yau, Vincent M.; Yoshida, Cathleen K.; Lutsky, Marta; Delorenze, Gerald; Croen, Lisa A.] Kaiser Permanente, Div Res, Oakland, CA 94611 USA.
[Green, Peter G.; Alaimo, Christopher P.; Grether, Judith K.] Univ Calif Davis, Dept Civil & Environm Engn, Davis, CA 95616 USA.
[Windham, Gayle C.] Calif Dept Publ Hlth, Div Environm & Occupat Dis Control, Richmond, CA USA.
[Kharrazi, Martin] Calif Dept Publ Hlth, Genet Dis Screening Program, Richmond, CA USA.
RP Croen, LA (reprint author), Kaiser Permanente, Div Res, Oakland, CA 94611 USA.
EM Lisa.A.Croen@kp.org
CR Yau VM, 2014, ENVIRON RES, V133, P294, DOI 10.1016/j.envres.2014.04.034
NR 1
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 0013-9351
EI 1096-0953
J9 ENVIRON RES
JI Environ. Res.
PD OCT
PY 2014
VL 134
SI SI
BP 454
EP 454
DI 10.1015/j.envres.2014.09.001
PG 1
WC Environmental Sciences; Public, Environmental & Occupational Health
SC Environmental Sciences & Ecology; Public, Environmental & Occupational
Health
GA AX3CB
UT WOS:000346817100061
ER
PT J
AU Bogels, SM
Hellemans, J
van Deursen, S
Romer, M
van der Meulen, R
AF Bogels, Susan M.
Hellemans, Joke
van Deursen, Saskia
Romer, Marieke
van der Meulen, Rachel
TI Mindful Parenting in Mental Health Care: Effects on Parental and Child
Psychopathology, Parental Stress, Parenting, Coparenting, and Marital
Functioning
SO MINDFULNESS
LA English
DT Article
DE Mindful Parenting; Child psychopathology; Parental psychopathology;
Parenting; Coparenting; Parental stress
ID DECREASES AGGRESSION; TREATMENT RESPONSE; SELF-REPORT; FOLLOW-UP; ADHD;
BEHAVIOR; MODERATORS; PRESCHOOL; FAMILIES; AUTISM
AB This study evaluated the acceptability and effects of a Mindful Parenting course in mental health care. Parents (n = 86) referred to secondary mental health care because of their children's and/or their own psychopathology, or parent-child relationship problems, followed a Mindful Parenting course in a group format (10 groups). Assessments took place just before the course (pre-test), immediately after the nine-week course (post-test), and at 8-week follow-up. A waitlist assessment took place only for those parents who had to wait for a course (n = 23). Measures concerned parent report of psychopathology symptoms of their target child, as well as their own psychopathology symptoms, parental stress, parenting behaviors, coparenting, and marital functioning. Only one parent dropped out and parents evaluated the program as valuable and effective in many areas of family functioning. No improvement was reported during waitlist, except for an improvement in parental externalizing symptoms. Improvements after the course occurred in the target child's internalizing and externalizing psychopathology symptoms, parents' own internalizing symptoms and further improvement on their externalizing symptoms. Also, improvements occurred on parental stress, parenting, and coparenting, but not on marital functioning. Improvements were generally maintained at follow-up. In conclusion, the very low dropout rate as well as the positive evaluations, suggest that Mindful Parenting is an acceptable and feasible intervention in mental health care. Mindful Parenting appears a promising new intervention for parents in mental health care, as it seems effective on a broad range of child, parent, and family variables. Studies comparing Mindful Parenting to other effective interventions, such as Parent Management training, are needed to gain more knowledge about its relative and differential effectiveness.
C1 [Bogels, Susan M.; Hellemans, Joke; van der Meulen, Rachel] UvA Minds Acad Treatment Ctr Parent & Child, NL-1018 TV Amsterdam, Netherlands.
[van Deursen, Saskia; Romer, Marieke] Lorentzhuis, Ctr Family Therapy Training & Consultat, NL-2012 EM Haarlem, Netherlands.
RP Bogels, SM (reprint author), UvA Minds Acad Treatment Ctr Parent & Child, Plantage Muidergracht 14, NL-1018 TV Amsterdam, Netherlands.
EM s.m.bogels@uva.nl
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NR 73
TC 1
Z9 1
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 1868-8527
EI 1868-8535
J9 MINDFULNESS
JI Mindfulness
PD OCT
PY 2014
VL 5
IS 5
BP 536
EP 551
DI 10.1007/s12671-013-0209-7
PG 16
WC Psychology, Clinical; Psychiatry
SC Psychology; Psychiatry
GA AX0IB
UT WOS:000346635000008
ER
PT J
AU Bakken, TL
Hoidal, SH
AF Bakken, Trine L.
Hoidal, Siv H.
TI Asperger syndrome or schizophrenia, or both? Case identification of 12
adults in a specialized psychiatric inpatient unit
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Asperger syndrome; schizophrenia; adults; misdiagnosis
ID AUTISM SPECTRUM DISORDERS; THOUGHT-DISORDER; CHILDHOOD; PSYCHOPATHOLOGY;
COMMUNICATION; PREVALENCE; LANGUAGE; PEOPLE
AB Background: Asperger syndrome (AS) may be difficult to distinguish from psychosis in the schizophrenia spectrum (PSS), as the two conditions share core features. Aim: The aim of this paper is to identify symptoms which are useful in the differential diagnostic process, and which symptoms cause confusion in the assessment.
Methods: Twelve patients, consecutively referred to a specialized psychiatric inpatient unit for re-diagnostic assessment, were recruited in a 3-year period. The patients were systematically assessed for both AS and for psychotic disorder in the schizophrenia spectrum.
Results: Symptoms that caused misdiagnosis in the present sample were especially idiosyncratic speech taken for delusions (or the reverse), dysfunction related to self-care, task solving, and relationships, and social impairment taken for negative symptoms (or the reverse). Useful areas were symptom onset, symptoms of disorganized speech, occurrence of hallucinations, and occurrence of relapses. The latter contributed to diagnostic clarity related to PSS only.
Conclusion: Patients with both AS and PSS may show severe symptoms which usually are difficult to distinguish. When both AS and PSS are suspected in severely impaired adult patients, comprehensive assessment including both AS and PSS is required. Symptoms that may differentiate PSS from AS are age of onset, presence of hallucinations, presence of disorganized speech and behaviour, and occurrence of relapses. Confusing symptoms include social impairments, and idiosyncratic opinions in persons with AS, which may be mistaken for delusions (or the reverse). Also bizarre behaviour and general dysfunction may be wrongly attributed to AS or PSS.
C1 [Bakken, Trine L.; Hoidal, Siv H.] Oslo Univ Hosp, Oslo, Norway.
RP Bakken, TL (reprint author), Oslo Univ Hosp, Oslo, Norway.
EM Trine.Lise.Bakken@ous-hf.no
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World Health Organisation, 1992, ICD 10 CLASS MENT BE
NR 46
TC 0
Z9 0
PU MANEY PUBLISHING
PI LEEDS
PA STE 1C, JOSEPHS WELL, HANOVER WALK, LEEDS LS3 1AB, W YORKS, ENGLAND
SN 2047-3869
EI 2047-3877
J9 INT J DEV DISABIL
JI Int. J. Dev. Disabil.
PD OCT
PY 2014
VL 60
IS 4
BP 215
EP 225
DI 10.1179/2047387713Y.0000000022
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AW9TC
UT WOS:000346599100002
ER
PT J
AU Hirata, S
Okuzumi, H
Kitajima, Y
Hosobuchi, T
Nakai, A
Kokubun, M
AF Hirata, Shogo
Okuzumi, Hideyuki
Kitajima, Yoshio
Hosobuchi, Tomio
Nakai, Akio
Kokubun, Mitsuru
TI Relationship between motor skill and social impairment in children with
autism spectrum disorders
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE autism spectrum disorders; motor skill impairment; manual dexterity;
social impairment
AB Aim: The purpose of this study was to investigate the relationship between motor skill and social impairment in children with autism spectrum disorders (ASD).
Methods: The subjects were 26 children with ASD aged 7-16 years. Their intelligence quotients (IQ) ranged from 73 to 124. We conducted two tasks: movement assessment battery for children-2 (MABC-2) and social responsiveness scale (SRS). The MABC-2 is a motor test that can assess total motor ability, and three sub-domain abilities. SRS is a parent questionnaire that can assess individual differences in social impairment.
Results: In the children with ASD in this study, difficulty with manual dexterity was the most frequently occurring problem. Also, their individual differences in social impairment were strongly interrelated with problems with manual dexterity.
Interpretation: These results suggest that when MABC-2 is administered to children with ASD but without severe cognitive impairment, due attention should be paid to their manual dexterity (MD) score.
C1 [Hirata, Shogo; Kitajima, Yoshio] Chiba Univ, Chiba 2638522, Japan.
[Okuzumi, Hideyuki; Kokubun, Mitsuru] Tokyo Gakugei Univ, Tokyo, Japan.
[Hosobuchi, Tomio] Saitama Univ, Saitama, Japan.
[Nakai, Akio] Univ Fukui, Fukui, Japan.
RP Hirata, S (reprint author), Chiba Univ, Inage Ku, 1-33 Yayoi, Chiba 2638522, Japan.
EM r093002g@st.u-gakugei.ac.jp
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Bhat A. N., 2011, PHYS THER, V91, P1176
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Ito M, 2008, NAT REV NEUROSCI, V9, P304, DOI 10.1038/nrn2332
Japanese WISC-4 Publication Committee, 2010, WECHSL INT SCAL CHIL
Papadopoulos N, 2012, RES AUTISM SPECT DIS, V6, P286, DOI 10.1016/j.rasd.2011.05.010
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SPSS, 2004, SPSS 12 0 WIND
von Hofsten C., 2012, FRONT INT NEUROSCI, V6, P1
Whyatt CP, 2012, J AUTISM DEV DISORD, V42, P1799, DOI 10.1007/s10803-011-1421-8
NR 15
TC 0
Z9 0
PU MANEY PUBLISHING
PI LEEDS
PA STE 1C, JOSEPHS WELL, HANOVER WALK, LEEDS LS3 1AB, W YORKS, ENGLAND
SN 2047-3869
EI 2047-3877
J9 INT J DEV DISABIL
JI Int. J. Dev. Disabil.
PD OCT
PY 2014
VL 60
IS 4
BP 251
EP 256
DI 10.1179/2047387713Y.0000000033
PG 6
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AW9TC
UT WOS:000346599100006
ER
PT J
AU Prandini, P
Zusi, C
Malerba, G
Pignatti, PF
Trabetti, E
AF Prandini, Paola
Zusi, Chiara
Malerba, Giovanni
Pignatti, Pier Franco
Trabetti, Elisabetta
CA ITAN
TI Analysis of RBFOX1 gene expression in lymphoblastoid cell lines of
Italian discordant autism spectrum disorders sib-pairs
SO MOLECULAR AND CELLULAR PROBES
LA English
DT Article
DE Autism; RBFOX1 gene; Gene expression; Lymphocytes; Lymphoblastoid cell
lines
ID NEURONAL DEVELOPMENT; PATHWAYS; DELETION
AB Several lines of evidence suggest that RBFOX1 is a key regulator of transcriptional and splicing programs in neural cells during development, and that it is expressed in a neuronal module enriched for known autism susceptibility genes. We have investigated its expression by semiquantitative RT-PCR in accessible nonbrain resources in eighteen autism spectrum disorder sib-pairs belonging to the Italian Autism Network cohort. RBFOX1 gene expression was detected in lymphoblastoid cell lines but not in lymphocytes. No significant differences between autism spectrum disorders and non-affected brothers were found. We were not able to replicate in lymphoblastoid cell lines the previously reported RBFOXI gene downregulation in autism, even if a trend was observed. This might be due to less pronounced transcription level differences in RBFOX1 gene expression in lymphoblastoid cell lines than in brain samples. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Prandini, Paola; Zusi, Chiara; Malerba, Giovanni; Pignatti, Pier Franco; Trabetti, Elisabetta] Univ Verona, Dept Life & Reprod Sci, I-37134 Verona, Italy.
[ITAN] ITAN Italian Autism Network, Verona, Italy.
RP Trabetti, E (reprint author), Univ Verona, Dept Life & Reprod Sci, Str Le Grazie 8, I-37134 Verona, Italy.
EM elisabetta.trabetti@univr.it
FU SmithKline Foundation; University of Verona; Italian Ministry of
Education; University and Research
FX This work was supported by the SmithKline Foundation, the University of
Verona, and the Italian Ministry of Education, University and Research.
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 19
TC 0
Z9 0
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 0890-8508
J9 MOL CELL PROBE
JI Mol. Cell. Probes
PD OCT-DEC
PY 2014
VL 28
IS 5-6
BP 242
EP 245
DI 10.1016/j.mcp.2014.05.001
PG 4
WC Biochemical Research Methods; Biochemistry & Molecular Biology;
Biotechnology & Applied Microbiology; Cell Biology
SC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology;
Cell Biology
GA AW7QW
UT WOS:000346460600006
PM 24938762
ER
PT J
AU Handt, M
Epplen, A
Hoffjan, S
Mese, K
Epplen, JT
Dekomien, G
AF Handt, Maximilian
Epplen, Andrea
Hoffjan, Sabine
Mese, Kemal
Epplen, Joerg T.
Dekomien, Gabriele
TI Point mutation frequency in the FMR1 gene as revealed by fragile X
syndrome screening
SO MOLECULAR AND CELLULAR PROBES
LA English
DT Article
DE Fragile X syndrome; FMR1; Missense mutation; Mental retardation; High
resolution melting (HRM) analysis
ID RESOLUTION MELTING ANALYSIS; MENTAL-RETARDATION PROTEIN;
OF-THE-LITERATURE; MESSENGER-RNA; RETARDED MALES; CGG REPEAT; INTRON 10;
IDENTIFICATION; METHYLATION; DNA
AB Fragile X syndrome (FXS) is a common cause of intellectual disability, developmental delay and autism spectrum disorders. This syndrome is due to a functional loss of the FMR1 gene product FMRP, and, in most cases, it is caused by CGG repeat expansion in the FMR1 promoter. Yet, also other FMR1 mutations may cause a FXS-like phenotype. Since standard molecular testing does not include the analysis of the FMR1 coding region, the prevalence of point mutations causing FXS is not well known. Here, high resolution melting (HRM) was used to screen for FMR1 gene mutations in 508 males with clinical signs of mental retardation and developmental delay, but without CGG and GCC repeat expansions in the FMR1 gene and AFF2 genes, respectively. Sequence variations were identified by HRM analysis and verified by direct DNA sequencing. Two novel missense mutations (p.Gly482Ser in one patient and p.Arg534His in two unrelated patients), one intronic and two 3'-untranslated region (UTR) variations were identified in the FMR1 gene. Missense mutations in the FMR1 gene might account for a considerable proportion of cases in male patients with FXS-related symptoms, such as those linked to mental retardation and developmental delay. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Handt, Maximilian; Mese, Kemal; Epplen, Joerg T.] Univ Witten Herdecke, Fac Hlth, D-58448 Witten, Germany.
[Epplen, Andrea; Hoffjan, Sabine; Epplen, Joerg T.; Dekomien, Gabriele] Ruhr Univ Bochum, D-44801 Bochum, Germany.
RP Dekomien, G (reprint author), Ruhr Univ Bochum, Univ Str 150, D-44801 Bochum, Germany.
EM gabriele.dekomien@rub.de
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NR 57
TC 1
Z9 1
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 0890-8508
J9 MOL CELL PROBE
JI Mol. Cell. Probes
PD OCT-DEC
PY 2014
VL 28
IS 5-6
BP 279
EP 283
DI 10.1016/j.mcp.2014.08.003
PG 5
WC Biochemical Research Methods; Biochemistry & Molecular Biology;
Biotechnology & Applied Microbiology; Cell Biology
SC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology;
Cell Biology
GA AW7QW
UT WOS:000346460600013
PM 25171808
ER
PT J
AU VanDam, M
AF VanDam, Mark
TI Acoustic characteristics of the clothes used for a wearable recording
device
SO JOURNAL OF THE ACOUSTICAL SOCIETY OF AMERICA
LA English
DT Article
ID AUTOMATED VOCAL ANALYSIS; INFANT VOCALIZATIONS; LANGUAGE; CHILDREN;
AUTISM
AB There has been increasing attention in the literature to wearable acoustic recording devices, particularly to examine naturalistic speech in disordered and child populations. Recordings are typically analyzed using automatic procedures that critically depend on the reliability of the collected signal. This work describes the acoustic amplitude response characteristics and the possibility of acoustic transmission loss using several shirts designed for wearable recorders. No difference was observed between the response characteristics of different shirt types or between shirts and the bare-microphone condition. Results are relevant for research, clinical, educational, and home applications in both practical and theoretical terms. (C) 2014 Acoustical Society of America
C1 Washington State Univ, Dept Speech & Hearing Sci, Coll Med Sci, Spokane, WA 99202 USA.
RP VanDam, M (reprint author), Washington State Univ, Dept Speech & Hearing Sci, Coll Med Sci, 412 East Spokane Falls Blvd, Spokane, WA 99202 USA.
EM mark.vanDam@wsu.edu
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NR 16
TC 0
Z9 0
PU ACOUSTICAL SOC AMER AMER INST PHYSICS
PI MELVILLE
PA STE 1 NO 1, 2 HUNTINGTON QUADRANGLE, MELVILLE, NY 11747-4502 USA
SN 0001-4966
EI 1520-8524
J9 J ACOUST SOC AM
JI J. Acoust. Soc. Am.
PD OCT
PY 2014
VL 136
IS 4
BP EL263
EP EL267
DI 10.1121/1.4895015
PG 5
WC Acoustics; Audiology & Speech-Language Pathology
SC Acoustics; Audiology & Speech-Language Pathology
GA AW0JF
UT WOS:000345977400003
PM 25324108
ER
PT J
AU Johnson, B
Ulberg, S
Shivale, S
Donaldson, J
Milczarski, B
Faraone, SV
AF Johnson, Brian
Ulberg, Scott
Shivale, Swati
Donaldson, Jeffrey
Milczarski, Ben
Faraone, Stephen V.
TI Fibromyalgia, Autism, and Opioid Addiction as Natural and Induced
Disorders of the Endogenous Opioid Hormonal System
SO DISCOVERY MEDICINE
LA English
DT Article
ID LOW-DOSE NALTREXONE; RECEPTOR GENE OPRM1; BETA-ENDORPHIN;
INFANTILE-AUTISM; DOUBLE-BLIND; PAIN; CHILDREN; REWARD; SENSITIVITY;
DEPENDENCE
AB Introduction: Because of their circulation through the blood, the multiplicity of receptor sites, and the diversity of functions, opioids may most accurately be designated as a hormone. Opioids modulate the intensity of pain. In mammals, the opioid system has been modified to modulate social interactions as well (Panksepp and Watt, 2011). Methods: Over 10,000 patient encounters were observed on a neuropsychoanalytic addiction medicine service. Cold pressor times (CPT) were recorded before and after stimulation of the opioid system with low-dose naltrexone (LDN) for patients after opioid detoxification and for fibromyalgia patients. Results: Patients maintained on opioids relate autistically. The cold, unrelated nature of their human interactions was reversed by detoxification from opioids. Fibromyalgia patients have difficulty participating in human relationships, as if they lack an ability to respond interpersonally, as do post-detoxification patients. LDN improved pain tolerance as shown by a significant increase on CPT for post detoxification patients from 16 seconds to 55 seconds and in fibromyalgia patients from 21 seconds to 42 seconds, and improved relatedness. The correlation of opioid prescribing increasing over time and autism prevalence increasing over time is highly significant. Conclusions: 1. Opioid-maintained patients relate autistically. 2. Autism is a hyperopioidergic disorder. 3. Fibromylagia is a hypoopioidergic disorder. 4. Low opioid tone caused by opioid maintenance or fibromyalgia can usually be reversed with low-dose naltrexone. 5. The increase in the incidence of autism may have been caused by the increase in use of opioids for analgesia during childbirth.
C1 [Johnson, Brian; Ulberg, Scott; Shivale, Swati; Donaldson, Jeffrey; Milczarski, Ben; Faraone, Stephen V.] SUNY Upstate Med Univ, Dept Psychiat & Behav Sci, Syracuse, NY 13210 USA.
RP Johnson, B (reprint author), SUNY Upstate Med Univ, Dept Psychiat & Behav Sci, Syracuse, NY 13210 USA.
EM johnsonb@upstate.edu
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NR 59
TC 0
Z9 0
PU DISCOVERY MEDICINE
PI TIMONIUM
PA 10 GERARD AVE, STE 201, TIMONIUM, MD 21093 USA
SN 1539-6509
EI 1944-7930
J9 DISCOV MED
JI Discov. Med.
PD OCT
PY 2014
VL 99
BP 209
EP 220
PG 12
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AU1RY
UT WOS:000345399100006
ER
PT J
AU Lawson, G
Fletcher, R
AF Lawson, Gerald
Fletcher, Richard
TI Delayed fatherhood
SO JOURNAL OF FAMILY PLANNING AND REPRODUCTIVE HEALTH CARE
LA English
DT Review
ID ADVANCING PATERNAL AGE; POPULATION-BASED COHORT; PARENTAL AGE;
RISK-FACTORS; MULTIPLE-SCLEROSIS; CESAREAN DELIVERY; PERINATAL FACTORS;
BIPOLAR DISORDER; BIRTH-DEFECTS; MATERNAL AGE
AB Birth data from developed countries indicates that the average paternal age is increasing. As the trend to older fatherhood has become established, concerns have been raised that this may be linked to adverse outcomes, such as pregnancy complications, congenital anomalies, and long-term health implications for the child. Since the sperm of older fathers may be impaired due to the general effects of ageing, their offspring may be at risk due to defects in sperm quality at conception. A literature search was performed to identify pregnancy complications, fetal anomalies and health issues for the child when the father is in an older age bracket. Evidence for impairment in the sperm and genetic material of older fathers was reviewed. With an older father, there is evidence of an increase in stillbirths and a slightly increased risk of autism, bipolar disorder and schizophrenia in the offspring later in life. The increased risk of achondroplasia has long been recognised. For the mother, there is an increased rate of Caesarean section. Investigations of other possible adverse outcomes have produced mixed findings. Further robust and longitudinal studies are needed to clarify these issues.
C1 [Lawson, Gerald] John Hunter Hosp, Newcastle, NSW, Australia.
[Fletcher, Richard] Univ Newcastle, Fac Hlth & Med, Family Act Ctr, Newcastle, NSW 2300, Australia.
RP Lawson, G (reprint author), 35 Hebburn St, Hamilton, NSW 2303, Australia.
EM gwl8491@hotmail.com
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NR 50
TC 0
Z9 0
PU BMJ PUBLISHING GROUP
PI LONDON
PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
SN 1471-1893
EI 2045-2098
J9 J FAM PLAN REPROD H
JI J. Fam. Plan. Reprod. Health Care
PD OCT
PY 2014
VL 40
IS 4
BP 283
EP 288
DI 10.1136/jfprhc-2013-100866
PG 6
WC Family Studies; Obstetrics & Gynecology; Social Sciences, Biomedical
SC Family Studies; Obstetrics & Gynecology; Biomedical Social Sciences
GA AU6WE
UT WOS:000345741300013
PM 24958072
ER
PT J
AU Lee, AR
Hong, SW
Ju, SJ
AF Lee, Ae Ran
Hong, Sun Woo
Ju, Se Jin
TI Construct Validity of the Life Transition Scale for Parents of Children
with Autism
SO JOURNAL OF KOREAN ACADEMY OF NURSING
LA Korean
DT Article
DE Autistic disorder; Parents; Transition; Validity
ID MOTHERS; STRESS; FATHERS; DISABILITY; INVENTORY; PRESCHOOL
AB Purpose: The study was done to identify the construct validity and reliability of the life transition scale (LTS) for parents who have children with autism. Methods: Exploratory factor analysis (EFA) and confirmative factor analysis (CFA) were conducted to identify the most adequate measurement model for structural validity. Convergent validity and discriminant validity were also conducted for structural validity. Data were collected from 208 parents through self-reported questionnaires and analyzed with SPSS/WIN 15.0 and AMOS 20.0 version. Results: A four factor-structure was validated (chi(2)=541.23, p<.001, GFI =.82, RMSEA=.07, IFI =.89, CFI =.89, PNFI =.73, Q (chi(2)/dt)= 2.20) at the 3rd order of EFA and CFA, and factors were named as denying, wandering, despairing, and accepting. Both convergent and determinant validity for LTS were 100%. Cronbach's alphas for the reliability of each structure were.77-.90 and.83 for total structure. Conclusion: The four structures, 24-item instrument showed satisfactory reliability and validity. LTS has the potential to be appropriate for assessing the transition process of life for parents who have children with autism and provides basic directions for differentiated support and care at each stage.
C1 [Lee, Ae Ran] Wonkwang Hlth Sci Univ, Dept Nursing, Iksan, South Korea.
[Hong, Sun Woo] Daejeon Univ, Dept Emergency Med Technol, Taejon 300716, South Korea.
[Ju, Se Jin] Namseoul Univ, Dept Nursing, Cheonan, South Korea.
RP Hong, SW (reprint author), Daejeon Univ, Dept Emergency Med Technol, 62 Daehak Ro, Taejon 300716, South Korea.
EM swhong@dju.kr
FU Wonkwang Health Science University
FX This study was supported financially by the research fund of Wonkwang
Health Science University in 2013.
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Ministry of Health & Welfare, 2013, STAT DIS
Neely-Barnes S. L., 2011, J FAMILY SOCIAL WORK, V14, P208, DOI [10.1080/10522158.2011.571539, DOI 10.1080/10522158.2011.571539]
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NR 26
TC 0
Z9 0
PU KOREAN SOC NURSING SCIENCE
PI SEOUL
PA KOREA SCIENCE & TECHNOL CTR, 635-4 YEOKSAM-DONG, KANGNAM-GU,, SEOUL,
135-703, SOUTH KOREA
SN 2005-3673
EI 2093-758X
J9 J KOREAN ACAD NURS
JI J. Korean Acad. Nurs.
PD OCT
PY 2014
VL 44
IS 5
BP 563
EP 572
DI 10.4040/jkan.2014.44.5.563
PG 10
WC Nursing
SC Nursing
GA AU6SO
UT WOS:000345732300011
PM 25381787
ER
PT J
AU Donaldson, AL
Stahmer, AC
AF Donaldson, Amy L.
Stahmer, Aubyn C.
TI Team Collaboration: The Use of Behavior Principles for Serving Students
With ASD
SO LANGUAGE SPEECH AND HEARING SERVICES IN SCHOOLS
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; EARLY INTERVENTION; YOUNG-CHILDREN;
SOCIAL-SKILLS; COMMUNICATION INTERVENTIONS; DEVELOPMENTAL-DISABILITIES;
SPECIAL-EDUCATION; JOINT ATTENTION; SINGLE-SUBJECT; SYMBOLIC PLAY
AB Purpose: Speech-language pathologists (SLPs) and behavior analysts are key members of school-based teams that serve children with autism spectrum disorders (ASD). Behavior analysts approach assessment and intervention through the lens of applied behavior analysis (ABA). ABA-based interventions have been found effective for targeting skills across multiple domains for children with ASD. However, some SLPs may be unfamiliar with the breadth of ABA-based interventions. The intent of this tutorial is to briefly introduce key ABA principles, provide examples of ABA-based interventions used within schools, and identify strategies for successful collaboration between behavior analysts and SLPs.
Method: This tutorial draws from empirical studies of ABA-based interventions for children with ASD within school settings, as well as discussions in the extant literature about the use of behavior principles by SLPs and strategies for interdisciplinary collaboration.
Conclusion: Given the prevalence of ASD at 1 in 68 children (Centers for Disease Control and Prevention, 2014) and the high cost of serving these children within schools (an average cost of 286% over regular education; Chambers, Shkolnik, & Perez, 2003), the need for effective, comprehensive service provision and efficiency within interdisciplinary teams is paramount. Communication, mutual understanding, and recognition of common ground between SLPs and behavior analysts can lead to successful collaboration.
C1 [Donaldson, Amy L.] Portland State Univ, Portland, OR 97207 USA.
[Stahmer, Aubyn C.] Child & Adolescent Serv Res Ctr, San Diego, CA USA.
[Stahmer, Aubyn C.] Univ Calif San Diego, San Diego, CA 92103 USA.
[Stahmer, Aubyn C.] Rady Childrens Hosp, Autism Discovery Inst, San Diego, CA USA.
RP Donaldson, AL (reprint author), Portland State Univ, Portland, OR 97207 USA.
EM adonald@pdx.edu
CR American Psychiatric Association, 2013, DIAGNOSTIC AND STATI
American Speech-Language-Hearing Association, 2006, ROLES AND RESPONSIBI
American Speech-Language-Hearing Association, 2013, CLINICAL TOPICS DEME
American Speech-Language-Hearing Association, 2012, SCHOOLS SURVEY REPOR
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NR 102
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 0161-1461
EI 1558-9129
J9 LANG SPEECH HEAR SER
JI Lang. Speech Hear. Serv. Sch.
PD OCT
PY 2014
VL 45
IS 4
BP 261
EP 276
DI 10.1044/2014_LSHSS-14-0038
PG 16
WC Linguistics; Rehabilitation
SC Linguistics; Rehabilitation
GA AU5YX
UT WOS:000345680400003
PM 25091620
ER
PT J
AU Ebert, KD
Scott, CM
AF Ebert, Kerry Danahy
Scott, Cheryl M.
TI Relationships Between Narrative Language Samples and Norm-Referenced
Test Scores in Language Assessments of School-Age Children
SO LANGUAGE SPEECH AND HEARING SERVICES IN SCHOOLS
LA English
DT Article
ID KINDERGARTEN-CHILDREN; SYNTACTIC DEVELOPMENT; EXPOSITORY DISCOURSE;
SPEAKING CHILDREN; IMPAIRMENT; AUTISM; ADOLESCENTS; DIAGNOSIS; ENGLISH
AB Purpose: Both narrative language samples and norm-referenced language tests can be important components of language assessment for school-age children. The present study explored the relationship between these 2 tools within a group of children referred for language assessment.
Method: The study is a retrospective analysis of clinical records from 73 school-age children. Participants had completed an oral narrative language sample and at least one norm-referenced language test. Correlations between microstructural language sample measures and norm-referenced test scores were compared for younger (6- to 8-year-old) and older (9- to 12-year-old) children. Contingency tables were constructed to compare the 2 types of tools, at 2 different cutpoints, in terms of which children were identified as having a language disorder.
Results: Correlations between narrative language sample measures and norm-referenced tests were stronger for the younger group than the older group. Within the younger group, the level of language assessed by each measure contributed to associations among measures. Contingency analyses revealed moderate overlap in the children identified by each tool, with agreement affected by the cutpoint used.
Conclusions: Narrative language samples may complement norm-referenced tests well, but age combined with narrative task can be expected to influence the nature of the relationship.
C1 [Ebert, Kerry Danahy; Scott, Cheryl M.] Rush Univ, Chicago, IL 60612 USA.
RP Ebert, KD (reprint author), Rush Univ, Chicago, IL 60612 USA.
EM Kerry_ebert@rush.edu
CR BENJAMINI Y, 1995, J ROY STAT SOC B MET, V57, P289
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NR 42
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 0161-1461
EI 1558-9129
J9 LANG SPEECH HEAR SER
JI Lang. Speech Hear. Serv. Sch.
PD OCT
PY 2014
VL 45
IS 4
BP 337
EP 350
DI 10.1044/2014_LSHSS-14-0034
PG 14
WC Linguistics; Rehabilitation
SC Linguistics; Rehabilitation
GA AU5YX
UT WOS:000345680400009
ER
PT J
AU Parker-McGowan, Q
Chen, M
Reichle, J
Pandit, S
Johnson, L
Kreibich, S
AF Parker-McGowan, Quannah
Chen, Mo
Reichle, Joe
Pandit, Shivani
Johnson, LeAnne
Kreibich, Shelley
TI Describing Treatment Intensity in Milieu Teaching Interventions for
Children With Developmental Disabilities: A Review
SO LANGUAGE SPEECH AND HEARING SERVICES IN SCHOOLS
LA English
DT Review
DE dosage parameters; milieu intervention; autism; developmental
disabilities
ID PRELINGUISTIC COMMUNICATION INTERVENTIONS; BEHAVIORAL TREATMENT;
INTENTIONAL COMMUNICATION; AUTISTIC-CHILDREN; INTELLECTUAL DISABILITIES;
LANGUAGE-DEVELOPMENT; PRESCHOOL-CHILDREN; RANDOMIZED-TRIAL;
YOUNG-CHILDREN; FREQUENCY
AB Purpose: This investigation aimed to apply the dosage framework proposed by Warren, Fey, and Yoder (2007) to variations of milieu language teaching intervention strategies to explore how each of the dosage parameters (i.e., dose, dose form, dose frequency, total duration, and cumulative intervention intensity) was reported in the located empirically based applications with learners between birth and 23 years of age.
Method: A systematic search located existing studies that implemented a milieu teaching intervention for children with developmental disabilities. Dosage data were then extracted from 42 studies along with study characteristics and participant characteristics.
Results: Only 37.8% of empirical investigations provided a clear definition of treatment intensity and reported the full range of dosage parameters, thus making it difficult to compare the results across investigations. Of the investigations that reported on all dosage parameters, the majority were single-case design as opposed to group design studies.
Conclusions: Given the limited reporting of dosage parameters in existing studies, there is a need for closer attention to reporting this information in early communication intervention protocols. Replication and customization of interventions for learners experiencing developmental disabilities will only be possible with additional empirical examination of dosage parameters.
C1 [Parker-McGowan, Quannah; Chen, Mo; Reichle, Joe; Pandit, Shivani; Johnson, LeAnne; Kreibich, Shelley] Univ Minnesota, St Paul, MN 55455 USA.
RP Parker-McGowan, Q (reprint author), Univ Minnesota, St Paul, MN 55455 USA.
EM parke642@umn.edu
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NR 56
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 0161-1461
EI 1558-9129
J9 LANG SPEECH HEAR SER
JI Lang. Speech Hear. Serv. Sch.
PD OCT
PY 2014
VL 45
IS 4
BP 351
EP 364
DI 10.1044/2014_LSHSS-13-0087
PG 14
WC Linguistics; Rehabilitation
SC Linguistics; Rehabilitation
GA AU5YX
UT WOS:000345680400010
PM 25029564
ER
PT J
AU Weinger, PM
Zemon, V
Soorya, L
Gordon, J
AF Weinger, Paige M.
Zemon, Vance
Soorya, Latha
Gordon, James
TI Low-contrast response deficits and increased neural noise in children
with autism spectrum disorder
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Autism spectrum disorder; Visual evoked potential; Early-stage visual
processing; ON and OFF pathways; Neural noise
ID VISUALLY EVOKED POTENTIALS; HIGH-FUNCTIONING AUTISM; MACAQUE STRIATE
CORTEX; PROCESSING ABNORMALITIES; SPATIAL-FREQUENCY; PERCEPTION; MOTION;
SENSITIVITY; BRAIN; ADOLESCENTS
AB A battery of short-duration neurophysiological tests were designed and implemented using visual evoked potentials (VEPs) to examine specific neural mechanisms in children with and without autism spectrum disorder (ASD). Contrast-sweep conditions (bright or dark isolated-checks) were used to elicit steady-state VEPs to examine the integrity of ON/OFF pathways. Children with ASD displayed deficits in low-contrast responses at the stimulus frequency of 12.5 Hz, notably under conditions that emphasized activity in the magnocellular pathway. Signal-to-noise ratios were weaker in the ASD group, particularly for the OFF pathway. There were no group differences in the amplitude of responses. In addition, the ASD group displayed significantly higher levels of neural noise than controls. For the response at the stimulus frequency, the ASD group produced a relatively constant level of noise across the contrast range tested, with higher levels than controls at low contrasts and approximately equal levels of noise at moderate to high contrasts. Published by Elsevier Ltd.
C1 [Weinger, Paige M.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr, New York, NY 10029 USA.
[Soorya, Latha] Rush Univ, Med Ctr, Chicago, IL 60612 USA.
[Zemon, Vance] Yeshiva Univ, New York, NY 10033 USA.
[Gordon, James] Hunter Coll, New York, NY USA.
RP Weinger, PM (reprint author), Icahn Sch Med Mt Sinai, Seaver Autism Ctr, One Gustave Levy Pl,Box 1230 Atran Bldg E Level,R, New York, NY 10029 USA.
EM paige.weinger@mssm.edu
FU Autism Speaks [8685]
FX We would like to thank the children and families who participated in
this study and the individuals who assisted with recruitment and data
collection. A special thank you to Valerie Nunez, Theresa Navalta,
Adeola Harewood, Stacey Lurie and Jesslyn Jaminson. This work was
partially supported by Autism Speaks (Grant #8685).
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NR 66
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3932
EI 1873-3514
J9 NEUROPSYCHOLOGIA
JI Neuropsychologia
PD OCT
PY 2014
VL 63
BP 10
EP 18
DI 10.1016/j.neuropsychologia.2014.07.031
PG 9
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AU7ZQ
UT WOS:000345817100002
PM 25107679
ER
PT J
AU Verhallen, RJ
Bosten, JM
Goodbourn, PT
Bargary, G
Lawrance-Owen, AJ
Mollon, JD
AF Verhallen, Roeland J.
Bosten, Jenny M.
Goodbourn, Patrick T.
Bargary, Gary
Lawrance-Owen, Adam J.
Mollon, J. D.
TI An online version of the Mooney Face Test: phenotypic and genetic
associations
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Face perception; Mooney Face Test; Closure; Gestalt perception;
Individual differences; Genome-wide association study (GWAS); RAPGEF5;
rs1522280
ID SUBJECTIVE CONTOUR ILLUSIONS; AUTISM SPECTRUM DISORDERS; HOLISTIC
PERCEPTION; FUNCTIONING AUTISM; VISUAL CLOSURE; TEMPORAL-LOBE;
RECOGNITION; ABILITY; IDENTIFICATION; PERFORMANCE
AB The Mooney Face Test is a widely used test of face perception, but was originally designed to be administered by personal interview. We have developed a three-alternative forced-choice version for online testing. We tested 397 healthy adults between the ages of 18 and 42 (M=24 years). There was a wide range of performance (64-100% correct; M=89.6%). We observed a significant sex difference favoring males (.31 standard deviation; p =.004). In addition, independently of sex, higher 2D:4D digit ratios were significantly associated with higher scores (rho=.14, p=.006). A genome-wide association study (GWAS) for a subset of 370 participants identified an association between Mooney performance and a polymorphism in the RAPGEF5 gene (rs1522280; p=9.68 x 10(-8)). This association survives a permutation test (p=.031). (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Verhallen, Roeland J.; Bosten, Jenny M.; Goodbourn, Patrick T.; Lawrance-Owen, Adam J.; Mollon, J. D.] Univ Cambridge, Dept Psychol, Cambridge CB2 3EB, England.
[Goodbourn, Patrick T.] Univ Sydney, Sch Psychol, Sydney, NSW 2006, Australia.
[Bargary, Gary] City Univ London, Appl Vis Res Ctr, London EC1V 0HB, England.
RP Verhallen, RJ (reprint author), Univ Cambridge, Dept Psychol, Downing St, Cambridge CB2 3EB, England.
EM rjv31@cam.ac.uk
FU Gatsby Charitable Foundation [GAT2903]
FX This work was supported by the Gatsby Charitable Foundation (GAT2903).
We thank Horace Barlow, Roger Freedman, Graeme Mitchison, and Richard
Durbin for their roles in initiating the PERGENIC project. We are
grateful to Emily Clemente, Julien Bauer and Kerry Cliffe of Cambridge
Genomic Services for their valuable help.
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NR 54
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3932
EI 1873-3514
J9 NEUROPSYCHOLOGIA
JI Neuropsychologia
PD OCT
PY 2014
VL 63
BP 19
EP 25
DI 10.1016/j.neuropsychologia.2014.08.011
PG 7
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AU7ZQ
UT WOS:000345817100003
PM 25138019
ER
PT J
AU Ichikawa, H
Nakato, E
Kanazawa, S
Shimamura, K
Sakuta, Y
Sakuta, R
Yamaguchi, MK
Kakigi, R
AF Ichikawa, Hiroko
Nakato, Emi
Kanazawa, So
Shimamura, Keiichi
Sakuta, Yuiko
Sakuta, Ryoichi
Yamaguchi, Masami K.
Kakigi, Ryusuke
TI Hemodynamic response of children with attention-deficit and hyperactive
disorder (ADHD) to emotional facial expressions
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Face processing; ADHD; Near-infrared spectroscopy; NIRS;
Occipito-temporal area
ID NEAR-INFRARED SPECTROSCOPY; SUPERIOR TEMPORAL SULCUS;
DEFICIT/HYPERACTIVITY DISORDER; FACE PERCEPTION; GAZE-DIRECTION; HUMAN
BRAIN; RECOGNITION; CORTEX; ACTIVATION; AUTISM
AB Children with attention-deficit/hyperactivity disorder (ADHD) have difficulty recognizing facial expressions. They identify angry expressions less accurately than typically developing (TD) children, yet little is known about their atypical neural basis for the recognition of facial expressions. Here, we used near-infrared spectroscopy (NIRS) to examine the distinctive cerebral hemodynamics of ADHD and TD children while they viewed happy and angry expressions. We measured the hemodynamic responses of 13 ADHD boys and 13 TD boys to happy and angry expressions at their bilateral temporal areas, which are sensitive to face processing. The ADHD children showed an increased concentration of oxy-Hb for happy faces but not for angry faces, while TD children showed increased oxy-Hb for both faces. Moreover, the individual peak latency of hemodynamic response in the right temporal area showed significantly greater variance in the ADHD group than in the TD group. Such atypical brain activity observed in ADHD boys may relate to their preserved ability to recognize a happy expression and their difficulty recognizing an angry expression. We firstly demonstrated that NIRS can be used to detect atypical hemodynamic response to facial expressions in ADHD children. (C) 2014 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
C1 [Ichikawa, Hiroko; Yamaguchi, Masami K.] Chuo Univ, Dept Psychol, Hachioji, Tokyo 1920393, Japan.
[Ichikawa, Hiroko; Sakuta, Yuiko; Yamaguchi, Masami K.] Chuo Univ, Res & Dev Initiat, Tokyo 1128551, Japan.
[Ichikawa, Hiroko] Japan Soc Promot Sci, Chiyoda Ku, Tokyo 1028471, Japan.
[Nakato, Emi] Osaka Shoin Womens Univ, Dept Clothing Sci, Higashiosaka, Osaka 5778550, Japan.
[Kanazawa, So] Japan Womens Univ, Dept Psychol, Kawasaki, Kanagawa 2148565, Japan.
[Shimamura, Keiichi; Sakuta, Ryoichi] Dokkyo Med Univ, Koshigaya Hosp, Ctr Child Dev & Psychosomat Med, Koshigaya, Saitama 3430845, Japan.
[Kakigi, Ryusuke] Natl Inst Physiol Sci, Dept Integrat Physiol, Okazaki, Aichi 4448585, Japan.
RP Ichikawa, H (reprint author), Chuo Univ, Dept Psychol, Hachioji, Tokyo 1920393, Japan.
EM ichihiro@tamacc.chuo-u.ac.jp
FU MEXT KAKENHI [20119002]; JSPS KAKENHI [26120529]; JSPS Research
Fellowships for Young Scientists from the Japan Society for the
Promotion of Science [24 7809]
FX This study was supported by Grant-in-Aid for Scientific Research on
Innovative Areas, 'Face perception and recognition' from MEXT KAKENHI
[20119002 to M. K. Y.]; Grant-in-Aid for Scientific Research on
Innovative Areas, "Sparse Modeling" from JSPS KAKENHI (26120529 to H.
I.); and Grant-in-Aid for Scientific Research by JSPS Research
Fellowships for Young Scientists [24 7809 to H. I.] from the Japan
Society for the Promotion of Science. The authors report no biomedical
financial interests.
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NR 55
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3932
EI 1873-3514
J9 NEUROPSYCHOLOGIA
JI Neuropsychologia
PD OCT
PY 2014
VL 63
BP 51
EP 58
DI 10.1016/j.neuropsychologia.2014.08.010
PG 8
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AU7ZQ
UT WOS:000345817100007
PM 25152531
ER
PT J
AU Bickart, KC
Dickerson, BC
Barrett, LF
AF Bickart, Kevin C.
Dickerson, Bradford C.
Barrett, Lisa Feldman
TI The amygdala as a hub in brain networks that support social life
SO NEUROPSYCHOLOGIA
LA English
DT Review
DE Amygdala; Networks; Social life; Social brain; Social network
ID MEDIAL PREFRONTAL NETWORKS; VARIANT FRONTOTEMPORAL DEMENTIA; INTRINSIC
FUNCTIONAL CONNECTIVITY; IMPAIRED AFFECTIVE THEORY; CORTICAL AREAS TE;
MACAQUE MONKEYS; NEURAL RESPONSES; INDIVIDUAL-DIFFERENCES; FACIAL
EXPRESSIONS; DECISION-MAKING
AB A growing body of evidence suggests that the amygdala is central to handling the demands of complex social life in primates. In this paper, we synthesize extant anatomical and functional data from rodents, monkeys, and humans to describe the topography of three partially distinct large-scale brain networks anchored in the amygdala that each support unique functions for effectively managing social interactions and maintaining social relationships. These findings provide a powerful componential framework for parsing social behavior into partially distinct neural underpinnings that differ among healthy people and disintegrate or fail to develop in neuropsychiatric populations marked by social impairment, such as autism, antisocial personality disorder, and frontotemporal dementia. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Bickart, Kevin C.] Northeastern Univ, Boston Univ, Sch Med, Dept Anat & Neurobiol, Boston, MA 02115 USA.
[Dickerson, Bradford C.; Barrett, Lisa Feldman] Northeastern Univ, Psychiat Neuroimaging Res Program, Boston, MA 02115 USA.
[Dickerson, Bradford C.; Barrett, Lisa Feldman] Northeastern Univ, Martinos Ctr Biomed Imaging, Boston, MA 02115 USA.
[Dickerson, Bradford C.] Massachusetts Gen Hosp, Dept Neurol, Frontotemporal Disorders Unit, Boston, MA 02114 USA.
[Dickerson, Bradford C.] Harvard Univ, Sch Med, Cambridge, MA 02138 USA.
[Barrett, Lisa Feldman] Northeastern Univ, Dept Psychol, Boston, MA 02115 USA.
RP Barrett, LF (reprint author), Northeastern Univ, Dept Psychol, 125 Nightingale Hall, Boston, MA 02115 USA.
EM l.barrett@neu.edu
FU [R21-MH097094]; [R21-NS084156]
FX The authors gratefully acknowledge patients and families who have
participated in research, and funding sources including R21-MH097094 and
R21-NS084156.
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NR 215
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3932
EI 1873-3514
J9 NEUROPSYCHOLOGIA
JI Neuropsychologia
PD OCT
PY 2014
VL 63
BP 235
EP 248
DI 10.1016/j.neuropsychologia.2014.08.013
PG 14
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AU7ZQ
UT WOS:000345817100026
PM 25152530
ER
PT J
AU Wang, S
Xu, J
Jiang, M
Zhao, Q
Hurlemann, R
Adolphs, R
AF Wang, Shuo
Xu, Juan
Jiang, Ming
Zhao, Qi
Hurlemann, Rene
Adolphs, Ralph
TI Autism spectrum disorder, but not amygdala lesions, impairs social
attention in visual search
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Visual search; Autism; Amygdala; Saliency; Social
ID HIGH-FUNCTIONING AUTISM; FACIAL EXPRESSIONS; EMOTIONAL FACES;
CIRCUMSCRIBED ATTENTION; BILATERAL DAMAGE; MONKEY AMYGDALA;
YOUNG-CHILDREN; TEMPORAL-LOBE; ATYPICAL GAZE; BRAIN
AB People with autism spectrum disorders (ASD) have pervasive impairments in social interactions, a diagnostic component that may have its roots in atypical social motivation and attention. One of the brain structures implicated in the social abnormalities seen in ASD is the amygdala. To further characterize the impairment of people with ASD in social attention, and to explore the possible role of the amygdala, we employed a series of visual search tasks with both social (faces and people with different postures, emotions, ages, and genders) and non-social stimuli (e.g., electronics, food, and utensils). We first conducted trial-wise analyses of fixation properties and elucidated visual search mechanisms. We found that an attentional mechanism of initial orientation could explain the detection advantage of non-social targets. We then zoomed into fixation-wise analyses. We defined target-relevant effects as the difference in the percentage of fixations that fell on target-congruent vs. target-incongruent items in the array. In Experiment 1, we tested 8 high-functioning adults with ASD, 3 adults with focal bilateral amygdala lesions, and 19 controls. Controls rapidly oriented to target-congruent items and showed a strong and sustained preference for fixating them. Strikingly, people with ASD oriented significantly less and more slowly to target-congruent items, an attentional deficit especially with social targets. By contrast, patients with amygdala lesions performed indistinguishably from controls. In Experiment 2, we recruited a different sample of 13 people with ASD and 8 healthy controls, and tested them on the same search arrays but with all array items equalized for low-level saliency. The results replicated those of Experiment 1. In Experiment 3, we recruited 13 people with ASD, 8 healthy controls, 3 amygdala lesion patients and another group of 11 controls and tested them on a simpler array. Here our group effect for ASD strongly diminished and all four subject groups showed similar target-relevant effects. These findings argue for an attentional deficit in ASD that is disproportionate for social stimuli, cannot be explained by low-level visual properties of the stimuli, and is more severe with high-load top-down task demands. Furthermore, this deficit appears to be independent of the amygdala, and not evident from general social bias independent of the target-directed search. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Wang, Shuo; Adolphs, Ralph] CALTECH, Pasadena, CA 91125 USA.
[Xu, Juan; Jiang, Ming; Zhao, Qi] Natl Univ Singapore, Dept Elect & Comp Engn, Singapore 117583, Singapore.
[Hurlemann, Rene] Univ Bonn, Dept Psychiat, D-53105 Bonn, Germany.
RP Wang, S (reprint author), 114-96,1200 E Calif Blvd, Pasadena, CA 91125 USA.
EM wangshuo45@gmail.com
FU R01 Grant from NIMH; NIMH Conte Center; Singapore Ministry of Education
Academic Research Fund Tier 1 [R-263-000-A49-112]
FX We thank Jed Elison and Noah Sasson for providing the original stimuli,
Ty Basinger for creating some of the stimuli, Lynn Paul for
psychological assessments, and Mike Tyszka for providing the anatomical
scans of the amygdala lesion patients. This research was supported in
part by an R01 Grant from NIMH, an NIMH Conte Center, and the Singapore
Ministry of Education Academic Research Fund Tier 1 (No.
R-263-000-A49-112). 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 102
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3932
EI 1873-3514
J9 NEUROPSYCHOLOGIA
JI Neuropsychologia
PD OCT
PY 2014
VL 63
BP 259
EP 274
DI 10.1016/j.neuropsychologia.2014.09.002
PG 16
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AU7ZQ
UT WOS:000345817100028
PM 25218953
ER
PT J
AU Santos, AR
Kanellopoulos, AK
Bagni, C
AF Santos, Ana Rita
Kanellopoulos, Alexandros K.
Bagni, Claudia
TI Learning and behavioral deficits associated with the absence of the
fragile X mental retardation protein: what a fly and mouse model can
teach us
SO LEARNING & MEMORY
LA English
DT Review
ID FMR1 KNOCKOUT MICE; LONG-TERM-MEMORY; DENDRITIC SPINE PATHOLOGY;
RNA-BINDING PROTEINS; SYNAPTIC PLASTICITY; MESSENGER-RNA;
DROSOPHILA-MELANOGASTER; MINOCYCLINE TREATMENT; CIRCADIAN CLOCK;
MUSHROOM BODIES
AB The Fragile X syndrome (FXS) is the most frequent form of inherited mental disability and is considered a monogenic cause of autism spectrum disorder. FXS is caused by a triplet expansion that inhibits the expression of the FMR1 gene. The gene product, the Fragile X Mental Retardation Protein (FMRP), regulates mRNA metabolism in brain and nonneuronal cells. During brain development, FMRP controls the expression of key molecules involved in receptor signaling, cytoskeleton remodeling, protein synthesis and, ultimately, spine morphology. Symptoms associated with FXS include neurodevelopmental delay, cognitive impairment, anxiety, hyperactivity, and autistic-like behavior. Twenty years ago the first Fmr1 KO mouse to study FXS was generated, and several years later other key models including the mutant Drosophila melanogaster, dFmr1, have further helped the understanding of the cellular and molecular causes behind this complex syndrome. Here, we review to which extent these biological models are affected by the absence of FMRP, pointing out the similarities with the observed human dysfunction. Additionally, we discuss several potential treatments under study in animal models that are able to partially revert some of the FXS abnormalities.
C1 [Santos, Ana Rita; Kanellopoulos, Alexandros K.; Bagni, Claudia] VIB Ctr Biol Dis, B-3000 Leuven, Belgium.
[Santos, Ana Rita; Kanellopoulos, Alexandros K.; Bagni, Claudia] Katholieke Univ Leuven, Ctr Human Genet, B-3000 Leuven, Belgium.
[Santos, Ana Rita; Kanellopoulos, Alexandros K.; Bagni, Claudia] Katholieke Univ Leuven, Leuven Inst Neurodegenerat Dis LIND, B-3000 Leuven, Belgium.
[Bagni, Claudia] Univ Roma Tor Vergata, Dept Biomed & Prevent, I-00133 Rome, Italy.
RP Bagni, C (reprint author), VIB Ctr Biol Dis, B-3000 Leuven, Belgium.
EM claudia.bagni@uniroma2.it
FU VIB; SAO; Associazione Italiana Sindrome X Fragile; Queen Elisabeth
Foundation (Belgium); CARIPLO; EU-FP7 "SynSys" [HEALTH-2009-2.1.2-1];
Marie Curie-COFUND VIB fellowship; [FWO-G.0705.11]; [FWO-G.0667.09]
FX We thank Efthimios M. C. Skoulakis (BSRC Alexander Fleming, Greece) for
reading the manuscript and providing insightful comments and
suggestions. We are extremely grateful to Myles W. Jackson (NYU) for his
thoughtful proofreading of the text. This work was supported by grants
from VIB, SAO, FWO-G.0705.11, and FWO-G.0667.09, Associazione Italiana
Sindrome X Fragile, Queen Elisabeth Foundation (Belgium), CARIPLO,
HEALTH-2009-2.1.2-1 EU-FP7 "SynSys." Ana Rita Santos is recipient of a
Marie Curie-COFUND VIB fellowship (omics@vib). We thank Eef Lemmens for
her excellent administrative support.
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NR 194
TC 0
Z9 0
PU COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
PI COLD SPRING HARBOR
PA 1 BUNGTOWN RD, COLD SPRING HARBOR, NY 11724 USA
SN 1072-0502
EI 1549-5485
J9 LEARN MEMORY
JI Learn. Mem.
PD OCT
PY 2014
VL 21
IS 10
BP 543
EP 555
DI 10.1101/lm.035956.114
PG 13
WC Neurosciences; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AS1RI
UT WOS:000344057800009
PM 25227249
ER
PT J
AU Samuels, J
Grados, MA
Riddle, MA
Bienvenu, OJ
Goes, FS
Cullen, B
Wang, Y
Greenberg, BD
Fyer, AJ
McCracken, JT
Geller, D
Murphy, DL
Knowles, JA
Rasmussen, SA
McLaughlin, NC
Piacentini, J
Pauls, DL
Stewart, SE
Shugart, YY
Maher, B
Pulver, AE
Nestadt, G
AF Samuels, Jack
Grados, Marco A.
Riddle, Mark A.
Bienvenu, O. Joseph
Goes, Fernando S.
Cullen, Bernadette
Wang, Ying
Greenberg, Benjamin D.
Fyer, Abby J.
McCracken, James T.
Geller, Dan
Murphy, Dennis L.
Knowles, James A.
Rasmussen, Steven A.
McLaughlin, Nicole C.
Piacentini, John
Pauls, David L.
Stewart, S. Evelyn
Shugart, Yin-Yao
Maher, Brion
Pulver, Ann E.
Nestadt, Gerald
TI Hoarding in children and adolescents with obsessive-compulsive disorder
SO JOURNAL OF OBSESSIVE-COMPULSIVE AND RELATED DISORDERS
LA English
DT Article
DE OCD; Children; Adolescents; Hoarding; Social reciprocity; Indecision
ID OCD COLLABORATIVE GENETICS; FACTOR-ANALYZED SYMPTOM; YOUNG-CHILDREN;
LIFE EVENTS; BEHAVIOR; DIMENSIONS; AUTISM; INDIVIDUALS; SAMPLE;
SCHIZOPHRENIA
AB Compared to studies in adults, there have been few studies of hoarding in children and adolescents with obsessive-compulsive disorder (OCD). In the current study, we evaluated OCD clinical features, Axis I disorders, and social reciprocity scores in 641 children and adolescents with OCD, of whom 163 (25%) had hoarding compulsions and 478 did not. We found that, as a group, youth with hoarding had an earlier age at onset and more severe lifetime OCD symptoms, poorer insight, more difficulty making decisions and completing tasks, and more overall impairment. The hoarding group also had a greater lifetime prevalence of panic disorder, specific phobia, burette disorder, and tics. As measured with the Social Reciprocity Scale, the hoarding group had more severe deficits in parent-rated domains of social communication, social motivation, and restricted interests and repetitive behavior. In a multivariable model, the overall social reciprocity score, age at onset of OCD symptoms, symmetry obsessions, and indecision were independently related to hoarding in these children and adolescents with OCD. These features should be considered as candidate risk factors for the development of hoarding behavior in pediatric OCD. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Samuels, Jack; Grados, Marco A.; Riddle, Mark A.; Bienvenu, O. Joseph; Goes, Fernando S.; Cullen, Bernadette; Wang, Ying; Pulver, Ann E.; Nestadt, Gerald] Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA.
[Greenberg, Benjamin D.; Rasmussen, Steven A.; McLaughlin, Nicole C.] Butler Hosp, Brown Med Sch, Dept Psychiat & Behav Sci, Providence, RI 02906 USA.
[Fyer, Abby J.] Columbia Univ Coll Phys & Surg, Dept Psychiat, New York, NY 10032 USA.
[Fyer, Abby J.] New York State Psychiat Inst & Hosp, New York, NY 10032 USA.
[McCracken, James T.; Piacentini, John] Univ Calif Los Angeles, Sch Med, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90024 USA.
[Geller, Dan] Harvard Univ, Sch Med, Dept Psychiat, Boston, MA 02115 USA.
[Murphy, Dennis L.] NIMH, Clin Sci Lab, NIH, Bethesda, MD 20892 USA.
[McCracken, James T.] Univ So Calif, Sch Med, Dept Psychiat, Los Angeles, CA USA.
[Murphy, Dennis L.] Massachusetts Gen Hosp, Dept Psychiat, Boston, MA 02114 USA.
[Pauls, David L.] Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
[Pauls, David L.] Harvard Univ, Sch Med, Boston, MA USA.
[Stewart, S. Evelyn] Univ British Columbia, Dept Psychiat, Fac Med, Vancouver, BC, Canada.
[Shugart, Yin-Yao] NIMH, Unit Stat Genom, Div Intramural Res, Bethesda, MD 20892 USA.
[Maher, Brion] Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Dept Mental Hlth, Baltimore, MD USA.
RP Samuels, J (reprint author), Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA.
EM jacks@jhmi.edu
FU National Institutes of Health [MH50214, MH071507, MH79487, MH079488,
MH079489, MH07 9494, K23-MH-64543, NIH/NCRR/OPD-GCRC RR00052]; James E.
Marshall OCD Foundation
FX This work was supported by National Institutes of Health grants MH50214,
MH071507, MH79487, MH079488, MH079489, MH07 9494, K23-MH-64543,
NIH/NCRR/OPD-GCRC RR00052, and by the James E. Marshall OCD Foundation.
The National Institutes of Health and the James E. Marshall OCD
Foundation had no role in the study design, collection, data analysis
and interpretation, or writing the manuscript.
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NR 63
TC 0
Z9 0
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 OCT
PY 2014
VL 3
IS 4
BP 325
EP 331
DI 10.1016/j.jocrd.2014.08.001
PG 7
WC Psychiatry
SC Psychiatry
GA AU4TN
UT WOS:000345604400004
ER
PT J
AU Tania, M
Khan, MA
Xia, K
AF Tania, Mousumi
Khan, Md Asaduzzaman
Xia, Kun
TI Recent advances in animal model experimentation in autism research
SO ACTA NEUROPSYCHIATRICA
LA English
DT Review
DE animal model; autism; genetic manipulations; translational research
ID TUBEROUS SCLEROSIS COMPLEX; PRODUCT PROPIONIC-ACID; SPECTRUM DISORDERS;
MOUSE MODEL; VALPROIC ACID; PRENATAL EXPOSURE; SOCIAL-BEHAVIOR;
RETT-SYNDROME; MUTANT MICE; RAT
AB Objective: Autism, a lifelong neuro-developmental disorder is a uniquely human condition. Animal models are not the perfect tools for the full understanding of human development and behavior, but they can be an important place to start. This review focused on the recent updates of animal model research in autism.
Methods: We have reviewed the publications over the last three decades, which are related to animal model study in autism.
Results: Animal models are important because they allow researchers to study the underlying neurobiology in a way that is not possible in humans. Improving the availability of better animal models will help the field to increase the development of medicines that can relieve disabling symptoms. Results from the therapeutic approaches are encouraging remarkably, since some behavioral alterations could be reversed even when treatment was performed on adult mice. Finding an animal model system with similar behavioral tendencies as humans is thus vital for understanding the brain mechanisms, supporting social motivation and attention, and the manner in which these mechanisms break down in autism. The ongoing studies should therefore increase the understanding of the biological alterations associated with autism as well as the development of knowledge-based treatments therapy for those struggling with autism.
Conclusion: In this review, we have presented recent advances in research based on animal models of autism, raising hope for understanding the disease biology for potential therapeutic intervention to improve the quality of life of autism individuals.
C1 [Tania, Mousumi; Xia, Kun] Cent S Univ, State Key Lab Med Genet, Changsha, Hunan, Peoples R China.
[Tania, Mousumi; Khan, Md Asaduzzaman] Cent S Univ, Sch Life Sci, Dept Biochem, Changsha, Hunan, Peoples R China.
[Khan, Md Asaduzzaman] Luzhou Med Coll, Res Ctr Preclin Med, Luzhou, Sichuan, Peoples R China.
RP Xia, K (reprint author), Cent S Univ, State Key Lab Med Genet, Changsha, Hunan, Peoples R China.
EM xiakun@sklmg.edu.cn
FU National Basic Research Program of China [2012CB517902]; National
Natural Science Foundation of China [81070081]
FX This work has been supported by The National Basic Research Program of
China (2012CB517902) and National Natural Science Foundation of China
(81070081). Authors are thankful to all the teachers and students of
State Key lab of Medical Genetics, Central South University.
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NR 63
TC 1
Z9 1
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 1601-5215
J9 ACTA NEUROPSYCHIATR
JI Acta Neuropsychiatr.
PD OCT
PY 2014
VL 26
IS 5
BP 264
EP 271
DI 10.1017/neu.2013.58
PG 8
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AT5PS
UT WOS:000344995200002
PM 25371923
ER
PT J
AU Tonkin, BL
Ogilvie, BD
Greenwood, SA
Law, MC
Anaby, DR
AF Tonkin, Brenna L.
Ogilvie, Briana D.
Greenwood, Sarah A.
Law, Mary C.
Anaby, Dana R.
TI The participation of children and youth with disabilities in activities
outside of school: A scoping review
SO CANADIAN JOURNAL OF OCCUPATIONAL THERAPY-REVUE CANADIENNE D ERGOTHERAPIE
LA English
DT Article
DE Child development; Developmental disabilities; Leisure activities;
Occupation; Participation
ID ACQUIRED BRAIN-INJURY; CEREBRAL-PALSY PARTICIPATE; TYPICALLY DEVELOPING
PEERS; AUTISM SPECTRUM DISORDER; PHYSICAL-DISABILITIES; LEISURE
ACTIVITIES; SOCIAL-PARTICIPATION; AGED CHILDREN; IN-HOME; PATTERNS
AB Background. Participation in occupations is vital for learning and development. Children with disabilities are at risk for decreased participation. Purpose. The purpose of this study is to examine peer-reviewed literature about the participation-based experiences of children and youth with disabilities in activities outside of formal preschool and school academics. Method. A scoping review was conducted to examine research studies published between 1990 and 2012. Studies included participants from 2 to 18 years who had at least one physical or intellectual/cognitive disability. Findings. Forty-nine articles discussing 32 studies and three systematic reviews met the inclusion criteria. Perceptions of and influences on participation were important emerging themes about direct impacts on patterns of participation. A child or youth's level of functioning, activity level, level of enjoyment, and contextual factors were found to influence their level of successful participation. Implications. Occupational therapists can use the findings from this review to consider supports and barriers within interventions to enhance participation in meaningful life situations.
C1 [Tonkin, Brenna L.] Canadore Coll, OTA PTA Program, North Bay, ON P1B 8K9, Canada.
[Ogilvie, Briana D.] Lake Woods Dist Hosp, Kenora, ON, Canada.
[Greenwood, Sarah A.] North Bay Reg Hlth Ctr, Law & Mental Hlth Program, North Bay, ON, Canada.
[Law, Mary C.] McMaster Univ, Sch Rehabil Sci, Hamilton, ON, Canada.
[Law, Mary C.] McMaster Univ, CanChild Ctr Childhood Disabil Res, Hamilton, ON, Canada.
[Anaby, Dana R.] McGill Univ, Sch Phys & Occupat Therapy, Montreal, PQ, Canada.
RP Tonkin, BL (reprint author), Canadore Coll, 100 Coll Dr,Box 5001, North Bay, ON P1B 8K9, Canada.
EM Brenna.Tonkin@canadorecollege.ca
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NR 73
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0008-4174
EI 1911-9828
J9 CAN J OCCUP THER
JI Can. J. Occup. Ther.
PD OCT
PY 2014
VL 81
IS 4
BP 226
EP 236
DI 10.1177/0008417414550998
PG 11
WC Rehabilitation
SC Rehabilitation
GA AT8QS
UT WOS:000345197900006
ER
PT J
AU Dalrymple, KA
Garrido, L
Duchaine, B
AF Dalrymple, Kirsten A.
Garrido, Lucia
Duchaine, Brad
TI Dissociation between face perception and face memory in adults, but not
children, with developmental prosopagnosia
SO DEVELOPMENTAL COGNITIVE NEUROSCIENCE
LA English
DT Article
DE Children; Development; Developmental prosopagnosia; Face memory; Face
perception; Face recognition
ID CONGENITAL PROSOPAGNOSIA; ACQUIRED PROSOPAGNOSIA; IDENTITY RECOGNITION;
TEST SCORE; AGNOSIA; NEUROPSYCHOLOGY; INDIVIDUALS; IMPAIRMENT; CHILDHOOD
AB Cognitive models propose that face recognition is accomplished through a series of discrete stages, including perceptual representation of facial structure, and encoding and retrieval of facial information. This implies that impaired face recognition can result from failures of face perception, face memory, or both. Studies of acquired prosopagnosia, autism spectrum disorders, and the development of normal face recognition support the idea that face perception and face memory are distinct processes, yet this distinction has received little attention in developmental prosopagnosia (DP). To address this issue, we tested the face perception and face memory of children and adults with DP. By definition, face memory is impaired in DP, so memory deficits were present in all participants. However, we found that all children, but only half of the adults had impaired face perception. Thus, results from adults indicate that face perception and face memory are dissociable, while the results from children provide no evidence for this division. Importantly, our findings raise the possibility that DP is qualitatively different in childhood versus adulthood. We discuss theoretical explanations for this developmental pattern and conclude that longitudinal studies are necessary to better understand the developmental trajectory of face perception and face memory deficits in DP. (C) 2014 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY license (lattp://creativecommons.org/licenses/by/3.0/).
C1 [Dalrymple, Kirsten A.] Univ Minnesota, Inst Child Dev, Minneapolis, MN 55455 USA.
[Garrido, Lucia] Brunel Univ, Dept Psychol, London, England.
[Duchaine, Brad] Dartmouth Coll, Dept Psychol & Brain Sci, Hanover, NH 03755 USA.
RP Dalrymple, KA (reprint author), Univ Minnesota, Inst Child Dev, 51 East River Pkwy, Minneapolis, MN 55455 USA.
EM kad@umn.edu
FU Economic and Social Research Council (ESRC) [RES-062-23-2426]
FX KAD was supported by an Economic and Social Research Council (ESRC)
grant awarded to BD (grant number RES-062-23-2426). We thank Joe DeGutis
for his feedback on our findings and Zachary Potter for his technical
assistance. We also thank the adult and child participants and their
families for their involvement in this study.
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NR 57
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1878-9293
EI 1878-9307
J9 DEV COGN NEUROS-NETH
JI Dev. Cogn. Neurosci.
PD OCT
PY 2014
VL 10
BP 10
EP 20
DI 10.1016/j.dcn.2014.07.003
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AT4XA
UT WOS:000344944200002
PM 25160676
ER
PT J
AU Jack, A
Morris, JP
AF Jack, Allison
Morris, James P.
TI Neocerebellar contributions to social perception in adolescents with
autism spectrum disorder
SO DEVELOPMENTAL COGNITIVE NEUROSCIENCE
LA English
DT Article
DE Autism spectrum disorders; Cerebellum; Imitation; Effective
connectivity; Mentalizing; Superior temporal sulcus
ID SUPERIOR TEMPORAL SULCUS; MIRROR NEURON SYSTEM; FUNCTIONAL CONNECTIVITY;
BIOLOGICAL-MOTION; PSYCHOPHYSIOLOGICAL INTERACTIONS; CEREBELLAR CORTEX;
ALE METAANALYSIS; BRAIN MECHANISMS; BROCAS AREA; MOTOR TASK
AB Posterior superior temporal sulcus (pSTS) is specialized for interpreting perceived human actions, and disruptions to its function occur in autism spectrum disorder (ASD). Here we consider the role of Crus I of neocerebellum in supporting pSTS function. Research has associated Crus I activity with imitation and biological motion perception, and neocerebellum is theorized to coordinate activity among cerebral sites more generally. Moreover, cerebellar abnormalities have been associated with ASD. We hypothesized that disordered Crus I-pSTS interactions could predict social deficits in ASD. 15 high functioning adolescents with ASD and 15 same-age comparison youth participated in an fMRI imitation paradigm; ratings of mentalizing ability were collected via parent report. We predicted that stronger Crus I-pSTS interactions would be associated with better mentalizing ability. Consistent with these hypotheses, stronger psychophysiological interactions between Crus I and right pSTS were associated with greater mentalizing ability among adolescents with ASD. Wholebrain analyses also indicated that typically developing youth recruited right inferior frontal gyrus, left pSTS, medial occipital regions, and precuneus more strongly during imitation than did youth with ASD. Overall, these results indicate that variability in neocerebellar interactions with key cortical social brain sites may help explain individual differences in social perceptual outcomes in ASD. (C) 2014 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
C1 [Jack, Allison; Morris, James P.] Univ Virginia, Dept Psychol, Charlottesville, VA 22903 USA.
RP Jack, A (reprint author), Yale Child Study Ctr, 230 South Frontage Rd, New Haven, CT 06519 USA.
EM allison.jack@yale.edu
FU National Institute of Mental Health [R00-MH079617]; University of
Virginia; National Center for Research Resources [S10 RR019895, S10
RR029676-01]
FX This work was supported by a Pathway to Independence Grant from the
National Institute of Mental Health (R00-MH079617 to J.P.M.) and by
research funds from the University of Virginia. A portion of the
neuroimaging analysis was conducted through the Yale University
Biomedical High Performance Computing Center, which is supported by
Biomedical Research Support Shared Instrumentation Grants from the
National Center for Research Resources (S10 RR019895 and S10
RR029676-01). The funding sources had no involvement in study design;
collection, analysis and interpretation of data; in the writing of the
report; or in the decision to submit the article for publication.
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NR 99
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1878-9293
EI 1878-9307
J9 DEV COGN NEUROS-NETH
JI Dev. Cogn. Neurosci.
PD OCT
PY 2014
VL 10
BP 77
EP 92
DI 10.1016/j.dcn.2014.08.001
PG 16
WC Neurosciences
SC Neurosciences & Neurology
GA AT4XA
UT WOS:000344944200007
PM 25170555
ER
PT J
AU Kohls, G
Thonessen, H
Bartley, GK
Grossheinrich, N
Fink, GR
Herpertz-Dahlmann, B
Konrad, K
AF Kohls, Gregor
Thoenessen, Heike
Bartley, Gregory K.
Grossheinrich, Nicola
Fink, Gereon R.
Herpertz-Dahlmann, Beate
Konrad, Kerstin
TI Differentiating neural reward responsiveness in autism versus ADHD
SO DEVELOPMENTAL COGNITIVE NEUROSCIENCE
LA English
DT Article
DE Autism spectrum disorder; ADHD; Social reward; Monetary reward; Ventral
striatum; Medial prefrontal cortex
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY
DISORDER; SPECTRUM DISORDERS; MONETARY REWARD; SOCIAL REWARD; SUSTAINED
ATTENTION; RESPONSE-INHIBITION; CONDUCT DISORDER; HUMAN BRAIN; CHILDREN
AB Although attention deficit hyperactivity disorders (ADHD) and autism spectrum disorders (ASD) share certain neurocognitive characteristics, it has been hypothesized to differentiate the two disorders based on their brain's reward responsiveness to either social or monetary reward. Thus, the present fMRI study investigated neural activation in response to both reward types in age and IQ-matched boys with ADHD versus ASD relative to typically controls (TDC). A significant group by reward type interaction effect emerged in the ventral striatum with greater activation to monetary versus social reward only in TDC, whereas subjects with ADHD responded equally strong to both reward types, and subjects with ASD showed low striatal reactivity across both reward conditions. Moreover, disorderspecific neural abnormalities were revealed, including medial prefrontal hyperactivation in response to social reward in ADHD versus ventral striatal hypoactivation in response to monetary reward in ASD. Shared dysfunction was characterized by fronto-striato-parietal hypoactivation in both clinical groups when money was at stake. Interestingly, lower neural activation within parietal circuitry was associated with higher autistic traits across the entire study sample. In sum, the present findings concur with the assumption that both ASD and ADHD display distinct and shared neural dysfunction in response to reward. (C) 2014 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
C1 [Kohls, Gregor; Thoenessen, Heike; Grossheinrich, Nicola; Konrad, Kerstin] Rhein Westfal TH Aachen, Dept Child & Adolescent Psychiat, Child Neuropsychol Sect, D-52074 Aachen, Germany.
[Kohls, Gregor; Fink, Gereon R.; Konrad, Kerstin] Res Ctr, Inst Neurosci & Med, Cognit Neurol Sect, Julich, Germany.
[Bartley, Gregory K.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA.
[Fink, Gereon R.] Univ Hosp Cologne, Dept Neurol, Cologne, Germany.
[Herpertz-Dahlmann, Beate; Konrad, Kerstin] Rhein Westfal TH Aachen, Dept Child & Adolescent Psychiat, D-52074 Aachen, Germany.
RP Kohls, G (reprint author), Rhein Westfal TH Aachen, Dept Child & Adolescent Psychiat, Neuenhofer Weg 21, D-52074 Aachen, Germany.
EM gkohis@ukaachen.de
RI Fink, Gereon/E-1616-2012; Konrad, Kerstin/H-7747-2013
OI Fink, Gereon/0000-0002-8230-1856; Konrad, Kerstin/0000-0001-9039-2615
FU German Research Foundation (Deutsche Forschungsgemeinschaft) [IRTG 1328]
FX This study was supported by the German Research Foundation (Deutsche
Forschungsgemeinschaft, IRTG 1328). We would like to thank all young
volunteers and their families who participated in this study. We are
also grateful to two anonymous reviewers for their helpful comments on
an earlier version of the manuscript.
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NR 84
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1878-9293
EI 1878-9307
J9 DEV COGN NEUROS-NETH
JI Dev. Cogn. Neurosci.
PD OCT
PY 2014
VL 10
BP 104
EP 116
DI 10.1016/j.dcn/2014.08.003
PG 13
WC Neurosciences
SC Neurosciences & Neurology
GA AT4XA
UT WOS:000344944200009
PM 25190643
ER
PT J
AU Pitskel, NB
Bolling, DZ
Kaiser, MD
Pelphrey, KA
Crowley, MJ
AF Pitskel, Naomi B.
Bolling, Danielle Z.
Kaiser, Martha D.
Pelphrey, Kevin A.
Crowley, Michael J.
TI Neural systems for cognitive reappraisal in children and adolescents
with autism spectrum disorder
SO DEVELOPMENTAL COGNITIVE NEUROSCIENCE
LA English
DT Article
DE Autism spectrum disorder; Children and adolescents; Emotion regulation;
Cognitive reappraisal; Functional magnetic resonance imaging; Amygdala
ID HIGH-FUNCTIONING AUTISM; EMOTION REGULATION; BEHAVIORAL THERAPY;
NEGATIVE EMOTION; DISGUST SENSITIVITY; HUMAN BRAIN; VOLUNTARY
SUPPRESSION; FACIAL EXPRESSIONS; ASPERGER-SYNDROME; DOWN-REGULATION
AB Despite substantial clinical and anecdotal evidence for emotion dysregulation in individuals with autism spectrum disorder (ASD), little is known about the neural substrates underlying this phenomenon. We sought to explore neural mechanisms for cognitive reappraisal in children and adolescents with ASD using functional magnetic resonance imaging (fMRI). We studied 16 youth with ASD and 15 age- and IQ-matched typically developing (TD) comparison youth. Participants were instructed in the use of cognitive reappraisal strategies to increase and decrease their emotional responses to disgusting images. Participants in both groups displayed distinct patterns of brain activity for increasing versus decreasing their emotions. TD participants showed downregulation of bilateral insula and left amygdala on decrease trials, whereas ASD participants showed no modulation of insula and upregulation of left amygdala. Furthermore, TD youth exhibited increased functional connectivity between amygdala and ventrolateral prefrontal cortex compared to ASD participants when downregulating disgust, as well as decreased functional connectivity between amygdala and orbitofrontal cortex. These findings have important implications for our understanding of emotion dysregulation and its treatment in ASD. In particular, the relative lack of prefrontalamygdala connectivity provides a potential target for treatment-related outcome measurements. (C) 2014 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY-NC-SA license (http://creativecommons.org/licenses/by-nc-sa/3.0/).
C1 [Pitskel, Naomi B.; Bolling, Danielle Z.; Kaiser, Martha D.; Pelphrey, Kevin A.; Crowley, Michael J.] Yale Univ, Sch Med, Yale Child Study Ctr, Yale Ctr Translat Dev Neurosci, New Haven, CT 06510 USA.
RP Pitskel, NB (reprint author), Yale Univ, Sch Med, Yale Child Study Ctr, Yale Ctr Translat Dev Neurosci, 230 South Frontage Rd, New Haven, CT 06510 USA.
EM Naomi.Pliskel@yale.edu; Michael.Crowley@yale.edu
FU National Institute of Mental Health [MH071284, K01DA034125]; John Merck
Scholars Fund; Simons Foundation; Harris Professorship; Doris Duke
Charitable Foundation
FX This work was supported by grants from the National Institute of Mental
Health [grant number MH071284 to K.A.P.; K01DA034125 to M.J.C.]; the
John Merck Scholars Fund; the Simons Foundation [Individual Grant:
Longitudinal Neurogenetics of Atypical Social Brain Development in
Autism]; a Harris Professorship to K.A.P, and the Doris Duke Charitable
Foundation [to Yale University to support N.B.P.].
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NR 100
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1878-9293
EI 1878-9307
J9 DEV COGN NEUROS-NETH
JI Dev. Cogn. Neurosci.
PD OCT
PY 2014
VL 10
BP 117
EP 128
DI 10.1016/j.dcn.2014.08.007
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AT4XA
UT WOS:000344944200010
PM 25198094
ER
PT J
AU Cheng, YW
Chen, CY
Decety, J
AF Cheng, Yawei
Chen, Chenyi
Decety, Jean
TI An EEG/ERP investigation of the development of empathy in early and
middle childhood
SO DEVELOPMENTAL COGNITIVE NEUROSCIENCE
LA English
DT Article
DE Childhood; Development; Empathy; EEG; ERP; Mu suppression
ID AUTISM SPECTRUM DISORDERS; ELECTROCORTICAL REACTIVITY; UNDERLYING
EMPATHY; EMOTION REGULATION; MORAL SENSITIVITY; BRAIN RESPONSES;
YOUNG-CHILDREN; PAIN; OTHERS; ADOLESCENCE
AB Empathic arousal is the first ontogenetic building block of empathy to appear during infancy and early childhood. As development progresses, empathic arousal becomes associated with an increasing ability to differentiate between self and other, which is a critical aspect of mature empathetic ability (Decety and Jackson, 2004). This allows for better regulation of contagious distress and understanding others mental states. In the current study, we recorded electroencephalographic event-related potentials and mu suppression induced by short visual animations that depicted painful situations in 57 typically developing children aged between 3 and 9 years as well as 15 young adults. Results indicate that the difference wave of an early automatic component (N200), indexing empathic arousal, showed an agerelated decrease in amplitude. In contrast, the difference wave of late-positive potentials (LPP), associated with cognitive appraisal, showed an age-related gain. Only early LPP was detected in children, whereas both early and late LPP were observed in adults. Furthermore, as compared with adults, children showed stronger mu suppression when viewing both painful and non-painful stimuli. These findings provide neurophysiological support for the development of empathy during childhood, as indicated by a gradual decrease in emotional arousal and an increase in cognitive appraisal with age. (C) 2014 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY-NC-ND license (http://ceativecommons.org/licenses/by-nc-nd/3.0/).
C1 [Cheng, Yawei; Chen, Chenyi] Natl Yang Ming Univ, Inst Neurosci, Taipei 112, Taiwan.
[Cheng, Yawei; Chen, Chenyi] Natl Yang Ming Univ, Brain Res Ctr, Taipei 112, Taiwan.
[Cheng, Yawei] Natl Yang Ming Univ, Dept Rehabil, Yilan, Taiwan.
[Decety, Jean] Univ Chicago, Dept Psychol, Chicago, IL 60637 USA.
[Decety, Jean] Univ Chicago, Dept Psychiat & Behav Neurosci, Chicago, IL 60637 USA.
RP Cheng, YW (reprint author), Natl Yang Ming Univ, Inst Neurosci, 155 Sec 2,St Linong, Taipei 112, Taiwan.
EM ywcheng2@ym.edu.tw
FU Ministry of Science and Technology [MOST 103-2401-H-010-003-MY3];
National Yang-Ming University Hospital [RD2014-003]; Health Department
of Taipei City Government [10301-62-009]; Ministry of Education (Aim for
the Top University Plan) [103AC-B4]; John Templeton Foundation (The
Science of Philanthropy Initiative); John Templeton Foundation (Wisdom
Research at the University of Chicago)
FX We would like to thank Chia-Chen Li for helping the data collection.
Jason M. Cowell and Keith Yoder provided helpful comments on the
manuscript. The study was funded by the Ministry of Science and
Technology (MOST 103-2401-H-010-003-MY3), National Yang-Ming University
Hospital (RD2014-003), Health Department of Taipei City Government
(10301-62-009), and Ministry of Education (Aim for the Top University
Plan) (103AC-B4). Dr. Jean Decety was supported by grants from the John
Templeton Foundation (The Science of Philanthropy Initiative and Wisdom
Research at the University of Chicago).
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PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1878-9293
EI 1878-9307
J9 DEV COGN NEUROS-NETH
JI Dev. Cogn. Neurosci.
PD OCT
PY 2014
VL 10
BP 160
EP 169
DI 10.1016/j.dcn.2014.08.012
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AT4XA
UT WOS:000344944200014
PM 25261920
ER
PT J
AU Lagunju, IA
Bella-Awusah, TT
Omigbodun, OO
AF Lagunju, I. A.
Bella-Awusah, T. T.
Omigbodun, O. O.
TI Autistic disorder in Nigeria: Profile and challenges to management
SO EPILEPSY & BEHAVIOR
LA English
DT Article
DE Autistic; disorder; Children; Nigeria; Comorbidities; Epilepsy
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; PREVALENCE;
CHILDREN; EPILEPSY; DISABILITY; DIAGNOSIS; INCREASE; SWEDEN; SCREEN
AB Autism represents one of the most common developmental disorders affecting children, but there are few reports on autism in African children. Our study describes the profile of autistic disorder in a cohort of Nigerian children and appraises short-term outcomes. Children seen at the pediatric neurology and the child psychiatry clinic of the University College Hospital, Nigeria were screened for autistic disorder using the American Psychiatric Association's Diagnostic and Statistical Manual IV. Forty-five males and 9 females were identified with autism, and the disease accounted for 2.3% of 2320 new cases seen during the period. The mean age at which parents observed deviations in behavior was 22.5 (SD = 6.6) months, while the mean age at diagnosis was 44.7 (SD = 21.2) months. Twelve (22.6%) children had a positive family history of autism, and forty (75.5%) had associated neurological comorbidities. Diagnosis of autismis often delayed in Nigeria, and affected children have a high frequency of neurological comorbidities. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Lagunju, I. A.] Univ Ibadan, Coll Med, Dept Paediat, Ibadan, Nigeria.
[Bella-Awusah, T. T.; Omigbodun, O. O.] Univ Ibadan, Coll Med, Dept Child & Adolescent Psychiat, Ibadan, Nigeria.
[Lagunju, I. A.] Univ Coll Hosp, Dept Paediat, Ibadan, Nigeria.
[Bella-Awusah, T. T.; Omigbodun, O. O.] Univ Coll Hosp, Dept Child & Adolescent Psychiat, Ibadan, Nigeria.
RP Lagunju, IA (reprint author), Univ Coll Hosp, Dept Paediat, Ibadan, Nigeria.
EM ilagunju@yahoo.co.uk
FU resident doctors in the Paediatric Neurology Unit; Department of Child
and Adolescent Psychiatry, University College Hospital
FX The authors acknowledge the support of the resident doctors in the
Paediatric Neurology Unit and the Department of Child and Adolescent
Psychiatry, University College Hospital. The efforts of Mr. Olukolade,
clinical psychologist, are acknowledged.
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 32
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
EI 1525-5069
J9 EPILEPSY BEHAV
JI Epilepsy Behav.
PD OCT
PY 2014
VL 39
BP 126
EP 129
DI 10.1016/j.yebeh.2014.08.020
PG 4
WC Behavioral Sciences; Clinical Neurology; Psychiatry
SC Behavioral Sciences; Neurosciences & Neurology; Psychiatry
GA AT9FM
UT WOS:000345233400024
PM 25240124
ER
PT J
AU Giovagnoli, AR
AF Giovagnoli, Anna Rita
TI The importance of theory of mind in epilepsy
SO EPILEPSY & BEHAVIOR
LA English
DT Review
DE Theory of mind; Epilepsy; Medial temporal lobe; Frontal lobe; Behavior;
Personality; Self-appraisal
ID TEMPORAL-LOBE EPILEPSY; HIGH-FUNCTIONING AUTISM; SOCIAL COGNITION;
INTERICTAL BEHAVIOR; ASPERGER-SYNDROME; EMOTION RECOGNITION; SPECTRUM
DISORDERS; ACQUIRED THEORY; FRONTAL LOBES; CHILDS THEORY
AB Recent studies have shown that frontal and temporal lobe epilepsy, the most common forms of focal epilepsy, may impair theory of mind (ToM) by impacting on key zones of ToM's underlying neural network. Clinical research has characterized the severity and specificity of ToM impairments, as well as model methods of assessment, thereby extending the potential of ToM to expand the scope of the neuropsychology of epilepsy. Theory of mind deficits have been linked to self-rating and coping styles, suggesting a role for ToM in awareness and subjective well-being. The study of ToM in epilepsy is important not only for advancing understanding of its underlying neural network but also for clinical care. A task for the future is to identify patients with and without impaired ToM and the subsequent associations with personality complications and vulnerability to psychiatric comorbidities. Knowledge of the type and direction of the relationship between ToM, personality, and behavior might contribute to characterizing the neurobehavioral consequences of specific epilepsy syndromes as well as planning nonpharmacological treatments for alleviating psychobehavioral distress and social maladjustment. (C) 2014 Elsevier Inc. All rights reserved.
C1 Fdn IRCCS Ist Neurol C Besta, Dept Diagnost & Appl Technol, I-20133 Milan, Italy.
RP Giovagnoli, AR (reprint author), Fdn IRCCS Ist Neurol C Besta, Dept Diagnost & Appl Technol, Via Celoria 11, I-20133 Milan, Italy.
EM rgiovagnoli@istituto-besta.it
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NR 63
TC 1
Z9 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1525-5050
EI 1525-5069
J9 EPILEPSY BEHAV
JI Epilepsy Behav.
PD OCT
PY 2014
VL 39
BP 145
EP 153
DI 10.1016/j.yebeh.2014.05.021
PG 9
WC Behavioral Sciences; Clinical Neurology; Psychiatry
SC Behavioral Sciences; Neurosciences & Neurology; Psychiatry
GA AT9FM
UT WOS:000345233400029
PM 24970620
ER
PT J
AU Goldman, D
Domschke, K
AF Goldman, D.
Domschke, K.
TI Making sense of deep sequencing
SO INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY
LA English
DT Article
DE ChipSeq; exome; methylome; next-generation sequencing; RNASeq
ID AUTISM SPECTRUM DISORDERS; GENETIC-VARIATION; NOVO MUTATIONS;
SCHIZOPHRENIA; GENOME
AB This review, the first of an occasional series, tries to make sense of the concepts and uses of deep sequencing of polynucleic acids (DNA and RNA). Deep sequencing, synonymous with next-generation sequencing, high-throughput sequencing and massively parallel sequencing, includes whole genome sequencing but is more often and diversely applied to specific parts of the genome captured in different ways, for example the highly expressed portion of the genome known as the exome and portions of the genome that are epigenetically marked either by DNA methylation, the binding of proteins including histones, or that are in different configurations and thus more or less accessible to enzymes that cleave DNA. Deep sequencing of RNA (RNASeq) reverse-transcribed to complementary DNA is invaluable for measuring RNA expression and detecting changes in RNA structure. Important concepts in deep sequencing include the length and depth of sequence reads, mapping and assembly of reads, sequencing error, haplotypes, and the propensity of deep sequencing, as with other types of 'big data', to generate large numbers of errors, requiring monitoring for methodologic biases and strategies for replication and validation. Deep sequencing yields a unique genetic fingerprint that can be used to identify a person, and a trove of predictors of genetic medical diseases. Deep sequencing to identify epigenetic events including changes in DNA methylation and RNA expression can reveal the history and impact of environmental exposures. Because of the power of sequencing to identify and deliver biomedically significant information about a person and their blood relatives, it creates ethical dilemmas and practical challenges in research and clinical care, for example the decision and procedures to report incidental findings that will increasingly and frequently be discovered.
C1 [Goldman, D.] NIAAA, Neurogenet Lab, NIH, Rockville, MD 20852 USA.
[Domschke, K.] Univ Wurzburg, Dept Psychiat, D-97080 Wurzburg, Germany.
RP Domschke, K (reprint author), Univ Wurzburg, Dept Psychiat, Fuechsleinstr 15, D-97080 Wurzburg, Germany.
EM Domschke_K@ukw.de
FU Deutsche Forschungsgemeinschaft (DFG) [SFB-TRR-58]
FX The present work was supported by the Deutsche Forschungsgemeinschaft
(DFG), SFB-TRR-58, project C02 (to KD).
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NR 20
TC 3
Z9 3
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 1461-1457
EI 1469-5111
J9 INT J NEUROPSYCHOPH
JI Int. J. Neuropsychopharmacol.
PD OCT
PY 2014
VL 17
IS 10
BP 1717
EP 1725
DI 10.1017/S1461145714000789
PG 9
WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AT5TL
UT WOS:000345004900019
PM 24925306
ER
PT J
AU Sakuta, Y
Sato, K
Kanazawa, S
Yamaguchi, MK
AF Sakuta, Yuiko
Sato, Kazuki
Kanazawa, So
Yamaguchi, Masami K.
TI The effect of eye size on discriminating faces: Can infants recognize
facial uncanniness?
SO JAPANESE PSYCHOLOGICAL RESEARCH
LA English
DT Article
DE face recognition; familiarization-novelty preference; perceptual
narrowing; uncanny valley
ID ASPERGER-SYNDROME; NORMAL ADULTS; ADAPTATION; AUTISM; ATTRACTIVENESS;
LOOKING; BEAUTY; GAZE; MIND
AB Infants' ability to recognize uncanny human faces increases during the first year of life. In turn, their ability to recognize faces of other species declines at almost the same period (perceptual narrowing). In the current study, we aimed to clarify the relationship between the perception of uncanniness of faces and perceptual narrowing in infants and adults. We used the "uncanny valley task," in which the participants were required to discriminate the faces of humans and monkeys by different eye size. Results showed that 3- to 5-month-old infants could not discriminate either monkey or human faces by eye size, whereas 6- to 8-month olds could. Adults showed higher discrimination performance for human than monkey faces and perceived the human faces with extremely large or small eyes as exceedingly eerie. Our results suggest that perception of uncanniness of faces is formed after perceptual narrowing.
C1 [Sakuta, Yuiko; Sato, Kazuki; Yamaguchi, Masami K.] Chuo Univ, Higashi Nakano, Hachiouji 1920393, Japan.
[Kanazawa, So] Japan Womens Univ, Tokyo, Japan.
RP Sakuta, Y (reprint author), Chuo Univ, Dept Psychol, Higashi Nakano, Hachiouji 1920393, Japan.
EM y-sakuta@tamacc.chuo-u.ac.jp
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NR 21
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-5368
EI 1468-5884
J9 JPN PSYCHOL RES
JI Jpn. Psychol. Res.
PD OCT
PY 2014
VL 56
IS 4
BP 331
EP 339
DI 10.1111/jpr.12057
PG 9
WC Psychology, Multidisciplinary
SC Psychology
GA AT9OP
UT WOS:000345256700004
ER
PT J
AU Caracciolo, M
AF Caracciolo, Marco
TI Two child narrators: Defamiliarization, empathy, and reader-response in
Mark Haddon's The Curious Incident and Emma Donoghue's Room
SO SEMIOTICA
LA English
DT Article
DE narrative; empathy; identification; defamiliarization; autism; humor
ID HUMOR; MINDS
AB Drawing on a corpus of online reviews, my article carries out a qualitative study of readers' responses to the child narrators of two contemporary - novels, Mark Haddon's The Curious Incident of the Dog in the Night-Time (2003) and Emma Donoghue's Room (2010). What these narrators have in common is that they are both are affected by developmental disorders: Christopher, the protagonist of The Curious Incident, is on the autistic spectrum, whereas Jack - the five-year-old narrator of Room - was born and brought up in captivity. Through my analysis of the reviews I explore the interplay of defamiliarization and empathy in readers' engagement with these "strange" narrators; I also show how empathetic perspective-taking can work in tandem with sympathy (feeling for a character from an observer position).
C1 Univ Groningen, NL-9700 AB Groningen, Netherlands.
RP Caracciolo, M (reprint author), Univ Groningen, NL-9700 AB Groningen, Netherlands.
EM m.caracciolo@rug.nl
CR A Customer, 2003, TREMENDOUS INSIGHT M
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NR 55
TC 0
Z9 0
PU WALTER DE GRUYTER GMBH
PI BERLIN
PA GENTHINER STRASSE 13, D-10785 BERLIN, GERMANY
SN 0037-1998
EI 1613-3692
J9 SEMIOTICA
JI Semiotica
PD OCT
PY 2014
VL 202
BP 183
EP 205
DI 10.1515/sem-2014-0050
PG 23
WC Humanities, Multidisciplinary
SC Arts & Humanities - Other Topics
GA AT8GN
UT WOS:000345172000008
ER
PT J
AU de Villiers, JG
de Villiers, PA
AF de Villiers, Jill G.
de Villiers, Peter A.
TI The Role of Language in Theory of Mind Development
SO TOPICS IN LANGUAGE DISORDERS
LA English
DT Article
DE conversation; false beliefs; false complements; language; narrative;
theory of mind
ID FALSE-BELIEF; JOINT ATTENTION; SPEAKING CHILDREN; 2ND-ORDER BELIEFS;
THOUGHT-BUBBLES; EXPLICIT THEORY; DEAF-CHILDREN; MENTAL STATES; AUTISM;
IMPLICIT
AB Various arguments are reviewed about the claim that language development is critically connected to the development of theory of mind. The different theories of how language could help in this process of development are explored. A brief account is provided of the controversy over the capacities of infants to read others' false beliefs. Then the empirical literature on the steps in theory of mind development is summarized, considering studies on both typically developing and various language-delayed children. Suggestions are made for intervention by speech language pathologists to enhance the child's access to understanding the minds of others.
C1 [de Villiers, Jill G.; de Villiers, Peter A.] Smith Coll, Northampton, MA 01063 USA.
RP de Villiers, JG (reprint author), Smith Coll, Coll Lane, Northampton, MA 01063 USA.
EM jdevilli@smith.edu
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NR 91
TC 2
Z9 2
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0271-8294
EI 1550-3259
J9 TOP LANG DISORD
JI Top. Lang. Disord.
PD OCT-DEC
PY 2014
VL 34
IS 4
BP 313
EP 328
DI 10.1097/TLD.0000000000000037
PG 16
WC Linguistics; Rehabilitation
SC Linguistics; Rehabilitation
GA AT6CZ
UT WOS:000345027900005
ER
PT J
AU Kimhi, Y
AF Kimhi, Yael
TI Theory of Mind Abilities and Deficits in Autism Spectrum Disorders
SO TOPICS IN LANGUAGE DISORDERS
LA English
DT Article
DE ASD; executive function; intervention; social cognition; theory of mind
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; EXECUTIVE FUNCTION;
INDIVIDUAL-DIFFERENCES; DEVELOPING-CHILDREN; TYPICAL DEVELOPMENT;
PERSPECTIVE-TAKING; CENTRAL COHERENCE; ADULTS; LANGUAGE
AB Autism spectrum disorder (ASD) is a neurobiological disorder that significantly impairs children's social interaction, verbal and nonverbal communication, and behaviors. Questions about theory of mind (ToM) deficits in ASD have generated a large number of empirical studies. This article reviews current studies of the relationship between ToM and ASD, including contributions to the understanding of social and academic manifestations of ASD. Several themes emerge: Enhanced language and verbal abilities facilitate better ToM understanding; implicit ToM elements that incorporate parallel processing pose more difficulties than explicit ones; and general and multimodal interventions are more effective than specific interventions. A brief overview is followed by a review of emerging research on the role of domain-general cognitive skills (executive function) and central coherence in the development of ToM. Next, a summary of studies addressing ToM across the development and social and academic manifestations is presented. The article ends with a critical review of ToM intervention studies, which suggests that generalization may be more likely to occur when ToM is targeted as part of broader sociocognitive interventions rather than as an isolated skill.
C1 [Kimhi, Yael] Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel.
[Kimhi, Yael] Levinsky Coll Educ, Tel Aviv, Israel.
RP Kimhi, Y (reprint author), Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel.
EM yael.kimhi@biu.ac.il
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NR 75
TC 4
Z9 4
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0271-8294
EI 1550-3259
J9 TOP LANG DISORD
JI Top. Lang. Disord.
PD OCT-DEC
PY 2014
VL 34
IS 4
BP 329
EP 343
DI 10.1097/TLD.0000000000000033
PG 15
WC Linguistics; Rehabilitation
SC Linguistics; Rehabilitation
GA AT6CZ
UT WOS:000345027900006
ER
PT J
AU Westby, C
Robinson, L
AF Westby, Carol
Robinson, Lee
TI A Developmental Perspective for Promoting Theory of Mind
SO TOPICS IN LANGUAGE DISORDERS
LA English
DT Article
DE intersubjectivity; intervention; joint attention; mental state
vocabulary; metacognition; self-regulation; sentential complements;
theory of mind
ID MOTHER-CHILD DISCOURSE; JOINT ATTENTION; AUTISM SPECTRUM;
AUTOBIOGRAPHICAL MEMORY; LANGUAGE IMPAIRMENT; TEACHING THEORY;
YOUNG-CHILDREN; PRETEND PLAY; EMPATHY; INTERVENTION
AB Social neuroscience research has resulted in changing views of the theory of mind (ToM) construct. Theory of mind is no longer viewed as a unitary construct, but rather as a multidimensional construct comprising cognitive and affective ToM and interpersonal and intrapersonal ToM, each of which has differing neurophysiological/neuroanatomical foundations and behavioral manifestations. Clinicians working with persons with social communication/pragmatic communication disorders should consider evaluating these dimensions of ToM and the cognitive, social-emotional, and language components underlying them. Then they might use this information to develop a ToM profile for each client so they are better able to implement specific intervention strategies to target the linguistic and cognitive/affective foundations for ToM development. In this article, we describe the characteristics of developmental stages of affective and cognitive and interpersonal and intrapersonal ToM and how to match intervention goals and strategies to those stages. Some activities and strategies have empirical support; others are based on what is known about typical development and patterns of impairment.
C1 [Westby, Carol] Bilingual Multicultural Serv, Albuquerque, NM USA.
[Westby, Carol; Robinson, Lee] Brigham Young Univ, Provo, UT 84602 USA.
RP Westby, C (reprint author), CCC SLP, 1808 Princeton NE, Albuquerque, NM 87106 USA.
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NR 80
TC 5
Z9 5
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0271-8294
EI 1550-3259
J9 TOP LANG DISORD
JI Top. Lang. Disord.
PD OCT-DEC
PY 2014
VL 34
IS 4
BP 362
EP 382
DI 10.1097/TLD.0000000000000035
PG 21
WC Linguistics; Rehabilitation
SC Linguistics; Rehabilitation
GA AT6CZ
UT WOS:000345027900008
ER
PT J
AU Liu, ZG
Liu, MH
Mercado, T
Illoh, O
Davey, R
AF Liu, Zhugong
Liu, Meihong
Mercado, Teresita
Illoh, Orieji
Davey, Richard
TI Extended Blood Group Molecular Typing and Next-Generation Sequencing
SO TRANSFUSION MEDICINE REVIEWS
LA English
DT Review
DE Blood group genotyping; Molecular assay; Target enrichment; Next
generation sequencing; Blood group phenotype
ID SICKLE-CELL-DISEASE; DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS;
LONG-RANGE PCR; HIGH-THROUGHPUT; INTERNATIONAL WORKSHOP;
HIGH-RESOLUTION; GROUP SYSTEM; LARGE-SCALE; MICROARRAY HYBRIDIZATION
AB Several high-throughput multiplex blood group molecular typing platforms have been developed to predict blood group antigen phenotypes. These molecular systems support extended donor/patient matching by detecting commonly encountered blood group polymorphisms as well as rare alleles that determine the expression of blood group antigens. Extended molecular typing of a large number of blood donors by high-throughput platforms can increase the likelihood of identifying donor red blood cells that match those of recipients. This is especially important in the management of multiply-transfused patients who may have developed several alloantibodies. Nevertheless, current molecular techniques have limitations. For example, they detect only predefined genetic variants. In contrast, target enrichment next-generation sequencing (NGS) is an emerging technology that provides comprehensive sequence information, focusing on specified genomic regions. Target enrichment NGS is able to assess genetic variations that cannot be achieved by traditional Sanger sequencing or other genotyping platforms. Target enrichment NGS has been used to detect both known and de novo genetic polymorphisms, including single-nucleotide polymorphisms, indels (insertions/deletions), and structural variations. This review discusses the methodology, advantages, and limitations of the current blood group genotyping techniques and describes various target enrichment NGS approaches that can be used to develop an extended blood group genotyping assay system. Published by Elsevier Inc.
C1 [Liu, Zhugong; Liu, Meihong; Mercado, Teresita; Illoh, Orieji; Davey, Richard] US FDA, Ctr Biol Evaluat & Res, Off Blood Res & Review, Div Blood Components & Devices, Silver Spring, MD USA.
RP Liu, ZG (reprint author), 10903 New Hampshire Ave,WO71-4222, Silver Spring, MD 20993 USA.
EM zhugong.liu@fda.hhs.gov
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NR 118
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 0887-7963
EI 1532-9496
J9 TRANSFUS MED REV
JI Transf. Med. Rev.
PD OCT
PY 2014
VL 28
IS 4
BP 177
EP 186
DI 10.1016/j.tmrv.2014.08.003
PG 10
WC Hematology
SC Hematology
GA AT6OS
UT WOS:000345059300001
PM 25280589
ER
PT J
AU Tong, HHY
Man, KKC
Chan, EW
Wong, LYL
Wong, ICK
AF Tong, H. H. Y.
Man, K. K. C.
Chan, E. W.
Wong, L. Y. L.
Wong, I. C. K.
TI Selective Serotonin Reuptake Inhibitor Exposure during Pregnancy and
Risk of Autism Spectrum Disorders in Children: A Meta-Analysis of
Observational Studies
SO DRUG SAFETY
LA English
DT Meeting Abstract
CT 14th ISoP Annual Meeting on New Ideas in Ancient Cultures - Advancing
Pharmacovigilance in Asia
CY OCT 19-22, 2014
CL Tianjin, PEOPLES R CHINA
SP ISoP
C1 [Tong, H. H. Y.] Macao Polytech Inst, Macao, Peoples R China.
[Man, K. K. C.; Chan, E. W.; Wong, L. Y. L.; Wong, I. C. K.] Univ Hong Kong, Hong Kong, Hong Kong, Peoples R China.
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Myles N, 2013, AUST NZ J PSYCHIAT, V47, P1002, DOI 10.1177/0004867413492219
NR 5
TC 0
Z9 0
PU ADIS INT LTD
PI NORTHCOTE
PA 5 THE WAREHOUSE WAY, NORTHCOTE 0627, AUCKLAND, NEW ZEALAND
SN 0114-5916
EI 1179-1942
J9 DRUG SAFETY
JI Drug Saf.
PD OCT
PY 2014
VL 37
IS 10
MA P-006
BP 836
EP 836
PG 1
WC Public, Environmental & Occupational Health; Pharmacology & Pharmacy;
Toxicology
SC Public, Environmental & Occupational Health; Pharmacology & Pharmacy;
Toxicology
GA AT0GO
UT WOS:000344615300015
ER
PT J
AU Hamdan, FF
Srour, M
Capo-Chichi, JM
Daoud, H
Nassif, C
Patry, L
Massicotte, C
Ambalavanan, A
Spiegelman, D
Diallo, O
Henrion, E
Dionne-Laporte, A
Fougerat, A
Pshezhetsky, AV
Venkateswaran, S
Rouleau, GA
Michaud, JL
AF Hamdan, Fadi F.
Srour, Myriam
Capo-Chichi, Jose-Mario
Daoud, Hussein
Nassif, Christina
Patry, Lysanne
Massicotte, Christine
Ambalavanan, Amirthagowri
Spiegelman, Dan
Diallo, Ousmane
Henrion, Edouard
Dionne-Laporte, Alexandre
Fougerat, Anne
Pshezhetsky, Alexey V.
Venkateswaran, Sunita
Rouleau, Guy A.
Michaud, Jacques L.
TI De Novo Mutations in Moderate or Severe Intellectual Disability
SO PLOS GENETICS
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; SCHINZEL-GIEDION SYNDROME; EARLY GENE ZIF268;
MENTAL-RETARDATION; EPILEPTIC ENCEPHALOPATHIES; CORPUS-CALLOSUM;
CANDIDATE GENES; ESCRT-III; PROTEIN; HAPLOINSUFFICIENCY
AB Genetics is believed to have an important role in intellectual disability (ID). Recent studies have emphasized the involvement of de novo mutations (DNMs) in ID but the extent to which they contribute to its pathogenesis and the identity of the corresponding genes remain largely unknown. Here, we report a screen for DNMs in subjects with moderate or severe ID. We sequenced the exomes of 41 probands and their parents, and confirmed 81 DNMs affecting the coding sequence or consensus splice sites (1.98 DNMs/proband). We observed a significant excess of de novo single nucleotide substitutions and loss-of-function mutations in these cases compared to control subjects, suggesting that at least a subset of these variations are pathogenic. A total of 12 likely pathogenic DNMs were identified in genes previously associated with ID (ARID1B, CHD2, FOXG1, GABRB3, GATAD2B, GRIN2B, MBD5, MED13L, SETBP1, TBR1, TCF4, WDR45), resulting in a diagnostic yield of similar to 29%. We also identified 12 possibly pathogenic DNMs in genes (HNRNPU, WAC, RYR2, SET, EGR1, MYH10, EIF2C1, COL4A3BP, CHMP2A, PPP1CB, VPS4A, PPP2R2B) that have not previously been causally linked to ID. Interestingly, no case was explained by inherited mutations. Protein network analysis indicated that the products of many of these known and candidate genes interact with each other or with products of other ID-associated genes further supporting their involvement in ID. We conclude that DNMs represent a major cause of moderate or severe ID.
C1 [Hamdan, Fadi F.; Srour, Myriam; Capo-Chichi, Jose-Mario; Nassif, Christina; Patry, Lysanne; Massicotte, Christine; Fougerat, Anne; Pshezhetsky, Alexey V.; Michaud, Jacques L.] CHU St Justine, Res Ctr, Montreal, PQ, Canada.
[Srour, Myriam] Montreal Childrens Hosp, Div Pediat Neurol, Montreal, PQ H3H 1P3, Canada.
[Daoud, Hussein; Ambalavanan, Amirthagowri; Spiegelman, Dan; Diallo, Ousmane; Henrion, Edouard; Dionne-Laporte, Alexandre; Rouleau, Guy A.] McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada.
[Venkateswaran, Sunita] Childrens Hosp Eastern Ontario, Div Neurol, Ottawa, ON K1H 8L1, Canada.
[Michaud, Jacques L.] Univ Montreal, Dept Pediat, Montreal, PQ H3C 3J7, Canada.
[Michaud, Jacques L.] Univ Montreal, Dept Neurosci, Montreal, PQ, Canada.
RP Hamdan, FF (reprint author), CHU St Justine, Res Ctr, Montreal, PQ, Canada.
EM jacques.michaud@recherche-ste-justine.qc.ca
FU Canadian Institutes of Health Research (CIHR); CIHR [FRN 119440]
FX JLM is a National Scientist of the Fonds de Recherche du Quebec - Sante.
MS holds a clinician-scientist award from the Canadian Institutes of
Health Research (CIHR). This study was funded by a grant from CIHR (FRN
119440). The funders had no role in study design, data collection and
analysis, decision to publish, or preparation of the manuscript.
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NR 62
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1553-7390
EI 1553-7404
J9 PLOS GENET
JI PLoS Genet.
PD OCT
PY 2014
VL 10
IS 10
AR e1004772
DI 10.1371/journal.pgen.1004772
PG 9
WC Genetics & Heredity
SC Genetics & Heredity
GA AT0UR
UT WOS:000344650700106
PM 25356899
ER
PT J
AU Baghdadli, A
Loubersac, J
Soussana, M
Rattaz, C
Michelon, C
AF Baghdadli, A.
Loubersac, J.
Soussana, M.
Rattaz, C.
Michelon, C.
TI Implementation of a French cohort of children or adolescents with autism
spectrum disorders: ELENA cohort
SO REVUE D EPIDEMIOLOGIE ET DE SANTE PUBLIQUE
LA French
DT Article
DE Cohort; Multicenter; Autism; Developmental trajectories
ID SAS PROCEDURE; RATING-SCALE
AB Background. - Multidisciplinary cohort studies of children with autism spectrum disorders (ASD) followed from childhood to adulthood exist abroad but not in France. The objective of the ELENA French cohort is to study the developmental trajectories of children and adolescents with ASD and their risk or protective associated factors.
Methods. - This is an open, prospective and multicenter cohort study, including children and adolescents under 16 years of age with ASD recruited from services specialized in the assessment of developmental disorders. The patients will be monitored every 18 months for at least 36 months and during a maximum of 10 years. Clinical, social, environmental, and genetic data, as well as data relating to the parental quality of life will be collected. The primary endpoint will be the adaptive level in three domains of the Vineland II (communication, socialization and daily living skills). The secondary endpoints will be parental quality of life, comorbidities, interventions and severity of ASD.
Expected results and perspectives. - The inclusion of 1600 patients over a 10-year period is expected. This cohort should contribute to a better knowledge of the child developing an ASD, taking into account the physical, social and familial environment, the type of interventions and some genetic components. It should also lay the foundations for a national network of professionals working in the field of autism research by offering them a common tool for promoting translational studies. (C) 2014 Elsevier Masson SAS. All rights reserved.
C1 [Baghdadli, A.; Loubersac, J.; Soussana, M.; Rattaz, C.; Michelon, C.] CHRU Montpellier, Ctr Ressources Autisme, F-34295 Montpellier, France.
[Baghdadli, A.; Loubersac, J.; Soussana, M.; Rattaz, C.; Michelon, C.] Univ Montpellier, EA 4556, Lab Epsylon, F-34000 Montpellier, France.
RP Baghdadli, A (reprint author), CHRU Montpellier, Ctr Ressources Autisme, 39 Ave Charles Flahaut, F-34295 Montpellier, France.
EM rech-clinique-autisme@chu-montpellier.fr
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NR 23
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Z9 0
PU MASSON EDITEUR
PI MOULINEAUX CEDEX 9
PA 21 STREET CAMILLE DESMOULINS, ISSY, 92789 MOULINEAUX CEDEX 9, FRANCE
SN 0398-7620
EI 1773-0627
J9 REV EPIDEMIOL SANTE
JI Rev. Epidemiol. Sante Publique
PD OCT
PY 2014
VL 62
IS 5
BP 297
EP 303
DI 10.1016/j.respe.2014.07.002
PG 7
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AT5RZ
UT WOS:000345000800005
ER
PT J
AU Bowton, E
Saunders, C
Reddy, IA
Campbell, NG
Hamilton, PJ
Henry, LK
Coon, H
Sakrikar, D
Veenstra-VanderWeele, JM
Blakely, RD
Sutcliffe, J
Matthies, HJG
Erreger, K
Galli, A
AF Bowton, E.
Saunders, C.
Reddy, I. A.
Campbell, N. G.
Hamilton, P. J.
Henry, L. K.
Coon, H.
Sakrikar, D.
Veenstra-VanderWeele, J. M.
Blakely, R. D.
Sutcliffe, J.
Matthies, H. J. G.
Erreger, K.
Galli, A.
TI SLC6A3 coding variant Ala559Val found in two autism probands alters
dopamine transporter function and trafficking
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID PROTEIN-KINASE-C; DEFICIT HYPERACTIVITY DISORDER;
ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DE-NOVO MUTATIONS; PERVASIVE
DEVELOPMENTAL DISORDER; INDUCED REVERSE TRANSPORT; COPY-NUMBER
VARIATION; SPECTRUM DISORDERS; DEPENDENT MECHANISM; XENOPUS OOCYTES
AB Emerging evidence associates dysfunction in the dopamine (DA) transporter (DAT) with the pathophysiology of autism spectrum disorder (ASD). The human DAT (hDAT; SLC6A3) rare variant with an Ala to Val substitution at amino acid 559 (hDAT A559V) was previously reported in individuals with bipolar disorder or attention-deficit hyperactivity disorder (ADHD). We have demonstrated that this variant is hyper-phosphorylated at the amino (N)-terminal serine (Ser) residues and promotes an anomalous DA efflux phenotype. Here, we report the novel identification of hDAT A559V in two unrelated ASD subjects and provide the first mechanistic description of its impaired trafficking phenotype. DAT surface expression is dynamically regulated by DAT substrates including the psychostimulant amphetamine (AMPH), which causes hDAT trafficking away from the plasma membrane. The integrity of DAT trafficking directly impacts DA transport capacity and therefore dopaminergic neurotransmission. Here, we show that hDAT A559V is resistant to AMPH-induced cell surface redistribution. This unique trafficking phenotype is conferred by altered protein kinase C beta (PKC beta) activity. Cells expressing hDAT A559V exhibit constitutively elevated PKC beta activity, inhibition of which restores the AMPH-induced hDAT A559V membrane redistribution. Mechanistically, we link the inability of hDAT A559V to traffic in response to AMPH to the phosphorylation of the five most distal DAT N-terminal Ser. Mutation of these N-terminal Ser to Ala restores AMPH-induced trafficking. Furthermore, hDAT A559V has a diminished ability to transport AMPH, and therefore lacks AMPH-induced DA efflux. Pharmacological inhibition of PKC beta or Ser to Ala substitution in the hDAT A559V background restores AMPH-induced DA efflux while promoting intracellular AMPH accumulation. Although hDAT A559V is a rare variant, it has been found in multiple probands with neuropsychiatric disorders associated with imbalances in DA neurotransmission, including ADHD, bipolar disorder, and now ASD. These findings provide valuable insight into a new cellular phenotype (altered hDAT trafficking) supporting dysregulated DA function in these disorders. They also provide a novel potential target (PKC beta) for therapeutic interventions in individuals with ASD.
C1 [Bowton, E.; Reddy, I. A.; Campbell, N. G.; Hamilton, P. J.; Sutcliffe, J.; Matthies, H. J. G.; Erreger, K.; Galli, A.] Vanderbilt Univ, Med Ctr, Dept Mol Physiol, Nashville, TN 37232 USA.
[Bowton, E.; Reddy, I. A.; Campbell, N. G.; Hamilton, P. J.; Sutcliffe, J.; Matthies, H. J. G.; Erreger, K.; Galli, A.] Vanderbilt Univ, Med Ctr, Dept Biophys, Nashville, TN 37232 USA.
[Bowton, E.; Saunders, C.; Reddy, I. A.; Campbell, N. G.; Hamilton, P. J.; Sakrikar, D.; Veenstra-VanderWeele, J. M.; Blakely, R. D.; Sutcliffe, J.; Matthies, H. J. G.; Erreger, K.; Galli, A.] Vanderbilt Univ, Med Ctr, Vanderbilt Brain Inst, Nashville, TN 37232 USA.
[Saunders, C.; Sakrikar, D.; Blakely, R. D.] Vanderbilt Univ, Med Ctr, Dept Pharmacol, Nashville, TN 37232 USA.
[Henry, L. K.] Univ N Dakota, Dept Basic Sci, Grand Forks, ND 58201 USA.
[Coon, H.] Univ Utah, Dept Psychiat, Salt Lake City, UT USA.
[Veenstra-VanderWeele, J. M.; Sutcliffe, J.] Vanderbilt Univ, Med Ctr, Dept Psychiat, Nashville, TN 37232 USA.
[Matthies, H. J. G.; Erreger, K.; Galli, A.] Vanderbilt Univ, Med Ctr, N PISA Neurosci Program Subst Abuse, Nashville, TN 37232 USA.
RP Matthies, HJG (reprint author), Vanderbilt Univ, Med Ctr, Dept Mol Physiol, 465 21st Ave South,MRB3,Room 7124, Nashville, TN 37232 USA.
EM heiner.matthies@vanderbilt.edu; kevin.erreger@vanderbilt.edu;
aurelio.galli@vanderbilt.edu
RI Sutcliffe, James/C-1348-2012
OI Sutcliffe, James/0000-0001-5200-6007
FU NIH [MH095044, DA035263, DA012408, MH094400]
FX This work was supported by NIH MH095044 (RDB), DA035263 (AG), DA012408
(AG), MH094400 (HC).
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NR 95
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 OCT
PY 2014
VL 4
AR e464
DI 10.1038/tp.2014.90
PG 11
WC Psychiatry
SC Psychiatry
GA AT3HT
UT WOS:000344827100008
PM 25313507
ER
PT J
AU James, SJ
Shpyleva, S
Melnyk, S
Pavliv, O
Pogribny, IP
AF James, S. J.
Shpyleva, S.
Melnyk, S.
Pavliv, O.
Pogribny, I. P.
TI Elevated 5-hydroxymethylcytosine in the Engrailed-2 (EN-2) promoter is
associated with increased gene expression and decreased MeCP2 binding in
autism cerebellum
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID EMBRYONIC STEM-CELLS; OXIDATIVE STRESS; DNA METHYLATION; RETT-SYNDROME;
SPECTRUM DISORDER; NERVOUS-SYSTEM; PURKINJE-CELLS; HOMEOBOX GENE; BRAIN;
5-METHYLCYTOSINE
AB Epigenetic mechanisms regulate programmed gene expression during prenatal neurogenesis and serve as a mediator between genetics and environment in postnatal life. The recent discovery of 5-hydroxymethylcytosine (5-hmC), with highest concentration in the brain, has added a new dimension to epigenetic regulation of neurogenesis and the development of complex behavior disorders. Here, we take a candidate gene approach to define the role 5-hmC in Engrailed-2 (EN-2) gene expression in the autism cerebellum. The EN-2 homeobox transcription factor, previously implicated in autism, is essential for normal cerebellar patterning and development. We previously reported EN-2 overexpression associated with promoter DNA hypermethylation in the autism cerebellum but because traditional DNA methylation methodology cannot distinguish 5-methylcytosine (5-mC) from 5-hmC, we now extend our investigation by quantifying global and gene-specific 5-mC and 5-hmC. Globally, 5-hmC was significantly increased in the autism cerebellum and accompanied by increases in the expression of de novo methyltransferases DNMT3A and DNMT3B, ten-eleven translocase genes TET1 and TET3, and in 8-oxo-deoxyguanosine (8-oxo-dG) content, a marker of oxidative DNA damage. Within the EN-2 promoter, there was a significant positive correlation between 5-hmC content and EN-2 gene expression. Based on reports of reduced MeCP2 affinity for 5-hmC, MeCP2 binding studies in the EN-2 promoter revealed a significant decrease in repressive MeCP2 binding that may contribute to the aberrant overexpression of EN-2. Because normal cerebellar development depends on perinatal EN-2 downregulation, the sustained postnatal overexpression suggests that a critical window of cerebellar development may have been missed in some individuals with autism with downstream developmental consequences. Epigenetic regulation of the programmed on-off switches in gene expression that occur at birth and during early brain development warrants further investigation
C1 [James, S. J.; Shpyleva, S.; Melnyk, S.; Pavliv, O.] Univ Arkansas Med Sci, Arkansas Childrens Hosp, Res Inst, Dept Pediat, Little Rock, AR 72202 USA.
[Pogribny, I. P.] Natl Ctr Toxicol Res, Div Biochem Toxicol, Jefferson, AR 72079 USA.
RP James, SJ (reprint author), Univ Arkansas Med Sci, Arkansas Childrens Hosp, Res Inst, Dept Pediat, 13 Childrens Way,Slot 512-41B, Little Rock, AR 72202 USA.
EM jamesjill@uams.edu
FU National Institute of Child Health and Development [1RO1HD051873]; Jane
Botsford Johnson Foundation; Arkansas Biosciences Institute
FX We thank the families of individuals with autism for the thoughtful
donation of postmortem tissues to the Autism Tissue Program at the
Harvard Brain Tissue Resource Center and the National Institute of Child
Health and Development Brain and Tissue Bank for Developmental Disorders
at the University of Maryland. This study was funded by the National
Institute of Child Health and Development (1RO1HD051873 to SJJ) and the
Jane Botsford Johnson Foundation and Arkansas Biosciences Institute.
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NR 54
TC 4
Z9 4
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD OCT
PY 2014
VL 4
AR e460
DI 10.1038/tp.2014.87
PG 9
WC Psychiatry
SC Psychiatry
GA AT3HT
UT WOS:000344827100005
PM 25290267
ER
PT J
AU Kim, Y
Xia, K
Tao, R
Giusti-Rodriguez, P
Vladimirov, V
van den Oord, E
Sullivan, PF
AF Kim, Y.
Xia, K.
Tao, R.
Giusti-Rodriguez, P.
Vladimirov, V.
van den Oord, E.
Sullivan, P. F.
TI A meta-analysis of gene expression quantitative trait loci in brain
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID GENOME-WIDE ASSOCIATION; RECESSIVE INTELLECTUAL DISABILITY; AUTISM
SPECTRUM DISORDERS; HUMAN PREFRONTAL CORTEX; COPY NUMBER VARIATION;
PSYCHIATRIC-DISORDERS; MITOCHONDRIAL DYSFUNCTION; BIPOLAR DISORDER; RISK
LOCI; DE-NOVO
AB Current catalogs of brain expression quantitative trait loci (eQTL) are incomplete and the findings do not replicate well across studies. All existing cortical eQTL studies are small and emphasize the need for a meta-analysis. We performed a meta-analysis of 424 brain samples across five studies to identify regulatory variants influencing gene expression in human cortex. We identified 3584 genes in autosomes and chromosome X with false discovery rate q < 0.05 whose expression was significantly associated with DNA sequence variation. Consistent with previous eQTL studies, local regulatory variants tended to occur symmetrically around transcription start sites and the effect was more evident in studies with large sample sizes. In contrast to random SNPs, we observed that significant eQTLs were more likely to be near 5'-untranslated regions and intersect with regulatory features. Permutation-based enrichment analysis revealed that SNPs associated with schizophrenia and bipolar disorder were enriched among brain eQTLs. Genes with significant eQTL evidence were also strongly associated with diseases from OMIM (Online Mendelian Inheritance in Man) and the NHGRI (National Human Genome Research Institute) genome-wide association study catalog. Surprisingly, we found that a large proportion (28%) of similar to 1000 autosomal genes encoding proteins needed for mitochondrial structure or function were eQTLs (enrichment P-value = 1.3 x 10(-9)), suggesting a potential role for common genetic variation influencing the robustness of energy supply in brain and a possible role in the etiology of some psychiatric disorders. These systematically generated eQTL information should be a valuable resource in determining the functional mechanisms of brain gene expression and the underlying biology of associations with psychiatric disorders.
C1 [Kim, Y.; Giusti-Rodriguez, P.; Sullivan, P. F.] Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA.
[Xia, K.; Sullivan, P. F.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA.
[Tao, R.] Univ N Carolina, Dept Biostat, Chapel Hill, NC 27599 USA.
[Vladimirov, V.] Virginia Commonwealth Univ, Dept Psychiat, Richmond, VA USA.
[Vladimirov, V.] Johns Hopkins Univ, Lieber Inst Brain Dev, Baltimore, MD USA.
[van den Oord, E.] Virginia Commonwealth Univ, Ctr Biomarker Res & Personalized Med, Richmond, VA USA.
[Sullivan, P. F.] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
RP Kim, Y (reprint author), Univ N Carolina, Dept Genet, CB 7264,5097 Genom Med, Chapel Hill, NC 27599 USA.
EM yunjungk@email.unc.edu
FU US National Institutes of Health; Stanley Medical Research Institute
[08R-1959]; National Institute of Mental Health [R01MH097283]
FX We thank Duan Qing and Nun Li for the help and support for genotype
imputation using MaCH-Admix. We also thank Wei Sun for the help in eQTL
analysis. Funding for this project was from the US National Institutes
of Health who had no role in the design, execution, analysis and
manuscript preparation. This work was funded by grant #08R-1959 (VV)
from the Stanley Medical Research Institute and by grant #R01MH097283
(EvdO) from the National Institute of Mental Health.
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NR 101
TC 1
Z9 1
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD OCT
PY 2014
VL 4
AR e459
DI 10.1038/tp.2014.96
PG 10
WC Psychiatry
SC Psychiatry
GA AT3HT
UT WOS:000344827100004
PM 25290266
ER
PT J
AU Tsilioni, I
Dodman, N
Petra, AI
Taliou, A
Francis, K
Moon-Fanelli, A
Shuster, L
Theoharides, TC
AF Tsilioni, I.
Dodman, N.
Petra, A. I.
Taliou, A.
Francis, K.
Moon-Fanelli, A.
Shuster, L.
Theoharides, T. C.
TI Elevated serum neurotensin and CRH levels in children with autistic
spectrum disorders and tail-chasing Bull Terriers with a phenotype
similar to autism
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID CORTICOTROPIN-RELEASING HORMONE; MAST-CELL DEGRANULATION;
VASCULAR-PERMEABILITY; ANIMAL-MODELS; MITOCHONDRIAL DYSFUNCTION;
BEHAVIORAL PHENOTYPES; IMMUNE DYSREGULATION; SKIN DISORDERS; ACUTE
STRESS; INFLAMMATION
AB Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by defects in communication and social interactions, as well as stereotypic behaviors. Symptoms typically worsen with anxiety and stress. ASD occur in early childhood, often present with regression and have a prevalence of 1 out of 68 children. The lack of distinct pathogenesis or any objective biomarkers or reliable animal models hampers our understanding and treatment of ASD. Neurotensin (NT) and corticotropin-releasing hormone (CRH) are secreted under stress in various tissues, and have proinflammatory actions. We had previously shown that NT augments the ability of CRH to increase mast cell (MC)-dependent skin vascular permeability in rodents. CRH also induced NT receptor gene and protein expression in MCs, which have been implicated in ASD. Here we report that serum of ASD children (4-10 years old) has significantly higher NT and CRH levels as compared with normotypic controls. Moreover, there is a statistically significant correlation between the number of children with gastrointestinal symptoms and high serum NT levels. In Bull Terriers that exhibit a behavioral phenotype similar to the clinical presentation of ASD, NT and CRH levels are also significantly elevated, as compared with unaffected dogs of the same breed. Further investigation of serum NT and CRH, as well as characterization of this putative canine breed could provide useful insights into the pathogenesis, diagnosis and treatment of ASD.
C1 [Tsilioni, I.; Petra, A. I.; Shuster, L.; Theoharides, T. C.] Tufts Univ, Sch Med, Dept Integrat Physiol & Pathobiol, Boston, MA 02111 USA.
[Dodman, N.; Moon-Fanelli, A.] Tufts Univ, Cummings Sch Vet Med, Dept Clin Sci, Grafton, MA USA.
[Taliou, A.; Francis, K.] Univ Athens, Attikon Gen Hosp, Dept Psychiat 2, Athens, Greece.
[Theoharides, T. C.] Tufts Univ, Sch Med, Dept Internal Med, Boston, MA 02111 USA.
[Theoharides, T. C.] Tufts Med Ctr, Boston, MA USA.
[Theoharides, T. C.] Tufts Univ, Sch Med, Dept Psychiat, Boston, MA 02111 USA.
RP Theoharides, TC (reprint author), Tufts Univ, Sch Med, Dept Integrat Physiol & Pathobiol, 136 Harrison Ave,Suite J304, Boston, MA 02111 USA.
EM theoharis.theoharides@tufts.edu
FU Autism Research Institute; National Autism Association; Theta Biomedical
Consulting and Development (Brookline, MA, USA)
FX This study was supported in part by the Autism Research Institute,
National Autism Association and Theta Biomedical Consulting and
Development (Brookline, MA, USA). We thank Dr AK Theoharides for
collecting the human normotypic serum samples and Mrs Smaro Panagiotidou
for her word processing skills.
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NR 81
TC 1
Z9 1
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD OCT
PY 2014
VL 4
AR e466
DI 10.1038/tp.2014.106
PG 7
WC Psychiatry
SC Psychiatry
GA AT3HT
UT WOS:000344827100010
PM 25313509
ER
PT J
AU Ji, BB
Sun, M
Yi, RF
Tang, SY
AF Ji, Binbin
Sun, Mei
Yi, Rongfang
Tang, Siyuan
TI Multidisciplinary Parent Education for Caregivers of Children with
Autism Spectrum Disorders
SO ARCHIVES OF PSYCHIATRIC NURSING
LA English
DT Article
ID QUALITY-OF-LIFE; PERCEIVED SOCIAL SUPPORT; MENTAL-HEALTH;
MULTIDIMENSIONAL SCALE; BURDEN INVENTORY; SELF-EFFICACY; MOTHERS;
ADOLESCENTS; STIGMA; STRESS
AB This quasi-experimental study aimed to determine the effectiveness of a multidisciplinary parent education program focused on improving health-related quality of life (HRQOL) for caregivers of children with autism spectrum disorders (ASD). This study included 42 participants (22 intervention, 20 wait-list control) who were the main caregivers of children with ASD. Data were collected at baseline and post-intervention. At the end of the multidisciplinary parent education program, significant improvements were observed in the mental HRQOL, family functioning, self-efficacy and positive coping style. The results indicate that a multidisciplinary parent education program, designed for caregivers of children with ASD, may have positive effects on caregivers' mental health-related quality of life, while having little effect on their physical health-related quality of life. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Ji, Binbin] Hunan Univ Chinese Med, Sch Nursing, Changsha, Hunan, Peoples R China.
[Ji, Binbin; Sun, Mei; Tang, Siyuan] Cent S Univ, Sch Nursing, Changsha, Hunan, Peoples R China.
[Yi, Rongfang] Cent S Univ, Xiangya Hosp 2, Changsha, Hunan, Peoples R China.
RP Tang, SY (reprint author), Cent S Univ, Sch Nursing, Changsha, Hunan, Peoples R China.
EM ji04binbin@163.com; 767951031@qq.com; 524027589@qq.com;
tangsyuan@126.com
FU Central South University [CX2012B083]
FX This research was supported by Central South University (CX2012B083)
awarded to Binbin Ji.
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NR 50
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 0883-9417
EI 1532-8228
J9 ARCH PSYCHIAT NURS
JI Arch. Psychiatr. Nurs.
PD OCT
PY 2014
VL 28
IS 5
BP 319
EP 326
DI 10.1016/j.apnu.2014.06.003
PG 8
WC Nursing; Psychiatry
SC Nursing; Psychiatry
GA AS4CD
UT WOS:000344220100006
PM 25439973
ER
PT J
AU Ji, B
Zhao, I
Turner, C
Sun, M
Yi, RF
Tang, SY
AF Ji, Binbin
Zhao, Isabella
Turner, Catherine
Sun, Mei
Yi, Rongfang
Tang, Siyuan
TI Predictors of Health-Related Quality of Life in Chinese Caregivers of
Children With Autism Spectrum Disorders: A Cross-Sectional Study
SO ARCHIVES OF PSYCHIATRIC NURSING
LA English
DT Article
ID PERCEIVED SOCIAL SUPPORT; MULTIDIMENSIONAL SCALE; BURDEN INVENTORY;
AFFILIATE STIGMA; MENTAL-HEALTH; PARENTS; STRESS; FACE
AB The purpose of this study was to identify the predictors of health-related quality of life (HRQOL) among caregivers of children with autism spectrum disorders (ASD) in China. Two hundred and seventy-three caregivers were surveyed using questionnaires on HRQOL, family functioning, coping style, social support, and caregiver burden. Besides socio-demographic characteristics of children with ASD and their caregivers, results demonstrate that family functioning, coping style, social support, caregiver burden are predictors of HRQOL in caregivers of children with ASD, and these predictors correlated with each other. These results indicate that comprehensive intervention, which focuses on improving caregivers' coping strategies, social support (especially from family members and friends) and family functioning, and on releasing caregiver burden, should be provided to caregivers of children with ASD. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Ji, Binbin; Sun, Mei; Tang, Siyuan] Cent S Univ, Sch Nursing, Changsha, Hunan, Peoples R China.
[Zhao, Isabella; Turner, Catherine] Univ Queensland, Sch Nursing & Midwifery, Brisbane, Qld, Australia.
[Yi, Rongfang] Cent S Univ, Xiangya Hosp 2, Changsha, Hunan, Peoples R China.
RP Tang, SY (reprint author), Cent S Univ, Sch Nursing, Changsha, Hunan, Peoples R China.
EM ji04binbin@163.com; i.zhao@uq.edu.au; catherine.turner@uq.edu.au;
767951031@qq.com; 524027589@qq.com; ji0binbin@hotmail.com
FU Central South University [CX2012B083]
FX This study was funded by Central South University (CX2012B083).
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NR 59
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 0883-9417
EI 1532-8228
J9 ARCH PSYCHIAT NURS
JI Arch. Psychiatr. Nurs.
PD OCT
PY 2014
VL 28
IS 5
BP 327
EP 332
DI 10.1016/j.apnu.2014.06.001
PG 6
WC Nursing; Psychiatry
SC Nursing; Psychiatry
GA AS4CD
UT WOS:000344220100007
PM 25439974
ER
PT J
AU Barneveld, PS
Swaab, H
van Engeland, H
de Sonneville, L
AF Barneveld, Petra Suzanne
Swaab, Hanna
van Engeland, Herman
de Sonneville, Leo
TI Cross-Sectional Evidence for a Decrease in Cognitive Function With Age
in Children With Autism Spectrum Disorders?
SO AUTISM RESEARCH
LA English
DT Article
DE cognitive functioning; intelligence profiles; development; age; autism
spectrum disorders
ID IQ; PROFILES; CHILDHOOD
AB Autism spectrum disorders (ASD) are associated with early disturbances in brain maturation processes and these interferences presumably have their consequences for the progressive emergence of cognitive deficits later in life, as expressed in intelligence profiles. In this study, we addressed the impact of age on cognitive functioning of 6- to 15-year-old children and adolescents with ASD. Intelligence profiles were measured by the Wechsler Intelligence Scale for Children and compared among four consecutive age cohorts (children aged 6.17-8.03 years, 8.04-9.61 years, and 9.68-11.50 years and adolescents aged 11.54-15.85 years) of 237 high-functioning boys with ASD. The results clearly demonstrated that the global intelligence level was lower in children aged 8 years and older, when compared with 6- and 7-year-old children with ASD. This is mostly due to the Freedom From Distractibility factor, suggesting that older children were less able to sustain their attention, they were more distractible, or had more graph motor difficulties. Moreover, an effect of age was also found with respect to the relatively poor performance on the subtest Comprehension when compared with other verbal comprehension subtests, indicating that specifically the impairments in verbal comprehension and social reasoning abilities were more profound in older children when compared with 6- and 7-year-old children with ASD. Findings of this cross-sectional study showed that it is relevant to take age into account when evaluating the impact of cognitive impairments on intelligence in children with ASD, because the impact of these developmental disorders might be different at different ages. Autism Res2014, 7: 527-534. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Barneveld, Petra Suzanne; Swaab, Hanna; de Sonneville, Leo] Leiden Univ, Dept Clin Child & Adolescent Studies, NL-2300 RB Leiden, Netherlands.
[Swaab, Hanna; de Sonneville, Leo] Leiden Univ, Leiden Inst Brain & Cognit, NL-2300 RB Leiden, Netherlands.
[van Engeland, Herman] Univ Med Ctr Utrecht, Dept Child & Adolescent Psychiat, Rudolf Magnus Inst Neurosci, Utrecht, Netherlands.
RP Barneveld, PS (reprint author), Leiden Univ, Fac Social Sci, Dept Clin Child & Adolescent Studies, POB 9555, NL-2300 RB Leiden, Netherlands.
EM barneveldps@fsw.leidenuniv.nl
CR Achenbach T. M., 1991, INTEGRATIVE GUIDE 19
Achenbach T. M., 1986, MANUAL TEACHER REPOR
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 31
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 527
EP 534
DI 10.1002/aur.1380
PG 8
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300001
PM 25132666
ER
PT J
AU Shandley, K
Austin, DW
Bhowmik, JL
AF Shandley, Kerrie
Austin, David W.
Bhowmik, Jahar L.
TI Are Urinary Porphyrins a Valid Diagnostic Biomarker of Autism Spectrum
Disorder?
SO AUTISM RESEARCH
LA English
DT Article
DE porphyrins; biomarker; ASD diagnosis; ASD severity; heavy metals;
mercury
ID OXIDATIVE STRESS; NORMAL-CHILDREN; COPROPORPHYRINOGEN OXIDASE;
ENVIRONMENTAL TOXICITY; EXCRETION; MERCURY; PREVALENCE; EXPOSURE; MARKER
AB A fundamental challenge to the timely diagnosis of Autism Spectrum Disorder (ASD) is the reliance on the observation of a set of aberrant behavior. Consequently, the diagnostic process requires that the child reach an age where the behaviors would typically be exhibited. The identification of a reliable biological marker (biomarker) could be of considerable benefit to the diagnostic process. As a diagnostic biomarker, porphyrins present an attractive prospect as previous studies have reported consistent findings of children with ASD showing significant elevations in porphyrin levels in contrast to controls. Furthermore, there is some evidence that ASD severity may be associated with porphyrins, which would be a valuable characteristic of any ASD biomarker. Importantly, for practical use, porphyrins can be tested non-invasively via a sample of urine. The present study sought to investigate whether porphyrin profiles can reliably be used to (a) differentiate ASD cases from healthy controls; and (b) predict ASD severity. The study compared the porphyrin levels of three groups of children aged 2-6 years: Group 1children diagnosed with ASD (n=70); Group 2healthy, normally developing siblings of children diagnosed with ASD (n=36); and Group 3healthy, normally developing children with no known blood relative diagnosed with ASD (n=54). The results of logistic regression analyses failed to find support for the hypotheses that porphyrin levels could be used as a valid tool to detect ASD cases or predict severity. Autism Res2014, 7: 535-542. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Shandley, Kerrie; Austin, David W.] Deakin Univ, Fac Hlth, Sch Psychol, Burwood, Vic 3125, Australia.
[Bhowmik, Jahar L.] Swinburne Univ Technol, Fac Life & Social Sci, Hawthorn, Vic 3122, Australia.
RP Austin, DW (reprint author), Deakin Univ, Fac Hlth, Sch Psychol, 221 Burwood Highway, Burwood, Vic 3125, Australia.
EM david.austin@deakin.edu.au
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Amminger GP, 2007, BIOL PSYCHIAT, V61, P551, DOI 10.1016/j.biopsych.2006.05.007
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NR 38
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 535
EP 542
DI 10.1002/aur.1385
PG 8
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300002
PM 24756868
ER
PT J
AU Wong, AYS
Hsia, YF
Chan, EW
Murphy, DGM
Simonoff, E
Buitelaar, JK
Wong, ICK
AF Wong, Angel Y. S.
Hsia, Yingfen
Chan, Esther W.
Murphy, Declan G. M.
Simonoff, Emily
Buitelaar, Jan K.
Wong, Ian C. K.
TI The Variation of Psychopharmacological Prescription Rates for People
With Autism Spectrum Disorder (ASD) in 30 Countries
SO AUTISM RESEARCH
LA English
DT Article
DE epidemiology; Gross Domestic Product; Psychopharmacology; Multinational
study
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; PSYCHOTROPIC MEDICATION USE;
PSYCHIATRIC-DISORDERS; UNITED-KINGDOM; PRIMARY-CARE; CHILDREN;
ADOLESCENTS; PREVALENCE; POPULATION; UK
AB There is significant variation in prescriptions among countries in clinical practice for the treatment of comorbidities associated with autism spectrum disorder (ASD). It has been suggested that many people with mental health disorders in low-/middle-income countries do not receive adequate treatment. Hence, this study investigated psychopharmacological treatment patterns for ASD comorbidities in 30 countries and the association between country's income and prescription rates. The IMS Prescribing Insights database was used to investigate prescription patterns for ASD comorbidity treatment from 2007 to 2012. Data were obtained from 30 countries in continents of Europe, Asia, Oceania, Central America, South America, and Africa. The gross domestic product (GDP) per capita was used as a proxy for each country's income. Spearman correlation was used to examine the association between prescription rate and GDP per capita. The highest prescription rates were found in Western Europe (3.89-36.36/10,000) while the lowest prescription rates were found in Asian countries, such as Turkey, Indonesia, Saudi Arabia, and Pakistan (0.04-0.82/10,000). The most commonly prescribed drug for ASD comorbidity treatment in most of the countries was risperidone, but antidepressants and antiepileptic drugs were also frequently prescribed. There was a significant positive correlation between GDP per capita and prescription rate (Spearman =0.60; P=0.0011; 95% confidence interval 0.27-0.81), that is, the higher the GDP per capita, the higher the prescription rate. There are marked international differences in prescription rates, and this is partially accounted by economic factors. Future research should combine more data for ASD comorbidity treatment to explore the disparity of psychopharmacological treatment between countries. Autism Res2014, 7: 543-554. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Wong, Angel Y. S.; Hsia, Yingfen; Chan, Esther W.; Wong, Ian C. K.] Univ Hong Kong, Li Ka Shing Fac Med, Dept Pharmacol & Pharm, Ctr Safe Medicat Practice & Res, Pokfulam, Hong Kong, Peoples R China.
[Murphy, Declan G. M.] Kings Coll London, Inst Psychiat, Sackler Inst Translat Neurodev Res, Dept Forens & Dev Sci, London WC2R 2LS, England.
[Simonoff, Emily] Kings Coll London, Dept Child & Adolescent Psychiat, Inst Psychiat, London WC2R 2LS, England.
[Simonoff, Emily] Kings Coll London, Biomed Res Ctr Mental Hlth, London WC2R 2LS, England.
[Buitelaar, Jan K.] Radboud Univ Nijmegen, Med Ctr, Dept Cognit Neurosci, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands.
[Hsia, Yingfen; Wong, Ian C. K.] UCL, UCL Sch Pharm, Dept Practice & Policy, Ctr Paediat Pharm Res, London, England.
RP Wong, ICK (reprint author), Univ Hong Kong, Li Ka Shing Fac Med, Dept Pharmacol & Pharm, Ctr Safe Medicat Practice & Res, Pokfulam, Hong Kong, Peoples R China.
EM wongick@hku.hk
FU Innovative Medicines Initiative (IMI) Joint Undertaking under European
Autism Interventions (EU-AIMS) - European Union [115300]; European
Federation of Pharmaceutical Industries and Associations (EFPIA);
National Institute of Health Research (UK)
FX This research was supported by the Innovative Medicines Initiative (IMI)
Joint Undertaking under grant agreement no. 115300: European Autism
Interventions (EU-AIMS), which are composed of financial contributions
from the European Union's Seventh Framework Programme (FP7/2007-2013),
and the European Federation of Pharmaceutical Industries and
Associations (EFPIA). D. G. M. M., I. C. K. W and E. S. also received
funding from the National Institute of Health Research (UK) for a
program grant on this topic and for a neurodevelopmental theme in the
Biomedical Research Centre at the Institute of Psychiatry, London,
United Kingdom.
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Zito J. M., 2008, CHILD ADOL PSYCH CL, V2, P1
NR 42
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 543
EP 554
DI 10.1002/aur.1391
PG 12
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300003
PM 24895332
ER
PT J
AU Amodeo, DA
Jones, JH
Sweeney, JA
Ragozzino, ME
AF Amodeo, Dionisio A.
Jones, Joshua H.
Sweeney, John A.
Ragozzino, Michael E.
TI Risperidone and the 5-HT2(A) Receptor Antagonist M100907 Improve
Probabilistic Reversal Learning in BTBR T plus tf/J Mice
SO AUTISM RESEARCH
LA English
DT Article
DE autism; cognitive flexibility; BTBR; reversal learning; serotonin;
risperidone
ID AUTISM SPECTRUM DISORDERS; PERVASIVE DEVELOPMENTAL DISORDERS; INBRED
MOUSE STRAINS; REPETITIVE BEHAVIOR; DORSOMEDIAL STRIATUM; ATTENTIONAL
SET; DOUBLE-BLIND; ATYPICAL ANTIPSYCHOTICS; ORBITOFRONTAL CORTEX;
MENTAL-RETARDATION
AB Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interactions with restricted interests and repetitive behaviors (RRBs). RRBs can severely limit daily living and be particularly stressful to family members. To date, there are limited options for treating this feature in ASD. Risperidone, an atypical antipsychotic, is approved to treat irritability in ASD, but less is known about whether it is effective in treating higher order RRBs, for example cognitive inflexibility. Risperidone also has multiple receptor targets in which only a subset may be procognitive and others induce cognitive impairment. 5HT(2A) receptor blockade represents one promising and more targeted approach, as various preclinical studies have shown that 5HT(2A) receptor antagonists improve cognition. The present study investigated whether risperidone and/or M100907, a 5HT(2A) receptor antagonist, improved probabilistic reversal learning performance in the BTBR T+tf/J (BTBR) mouse model of autism. The effects of these treatments were also investigated in C57BL/6J (B6) mice as a comparison strain. Using a spatial reversal learning test with 80/20 probabilistic feedback, similar to one in which ASD individuals exhibit impairments, both risperidone (0.125mg) and M100907 (0.01 and 0.1mg) improved reversal learning in BTBR mice. Risperidone (0.125mg) impaired reversal learning in B6 mice. Improvement in probabilistic reversal learning performance resulted from treatments enhancing the maintenance of the newly correct choice pattern. Because risperidone can lead to unwanted side effects, treatment with a specific 5HT(2A) receptor antagonist may improve cognitive flexibility in individuals with ASD while also minimizing unwanted side effects. Autism Res2014, 7: 555-567. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Amodeo, Dionisio A.; Jones, Joshua H.; Ragozzino, Michael E.] Univ Illinois, Dept Psychol, Chicago, IL 60607 USA.
[Sweeney, John A.] Univ Texas SW Med Ctr Dallas, Dallas, TX 75390 USA.
RP Ragozzino, ME (reprint author), Univ Illinois, Dept Psychol, 1007 West Harrison St, Chicago, IL 60607 USA.
EM mrago@uic.edu
FU NIH [P50 HD055751]
FX Grant sponsor: NIH Grant Number: P50 HD055751
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NR 78
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 555
EP 567
DI 10.1002/aur.1395
PG 13
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300004
PM 24894823
ER
PT J
AU Wilson, CE
Happe, F
Wheelwright, SJ
Ecker, C
Lombardo, MV
Johnston, P
Daly, E
Murphy, CM
Spain, D
Lai, MC
Chakrabarti, B
Sauter, DA
Baron-Cohen, S
Murphy, DGM
AF Wilson, C. Ellie
Happe, Francesca
Wheelwright, Sally J.
Ecker, Christine
Lombardo, Michael V.
Johnston, Patrick
Daly, Eileen
Murphy, Clodagh M.
Spain, Debbie
Lai, Meng-Chuan
Chakrabarti, Bhismadev
Sauter, Disa A.
Baron-Cohen, Simon
Murphy, Declan G. M.
CA MRC AIMS Consortium
TI The Neuropsychology of Male Adults With High-Functioning Autism or
Asperger Syndrome
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorder; cognitive profiles; autistic symptomatology;
comorbid psychopathology; support vector machine classification;
autistic subtypes
ID COMPLEX EMOTION RECOGNITION; SPECTRUM QUOTIENT AQ;
INDIVIDUAL-DIFFERENCES; EXECUTIVE DYSFUNCTION; EMPATHY QUOTIENT;
ANIMATED SHAPES; REVISED VERSION; MENTAL STATES; YOUNG-ADULTS; DISORDER
AB Autism Spectrum Disorder (ASD) is diagnosed on the basis of behavioral symptoms, but cognitive abilities may also be useful in characterizing individuals with ASD. One hundred seventy-eight high-functioning male adults, half with ASD and half without, completed tasks assessing IQ, a broad range of cognitive skills, and autistic and comorbid symptomatology. The aims of the study were, first, to determine whether significant differences existed between cases and controls on cognitive tasks, and whether cognitive profiles, derived using a multivariate classification method with data from multiple cognitive tasks, could distinguish between the two groups. Second, to establish whether cognitive skill level was correlated with degree of autistic symptom severity, and third, whether cognitive skill level was correlated with degree of comorbid psychopathology. Fourth, cognitive characteristics of individuals with Asperger Syndrome (AS) and high-functioning autism (HFA) were compared. After controlling for IQ, ASD and control groups scored significantly differently on tasks of social cognition, motor performance, and executive function (P's<0.05). To investigate cognitive profiles, 12 variables were entered into a support vector machine (SVM), which achieved good classification accuracy (81%) at a level significantly better than chance (P<0.0001). After correcting for multiple correlations, there were no significant associations between cognitive performance and severity of either autistic or comorbid symptomatology. There were no significant differences between AS and HFA groups on the cognitive tasks. Cognitive classification models could be a useful aid to the diagnostic process when used in conjunction with other data sourcesincluding clinical history. Autism Res2014, 7: 568-581. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Wilson, C. Ellie; Happe, Francesca; Ecker, Christine; Johnston, Patrick; Daly, Eileen; Murphy, Clodagh M.; Spain, Debbie; Murphy, Declan G. M.] Kings Coll London, Inst Psychiat, Sackler Inst Translat Neurodev, London SE5 8AF, England.
[Wheelwright, Sally J.; Lombardo, Michael V.; Lai, Meng-Chuan; Chakrabarti, Bhismadev; Baron-Cohen, Simon] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England.
[Wheelwright, Sally J.] Univ Southampton, Southampton, Hants, England.
[Lombardo, Michael V.] Univ Cyprus, Dept Psychol, Nicosia, Cyprus.
[Lombardo, Michael V.] Univ Cyprus, Ctr Appl Neurosci, Nicosia, Cyprus.
[Lai, Meng-Chuan] Natl Taiwan Univ, Coll Med, Dept Psychiat, Taipei 10764, Taiwan.
[Chakrabarti, Bhismadev] Univ Reading, Sch Psychol & Clin Language Sci, Reading RG6 2AH, Berks, England.
[Sauter, Disa A.] Univ Amsterdam, Dept Social Psychol, Amsterdam, Netherlands.
[MRC AIMS Consortium] Univ Oxford, Autism Res Grp, Oxford, England.
RP Wilson, CE (reprint author), Kings Coll London, Inst Psychiat, Denmark Hill, London SE5 8AF, England.
EM ellie.wilson@kcl.ac.uk
RI Ecker, Christine/E-5194-2010; Bailey, Anthony/J-2860-2014
OI Bailey, Anthony/0000-0003-4257-972X
FU Medical Research Council; AIMS Consortium through Medical Research
Council [G0400061]; NIHR Biomedical Research Centre for Mental Health at
King's College London, Institute of Psychiatry; South London & Maudsley
NHS Foundation Trust; European Union [115300]; EFPIA companies
FX The MRC AIMS Consortium is funded by the Medical Research Council and
headed by the Department of Forensic and Neurodevelopmental Sciences,
Institute of Psychiatry. This work was supported by the AIMS Consortium
through grant G0400061 from the Medical Research Council and by the NIHR
Biomedical Research Centre for Mental Health at King's College London,
Institute of Psychiatry, and South London & Maudsley NHS Foundation
Trust. The research leading to these results also received support from
the Innovative Medicines Initiative Joint Undertaking under grant
agreement no 115300, resources of which are composed of financial
contribution from the European Union's Seventh Framework Programme
(FP7/2007-2013) and EFPIA companies' in kind contribution. The authors
would also like to thank all the participants involved in the study.
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NR 73
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 568
EP 581
DI 10.1002/aur.1394
PG 14
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300005
PM 24903974
ER
PT J
AU Slaughter, V
Sen Ong, S
AF Slaughter, Virginia
Sen Ong, Su
TI Social Behaviors Increase More When Children With ASD Are Imitated by
Their Mother vs. an Unfamiliar Adult
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorders; imitation; mother-child interaction;
intervention; social responsiveness
ID AUTISTIC-CHILDREN; MIMICRY
AB Previous research suggests that being imitated by an adult increases the social behaviors of children with an autism spectrum disorder (ASD). In the current study, we examined whether familiarity with the imitating social partner modulates this effect. Ten children with ASD and their mothers participated. The children's social behaviors were observed prior to and following a 3-min period in which an adult social partner imitated everything they did. In one condition the partner was the child's mother, and in the other condition the partner was an unfamiliar experimenter. The results revealed significant increases in distal social behaviors (gazes toward the adult, vocalizing) following imitation by both partners. There was a significantly greater increase in proximal social behaviors (including approach, being physically close, and touching) and a greater decrease in playing alone when the imitator was the child's mother as opposed to the experimenter. The findings suggest that the experience of being imitated creates an atmosphere of mutuality and rapport between children with ASD and their social partners, which increases their sociability even in interactions with already familiar adults. Autism Res2014, 7: 582-589. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Slaughter, Virginia; Sen Ong, Su] Univ Queensland, Sch Psychol, Early Cognit Dev Ctr, Brisbane, Qld 4072, Australia.
RP Slaughter, V (reprint author), Univ Queensland, Sch Psychol, Mc Elwain Bldg, Brisbane, Qld 4072, Australia.
EM vps@psy.uq.edu.au
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NR 24
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 582
EP 589
DI 10.1002/aur.1392
PG 8
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300006
PM 24903832
ER
PT J
AU Akechi, H
Stein, T
Senju, A
Kikuchi, Y
Tojo, Y
Osanai, H
Hasegawa, T
AF Akechi, Hironori
Stein, Timo
Senju, Atsushi
Kikuchi, Yukiko
Tojo, Yoshikuni
Osanai, Hiroo
Hasegawa, Toshikazu
TI Absence of Preferential Unconscious Processing of Eye Contact in
Adolescents With Autism Spectrum Disorder
SO AUTISM RESEARCH
LA English
DT Article
DE eye contact; gaze processing; autism spectrum disorder; unconscious
processing
ID CONTINUOUS FLASH SUPPRESSION; INTEROCULAR SUPPRESSION; FUNCTIONAL
CONNECTIVITY; BINOCULAR-RIVALRY; GAZE DIRECTION; CHILDREN; AMYGDALA;
FACES; RESPONSES; PERCEPTION
AB Eye contact plays an essential role in social interaction. Atypical eye contact is a diagnostic and widely reported feature of autism spectrum disorder (ASD). Here, we determined whether altered unconscious visual processing of eye contact might underlie atypical eye contact in ASD. Using continuous flash suppression (CFS), we found that typically developing (TD) adolescents detected faces with a direct gaze faster than faces with an averted gaze, indicating enhanced unconscious processing of eye contact. Critically, adolescents with ASD did not show different durations of perceptual suppression for faces with direct and averted gaze, suggesting that preferential unconscious processing of eye contact is absent in this group. In contrast, in a non-CFS control experiment, both adolescents with ASD and TD adolescents detected faces with a direct gaze faster than those with an averted gaze. Another CFS experiment confirmed that unconscious processing of non-social stimuli is intact for adolescents with ASD. These results suggest that atypical processing of eye contact in individuals with ASD could be related to a weaker initial, unconscious registration of eye contact. Autism Res2014, 7: 590-597. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Akechi, Hironori; Kikuchi, Yukiko] Japan Soc Promot Sci, Tokyo, Japan.
[Akechi, Hironori] Tokyo Denki Univ, Div Informat Syst Design, Saitama, Japan.
[Stein, Timo] Univ Trento, Ctr Mind Brain Sci CIMeC, Trento, Italy.
[Senju, Atsushi] Birkbeck Univ London, Ctr Brain & Cognit Dev, London, England.
[Kikuchi, Yukiko; Tojo, Yoshikuni] Ibaraki Univ, Coll Educ, Ibaraki, Japan.
[Osanai, Hiroo] Musashino Higashi Gakuen, Musashino Higashi Ctr Educ & Res, Tokyo, Japan.
[Hasegawa, Toshikazu] Univ Tokyo, Dept Cognit & Behav Sci, Tokyo 1538902, Japan.
RP Akechi, H (reprint author), Univ Tampere, Sch Social Sci & Humanities, Tampere 33014, Finland.
EM akechi@cogn.jp
FU Japan Society for the Promotion of Science (JSPS) [2310946, 2310196];
JSPS [24330207]; UK Medical Research Council [1100252]; Center for
Evolutionary Cognitive Sciences at University of Tokyo
FX Grant sponsors: Japan Society for the Promotion of Science (JSPS):
Grant-in-Aid for JSPS Fellows #2310946 (H. A.) and #2310196 (Y.K.),
JSPS: Grant-in-Aid for Scientific Research (B) #24330207 (T. H.), UK
Medical Research Council Career Development Award (G) #1100252 (A. S.),
and Center for Evolutionary Cognitive Sciences at University of Tokyo.
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NR 49
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 590
EP 597
DI 10.1002/aur.1397
PG 8
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300007
PM 24962761
ER
PT J
AU Rudra, A
Banerjee, S
Singhal, N
Barua, M
Mukerji, S
Chakrabarti, B
AF Rudra, Alokananda
Banerjee, Saoni
Singhal, Nidhi
Barua, Merry
Mukerji, Shaneel
Chakrabarti, Bhismadev
TI Translation and Usability of Autism Screening and Diagnostic Tools for
Autism Spectrum Conditions in India
SO AUTISM RESEARCH
LA English
DT Article
DE screening; global mental health; translation; cultural
ID PERVASIVE DEVELOPMENTAL DISORDERS; CHILDHOOD AUTISM; CUMULATIVE
INCIDENCE; GENERAL-POPULATION; YOUNG-CHILDREN; VALIDITY; PREVALENCE;
CHECKLIST; JAPAN; QUESTIONNAIRE
AB There is a critical need for screening and diagnostic tools (SDT) for autism spectrum conditions (ASC) in regional languages in South Asia. To address this, we translated four widely used SDT (Social Communication Disorder Checklist, Autism Spectrum Quotient, Social Communication Questionnaire, and Autism Diagnostic Observation Schedule) into Bengali and Hindi, two main regional languages (approximate to 360 million speakers), and tested their usability in children with and without ASC. We found a significant difference in scores between children with ASC (n=45 in Bengali, n=40 in Hindi) and typically developing children (n=43 in Bengali, n=42 in Hindi) on all SDTs. These results demonstrate that these SDTs are usable in South Asia, and constitute an important resource for epidemiology research and clinical diagnosis in the region. Autism Res2014, 7: 598-607. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Rudra, Alokananda; Chakrabarti, Bhismadev] Univ Reading, Sch Psychol & Clin Language Sci, Reading RG6 6AL, Berks, England.
[Banerjee, Saoni; Mukerji, Shaneel] Creating Connect, Kolkata, India.
[Singhal, Nidhi; Barua, Merry] Act Autism, Natl Ctr Autism, Delhi, India.
[Chakrabarti, Bhismadev] Univ Cambridge, Autism Res Ctr, Cambridge, England.
RP Chakrabarti, B (reprint author), Univ Reading, Sch Psychol & Clin Language Sci, Reading RG6 6AL, Berks, England.
EM b.chakrabarti@reading.ac.uk
FU Autism Speaks
FX Grant sponsor: Autism Speaks.
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NR 40
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 598
EP 607
DI 10.1002/aur.1404
PG 10
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300008
PM 25277878
ER
PT J
AU Caceres, AS
Keren, N
Booth, R
Happe, F
AF Caceres, Antonia San Jose
Keren, Noa
Booth, Rhonda
Happe, Francesca
TI Assessing Theory of Mind Nonverbally in Those With Intellectual
Disability and ASD: The Penny Hiding Game
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorder; intellectual disability; Penny Hiding Game;
theory of mind; everyday functioning; adaptive functioning
ID AUTISTIC SPECTRUM DISORDERS; TASK-PERFORMANCE; FALSE BELIEF;
ROLE-TAKING; CHILDREN; BEHAVIOR; DECEPTION; LANGUAGE; 2-YEAR-OLDS;
IMPAIRMENT
AB Individuals with autism spectrum disorder (ASD) and low intellectual/language abilities are often omitted from experimental studies because of the challenges of testing these individuals. It is vital to develop appropriate and accessible tasks so that this significant part of the spectrum is not neglected. The theory of mind (ToM) has been extensively assessed in ASD, predominantly in relatively high-functioning individuals with reasonable language skills. This study aims to assess the ToM abilities of a sample of 132 participants with intellectual disability (ID) with and without ASD, matched in verbal mental age (VMA) and chronological age, using a naturalistic and nonverbal deception task: the Penny Hiding Game (PHG). The relationship between performance on the PHG and everyday adaptation was also studied. The PHG proved accessible to most participants, suggesting its suitability for use with individuals with low cognitive skills, attentional problems, and limited language. The ASD+ID group showed significantly more PHG errors, and fewer tricks, than the ID group. PHG performance correlated with Vineland adaptation scores for both groups. VMA was a major predictor of passing the task in both groups, and participants with ASD+ID required, on average, 2 years higher VMA than those with ID only, to achieve the same level of PHG success. VMA moderated the association between PHG performance and real-life social skills for the ASD+ID more than the ID group, suggesting that severely impaired individuals with ASD may rely on verbal ability to overcome their social difficulties, whereas individuals with ID alone may use more intuitive social understanding both in the PHG and everyday situations. Autism Res2014, 7: 608-616. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Caceres, Antonia San Jose] Kings Coll London, Inst Psychiat, Dept Forens & Neurodev Sci, London SE5 8AF, England.
[Keren, Noa] Kings Coll London, Sch Med, London SE5 8AF, England.
[Booth, Rhonda] Kings Coll London, Inst Child Hlth, London SE5 8AF, England.
[Happe, Francesca] Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London SE5 8AF, England.
RP Caceres, AS (reprint author), Kings Coll London, Inst Psychiat, Dept Forens & Neurodev Sci, POB 23,16 De Crespigny Pk, London SE5 8AF, England.
EM antonia.sanjose@kcl.ac.uk
FU Institute of Social Psychiatry
FX This study has been supported by an Institute of Social Psychiatry
grant, awarded to the first author as part of her PhD project. We would
like to thank all the staff at the schools that kindly opened their
doors to make this project possible: Downsview, Durants, Hatton, Hay
Lane, Horizon, Kisharon, Mapledown, Millfields, Oak Lodge, Phoenix,
Samuel Rhodes, Trinity, Tysson, West Lea, and Whitmore.
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NR 42
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 608
EP 616
DI 10.1002/aur.1405
PG 9
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300009
ER
PT J
AU Lambert, N
Wermenbol, V
Pichon, B
Acosta, S
van den Ameele, J
Perazzolo, C
Messina, D
Musumeci, MF
Dessars, B
De Leener, A
Abramowicz, M
Vilain, C
AF Lambert, Nelle
Wermenbol, Vanessa
Pichon, Bruno
Acosta, Sandra
van den Ameele, Jelle
Perazzolo, Camille
Messina, Diana
Musumeci, Maria-Franca
Dessars, Barbara
De Leener, Anne
Abramowicz, Marc
Vilain, Catheline
TI A Familial Heterozygous Null Mutation of MET in Autism Spectrum Disorder
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorder; c-MET; social brain; neurodevelopment
ID RECEPTOR TYROSINE KINASE; DE-NOVO MUTATIONS; BRAIN-DEVELOPMENT; MOUSE
FOREBRAIN; GENETIC VARIANT; ASSOCIATION; EXPRESSION; RISK
AB Autism spectrum disorder (ASD) results from interactions of genetic and environmental factors. The MET proto-oncogene has been identified as a candidate gene for autism susceptibility, and is implicated in neurodevelopment and social brain circuitry. Here, we describe the first case of a familial mutation of MET, consisting of an interstitial genomic deletion removing exons 12 through 15, causing a frameshift and premature stop codon, with evidence of nonsense-mediated mRNA decay. On the other allele, patients carried the C allele of the MET promoter rs1858830 polymorphism, known to decrease MET expression and previously associated with autism susceptibility. The heterozygous mutation was associated with autism in one patient, and language and social impairment in a sibling. Our observations delineate the phenotypic spectrum associated with a clearly defined, very likely complete loss of function mutation of MET. Incomplete penetrance in this family was consistent with MET as a partial susceptibility gene for ASD. Implication of MET in normal and pathological brain development opens new perspectives for understanding the pathophysiology of autism and for eventual therapeutical clues. Autism Res2014, 7: 617-622. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Lambert, Nelle; Pichon, Bruno; Dessars, Barbara; De Leener, Anne; Abramowicz, Marc; Vilain, Catheline] Univ Libre Bruxelles, Hop Erasme, ULB Ctr Human Genet, B-1070 Brussels, Belgium.
[Lambert, Nelle; Acosta, Sandra; van den Ameele, Jelle; Perazzolo, Camille; Abramowicz, Marc] Univ Libre Bruxelles, IRIBHM, B-1070 Brussels, Belgium.
[Wermenbol, Vanessa; Messina, Diana] Univ Libre Bruxelles, Hop Erasme, Dept Paediat Neurol, B-1070 Brussels, Belgium.
[van den Ameele, Jelle] Ghent Univ Hosp, Dept Neurol, Ghent, Belgium.
[Musumeci, Maria-Franca] Commiss European Communities, European Sch, B-1049 Brussels, Belgium.
RP Lambert, N (reprint author), Univ Libre Bruxelles, Hop Erasme, ULB Ctr Human Genet, Route Lennik 808, B-1070 Brussels, Belgium.
EM Nelle.Lambert@ulb.ac.be
FU Fonds de la Recherche Scientifique Medicale (FRSM) of the Belgian FNRS;
Fonds Erasme; Fonds IRIS
FX We thank P. Vanderhaeghen for continuous support and interest, and the
members of IRIBHM for helpful discussions and advice. We thank the
patients and families for participating in the study. N. Lambert is an
MD. Postdoctoral Fellow of the FNRS, J. van den Ameele is a Research
Fellow of the FNRS, and M. Abramowicz is supported by the Fonds de la
Recherche Scientifique Medicale (FRSM) of the Belgian FNRS and by the
Fonds Erasme. Patients' parents gave written informed consent. C. Vilain
is supported by Fonds IRIS.
CR Abrahams BS, 2008, NAT REV GENET, V9, P341, DOI 10.1038/nrg2346
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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
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 617
EP 622
DI 10.1002/aur.1396
PG 6
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300010
PM 24909855
ER
PT J
AU Carr, ME
Moore, DW
Anderson, A
AF Carr, Monica E.
Moore, Dennis W.
Anderson, Angelika
TI Self-Management Interventions on Students With Autism: A Meta-Analysis
of Single-Subject Research
SO EXCEPTIONAL CHILDREN
LA English
DT Article
ID SPECTRUM DISORDERS; CLASSROOM-BEHAVIOR; GENERAL-EDUCATION;
ASPERGER-SYNDROME; SCHOOL SETTINGS; SOCIAL SKILLS; CHILDREN; INCREASE;
DISABILITIES; PRESCHOOLERS
AB Self-management interventions aimed at skill acquisition and/or improving behavior of students diagnosed with autism spectrum disorders were examined. Twenty-three single-subject research design studies met inclusion criteria. Quality assessment of these studies was conducted using the What Works Clearinghouse guidelines, and treatment effect sizes were calculated using the percentage of nonoverlapping data. Results were analyzed by age, setting, functional level, and target behaviors. Results indicate that self-management interventions are effective for increasing both social and academic skills for students of all ages and levels of ability. Results generalized to other settings and untreated behaviors and were maintained over time. Sufficient evidence supports the conclusion that self-management is an evidence-based procedure for students diagnosed with autism spectrum disorders.
C1 [Carr, Monica E.; Moore, Dennis W.; Anderson, Angelika] Monash Univ, Krongold Ctr, Fac Educ, Melbourne, Vic 3800, Australia.
RP Carr, ME (reprint author), Monash Univ, Fac Educ, Bldg 6,Clayton Campus, Melbourne, Vic 3800, Australia.
EM mebar4@student.monash.edu
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NR 54
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0014-4029
EI 2163-5560
J9 EXCEPT CHILDREN
JI Except. Child.
PD OCT
PY 2014
VL 81
IS 1
BP 28
EP 44
DI 10.1177/0014402914532235
PG 17
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AR9ZD
UT WOS:000343935300004
ER
PT J
AU Boswell, K
Zablotsky, B
Smith, C
AF Boswell, Katelyn
Zablotsky, Benjamin
Smith, Christopher
TI Predictors of Autism Enrollment in Public School Systems
SO EXCEPTIONAL CHILDREN
LA English
DT Article
ID MENTAL-HEALTH-SERVICES; PERVASIVE DEVELOPMENTAL DISORDERS; DISABILITIES
MONITORING NETWORK; US METROPOLITAN-AREA; SPECTRUM DISORDERS;
UNITED-STATES; SOCIOECONOMIC-STATUS; CHILDREN; PREVALENCE; DIAGNOSIS
AB With a number of disparities present in the diagnosis and treatment of children with autism spectrum disorders, the education system plays a crucial role in the provision of both these service elements. Based on school and federal census data, this article examines one state's public school autism enrollment and possible predictors of enrollment within each jurisdiction. The authors' analyses found that actual prevalence is inconsistent with expectations across jurisdictions, with socioeconomic status indicators, race, geographic location, and racial diagnostic discrepancies in special education significantly predicting enrollment. This report exemplifies how secondary analysis of educational data can allow states to better allocate funding, begin to address issues pertaining to lags and unmet standards, and find model systems within their states.
C1 [Boswell, Katelyn] Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD 21211 USA.
[Zablotsky, Benjamin] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Mental Hlth, Baltimore, MD USA.
[Smith, Christopher] Kennedy Krieger Inst, Maryland Ctr Dev Disabil, Baltimore, MD 21211 USA.
RP Boswell, K (reprint author), Kennedy Krieger Inst, Ctr Autism & Related Disorders, 3901 Greenspring Ave, Baltimore, MD 21211 USA.
EM boswellk@kennedykrieger.org
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NR 43
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0014-4029
EI 2163-5560
J9 EXCEPT CHILDREN
JI Except. Child.
PD OCT
PY 2014
VL 81
IS 1
BP 96
EP 106
DI 10.1177/0014402914532230
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AR9ZD
UT WOS:000343935300008
ER
PT J
AU Rai, B
Sharif, F
AF Rai, Birendra
Sharif, Farhana
TI Genetic Anticipation and Autism
SO INDIAN PEDIATRICS
LA English
DT Letter
ID DELETION
C1 [Rai, Birendra] Hosp Mullingar, Dept Pediat, Mullingar, Ireland.
[Sharif, Farhana] Royal Coll Surgeons Ireland, Dublin 2, Ireland.
RP Rai, B (reprint author), Hosp Mullingar, Dept Pediat, Mullingar, Ireland.
EM drbirendrarai@gmail.com
CR Alarcon M, 2008, AM J HUM GENET, V82, P150, DOI 10.1016/j.ajhg.2007.09.005
Lennon PA, 2007, AM J MED GENET A, V143A, P791, DOI 10.1002/ajmg.a.31632
Matsson H, 2011, BEHAV GENET, V41, P134, DOI 10.1007/s10519-010-9431-4
Muhle R, 2004, PEDIATRICS, V113, pE472, DOI 10.1542/peds.113.5.e472
Rossi E, 2008, EUR J MED GENET, V51, P631, DOI 10.1016/j.ejmg.2008.06.010
NR 5
TC 0
Z9 0
PU SPRINGER INDIA
PI NEW DELHI
PA 7TH FLOOR, VIJAYA BUILDING, 17, BARAKHAMBA ROAD, NEW DELHI, 110 001,
INDIA
SN 0019-6061
EI 0974-7559
J9 INDIAN PEDIATR
JI Indian Pediatrics
PD OCT
PY 2014
VL 51
IS 10
BP 841
EP 842
PG 2
WC Pediatrics
SC Pediatrics
GA AS0KU
UT WOS:000343966900022
PM 25362026
ER
PT J
AU Saitsu, H
Tohyama, J
Walsh, T
Kato, M
Kobayashi, Y
Lee, M
Tsurusaki, Y
Miyake, N
Goto, Y
Nishino, I
Ohtake, A
King, MC
Matsumoto, N
AF Saitsu, Hirotomo
Tohyama, Jun
Walsh, Tom
Kato, Mitsuhiro
Kobayashi, Yu
Lee, Ming
Tsurusaki, Yoshinori
Miyake, Noriko
Goto, Yu-ichi
Nishino, Ichizo
Ohtake, Akira
King, Mary-Claire
Matsumoto, Naomichi
TI A girl with West syndrome and autistic features harboring a de novo
TBL1XR1 mutation
SO JOURNAL OF HUMAN GENETICS
LA English
DT Article
ID PITT-HOPKINS-SYNDROME; E-SELECTIN; TBL1-TBLR1; GENES; TCF4
AB Recently, de novo mutations in TBL1XR1 were found in two patients with autism spectrum disorders. Here, we report on a Japanese girl presenting with West syndrome, Rett syndrome-like and autistic features. Her initial development was normal until she developed a series of spasms at 5 months of age. Electroencephalogram at 7 months showed a pattern of hypsarrhythmia, which led to a diagnosis of West syndrome. Stereotypic hand movements appeared at 8 months of age, and autistic features such as deficits in communication, hyperactivity and excitability were observed later, at 4 years and 9 months. Whole exome sequencing of the patient and her parents revealed a de novo TBL1XR1 mutation [c.209 G>A ( p.Gly70Asp)] occurring at an evolutionarily conserved amino acid in an F-box-like domain. Our report expands the clinical spectrum of TBL1XR1 mutations to West syndrome with Rett-like features, together with autistic features.
C1 [Saitsu, Hirotomo; Tsurusaki, Yoshinori; Miyake, Noriko; Matsumoto, Naomichi] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan.
[Tohyama, Jun; Kobayashi, Yu] Nishi Niigata Chuo Natl Hosp, Dept Pediat, Niigata, Japan.
[Walsh, Tom; Lee, Ming; King, Mary-Claire] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA.
[Walsh, Tom; Lee, Ming; King, Mary-Claire] Univ Washington, Dept Med, Seattle, WA USA.
[Kato, Mitsuhiro] Yamagata Univ, Fac Med, Dept Pediat, Yamagata 990, Japan.
[Goto, Yu-ichi] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Kodaira, Tokyo 1870031, Japan.
[Nishino, Ichizo] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, Kodaira, Tokyo 1870031, Japan.
[Ohtake, Akira] Saitama Med Univ, Fac Med, Dept Pediat, Saitama, Japan.
RP Saitsu, H (reprint author), Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan.
EM hsaitsu@yokohama-cu.ac.jp; naomat@yokohama-cu.ac.jp
FU Japanese Ministry of Health, Labour, and Welfare; Japan Society for the
Promotion of Science [25293085, 25293235, 13313587]; Takeda Science
Foundation; fund for Creation of Innovation Centers for Advanced
Interdisciplinary Research Areas Program in the Project for Developing
Innovation Systems; Strategic Research Program for Brain Sciences
[11105137]; Japanese Ministry of Education, Culture, Sports, Science,
and Technology [12024421]
FX We would like to thank the patient and her family for their
participation in this study. We thank Kiyomi Nishiyama for her technical
assistance. This study was supported by: the Japanese Ministry of
Health, Labour, and Welfare; the Japan Society for the Promotion of
Science (a Grant-in-Aid for Scientific Research (B) (25293085, 25293235)
and a Grant-in-Aid for Scientific Research (A) (13313587)); the Takeda
Science Foundation; the fund for Creation of Innovation Centers for
Advanced Interdisciplinary Research Areas Program in the Project for
Developing Innovation Systems; the Strategic Research Program for Brain
Sciences (11105137); and a Grant-in-Aid for Scientific Research on
Innovative Areas (Transcription Cycle) from the Japanese Ministry of
Education, Culture, Sports, Science, and Technology (12024421).
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NR 11
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1434-5161
EI 1435-232X
J9 J HUM GENET
JI J. Hum. Genet.
PD OCT
PY 2014
VL 59
IS 10
BP 581
EP 583
DI 10.1038/jhg.2014.71
PG 3
WC Genetics & Heredity
SC Genetics & Heredity
GA AS9DB
UT WOS:000344542300007
PM 25102098
ER
PT J
AU Kenkel, WM
Yee, JR
Carter, CS
AF Kenkel, W. M.
Yee, J. R.
Carter, C. S.
TI Is Oxytocin a Maternal-Foetal Signalling Molecule at Birth? Implications
for Development
SO JOURNAL OF NEUROENDOCRINOLOGY
LA English
DT Review
DE oxytocin; labour; development; brain; autism spectrum disorder
ID AUTISM SPECTRUM DISORDERS; BLOOD-BRAIN-BARRIER; NEONATAL RISK-FACTORS;
AMINOPEPTIDASE P-LAP; INSULIN-REGULATED AMINOPEPTIDASE; AFFECTED SIBLING
PAIRS; PLASMA ANGIOTENSIN-I; FEMALE PRAIRIE VOLES; GENE KNOCKOUT MICE;
SOCIAL-BEHAVIOR
AB The neuropeptide oxytocin was first noted for its capacity to promote uterine contractions and facilitate delivery in mammals. The study of oxytocin has grown to include awareness that this peptide is a neuromodulator with broad effects throughout the body. Accumulating evidence suggests that oxytocin is a powerful signal to the foetus, helping to prepare the offspring for the extrauterine environment. Concurrently, the use of exogenous oxytocin or other drugs to manipulate labour has become common practice. The use of oxytocin to expedite labour and minimise blood loss improves both infant and maternal survival under some conditions. However, further investigations are needed to assess the developmental consequences of changes in oxytocin, such as those associated with pre-eclampsia or obstetric manipulations associated with birth. This review focuses on the role of endogenous and exogenous oxytocin as a neurochemical signal to the foetal nervous system. We also examine the possible developmental consequences, including those associated with autism spectrum disorder, that arise from exogenous oxytocin supplementation during labour.
C1 [Kenkel, W. M.; Yee, J. R.; Carter, C. S.] Northeastern Univ, Dept Psychol, Boston, MA 02135 USA.
[Carter, C. S.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA.
RP Kenkel, WM (reprint author), Northeastern Univ, Dept Psychol, 360 Huntington Ave, Boston, MA 02135 USA.
EM w.kenkel@neu.edu
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NR 173
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0953-8194
EI 1365-2826
J9 J NEUROENDOCRINOL
JI J. Neuroendocrinol.
PD OCT
PY 2014
VL 26
IS 10
BP 739
EP 749
DI 10.1111/jne.12186
PG 11
WC Endocrinology & Metabolism; Neurosciences
SC Endocrinology & Metabolism; Neurosciences & Neurology
GA AR9YF
UT WOS:000343932700010
PM 25059673
ER
PT J
AU Salhia, HO
Al-Nasser, LA
Taher, LS
Al-Khathaami, AM
El-Metwally, AA
AF Salhia, Huda O.
Al-Nasser, Lubna A.
Taher, Lama S.
Al-Khathaami, Ali M.
El-Metwally, Ashraf A.
TI Systemic review of the epidemiology of autism in Arab Gulf countries
SO NEUROSCIENCES
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; EARLY
INTERVENTION; SAUDI-ARABIA; ENERGY-METABOLISM; OXIDATIVE STRESS;
CHILDREN; PREVALENCE; ENZYMES; DISEASE
AB Objective: To assess the current state of knowledge on the epidemiology of autism in Arab Gulf countries, and identify gaps for future research.
Methods: PubMed and ScienceDirect databases were used to identify relevant articles published until the 3rd of April 2013 (date of search). The search was conducted using the electronic library of King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. Studies were eligible for inclusion if they concerned the epidemiology of autism, conducted in any Arab Gulf country, and published in English.
Results: Twelve articles met the inclusion criteria. Studies showed a prevalence ranging from 1.4 to 29 per 10,000 persons. Identified risk factors were metabolic, autoimmune, and environmental in nature. The following determinants were found as possible contributing factors for autism: suboptimal breast-feeding, advanced maternal and paternal age, cesarean section, and prenatal complications.
Conclusion: Only a few studies explored the epidemiology of autism in Arab Gulf countries and none have investigated the burden of the disease on the child, family, or society. More research is needed to better identify the burden and risk factors of autism in Gulf countries.
C1 [Salhia, Huda O.; Al-Nasser, Lubna A.; Taher, Lama S.; Al-Khathaami, Ali M.; El-Metwally, Ashraf A.] King Saud Bin Abdulaziz Univ Hlth Sci, Coll Publ Hlth & Hlth Informat, Dept Epidemiol & Biostat, Riyadh 11426, Saudi Arabia.
[Salhia, Huda O.] King Abdul Aziz Med City, Alghadeer Primary Healthcare Ctr, Riyadh, Saudi Arabia.
[Al-Nasser, Lubna A.] King Abdul Aziz Med City, Dent Serv, Minist Hlth, Primary Healthcare Ctr,Gen Directorate, Riyadh, Saudi Arabia.
[El-Metwally, Ashraf A.] Univ Aberdeen, Inst Appl Hlth Sci, Epidemiol Grp, Aberdeen, Scotland.
RP El-Metwally, AA (reprint author), King Saud Bin Abdulaziz Univ Hlth Sci, Coll Publ Hlth & Hlth Informat, Dept Epidemiol & Biostat, Internal Mail Code 2350,POB 22490, Riyadh 11426, Saudi Arabia.
EM ashraf.elmetwally@gmail.com
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NR 35
TC 0
Z9 0
PU RIYADH ARMED FORCES HOSPITAL
PI RIYADH
PA PO BOX 7897, RIYADH, KSA 11159, SAUDI ARABIA
SN 1319-6138
J9 NEUROSCIENCES
JI Neurosciences
PD OCT
PY 2014
VL 19
IS 4
BP 291
EP 296
PG 6
WC Clinical Neurology
SC Neurosciences & Neurology
GA AS3DP
UT WOS:000344157000004
PM 25274588
ER
PT J
AU Esmaeeli Nieh, S
Sherr, E
AF Esmaeeli Nieh, Sahar
Sherr, Elliott H.
TI Epileptic Encephalopathies: New Genes and New Pathways
SO NEUROTHERAPEUTICS
LA English
DT Review
DE Epileptic encephalopathies; Genetics; Treatment; Infantile spasms;
Dravet syndrome; Lennox-Gastaut syndrome
ID LENNOX-GASTAUT-SYNDROME; ELECTRICAL STATUS EPILEPTICUS; DE-NOVO
MUTATIONS; MIGRATING PARTIAL SEIZURES; LANDAU-KLEFFNER SYNDROME;
NEONATAL-INFANTILE SEIZURES; AUTISM SPECTRUM DISORDERS; SEVERE MYOCLONIC
EPILEPSY; GLUT1 DEFICIENCY SYNDROME; PLURIPOTENT STEM-CELLS
AB Epileptic encephalopathies represent a group of devastating epileptic disorders that occur early in life and are often characterized by pharmaco-resistant epilepsy, persistent severe electroencephalographic abnormalities, and cognitive dysfunction or decline. Next generation sequencing technologies have increased the speed of gene discovery tremendously. Whereas ion channel genes were long considered to be the only significant group of genes implicated in the genetic epilepsies, a growing number of non-ion-channel genes are now being identified. As a subgroup of the genetically mediated epilepsies, epileptic encephalopathies are complex and heterogeneous disorders, making diagnosis and treatment decisions difficult. Recent exome sequencing data suggest that mutations causing epileptic encephalopathies are often sporadic, typically resulting from de novo dominant mutations in a single autosomal gene, although inherited autosomal recessive and X-linked forms also exist.
In this review we provide a summary of the key features of several early- and mid-childhood onset epileptic encephalopathies including Ohtahara syndrome, Dravet syndrome, Infantile spasms and Lennox Gastaut syndrome. We review the recent next generation sequencing findings that may impact treatment choices. We also describe the use of conventional and newer anti-epileptic and hormonal medications in the various syndromes based on their genetic profile. At a biological level, developments in cellular reprogramming and genome editing represent a new direction in modeling these pediatric epilepsies and could be used in the development of novel and repurposed therapies.
C1 [Esmaeeli Nieh, Sahar; Sherr, Elliott H.] Univ Calif San Francisco, Dept Neurol & Pediat, San Francisco, CA 94143 USA.
RP Esmaeeli Nieh, S (reprint author), Univ Calif San Francisco, Dept Neurol & Pediat, San Francisco, CA 94143 USA.
EM EsmaeeliS@neuropeds.ucsf.edu; sherre@neuropeds.ucsf.edu
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NR 150
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1933-7213
EI 1878-7479
J9 NEUROTHERAPEUTICS
JI Neurotherapeutics
PD OCT
PY 2014
VL 11
IS 4
BP 796
EP 806
DI 10.1007/s13311-014-0301-2
PG 11
WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA AS3AI
UT WOS:000344147100011
ER
PT J
AU Van de Cruys, S
Evers, K
Van der Hallen, R
Van Eylen, L
Boets, B
de-Wit, L
Wagemans, J
AF de Cruys, Sander Van
Evers, Kris
Van der Hallen, Ruth
Van Eylen, Lien
Boets, Bart
de-Wit, Lee
Wagemans, Johan
TI Precise Minds in Uncertain Worlds: Predictive Coding in Autism
SO PSYCHOLOGICAL REVIEW
LA English
DT Article
DE autism spectrum disorder; predictive coding; uncertainty; adaptive
control; learning
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDER; EVENT-RELATED
POTENTIALS; EYED VISUAL-ACUITY; SPECTRUM DISORDERS; MISMATCH NEGATIVITY;
ASPERGER-SYNDROME; EXECUTIVE DYSFUNCTION; SELECTIVE ATTENTION; MOTION
PERCEPTION
AB There have been numerous attempts to explain the enigma of autism, but existing neurocognitive theories often provide merely a refined description of 1 cluster of symptoms. Here we argue that deficits in executive functioning, theory of mind, and central coherence can all be understood as the consequence of a core deficit in the flexibility with which people with autism spectrum disorder can process violations to their expectations. More formally we argue that the human mind processes information by making and testing predictions and that the errors resulting from violations to these predictions are given a uniform, inflexibly high weight in autism spectrum disorder. The complex, fluctuating nature of regularities in the world and the stochastic and noisy biological system through which people experience it require that, in the real world, people not only learn from their errors but also need to (meta-) learn to sometimes ignore errors. Especially when situations (e. g., social) or stimuli (e. g., faces) become too complex or dynamic, people need to tolerate a certain degree of error in order to develop a more abstract level of representation. Starting from an inability to flexibly process prediction errors, a number of seemingly core deficits become logically secondary symptoms. Moreover, an insistence on sameness or the acting out of stereotyped and repetitive behaviors can be understood as attempts to provide a reassuring sense of predictive success in a world otherwise filled with error.
C1 [de Cruys, Sander Van; de-Wit, Lee; Wagemans, Johan] Katholieke Univ Leuven, Expt Psychol Lab, B-3000 Leuven, Belgium.
[Evers, Kris; Van der Hallen, Ruth] Katholieke Univ Leuven, Expt Psychol Lab, Leuven Autism Res, B-3000 Leuven, Belgium.
[Evers, Kris; Van der Hallen, Ruth; Boets, Bart] Katholieke Univ Leuven, Dept Child Psychiat, Univ Psychiat Ctr, B-3000 Leuven, Belgium.
[Van Eylen, Lien] Katholieke Univ Leuven, Leuven Autism Res & Parenting, B-3000 Leuven, Belgium.
[Van Eylen, Lien] Katholieke Univ Leuven, Special Educ Res Unit, B-3000 Leuven, Belgium.
[Boets, Bart; Wagemans, Johan] Katholieke Univ Leuven, Leuven Autism Res, B-3000 Leuven, Belgium.
RP Van de Cruys, S (reprint author), Katholieke Univ Leuven, Expt Psychol Lab, Tiensestr 102, B-3000 Leuven, Belgium.
EM sander.vandecruys@ppw.kuleuven.be
RI Van de Cruys, Sander/F-8996-2015
OI Van de Cruys, Sander/0000-0003-4831-7800
FU Flemish Government [METH/08/02]
FX This research was supported by a Methusalem grant by the Flemish
Government (METH/08/02) to Johan Wagemans. We are incredibly grateful to
John Brock, Floris de Lange, Vebjorn Ekroll, Marie Gomot, Jakob Hohwy,
Ilona Kovacs, Laurent Mottron, Colin Palmer, Jean Steyaert, Jeroen van
Boxtel, Peter van der Helm, and Raymond van Ee for support and
invaluable feedback on a draft of this paper and to our colleagues from
Leuven Autism Research for many interdisciplinary discussions.
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NR 291
TC 4
Z9 4
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0033-295X
EI 1939-1471
J9 PSYCHOL REV
JI Psychol. Rev.
PD OCT
PY 2014
VL 121
IS 4
BP 649
EP 675
DI 10.1037/a0037665
PG 27
WC Psychology; Psychology, Multidisciplinary
SC Psychology
GA AS6ED
UT WOS:000344356500004
PM 25347312
ER
PT J
AU Brooks, SS
Wall, AL
Golzio, C
Reid, DW
Kondyles, A
Willer, JR
Botti, C
Nicchitta, CV
Katsanis, N
Davis, EE
AF Brooks, Susan S.
Wall, Alissa L.
Golzio, Christelle
Reid, David W.
Kondyles, Amalia
Willer, Jason R.
Botti, Christina
Nicchitta, Christopher V.
Katsanis, Nicholas
Davis, Erica E.
TI A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts
Neurodevelopment and Causes X-Linked Microcephaly in Humans
SO GENETICS
LA English
DT Article
DE X-linked; microcephaly; zebrafish; ribosome; translational elongation
ID DIAMOND-BLACKFAN ANEMIA; DOMINANT RETINITIS-PIGMENTOSA; COPY-NUMBER
VARIANT; PROTEIN GENE RPL10; INTELLECTUAL DISABILITY;
MENTAL-RETARDATION; MUTATIONS; AUTISM; SUBUNIT; DISEASE
AB Neurodevelopmental defects in humans represent a clinically heterogeneous group of disorders. Here, we report the genetic and functional dissection of a multigenerational pedigree with an X-linked syndromic disorder hallmarked by microcephaly, growth retardation, and seizures. Using an X-linked intellectual disability (XLID) next-generation sequencing diagnostic panel, we identified a novel missense mutation in the gene encoding 60S ribosomal protein L10 (RPL10), a locus associated previously with autism spectrum disorders (ASD); the p.K78E change segregated with disease under an X-linked recessive paradigm while, consistent with causality, carrier females exhibited skewed X inactivation. To examine the functional consequences of the p.K78E change, we modeled RPL10 dysfunction in zebrafish. We show that endogenous rpl10 expression is augmented in anterior structures, and that suppression decreases head size in developing morphant embryos, concomitant with reduced bulk translation and increased apoptosis in the brain. Subsequently, using in vivo complementation, we demonstrate that p.K78E is a loss-of-function variant. Together, our findings suggest that a mutation within the conserved N-terminal end of RPL10, a protein in close proximity to the peptidyl transferase active site of the 60S ribosomal subunit, causes severe defects in brain formation and function.
C1 [Brooks, Susan S.; Botti, Christina] Univ Med & Dent New Jersey, Rutgers Biomed & Hlth Sci, Dept Pediat, New Brunswick, NJ 08901 USA.
[Wall, Alissa L.; Golzio, Christelle; Kondyles, Amalia; Willer, Jason R.; Katsanis, Nicholas; Davis, Erica E.] Duke Univ, Med Ctr, Ctr Human Dis Modeling, Durham, NC 27710 USA.
[Reid, David W.; Nicchitta, Christopher V.] Duke Univ, Med Ctr, Dept Biochem, Durham, NC 27710 USA.
[Nicchitta, Christopher V.] Duke Univ, Med Ctr, Dept Cell Biol, Durham, NC 27710 USA.
RP Davis, EE (reprint author), Duke Univ, Med Ctr, Box 3709, Durham, NC 27710 USA.
EM erica.davis@duke.edu
FU Duke University Undergraduate Research Support Office; National Alliance
for Research on Schizophrenia and Depression (NARSAD) Young Investigator
Grant from the Brain and Behavior Research Foundation; National
Institutes of Health (NIH) [GM101533]; Simons Foundation Autism Research
Initiative [239983]; NIH [P50MH094268]
FX We are grateful to the family in our study for their encouragement and
support of our work. We acknowledge Dustin Dowless for technical
assistance. This work was supported by funding from the Duke University
Undergraduate Research Support Office (to A. L. W.), a National Alliance
for Research on Schizophrenia and Depression (NARSAD) Young Investigator
Grant from the Brain and Behavior Research Foundation (to C. G.),
National Institutes of Health (NIH) grant GM101533 (to C.V.N.), and the
Simons Foundation Autism Research Initiative grant 239983 and NIH grant
P50MH094268 (to N.K.). N.K. is a Distinguished George W. Brumley
Professor.
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NR 43
TC 4
Z9 5
PU GENETICS SOCIETY AMERICA
PI BETHESDA
PA 9650 ROCKVILLE AVE, BETHESDA, MD 20814 USA
SN 0016-6731
EI 1943-2631
J9 GENETICS
JI Genetics
PD OCT
PY 2014
VL 198
IS 2
BP 723
EP U358
DI 10.1534/genetics.114.168211
PG 19
WC Genetics & Heredity
SC Genetics & Heredity
GA AR9HX
UT WOS:000343885300030
PM 25316788
ER
PT J
AU Wray, NR
Lee, SH
Mehta, D
Vinkhuyzen, AAE
Dudbridge, F
Middeldorp, CM
AF Wray, Naomi R.
Lee, Sang Hong
Mehta, Divya
Vinkhuyzen, Anna A. E.
Dudbridge, Frank
Middeldorp, Christel M.
TI Research Review: Polygenic methods and their application to psychiatric
traits
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Review
DE Polygenic risk scoring; genome-wide association studies; psychiatric
disorders; heritability; SNP analyses; disease traits
ID GENOME-WIDE ASSOCIATION; DEFICIT HYPERACTIVITY DISORDER;
ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; ENVIRONMENT INTERACTION
RESEARCH; MAJOR DEPRESSIVE DISORDER; AUTISM SPECTRUM DISORDER; COMMON
SNPS EXPLAIN; BIPOLAR DISORDER; COMPLEX DISEASES; MISSING HERITABILITY
AB Background: Despite evidence from twin and family studies for an important contribution of genetic factors to both childhood and adult onset psychiatric disorders, identifying robustly associated specific DNA variants has proved challenging. In the pregenomics era the genetic architecture (number, frequency and effect size of risk variants) of complex genetic disorders was unknown. Empirical evidence for the genetic architecture of psychiatric disorders is emerging from the genetic studies of the last 5 years. Methods and scope: We review the methods investigating the polygenic nature of complex disorders. We provide mini-guides to genomic profile (or polygenic) risk scoring and to estimation of variance (or heritability) from common SNPs; a glossary of key terms is also provided. We review results of applications of the methods to psychiatric disorders and related traits and consider how these methods inform on missing heritability, hidden heritability and still-missing heritability. Findings: Genome-wide genotyping and sequencing studies are providing evidence that psychiatric disorders are truly polygenic, that is they have a genetic architecture of many genetic variants, including risk variants that are both common and rare in the population. Sample sizes published to date are mostly underpowered to detect effect sizes of the magnitude presented by nature, and these effect sizes may be constrained by the biological validity of the diagnostic constructs. Conclusions: Increasing the sample size for genome wide association studies of psychiatric disorders will lead to the identification of more associated genetic variants, as already found for schizophrenia. These loci provide the starting point of functional analyses that might eventually lead to new prevention and treatment options and to improved biological validity of diagnostic constructs. Polygenic analyses will contribute further to our understanding of complex genetic traits as sample sizes increase and as sample resources become richer in phenotypic descriptors, both in terms of clinical symptoms and of nongenetic risk factors.
C1 [Wray, Naomi R.; Lee, Sang Hong; Mehta, Divya; Vinkhuyzen, Anna A. E.] Univ Queensland, Queensland Brain Inst, St Lucia, Qld 4068, Australia.
[Vinkhuyzen, Anna A. E.] Univ London London Sch Hyg & Trop Med, Dept Noncommunicable Dis Epidemiol, London WC1E 7HT, England.
[Middeldorp, Christel M.] Vrije Univ Amsterdam, Dept Biol Psychol, Amsterdam, Netherlands.
[Middeldorp, Christel M.] Vrije Univ Amsterdam, Med Ctr, GGZ InGeest, Dept Child & Adolescent Psychiat, Amsterdam, Netherlands.
RP Wray, NR (reprint author), Univ Queensland, Queensland Brain Inst, St Lucia, Qld 4068, Australia.
EM Naomi.wray@uq.edu.au
RI Wray, Naomi/C-8639-2015
OI Wray, Naomi/0000-0001-7421-3357
FU Australian Research Council [FT0991360, DE1301 00614]; Australian
National Health and Medical Research Council [613602, 1047956, 1011506];
Netherlands Organisation for Health Research and Development [91210020]
FX The authors acknowledge financial support from the Australian Research
Council (FT0991360, DE1301 00614), the Australian National Health and
Medical Research Council (613602, 1047956, 1011506), and the Netherlands
Organisation for Health Research and Development (91210020). The authors
have declared that they have no competing or potential conflicts of
interest.
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NR 126
TC 7
Z9 7
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9630
EI 1469-7610
J9 J CHILD PSYCHOL PSYC
JI J. Child Psychol. Psychiatry
PD OCT
PY 2014
VL 55
IS 10
BP 1068
EP 1087
DI 10.1111/jcpp.12295
PG 20
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AR8KS
UT WOS:000343824600002
PM 25132410
ER
PT J
AU Oz, S
Kapitansky, O
Ivashco-Pachima, Y
Malishkevich, A
Giladi, E
Skalka, N
Rosin-Arbesfeld, R
Mittelman, L
Segev, O
Hirsch, JA
Gozes, I
AF Oz, S.
Kapitansky, O.
Ivashco-Pachima, Y.
Malishkevich, A.
Giladi, E.
Skalka, N.
Rosin-Arbesfeld, R.
Mittelman, L.
Segev, O.
Hirsch, J. A.
Gozes, I.
TI The NAP motif of activity-dependent neuroprotective protein (ADNP)
regulates dendritic spines through microtubule end binding proteins
SO MOLECULAR PSYCHIATRY
LA English
DT Article
ID REDUCES TAU HYPERPHOSPHORYLATION; CENTRAL-NERVOUS-SYSTEM; NMDA
RECEPTOR-ACTIVITY; ALZHEIMERS-DISEASE; MOUSE MODEL; NEURONAL
DIFFERENTIATION; PREFRONTAL CORTEX; UP-REGULATION; PEPTIDE; DAVUNETIDE
AB The NAP motif of activity-dependent neuroprotective protein (ADNP) enhanced memory scores in patients suffering from mild cognitive impairment and protected activities of daily living in schizophrenia patients, while fortifying microtubule (MT)-dependent axonal transport, in mice and flies. The question is how does NAP fortify MTs? Our sequence analysis identified the MT end-binding protein (EB1)-interacting motif SxIP (SIP, Ser-Ile-Pro) in ADNP/NAP and showed specific SxIP binding sites in all members of the EB protein family (EB1-3). Others found that EB1 enhancement of neurite outgrowth is attenuated by EB2, while EB3 interacts with postsynaptic density protein 95 (PSD-95) to modulate dendritic plasticity. Here, NAP increased PSD-95 expression in dendritic spines, which was inhibited by EB3 silencing. EB1 or EB3, but not EB2 silencing inhibited NAP-mediated cell protection, which reflected NAP binding specificity. NAPVSKIPQ (SxIP = SKIP), but not NAPVAAAAQ mimicked NAP activity. ADNP, essential for neuronal differentiation and brain formation in mouse, a member of the SWI/SNF chromatin remodeling complex and a major protein mutated in autism and deregulated in schizophrenia in men, showed similar EB interactions, which were enhanced by NAP treatment. The newly identified shared MT target of NAP/ADNP is directly implicated in synaptic plasticity, explaining the breadth and efficiency of neuroprotective/neurotrophic capacities.
C1 [Oz, S.; Kapitansky, O.; Ivashco-Pachima, Y.; Malishkevich, A.; Giladi, E.; Gozes, I.] Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, IL-69978 Tel Aviv, Israel.
[Skalka, N.; Rosin-Arbesfeld, R.] Tel Aviv Univ, Sackler Fac Med, Dept Anat, IL-69978 Tel Aviv, Israel.
[Mittelman, L.] Tel Aviv Univ, Sackler Fac Med, Dept Interdept Serv, IL-69978 Tel Aviv, Israel.
[Segev, O.; Hirsch, J. A.] Tel Aviv Univ, George Wise Fac Life Sci, Dept Biochem & Mol Biol, IL-69978 Tel Aviv, Israel.
[Segev, O.; Gozes, I.] Tel Aviv Univ, Sagol Sch Neurosci, IL-69978 Tel Aviv, Israel.
[Segev, O.; Gozes, I.] Tel Aviv Univ, Adams Super Ctr Brain Studies, IL-69978 Tel Aviv, Israel.
RP Gozes, I (reprint author), Tel Aviv Univ, Sackler Fac Med,Lily & Avraham Gildor Chair Inves, Adams Super Ctr Brain Studies,Dept Human Mol Gene, Sagol Sch Neurosci,Edersheim Levie Gitter fMRI In, Einstein St, IL-69978 Tel Aviv, Israel.
EM igozes@post.tau.ac.il
FU Allon Therapeutics Inc.; Oberfeld family; AMN Foundation; Adams family;
Joseph Sagol Scholarship for Brain Studies; Humboldt Award
FX We thank Dr Shmuel Mandel for his work on drebrin identification.
Initial studies were supported by Allon Therapeutics Inc., Joe and Grace
Alter, Barbara and Don Seal, and the Oberfeld family. Further studies
were supported by AMN Foundation and the Adams family (Montreal Circle
of Friends of Tel Aviv University). Y Ivashco-Pachima is supported by
the Joseph Sagol Scholarship for Brain Studies. These studies are in
partial fulfilment of the requirements for graduate work at the Dr.
Miriam and Sheldon G. Adelson Graduate School of Medicine, and at the
Sackler Faculty of Medicine at Tel Aviv University of Drs. S. Oz and N.
Skalka, Y. and O Kapitansky (M.Sc.), Y Ivashco-Pachima (Ph.D. studies)
and A Malishkevich (Ph.D. studies). Professor Gozes is the incumbent of
the Lily and Avraham Gildor Chair for the Investigation of Growth
Factors and the Head of the Adams Super Center for Brain Studies, the
Levie-Edersheim Gitter fMRI Institute and the Elton Laboratory for
Molecular Neuroendocrinology. Professor Gozes is currently a Humboldt
Award Recipient and a fellow at the Hanse-Wissenschftenkolleg, Germany.
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NR 75
TC 3
Z9 3
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD OCT
PY 2014
VL 19
IS 10
BP 1115
EP 1124
DI 10.1038/mp.2014.97
PG 10
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AR5ZN
UT WOS:000343661700011
PM 25178163
ER
PT J
AU Mohn, JL
Alexander, J
Pirone, A
Palka, CD
Lee, SY
Mebane, L
Haydon, PG
Jacob, MH
AF Mohn, J. L.
Alexander, J.
Pirone, A.
Palka, C. D.
Lee, S-Y
Mebane, L.
Haydon, P. G.
Jacob, M. H.
TI Adenomatous polyposis coli protein deletion leads to cognitive and
autism-like disabilities
SO MOLECULAR PSYCHIATRY
LA English
DT Article
ID TUMOR-SUPPRESSOR APC; RARE DE-NOVO; HIPPOCAMPAL-NEURONS; SPECTRUM
DISORDERS; CEREBRAL-CORTEX; BETA-CATENIN; INTRACHROMOSOMAL INSERTION;
INTERSTITIAL DELETION; SYNAPTIC-TRANSMISSION; MENTAL-RETARDATION
AB Intellectual disabilities (IDs) and autism spectrum disorders link to human APC inactivating gene mutations. However, little is known about adenomatous polyposis coli's (APC's) role in the mammalian brain. This study is the first direct test of the impact of APC loss on central synapses, cognition and behavior. Using our newly generated APC conditional knock-out (cKO) mouse, we show that deletion of this single gene in forebrain neurons leads to a multisyndromic neurodevelopmental disorder. APC cKO mice, compared with wild-type littermates, exhibit learning and memory impairments, and autistic-like behaviors (increased repetitive behaviors, reduced social interest). To begin to elucidate neuronal changes caused by APC loss, we focused on the hippocampus, a key brain region for cognitive function. APC cKO mice display increased synaptic spine density, and altered synaptic function (increased frequency of miniature excitatory synaptic currents, modestly enhanced long-term potentiation). In addition, we found excessive beta-catenin levels and associated changes in canonical Wnt target gene expression and N-cadherin synaptic adhesion complexes, including reduced levels of presenilin1. Our findings identify some novel functional and molecular changes not observed previously in other genetic mutant mouse models of co-morbid cognitive and autistic-like disabilities. This work thereby has important implications for potential therapeutic targets and the impact of their modulation. We provide new insights into molecular perturbations and cell types that are relevant to human ID and autism. In addition, our data elucidate a novel role for APC in the mammalian brain as a hub that links to and regulates synaptic adhesion and signal transduction pathways critical for normal cognition and behavior.
C1 [Mohn, J. L.; Alexander, J.; Pirone, A.; Palka, C. D.; Lee, S-Y; Mebane, L.; Haydon, P. G.; Jacob, M. H.] Tufts Univ, Sch Med, Sackler Biomed Grad Sch, Dept Neurosci, Boston, MA 02111 USA.
RP Jacob, MH (reprint author), Tufts Univ, Sch Med, Sackler Biomed Grad Sch, Dept Neurosci, 136 Harrison Ave,Stearns 327, Boston, MA 02111 USA.
EM Michele.Jacob@Tufts.edu
FU NIH [NINDS NS21725, NIDCD DC008802, NINDS T32-NS061764]; Tufts Center
for Neuroscience Research [NINDS P30 NS047243]
FX This research was funded by NIH grants NINDS NS21725 and NIDCD DC008802
(to MHJ), NINDS T32-NS061764 trainee support (to JA), and the Tufts
Center for Neuroscience Research NINDS P30 NS047243 (to FRJ). We thank K
Miczek, I Quadros, J Newman, K Maguschak, L Reijmers, M Rios and members
of the Jacob laboratory for helpful discussions, R Walikonis for
generously taking time to instruct us in the preparation of postsynaptic
density fractions, and S Sinha and K Chin for assistance with some
preliminary experiments.
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NR 75
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD OCT
PY 2014
VL 19
IS 10
BP 1133
EP 1142
DI 10.1038/mp.2014.61
PG 10
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AR5ZN
UT WOS:000343661700013
PM 24934177
ER
PT J
AU Pena, M
Arias, D
Dehaene-Lambertz, G
AF Pena, Marcela
Arias, Diana
Dehaene-Lambertz, Ghislaine
TI Gaze Following Is Accelerated in Healthy Preterm Infants
SO PSYCHOLOGICAL SCIENCE
LA English
DT Article
DE gaze following; facial expression; emotion; premature; experience;
social ability
ID BIOLOGICAL MOTION; LANGUAGE-ACQUISITION; VISUAL-ATTENTION; JOINT
ATTENTION; FULL-TERM; PREMATURE; AUTISM; CORTEX; EYE; AGE
AB Gaze following is an essential human communication cue that orients the attention of two interacting people to the same external object. This capability is robustly observed after 7 months of age in full-term infants. Do healthy preterm infants benefit from their early exposure to face-to-face interactions with other humans to acquire this capacity sooner than full-term infants of the same chronological age, despite their immature brains? In two different experiments, we demonstrated that 7-month-old preterm infants performed like 7-month-old full-term infants (with whom they shared the same chronological age) and not like 4-month-old full-term infants (with whom they shared the same postmenstrual age). The duration of exposure to visual experience thus appears to have a greater impact on the development of early gaze following than does postmenstrual age.
C1 [Pena, Marcela; Arias, Diana] Pontificia Univ Catolica Chile, Lab Neurociencias Cognit, Escuela Psicol, Macul, Santiago De Chi, Chile.
[Dehaene-Lambertz, Ghislaine] INSERM, U992, Cognit Neuroimaging Unit, Gif Sur Yvette, France.
[Dehaene-Lambertz, Ghislaine] Commissariat Energie Atom, DSV I2BM, NeuroSpin Ctr, Gif Sur Yvette, France.
[Dehaene-Lambertz, Ghislaine] Univ Paris 11, Cognit Neuroimaging Unit, Paris, France.
RP Pena, M (reprint author), Pontificia Univ Catolica Chile, Lab Neurociencias Cognit, Ave Vicuna Mackenna 4860, Macul, Santiago De Chi, Chile.
EM mpenag@uc.cl
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NR 38
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0956-7976
EI 1467-9280
J9 PSYCHOL SCI
JI Psychol. Sci.
PD OCT
PY 2014
VL 25
IS 10
BP 1884
EP 1892
DI 10.1177/0956797614544307
PG 9
WC Psychology, Multidisciplinary
SC Psychology
GA AR8YX
UT WOS:000343858200005
PM 25125427
ER
PT J
AU Figura, MG
Coppola, A
Bottitta, M
Calabrese, G
Grillo, L
Luciano, D
Del Gaudio, L
Torniero, C
Striano, S
Elia, M
AF Figura, Maria Grazia
Coppola, Antonietta
Bottitta, Maria
Calabrese, Giuseppe
Grillo, Lucia
Luciano, Daniela
Del Gaudio, Luigi
Torniero, Claudia
Striano, Salvatore
Elia, Maurizio
TI Seizures and EEG pattern in the 22q13.3 deletion syndrome: Clinical
report of six Italian cases
SO SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
LA English
DT Article
DE 22q13.3 deletion syndrome; SHANK3; EEG; Seizures
ID CHROMOSOME 22Q13.3; AUTISM SPECTRUM; CEREBELLAR; EPILEPSY; SPEECH
AB Purpose: The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a rare genetic disorder characterized by hypotonia, severely impaired development of speech and language, autistic-like behaviour, and minor dysmorphic features. Neurologic problems may include seizures of different types, such as febrile, generalized tonic-clonic, focal, and absence seizures. No peculiar EEG features have been associated with 22q13 deletion syndrome to date. In order to verify if a peculiar clinical and EEG pattern is present in 22q13.3 deletion syndrome, we studied six Italian patients with this chromosome abnormality.
Method: Array CGH analysis was carried out in the six subjects (1 male, 5 females, age range 11-30 years, median 19.5). They underwent a complete general and neurologic examinations. The EEG study consisted of at least one awake and one nap-sleep video-EEG recordings and evaluation of other EEGs performed elsewhere.
Results: Three subjects suffered from myoclonic or generalized tonic-clonic seizures with a rather benign course; all showed multifocal paroxysmal abnormalities on EEG recording, predominant over the frontal-temporal regions, activated during sleep.
Conclusion: 22q13.3 deletion syndrome seems to be associated, at least in a subgroup of patients, with a peculiar clinical and EEG pattern, characterized by a childhood epilepsy with a rather benign evolution and with multifocal paroxysmal EEG abnormalities activated by sleep. (c) 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.
C1 [Figura, Maria Grazia; Bottitta, Maria; Calabrese, Giuseppe; Elia, Maurizio] Oasi Inst Res Mental Retardat & Brain Aging IRCCS, Unit Neurol & Clin Neurophysiopathol, I-94018 Troina, EN, Italy.
[Coppola, Antonietta; Del Gaudio, Luigi; Striano, Salvatore] Univ Naples Federico II, Epilepsy Ctr, Dept Neurol, Naples, Italy.
[Grillo, Lucia; Luciano, Daniela] Oasi Inst Res Mental Retardat & Brain Aging IRCCS, Lab Genet Diag, I-94018 Troina, EN, Italy.
[Torniero, Claudia] Univ Padua, Dept Womens & Childrens Hlth, Padua, Italy.
RP Elia, M (reprint author), Oasi Inst Res Mental Retardat & Brain Aging IRCCS, Unit Neurol & Clin Neurophysiopathol, Via Conte Ruggero 73, I-94018 Troina, EN, Italy.
EM melia@oasi.en.it
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NR 27
TC 0
Z9 0
PU W B SAUNDERS CO LTD
PI LONDON
PA 32 JAMESTOWN RD, LONDON NW1 7BY, ENGLAND
SN 1059-1311
EI 1532-2688
J9 SEIZURE-EUR J EPILEP
JI Seizure
PD OCT
PY 2014
VL 23
IS 9
BP 774
EP 779
DI 10.1016/j.seizure.2014.06.008
PG 6
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AR8QH
UT WOS:000343839200017
PM 25027555
ER
PT J
AU de Wit, J
Ghosh, A
AF de Wit, Joris
Ghosh, Anirvan
TI Control of neural circuit formation by leucine-rich repeat proteins
SO TRENDS IN NEUROSCIENCES
LA English
DT Review
DE synaptogenesis; synaptic adhesion; excitation/inhibition balance;
connectivity; synaptic transmission; glutamate receptor
ID EXCITATORY SYNAPSE FORMATION; AUTISM SPECTRUM DISORDERS; ADHESION-LIKE
MOLECULES; TYROSINE-PHOSPHATASE DELTA; ALPHA-LATROTOXIN RECEPTOR; ONSET
ALZHEIMERS-DISEASE; DE-NOVO MUTATIONS; CELL-ADHESION; TRANSMEMBRANE
PROTEINS; TRANSSYNAPTIC INTERACTION
AB The function of neural circuits depends on the precise connectivity between populations of neurons. Increasing evidence indicates that disruptions in excitatory or inhibitory synapse formation or function lead to excitation/inhibition (E/I) imbalances and contribute to neurodevelopmental and psychiatric disorders. Leucine-rich repeat (LRR)-containing surface proteins have emerged as key organizers of excitatory and inhibitory synapses. Distinct LRR proteins are expressed in different cell types and interact with key pre- and postsynaptic proteins. These protein interaction networks allow LRR proteins to coordinate pre- and postsynaptic elements during synapse formation and differentiation, pathway-specific synapse development, and synaptic plasticity. LRR proteins, therefore, play a critical role in organizing synaptic connections into functional neural circuits, and their dysfunction may contribute to neuropsychiatric disorders.
C1 [de Wit, Joris] VIB Ctr Biol Dis, B-3000 Leuven, Belgium.
[de Wit, Joris] Katholieke Univ Leuven, Ctr Human Genet, B-3000 Leuven, Belgium.
[Ghosh, Anirvan] F Hoffmann La Roche & Cie AG, Neurosci Discovery, CH-4070 Basel, Switzerland.
RP de Wit, J (reprint author), VIB Ctr Biol Dis, B-3000 Leuven, Belgium.
EM joris.dewit@cme.vib-kuleuven.be
FU ERC Starting Grant [311083]; FWO Odysseus Grant; NIH [R01NS067216]
FX Work in the authors' labs on LRR proteins is supported by an ERC
Starting Grant (#311083) and FWO Odysseus Grant (J.d.W.), and NIH grant
R01NS067216 (A.G.).
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NR 123
TC 1
Z9 1
PU ELSEVIER SCIENCE LONDON
PI LONDON
PA 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND
SN 0166-2236
J9 TRENDS NEUROSCI
JI Trends Neurosci.
PD OCT
PY 2014
VL 37
IS 10
BP 539
EP 550
DI 10.1016/j.tins.2014.07.004
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AR8RM
UT WOS:000343842200005
PM 25131359
ER
PT J
AU Coderre, EL
Fisher, Z
Gordon, B
Ledoux, K
AF Coderre, Emily L.
Fisher, Zachary
Gordon, Barry
Ledoux, Kerry
TI Electrophysiological Measurements of Letter-Sound Correspondence in a
Low-Functioning Individual with Autism
SO ANNALS OF NEUROLOGY
LA English
DT Meeting Abstract
CT 43rd Annual Meeting of the Child-Neurology-Society
CY OCT 22-25, 2014
CL Columbus, OH
SP Child Neurol Soc
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0364-5134
EI 1531-8249
J9 ANN NEUROL
JI Ann. Neurol.
PD OCT
PY 2014
VL 76
SU 18
SI SI
MA S102
BP S22
EP S22
DI 10.1002/ana.24247
PG 1
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AR7NL
UT WOS:000343766400002
ER
PT J
AU Gabis, LV
Cohen, EG
Leon, O
Raz, R
AF Gabis, L., V
Cohen, E. G.
Leon, O.
Raz, R.
TI Survey of Psychopharmacological Treatment in Children with Autism
Spectrum Disorder Compared to General Pediatric Population in Israel
SO ANNALS OF NEUROLOGY
LA English
DT Meeting Abstract
CT 43rd Annual Meeting of the Child-Neurology-Society
CY OCT 22-25, 2014
CL Columbus, OH
SP Child Neurol Soc
DE Case studies/case series
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0364-5134
EI 1531-8249
J9 ANN NEUROL
JI Ann. Neurol.
PD OCT
PY 2014
VL 76
SU 18
SI SI
MA 18
BP S185
EP S185
PG 1
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AR7NL
UT WOS:000343766400427
ER
PT J
AU Gabis, LV
Amir, BC
Leon, O
Vusicker, Y
Shefer, S
AF Gabis, L., V
Amir, B. C.
Leon, O.
Vusicker, Y.
Shefer, S.
TI Prediction of Intellectual Impairment by Developmental Assessments in
Children with Autism Spectrum Disorder Compared to Globally Delayed
Children
SO ANNALS OF NEUROLOGY
LA English
DT Meeting Abstract
CT 43rd Annual Meeting of the Child-Neurology-Society
CY OCT 22-25, 2014
CL Columbus, OH
SP Child Neurol Soc
DE Case studies/case series
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0364-5134
EI 1531-8249
J9 ANN NEUROL
JI Ann. Neurol.
PD OCT
PY 2014
VL 76
SU 18
SI SI
MA 19
BP S185
EP S185
PG 1
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AR7NL
UT WOS:000343766400428
ER
PT J
AU Golla, S
Sirsi, D
Evans, PA
Arnold, ST
AF Golla, S.
Sirsi, D.
Evans, P. A.
Arnold, S. T.
TI Evolution of EEG Findings in Children with Autism
SO ANNALS OF NEUROLOGY
LA English
DT Meeting Abstract
CT 43rd Annual Meeting of the Child-Neurology-Society
CY OCT 22-25, 2014
CL Columbus, OH
SP Child Neurol Soc
DE Case studies/case series; Epilepsy and other paroxysmal disorders
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0364-5134
EI 1531-8249
J9 ANN NEUROL
JI Ann. Neurol.
PD OCT
PY 2014
VL 76
SU 18
SI SI
MA 29
BP S189
EP S189
PG 1
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AR7NL
UT WOS:000343766400438
ER
PT J
AU Jeong, JW
Kumar, A
Behen, M
Ashah, R
Chugani, HT
Chugani, DC
AF Jeong, J. W.
Kumar, A.
Behen, M.
Ashah, R.
Chugani, H. T.
Chugani, D. C.
TI Whole Brain Connectivity Pattern Can Differentiate Between High and
Low-Functioning Children With Autism Spectrum Disorder: a brain
connectome study
SO ANNALS OF NEUROLOGY
LA English
DT Meeting Abstract
CT 43rd Annual Meeting of the Child-Neurology-Society
CY OCT 22-25, 2014
CL Columbus, OH
SP Child Neurol Soc
DE Neuroimaging
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0364-5134
EI 1531-8249
J9 ANN NEUROL
JI Ann. Neurol.
PD OCT
PY 2014
VL 76
SU 18
SI SI
MA 25
BP S187
EP S187
PG 1
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AR7NL
UT WOS:000343766400434
ER
PT J
AU Ledoux, K
Fisher, Z
Kuo, S
Gordon, B
AF Ledoux, Kerry
Fisher, Zachary
Kuo, Sharon
Gordon, Barry
TI Using Mismatch Negativity to Study Speech Perception in a
Low-Functioning Individual with Autism
SO ANNALS OF NEUROLOGY
LA English
DT Meeting Abstract
CT 43rd Annual Meeting of the Child-Neurology-Society
CY OCT 22-25, 2014
CL Columbus, OH
SP Child Neurol Soc
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0364-5134
EI 1531-8249
J9 ANN NEUROL
JI Ann. Neurol.
PD OCT
PY 2014
VL 76
SU 18
SI SI
MA S110
BP S24
EP S24
PG 1
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AR7NL
UT WOS:000343766400010
ER
PT J
AU Mintz, M
Chadehumbe, M
Barabas, R
McKernan, K
Boles, RG
Marks, H
Stanley, C
Zare, A
AF Mintz, M.
Chadehumbe, M.
Barabas, R.
McKernan, K.
Boles, R. G.
Marks, H.
Stanley, C.
Zare, A.
TI The Clinical Utility of Relevant Exome Panels for Autism Spectrum
Disorders and Intellectual Disabilities
SO ANNALS OF NEUROLOGY
LA English
DT Meeting Abstract
CT 43rd Annual Meeting of the Child-Neurology-Society
CY OCT 22-25, 2014
CL Columbus, OH
SP Child Neurol Soc
DE Epilepsy and other paroxysmal disorders; genetics
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0364-5134
EI 1531-8249
J9 ANN NEUROL
JI Ann. Neurol.
PD OCT
PY 2014
VL 76
SU 18
SI SI
MA 174
BP S246
EP S246
PG 1
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AR7NL
UT WOS:000343766400582
ER
PT J
AU Pardo, CA
Thurm, A
Farmer, C
Shebl, F
Swedo, S
AF Pardo, Carlos A.
Thurm, Audrey
Farmer, Cristan
Shebl, Fatma
Swedo, Susan
TI Immune Disarrangements in Autism Spectrum Disorders (ASD) Are Associated
with Homeostatic Mechanisms Rather Than Pathogenic Inflammation
SO ANNALS OF NEUROLOGY
LA English
DT Meeting Abstract
CT 43rd Annual Meeting of the Child-Neurology-Society
CY OCT 22-25, 2014
CL Columbus, OH
SP Child Neurol Soc
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0364-5134
EI 1531-8249
J9 ANN NEUROL
JI Ann. Neurol.
PD OCT
PY 2014
VL 76
SU 18
SI SI
MA S908
BP S73
EP S73
PG 1
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AR7NL
UT WOS:000343766400185
ER
PT J
AU Sung, K
Bosley, LV
Fisher, ZF
Gordon, B
AF Sung, Kyongje
Bosley, Laura V.
Fisher, Zachary F.
Gordon, Barry
TI Abnormal Visual ERPs and alpha Band Power in Low- and High-Functioning
Individuals with Autism
SO ANNALS OF NEUROLOGY
LA English
DT Meeting Abstract
CT 43rd Annual Meeting of the Child-Neurology-Society
CY OCT 22-25, 2014
CL Columbus, OH
SP Child Neurol Soc
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0364-5134
EI 1531-8249
J9 ANN NEUROL
JI Ann. Neurol.
PD OCT
PY 2014
VL 76
SU 18
SI SI
MA S909
BP S73
EP S74
PG 2
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AR7NL
UT WOS:000343766400186
ER
PT J
AU van Steenburgh, JJ
Varvaris, M
Vannorsdall, TD
Schretlen, DJ
Gordon, B
AF van Steenburgh, J. Jason
Varvaris, Mark
Vannorsdall, Tracy D.
Schretlen, David J.
Gordon, Barry
TI Transcranial Direct Current Stimulation Enhances Functional Connectivity
in High-Functioning Individuals with Autism
SO ANNALS OF NEUROLOGY
LA English
DT Meeting Abstract
CT 43rd Annual Meeting of the Child-Neurology-Society
CY OCT 22-25, 2014
CL Columbus, OH
SP Child Neurol Soc
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0364-5134
EI 1531-8249
J9 ANN NEUROL
JI Ann. Neurol.
PD OCT
PY 2014
VL 76
SU 18
SI SI
MA S118
BP S26
EP S26
PG 1
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AR7NL
UT WOS:000343766400018
ER
PT J
AU Vasconcelos, MM
Brito, AR
Vairo, GT
Dias, AH
Olej, B
Gusmao, TB
Serpa, L
Resende, MC
Vasconcelos, LA
Faleiros, LO
Silva, JM
Nascimento, OM
AF Vasconcelos, M. M.
Brito, A. R.
Vairo, G. T.
Dias, A. H.
Olej, B.
Gusmao, T. B.
Serpa, L.
Resende, M. C.
Vasconcelos, L. A.
Faleiros, L. O.
Silva, J. M.
Nascimento, O. M.
TI Steroid Treatment for Autism Spectrum Disorder: results from the CAST
(corticosteroids for autism - a scientific trial) study
SO ANNALS OF NEUROLOGY
LA English
DT Meeting Abstract
CT 43rd Annual Meeting of the Child-Neurology-Society
CY OCT 22-25, 2014
CL Columbus, OH
SP Child Neurol Soc
DE Translational/experimental therapeutics
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0364-5134
EI 1531-8249
J9 ANN NEUROL
JI Ann. Neurol.
PD OCT
PY 2014
VL 76
SU 18
SI SI
MA 31
BP S189
EP S190
PG 2
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AR7NL
UT WOS:000343766400440
ER
PT J
AU Wagle, MR
Holder, JL
AF Wagle, M. R.
Holder, J. L.
TI Exonic Deletion of SLC9A9 in Autism with Epilepsy
SO ANNALS OF NEUROLOGY
LA English
DT Meeting Abstract
CT 43rd Annual Meeting of the Child-Neurology-Society
CY OCT 22-25, 2014
CL Columbus, OH
SP Child Neurol Soc
DE Case studies/case series; Epilepsy and other paroxysmal disorders;
Genetics
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0364-5134
EI 1531-8249
J9 ANN NEUROL
JI Ann. Neurol.
PD OCT
PY 2014
VL 76
SU 18
SI SI
MA 152
BP S238
EP S238
PG 1
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AR7NL
UT WOS:000343766400560
ER
PT J
AU Wu, SW
Pedapati, EV
Shahana, N
Huddleston, DA
Laue, CS
Gilbert, DL
AF Wu, S. W.
Pedapati, E., V
Shahana, N.
Huddleston, D. A.
Laue, C. S.
Gilbert, D. L.
TI Abnormal Neurophysiologic Motor Cortex Plasticity in Children and
Adolescents with Autism Spectrum Disorders
SO ANNALS OF NEUROLOGY
LA English
DT Meeting Abstract
CT 43rd Annual Meeting of the Child-Neurology-Society
CY OCT 22-25, 2014
CL Columbus, OH
SP Child Neurol Soc
DE Translational/experimental therapeutics
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0364-5134
EI 1531-8249
J9 ANN NEUROL
JI Ann. Neurol.
PD OCT
PY 2014
VL 76
SU 18
SI SI
MA 33
BP S190
EP S190
PG 1
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AR7NL
UT WOS:000343766400442
ER
PT J
AU Weeks, S
Grimmer, K
Boshoff, K
Stewart, H
AF Weeks, Scott
Grimmer, Karen
Boshoff, Kobie
Stewart, Hugh
TI Conducting robust intervention trials to address the sensory needs of
children with autism spectrum disorder: design challenges in an
Australian context
SO BRITISH JOURNAL OF OCCUPATIONAL THERAPY
LA English
DT Article
DE Autism spectrum disorder; sensory processing; sensory integration;
randomized controlled trial
ID OCCUPATIONAL-THERAPY; PEDRO; CARE
AB Many occupational therapists administer sensory interventions to address the needs of children with autism spectrum disorder. However, the current evidence regarding the effectiveness of sensory interventions is inconclusive, resulting in calls for more robust testing through randomized controlled trials. Our initial research plan was to conduct a randomized controlled trial that had real-world applications for occupational therapists and children diagnosed with autism spectrum disorder. However, as we conceptualized this study, we identified many uncertainties regarding the criteria required for a robust trial. In this opinion piece we describe and discuss the challenges we encountered when designing a community-clinic-based effectiveness study in an Australian context.
C1 [Weeks, Scott; Grimmer, Karen; Boshoff, Kobie; Stewart, Hugh] Univ S Australia, Int Ctr Allied Hlth Evidence iCAHE, Adelaide, SA 5001, Australia.
RP Weeks, S (reprint author), Univ S Australia, Int Ctr Allied Hlth Evidence iCAHE, GPO Box 2471, Adelaide, SA 5001, Australia.
EM scott.weeks@unisa.edu.au
RI Grimmer, Karen/F-3984-2013
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NR 18
TC 0
Z9 0
PU COLL OCCUPATIONAL THERAPISTS LTD
PI SOUTHWARK
PA 106-114 BOROUGH HIGH ST, SOUTHWARK, LONDON SE1 1LB, ENGLAND
SN 0308-0226
EI 1477-6006
J9 BRIT J OCCUP THER
JI Br. J. Occup. Ther.
PD OCT
PY 2014
VL 77
IS 10
BP 533
EP 535
DI 10.4276/030802214X14122630932557
PG 3
WC Rehabilitation
SC Rehabilitation
GA AR5IQ
UT WOS:000343619000010
ER
PT J
AU Haas, BW
Barnea-Goraly, N
Sheau, KE
Yamagata, B
Ullas, S
Reiss, AL
AF Haas, Brian W.
Barnea-Goraly, Naama
Sheau, Kristen E.
Yamagata, Bun
Ullas, Shruti
Reiss, Allan L.
TI Altered Microstructure Within Social-Cognitive Brain Networks During
Childhood in Williams Syndrome
SO CEREBRAL CORTEX
LA English
DT Article
DE DTI; genetics; social cognition; Williams syndrome
ID AUTISM SPECTRUM DISORDERS; DIFFUSION TENSOR TRACTOGRAPHY;
FRONTO-OCCIPITAL FASCICULUS; HUMAN ORBITOFRONTAL CORTEX; WHITE-MATTER
INTEGRITY; FRACTIONAL ANISOTROPY; IMAGING TRACTOGRAPHY; ATYPICAL
DEVELOPMENT; PROBABILISTIC ATLAS; ANATOMIC DISSECTION
AB Williams syndrome (WS) is a neurodevelopmental condition caused by a hemizygous deletion of similar to 26-28 genes on chromosome 7q11.23. WS is associated with a distinctive pattern of social cognition. Accordingly, neuroimaging studies show that WS is associated with structural alterations of key brain regions involved in social cognition during adulthood. However, very little is currently known regarding the neuroanatomical structure of social cognitive brain networks during childhood in WS. This study used diffusion tensor imaging to investigate the structural integrity of a specific set of white matter pathways (inferior fronto-occipital fasciculus [IFOF] and uncinate fasciculus [UF]) and associated brain regions [fusiform gyrus (FG), amygdala, hippocampus, medial orbitofrontal gyrus (MOG)] known to be involved in social cognition in children with WS and a typically developing (TD) control group. Children with WS exhibited higher fractional anisotropy (FA) and axial diffusivity values and lower radial diffusivity and apparent diffusion coefficient (ADC) values within the IFOF and UF, higher FA values within the FG, amygdala, and hippocampus and lower ADC values within the FG and MOG compared to controls. These findings provide evidence that the WS genetic deletion affects the development of key white matter pathways and brain regions important for social cognition.
C1 [Haas, Brian W.] Univ Georgia, Dept Psychol, Athens, GA 30602 USA.
[Haas, Brian W.; Barnea-Goraly, Naama; Sheau, Kristen E.; Yamagata, Bun; Reiss, Allan L.] Stanford Univ, Sch Med, CIBSR, Palo Alto, CA 94304 USA.
[Haas, Brian W.; Barnea-Goraly, Naama; Sheau, Kristen E.; Yamagata, Bun] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Palo Alto, CA 94304 USA.
[Ullas, Shruti] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90095 USA.
[Reiss, Allan L.] Stanford Univ, Sch Med, Dept Radiol, Stanford, CA 94305 USA.
[Reiss, Allan L.] Stanford Univ, Sch Med, Dept Pediat, Stanford, CA 94305 USA.
RP Haas, BW (reprint author), Univ Georgia, Dept Psychol, Athens, GA 30602 USA.
EM bhaas@uga.edu
FU Child Health Research Program, Stanford University School of Medicine,
Pediatric Research Fund Award; [T32 MH19908]
FX This study was supported by T32 MH19908 and by a Child Health Research
Program, Stanford University School of Medicine, Pediatric Research Fund
Award.
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NR 122
TC 2
Z9 3
PU OXFORD UNIV PRESS INC
PI CARY
PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA
SN 1047-3211
EI 1460-2199
J9 CEREB CORTEX
JI Cereb. Cortex
PD OCT
PY 2014
VL 24
IS 10
BP 2796
EP 2806
DI 10.1093/cercor/bht135
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AR2IT
UT WOS:000343408200024
PM 23709644
ER
PT J
AU Portfors, CV
Perkel, DJ
AF Portfors, Christine V.
Perkel, David J.
TI The role of ultrasonic vocalizations in mouse communication
SO CURRENT OPINION IN NEUROBIOLOGY
LA English
DT Article
ID MICE MUS-MUSCULUS; REDUCED SOCIAL-INTERACTION; FEMALE MICE; HOUSE MICE;
VOCAL COMMUNICATION; BEHAVIOR; RECOGNITION; AUTISM; MODEL; EXPERIENCE
AB Human speech and language underlie many aspects of social behavior and thus understanding their ultimate evolutionary function and proximate genetic and neural mechanisms is a fundamental goal in neuroscience. Mouse ultrasonic vocalizations have recently received enormous attention as possible models for human speech. This attention has raised the question of whether these vocalizations are learned and what roles they play in communication. In this review, we first discuss recent evidence that ultrasonic vocalizations are not learned. We then review current evidence addressing how adult vocalizations may communicate courtship, territorial and/or other information. While there is growing evidence that these signals play key roles in communication, many important questions remain unanswered.
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[Perkel, David J.] Univ Washington, Dept Biol, Seattle, WA 98195 USA.
[Perkel, David J.] Univ Washington, Dept Otolaryngol, Seattle, WA 98195 USA.
RP Portfors, CV (reprint author), Washington State Univ, Sch Biol Sci, Vancouver, WA 98686 USA.
EM Portfors@vancouver.wsu.edu
FU NSF IOS [1257768]; NIH [R01 MH066128]
FX This work was supported by NSF IOS 1257768 to CVP and NIH R01 MH066128
to DJP.
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NR 63
TC 3
Z9 3
PU CURRENT BIOLOGY LTD
PI LONDON
PA 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND
SN 0959-4388
EI 1873-6882
J9 CURR OPIN NEUROBIOL
JI Curr. Opin. Neurobiol.
PD OCT
PY 2014
VL 28
BP 115
EP 120
DI 10.1016/j.conb.2014.07.002
PG 6
WC Neurosciences
SC Neurosciences & Neurology
GA AR1RT
UT WOS:000343363000020
PM 25062471
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SO JOURNAL OF ADOLESCENCE
LA English
DT Article
DE Smoking; Alcohol; Drug use; Substance use; Mental disorders; Adolescent
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY
DISORDER; SUBSTANCE USE; SOCIOECONOMIC-STATUS; MENTAL-HEALTH;
YOUNG-PEOPLE; ANXIETY DISORDERS; CIGARETTE-SMOKING; CANNABIS USE;
DEPENDENCE
AB This study investigated frequencies of smoking, alcohol use, and illicit drug use by diagnostic category in 566 adolescent psychiatric patients, comparing this sample with 8173 adolescents from the general population in Norway who completed the Young-HUNT 3 survey. Frequencies of current alcohol use were high in both samples but were lower among psychiatric patients. Compared with adolescents in the general population, adolescents in the clinical sample had a higher prevalence of current smoking and over four times higher odds of having tried illicit drugs. In the clinical sample, those with mood disorders reported the highest frequencies of smoking, alcohol use, and illicit drug use, whereas those with autism spectrum disorders reported the lowest frequencies. Our results show an increased prevalence of risky health behaviors among adolescents with psychiatric disorders compared with the general population. The awareness of disorder-specific patterns of smoking and substance use may guide preventive measures. (C) 2014 The Authors. Published by Elsevier Ltd on behalf of The Foundation for Professionals in Services for Adolescents. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
C1 [Mangerud, Wenche Langfjord; Lydersen, Stian; Indredavik, Marit Saebo] Norwegian Univ Sci & Technol, Reg Ctr Child & Youth Mental Hlth & Child Welf, Fac Med, MTFS, N-7491 Trondheim, Norway.
[Bjerkeset, Ottar] Nord Trandelag Univ Coll HiNT, Fac Hlth Sci, N-7601 Levanger, Norway.
[Bjerkeset, Ottar] Norwegian Univ Sci & Technol, Dept Neurosci, Fac Med, N-7489 Trondheim, Norway.
[Holmen, Turid Lingaas] Norwegian Univ Sci & Technol, Dept Publ Hlth & Gen Practice, HUNT Res Ctr, Fac Med, N-7600 Levanger, Norway.
[Indredavik, Marit Saebo] St Olavs Univ Hosp, Dept Child & Adolescent Psychiat, N-7433 Trondheim, Norway.
RP Mangerud, WL (reprint author), Norwegian Univ Sci & Technol, Reg Ctr Child & Youth Mental Hlth & Child Welf, Fac Med, MTFS, Pb 8905, N-7491 Trondheim, Norway.
EM wenche.l.mangerud@ntnu.no; ottar.bjerkeset@ntnu.no;
turid.lingaas.holmen@ntnu.no; stian.lydersen@ntnu.no;
marit.s.indredavik@ntnu.no
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WHO, 2011, GLOB STAT REP ALC HL
Windle R, 2005, RECENT DEV ALCOHOLIS, V17
World Health Organisation, 1992, ICD 10 CLASS MENT BE
World Health Organization, 2011, WHO REP GLOB TOB EP
NR 58
TC 0
Z9 0
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 0140-1971
EI 1095-9254
J9 J ADOLESCENCE
JI J. Adolesc.
PD OCT
PY 2014
VL 37
IS 7
BP 1189
EP 1199
DI 10.1016/j.adolescence.2014.08.007
PG 11
WC Psychology, Developmental
SC Psychology
GA AR2AZ
UT WOS:000343387000024
PM 25190498
ER
PT J
AU Schmidt, RJ
Crary, F
Iosif, AM
Dienes, JE
LaSalle, JM
AF Schmidt, R. J.
Crary, F.
Iosif, A. M.
Dienes, J. E.
LaSalle, J. M.
TI Periconceptional Folic Acid-Containing Supplements and LINE-1 DNA
Methylation in the MARBLES Prospective Study of Autism Spectrum Disorder
SO JOURNAL OF WOMENS HEALTH
LA English
DT Meeting Abstract
C1 [Schmidt, R. J.; Crary, F.; Iosif, A. M.; Dienes, J. E.; LaSalle, J. M.] Univ Calif Davis, Davis, CA 95616 USA.
[Schmidt, R. J.; Crary, F.; Iosif, A. M.; LaSalle, J. M.] MIND Inst, Sacramento, CA USA.
NR 0
TC 0
Z9 0
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1540-9996
EI 1931-843X
J9 J WOMENS HEALTH
JI J. Womens Health
PD OCT 1
PY 2014
VL 23
IS 10
MA O-7
BP 876
EP 877
PG 2
WC Public, Environmental & Occupational Health; Medicine, General &
Internal; Obstetrics & Gynecology; Women's Studies
SC Public, Environmental & Occupational Health; General & Internal
Medicine; Obstetrics & Gynecology; Women's Studies
GA AR0DT
UT WOS:000343237900101
ER
PT J
AU Pisula, W
Pisula, E
AF Pisula, Wojciech
Pisula, Ewa
TI Autism prevalence and meat consumption - A hypothesis that needs to be
tested*
SO MEDICAL HYPOTHESES
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM; POPULATION; CHILDREN;
UPDATE; COHORT; UK
AB Prevalence of ASD seems to have increase in recent decades. There have been many attempts to find the responsible agent at various levels, from genetics to environmental factors. In this paper we draw attention to the possibility that one of the hidden agents spurring the rise in autism prevalence is to be identified within the industrial system of food production, particularly meat production with special emphasis on poultry meat. The paper presents some exploratory analyses demonstrating the correlation between particular aspects of meat consumption and autism prevalence. This initial exploration has lead to the hypothesis that industrial meat production - especially of poultry meat - may involve significant risk factors requiring thorough investigation. The main suspects seem to be hormonal and other growthpromoting agents
C1 [Pisula, Wojciech] Polish Acad Sci, Inst Psychol, Warsaw, Poland.
[Pisula, Ewa] Univ Warsaw, Fac Psychol, Warsaw, Poland.
RP Pisula, W (reprint author), Polish Acad Sci, Inst Psychol, Warsaw, Poland.
EM wojciech.pisula@wp.pl
FU National Science Center in Poland [UMO-2011/03/B/HS6/03326]
FX This paper was funded by the project of the National Science Center in
Poland, #UMO-2011/03/B/HS6/03326.
CR American Psychiatric Association, 2013, DSM 5
[Anonymous], 2002, MAN INT STAT CLASS D
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Taylor B, 2013, BMJ OPEN, V3, DOI 10.1136/bmjopen-2013-003219
ZHOU SS, 2013, AUTISM RES TREAT, V2013, P12976
NR 25
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 OCT
PY 2014
VL 83
IS 4
BP 488
EP 493
DI 10.1016/j.mehy.2014.08.007
PG 6
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AR1KR
UT WOS:000343344600011
PM 25169037
ER
PT J
AU Srivastava, S
Cohen, JS
Vernon, H
Baranano, K
McClellan, R
Jamal, L
Naidu, S
Fatemi, A
AF Srivastava, Siddharth
Cohen, Julie S.
Vernon, Hilary
Baranano, Kristin
McClellan, Rebecca
Jamal, Leila
Naidu, SakkuBai
Fatemi, Ali
TI Clinical Whole Exome Sequencing in Child Neurology Practice
SO ANNALS OF NEUROLOGY
LA English
DT Article
ID DE-NOVO MUTATIONS; INTELLECTUAL DISABILITY; GENETIC EVALUATION;
DISORDERS; RECOMMENDATIONS; AUTISM
AB Objective: Whole exome sequencing (WES) represents a significant breakthrough in clinical genetics as a powerful tool for etiological discovery in neurodevelopmental disorders. To better characterize the genetic landscape of neurodevelopmental disorders, we analyzed patients in our pediatric neurogenetics clinic who underwent WES.
Methods: We performed a retrospective cohort study on 78 patients with various neurodevelopmental disabilities and unrevealing workup prior to WES. We characterized their molecular diagnoses, clinical features, and whether their previous treatment plan changed due to WES results.
Results: The overall presumptive diagnostic rate for our cohort was 41% (n=32 of 78 patients). Nineteen patients had a single autosomal dominant (AD) disorder, 11 had a single autosomal recessive (AR) disorder, 1 had an X-linked dominant disorder, and 1 had both an AD and an AR disorder. The 32 patients with pathogenic or likely pathogenic variants exhibited various neurobehavioral and neuroimaging abnormalities, including intellectual disability/ developmental delay (n=28), cerebral palsy-like encephalopathy (n=11), autism spectrum disorder (n=5), delayed/ hypomyelination (n=7), and cerebellar abnormalities (n=9). The results of WES affected management for all patients with a presumptive diagnosis, triggering reproductive planning (n=27), disease monitoring initiation (n=4), investigation of systemic involvement of the disorder(s) (n=6), alteration of presumed disease inheritance pattern (n=7), changing of prognosis (n=10), medication discontinuation (n=5) or initiation (n=2), and clinical trial education (n=3).
Interpretation: The high diagnostic yield of WES supports its use in pediatric neurology practices. It may also lead to earlier diagnosis, impacting medical management, prognostication, and family planning. WES therefore serves as a critical tool for the child neurologist.
C1 [Srivastava, Siddharth; Cohen, Julie S.; Baranano, Kristin; McClellan, Rebecca; Jamal, Leila; Naidu, SakkuBai; Fatemi, Ali] Kennedy Krieger Inst, Hugo W Moser Res Inst, Dept Neurogenet, Baltimore, MD 21205 USA.
[Vernon, Hilary] McKusick Nathans Inst Genet Med, Baltimore, MD USA.
[Baranano, Kristin; Naidu, SakkuBai; Fatemi, Ali] Johns Hopkins Sch Med, Dept Neurol, Baltimore, MD USA.
[Naidu, SakkuBai; Fatemi, Ali] Johns Hopkins Sch Med, Dept Pediat, Baltimore, MD USA.
RP Fatemi, A (reprint author), Kennedy Krieger Inst, Hugo W Moser Res Inst, 707 North Broadway,Room 500i, Baltimore, MD 21205 USA.
EM fatemi@kennedykrieger.org
CR ACMG Board of Directors, 2013, GENET MED, V15, P748
ACMG Board of Directors, 2012, GENET MED, V14, P759, DOI DOI 10.1038/GIM.2012.74
Allen AS, 2013, NATURE, V501, P217, DOI 10.1038/nature12439
Atwal PS, 2014, GENET MED, DOI 10.1038
de Ligt J, 2012, NEW ENGL J MED, V367, P1921, DOI 10.1056/NEJMoa1206524
de Munnik SA, 2014, EUR J HUM GENET, V22, P844, DOI 10.1038/ejhg.2013.249
Dixon-Salazar TJ, 2012, SCI TRANSL MED, V4, DOI 10.1126/scitranslmed.3003544
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Gahl WA, 2012, GENET MED, V14, P51, DOI 10.1038/gim.0b013e318232a005
Green RC, 2013, GENET MED, V15, P565, DOI 10.1038/gim.2013.73
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Yu TW, 2013, NEURON, V77, P259, DOI 10.1016/j.neuron.2012.11.002
NR 23
TC 8
Z9 8
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0364-5134
EI 1531-8249
J9 ANN NEUROL
JI Ann. Neurol.
PD OCT
PY 2014
VL 76
IS 4
BP 473
EP 483
DI 10.1002/ana.24251
PG 11
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AQ8FB
UT WOS:000343058400003
PM 25131622
ER
PT J
AU Torkamani, A
Bersell, K
Jorge, BS
Bjork, RL
Friedman, JR
Bloss, CS
Cohen, J
Gupta, S
Naidu, S
Vanoye, CG
George, AL
Kearney, JA
AF Torkamani, Ali
Bersell, Kevin
Jorge, Benjamin S.
Bjork, Robert L., Jr.
Friedman, Jennifer R.
Bloss, Cinnamon S.
Cohen, Julie
Gupta, Siddharth
Naidu, Sakkubai
Vanoye, Carlos G.
George, Alfred L., Jr.
Kearney, Jennifer A.
TI De Novo KCNB1 Mutations in Epileptic Encephalopathy
SO ANNALS OF NEUROLOGY
LA English
DT Article
ID NEOCORTICAL PYRAMIDAL NEURONS; DNA-SEQUENCING DATA; K+ CHANNEL;
POTASSIUM CHANNEL; INTELLECTUAL DISABILITY; GENETIC-VARIATION; ONSET
EPILEPSY; GENERATION; AUTISM; KV2.1
AB Objective: Numerous studies have demonstrated increased load of de novo copy number variants or single nucleotide variants in individuals with neurodevelopmental disorders, including epileptic encephalopathies, intellectual disability, and autism.
Methods: We searched for de novo mutations in a family quartet with a sporadic case of epileptic encephalopathy with no known etiology to determine the underlying cause using high-coverage whole exome sequencing (WES) and lower-coverage whole genome sequencing. Mutations in additional patients were identified by WES. The effect of mutations on protein function was assessed in a heterologous expression system.
Results: We identified a de novo missense mutation in KCNB1 that encodes the K(V)2.1 voltage-gated potassium channel. Functional studies demonstrated a deleterious effect of the mutation on K(V)2.1 function leading to a loss of ion selectivity and gain of a depolarizing inward cation conductance. Subsequently, we identified 2 additional patients with epileptic encephalopathy and de novo KCNB1 missense mutations that cause a similar pattern of K(V)2.1 dysfunction.
Interpretation: Our genetic and functional evidence demonstrate that KCNB1 mutation can result in early onset epileptic encephalopathy. This expands the locus heterogeneity associated with epileptic encephalopathies and suggests that clinical WES may be useful for diagnosis of epileptic encephalopathies of unknown etiology.
C1 [Torkamani, Ali; Bloss, Cinnamon S.] Scripps Hlth, Scripps Translat Sci Inst, San Diego, CA USA.
[Torkamani, Ali; Bloss, Cinnamon S.] Scripps Res Inst, San Diego, CA USA.
[Bersell, Kevin; George, Alfred L., Jr.] Vanderbilt Univ, Dept Pharmacol, Nashville, TN USA.
[Jorge, Benjamin S.] Vanderbilt Univ, Vanderbilt Brain Inst, Nashville, TN 37235 USA.
[Bjork, Robert L., Jr.] Scripps Hlth, Dept Pediat, San Diego, CA USA.
[Bjork, Robert L., Jr.] Sea Breeze Pediat, San Diego, CA USA.
[Friedman, Jennifer R.] Univ Calif San Diego, Dept Neurosci, San Diego, CA 92103 USA.
[Friedman, Jennifer R.] Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA.
[Cohen, Julie; Gupta, Siddharth; Naidu, Sakkubai] Kennedy Krieger Inst, Baltimore, MD USA.
[Gupta, Siddharth; Naidu, Sakkubai] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA.
[Vanoye, Carlos G.; George, Alfred L., Jr.; Kearney, Jennifer A.] Vanderbilt Univ, Dept Med, Nashville, TN USA.
[Vanoye, Carlos G.; George, Alfred L., Jr.; Kearney, Jennifer A.] Northwestern Univ, Dept Pharmacol, Feinberg Sch Med, Chicago, IL 60611 USA.
RP Kearney, JA (reprint author), Northwestern Univ, Dept Pharmacol, Searle 8-510,320 East Super St, Chicago, IL 60611 USA.
EM jennifer.kearney@northwestern.edu
FU Scripps Genomic Medicine, an NIH National Center for Advancing
Translational Sciences Clinical and Translational Science Award [5 UL1
RR025774]; Shaffer Family Foundation; Anne and Henry Zarrow Foundation;
NIH/NHGRI [U01 HG006476]; NIH/NINDS [R01 NS053792, R01 NS032387, F31
NS083097]
FX This work was supported by Scripps Genomic Medicine, an NIH National
Center for Advancing Translational Sciences Clinical and Translational
Science Award (5 UL1 RR025774) to Scripps Translational Science
Institute, as well as funding from the Shaffer Family Foundation and the
Anne and Henry Zarrow Foundation. Further support is from NIH/NHGRI U01
HG006476 (A.T.), NIH/NINDS R01 NS053792 (J.A.K.), NIH/NINDS R01 NS032387
(A.L.G.), and NIH/NINDS F31 NS083097 (B.S.J.).
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NR 39
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0364-5134
EI 1531-8249
J9 ANN NEUROL
JI Ann. Neurol.
PD OCT
PY 2014
VL 76
IS 4
BP 529
EP 540
DI 10.1002/ana.24263
PG 12
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AQ8FB
UT WOS:000343058400009
PM 25164438
ER
PT J
AU Pescosolido, MF
Stein, DM
Schmidt, M
El Achkar, CM
Sabbagh, M
Rogg, JM
Tantravahi, U
McLean, RL
Liu, JS
Poduri, A
Morrow, EM
AF Pescosolido, Matthew F.
Stein, David M.
Schmidt, Michael
El Achkar, Christelle Moufawad
Sabbagh, Mark
Rogg, Jeffrey M.
Tantravahi, Umadevi
McLean, Rebecca L.
Liu, Judy S.
Poduri, Annapurna
Morrow, Eric M.
TI Genetic and Phenotypic Diversity of NHE6 Mutations in Christianson
Syndrome
SO ANNALS OF NEUROLOGY
LA English
DT Article
ID DEFICIT HYPERACTIVITY DISORDER; LINKED MENTAL-RETARDATION; ANGELMAN-LIKE
SYNDROME; WIDE ASSOCIATION SCAN; SLC9A6 GENE; SODIUM/PROTON EXCHANGER;
NA+/H+ EXCHANGER; NATURAL-HISTORY; EPILEPSY; FAMILIES
AB Objective: Recently, Christianson syndrome (CS) has been determined to be caused by mutations in the X-linked Na+/H+ exchanger 6 (NHE6). We aimed to determine the diagnostic criteria and mutational spectrum for CS.
Methods: Twelve independent pedigrees (14 boys, age = 4-19 years) with mutations in NHE6 were administered standardized research assessments, and mutations were characterized.
Results: The mutational spectrum was composed of 9 single nucleotide variants, 2 indels, and 1 copy number variation deletion. All mutations were protein-truncating or splicing mutations. We identified 2 recurrent mutations (c. 1498 c>t, p.R500X; and c. 1710 g>a, p.W570X). Otherwise, all mutations were unique. In our study, 7 of 12 mutations (58%) were de novo, in contrast to prior literature wherein mutations were largely inherited. We also report prominent neurological, medical, and behavioral symptoms. All CS participants were nonverbal and had intellectual disability, epilepsy, and ataxia. Many had prior diagnoses of autism and/or Angelman syndrome. Other neurologic symptoms included eye movement abnormalities (79%), postnatal microcephaly (92%), and magnetic resonance imaging evidence of cerebellar atrophy (33%). Regression was noted in 50%, with recurrent presentations involving loss of words and/ or the ability to walk. Medical symptoms, particularly gastrointestinal symptoms, were common. Height and body mass index measures were below normal ranges in most participants. Behavioral symptoms included hyperkinetic behavior (100%), and a majority exhibited high pain threshold.
Interpretation: This is the largest cohort of independent CS pedigrees reported. We propose diagnostic criteria for CS. CS represents a novel neurogenetic disorder with general relevance to autism, intellectual disability, Angelman syndrome, epilepsy, and regression.
C1 [Pescosolido, Matthew F.; Stein, David M.; Schmidt, Michael; Sabbagh, Mark; Morrow, Eric M.] Brown Univ, Dept Mol Biol Cell Biol & Biochem, Providence, RI 02912 USA.
[Pescosolido, Matthew F.; Stein, David M.; Schmidt, Michael; Sabbagh, Mark; Morrow, Eric M.] Brown Univ, Mol Med Lab, Inst Brain Sci, Providence, RI 02912 USA.
[Pescosolido, Matthew F.; McLean, Rebecca L.; Morrow, Eric M.] Brown Univ, Emma Pendleton Bradley Hosp, Dev Disorders Genet Res Program, East Providence, RI USA.
[Pescosolido, Matthew F.; McLean, Rebecca L.; Morrow, Eric M.] Brown Univ, Dept Psychiat & Human Behav, Warren Alpert Med Sch, East Providence, RI USA.
[El Achkar, Christelle Moufawad; Poduri, Annapurna] Boston Childrens Hosp, Dept Neurol, Div Epilepsy & Child Neurophysiol, Epilepsy Genet Program, Boston, MA USA.
[Rogg, Jeffrey M.] Brown Univ, Warren Alpert Med Sch, Dept Diagnost Imaging, Providence, RI 02912 USA.
[Tantravahi, Umadevi] Brown Univ, Warren Alpert Med Sch, Woman & Infants Hosp, Div Genet,Dept Pathol, Providence, RI 02912 USA.
[McLean, Rebecca L.] Brown Univ, Warren Alpert Med Sch, Mem Hosp Rhode Isl, Neurodev Ctr,Dept Pediat, Providence, RI 02912 USA.
[Liu, Judy S.] Childrens Natl Med Ctr, Ctr Neurosci Res, Washington, DC 20010 USA.
RP Morrow, EM (reprint author), Brown Univ, Mol Med Lab, 70 Ship St, Providence, RI 02912 USA.
EM eric_morrow@brown.edu
FU Burroughs Wellcome Fund; NIH National Institute of General Medical
Sciences [P20GM103645]; NIH [1RO1MH105442-01]; Simons Foundation (SFARI)
[239834]; Nancy Lurie Marks Foundation; Christianson Syndrome
Association
FX E.M.M. has received a Career Award in Medical Science from the Burroughs
Wellcome Fund and support from NIH National Institute of General Medical
Sciences P20GM103645. This work was supported by a grant from the NIH
(1RO1MH105442-01; EMM), Simons Foundation (SFARI #239834; E. M. M.), and
also generous support to E. M. M. from the Nancy Lurie Marks Foundation.
E. M. M. also received generous support from the newly formed
Christianson Syndrome Association to complete the writing of the
manuscript.
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World Health Organization, 2006, WHO CHILD GROWTH STA
NR 40
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0364-5134
EI 1531-8249
J9 ANN NEUROL
JI Ann. Neurol.
PD OCT
PY 2014
VL 76
IS 4
BP 581
EP 593
DI 10.1002/ana.24225
PG 13
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AQ8FB
UT WOS:000343058400014
PM 25044251
ER
PT J
AU Shelton, JF
Geraghty, EM
Tancredi, DJ
Delwiche, LD
Schmidt, RJ
Ritz, B
Hansen, RL
Hertz-Picciotto, I
AF Shelton, Janie F.
Geraghty, Estella M.
Tancredi, Daniel J.
Delwiche, Lora D.
Schmidt, Rebecca J.
Ritz, Beate
Hansen, Robin L.
Hertz-Picciotto, Irva
TI Neurodevelopmental Disorders and Prenatal Residential Proximity to
Agricultural Pesticides: The CHARGE Study
SO ENVIRONMENTAL HEALTH PERSPECTIVES
LA English
DT Article
ID AUTISM DIAGNOSTIC INTERVIEW; MEXICAN-AMERICAN CHILDREN; PARAOXONASE PON1
STATUS; IN-UTERO EXPOSURE; ENVIRONMENTAL-FACTORS; CHLORPYRIFOS EXPOSURE;
GENE VARIANTS; CALIFORNIA; PREGNANCY; RISK
AB BACKGROUND: Gestational exposure to several common agricultural pesticides can induce developmental neurotoxicity in humans, and has been associated with developmental delay and autism.
OBJECTIVES: We evaluated whether residential proximity to agricultural pesticides during pregnancy is associated with autism spectrum disorders (ASD) or developmental delay (DD) in the Childhood Autism Risks from Genetics and Environment (CHARGE) study.
METHODS: The CHARGE study is a population-based case-control study of ASD, DD, and typical development. For 970 participants, commercial pesticide application data from the California Pesticide Use Report (1997-2008) were linked to the addresses during pregnancy. Pounds of active ingredient applied for organophophates, organochlorines, pyrethroids, and carbamates were aggregated within 1.25-km, 1.5-km, and 1.75-km buffer distances from the home. Multinomial logistic regression was used to estimate the odds ratio (OR) of exposure comparing confirmed cases of ASD (n = 486) or DD (n = 168) with typically developing referents (n = 316).
RESULTS: Approximately one-third of CHARGE study mothers lived, during pregnancy, within 1.5 km (just under 1 mile) of an agricultural pesticide application. Proximity to organophosphates at some point during gestation was associated with a 60% increased risk for ASD, higher for third-trimester exposures (OR = 2.0; 95% CI: 1.1, 3.6), and second-trimester chlorpyrifos applications (OR = 3.3; 95% CI: 1.5, 7.4). Children of mothers residing near pyrethroid insecticide applications just before conception or during third trimester were at greater risk for both ASD and DD, with ORs ranging from 1.7 to 2.3. Risk for DD was increased in those near carbamate applications, but no specific vulnerable period was identified.
CONCLUSIONS: This study of ASD strengthens the evidence linking neurodevelopmental disorders with gestational pesticide exposures, particularly organophosphates, and provides novel results of ASD and DD associations with, respectively, pyrethroids and carbamates.
C1 [Shelton, Janie F.; Delwiche, Lora D.; Schmidt, Rebecca J.; Hertz-Picciotto, Irva] Univ Calif Davis, Dept Publ Hlth Sci, Davis, CA 95616 USA.
[Geraghty, Estella M.] Univ Calif Davis, Sch Med, Div Gen Med, Sacramento, CA USA.
[Tancredi, Daniel J.; Hansen, Robin L.] Univ Calif Davis, Sch Med, Dept Pediat, Sacramento, CA USA.
[Tancredi, Daniel J.] Univ Calif Davis, Ctr Healthcare Policy & Res, Sch Med, Sacramento, CA USA.
[Ritz, Beate] Univ Calif Los Angeles, Fielding Sch Publ Hlth, Dept Epidemiol, Los Angeles, CA USA.
[Ritz, Beate] Univ Calif Los Angeles, Fielding Sch Publ Hlth, Dept Environm Hlth Sci, Los Angeles, CA USA.
[Ritz, Beate] Univ Calif Los Angeles, Fielding Sch Publ Hlth, Dept Neurol, Los Angeles, CA USA.
[Ritz, Beate] Univ Calif Los Angeles, Sch Med, Los Angeles, CA USA.
[Hansen, Robin L.; Hertz-Picciotto, Irva] UC Davis MIND Inst, Sacramento, CA USA.
RP Shelton, JF (reprint author), MS1C,One Shields Ave, Davis, CA 95616 USA.
EM janie.shelton@gmail.com
RI Ritz, Beate/E-3043-2015
FU National Institute of Environmental Health Sciences [R01 ES015359, P01
ES11269]; U.S. Environmental Protection Agency STAR [R829388, R833292];
UC Davis Division of Graduate Studies; UC Davis MIND (Medical
Investigation of Neurodevelopmental Disorders) Institute
FX This work was supported by grants from the National Institute of
Environmental Health Sciences (R01 ES015359, P01 ES11269), the U.S.
Environmental Protection Agency STAR (R829388 and R833292), the UC Davis
Division of Graduate Studies, and the UC Davis MIND (Medical
Investigation of Neurodevelopmental Disorders) Institute.
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NR 51
TC 8
Z9 8
PU US DEPT HEALTH HUMAN SCIENCES PUBLIC HEALTH SCIENCE
PI RES TRIANGLE PK
PA NATL INST HEALTH, NATL INST ENVIRONMENTAL HEALTH SCIENCES, PO BOX 12233,
RES TRIANGLE PK, NC 27709-2233 USA
SN 0091-6765
EI 1552-9924
J9 ENVIRON HEALTH PERSP
JI Environ. Health Perspect.
PD OCT
PY 2014
VL 122
IS 10
BP 1103
EP 1109
DI 10.1289/ehp.1307044
PG 7
WC Environmental Sciences; Public, Environmental & Occupational Health;
Toxicology
SC Environmental Sciences & Ecology; Public, Environmental & Occupational
Health; Toxicology
GA AQ9BO
UT WOS:000343136200023
PM 24954055
ER
PT J
AU Holzman, DC
AF Holzman, David C.
TI Pesticides and Autism Spectrum Disorders New Findings from the CHARGE
Study
SO ENVIRONMENTAL HEALTH PERSPECTIVES
LA English
DT News Item
ID CHILDREN
CR Eskenazi B, 2007, ENVIRON HEALTH PERSP, V115, P792, DOI 10.1289/ehp.9828
Lee SJ, 2011, ENVIRON HEALTH PERSP, V119, P1162, DOI 10.1289/ehp.1002843
Roberts EM, 2007, ENVIRON HEALTH PERSP, V115, P1482, DOI 10.1289/ehp.10168
Shelton JF, 2014, ENVIRON HEALTH PERSP, V122, P1103, DOI 10.1289/ehp.1307044
Shelton JF, 2012, ENVIRON HEALTH PERSP, V120, P944, DOI 10.1289/ehp.1104553
NR 5
TC 0
Z9 0
PU US DEPT HEALTH HUMAN SCIENCES PUBLIC HEALTH SCIENCE
PI RES TRIANGLE PK
PA NATL INST HEALTH, NATL INST ENVIRONMENTAL HEALTH SCIENCES, PO BOX 12233,
RES TRIANGLE PK, NC 27709-2233 USA
SN 0091-6765
EI 1552-9924
J9 ENVIRON HEALTH PERSP
JI Environ. Health Perspect.
PD OCT
PY 2014
VL 122
IS 10
BP A280
EP A280
DI 10.1289/ehp.122-A280
PG 1
WC Environmental Sciences; Public, Environmental & Occupational Health;
Toxicology
SC Environmental Sciences & Ecology; Public, Environmental & Occupational
Health; Toxicology
GA AQ9BO
UT WOS:000343136200008
PM 25272369
ER
PT J
AU El Marroun, H
White, T
Verhulst, FC
Tiemeier, H
AF El Marroun, Hanan
White, Tonya
Verhulst, Frank C.
Tiemeier, Henning
TI Maternal use of antidepressant or anxiolytic medication during pregnancy
and childhood neurodevelopmental outcomes: a systematic review
SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
LA English
DT Review
DE Prenatal exposure; Antidepressant medication; Anxiolytic medication;
Child neurodevelopment
ID SEROTONIN-REUPTAKE INHIBITORS; IN-UTERO EXPOSURE; PERSISTENT
PULMONARY-HYPERTENSION; AUTISM SPECTRUM DISORDERS; PROMOTER GENOTYPE
SLC6A4; POPULATION-BASED COHORT; PRENATAL EXPOSURE; DEPRESSED MOTHERS;
UNITED-STATES; DRUG-USE
AB Antidepressant and anxiolytic medications are widely prescribed and used by pregnant women for acute and maintenance therapy. These drugs are able to pass the placental barrier, and may potentially influence fetal and brain development. It is possible that exposure to prenatal antidepressants or anxiolytic medication may disturb neurotransmitter systems in the brain and have long-lasting consequences on neurodevelopment in the offspring. As all medication during pregnancy may pose a certain risk to the developing fetus, the potential benefits of the medication must be weighed against the risks for both mother and her unborn child. Therefore, information to guide patients and physicians to make a well-balanced decision for the appropriate treatment during pregnancy is needed. In this systematic review, an overview of maternal use of antidepressant or anxiolytic medication during pregnancy and childhood neurodevelopmental outcomes is provided. Some studies indicate a relation between prenatal exposure to antidepressants and adverse neurodevelopmental outcomes such as delayed motor development/motor control, social difficulties, internalizing problems and autism, but cannot rule out confounding by indication. Overall, the results of the observational studies have been inconsistent, which makes translation of the findings into clinical recommendations difficult. More well-designed observational studies and also randomized controlled trials (e.g., maintenance treatment vs. cessation) are needed to move forward and provide a comprehensive evaluation of the risks and benefits of antidepressant and anxiolytic use during pregnancy.
C1 [El Marroun, Hanan; White, Tonya; Verhulst, Frank C.; Tiemeier, Henning] Sophia Childrens Univ Hosp, Erasmus MC, Dept Child & Adolescent Psychiat, NL-3000 CB Rotterdam, Netherlands.
[White, Tonya] Erasmus MC, Dept Radiol, NL-3000 CA Rotterdam, Netherlands.
[Tiemeier, Henning] Erasmus MC, Dept Psychiat, NL-3000 CA Rotterdam, Netherlands.
[Tiemeier, Henning] Erasmus MC, Dept Epidemiol, NL-3000 CA Rotterdam, Netherlands.
RP El Marroun, H (reprint author), Sophia Childrens Univ Hosp, Erasmus MC, Dept Child & Adolescent Psychiat, NL-3000 CB Rotterdam, Netherlands.
EM h.marrounel@erasmusmc.nl
FU Sophia Children's Hospital Fund [SSWO-616]; Netherlands Organization for
Scientific Research (NWO Brain and Cognition Program) [433-09-311,
017.106.370]
FX The Sophia Children's Hospital Fund (SSWO-616) supported this work
financially. The Netherlands Organization for Scientific Research (NWO
Brain and Cognition Program Grant 433-09-311 and VIDI Grant
017.106.370). The funding agencies had no role in the design and conduct
of the study, collection, management, analyses and interpretation of the
data; and preparation, review or approval of the manuscript.
CR Alwan S, 2007, NEW ENGL J MED, V356, P2684, DOI 10.1056/NEJMoa066584
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NR 114
TC 2
Z9 2
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1018-8827
EI 1435-165X
J9 EUR CHILD ADOLES PSY
JI Eur. Child Adolesc. Psych.
PD OCT
PY 2014
VL 23
IS 10
BP 973
EP 992
DI 10.1007/s00787-014-0558-3
PG 20
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AQ9YM
UT WOS:000343215900010
PM 24863148
ER
PT J
AU Ngo, L
Haas, M
Qu, ZD
Li, SS
Zenker, J
Teng, KSL
Gunnersen, JM
Breuss, M
Habgood, M
Keays, DA
Heng, JIT
AF Ngo, Linh
Haas, Matilda
Qu, Zhengdong
Li, Shan Shan
Zenker, Jennifer
Teng, Kathleen Sue Lyn
Gunnersen, Jenny Margaret
Breuss, Martin
Habgood, Mark
Keays, David Anthony
Heng, Julian Ik-Tsen
TI TUBB5 and its disease-associated mutations influence the terminal
differentiation and dendritic spine densities of cerebral cortical
neurons
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID MICROTUBULE-ASSOCIATED PROTEIN; AUTISM SPECTRUM DISORDERS; DE-NOVO
MUTATIONS; MIGRATION; GROWTH; DOUBLECORTIN; TUBA1A; MORPHOLOGY;
DYNAMICS; PATTERNS
AB The microtubule cytoskeleton is critical for the generation and maturation of neurons in the developing mammalian nervous system. We have previously shown that mutations in the beta-tubulin gene TUBB5cause microcephaly with structural brain abnormalities in humans. While it is known that TUBB5 is necessary for the proper generation and migration of neurons, little is understood of the role it plays in neuronal differentiation and connectivity. Here, we report that perturbations to TUBB5 disrupt the morphology of cortical neurons, their neuronal complexity, axonal outgrowth, as well as the density and shape of dendritic spines in the postnatal murine cortex. The features we describe are consistent with defects in synaptic signaling. Cellular-based assays have revealed that TUBB5 substitutions have the capacity to alter the dynamic properties and polymerization rates of the microtubule cytoskeleton. Together, our studies show that TUBB5 is essential for neuronal differentiation and dendritic spine formation in vivo, providing insight into the underlying cellular pathology associated with TUBB5 disease states.
C1 [Ngo, Linh; Haas, Matilda; Qu, Zhengdong; Li, Shan Shan; Zenker, Jennifer; Heng, Julian Ik-Tsen] Monash Univ, EMBL Australia, Australian Regenerat Med Inst, Clayton, Vic 3800, Australia.
[Breuss, Martin; Keays, David Anthony] Inst Mol Pathol, A-1030 Vienna, Austria.
[Teng, Kathleen Sue Lyn; Gunnersen, Jenny Margaret; Habgood, Mark] Univ Melbourne, Anat & Neurosci Dept, Parkville, Vic 3010, Australia.
[Gunnersen, Jenny Margaret] Florey Inst Neurosci & Mental Hlth, Parkville, Vic 3010, Australia.
RP Heng, JIT (reprint author), Monash Univ, EMBL Australia, Australian Regenerat Med Inst, Clayton, Vic 3800, Australia.
EM david.keays@imp.ac.at; julian.heng@monash.edu
FU State Government of Victoria; Australian Government; Boehringer
Ingelheim; FWF [P24367, P21092, I914]; NH&MRC Career Development
Fellowship [1011505]; Monash Senior Research Fellowship
FX The Australian Regenerative Medicine Institute is supported by grants
from the State Government of Victoria and the Australian Government.
D.A.K. acknowledges the generous support of Boehringer Ingelheim and the
following FWF grants (P24367, P21092 and I914). J.I.H. is supported by
an NH&MRC Career Development Fellowship (ID:1011505), as well as a
Monash Senior Research Fellowship.
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NR 41
TC 1
Z9 1
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
EI 1460-2083
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD OCT 1
PY 2014
VL 23
IS 19
BP 5147
EP 5158
DI 10.1093/hmg/ddu238
PG 12
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AQ9OM
UT WOS:000343185200011
PM 24833723
ER
PT J
AU Rawat, RS
Juneja, R
Mehta, Y
Trehan, N
AF Rawat, Rajinder Singh
Juneja, Rajiv
Mehta, Yatin
Trehan, Naresh
TI Motor Stereotypy After Cardiac Surgery
SO JOURNAL OF CARDIOTHORACIC AND VASCULAR ANESTHESIA
LA English
DT Article
DE motor stereotypy; cardiac surgery; anesthesia
ID NONAUTISTIC CHILDREN; DISORDERS; MOVEMENTS; MORPHINE; AUTISM; RATS
C1 [Rawat, Rajinder Singh; Juneja, Rajiv; Mehta, Yatin; Trehan, Naresh] Medanta Med, Medanta Inst Crit Care & Anesthesiol, Gurgaon 122001, Haryana, India.
RP Mehta, Y (reprint author), Medanta Med, Medanta Inst Crit Care & Anesthesiol, Sect 38, Gurgaon 122001, Haryana, India.
EM yatinnzehta@hotmail.com
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NR 16
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 1053-0770
EI 1532-8422
J9 J CARDIOTHOR VASC AN
JI J. Cardiothorac. Vasc. Anesth.
PD OCT
PY 2014
VL 28
IS 5
BP 1323
EP 1325
DI 10.1053/j.jvca.2013.01.030
PG 3
WC Anesthesiology; Cardiac & Cardiovascular Systems; Respiratory System;
Peripheral Vascular Disease
SC Anesthesiology; Cardiovascular System & Cardiology; Respiratory System
GA AQ9PT
UT WOS:000343188500026
PM 23968771
ER
PT J
AU Solomon, R
Van Egeren, LA
Mahoney, G
Huber, MSQ
Zimmerman, P
AF Solomon, Richard
Van Egeren, Laurie A.
Mahoney, Gerald
Huber, Melissa S. Quon
Zimmerman, Perri
TI PLAY Project Home Consultation Intervention Program for Young Children
With Autism Spectrum Disorders: A Randomized Controlled Trial
SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
LA English
DT Article
DE developmental outcomes; early intervention; parent-mediated intervention
ID PERVASIVE DEVELOPMENTAL DISORDERS; PRESCHOOL-CHILDREN; JOINT ATTENTION;
BEHAVIOR; MODEL; CARE; TODDLERS; PARENTS; HEALTH
AB Objective: To evaluate the effectiveness of the Play and Language for Autistic Youngsters (PLAY) Project Home Consultation model, in combination with usual community services (CS), to improve parent-child interaction, child development, and autism symptomatology in young children with autism spectrum disorders (ASDs) compared with CS only. Methods: Children (N = 128) with autism or PDD-NOS (DSM-4 criteria) aged 2 years 8 months to 5 years 11 months and recruited from 5 disability agencies in 4 US states were randomized in two 1-year cohorts. Using videotape and written feedback within a developmental framework, PLAY consultants coached caregivers monthly for 12 months to improve caregiver-child interaction. CS included speech/language and occupational therapy and public education services. Primary outcomes included change in parent-child interactions, language and development, and autism-related diagnostic category/symptoms. Secondary outcomes included parent stress and depression and home consultant fidelity. Data were collected pre- and post-intervention. Results: Using intent-to-treat analysis (ITT), large treatment effects were evident for parent and child interactional behaviors on the Maternal and Child Behavior Rating Scales. Child language and developmental quotient did not differ over time by group, although functional development improved significantly. PLAY children improved in diagnostic categories on the Autism Diagnostic Observation Schedule (ADOS). PLAY caregivers' stress did not increase, and depressive symptomatology decreased. Home consultants administered the intervention with fidelity. Conclusions: PLAY intervention demonstrated substantial changes in parent-child interaction without increasing parents' stress/depression. ADOS findings must be interpreted cautiously because results do not align with clinical experience. PLAY offers communities a relatively inexpensive effective intervention for children with ASD and their parents.
C1 [Solomon, Richard; Zimmerman, Perri] Ann Arbor Ctr Dev & Behav Pediat, Ann Arbor, MI 48103 USA.
[Van Egeren, Laurie A.; Huber, Melissa S. Quon] Michigan State Univ, Off Univ Outreach & Engagement, E Lansing, MI 48824 USA.
[Mahoney, Gerald] Case Western Reserve Univ, Mandel Sch Appl Social Sci, Ctr Intervent Children & Families, Cleveland, OH 44106 USA.
RP Solomon, R (reprint author), Ann Arbor Ctr Dev & Behav Pediat, 2930 Parkridge Dr, Ann Arbor, MI 48103 USA.
EM dr.ricksol@comcast.net
FU National Institute of Mental Health (NIMH); Small Business Innovation
Research (SBIR) grant [2 R44 MH078431-02A1]
FX This investigation was supported by National Institute of Mental Health
(NIMH) and Small Business Innovation Research (SBIR) grant (grant# 2 R44
MH078431-02A1).
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NR 57
TC 3
Z9 3
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0196-206X
EI 1536-7312
J9 J DEV BEHAV PEDIATR
JI J. Dev. Behav. Pediatr.
PD OCT
PY 2014
VL 35
IS 8
BP 475
EP 485
PG 11
WC Behavioral Sciences; Psychology, Developmental; Pediatrics
SC Behavioral Sciences; Psychology; Pediatrics
GA AQ8JP
UT WOS:000343072100001
PM 25264862
ER
PT J
AU Conelea, CA
Carter, AC
Freeman, JB
AF Conelea, Christine A.
Carter, Alice C.
Freeman, Jennifer B.
TI Sensory Over-Responsivity in a Sample of Children Seeking Treatment for
Anxiety
SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
LA English
DT Article
DE sensory; anxiety; obsessive-compulsive disorder; depression;
psychopathology
ID OBSESSIVE-COMPULSIVE DISORDER; YOUNG-CHILDREN; TYPICAL DEVELOPMENT;
RISK-FACTORS; VALIDATION; INVENTORY; SYMPTOMS; AUTISM; SYMPTOMATOLOGY;
DEFENSIVENESS
AB Objective: Sensory over-responsivity (SOR) refers to an exaggerated, intense, or prolonged behavioral response to ordinary sensory stimuli. The relationship of SOR to psychiatric disorders remains poorly understood. The current study examined the SOR construct within typically developing children with clinically significant anxiety, including the prevalence and course of SOR symptoms and relationship between SOR symptoms, demographic factors, and psychopathology. Method; Children presenting at an anxiety specialty clinic (n = 88) completed a psychiatric diagnostic assessment, which included parent-report measures of SOR, anxiety, obsessive-compulsive disorder (OCD), and global behavior and child-report measures of anxiety, depression, and OCD. Results: Sensory over-responsivity symptoms were very common: 93.2% were bothered by at least 1 tactile or auditory sensation, and the mean number of bothersome sensations was 9.2 (SD = 7.4). SOR symptoms were reported to be "moderately bothersome" on average and to onset at an early age. Sensory Over-Responsivity Inventory (SensOR) scores did not differ by psychiatric disorder diagnosis, but SensOR scores significantly correlated with measures of OCD and depression. Higher SensOR scores were associated with greater global impairment. Conclusion; A high rate of SOR symptom occurrence was observed in this sample of children seeking anxiety treatment, suggesting that SOR may not be entirely independent of anxiety and may be closely associated with OCD. Future research on the validity and nosology of SOR using psychiatric samples is warranted.
C1 [Conelea, Christine A.; Freeman, Jennifer B.] Brown Univ, Rhode Isl Hosp, Alpert Med Sch, Bradley Hasbro Childrens Res Ctr, Providence, RI 02903 USA.
[Carter, Alice C.] Univ Massachusetts, Dept Psychol, Boston, MA 02125 USA.
RP Conelea, CA (reprint author), Bradley Hasbro Childrens Res Ctr, Coro West Suite 204,1 Hoppin St, Providence, RI 02903 USA.
EM christine_conelea@brown.edu
FU National Institute of Mental Health [F32MH095274]
FX Funding for this study was provided by a grant from the National
Institute of Mental Health (F32MH095274; PI [Removed for blind review]).
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2005, DIAGN CLASS 0 3R DIA, P68939
NR 44
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0196-206X
EI 1536-7312
J9 J DEV BEHAV PEDIATR
JI J. Dev. Behav. Pediatr.
PD OCT
PY 2014
VL 35
IS 8
BP 510
EP 521
PG 12
WC Behavioral Sciences; Psychology, Developmental; Pediatrics
SC Behavioral Sciences; Psychology; Pediatrics
GA AQ8JP
UT WOS:000343072100004
PM 25186122
ER
PT J
AU Zuckerman, KE
Sinche, B
Cobian, M
Cervantes, M
Mejia, A
Becker, T
Nicolaidis, C
AF Zuckerman, Katharine E.
Sinche, Brianna
Cobian, Martiza
Cervantes, Marlene
Mejia, Angie
Becker, Thomas
Nicolaidis, Christina
TI Conceptualization of Autism in the Latino Community and its Relationship
With Early Diagnosis
SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
LA English
DT Article
DE autism spectrum disorder; delayed diagnosis; Hispanic Americans; health
services accessibility; qualitative research
ID FAMILY-CENTERED CARE; HEALTH-CARE; SPECTRUM DISORDERS; ETHNIC
DISPARITIES; DEVELOPMENTAL-DISABILITIES; UNITED-STATES; CHILDREN;
IDENTIFICATION; HISPANICS; SERVICES
AB Objective: Early identification of autism spectrum disorders (ASD) has been linked to improved long-term developmental outcomes. However, Latino children are diagnosed later than white non-Latino children. We aimed to qualitatively assess the understanding and conceptualization of ASD in the Latino community to understand potential community barriers to early diagnosis. Methods: We conducted 5 focus groups and 4 qualitative interviews with 30 parents of typically developing Latino children in Oregon. Participants were asked structured questions concerning video vignettes that follow a Latina mother from the time she begins to worry about her 3-year-old son's behaviors to the time he receives an ASD diagnosis. Focus groups and interviews were audio-recorded, transcribed, and independently coded. Coded data were analyzed using thematic analysis. Results: Many Latino families in the study had not heard of ASD or had little information about it. Families sometimes assumed that ASD red flags were normal or could be attributed to family dysfunction. Families also had concerns about provider communication and access to language services. Having a child with a developmental delay was associated with embarrassment, rejection, and family burden, making it difficult for parents to raise developmental concerns with providers. Conclusions: Pediatric providers should not assume that Latino parents have heard of ASD or know its symptoms. Providers should be aware that parents may be reluctant to mention concerns because of cultural factors. The health care system needs to improve resources for Latino parents with limited English proficiency. Policies should encourage the use of developmental screening in primary care.
C1 [Zuckerman, Katharine E.; Sinche, Brianna; Cobian, Martiza; Cervantes, Marlene; Mejia, Angie] Oregon Hlth & Sci Univ, Div Gen Pediat, Portland, OR 97239 USA.
[Cobian, Martiza] Univ Pacific, Dept Psychol, Hillsboro, OR USA.
[Mejia, Angie] Syracuse Univ, Dept Sociol, Syracuse, NY USA.
[Becker, Thomas] Oregon Hlth & Sci Univ, Dept Publ Hlth & Prevent Med, Portland, OR 97239 USA.
[Nicolaidis, Christina] Oregon Hlth & Sci Univ, Dept Internal Med & Geriatr, Portland, OR 97239 USA.
[Nicolaidis, Christina] Portland State Univ, Sch Social Work, Portland, OR 97207 USA.
RP Zuckerman, KE (reprint author), Oregon Hlth & Sci Univ, Mail Code CDRC P, 707 SW Gaines Rd, Portland, OR 97239 USA.
EM zuckerma@ohsu.edu
FU National Institute of Mental Health [1K23MH095828]
FX This study was supported by grant #1K23MH095828 from the National
Institute of Mental Health.
CR [Anonymous], 2003, UNEQUAL TREATMENT CO
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Yeh M, 2004, J AM ACAD CHILD PSY, V43, P605, DOI 10.1097/00004583-200405000-00014
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Zuckerman KE, 2014, ACAD PEDIATR, V14, P301, DOI 10.1016/j.acap.2013.12.004
Zuckerman KE, 2013, J PEDIAT, V162, P409
Zuckerman KE, 2009, ACAD PEDIATR, V9, P97, DOI 10.1016/j.acap.2008.12.006
NR 34
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0196-206X
EI 1536-7312
J9 J DEV BEHAV PEDIATR
JI J. Dev. Behav. Pediatr.
PD OCT
PY 2014
VL 35
IS 8
BP 522
EP 532
PG 11
WC Behavioral Sciences; Psychology, Developmental; Pediatrics
SC Behavioral Sciences; Psychology; Pediatrics
GA AQ8JP
UT WOS:000343072100005
PM 25186120
ER
PT J
AU Fein, D
Kamio, Y
AF Fein, Deborah
Kamio, Yoko
TI Commentary on The Reason I Jump by Naoki Higashida
SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
LA English
DT Editorial Material
DE autism; book; autobiography
ID FACILITATED COMMUNICATION
C1 [Fein, Deborah] Univ Connecticut, Dept Psychol, Storrs, CT 06268 USA.
[Fein, Deborah] Univ Connecticut, Dept Pediat, Storrs, CT 06268 USA.
[Kamio, Yoko] Natl Ctr Neurol & Psychiat, Dept Child & Adolescent Mental Hlth, Kodaira, Tokyo, Japan.
RP Fein, D (reprint author), Univ Connecticut, Dept Psychol, 406 Babbidge Rd, Storrs, CT 06268 USA.
EM deborah.fein@uconn.edu
CR Fox RJ, 2001, CLIN NEUROL NEUROSUR, V103, P123, DOI 10.1016/S0303-8467(01)00126-3
JACOBSON JW, 1995, AM PSYCHOL, V50, P750, DOI 10.1037//0003-066X.50.9.750
Mostert MP, 2001, J AUTISM DEV DISORD, V31, P287, DOI 10.1023/A:1010795219886
SIMPSON RL, 1995, FOCUS EXCEPT CHILD, V27, P1
NR 4
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 OCT
PY 2014
VL 35
IS 8
BP 539
EP 542
PG 4
WC Behavioral Sciences; Psychology, Developmental; Pediatrics
SC Behavioral Sciences; Psychology; Pediatrics
GA AQ8JP
UT WOS:000343072100007
PM 25186119
ER
PT J
AU Provenzano, G
Pangrazzi, L
Poli, A
Pernigo, M
Sgado, P
Genovesi, S
Zunino, G
Berardi, N
Casarosa, S
Bozzi, Y
AF Provenzano, Giovanni
Pangrazzi, Luca
Poli, Andrea
Pernigo, Mattia
Sgado, Paola
Genovesi, Sacha
Zunino, Giulia
Berardi, Nicoletta
Casarosa, Simona
Bozzi, Yuri
TI Hippocampal Dysregulation of Neurofibromin-Dependent Pathways Is
Associated with Impaired Spatial Learning in Engrailed 2 Knock-Out Mice
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE autism; hippocampus; kinase; Morris water maze; neurodevelopmental
disorder; neurofibromatosis
ID AUTISM SPECTRUM DISORDERS; ACID-INDUCED SEIZURES; MUTANT MICE; MOUSE
MODEL; GABAERGIC NEURONS; EN-2 HOMEOBOX; DEFICITS; BEHAVIOR; TYPE-1;
BRAIN
AB Genome-wide association studies indicated the homeobox-containing transcription factor Engrailed-2 (En2) as a candidate gene for autism spectrum disorders (ASD). Accordingly, En2 knock-out (En2(-/-)) mice show anatomical and behavioral "ASD-like" features, including decreased sociability and learning deficits. The molecular pathways underlying these deficits in En2(-/-) mice are not known. Deficits in signaling pathways involving neurofibromin and extracellular-regulated kinase (ERK) have been associated with impaired learning. Here we investigated the neurofibromin-ERK cascade in the hippocampus of wild-type (WT) and En2(-/-) mice before and after spatial learning testing. When compared with WT littermates, En2(-/-) mice showed impaired performance in the Morris water maze (MWM), which was accompanied by lower expression of the activity-dependent gene Arc. Quantitative RT-PCR, immunoblotting, and immunohistochemistry experiments showed a marked downregulation of neurofibromin expression in the dentate gyrus of both naive and MWM-treated En2(-/-) mice. ERK phosphorylation, known to be induced in the presence of neurofibromin deficiency, was increased in the dentate gyrus of En2(-/-) mice after MWM. Treatment of En2(-/-) mice with lovastatin, an indirect inhibitor of ERK phosphorylation, markedly reduced ERK phosphorylation in the dentate gyrus, but was unable to rescue learning deficits in MWM-trained mutant mice. Further investigation is needed to unravel the complex molecular mechanisms linking dysregulation of neurofibromin-dependent pathways to spatial learning deficits in the En2 mouse model of ASD.
C1 [Provenzano, Giovanni; Pangrazzi, Luca; Pernigo, Mattia; Sgado, Paola; Genovesi, Sacha; Zunino, Giulia; Bozzi, Yuri] Univ Trent, Ctr Integrative Biol CIBIO, I-38123 Trento, Italy.
[Casarosa, Simona] Univ Trent, Ctr Integrative Biol CIBIO, Dev Neurobiol Lab, I-38123 Trento, Italy.
[Poli, Andrea; Berardi, Nicoletta; Casarosa, Simona; Bozzi, Yuri] Inst Neurosci, CNR, I-56124 Pisa, Italy.
[Berardi, Nicoletta] Univ Florence, Dept Neurosci & Psychol, I-50121 Florence, Italy.
RP Bozzi, Y (reprint author), Univ Trent, Ctr Integrative Biol CIBIO, Lab Mol Neuropathol, Via Regole 101, I-38123 Trento, Italy.
EM bozzi@science.unitn.it
FU Provincia Autonoma di Trento (Italy) under the European Community;
Italian Ministry of University and Research [200894SYW2_002,
2010N8PBAA_002]; University of Trento (CIBIO start-up grant)
FX P.S. is supported by Provincia Autonoma di Trento (Italy) under the
Marie Curie-People co-funding action of the European Community. This
work was funded by the Italian Ministry of University and Research (PRIN
2008 Grant 200894SYW2_002 and PRIN 2010-2011 Grant 2010N8PBAA_002 to
Y.B.) and the University of Trento (CIBIO start-up grant to S.C. and
Y.B.). We thank Dr. Patrizia D'Adamo (Dulbecco Telethon Institute,
Italy) for helpful comments.
CR Allegra M, 2014, FRONT CELL NEUROSCI, V8, DOI 10.3389/fncel.2014.00163
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NR 41
TC 1
Z9 1
PU SOC NEUROSCIENCE
PI WASHINGTON
PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA
SN 0270-6474
J9 J NEUROSCI
JI J. Neurosci.
PD OCT 1
PY 2014
VL 34
IS 40
BP 13281
EP 13288
DI 10.1523/JNEUROSCI.2894-13.2014
PG 8
WC Neurosciences
SC Neurosciences & Neurology
GA AQ9CZ
UT WOS:000343141100003
PM 25274808
ER
PT J
AU Prontera, P
Napolioni, V
Ottaviani, V
Rogaia, D
Fusco, C
Augello, B
Serino, D
Parisi, V
Bernardini, L
Merla, G
Cavanna, AE
Donti, E
AF Prontera, Paolo
Napolioni, Valerio
Ottaviani, Valentina
Rogaia, Daniela
Fusco, Carmela
Augello, Bartolomeo
Serino, Domenico
Parisi, Valentina
Bernardini, Laura
Merla, Giuseppe
Cavanna, Andrea E.
Donti, Emilio
TI DPP6 gene disruption in a family with Gilles de la Tourette syndrome
SO NEUROGENETICS
LA English
DT Article
DE Tourette syndrome; DPP6 gene; 7q microdeletion; Haloperidol; Autism;
Attention-deficit and hyperactivity disorder
ID DISORDER; AUTISM; VARIANTS; DELETION; PSD-95
AB Gilles de la Tourette syndrome (TS) is a neurodevelopmental disorder characterized by multiple motor and vocal tics, frequently associated with psychiatric co-morbidities. Despite the significant level of heritability, the genetic architecture of TS still remains elusive. Herein, we investigated an Italian family where an 8-year-old boy, his father, and paternal uncle have a diagnosis of TS. Array-CGH and high resolution SNP-array analyses revealed a heterozygous microdeletion of similar to 135kb at the 7q36.2 locus in the proband and his father. Fluorescent in situ hybridization and quantitative PCR (qPCR) analyses confirmed the presence of the alteration also in the paternal uncle. The deletion selectively involves the first exon of the DPP6 gene, leading to a down-regulation of its expression, as demonstrated by the reduced messenger RNA (mRNA) levels assessed by RT-qPCR. The DPP6 gene encodes for a type II membrane glycoprotein expressed predominantly in the central nervous system. To date, a de novo DPP6 exonic duplication, of uncertain significance, was reported in one patient with TS. Moreover, the DPP6 gene has been implicated in the pathogenesis of autism spectrum disorder (ASD) and, notably, in haloperidol-induced dyskinesia. This first familial case provides evidence for association between DPP6 haploinsufficiency and TS, further suggesting a plausible molecular link between TS and ASD, and might shed some light on the efficacy and tolerability profiles of antidopaminergic agents used for tic management, thus prompting further studies on a larger cohort of patients.
C1 [Prontera, Paolo; Ottaviani, Valentina; Rogaia, Daniela; Donti, Emilio] Univ Perugia, Dept Surg & Biomed Sci, Med Genet Unit, Hosp SM della Misericordia, I-06123 Perugia, Italy.
[Napolioni, Valerio] Innovat Pole Genom Genet & Biol, Perugia, Italy.
[Fusco, Carmela; Augello, Bartolomeo; Merla, Giuseppe] IRCCS Casa Sollievo Sofferenza, Med Genet Unit, Foggia, Italy.
[Serino, Domenico] Hosp Bambino Gesu, Div Neurol, Rome, Italy.
[Parisi, Valentina; Bernardini, Laura] IRCSS Casa Sollievo Sofferenza Hosp, Mendel Lab, Foggia, Italy.
[Cavanna, Andrea E.] BSMHFT, Dept Neuropsychiat, Birmingham, W Midlands, England.
[Cavanna, Andrea E.] Univ Birmingham, Birmingham, W Midlands, England.
[Cavanna, Andrea E.] Aston Univ, Sch Life & Hlth Sci, Birmingham B4 7ET, W Midlands, England.
[Cavanna, Andrea E.] UCL, Sobell Dept Motor Neurosci & Movement Disorders, London, England.
[Cavanna, Andrea E.] Inst Neurol, London WC1N 3BG, England.
RP Prontera, P (reprint author), Univ Perugia, Dept Surg & Biomed Sci, Med Genet Unit, Hosp SM della Misericordia, Via E dal Pozzo, I-06123 Perugia, Italy.
EM pprontera@hotmail.com
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NR 24
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1364-6745
EI 1364-6753
J9 NEUROGENETICS
JI Neurogenetics
PD OCT
PY 2014
VL 15
IS 4
BP 237
EP 242
DI 10.1007/s10048-014-0418-9
PG 6
WC Genetics & Heredity; Clinical Neurology
SC Genetics & Heredity; Neurosciences & Neurology
GA AQ9ZX
UT WOS:000343221800003
PM 25129042
ER
PT J
AU Caligiore, D
Tommasino, P
Sperati, V
Baldassarre, G
AF Caligiore, Daniele
Tommasino, Paolo
Sperati, Valerio
Baldassarre, Gianluca
TI Modular and hierarchical brain organization to understand assimilation,
accommodation and their relation to autism in reaching tasks: a
developmental robotics hypothesis
SO ADAPTIVE BEHAVIOR
LA English
DT Article
DE Brain functional modularity; brain functional graph; Piaget; autism;
connectome; hierarchical reinforcement learning; mixture-of-experts
neural networks
ID BASAL GANGLIA; COMPUTATIONAL MODEL; ACTION SELECTION; SUBCORTICAL LOOPS;
MOTOR IMAGERY; CORTEX; SYSTEMS; MOVEMENTS; CIRCUITS; PIAGET
AB By assimilation children embody sensorimotor experiences into already built mental structures. Conversely, by accommodation these structures are changed according to the child's new experience. Despite the intuitive power of these concepts to trace the course of sensorimotor development, they have gradually lost ground in psychology. This likely due to the lack of brain-related views capturing the dynamic mechanisms underlying them. Here we propose that brain modular and hierarchical organization is crucial to understanding assimilation/accommodation. We devise an experiment where a bio-inspired modular and hierarchical mixture-of-experts model guides a simulated robot to learn different reaching tasks by trial-and-error. The model gives a novel interpretation of assimilation/accommodation based on the functional organization of the experts allocated through learning. Assimilation occurs when the model adapts a copy of the expert trained for solving a task, to face another task requiring similar sensorimotor mappings. Experts storing similar sensorimotor mappings belong to the same functional module. Accommodation occurs when the model uses non-trained experts to face tasks requiring different sensorimotor mappings (generating a new functional group of experts). The model also provides a new theoretical framework to investigate assimilation/accommodation impairment, and proposes that such impairment might be related to autism spectrum disorder.
C1 [Caligiore, Daniele; Sperati, Valerio; Baldassarre, Gianluca] CNR, Ist Sci & Tecnol Cogniz, Lab Computat Embodied Neurosci, Catania, Italy.
[Tommasino, Paolo] Nanyang Technol Univ, Sch Mech & Aerosp Engn, Singapore 639798, Singapore.
RP Caligiore, D (reprint author), Consiglio Nazl Ric LOCEN ISTC CNR, Lab Computat Embodied Neurosci, Ist Sci & Tecnol Cogniz, Via San Martino della Battaglia 44, I-00185 Rome, Italy.
EM daniele.caligiore@istc.cnr.it
FU European Commission [ICT-IP-231722]
FX This research received funds from the European Commission under the 7th
Framework Programme (FP7 2007-2013), ICT Challenge 2 Cognitive Systems
and Robotics, project IM-CLeVeR - Intrinsically Motivated Cumulative
Learning Versatile Robots (grant number ICT-IP-231722).
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NR 121
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1059-7123
EI 1741-2633
J9 ADAPT BEHAV
JI Adapt. Behav.
PD OCT
PY 2014
VL 22
IS 5
BP 304
EP 329
DI 10.1177/1059712314539710
PG 26
WC Computer Science, Artificial Intelligence; Psychology, Experimental;
Social Sciences, Interdisciplinary
SC Computer Science; Psychology; Social Sciences - Other Topics
GA AQ7FJ
UT WOS:000342977700002
ER
PT J
AU Mayer, EA
Padua, D
Tillisch, K
AF Mayer, Emeran A.
Padua, David
Tillisch, Kirsten
TI Altered brain-gut axis in autism: Comorbidity or causative mechanisms?
SO BIOESSAYS
LA English
DT Article
DE brain gut interactions; gut microbiome; intestinal permeability;
neurodevelopment disorder
ID SPECTRUM DISORDERS; NEURODEVELOPMENTAL DISORDERS; GASTROINTESTINAL
DISORDERS; INTESTINAL MICROBIOTA; DIETARY INTERVENTION; ANXIETY
DISORDERS; CHILDREN; METAANALYSIS; CLOSTRIDIA; BEHAVIOR
AB The concept that alterated communications between the gut microbiome and the brain may play an important role in human brain disorders has recently received considerable attention. This is the result of provocative preclinical and some clinical evidence supporting early hypotheses about such communication in health and disease. Gastrointestinal symptoms are a common comorbidity in patients with autism spectrum disorders (ASD), even though the underlying mechanisms are largely unknown. In addition, alteration in the composition and metabolic products of the gut microbiome has long been implicated as a possible causative mechanism contributing to ASD pathophysiology, and this hypothesis has been supported by several recently published evidence from rodent models of autism induced by prenatal insults to the mother. Recent evidence in one such model involving maternal infection, that is characterized by alterations in behavior, gut physiology, microbial composition, and related metabolite profile, suggests a possible benefit of probiotic treatment on several of the observed abnormal behaviors.
C1 [Mayer, Emeran A.; Padua, David; Tillisch, Kirsten] Univ Calif Los Angeles, David Geffen Sch Med, Div Digest Dis, Oppenheimer Ctr Neurobiol Stress, Los Angeles, CA 90095 USA.
RP Mayer, EA (reprint author), Univ Calif Los Angeles, David Geffen Sch Med, Div Digest Dis, Oppenheimer Ctr Neurobiol Stress, Los Angeles, CA 90095 USA.
EM emayer@ucla.edu
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NR 51
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0265-9247
EI 1521-1878
J9 BIOESSAYS
JI Bioessays
PD OCT
PY 2014
VL 36
IS 10
BP 933
EP 939
DI 10.1002/bies.201400075
PG 7
WC Biochemistry & Molecular Biology; Biology
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
Topics
GA AQ6IP
UT WOS:000342914600005
PM 25145752
ER
PT J
AU Kokras, N
Dalla, C
AF Kokras, N.
Dalla, C.
TI Sex differences in animal models of psychiatric disorders
SO BRITISH JOURNAL OF PHARMACOLOGY
LA English
DT Review
ID FORCED-SWIMMING TEST; CHRONIC MILD STRESS; ELEVATED PLUS-MAZE;
OBSESSIVE-COMPULSIVE DISORDER; ANXIETY-LIKE BEHAVIOR; CONDITIONED
TASTE-AVERSIONS; DEPRESSIVE-LIKE BEHAVIOR; OPEN-FIELD BEHAVIOR;
HYPOTHALAMIC SELF-STIMULATION; STRIATAL DOPAMINE RELEASE
AB Psychiatric disorders are characterized by sex differences in their prevalence, symptomatology and treatment response. Animal models have been widely employed for the investigation of the neurobiology of such disorders and the discovery of new treatments. However, mostly male animals have been used in preclinical pharmacological studies. In this review, we highlight the need for the inclusion of both male and female animals in experimental studies aiming at gender-oriented prevention, diagnosis and treatment of psychiatric disorders. We present behavioural findings on sex differences from animal models of depression, anxiety, post-traumatic stress disorder, substance-related disorders, obsessive-compulsive disorder, schizophrenia, bipolar disorder and autism. Moreover, when available, we include studies conducted across different stages of the oestrous cycle. By inspection of the relevant literature, it is obvious that robust sex differences exist in models of all psychiatric disorders. However, many times results are conflicting, and no clear conclusion regarding the direction of sex differences and the effect of the oestrous cycle is drawn. Moreover, there is a lack of considerable amount of studies using psychiatric drugs in both male and female animals, in order to evaluate the differential response between the two sexes. Notably, while in most cases animal models successfully mimic drug response in both sexes, test parameters and treatment-sensitive behavioural indices are not always the same for male and female rodents. Thus, there is an increasing need to validate animal models for both sexes and use standard procedures across different laboratories.
C1 [Kokras, N.; Dalla, C.] Univ Athens, Sch Med, Dept Pharmacol, Goudi 11527, Greece.
[Kokras, N.] Univ Athens, Sch Med, Eginit Hosp, Dept Psychiat 1, Goudi 11527, Greece.
RP Dalla, C (reprint author), Univ Athens, Sch Med, Dept Pharmacol, Mikras Asias 75, Goudi 11527, Greece.
EM cdalla@med.uoa.gr
FU Large Scale Cooperative Project [09SYN211003]; European Social Fund
(ESF); General Secretariat for Research and Technology in Greece
FX Both authors are supported by a 'Large Scale Cooperative Project'
(09SYN211003) co-financed by the European Social Fund (ESF) and the
General Secretariat for Research and Technology in Greece.
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NR 330
TC 5
Z9 5
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0007-1188
EI 1476-5381
J9 BRIT J PHARMACOL
JI Br. J. Pharmacol.
PD OCT
PY 2014
VL 171
IS 20
SI SI
BP 4595
EP 4619
DI 10.1111/bph.12710
PG 25
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AQ5AK
UT WOS:000342814300006
PM 24697577
ER
PT J
AU McOmish, CE
Burrows, EL
Hannan, AJ
AF McOmish, Caitlin E.
Burrows, Emma L.
Hannan, Anthony J.
TI Identifying novel interventional strategies for psychiatric disorders:
integrating genomics, 'enviromics' and gene-environment interactions in
valid preclinical models
SO BRITISH JOURNAL OF PHARMACOLOGY
LA English
DT Review
ID AUTISM SPECTRUM DISORDERS; VITAMIN-D DEFICIENCY; MAJOR DEPRESSION;
ANXIETY DISORDERS; STRESS-DISORDER; WIDE ANALYSIS; ANIMAL-MODEL;
RISK-FACTOR; SCHIZOPHRENIA; PSYCHOSIS
AB Psychiatric disorders affect a substantial proportion of the population worldwide. This high prevalence, combined with the chronicity of the disorders and the major social and economic impacts, creates a significant burden. As a result, an important priority is the development of novel and effective interventional strategies for reducing incidence rates and improving outcomes. This review explores the progress that has been made to date in establishing valid animal models of psychiatric disorders, while beginning to unravel the complex factors that may be contributing to the limitations of current methodological approaches. We propose some approaches for optimizing the validity of animal models and developing effective interventions. We use schizophrenia and autism spectrum disorders as examples of disorders for which development of valid preclinical models, and fully effective therapeutics, have proven particularly challenging. However, the conclusions have relevance to various other psychiatric conditions, including depression, anxiety and bipolar disorders. We address the key aspects of construct, face and predictive validity in animal models, incorporating genetic and environmental factors. Our understanding of psychiatric disorders is accelerating exponentially, revealing extraordinary levels of genetic complexity, heterogeneity and pleiotropy. The environmental factors contributing to individual, and multiple, disorders also exhibit breathtaking complexity, requiring systematic analysis to experimentally explore the environmental mediators and modulators which constitute the 'envirome' of each psychiatric disorder. Ultimately, genetic and environmental factors need to be integrated via animal models incorporating the spatiotemporal complexity of gene-environment interactions and experience-dependent plasticity, thus better recapitulating the dynamic nature of brain development, function and dysfunction.
C1 [McOmish, Caitlin E.; Burrows, Emma L.; Hannan, Anthony J.] Univ Melbourne, Melbourne Brain Ctr, Florey Inst Neurosci & Mental Hlth, Parkville, Vic 3010, Australia.
[McOmish, Caitlin E.] Columbia Univ, Sackler Inst Dev Psychobiol, New York, NY USA.
[McOmish, Caitlin E.] Columbia Univ, Dept Psychiat, New York, NY USA.
[Hannan, Anthony J.] Univ Melbourne, Dept Anat & Neurosci, Parkville, Vic 3052, Australia.
RP Hannan, AJ (reprint author), Univ Melbourne, Melbourne Brain Ctr, Florey Inst Neurosci & Mental Hlth, Parkville, Vic 3010, Australia.
EM anthony.hannan@florey.edu.au
FU National Health and Medical Research Council (NHMRC); Brain and Behavior
Research Foundation (NARSAD) Young Investigator Award; Australian
Research Council (ARC) FT3 Future Fellowship [FT100100835]; NHMRC
FX We thank past and present laboratory members for useful discussions. C.
E. M. is supported by a National Health and Medical Research Council
(NHMRC) CJ Martin Overseas Biomedical Fellowship, and a Brain and
Behavior Research Foundation (NARSAD) Young Investigator Award. A. J. H.
is supported by an Australian Research Council (ARC) FT3 Future
Fellowship (FT100100835) and NHMRC Project Grants.
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NR 80
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0007-1188
EI 1476-5381
J9 BRIT J PHARMACOL
JI Br. J. Pharmacol.
PD OCT
PY 2014
VL 171
IS 20
SI SI
BP 4719
EP 4728
DI 10.1111/bph.12783
PG 10
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AQ5AK
UT WOS:000342814300011
PM 24846457
ER
PT J
AU Luo, M
Li, JX
Sun, XS
Lai, R
Wang, YF
Xu, XW
Sheng, WL
AF Luo, Man
Li, Jiao-Xing
Sun, Xun-Sha
Lai, Rong
Wang, Yu-Fang
Xu, Xiao-Wei
Sheng, Wen-Li
TI The Single Nucleotide Polymorphism rs2208454 Confers an Increased Risk
for Ischemic Stroke: A Case-Control Study
SO CNS NEUROSCIENCE & THERAPEUTICS
LA English
DT Article
DE Ischemic stroke; Large artery atherosclerosis; rs2208454; Single
nucleotide polymorphism; Stroke subtype
ID GENOME-WIDE ASSOCIATION; BRAIN INFARCTS; GENE; METAANALYSIS; DISEASE;
AUTISM; SCAN
AB Aim: A recent genome-wide association study identified a strong association of covert magnetic resonance imaging infarcts with the single nucleotide polymorphism (SNP) rs2208454. The aim of this study was to determine whether the rs2208454 polymorphism is associated with an increased risk for ischemic stroke (IS). Methods: Ischemic stroke patients (n = 712) and control subjects (n = 774) from a southern Chinese Han population were included. The snapshot technique was used for genotype analysis. Results: Compared with the GT+GG or GG genotype, the frequency of the TT genotype was significantly higher in IS than in controls. After adjusting for age, gender, family history of IS, hypertension history, and history of diabetes mellitus, a significant correlation between the TT genotype and IS persisted (TT vs. GT+GG: adjusted OR = 1.79, 95% CI: 1.16-2.77; TT vs. GG: adjusted OR = 1.88, 95% CI: 1.20-2.94). In subgroup analyses, SNP rs2208454 was significantly associated with large artery atherosclerosis (LAA) (TT vs. GG: adjusted OR = 2.16, 95% CI: 1.19-3.93), but failed to show significant association with small-artery occlusion or cardio-embolism IS subtypes. Conclusions: Single nucleotide polymorphism rs2208454 confers an increased risk for IS in a southern Chinese Han population. When the IS subtype was examined, the effect of the SNP was restricted to LAA.
C1 [Luo, Man; Li, Jiao-Xing; Sun, Xun-Sha; Lai, Rong; Wang, Yu-Fang; Sheng, Wen-Li] Sun Yat Sen Univ, Affiliated Hosp 1, Dept Neurol, Guangzhou 510080, Guangdong, Peoples R China.
[Luo, Man] Guangxi Med Univ, Affiliated Hosp 1, Dept Neurol, Nanning, Peoples R China.
[Xu, Xiao-Wei] Weifang Peoples Hosp, Dept Neurol, Weifang, Shandong, Peoples R China.
RP Sheng, WL (reprint author), Sun Yat Sen Univ, Affiliated Hosp 1, Dept Neurol, Guangzhou 510080, Guangdong, Peoples R China.
EM shengwl@mail.sysu.edu.cn
FU National Natural Science Foundation of China [81070912]; Guangxi Natural
Science Foundation [2013GXNSFBA019131]; Self-financing Science
Foundation of Guangxi Health Bureau [Z2012096]; Shandong Province
Excellent Young Scientist Research Award Fund [BS2012YY035]
FX This work was supported by the National Natural Science Foundation of
China (81070912), Guangxi Natural Science Foundation
(2013GXNSFBA019131), Self-financing Science Foundation of Guangxi Health
Bureau (#Z2012096), and Shandong Province Excellent Young Scientist
Research Award Fund (#BS2012YY035).
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NR 15
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1755-5930
EI 1755-5949
J9 CNS NEUROSCI THER
JI CNS Neurosci. Ther.
PD OCT
PY 2014
VL 20
IS 10
BP 893
EP 897
DI 10.1111/cns.12298
PG 5
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA AQ5CE
UT WOS:000342820000002
PM 24954375
ER
PT J
AU Desai, T
Chow, K
Mumford, L
Hotze, F
Chau, T
AF Desai, Tania
Chow, Katherine
Mumford, Leslie
Hotze, Fanny
Chau, Tom
TI Implementing an iPad-based alternative communication device for a
student with cerebral palsy and autism in the classroom via an access
technology delivery protocol
SO COMPUTERS & EDUCATION
LA English
DT Article
DE Augmentative and alternative; communication; Childhood disability;
Access technology; Pediatric rehabilitation; iPad
ID SPECTRUM DISORDERS; CHILDREN; AAC; SKILLS; COLLABORATION; INDIVIDUALS;
CHALLENGES; TEACHERS; SYSTEM
AB Individuals with a comorbid diagnosis of cerebral palsy and autism spectrum disorder can have significant communication deficits. The implementation of an alternative and augmentative communication (AAC) device is often essential to promote language development and participation in school, home and community environments. The present study evaluated the impact of introducing a high-tech alternative and augmentative device, namely an Apple iPad with the "GoTalk Now" communication application to a student diagnosed with cerebral palsy and autism spectrum disorder. Integration of the technology focused on promoting key elements associated with long term AAC usage, namely, targeted training of the student, teacher, educational assistant and parents, over the course of the school year. Marked increases in the student's communication skills and non-academic school functioning were observed. The need for communication partner prompting declined over time while the student, teacher and parent remained engaged by the iPad solution. This case study supports the classroom implementation of high-tech communication devices for those with complex communication needs via a comprehensive access delivery protocol that invokes systematic student, teacher, educational assistant and parent training. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Desai, Tania; Chow, Katherine] Toronto Dist Sch Board, Toronto, ON, Canada.
[Mumford, Leslie; Hotze, Fanny] Holland Bloorview Kids Rehabil Hosp, Bloorview Res Inst, Toronto, ON, Canada.
[Chau, Tom] Univ Toronto, Holland Bloorview Kids Rehabil Hosp, Inst Biomat & Biomed Engn, Bloorview Res Inst, Toronto, ON, Canada.
RP Chau, T (reprint author), Univ Toronto, Holland Bloorview Kids Rehabil Hosp, Inst Biomat & Biomed Engn, Bloorview Res Inst, Toronto, ON, Canada.
EM tom.chau@utoronto.ca
FU Sunny View Youth Involvement Foundation; Holland Bloorview Kids
Rehabilitation Hospital Foundation
FX The authors would like to thank Elton, the school administration,
teacher, educational assistant, and family for participating in the
study. We also express our gratitude for the funding provided by the
Sunny View Youth Involvement Foundation, Holland Bloorview Kids
Rehabilitation Hospital Foundation and the student's school.
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NR 44
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0360-1315
EI 1873-782X
J9 COMPUT EDUC
JI Comput. Educ.
PD OCT
PY 2014
VL 79
BP 148
EP 158
DI 10.1016/j.compedu.2014.07.009
PG 11
WC Computer Science, Interdisciplinary Applications; Education &
Educational Research
SC Computer Science; Education & Educational Research
GA AQ5WU
UT WOS:000342880100012
ER
PT J
AU Engineer, CT
Centanni, TM
Im, KW
Borland, MS
Moreno, NA
Carraway, RS
Wilson, LG
Kilgard, MP
AF Engineer, C. T.
Centanni, T. M.
Im, K. W.
Borland, M. S.
Moreno, N. A.
Carraway, R. S.
Wilson, L. G.
Kilgard, M. P.
TI Degraded Auditory Processing in a Rat Model of Autism Limits the Speech
Representation in Non-Primary Auditory Cortex
SO DEVELOPMENTAL NEUROBIOLOGY
LA English
DT Article
DE speech; auditory cortex; autism; valproic acid; neurophysiology
ID ANTIEPILEPTIC DRUG EXPOSURE; FETAL VALPROATE SYNDROME; SCHOOL-AGED
CHILDREN; IN-UTERO EXPOSURE; ANIMAL-MODEL; DISCRIMINATION ABILITY;
ENVIRONMENTAL ENRICHMENT; BEHAVIORAL ALTERATIONS; SPECTRUM DISORDERS;
GAMMA OSCILLATIONS
AB Although individuals with autism are known to have significant communication problems, the cellular mechanisms responsible for impaired communication are poorly understood. Valproic acid (VPA) is an anticonvulsant that is a known risk factor for autism in prenatally exposed children. Prenatal VPA exposure in rats causes numerous neural and behavioral abnormalities that mimic autism. We predicted that VPA exposure may lead to auditory processing impairments which may contribute to the deficits in communication observed in individuals with autism. In this study, we document auditory cortex responses in rats prenatally exposed to VPA. We recorded local field potentials and multiunit responses to speech sounds in primary auditory cortex, anterior auditory field, ventral auditory field. and posterior auditory field in VPA exposed and control rats. Prenatal VPA exposure severely degrades the precise spatiotemporal patterns evoked by speech sounds in secondary, but not primary auditory cortex. This result parallels findings in humans and suggests that secondary auditory fields may be more sensitive to environmental disturbances and may provide insight into possible mechanisms related to auditory deficits in individuals with autism. (c) 2014 Wiley Periodicals, Inc.
C1 [Engineer, C. T.; Centanni, T. M.; Im, K. W.; Borland, M. S.; Moreno, N. A.; Carraway, R. S.; Wilson, L. G.; Kilgard, M. P.] Univ Texas Dallas, Sch Behav & Brain Sci, Richardson, TX 75080 USA.
RP Engineer, CT (reprint author), Univ Texas Dallas, Sch Behav & Brain Sci, Richardson, TX 75080 USA.
EM novitski@utdallas.edu
FU National Institutes of Health [R01DC010433]; American
Speech-Language-Hearing Foundation (Research Grant for New
Investigators)
FX Contract grant sponsor: National Institutes of Health; contract grant
number: R01DC010433.Contract grant sponsor: American
Speech-Language-Hearing Foundation (Research Grant for New
Investigators).
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NR 74
TC 5
Z9 6
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1932-8451
EI 1932-846X
J9 DEV NEUROBIOL
JI Dev. Neurobiol.
PD OCT
PY 2014
VL 74
IS 10
BP 972
EP 986
DI 10.1002/dneu.22175
PG 15
WC Developmental Biology; Neurosciences
SC Developmental Biology; Neurosciences & Neurology
GA AQ5GW
UT WOS:000342836600002
PM 24639033
ER
PT J
AU Nandrino, JL
Gandolphe, MC
Alexandre, C
Kmiecik, E
Yguel, J
Urso, L
AF Nandrino, Jean-Louis
Gandolphe, Marie-Charlotte
Alexandre, Charlotte
Kmiecik, Elodie
Yguel, Jacques
Urso, Laurent
TI Cognitive and affective theory of mind abilities in alcohol-dependent
patients: The role of autobiographical memory
SO DRUG AND ALCOHOL DEPENDENCE
LA English
DT Article
DE Autobiographical memory; Theory of mind; Alcohol; Substance abuse;
Emotion; RMEt
ID EMOTIONAL FACIAL EXPRESSION; HIGH-FUNCTIONING AUTISM; LONG-TERM
ABSTINENCE; EPISODIC MEMORY; AUTONOETIC CONSCIOUSNESS; PREFRONTAL
CORTEX; ASPERGER-SYNDROME; COMPLEX EMOTIONS; NORMAL ADULTS; EYES TEST
AB Background: Many studies of patients with alcohol dependence (AD) have highlighted their difficulty in identifying both their own emotional state and those of a social partner. We examined (1) the cognitive and affective theory of mind (ToM) abilities of AD patients and (2) how the efficiency of their autobiographical memory (AM) can affect the effectiveness of ToM ability.
Method: In a cross-sectional design, AD patients (N = 50) and healthy controls (N = 30) completed a ToM movie paradigm (Versailles-Situational Intention Reading, V-SIR) in which they inferred the intentions of characters in movies depicting social interactions, and the "Reading the Mind in the Eyes" Test (RMET), which assessed the emotional dimension of the ToM. AM was investigated using the "Autobiographical Memory Interview" (AMI) to assess both episodic and semantic components of AM.
Results: Concerning ToM, patients with AD showed lower performance in the RMET than control participants, whereas no difference was observed on the V-SIR test. AD patients had lower scores than controls on the AMI, for both episodic and semantic components and for different periods of life. A multiple linear regression analysis also showed that AM deficits might predict lower ToM performance, especially for the RMET task.
Conclusions: Patients with AD have a specific affective ToM deficit. They used episodic memories to perceive the emotions of others, whereas controls used preferentially semantic memories to perform the task. Both these deficits could constitute a risk of relapse and should be a target for psychotherapeutic interventions. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Nandrino, Jean-Louis; Gandolphe, Marie-Charlotte; Alexandre, Charlotte; Kmiecik, Elodie] Univ Lille 3, URECA, EA 1059, Cognit & Affect Sci Lab, F-59653 Villeneuve Dascq, France.
[Nandrino, Jean-Louis] Fdn Sante Etud France, Clin Medicopsychol, Villeneuve Dascq, France.
[Yguel, Jacques] Ctr Hosp Avesnes Helpe, Serv Alcool, Avesnes Sur Helpe, France.
[Urso, Laurent] Ctr Hosp Roubaix, Serv Addictol, Roubaix, France.
RP Nandrino, JL (reprint author), Univ Lille 3, URECA EA 1059, Domaine Pont Bois, F-59653 Villeneuve Dascq, France.
EM jean-louis.nandrino@univ-lille3.fr
FU own funds of the University Lille 3; Cognitive and Affective Sciences
Laboratory (URECA)
FX Funding for the study was provided by the own funds of the University
Lille 3 and the Cognitive and Affective Sciences Laboratory (URECA).
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NR 61
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0376-8716
EI 1879-0046
J9 DRUG ALCOHOL DEPEN
JI Drug Alcohol Depend.
PD OCT 1
PY 2014
VL 143
BP 65
EP 73
DI 10.1016/j.drugalcdep.2014.07.010
PG 9
WC Substance Abuse; Psychiatry
SC Substance Abuse; Psychiatry
GA AQ5TI
UT WOS:000342871100009
PM 25107313
ER
PT J
AU Hollin, G
AF Hollin, Gregory
TI Constructing a social subject: Autism and human sociality in the 1980s
SO HISTORY OF THE HUMAN SCIENCES
LA English
DT Article
DE autism; cognitive psychology; Michel Foucault; sociality; theory of mind
ID EXECUTIVE FUNCTION; MIND; CHILDREN; PSYCHOLOGY; REPRESENTATION;
PERSPECTIVE; PREVALENCE; KNOWLEDGE; STORIES; HISTORY
AB This article examines three key aetiological theories of autism (meta-representations, executive dysfunction and weak central coherence), which emerged within cognitive psychology in the latter half of the 1980s. Drawing upon Foucault's notion of forms of possible knowledge', and in particular his concept of savoir or depth knowledge, two key claims are made. First, it is argued that a particular production of autism became available to questions of truth and falsity following a radical reconstruction of the social' in which human sociality was taken both to exclusively concern interpersonal interaction and to be continuous with non-social cognition. Second, it is suggested that this reconstruction of the social has affected the contemporary cultural experience of autism, shifting attention towards previously unacknowledged cognitive aspects of the condition. The article concludes by situating these claims in relation to other historical accounts of the emergence of autism and ongoing debates surrounding changing articulations of social action in the psy disciplines.
C1 Univ Nottingham, Inst Sci & Soc, Sch Sociol & Social Policy, Nottingham NG7 2RD, England.
RP Hollin, G (reprint author), Univ Nottingham, Inst Sci & Soc, Sch Sociol & Social Policy, Law & Social Sci Bldg,Univ Pk, Nottingham NG7 2RD, England.
EM gregory.hollin@nottingham.ac.uk
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NR 86
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0952-6951
EI 1461-720X
J9 HIST HUM SCI
JI Hist. Hum. Sci.
PD OCT
PY 2014
VL 27
IS 4
BP 98
EP 115
DI 10.1177/0952695114528189
PG 18
WC History & Philosophy Of Science; History Of Social Sciences
SC History & Philosophy of Science; Social Sciences - Other Topics
GA AQ5EG
UT WOS:000342828300005
ER
PT J
AU Iwanami, A
Okajima, Y
Ota, H
Tani, M
Yamada, T
Yamagata, B
Hashimoto, R
Kanai, C
Takashio, O
Inamoto, A
Ono, T
Takayama, Y
Kato, N
AF Iwanami, Akira
Okajima, Yuka
Ota, Haruhisa
Tani, Masayuki
Yamada, Takashi
Yamagata, Bun
Hashimoto, Ryuichiro
Kanai, Chieko
Takashio, Osamu
Inamoto, Atsuko
Ono, Taisei
Takayama, Yukiko
Kato, Nobumasa
TI P300 Component of Event-Related Potentials in Persons With Asperger
Disorder
SO JOURNAL OF CLINICAL NEUROPHYSIOLOGY
LA English
DT Article
DE Asperger disorder; PDD; ERP; P300; P3a; P3b
ID PERVASIVE DEVELOPMENTAL DISORDERS; EXECUTIVE FUNCTION DEFICITS;
AUDITORY-EVOKED POTENTIALS; AUTISM SPECTRUM DISORDERS; JAPANESE VERSION;
FUNCTIONAL MRI; QUOTIENT AQ; ABNORMALITIES; ATTENTION; CHILDREN
AB In the present study, we investigated auditory event-related potentials in adults with Asperger disorder and normal controls using an auditory oddball task and a novelty oddball task. Task performance and the latencies of P300 evoked by both target and novel stimuli in the two tasks did not differ between the two groups. Analysis of variance revealed that there was a significant interaction effect between group and electrode site on the mean amplitude of the P300 evoked by novel stimuli, which indicated that there was an altered distribution of the P300 in persons with Asperger disorder. In contrast, there was no significant interaction effect on the mean P300 amplitude elicited by target stimuli. Considering that P300 comprises two main subcomponents, frontal-central-dominant P3a and parietal-dominant P3b, our results suggested that persons with Asperger disorder have enhanced amplitude of P3a, which indicated activated prefrontal function in this task.
C1 [Iwanami, Akira; Okajima, Yuka; Ota, Haruhisa; Tani, Masayuki; Yamada, Takashi; Yamagata, Bun; Takashio, Osamu; Inamoto, Atsuko; Ono, Taisei; Takayama, Yukiko; Kato, Nobumasa] Showa Univ, Sch Med, Dept Psychiat, Tokyo 1578577, Japan.
[Hashimoto, Ryuichiro] Tokyo Metropolitan Univ, Dept Language Sci, Tokyo 158, Japan.
[Kanai, Chieko] Sagami Womens Univ, Fac Arts & Sci, Dept Educ & Child Studies, Sagamihara, Kanagawa, Japan.
RP Iwanami, A (reprint author), Showa Univ, Sch Med, Dept Psychiat, Setagaya Ku, 6-11-11 Kitakarasuyama, Tokyo 1578577, Japan.
EM iwanami@med.showa-u.ac.jp
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NR 51
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0736-0258
EI 1537-1603
J9 J CLIN NEUROPHYSIOL
JI J. Clin. Neurophysiol.
PD OCT
PY 2014
VL 31
IS 5
BP 493
EP 499
DI 10.1097/WNP.0000000000000080
PG 7
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AQ6CC
UT WOS:000342894400018
PM 25271690
ER
PT J
AU Matic, K
Eninger, T
Bardoni, B
Davidovic, L
Macek, B
AF Matic, Katarina
Eninger, Timo
Bardoni, Barbara
Davidovic, Laetitia
Macek, Boris
TI Quantitative Phosphoproteomics of Murine Fmr1-KO Cell Lines Provides New
Insights into FMRP-Dependent Signal Transduction Mechanisms
SO JOURNAL OF PROTEOME RESEARCH
LA English
DT Article
DE fragile X syndrome; autism; phosphoproteomics; FMRP; FMR1; MEF
ID FRAGILE-X-SYNDROME; MENTAL-RETARDATION PROTEIN; RNA-BINDING PROTEIN;
SYNDROME MOUSE MODEL; DNA-DAMAGE RESPONSE; MESSENGER-RNA; PRION PROTEIN;
SPECTRUM DISORDERS; KNOCKOUT MICE; G-QUADRUPLEX
AB Fragile X mental retardation protein (FMRP) is an RNA-binding protein that has a major effect on neuronal protein synthesis. Transcriptional silencing of the FMR1 gene leads to loss of FMRP and development of Fragile X syndrome (FXS), the most common known hereditary cause of intellectual impairment and autism. Here we utilize SILAC-based quantitative phosphoproteomics to analyze murine FMR1(-) and FMR1(+) fibroblastic cell lines derived from FMR1-KO embryos to identify proteins and phosphorylation sites dysregulated as a consequence of FMRP loss. We quantify FMRP-related changes in the levels of 5,023 proteins and 6,133 phosphorylation events and map them onto major signal transduction pathways. Our study confirms global downregulation of the MAPK/ERK pathway and decrease in phosphorylation level of ERK1/2 in the absence of FMRP, which is connected to attenuation of long-term potentiation. We detect differential expression of several key proteins from the p53 pathway, pointing to the involvement of p53 signaling in dysregulated cell cycle control in FXS. Finally, we detect differential expression and phosphorylation of proteins involved in pre-mRNA processing and nuclear transport, as well as Wnt and calcium signaling, such as PLC, PKC, NFAT, and cPLA2. We postulate that calcium homeostasis is likely affected in molecular pathogenesis of FXS.
C1 [Matic, Katarina; Eninger, Timo; Macek, Boris] Univ Tubingen, Proteome Ctr Tubingen, D-72074 Tubingen, Germany.
[Matic, Katarina] Univ Tubingen, Grad Sch Cellular & Mol Neurosci, D-72074 Tubingen, Germany.
[Bardoni, Barbara; Davidovic, Laetitia] CNRS, Inst Pharmacol Mol & Cellulaire, UMR 7275, F-06560 Valbonne, France.
[Bardoni, Barbara; Davidovic, Laetitia] Univ Nice Sophia Antipolis, F-06103 Nice, France.
RP Davidovic, L (reprint author), CNRS, Inst Pharmacol Mol & Cellulaire, UMR 7275, 660 Route Lucioles, F-06560 Valbonne, France.
EM davidovic@ipmc.cnrs.fr; boris.macek@uni-tuebingen.de
RI Bardoni, Barbara/F-9918-2013
FU CNRS; FRAXA Foundation; Universite de Nice; ANR JCJC MetaboXFra; INSERM;
Agence Nationale de la Recherche [ANR-11-LABX-0028-01, Blanc SVSE4-2012,
Blanc SVSE8-2012]; FP7 PRIME-XS Consortium
FX The authors gratefully thank Prof. E.W. Khandjian (Centre de Recherche
Universite Laval-Robert Giffard, Quebec, Canada) for kindly providing
the SV40-transformed STEK cell line in which were performed experiments
preliminary to this study. L.D. thanks JoeIle Chabry and Gerard Lambeau
(IPMC, Valbonne, France) for providing antibodies and advice for their
use. Our work was supported by CNRS, FRAXA Foundation, Universite de
Nice, and ANR JCJC MetaboXFra (to L.D.), INSERM, Agence Nationale de la
Recherche: ANR-11-LABX-0028-01, Blanc SVSE4-2012, and Blanc SVSE8-2012
(to B.B.), and FP7 PRIME-XS Consortium (to B.M.).
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NR 89
TC 0
Z9 0
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 OCT
PY 2014
VL 13
IS 10
BP 4388
EP 4397
DI 10.1021/pr5006372
PG 10
WC Biochemical Research Methods
SC Biochemistry & Molecular Biology
GA AQ3UO
UT WOS:000342719200016
PM 25168779
ER
PT J
AU Chen, MH
Su, TP
Chen, YS
Hsu, JW
Huang, KL
Chang, WH
Chen, TJ
Pan, TL
Bai, YM
AF Chen, Mu-Hong
Su, Tung-Ping
Chen, Ying-Sheue
Hsu, Ju-Wei
Huang, Kai-Lin
Chang, Wen-Han
Chen, Tzeng-Ji
Pan, Tai-Long
Bai, Ya-Mei
TI Is atopy in early childhood a risk factor for ADHD and ASD? A
longitudinal study
SO JOURNAL OF PSYCHOSOMATIC RESEARCH
LA English
DT Article
DE Atopy; ASD; ADHD
ID DEFICIT HYPERACTIVITY DISORDER; ATTENTION-DEFICIT/HYPERACTIVITY
DISORDER; ALLERGIC DISEASES; TIME TRENDS; ASTHMA; CHILDREN; ASSOCIATION;
AUTISM; COMORBIDITY; PREVALENCE
AB Objective: Previous studies have found a temporal concordance in the increased prevalence of atopic diathesis/atopic diseases, attention-deficit hyperactivity disorder (ADHD), and autistic spectrum disorder (ASD) worldwide. But, the temporal association among these 3 distinct diseases is unknown.
Method: 14,812 atopic subjects diagnosed with any atopic disease (asthma, atopic dermatitis, allergic rhinitis, or allergic conjunctivitis) before the age of 3 (atopic cohort) and 6944 non-atopic subjects with no lifetime atopic disease (non-atopic cohort), born between 1997 and 2000, were enrolled and followed to December 31, 2010 to identify the development of ADHD and ASD.
Results: The presence of any atopic disease in early childhood increased the risk of developing ADHD (hazard ratio [HR]: 1.97) and ASD (HR: 3.40) in later life. Greater numbers of atopic comorbidities (4 comorbidities: ADHD: HR: 253; ASD: HR: 429) were significantly related to a greater risk of developing ADHD and ASD.
Discussion: Atopic diathesis in early childhood elevated the risk of developing ADHD and ASD in later life, with the dose-dependent relationship of more atopic comorbidities with a greater likelihood of ADHD and ASD. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Chen, Mu-Hong; Su, Tung-Ping; Chen, Ying-Sheue; Hsu, Ju-Wei; Huang, Kai-Lin; Chang, Wen-Han; Bai, Ya-Mei] Taipei Vet Gen Hosp, Dept Psychiat, Taipei, Taiwan.
[Chen, Mu-Hong; Su, Tung-Ping; Chen, Ying-Sheue; Hsu, Ju-Wei; Huang, Kai-Lin; Chang, Wen-Han; Bai, Ya-Mei] Natl Yang Ming Univ, Coll Med, Dept Psychiat, Taipei 112, Taiwan.
[Chen, Tzeng-Ji] Taipei Vet Gen Hosp, Dept Family Med, Taipei, Taiwan.
[Su, Tung-Ping; Bai, Ya-Mei] Natl Yang Ming Univ, Inst Brain Sci, Taipei 112, Taiwan.
[Chen, Tzeng-Ji] Natl Yang Ming Univ, Inst Hosp & Hlth Care Adm, Taipei 112, Taiwan.
[Pan, Tai-Long] Chang Gung Univ, Sch Tradit Chinese Med, Taoyuan, Taiwan.
[Pan, Tai-Long] Chang Gung Univ Sci & Technol, Res Ctr Ind Human Ecol, Taoyuan, Taiwan.
RP Bai, YM (reprint author), Dept Psychiat, 201 Shih Pai Rd,Sec 2, Taipei 11217, Taiwan.
EM ymbi@mail2000.com.tw
FU Taipei Veterans General Hospital [V103E10-001]
FX The study was supported by grant from Taipei Veterans General Hospital
(V103E10-001).
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NR 45
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0022-3999
EI 1879-1360
J9 J PSYCHOSOM RES
JI J. Psychosomat. Res.
PD OCT
PY 2014
VL 77
IS 4
BP 316
EP 321
DI 10.1016/j.jpsychores.2014.06.006
PG 6
WC Psychiatry
SC Psychiatry
GA AQ5ZK
UT WOS:000342886900010
PM 25280829
ER
PT J
AU Narzisi, G
O'Rawe, JA
Iossifov, I
Fang, H
Lee, YH
Wang, ZH
Wu, YY
Lyon, GJ
Wigler, M
Schatz, MC
AF Narzisi, Giuseppe
O'Rawe, Jason A.
Iossifov, Ivan
Fang, Han
Lee, Yoon-ha
Wang, Zihua
Wu, Yiyang
Lyon, Gholson J.
Wigler, Michael
Schatz, Michael C.
TI Accurate de novo and transmitted indel detection in exome-capture data
using microassembly
SO NATURE METHODS
LA English
DT Article
ID HUMAN GENOMES; MUTATIONS; AUTISM; VARIANTS; INSERTIONS; DELETIONS;
SPECTRUM; READS; SNP
AB We present an open-source algorithm, Scalpel (http://scalpel.sourceforge.net/), which combines mapping and assembly for sensitive and specific discovery of insertions and deletions (indels) in exome-capture data. A detailed repeat analysis coupled with a self-tuning k-mer strategy allows Scalpel to outperform other state-of-the-art approaches for indel discovery, particularly in regions containing near-perfect repeats. We analyzed 593 families from the Simons Simplex Collection and demonstrated Scalpel's power to detect long (>= 30 bp) transmitted events and enrichment for de novo likely gene-disrupting indels in autistic children.
C1 [Narzisi, Giuseppe; Iossifov, Ivan; Lee, Yoon-ha; Wang, Zihua; Wigler, Michael; Schatz, Michael C.] Cold Spring Harbor Lab, Simons Ctr Quantitat Biol, Cold Spring Harbor, NY 11724 USA.
[Narzisi, Giuseppe] New York Genome Ctr, New York, NY USA.
[O'Rawe, Jason A.; Fang, Han; Wu, Yiyang; Lyon, Gholson J.] Cold Spring Harbor Lab, Stanley Inst Cognit Genom, Cold Spring Harbor, NY 11724 USA.
[O'Rawe, Jason A.; Fang, Han; Wu, Yiyang; Lyon, Gholson J.] SUNY Stony Brook, Stony Brook, NY 11794 USA.
RP Narzisi, G (reprint author), Cold Spring Harbor Lab, Simons Ctr Quantitat Biol, POB 100, Cold Spring Harbor, NY 11724 USA.
EM gnarzisi@cshl.edu
FU US National Institutes of Health [R01-HG006677]; US National Science
Foundation [DBI-1350041]; Cold Spring Harbor Laboratory (CSHL) Cancer
Center Support Grant [5P30CA045508]; Stanley Institute for Cognitive
Genomics; Simons Foundation [SF51, SF235988]
FX The project was supported in part by the US National Institutes of
Health (R01-HG006677) and US National Science Foundation (DBI-1350041)
to M.C.S. and by the Cold Spring Harbor Laboratory (CSHL) Cancer Center
Support Grant (5P30CA045508), the Stanley Institute for Cognitive
Genomics and the Simons Foundation (SF51 and SF235988) to M.W. The DNA
samples used in this work are included within SSC release 13. Approved
researchers can obtain the SSC population data set described in this
study by applying at https://base.sfari.org/. We thank S. Eskipehlivan
for the technical assistance with the MiSeq validation experiments. We
thank M. Bekritsky, S. Neuburgerand, M. Ronemus, D. Levy, B. Yamron and
B. Mishra for helpful discussions and comments on the paper. We thank R.
Aboukhalil for testing the software.
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NR 26
TC 6
Z9 6
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1548-7091
EI 1548-7105
J9 NAT METHODS
JI Nat. Methods
PD OCT
PY 2014
VL 11
IS 10
BP 1033
EP 1036
DI 10.1038/NMETH.3069
PG 4
WC Biochemical Research Methods
SC Biochemistry & Molecular Biology
GA AQ3UN
UT WOS:000342719100021
PM 25128977
ER
PT J
AU Boggon, R
Glover, G
Ridge, K
Avery, R
AF Boggon, Rachael
Glover, Gyles
Ridge, Keith
Avery, Ray
TI Use of Psychotropic Medication for People with Learning Disability or
Autism in England: A Descriptive Study Using the Clinical Practice
Research Datalink
SO PHARMACOEPIDEMIOLOGY AND DRUG SAFETY
LA English
DT Meeting Abstract
C1 [Boggon, Rachael] Clin Practice Res Datalink, London, England.
[Glover, Gyles] Publ Hlth England, Cambridge, England.
[Ridge, Keith; Avery, Ray] NHS England, Leeds, W Yorkshire, England.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1053-8569
EI 1099-1557
J9 PHARMACOEPIDEM DR S
JI Pharmacoepidemiol. Drug Saf.
PD OCT
PY 2014
VL 23
SU 1
SI SI
MA 167
BP 89
EP 90
PG 2
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AQ4JZ
UT WOS:000342763600167
ER
PT J
AU Croteau, C
Mottron, L
Dorais, M
Tarride, JE
Perreault, S
AF Croteau, Caroline
Mottron, Laurent
Dorais, Marc
Tarride, Jean-Eric
Perreault, Sylvie
TI Follow-Up of Psychoactive Drug Use in Newly Diagnosed Patients with
Autism Spectrum Disorder (ASD) in Quebec (Canada)
SO PHARMACOEPIDEMIOLOGY AND DRUG SAFETY
LA English
DT Meeting Abstract
C1 [Croteau, Caroline; Perreault, Sylvie] Univ Montreal, Fac Pharm, Montreal, PQ H3C 3J7, Canada.
[Mottron, Laurent] Hop Riviere des Prairies, Montreal, PQ, Canada.
[Dorais, Marc] StatSciences, Stat, Montreal, PQ, Canada.
[Tarride, Jean-Eric] Mac Master Univ, Hamilton, ON, Canada.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1053-8569
EI 1099-1557
J9 PHARMACOEPIDEM DR S
JI Pharmacoepidemiol. Drug Saf.
PD OCT
PY 2014
VL 23
SU 1
SI SI
MA 177
BP 95
EP 96
PG 2
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AQ4JZ
UT WOS:000342763600177
ER
PT J
AU Cheng, CL
Man, KKC
Hsia, YF
Yang, YHK
Wong, ICK
AF Cheng, Ching-Lan
Man, Kenneth K. C.
Hsia, Yingfen
Yang, Yea-Huei Kao
Wong, Ian C. K.
TI Drug Utilization Pattern in Children with Autism Spectrum Disorder (ASD)
in Asian Countries: A Population Based Study
SO PHARMACOEPIDEMIOLOGY AND DRUG SAFETY
LA English
DT Meeting Abstract
C1 [Cheng, Ching-Lan; Yang, Yea-Huei Kao] Natl Cheng Kung Univ, Inst Clin Pharm & Pharmaceut Sci, Tainan 70101, Taiwan.
[Man, Kenneth K. C.; Wong, Ian C. K.] Univ Hong Kong, Dept Pharmacol & Pharm, Hong Kong, Hong Kong, Peoples R China.
[Hsia, Yingfen] UCL, Sch Pharm, Ctr Paediat Pharm Res, London, England.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1053-8569
EI 1099-1557
J9 PHARMACOEPIDEM DR S
JI Pharmacoepidemiol. Drug Saf.
PD OCT
PY 2014
VL 23
SU 1
SI SI
MA 381
BP 201
EP 201
PG 1
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AQ4JZ
UT WOS:000342763600379
ER
PT J
AU Croteau, C
Mottron, L
Dorais, M
Tarride, JE
Perreault, S
AF Croteau, Caroline
Mottron, Laurent
Dorais, Marc
Tarride, Jean-Eric
Perreault, Sylvie
TI Psychiatric Health Care Utilisation and Related Costs in Newly Diagnosed
Patients with Autism Spectrum Disorder (ASD) in Quebec (Canada)
SO PHARMACOEPIDEMIOLOGY AND DRUG SAFETY
LA English
DT Meeting Abstract
C1 [Croteau, Caroline; Perreault, Sylvie] Univ Montreal, Fac Pharm, Montreal, PQ H3C 3J7, Canada.
[Mottron, Laurent] Hop Riviere Prairies, Montreal, PQ, Canada.
[Dorais, Marc] StatSciences Inc, Stat, Montreal, PQ, Canada.
[Tarride, Jean-Eric] Mac Master Univ, Hamilton, ON, Canada.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1053-8569
EI 1099-1557
J9 PHARMACOEPIDEM DR S
JI Pharmacoepidemiol. Drug Saf.
PD OCT
PY 2014
VL 23
SU 1
SI SI
MA 529
BP 280
EP 280
PG 1
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AQ4JZ
UT WOS:000342763600525
ER
PT J
AU Bishop, J
Najjar, F
Rubin, L
Owley, T
Guter, S
Cook, E
AF Bishop, Jeffrey
Najjar, Fedra
Rubin, Leah
Owley, Thomas
Guter, Stephen
Cook, Edwin, Jr.
TI Escitalopram pharmacogenetics: association between CYP2C19 and tolerance
to a forced dose titration schedule in the treatment of Autism Spectrum
Disorders (ASD).
SO PHARMACOTHERAPY
LA English
DT Meeting Abstract
CT Annual Meeting of the American-College-of-Clinical-Pharmacy (ACCP)
CY OCT 12-15, 2014
CL Austin, TX
SP Amer Coll Clin Pharm
C1 [Bishop, Jeffrey] Univ Illinois, Dept Pharm Practice, Chicago, IL USA.
[Najjar, Fedra; Rubin, Leah; Cook, Edwin, Jr.] Univ Illinois, Dept Psychiat, Chicago, IL 60612 USA.
[Owley, Thomas] Rush Univ, Med Ctr, Dept Psychiat, Chicago, IL USA.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0277-0008
EI 1875-9114
J9 PHARMACOTHERAPY
JI Pharmacotherapy
PD OCT
PY 2014
VL 34
IS 10
MA 170
BP E221
EP E221
PG 1
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AQ6JF
UT WOS:000342916800129
ER
PT J
AU Ivorra, JL
Rivero, O
Costas, J
Iniesta, R
Arrojo, M
Ramos-Rios, R
Carracedo, A
Palomo, T
Rodriguez-Jimenez, R
Cervilla, J
Gutierrez, B
Molina, E
Arango, C
Alvarez, M
Pascual, JC
Perez, V
Saiz, PA
Garcia-Portilla, MP
Bobes, J
Gonzalez-Pinto, A
Zorrilla, I
Haro, JM
Bernardo, M
Baca-Garcia, E
Gonzalez, JC
Hoenicka, J
Molto, MD
Sanjuan, J
AF Luis Ivorra, Jose
Rivero, Olga
Costas, Javier
Iniesta, Raquel
Arrojo, Manuel
Ramos-Rios, Ramon
Carracedo, Angel
Palomo, Tomas
Rodriguez-Jimenez, Roberto
Cervilla, Jorge
Gutierrez, Blanca
Molina, Esther
Arango, Celso
Alvarez, Mar
Pascual, Juan C.
Perez, Vctor
Alejandra Saiz, Pilar
Paz Garcia-Portilla, Maria
Bobes, Julio
Gonzalez-Pinto, Ana
Zorrilla, Inaki
Maria Haro, Josep
Bernardo, Miguel
Baca-Garcia, Enrique
Carlos Gonzalez, Jose
Hoenicka, Janet
Dolores Molto, Maria
Sanjuan, Julio
TI Replication of previous genome-wide association studies of psychiatric
diseases in a large schizophrenia case-control sample from Spain
SO SCHIZOPHRENIA RESEARCH
LA English
DT Article
DE GWAS; Schizophrenia; Bipolar disorder; ODZ4; Polygenic score;
Replication study
ID BIPOLAR DISORDER; COMMON VARIANTS; RISK; AUTISM; LOCI; IDENTIFICATION;
POPULATION; CACNA1C; DISRUPTION; SUPPORTS
AB Genome wide association studies (GWAS) has allowed the discovery of some interesting risk variants for schizophrenia (SCZ). However, this high-throughput approach presents some limitations, being the most important the necessity of highly restrictive statistical corrections as well as the loss of statistical power inherent to the use of a Single Nucleotide Polymorphism (SNP) analysis approach. These problems can be partially solved through the use of a polygenic approach. We performed a genotyping study in SCZ using 86 previously associated SNPs identified by GWAS of SCZ, bipolar disorder (BPD) and autistic spectrum disorder (ASD) patients. The sample consisted of 3063 independent cases with DSM-IV-TR diagnosis of SCZ and 2847 independent controls of European origin from Spain. A polygenic score analysis was also used to test the overall effect on the SCZ status. One SNP, rs12290811, located in the ODZ4 gene reached statistical significance (p = 1.7 x 10(-4), Allelic odds ratio = 1.21), a value very near to those reported in previous GWAS of BPD patients. In addition, 4 SNPs were close to the significant threshold: rs3850333, in the NRXN1 gene; rs6932590, at MHC; rs2314398, located in an intergenic region on chromosome 2; and rs1006737, in the CACNA1C gene. We also found that 74% of the studied SNPs showed the same tendency (risk or protection alleles) previously reported in the original GWAS (p < 0.001). Our data strengthen the polygenic component of susceptibility to SCZ. Our findings show ODZ4 as a risk gene for SCZ, emphasizing the existence of common vulnerability in psychosis. (C) 2014 Published by Elsevier B. V.
C1 [Luis Ivorra, Jose; Rivero, Olga; Palomo, Tomas; Rodriguez-Jimenez, Roberto; Cervilla, Jorge; Gutierrez, Blanca; Molina, Esther; Arango, Celso; Alvarez, Mar; Pascual, Juan C.; Perez, Vctor; Alejandra Saiz, Pilar; Paz Garcia-Portilla, Maria; Bobes, Julio; Gonzalez-Pinto, Ana; Zorrilla, Inaki; Maria Haro, Josep; Bernardo, Miguel; Baca-Garcia, Enrique; Carlos Gonzalez, Jose; Hoenicka, Janet; Dolores Molto, Maria; Sanjuan, Julio] CIBERSAM, Madrid, Spain.
[Luis Ivorra, Jose] Univ Leeds, Fac Biol Sci, Sch Biomed Sci, Leeds, W Yorkshire, England.
[Rivero, Olga] Univ Wurzburg, Div Mol Psychiat, Lab Translat Neurosci, Dept Psychiat Psychosomat & Psychotherapy, D-97070 Wurzburg, Germany.
[Costas, Javier; Arrojo, Manuel; Ramos-Rios, Ramon] CHUS, Serv Galego Saude SERGAS, Inst Invest Sanitaria IDIS Santiago de Compostela, Santiago De Compostela, Spain.
[Iniesta, Raquel; Maria Haro, Josep] Fdn St Joan de Deu, Barcelona, Spain.
[Carracedo, Angel] Univ Santiago de Compostela, CIBERER, Grp Med Xenom, Fdn Publ Galega Med Xenom, Santiago De Compostela, Spain.
[Palomo, Tomas; Rodriguez-Jimenez, Roberto; Hoenicka, Janet] Univ 12 Octubre, Dept Psychiat, Inst Invest Hosp, Madrid, Spain.
[Cervilla, Jorge] Kings Coll London, Ctr Publ Mental Hlth, Hlth Serv & Populat Res Dept, Inst Psychiat, London WC2R 2LS, England.
[Gutierrez, Blanca; Molina, Esther] Univ Granada, Fac Med, Granada, Spain.
[Arango, Celso; Alvarez, Mar] Univ Complutense, Child & Adolescent Psychiat Dept, Inst Invest Sanitaria Gregorio Maranon, IiSGM,Hosp Gen Univ Gregorio Maranon,Fac Med, E-28040 Madrid, Spain.
[Pascual, Juan C.] Hosp Santa Creu & Sant Pau, Dept Psychiat, Barcelona, Spain.
[Perez, Vctor] Univ Autonoma Barcelona, Hosp del Mar, Inst Neuropsiquiatria & Add, E-08193 Barcelona, Spain.
[Alejandra Saiz, Pilar; Paz Garcia-Portilla, Maria; Bobes, Julio] Univ Oviedo, Area Psiquiatria, Oviedo, Spain.
[Gonzalez-Pinto, Ana; Zorrilla, Inaki] Hosp Santiago Apostol Vitoria, Vitoria, Spain.
[Bernardo, Miguel] Univ Barcelona, Hosp Clin Barcelona, Inst Neurosci,Dept Psychiat & Clin Psychobiol, Schizophrenia Unit,IDIBAPS, Barcelona, Spain.
[Baca-Garcia, Enrique] Univ Autonoma Madrid, Fdn Jimenez Diaz, Dept Psychiat, E-28049 Madrid, Spain.
[Carlos Gonzalez, Jose; Sanjuan, Julio] Univ Valencia, Hosp Clin, INCLIVA, Valencia, Spain.
[Hoenicka, Janet] Ctr Invest Principe Felipe, Valencia, Spain.
[Dolores Molto, Maria] Univ Valencia, Fac Biol, Dept Genet, INCLIVA, Valencia, Spain.
RP Sanjuan, J (reprint author), Univ Valencia, Fac Med, Dept Med, Unidad Psiquiatria, Avinguda Blasco Ibanez 15, Valencia 46010, Spain.
EM Julio.sanjuan@uv.es
RI Costas, Javier/B-5016-2008; Gutierrez, Blanca/K-9699-2014; Baca-Garcia,
Enrique/F-4106-2015
OI Costas, Javier/0000-0003-0306-3990; Gutierrez,
Blanca/0000-0002-2750-8440; Baca-Garcia, Enrique/0000-0002-6963-6555
FU Ministerio de Economia y Competitividad, Spain; Instituto de Salud
Carlos III, Spain; Centro de Investigacion Biomedica en Red de Salud
Mental CIBERSAM, Spain; Research Support Fellowship from Instituto de
Investigacion Sanitaria INCLIVA, Spain
FX This work was supported by the Ministerio de Economia y Competitividad,
the Instituto de Salud Carlos III and The Centro de Investigacion
Biomedica en Red de Salud Mental CIBERSAM, all of them from Spain.
Financial support of this work comes from a Research Support Fellowship
from Instituto de Investigacion Sanitaria INCLIVA, Spain.
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NR 48
TC 2
Z9 2
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0920-9964
EI 1573-2509
J9 SCHIZOPHR RES
JI Schizophr. Res.
PD OCT
PY 2014
VL 159
IS 1
BP 107
EP 113
DI 10.1016/j.schres.2014.07.004
PG 7
WC Psychiatry
SC Psychiatry
GA AQ8TY
UT WOS:000343107400018
PM 25124521
ER
PT J
AU Saito, Y
Suga, M
Tochigi, M
Abe, O
Yahata, N
Kawakubo, Y
Liu, XX
Kawamura, Y
Sasaki, T
Kasai, K
Yamasue, H
AF Saito, Yuki
Suga, Motomu
Tochigi, Mamoru
Abe, Osamu
Yahata, Noriaki
Kawakubo, Yuki
Liu, Xiaoxi
Kawamura, Yoshiya
Sasaki, Tsukasa
Kasai, Kiyoto
Yamasue, Hidenori
TI Neural correlate of autistic-like traits and a common allele in the
oxytocin receptor gene
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE asperger; endophenotype; imaging genetics; pervasive developmental
disorder; sex difference
ID SPECTRUM QUOTIENT AQ; HEALTHY CAUCASIAN ADULTS; EXTENDED LIMBIC SYSTEM;
SOCIAL-BEHAVIOR; FUNCTIONING AUTISM; OXTR POLYMORPHISM; BRAIN-REGIONS;
WHITE-MATTER; POPULATION; DISORDERS
AB Sub-clinical autistic-like traits (ALTs) are continuously distributed in the general population and genetically linked to autism. Although identifying the neurogenetic backgrounds of ALTs might enhance our ability to identify those of autism, they are largely unstudied. Here, we have examined the neuroanatomical basis of ALTs and their association with the oxytocin receptor gene (OXTR) rs2254298A, a known risk allele for autism in Asian populations which has also been implicated in limbic-paralimbic brain structures. First, we extracted a four-factor structure of ALTs, as measured using the Autism-Spectrum Quotient, including 'prosociality', 'communication', 'details/patterns' and 'imagination' in 135 neurotypical adults (79 men, 56 women) to reduce the genetic heterogeneity of ALTs. Then, in the same population, voxel-based morphometry revealed that lower 'prosociality', which indicates strong ALTs, was significantly correlated to smaller regional grey matter volume in the right insula in males. Males with lower 'prosociality' also had less interregional structural coupling between the right insula and the ventral anterior cingulate cortex. Furthermore, males with OXTR rs2254298A had significantly smaller grey matter volume in the right insula. These results show that decreased volume of the insula is a neuroanatomical correlate of ALTs and a potential intermediate phenotype linking ALTs with OXTR in male subjects.
C1 [Saito, Yuki; Suga, Motomu; Tochigi, Mamoru; Yahata, Noriaki; Kasai, Kiyoto; Yamasue, Hidenori] Univ Tokyo, Grad Sch Med, Dept Neuropsychiat, Bunkyo Ku, Tokyo 1138655, Japan.
[Abe, Osamu] Nihon Univ, Sch Med, Dept Radiol, Itabashi Ku, Tokyo 1738610, Japan.
[Yahata, Noriaki] Univ Tokyo, Global Ctr Excellence COE Program, Grad Sch Med, Tokyo 1138655, Japan.
[Kawakubo, Yuki] Univ Tokyo, Grad Sch Med, Dept Child Psychiat, Tokyo 1138655, Japan.
[Liu, Xiaoxi] Univ Tokyo, Grad Sch Med, Dept Human Genet, Tokyo 1138655, Japan.
[Kawamura, Yoshiya; Sasaki, Tsukasa] Univ Tokyo, Hlth Serv Ctr, Bunkyo Ku, Tokyo 1138655, Japan.
[Yamasue, Hidenori] Japan Sci & Technol Agcy, CREST, Chiyoda Ku, Tokyo 1020075, Japan.
RP Yamasue, H (reprint author), Univ Tokyo, Grad Sch Med, Dept Neuropsychiat, Bunkyo Ku, 7-3-1 Hongo, Tokyo 1138655, Japan.
EM yamasue-tky@umin.ac.jp
FU Ministry of Education, Culture, Sports, Science and Technology
[22689034, 20591378]
FX Part of this study was supported by Grants-in-Aid for Scientific
Research (22689034 to H.Y.; 20591378 to N.Y.) and the 'Development of
biomarker candidates for social behavior' project carried out under the
Strategic Research Program for Brain Sciences by the Ministry of
Education, Culture, Sports, Science and Technology. There was no role of
the study sponsor(s) in study design, in the collection, analysis and
interpretation of data, in the writing of the report, or in the decision
to submit the paper for publication.
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NR 69
TC 1
Z9 1
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1749-5016
EI 1749-5024
J9 SOC COGN AFFECT NEUR
JI Soc. Cogn. Affect. Neurosci.
PD OCT
PY 2014
VL 9
IS 10
BP 1443
EP 1450
DI 10.1093/scan/nst136
PG 8
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IR
UT WOS:000342986700001
PM 23946005
ER
PT J
AU Schneiderman, I
Kanat-Maymon, Y
Ebstein, RP
Feldman, R
AF Schneiderman, Inna
Kanat-Maymon, Yaniv
Ebstein, Richard P.
Feldman, Ruth
TI Cumulative risk on the oxytocin receptor gene (OXTR) underpins empathic
communication difficulties at the first stages of romantic love
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE oxytocin; OXTR; empathy; romantic relationships; bonding; genetic risk
ID SOCIAL-BEHAVIOR; SEROTONIN TRANSPORTER; PARTNER PREFERENCE;
BLOOD-PRESSURE; ASSOCIATION; AUTISM; ATTACHMENT; AMYGDALA; SUPPORT;
RESPONSES
AB Empathic communication between couples plays an important role in relationship quality and individual well-being and research has pointed to the role of oxytocin in providing the neurobiological substrate for pair-bonding and empathy. Here, we examined links between genetic variability on the oxytocin receptor gene (OXTR) and empathic behaviour at the initiation of romantic love. Allelic variations on five OXTR single nucleotide polymorphisms (SNPs) previously associated with susceptibility to disorders of social functioning were genotyped in 120 new lovers: OXTRrs13316193, rs2254298, rs1042778, rs2268494 and rs2268490. Cumulative genetic risk was computed by summing risk alleles on each SNP. Couples were observed in support-giving interaction and behaviour was coded for empathic communication, including affective congruence, maintaining focus on partner, acknowledging partner's distress, reciprocal exchange and non-verbal empathy. Hierarchical linear modelling indicated that individuals with high OXTR risk exhibited difficulties in empathic communication. OXTR risk predicted empathic difficulties above and beyond the couple level, relationship duration, and anxiety and depressive symptoms. Findings underscore the involvement of oxytocin in empathic behaviour during the early stages of social affiliation, and suggest the utility of cumulative risk and plasticity indices on the OXTR as potential biomarkers for research on disorders of social dysfunction and the neurobiology of empathy.
C1 [Feldman, Ruth] Bar Ilan Univ, Dept Psychol, IL-52900 Ramat Gan, Israel.
RP Feldman, R (reprint author), Bar Ilan Univ, Dept Psychol, IL-52900 Ramat Gan, Israel.
EM feldman@mail.biu.ac.il
FU German-Israeli Foundation [1114-101.4/2010]; Irving B. Harris
Foundation, Israel Center for Excellence (ICORE)
FX The study was supported by the German-Israeli Foundation
(#1114-101.4/2010) and the Irving B. Harris Foundation, Israel Center
for Excellence (ICORE) to Ruth Feldman.
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NR 83
TC 5
Z9 5
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1749-5016
EI 1749-5024
J9 SOC COGN AFFECT NEUR
JI Soc. Cogn. Affect. Neurosci.
PD OCT
PY 2014
VL 9
IS 10
BP 1524
EP 1529
DI 10.1093/scan/nst142
PG 6
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IR
UT WOS:000342986700011
PM 23974948
ER
PT J
AU Stavropoulos, KKM
Carver, LJ
AF Stavropoulos, Katherine K. M.
Carver, Leslie J.
TI Reward sensitivity to faces versus objects in children: an ERP study
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE event-related potentials; reward processing; faces; children; social
motivation
ID STIMULUS-PRECEDING NEGATIVITY; TIME-ESTIMATION TASK; FACIAL
ATTRACTIVENESS; FEEDBACK STIMULI; INSULAR CORTEX; HEART-RATE;
ANTICIPATION; PUNISHMENT; MONETARY; CONTINGENCY
AB How children respond to social and nonsocial rewards has important implications for understanding social cognitive development. Adults find faces intrinsically rewarding. However, little is known about how children respond to face vs nonface rewards. We utilized event-related potentials (the stimulus-preceding negativity, SPN) to measure differences in reward anticipation during a guessing game in 6 -to 8-year-olds. Children were presented with reward indicators accompanied by incidental face or nonface stimuli. Nonface stimuli were comprised of scrambled faces in the shape of arrows, controlling for low-level properties of the two conditions. Children showed an increased SPN when the reward stimuli were accompanied by faces, relative to nonface stimuli. This suggests that children find a face stimulus more rewarding than a nonface stimulus. The results have important implications for processing social vs nonsocial rewards in typically developing children, and allow testing of populations with deficits in social reward processing, such as autism spectrum disorder.
C1 [Stavropoulos, Katherine K. M.; Carver, Leslie J.] Univ Calif San Diego, Dept Psychol, La Jolla, CA 92093 USA.
[Carver, Leslie J.] Univ Calif San Diego, Human Dev Program, La Jolla, CA 92093 USA.
RP Stavropoulos, KKM (reprint author), Univ Calif San Diego, Dept Psychol, 9500 Gilman Dr, La Jolla, CA 92093 USA.
EM kmeltzof@ucsd.edu
FU Autism Speaks' Dennis Weatherstone Predoctoral Fellowship [7844];
National Institute of Health/National Institute of Child Health and
Human Development [NIH/NICHD R01 HD052804-01A2]; National Institute of
Neurological Disorders and Stroke/National Institute of Health
[NINDS/NIH R01NS071580-01]
FX K.K.M.S. is supported by Autism Speaks' Dennis Weatherstone Predoctoral
Fellowship (7844). L.J.C. is supported by the National Institute of
Health/National Institute of Child Health and Human Development
(NIH/NICHD R01 HD052804-01A2) and the National Institute of Neurological
Disorders and Stroke/National Institute of Health (NINDS/NIH
R01NS071580-01).
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NR 38
TC 3
Z9 3
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1749-5016
EI 1749-5024
J9 SOC COGN AFFECT NEUR
JI Soc. Cogn. Affect. Neurosci.
PD OCT
PY 2014
VL 9
IS 10
BP 1569
EP 1575
DI 10.1093/scan/nst149
PG 7
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IR
UT WOS:000342986700017
PM 24036961
ER
PT J
AU Alaerts, K
Woolley, DG
Steyaert, J
Di Martino, A
Swinnen, SP
Wenderoth, N
AF Alaerts, Kaat
Woolley, Daniel G.
Steyaert, Jean
Di Martino, Adriana
Swinnen, Stephan P.
Wenderoth, Nicole
TI Underconnectivity of the superior temporal sulcus predicts emotion
recognition deficits in autism
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE autism spectrum disorders; superior temporal sulcus; functional
connectivity; functional magnetic resonance imaging; emotion recognition
ID FUNCTIONAL CONNECTIVITY MRI; BIOLOGICAL MOTION PERCEPTION; SPECTRUM
DISORDERS; ASPERGER-SYNDROME; DIAGNOSTIC INTERVIEW; SOCIAL-PERCEPTION;
BRAIN; CHILDREN; INDIVIDUALS; FMRI
AB Neurodevelopmental disconnections have been assumed to cause behavioral alterations in autism spectrum disorders (ASDs). Here, we combined measurements of intrinsic functional connectivity (iFC) from resting-state functional magnetic resonance imaging (fMRI) with task-based fMRI to explore whether altered activity and/or iFC of the right posterior superior temporal sulcus (pSTS) mediates deficits in emotion recognition in ASD. Fifteen adults with ASD and 15 matched-controls underwent resting-state and task-based fMRI, during which participants discriminated emotional states from point light displays (PLDs). Intrinsic FC of the right pSTS was further examined using 584 (278 ASD/306 controls) resting-state data of the Autism Brain Imaging Data Exchange (ABIDE). Participants with ASD were less accurate than controls in recognizing emotional states from PLDs. Analyses revealed pronounced ASD-related reductions both in task-based activity and resting-state iFC of the right pSTS with fronto-parietal areas typically encompassing the action observation network (AON). Notably, pSTS-hypo-activity was related to pSTS-hypo-connectivity, and both measures were predictive of emotion recognition performance with each measure explaining a unique part of the variance. Analyses with the large independent ABIDE dataset replicated reductions in pSTS-iFC to fronto-parietal regions. These findings provide novel evidence that pSTS hypo-activity and hypo-connectivity with the fronto-parietal AON are linked to the social deficits characteristic of ASD.
C1 [Alaerts, Kaat; Woolley, Daniel G.; Swinnen, Stephan P.; Wenderoth, Nicole] Katholieke Univ Leuven, Grp Biomed Sci, Dept Biomed Kinesiol, Movement Control & Neuroplast Res Grp, B-3000 Leuven, Belgium.
[Alaerts, Kaat; Di Martino, Adriana] NYU, NYU Child Study Ctr, New York, NY 10016 USA.
[Steyaert, Jean] Katholieke Univ Leuven, Res Grp Psychiat, Child & Adolescent Psychiat Dept, B-3000 Leuven, Belgium.
[Wenderoth, Nicole] Univ Zurich, Neural Control Movement Lab, Dept Hlth Sci & Technol, CH-8057 Zurich, Switzerland.
RP Alaerts, K (reprint author), NYU, Ctr Child Study, One Pk Ave,8th Floor, New York, NY 10016 USA.
EM Kaat.Alaerts@faber.kuleuven.be
RI Steyaert, Jean/B-5326-2015; Wenderoth, Nicole/D-7262-2015
OI Steyaert, Jean/0000-0003-2512-4694; Wenderoth,
Nicole/0000-0002-3246-9386
FU Flanders Fund for Scientific Research (FWO) [0749.09]; IAP from the
Interuniversity Attraction Poles program of the Belgian federal
government [P7/21]; Research Council of the University of Leuven
[IDO/08/013]; FWO; Flanders Fund for Scientific Research
[G.0404.12/G.0758.10]; Olin, Institute of Living at Hartford Hospital
[Autism Speaks], Hartford Hospital; Oregon Health and Science University
[R00 MH091238, R01 MH096773, R01 MH086654]; Oregon Health and Science
University [Simon Foundation, Inc.]; Trinity Centre for Health Sciences
[The Meath Foundation, Adelaide]; Trinity Centre for Health Sciences
[Meath Hospital]; Trinity Centre for Health Sciences [National
Children's Hospital (AMNCH), Tallaght]; Trinity Centre for Health
Sciences [Kyulan Family Foundation]; University of Utah, School of
Medicine [National Institutes of Health] [K08 MH092697, RO1MH080826,
P50MH60450, T32DC008553, R01NS34783]; Autism Speaks Mentor-based
Predoctoral Fellowship [1677]; University of Utah Multidisciplinary
Research Seed Grant; NRSA Predoctoral Fellowship [F31 DC010143]; Ben B.
and Iris M. Margolis Foundation; Yale Child Study Center [Simons
Foundation]; Yale Child Study Center [Autism Speaks]; Yale Child Study
Center [John Merck Scholars Fund]; Yale Child Study Center [Autism
Science Foundation]; Yale Child Study Center [NICHD]; Yale Child Study
Center [NIMH]; University of Leuven [G. 0354.06, 6/29]; University of
Leuven [KU Leuven Research Council] [IDO/08/013]; NYU Langone Medical
Center [NIH] [K23MH087770, R21MH084126, R01MH081218, R01HD065282]; NYU
Langone Medical Center [Autism Speaks]; NYU Langone Medical Center
[Stavros Niarchos Foundation]; NYU Langone Medical Center [Leon Levy
Foundation]; University of California, Los Angeles: Sample 1 (UCLA
Autism Center of Excellence); University of California, Los Angeles:
Sample 1 (NICHD) [P50 HD055784]; University of California, Los Angeles:
Sample 1 (NIMH) [1R01 HD065280-01]; University of Michigan [Autism
Speaks]; University of Michigan [NIH] [U19 HD035482, MH066496]; Autism
Speaks Pre-doctoral Fellowship [4773]; Michigan Institute for Clinical
and Health Research (MICHR) Pre-doctoral Fellowship [UL1RR024986]; NIH
[R21 MH079871]
FX We are grateful to all the subjects who voluntarily participated in this
research and to E. Nackaerts for her help with data collection. We thank
I. Noens, J. Wagemans and other members of the Leuven Autism Research
Consortium (LAuRes) for discussion and aid in subject recruitment. This
work was supported by grants from the Flanders Fund for Scientific
Research (FWO project 0749.09), and by IAP grant P7/21 from the
Interuniversity Attraction Poles program of the Belgian federal
government. The study was conducted in collaboration with the LAuRes
funded by the Research Council of the University of Leuven (IDO/08/013).
K. A. is supported by a FWO postdoctoral research fellowship grant. D.
G. W. is supported by grant G.0404.12/G.0758.10 from the Flanders Fund
for Scientific Research.We would also like to thank all the members of
the Autism Brain Imaging Data Exchange Consortium (ABIDE;
http://fcon_1000.projects.nitrc.org/indi/abide/) and Michael P. Milham
and the INDI team (http://fcon_1000.projects.nitrc.org/) supporting the
ABIDE effort. We especially thank the sites whose data were included in
these analyses and their funding sources: (i) Olin, Institute of Living
at Hartford Hospital [Autism Speaks (to M. A.), Hartford Hospital (to M.
A.)], (ii) Oregon Health and Science University [R00 MH091238 (Fair),
R01 MH096773 (Fair), R01 MH086654 (Nigg), Simon Foundation, Inc.
(Nigg)], (iii) Trinity Centre for Health Sciences [The Meath Foundation,
Adelaide and Meath Hospital, incorporating the National Children's
Hospital (AMNCH), Tallaght, and travel fellowship by the Kyulan Family
Foundation], (iv) University of Utah, School of Medicine [National
Institutes of Health (grant numbers: K08 MH092697, RO1MH080826,
P50MH60450, T32DC008553, R01NS34783), Autism Speaks Mentor-based
Predoctoral Fellowship (grant number: 1677), University of Utah
Multidisciplinary Research Seed Grant, NRSA Predoctoral Fellowship
(grant number: F31 DC010143), Ben B. and Iris M. Margolis Foundation],
(v) Yale Child Study Center [Simons Foundation (KP), Autism Speaks (KP),
John Merck Scholars Fund (KP), Autism Science Foundation, NICHD (KP),
NIMH], (vi) University of Leuven: Sample 2 [Fund for Scientific
Research-Flanders (F.W.O.) (research grant G. 0354.06, doctoral mandate
to JV, research grant 1841313N, senior clinical investigator grant to
SS); Belgian Inter University Attraction Pole (grant 6/29); KU Leuven
Research Council (grant IDO/08/013)], (vii) NYU Langone Medical Center
[NIH (K23MH087770; R21MH084126; R01MH081218; R01HD065282), Autism
Speaks, The Stavros Niarchos Foundation, The Leon Levy Foundation, An
endowment provided by Phyllis Green and Randolph Cowen], (viii)
University of California, Los Angeles: Sample 1 (UCLA Autism Center of
Excellence, NICHD P50 HD055784, NIMH 1R01 HD065280-01) and (ix)
University of Michigan: Sample 2 [Autism Speaks (CM), NIH (U19 HD035482
and MH066496 (CL)), Autism Speaks Pre-doctoral Fellowship 4773 (JW),
Michigan Institute for Clinical and Health Research (MICHR) Pre-doctoral
Fellowship UL1RR024986 (JW), NIH R21 MH079871 (SP)].
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NR 82
TC 1
Z9 1
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1749-5016
EI 1749-5024
J9 SOC COGN AFFECT NEUR
JI Soc. Cogn. Affect. Neurosci.
PD OCT
PY 2014
VL 9
IS 10
BP 1589
EP 1600
DI 10.1093/scan/nst156
PG 12
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IR
UT WOS:000342986700020
PM 24078018
ER
PT J
AU Bruno, JL
Garrett, AS
Quintin, EM
Mazaika, PK
Reiss, AL
AF Bruno, Jennifer Lynn
Garrett, Amy S.
Quintin, Eve-Marie
Mazaika, Paul K.
Reiss, Allan L.
TI Aberrant Face and Gaze Habituation in Fragile X Syndrome
SO AMERICAN JOURNAL OF PSYCHIATRY
LA English
DT Article
ID SOCIAL COGNITION; UNDERLYING FACE; FMR1 GENE; AUTISM; CHILDREN; ANXIETY;
IDENTIFICATION; SUPPRESSION; EXPRESSION; PLASTICITY
AB Objective: The authors sought to investigate neural system habituation to face and eye gaze in fragile X syndrome, a disorder characterized by eye-gaze aversion, among other social and cognitive deficits.
Method: Participants (ages 15-25 years) were 30 individuals with fragile X syndrome (females, N=14) and a comparison group of 25 individuals without fragile X syndrome (females, N=12) matched for general cognitive ability and autism symptoms. Functional MRI (fMRI) was used to assess brain activation during a gaze habituation task. Participants viewed repeated presentations of four unique faces with either direct or averted eye gaze and judged the direction of eye gaze.
Results: Four participants (males, N=4/4; fragile X syndrome, N=3) were excluded because of excessive head motion during fMRI scanning. Behavioral performance did not differ between the groups. Less neural habituation (and significant sensitization) in the. fragile X syndrome group was found in the cingulate gyrus, fusiform gyrus, and frontal cortex in response to all faces (direct and averted gaze). Left fusiform habituation in female participants was directly correlated with higher, more typical levels of the fragile X mental retardation protein and inversely correlated with autism symptoms. There was no evidence for differential habituation to direct gaze compared with averted gaze within or between groups.
Conclusions: Impaired habituation and accentuated sensitization in response to face/eye gaze was distributed across multiple levels of neural processing. These results could help inform interventions, such as desensitization therapy, which may help patients with fragile X syndrome modulate anxiety and arousal associated with eye gaze, thereby improving social functioning.
C1 [Reiss, Allan L.] Stanford Univ, Ctr Interdisciplinary Brain Sci Res, Stanford, CA 94305 USA.
Stanford Univ, Dept Radiol, Stanford, CA 94305 USA.
Stanford Univ, Dept Pediat, Stanford, CA 94305 USA.
Georgia Inst Technol, Ctr Adv Brain Imaging, Atlanta, GA 30332 USA.
RP Reiss, AL (reprint author), Stanford Univ, Ctr Interdisciplinary Brain Sci Res, Stanford, CA 94305 USA.
EM areiss1@stanford.edu
FU NIH [5R01-MH50047, T32-MH-19908]; Fonds de Recherche Societe et Culture
Quebec
FX Supported by NIH grants 5R01-MH50047 (to Dr. Reiss) and T32-MH-19908 (to
Drs. Reiss and Bruno) and a postdoctoral grant from the Fonds de
Recherche Societe et Culture Quebec (to Dr. Quintin).
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NR 38
TC 0
Z9 0
PU AMER PSYCHIATRIC PUBLISHING, INC
PI ARLINGTON
PA 1000 WILSON BOULEVARD, STE 1825, ARLINGTON, VA 22209-3901 USA
SN 0002-953X
EI 1535-7228
J9 AM J PSYCHIAT
JI Am. J. Psychiat.
PD OCT
PY 2014
VL 171
IS 10
BP 1099
EP 1106
DI 10.1176/appi.ajp.2014.13111464
PG 8
WC Psychiatry
SC Psychiatry
GA AQ3SM
UT WOS:000342713800015
PM 24969119
ER
PT J
AU Murphy, CM
Christakou, A
Daly, EM
Ecker, C
Giampietro, V
Brammer, M
Smith, AB
Johnston, P
Robertson, DM
Murphy, DG
Rubia, K
AF Murphy, Clodagh M.
Christakou, Anastasia
Daly, Eileen M.
Ecker, Christine
Giampietro, Vincent
Brammer, Michael
Smith, Anna B.
Johnston, Patrick
Robertson, Dene M.
Murphy, Declan G.
Rubia, Katya
CA MRC AIMS Consortium
TI Abnormal Functional Activation and Maturation of Fronto-Striato-Temporal
and Cerebellar Regions During Sustained Attention in Autism Spectrum
Disorder
SO AMERICAN JOURNAL OF PSYCHIATRY
LA English
DT Article
ID DEFICIT HYPERACTIVITY DISORDER; COGNITIVE CONTROL; ASPERGER-SYNDROME;
BRAIN ACTIVATION; CHILDREN; AGE; ADHD; PERFORMANCE; CHILDHOOD;
QUESTIONNAIRE
AB Objective: Sustained attention problems are common in people with autism spectrum disorder (ASD) and may have significant implications for the diagnosis and management of ASD and associated comorbidities. Furthermore, ASD has been associated with atypical structural brain development. The authors used functional MRI to investigate the functional brain maturation of attention between childhood and adulthood in people with ASD.
Method: Using a parametrically modulated sustained attention/vigilance task, the authors examined brain activation and its linear correlation with age between childhood and adulthood in 46 healthy male adolescents and adults (ages 11-35 years) with ASD and 44 age- and IQ-matched typically developing comparison subjects.
Results: Relative to the comparison group, the ASD group had significantly poorer task performance and significantly lower activation in inferior prefrontal cortical, medial prefrontal cortical, striato-thalamic, and lateral cerebellar regions. A conjunction analysis of this analysis with group differences in brain-age correlations showed that the comparison group, but not the ASD group, had significantly progressively increased activation with age in these regions between childhood and adulthood, suggesting abnormal functional brain maturation in ASD. Several regions that showed both abnormal activation and functional maturation were associated with poorer task performance and clinical measures of ASD and inattention.
Conclusions: The results provide first evidence that abnormalities in sustained attention networks in individuals with ASD are associated with underlying abnormalities in the functional brain maturation of these networks between late childhood and adulthood.
C1 [Murphy, Clodagh M.] Kings Coll London, Sackler Inst Translat Neurodev, London WC2R 2LS, England.
Kings Coll London, Dept Forens & Neurodev Sci, London WC2R 2LS, England.
Kings Coll London, Dept Child & Adolescent Psychiat, London WC2R 2LS, England.
Kings Coll London, Ctr Neuroimaging, Inst Psychiat, London WC2R 2LS, England.
South London & Maudsley Fdn NHS Trust, Behav Genet Clin, Adult Autism Serv, Behav & Dev Psychiat Clin Acad Grp, London, England.
Univ Reading, Sch Psychol & Clin Language Sci, Reading, Berks, England.
RP Murphy, CM (reprint author), Kings Coll London, Sackler Inst Translat Neurodev, London WC2R 2LS, England.
EM clodagh.m.murphy@kcl.ac.uk
RI Williams, Steve/D-6979-2011; Ecker, Christine/E-5194-2010
FU Lilly; U.K. MRC [MRC GO300155]; MRC Autism Imaging Multicentre Study
(MRC AIMS); EU Innovative Medicines Initiative (IMI) AIMS network;
Innovative Medicines Initiative Joint Undertaking [115300]; EU Seventh
Framework Programme; European Federation of Pharmaceutical Industries
and Associations; Sackler Institute for Translational Neurodevelopment;
MRC
FX Dr. C.M. Murphy has received funding from Lilly and speaking honoraria
from Shire and Flynn Pharma. Professor Brammer has served as a
consultant for P1Vital. Professor Rubia has received funding from Lilly
and speaking honoraria from Lilly, Shire, and Medice. The other authors
report no financial relationships with commercial interests.Supported by
grant MRC GO300155 (to Professor Rubia) from the U.K. MRC; by a grant
(to Prof. D.G. Murphy) from the MRC Autism Imaging Multicentre Study
(MRC AIMS); by a grant (to Prof. D.G. Murphy) from the EU Innovative
Medicines Initiative (IMI) AIMS network (receiving support from the
Innovative Medicines Initiative Joint Undertaking under grant agreement
115300, which includes financial contributions from the EU Seventh
Framework Programme [FP7/2007-2013] and from the European Federation of
Pharmaceutical Industries and Associations); and a grant (to Prof. D.G.
Murphy) from the Sackler Institute for Translational
Neurodevelopment.The MRC AIMS Consortium is a collaboration of autism
research centers in the United Kingdom including the Institute of
Psychiatry, London; the Autism Research Centre, University of Cambridge;
and the Autism Research Group, University of Oxford. It is funded by the
MRC and headed by the Department of Forensic and Neurodevelopmental
Sciences, Institute of Psychiatry. The Consortium members are in,
alphabetical order, A.J. Bailey, S. Baron-Cohen, P.F. Bolton, ET.
Bullmore, S. Carrington, B. Chakrabarti, E.M. Daly, S.C. Deoni, C.
Ecker, F. Happe, J. Henty, P. Jezzard, P. Johnston, D.K. Jones, M.
Lombardo, A. madden, D. Mullins, C.M. Murphy, D.G. Murphy, G. Pasco, S.
Sadek, D. Spain, R. Steward, J. Suckling, S. Wheelwright, and S.C.
Williams.
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NR 51
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
EI 1535-7228
J9 AM J PSYCHIAT
JI Am. J. Psychiat.
PD OCT
PY 2014
VL 171
IS 10
BP 1107
EP 1116
DI 10.1176/appi.ajp.2014.12030352
PG 10
WC Psychiatry
SC Psychiatry
GA AQ3SM
UT WOS:000342713800016
PM 24873905
ER
PT J
AU Barbosa-Leiker, C
Strand, PS
Mamey, MR
Downs, A
AF Barbosa-Leiker, Celestina
Strand, Paul S.
Mamey, Mary Rose
Downs, Andrew
TI Psychometric Properties of the Emotion Understanding Assessment With
Spanish- and English-Speaking Preschoolers Attending Head Start
SO ASSESSMENT
LA English
DT Article
DE Emotion understanding; measurement invariance; psychometric properties
ID TESTING MEASUREMENT INVARIANCE; OF-FIT INDEXES; SOCIAL-BEHAVIOR;
ACADEMIC COMPETENCE; CHILDREN; KNOWLEDGE; AUTISM; EXPRESSIONS;
PREDICTOR; SHYNESS
AB The Emotion Understanding Assessment (EUA) is based on a theoretical model of recognizing emotion expressions and reasoning about situation-based, desire-based, and belief-based emotions. While research has noted that emotion understanding predicts current and future social and academic functioning, little is known about the psychometric properties of the EUA. This research sought to test the EUA factor structure and measurement invariance across gender, across language (English and Spanish speakers), and over time (24 weeks) in 281 preschoolers attending Head Start. Results indicated that a two-factor model of emotion expression recognition and emotional perspective taking of the EUA fit the data for the total sample, for each group (gender and language), and at each time point. Furthermore, configural and scalar invariance of the EUA was demonstrated across gender, language, and time. These results offer support that the EUA is assessing emotion expression recognition and emotional perspective taking constructs equivalently in boy, girls, Spanish and English speakers, and over time. Examination of latent means across groups and time indicate no differences in emotion understanding based on gender or language or over the 24-week time frame in this sample of preschoolers attending Head Start.
C1 [Barbosa-Leiker, Celestina] Washington State Univ, Coll Nursing, Spokane, WA 99210 USA.
[Barbosa-Leiker, Celestina; Mamey, Mary Rose] Washington State Univ, Dept Psychol, Pullman, WA 99164 USA.
[Strand, Paul S.] Washington State Univ, Dept Psychol, Tri Cities, WA USA.
[Downs, Andrew] Univ Portland, Dept Psychol Sci, Portland, OR 97203 USA.
RP Barbosa-Leiker, C (reprint author), Washington State Univ, Coll Nursing, POB 1495, Spokane, WA 99210 USA.
EM celestina@wsu.edu
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NR 33
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1073-1911
EI 1552-3489
J9 ASSESSMENT
JI Assessment
PD OCT
PY 2014
VL 21
IS 5
BP 628
EP 636
DI 10.1177/1073191114524017
PG 9
WC Psychology, Clinical
SC Psychology
GA AQ4GL
UT WOS:000342751400009
PM 24590076
ER
PT J
AU Singh, I
Elsabbagh, M
AF Singh, Ilina
Elsabbagh, Mayada
TI Autism research beyond the bench
SO AUTISM
LA English
DT Editorial Material
NR 0
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 OCT
PY 2014
VL 18
IS 7
SI SI
BP 754
EP 755
DI 10.1177/1362361314548816
PG 2
WC Psychology, Developmental
SC Psychology
GA AQ2SH
UT WOS:000342638200001
PM 25364812
ER
PT J
AU Pellicano, E
Dinsmore, A
Charman, T
AF Pellicano, Elizabeth
Dinsmore, Adam
Charman, Tony
TI What should autism research focus upon? Community views and priorities
from the United Kingdom
SO AUTISM
LA English
DT Article
DE autism community; autism research; decision-making; priority setting
ID SPECTRUM DISORDERS; CHILDREN; AGENDA; ADULTS; HEALTH; PREVALENCE; UK
AB The rise in the measured prevalence of autism has been accompanied by much new research and research investment internationally. This study sought to establish whether the pattern of current UK autism research funding maps on to the concerns of the autism community. Interviews and focus groups were conducted with autistic adults, family members, practitioners and researchers to identify their priorities for research. We also captured the views of a large number of stakeholders via an online survey. There was a clear disparity between the United Kingdom's pattern of funding for autism research and the priorities articulated by the majority of participants. There was general consensus that future priorities for autism research should lie in those areas that make a difference to people's day-to-day lives. There needs to be greater involvement of the autism community both in priority setting and in research more broadly to ensure that resources reach where they are most needed and can make the most impact.
C1 [Pellicano, Elizabeth; Dinsmore, Adam] Univ London, Inst Educ, London WC1E 7HU, England.
[Pellicano, Elizabeth] Univ Western Australia, Nedlands, WA 6009, Australia.
[Dinsmore, Adam] Wellcome Trust Res Labs, London, England.
[Charman, Tony] Kings Coll London, Inst Psychiat, London WC2R 2LS, England.
RP Pellicano, E (reprint author), Care of Pellicano L, Univ London, Inst Educ, Dept Psychol & Human Dev,CRAE, 25 Woburn Sq, London WC1H 0AA, England.
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NR 44
TC 4
Z9 4
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD OCT
PY 2014
VL 18
IS 7
SI SI
BP 756
EP 770
DI 10.1177/1362361314529627
PG 15
WC Psychology, Developmental
SC Psychology
GA AQ2SH
UT WOS:000342638200002
PM 24789871
ER
PT J
AU Elsabbagh, M
Yusuf, A
Prasanna, S
Shikako-Thomas, K
Ruff, CA
Fehlings, MG
AF Elsabbagh, Mayada
Yusuf, Afiqah
Prasanna, Shreya
Shikako-Thomas, Keiko
Ruff, Crystal A.
Fehlings, Michael G.
TI Community engagement and knowledge translation: Progress and challenge
in autism research
SO AUTISM
LA English
DT Article
DE community needs; engagement; knowledge translation; low- and
middle-income countries
ID SPECTRUM DISORDERS; SCIENCE; IMPLEMENTATION; INTERVENTION; CHILDREN;
PARENTS; TIME
AB The last decade has seen significant growth in scientific understanding and public awareness of autism. There is still a long road ahead before this awareness can be matched with parallel improvements in evidence-based practice. The process of translating evidence into community care has been hampered by the seeming disconnect between the mainstream scientific research agenda and the immediate priorities of many communities. The need for community engagement in the process of translating knowledge into impact has been recognized. However, there remains little consensus or empirical data regarding the process of such engagement and how to measure its impact. We shed light on a number of engagement models and tools, previously advocated in health research, as they apply to autism research. Furthermore, we illustrate the utility of such tools in supporting identification of knowledge gaps and priorities, using two community-based case studies. The case studies illustrate that information generated from research is indeed relevant and critical for knowledge users in the community. Simple and systematic methods can support the translation and uptake of knowledge in diverse communities, therefore enhancing engagement with research and bridging research findings with immediate community needs.
C1 [Elsabbagh, Mayada; Yusuf, Afiqah; Prasanna, Shreya] McGill Univ, Montreal, PQ H3A 1A1, Canada.
[Shikako-Thomas, Keiko] McMaster Univ, Hamilton, ON L8S 4L8, Canada.
[Ruff, Crystal A.; Fehlings, Michael G.] Toronto Western Hosp, Toronto, ON, Canada.
[Ruff, Crystal A.; Fehlings, Michael G.] Univ Toronto, Toronto, ON M5S 1A1, Canada.
RP Elsabbagh, M (reprint author), McGill Univ, Dept Psychiat, Ludmer Res & Training Bldg,1033 Pine Ave West, Montreal, PQ H3A 1A1, Canada.
EM mayada.elsabbagh@mcgill.ca
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NR 48
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 OCT
PY 2014
VL 18
IS 7
SI SI
BP 771
EP 781
DI 10.1177/1362361314546561
PG 11
WC Psychology, Developmental
SC Psychology
GA AQ2SH
UT WOS:000342638200003
PM 25128332
ER
PT J
AU Jivraj, J
Sacrey, LA
Newton, A
Nicholas, D
Zwaigenbaum, L
AF Jivraj, Jamil
Sacrey, Lori-Ann
Newton, Amanda
Nicholas, David
Zwaigenbaum, Lonnie
TI Assessing the influence of researcher-partner involvement on the process
and outcomes of participatory research in autism spectrum disorder and
neurodevelopmental disorders: A scoping review
SO AUTISM
LA English
DT Article
DE autism; neurodevelopmental disorders; participatory research
partnerships
ID ACADEMIC-COMMUNITY PARTNERSHIP; INTELLECTUAL DISABILITY;
LEARNING-DIFFICULTIES; CONSUMER INVOLVEMENT; INCLUSIVE RESEARCH;
PUBLIC-HEALTH; PEOPLE; CHALLENGES; CARE; REFLECTIONS
AB Participatory research aims to increase the relevance and broaden the implementation of health research by involving those affected by the outcomes of health studies. Few studies within the field of neurodevelopmental disorders, particularly autism spectrum disorders, have involved autistic individuals as partners. This study sought to identify and characterize published participatory research partnerships between researchers and individuals with autism spectrum disorder or other neurodevelopmental disorders and examine the influence of participatory research partnerships on the research process and reported study outcomes. A search of databases and review of gray literature identified seven studies that described participatory research partnerships between academic researchers and individuals with autism spectrum disorder or other neurodevelopmental disorders. A comparative analysis of the studies revealed two key themes: (1) variations in the participatory research design and (2) limitations during the reporting of the depth of the partner's involvement. Both themes potentially limit the application and generalizability of the findings. The results of the review are discussed in relation to the use of evaluative frameworks for such participatory research studies to determine the potential benefits of participatory research partnerships within the neurodevelopmental and autism spectrum disorder populations.
C1 [Jivraj, Jamil; Sacrey, Lori-Ann; Newton, Amanda; Zwaigenbaum, Lonnie] Univ Alberta, Edmonton, AB T6G 2R3, Canada.
[Nicholas, David] Univ Calgary, Calgary, AB T2N 1N4, Canada.
RP Jivraj, J (reprint author), Univ Alberta, Dept Pediat, Glenrose Rehabil Hosp E209, Edmonton, AB T6G 2R3, Canada.
EM jivraj.jamil@gmail.com
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NR 51
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 OCT
PY 2014
VL 18
IS 7
SI SI
BP 782
EP 793
DI 10.1177/1362361314539858
PG 12
WC Psychology, Developmental
SC Psychology
GA AQ2SH
UT WOS:000342638200004
PM 24989447
ER
PT J
AU Milton, DEM
AF Milton, Damian E. M.
TI Autistic expertise: A critical reflection on the production of knowledge
in autism studies
SO AUTISM
LA English
DT Article
DE autism; expertise; knowledge production; somatic affordance; tacit
knowledge
AB The field of autism studies is a highly disputed territory within which competing contradictory discourses abound. In this field, it is the voices and claims of autistic people regarding their own expertise in knowledge production concerning autism that is most recent in the debate, and traditionally the least attended to. In this article, I utilise the theories of Harry Collins and colleagues in order to reflect upon and conceptualise the various claims to knowledge production and expertise within the field of autism studies, from the perspective of an author who has been diagnosed as being on the autism spectrum. The notion that autistic people lack sociality is problematised, with the suggestion that autistic people are not well described by notions such as the 'social brain', or as possessing 'zero degrees of cognitive empathy'. I then argue, however, that there is a qualitative difference in autistic sociality, and question to what extent such differences are of a biological or cultural nature, and to what extent interactional expertise can be gained by both parties in interactions between autistic and non-autistic people. In conclusion, I argue that autistic people have often become distrustful of researchers and their aims, and are frequently frozen out of the processes of knowledge production. Such a context results in a negative feedback spiral with further damage to the growth of interactional expertise between researchers and autistic people, and a breakdown in trust and communication leading to an increase in tension between stakeholder groups. The involvement of autistic scholars in research and improvements in participatory methods can thus be seen as a requirement, if social research in the field of autism is to claim ethical and epistemological integrity.
C1 Univ Birmingham, Birmingham B15 2TT, W Midlands, England.
RP Milton, DEM (reprint author), Univ Birmingham, Birmingham B15 2TT, W Midlands, England.
EM DEM979@bham.ac.uk
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NR 46
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 OCT
PY 2014
VL 18
IS 7
SI SI
BP 794
EP 802
DI 10.1177/1362361314525281
PG 9
WC Psychology, Developmental
SC Psychology
GA AQ2SH
UT WOS:000342638200005
PM 24637428
ER
PT J
AU Johnson, RA
Danis, M
Hafner-Eaton, C
AF Johnson, Rebecca A.
Danis, Marion
Hafner-Eaton, Chris
TI US state variation in autism insurance mandates: Balancing access and
fairness
SO AUTISM
LA English
DT Article
DE autism; distributive justice; ethics; health policy; private insurance
mandates
ID SPECTRUM DISORDER; PRIVATE INSURANCE; SERVICE USE; PREVALENCE; IMPACT;
IDENTIFICATION; EXPENDITURES; CHILDREN; TRENDS; COSTS
AB This article examines how nations split decision-making about health services between federal and sub-federal levels, creating variation between states or provinces. When is this variation ethically acceptable? We identify three sources of ethical acceptability-procedural fairness, value pluralism, and substantive fairness-and examine these sources with respect to a case study: the fact that only 30 out of 51 US states or territories passed mandates requiring private insurers to offer extensive coverage of autism behavioral therapies, creating variation for privately insured children living in different US states. Is this variation ethically acceptable? To address this question, we need to analyze whether mandates go to more or less needy states and whether the mandates reflect value pluralism between states regarding government's role in health care. Using time-series logistic regressions and data from National Survey of Children with Special Health Care Needs, Individual with Disabilities Education Act, legislature political composition, and American Board of Pediatrics workforce data, we find that the states in which mandates are passed are less needy than states in which mandates have not been passed, what we call a cumulative advantage outcome that increases between-state disparities rather than a compensatory outcome that decreases between-state disparities. Concluding, we discuss the implications of our analysis for broader discussions of variation in health services provision.
C1 [Johnson, Rebecca A.; Danis, Marion] NIH, Dept Bioeth, Bethesda, MD 20892 USA.
[Hafner-Eaton, Chris] NIH, Div Sci Policy & Sci Liaison, Bethesda, MD 20892 USA.
RP Johnson, RA (reprint author), NIH, Dept Bioeth, 10 Ctr Dr, Bethesda, MD 20892 USA.
EM BJohnson88@gmail.com
CR Allin Sara, 2008, Healthc Policy, V3, P83
[Anonymous], 2013, MED EXP PAN SURV
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NR 45
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 OCT
PY 2014
VL 18
IS 7
SI SI
BP 803
EP 814
DI 10.1177/1362361314529191
PG 12
WC Psychology, Developmental
SC Psychology
GA AQ2SH
UT WOS:000342638200006
PM 24789870
ER
PT J
AU Vohra, R
Madhavan, S
Sambamoorthi, U
St Peter, C
AF Vohra, Rini
Madhavan, Suresh
Sambamoorthi, Usha
St Peter, Claire
TI Access to services, quality of care, and family impact for children with
autism, other developmental disabilities, and other mental health
conditions
SO AUTISM
LA English
DT Article
DE Access to services; autism; autism spectrum disorder health care; burden
of autism; developmental disabilities; family impact; mental health
condition; quality of care
ID SPECTRUM DISORDERS; EXPENDITURES; MEDICAID; SUPPORT; BURDEN
AB This cross-sectional study examined perceived access to services, quality of care, and family impact reported by caregivers of children aged 3-17 years with autism spectrum disorders, as compared to caregivers of children with other developmental disabilities and other mental health conditions. The 2009-2010 National Survey of Children with Special Health Care Needs was utilized to examine the association between child's special needs condition and three outcomes (N = 18,136): access to services (difficulty using services, difficulty getting referrals, lack of source of care, and inadequate insurance coverage), quality of care (lack of care coordination, lack of shared decision making, and no routine screening), and family impact (financial, employment, and time-related burden). Multivariate logistic regressions were performed to compare caregivers of children with autism spectrum disorders to caregivers of children with developmental disabilities (cerebral palsy, Down syndrome, developmental delay, or intellectual disability), mental health conditions (attention deficit hyperactivity disorder, anxiety, behavioral/conduct problems, or depression), or both developmental disabilities and mental health conditions. Caregivers of children with autism spectrum disorders were significantly more likely to report difficulty using services, lack of source of care, inadequate insurance coverage, lack of shared decision making and care coordination, and adverse family impact as compared to caregivers of children with developmental disabilities, mental health conditions, or both.
C1 [Vohra, Rini; Madhavan, Suresh; Sambamoorthi, Usha; St Peter, Claire] W Virginia Univ, Morgantown, WV 26505 USA.
RP Vohra, R (reprint author), W Virginia Univ, Sch Pharm, Dept Pharmaceut Syst & Policy, POB 9510, Morgantown, WV 26505 USA.
EM rivohra@hsc.wvu.edu
CR Althouse LA, 2011, J PEDIATR-US, V159, P1036, DOI 10.1016/j.jpeds.2011.07.043
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
[Anonymous], 2012, BARR OPP SHAR TREATM
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Centers for Disease Control and Prevention (CDC), 2012, DAT STAT
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NR 35
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 OCT
PY 2014
VL 18
IS 7
SI SI
BP 815
EP 826
DI 10.1177/1362361313512902
PG 12
WC Psychology, Developmental
SC Psychology
GA AQ2SH
UT WOS:000342638200007
PM 24353274
ER
PT J
AU Pasco, G
Clark, B
Dragan, I
Kalambayi, F
Slonims, V
Tarpan, AK
Wittemeyer, K
AF Pasco, Greg
Clark, Bruce
Dragan, Ioana
Kalambayi, Fidelie
Slonims, Vicky
Tarpan, Adelaide Katerine
Wittemeyer, Kerstin
TI A training and development project to improve services and opportunities
for social inclusion for children and young people with autism in
Romania
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; awareness raising; computer-based training;
low- and middle-income countries; national campaign; Romania; training
and development
AB In 2010, the Romanian Angel Appeal Foundation launched a 3-year national training and development programme to develop and deliver a model of diagnostic and therapeutic services aimed at promoting social inclusion for children and young people with autism spectrum disorders. The project adopted a number of strategies aimed at developing knowledge and skills among professionals and increasing awareness in political and public spheres: (a) a three-stage training programme designed to increase knowledge of autism spectrum disorders and promote best practice among professionals working in services providing for children with autism spectrum disorders and their families, on a nationwide basis; (b) two online courses for general practitioners and psychiatrists, with content relating to the identification, diagnosis and treatment of autism spectrum disorders; (c) a total of 40 counselling and assistance centres for people with autism spectrum disorders were launched in partnership with local authorities; (d) a national strategy for social and professional integration of people with autism spectrum disorders developed through consultation with political, statutory and voluntary sector partners; and (e) a nationwide media campaign to raise awareness of the needs of children and young people with autism spectrum disorders that reached over eight million people. The project provides a transferable model to achieve important improvements in the quantity and quality of services on a national level within a brief time frame.
C1 [Pasco, Greg] Kings Coll London, Inst Psychiat, London SE5 8AF, England.
[Clark, Bruce] South London & Maudsley NHS Fdn Trust, London, England.
[Dragan, Ioana; Tarpan, Adelaide Katerine] Romanian Angel Appeal Fdn, Bucharest, Romania.
[Kalambayi, Fidelie] Univ Bucharest, Bucharest, Romania.
[Slonims, Vicky] Kings Coll London, London SE5 8AF, England.
[Wittemeyer, Kerstin] Univ Birmingham, Birmingham B15 2TT, W Midlands, England.
RP Pasco, G (reprint author), Kings Coll London, Inst Psychiat, De Crespigny Pk, London SE5 8AF, England.
EM greg.pasco@kcl.ac.uk
CR Elsabbagh M, 2012, AUTISM RES, V5, P160, DOI 10.1002/aur.239
Frost L., 2002, PICTURE EXCHANGE COM, V2nd
Kalambayi F, 2011, INTEGRAREA ED COPIIL
Kalambayi F, 2013, EVALUAREA REZU UNPUB
Khan NZ, 2012, AUTISM RES, V5, P156, DOI 10.1002/aur.1239
NR 5
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 OCT
PY 2014
VL 18
IS 7
SI SI
BP 827
EP 831
DI 10.1177/1362361314524642
PG 5
WC Psychology, Developmental
SC Psychology
GA AQ2SH
UT WOS:000342638200008
PM 24590469
ER
PT J
AU Ho, HSW
Yi, HS
Griffiths, S
Chan, DFY
Murray, S
AF Ho, Hilda S. W.
Yi, Huso
Griffiths, Sian
Chan, Dorothy F. Y.
Murray, Stuart
TI 'Do It Yourself' in the parent-professional partnership for the
assessment and diagnosis of children with autism spectrum conditions in
Hong Kong: A qualitative study
SO AUTISM
LA English
DT Article
DE autism spectrum conditions; clinical pathway; Hong Kong;
parent-professional partnership; qualitative study
ID DISORDER; SERVICES; ELECTROACUPUNCTURE; SATISFACTION; DOCTORS; SAMPLE;
MODEL
AB Timely and appropriate care for children with autism spectrum conditions is affected by the interaction between healthcare professionals and parents. Despite the importance of the parent-professional partnership, there is a dearth of cultural-specific data on parent-professional partnership in the Chinese context. We conducted 10 in-depth life-history interviews with parents of children with autism spectrum conditions in Hong Kong who were diagnosed during preschool years. Using an interpretative phenomenological analytic method, five themes were constructed to represent the context of parent-professional partnership in Hong Kong along the pathway of seeking a diagnosis: (a) access to the assessment and diagnosis of autism spectrum conditions, (b) multiple procedures of assessment, (c) consultation prior to diagnosis and assessment, (d) communication of diagnosis and assessment result and (e) post-assessment isolation. Parental narratives highlight the important domains of parent-professional partnership and reflect the complexity of diagnosis and the lack of a cohesive system. For many parents, the assessment procedure was marred by a series of obstacles, which were further exacerbated by a poorly developed parent-professional partnership. Suggestions for parent-professional partnership development include establishing an evidence-based best practice guideline for Hong Kong, creating pre-assessment information workshops for parents to attend and equipping professionals with knowledge about autism spectrum conditions and enhanced communication skills.
C1 [Ho, Hilda S. W.; Yi, Huso; Griffiths, Sian; Chan, Dorothy F. Y.] Chinese Univ Hong Kong, Shatin, Hong Kong, Peoples R China.
[Murray, Stuart] Univ Leeds, Leeds LS2 9JT, W Yorkshire, England.
RP Yi, HS (reprint author), Chinese Univ Hong Kong, Hlth Eth & Med Humanities Unit, Ctr Global Hlth, Jockey Club Sch Publ Hlth & Primary Care, Shatin, Hong Kong, Peoples R China.
EM husoyi@cuhk.edu.hk
CR Abbott M, 2013, CLIN CHILD PSYCHOL P, V18, P370, DOI 10.1177/1359104512455813
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Brogan CA, 2003, AUTISM, V7, P31, DOI 10.1177/1362361303007001004
Centers for Disease Control and Prevention, 2012, AUTISM SPECTRUM DISO
Chan AS, 2011, EVID-BASED COMPL ALT, V2011
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Labour and Welfare Bureau, 2012, CHILD ASS DIAGN DEV
Lasalle B, 2007, FINDING BEN MOTHERS
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Montes Guillermo, 2009, Pediatrics, V124 Suppl 4, pS407, DOI 10.1542/peds.2009-1255L
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Murray S, 2012, AUTISM
National Initiative for Autism: Screening and Assessment (NIASA), 2003, NAT AUT PLAN CHILDR
Nissenbaum M. S., 2002, FOCUS AUTISM OTHER D, V17, P30, DOI [10.1177/108835760201700103, DOI 10.1177/108835760201700103]
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Shea V, 1993, PRESCHOOL ISSUES AUT, P185
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NR 45
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 OCT
PY 2014
VL 18
IS 7
SI SI
BP 832
EP 844
DI 10.1177/1362361313508230
PG 13
WC Psychology, Developmental
SC Psychology
GA AQ2SH
UT WOS:000342638200009
PM 24129911
ER
PT J
AU Andersen, SL
Laurberg, P
Wu, CS
Olsen, J
AF Andersen, S. L.
Laurberg, P.
Wu, C. S.
Olsen, J.
TI Attention deficit hyperactivity disorder and autism spectrum disorder in
children born to mothers with thyroid dysfunction: a Danish nationwide
cohort study
SO BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
LA English
DT Article
DE Attention deficit hyperactivity disorder; autism spectrum disorder;
hyperthyroidism; hypothyroidism; pregnancy
ID BRAIN-DEVELOPMENT; EARLY-PREGNANCY; NEURODEVELOPMENTAL DISORDERS;
AUTOIMMUNE-DISEASES; GLUCOSE-METABOLISM; FOLLOW-UP; HYPOTHYROIDISM;
HYPERTHYROIDISM; EPIDEMIOLOGY; HORMONE
AB ObjectiveTo examine the association between maternal hyper- and hypothyroidism and the risk of attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in the child.
DesignA population-based cohort study.
SettingSingletons liveborn in Denmark between 1991 and 2004.
PopulationA total of 857014 singletons alive and living in Denmark at the age of 3years.
MethodsInformation on the diagnosis and/or treatment of maternal thyroid disease and the neurodevelopmental disorders ADHD and ASD in the child was obtained from Danish nationwide registers. The Cox proportional hazards model was used to estimate the hazard ratio (HR) with 95% confidence interval (95% CI) for risk of ADHD and ASD in children born to mothers with thyroid dysfunction, adjusting for potential confounding factors.
Main outcome measuresADHD and ASD in the child.
ResultsAltogether, 30295 singletons (3.5%) were born to mothers with thyroid dysfunction. Maternal hyperthyroidism diagnosed and treated for the first time after the birth of the child increased the risk of ADHD in the child (adjusted HR 1.23; 95% CI 1.05-1.44), whereas hypothyroidism increased the risk of ASD (adjusted HR 1.34; 95% CI 1.14-1.59). No significant association was seen for maternal diagnosis and treatment prior to the birth of the child.
ConclusionsChildren born to mothers diagnosed and treated for the first time for thyroid dysfunction after their birth may have been exposed to abnormal levels of maternal thyroid hormone already present during the pregnancy, and this untreated condition could increase the risk of specific neurodevelopmental disorders in the child.
C1 [Andersen, S. L.; Laurberg, P.] Aalborg Univ, Dept Clin Med, Aalborg, Denmark.
[Andersen, S. L.; Laurberg, P.] Aalborg Univ, Dept Endocrinol, Aalborg, Denmark.
[Andersen, S. L.; Laurberg, P.] Aalborg Univ Hosp, DK-9000 Aalborg, Denmark.
[Wu, C. S.; Olsen, J.] Aarhus Univ, Dept Publ Hlth, Epidemiol Sect, Aarhus, Denmark.
RP Andersen, SL (reprint author), Aalborg Univ Hosp, Dept Endocrinol, Sdr Skovvej 15, DK-9000 Aalborg, Denmark.
EM stine.a@rn.dk
RI Olsen, Jorn/F-8801-2015
OI Olsen, Jorn/0000-0001-7462-5140
FU Danish Medical Research Council [FSS: 12-32232]
FX C.S.W. is supported by individual postdoctoral grants from the Danish
Medical Research Council (FSS: 12-32232).
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NR 46
TC 4
Z9 4
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1470-0328
EI 1471-0528
J9 BJOG-INT J OBSTET GY
JI BJOG
PD OCT
PY 2014
VL 121
IS 11
BP 1365
EP 1374
DI 10.1111/1471-0528.12681
PG 10
WC Obstetrics & Gynecology
SC Obstetrics & Gynecology
GA AQ3CU
UT WOS:000342667300007
PM 24605987
ER
PT J
AU Schwetye, KE
Gutmann, DH
AF Schwetye, Katherine E.
Gutmann, David H.
TI Cognitive and behavioral problems in children with neurofibromatosis
type 1: challenges and future directions
SO EXPERT REVIEW OF NEUROTHERAPEUTICS
LA English
DT Review
DE attention; autism; cognitive and behavioral; learning and memory;
monogenic; mouse models; neurofibromatosis type 1; NF1; preclinical;
single gene
ID AUTISM SPECTRUM DISORDER; DEFICIT-HYPERACTIVITY DISORDER;
GENOTYPE-PHENOTYPE CORRELATION; DENDRITIC SPINE FORMATION; NF1
MESSENGER-RNA; GENE-PRODUCT; MOUSE MODEL; ATTENTION DEFICITS;
LEARNING-DEFICITS; ADENYLYL-CYCLASE
AB Cognitive and behavioral disorders affect nearly 80% of all children with the neurofibromatosis type 1 inherited cancer syndrome, and are among the most significant clinical manifestations for patients and their families. One of the barriers to successful therapeutic intervention is the wide spectrum of clinical phenotypic expression, ranging from visuospatial learning problems to social perceptual deficits (autism). Leveraging numerous small-animal models of neurofibromatosis type 1, several promising targets have been identified to treat the learning, attention, and autism spectrum phenotypes in this at-risk population. In this review, we provide an up-to-date summary of our current understanding of these disorders in NF1, and propose future research directions aimed at designing more effective therapeutic approaches and clinical trials.
C1 [Schwetye, Katherine E.] Washington Univ, Sch Med, Dept Pathol, Div Neuropathol, St Louis, MO 63110 USA.
[Gutmann, David H.] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA.
RP Gutmann, DH (reprint author), Washington Univ, Sch Med, Dept Neurol, Box 8111,660 S Euclid Ave, St Louis, MO 63110 USA.
EM gutmannd@neuro.wustl.edu
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NR 130
TC 0
Z9 0
PU EXPERT REVIEWS
PI LONDON
PA UNITEC HOUSE, 3RD FL, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON N3 1QB,
ENGLAND
SN 1473-7175
EI 1744-8360
J9 EXPERT REV NEUROTHER
JI Expert Rev. Neurother.
PD OCT
PY 2014
VL 14
IS 10
BP 1139
EP 1152
DI 10.1586/14737175.2014.953931
PG 14
WC Clinical Neurology; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA AQ3EN
UT WOS:000342672500004
PM 25161109
ER
PT J
AU Kissin, DM
Zhang, Y
Boulet, SL
Fountain, C
Bearman, P
Schieve, L
Yeargin-Allsopp, M
Jamieson, DJ
AF Kissin, D. M.
Zhang, Y.
Boulet, S. L.
Fountain, C.
Bearman, P.
Schieve, L.
Yeargin-Allsopp, M.
Jamieson, D. J.
TI ASSOCIATION OF ASSISTED REPRODUCTIVE TECHNOLOGY (ART) TREATMENT AND
PARENTAL INFERTILITY DIAGNOSIS WITH AUTISM IN ART-CONCEIVED CHILDREN.
SO FERTILITY AND STERILITY
LA English
DT Meeting Abstract
CT 70th Annual Meeting of the American-Society-for-Reproductive-Medicine
CY OCT 18-22, 2014
CL Honolulu, HI
SP Amer Soc Reprod Med
C1 [Kissin, D. M.; Zhang, Y.; Boulet, S. L.; Jamieson, D. J.] Ctr Dis Control, Natl Ctr Chron Dis Prevent & Hlth Promot, Ctr Dis Control & Prevent, Atlanta, GA 30333 USA.
[Fountain, C.] Fordham Univ, Dept Sociol, New York, NY 10023 USA.
[Bearman, P.] Columbia Univ, Dept Sociol, New York, NY 10027 USA.
[Schieve, L.; Yeargin-Allsopp, M.] Ctr Dis Control & Prevent, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA 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 0015-0282
EI 1556-5653
J9 FERTIL STERIL
JI Fertil. Steril.
PD OCT
PY 2014
VL 102
IS 3
SU S
MA O-46
BP E17
EP E17
PG 1
WC Obstetrics & Gynecology; Reproductive Biology
SC Obstetrics & Gynecology; Reproductive Biology
GA AQ0VG
UT WOS:000342500200047
ER
PT J
AU Libero, LE
Stevens, CE
Kana, RK
AF Libero, Lauren E.
Stevens, Carl E., Jr.
Kana, Rajesh K.
TI Attribution of Emotions to Body Postures: An Independent Component
Analysis Study of Functional Connectivity in Autism
SO HUMAN BRAIN MAPPING
LA English
DT Article
DE autism; fMRI; independent component analysis; functional connectivity;
emotion; body postures
ID MIRROR NEURON SYSTEM; INFERIOR FRONTAL-CORTEX; SPECTRUM DISORDERS;
CORTICAL ACTIVATION; FACIAL EXPRESSIONS; ASPERGER-SYNDROME; IMITATION
IMPAIRMENTS; MAGNETIC STIMULATION; SOCIAL ATTENTION; BRAIN MECHANISMS
AB The ability to interpret others' body language is a vital skill that helps us infer their thoughts and emotions. However, individuals with autism spectrum disorder (ASD) have been found to have difficulty in understanding the meaning of people's body language, perhaps leading to an overarching deficit in processing emotions. The current fMRI study investigates the functional connectivity underlying emotion and action judgment in the context of processing body language in high-functioning adolescents and young adults with autism, using an independent components analysis (ICA) of the fMRI time series. While there were no reliable group differences in brain activity, the ICA revealed significant involvement of occipital and parietal regions in processing body actions; and inferior frontal gyrus, superior medial prefrontal cortex, and occipital cortex in body expressions of emotions. In a between-group analysis, participants with autism, relative to typical controls, demonstrated significantly reduced temporal coherence in left ventral premotor cortex and right superior parietal lobule while processing emotions. Participants with ASD, on the other hand, showed increased temporal coherence in left fusiform gyrus while inferring emotions from body postures. Finally, a positive predictive relationship was found between empathizing ability and the brain areas underlying emotion processing in ASD participants. These results underscore the differential role of frontal and parietal brain regions in processing emotional body language in autism. Hum Brain Mapp 35:5204-5218, 2014. (c) 2014 Wiley Periodicals, Inc.
C1 [Libero, Lauren E.; Stevens, Carl E., Jr.; Kana, Rajesh K.] Univ Alabama Birmingham, Dept Psychol, Birmingham, AL 35294 USA.
RP Kana, RK (reprint author), Univ Alabama Birmingham, Dept Psychol, CIRC 235G,1719 6th Ave South, Birmingham, AL 35294 USA.
EM rkana@uab.edu
FU UAB Department of Psychology; McNulty-Civitan Scientist Award
FX Contract grant sponsors: UAB Department of Psychology and the
McNulty-Civitan Scientist Award (to R.K.).
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NR 124
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1065-9471
EI 1097-0193
J9 HUM BRAIN MAPP
JI Hum. Brain Mapp.
PD OCT
PY 2014
VL 35
IS 10
BP 5204
EP 5218
DI 10.1002/hbm.22544
PG 15
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AQ3CV
UT WOS:000342667400019
PM 24838987
ER
PT J
AU Harrison, AJ
Zimak, EH
Sheinkopf, SJ
Manji, KP
Morrow, EM
AF Harrison, Ashley J.
Zimak, Eric H.
Sheinkopf, Stephen J.
Manji, Karim P.
Morrow, Eric M.
TI Observation-centered Approach to ASD Assessment in Tanzania
SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE ASD; autism; assessment; CARS2; Africa; Tanzania; global mental health;
developmental delays
ID AUTISM SPECTRUM DISORDERS; MIDDLE-INCOME COUNTRIES; CHILDHOOD AUTISM;
UGANDAN CHILDREN; RATING-SCALE; DIAGNOSIS; CLASSIFICATION;
COMMUNICATION; ADOLESCENTS; VALIDATION
AB In many lower-income countries, there is a paucity of assessment services for autism spectrum disorders (ASD)., Guidelines will be provided for conducting cross-cultural assessments in the context of limited validated resources in Tanzania. By examining behavioral, social, and adaptive differences we were able to provide differential diagnostic evaluations aligning with best practice standards for 41 children in Tanzania age 2-21 years. We describe the utility of a flexible, behavioral observation instrument, the Childhood Autism Rating Scales, Second Edition (CARS2), to gather diagnostic information in a culturally sensitive manner. We observed that the ASD group was characterized by significantly higher scores on the CARS2, F = 21.09, p < .001, eta(2) = .37, than the general delay comparison group. Additional recommendations are provided for making cultural adaptations to current assessment instruments for use in a country without normed instruments, such as Tanzania.
C1 [Harrison, Ashley J.; Zimak, Eric H.; Sheinkopf, Stephen J.; Morrow, Eric M.] Brown Univ, Dept Psychiat & Human Behav, Alpert Med Sch, Providence, RI 02912 USA.
[Manji, Karim P.] Muhimbili Univ Hlth & Allied Sci, Dept Pediat, Dar Es Salaam, Tanzania.
RP Harrison, AJ (reprint author), Bradley Hosp, Dev Disorders Res Program, 1011 Vet Mem Pkwy, Providence, RI 02906 USA.
EM Ashley_johnson@brown.edu
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American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 52
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1934-9491
EI 1934-9556
J9 INTELLECT DEV DISAB
JI Intellect. Dev. Disabil.
PD OCT
PY 2014
VL 52
IS 5
BP 330
EP 347
DI 10.1352/1934-9556-52.5.330
PG 18
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AQ3VX
UT WOS:000342722700002
PM 25247726
ER
PT J
AU Liu, EX
Carter, EW
Boehm, TL
Annandale, NH
Taylor, CE
AF Liu, Eleanor X.
Carter, Erik W.
Boehm, Thomas L.
Annandale, Naomi H.
Taylor, Courtney E.
TI In Their Own Words: The Place of Faith in the Lives of Young People With
Autism and Intellectual Disability
SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Religion; spirituality; transition; autism; severe disabilities; faith
formation
ID DEVELOPMENTAL-DISABILITIES; UNITED-STATES; CHILDREN; ADULTS;
SPIRITUALITY; RELIGION; CHURCH; PARTICIPATION; PERSPECTIVES; INDIVIDUALS
AB Although the prominence of spirituality and religious connections among the people of the United States is well documented, little is known about the place of faith in the lives of youth with developmental disabilities. In this qualitative interview study, we examined the perspectives of 20 young people with intellectual disability or autism on their faith, spiritual expressions, and disability. Participants identified key spiritual expressions and themes reflecting the importance of faith in their lives. They also shared perceptions of their disability in the context of their faith, highlighting affirmation and acceptance of their disability. We offer recommendations to families, faith communities, and service systems for supporting the spiritual formation, expression, and connections of young people with disabilities.
C1 [Liu, Eleanor X.; Carter, Erik W.; Boehm, Thomas L.; Annandale, Naomi H.; Taylor, Courtney E.] Vanderbilt Univ, Nashville, TN 37203 USA.
RP Carter, EW (reprint author), Vanderbilt Univ, Dept Special Educ, Peabody Coll, PMB 228, Nashville, TN 37203 USA.
EM erik.carter@vanderbilt.edu
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NR 23
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1934-9491
EI 1934-9556
J9 INTELLECT DEV DISAB
JI Intellect. Dev. Disabil.
PD OCT
PY 2014
VL 52
IS 5
BP 388
EP 404
DI 10.1352/1934-9556-52.5.388
PG 17
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AQ3VX
UT WOS:000342722700006
PM 25247730
ER
PT J
AU Pridding, A
AF Pridding, Andrew
TI What to do when it really is "just" autism?
SO INTERNATIONAL JOURNAL OF MENTAL HEALTH NURSING
LA English
DT Meeting Abstract
C1 [Pridding, Andrew] Victorian Dual Disabil Serv, Melbourne, Vic, Australia.
CR Gould J., 2011, GOOD AUTISM PRACTICE, V12, P34
Jesner S., 2007, COCHRANE DATABASE SY
NR 2
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1445-8330
EI 1447-0349
J9 INT J MENT HEALTH NU
JI Int. J. Ment. Health Nurs.
PD OCT
PY 2014
VL 23
SU 1
SI SI
BP 32
EP 32
PG 1
WC Nursing; Psychiatry
SC Nursing; Psychiatry
GA AQ3BC
UT WOS:000342662700124
ER
PT J
AU Piper, BJ
Gray, HM
Raber, J
Birkett, MA
AF Piper, Brian J.
Gray, Hilary M.
Raber, Jacob
Birkett, Melissa A.
TI Reliability and validity of Brief Problem Monitor, an abbreviated form
of the Child Behavior Checklist
SO PSYCHIATRY AND CLINICAL NEUROSCIENCES
LA English
DT Article
DE adolescents; anxiety; children; reliability; validity
ID AGED 6-11; QUESTIONNAIRE; PROFILE; DISORDERS; SUPPORT
AB AimThe parent form of the 113-item Child Behavior Checklist (CBCL) is widely utilized by child psychiatrists and psychologists. This report examines the reliability and validity of a recently developed abbreviated version of the CBCL, the Brief Problem Monitor (BPM).
MethodsCaregivers (n=567) completed the CBCL online and the 19 BPM items were examined separately.
ResultsInternal consistency of the BPM was high (Cronbach's alpha=0.91) and satisfactory for the Internalizing (0.78), Externalizing (0.86), and Attention (0.87) scales. High correlations between the CBCL and BPM were identified for the total score (r=0.95) as well as the Internalizing (0.86), Externalizing (0.93), and Attention (0.97) scales. The BPM and scales were sensitive and identified significantly higher behavioral and emotional problems among children whose caregiver reported a psychiatric diagnosis of attention-deficit hyperactivity disorder, bipolar disorder, depression, anxiety, developmental disabilities, or autism spectrum disorders relative to a comparison group that had not been diagnosed with these disorders. BPM ratings also differed by the socioeconomic status and education of the caregiver. Mothers with higher annual incomes rated their children as having 38.8% fewer total problems (Cohen's d=0.62) as well as 42.8% lower Internalizing (d=0.53), 44.1% less Externalizing (d=0.62), and 30.9% decreased Attention (d=0.39). A similar pattern was evident for maternal education (d=0.30-0.65).
ConclusionOverall, these findings provide strong psychometric support for the BPM, although the differences based on the characteristics of the parent indicate that additional information from other sources (e.g., teachers) should be obtained to complement parental reports.
C1 [Piper, Brian J.] Husson Univ, Dept Basic Pharmaceut Sci, Bangor, ME USA.
[Piper, Brian J.; Gray, Hilary M.; Raber, Jacob] Oregon Hlth & Sci Univ, Dept Behav Neurosci, Portland, OR 97201 USA.
[Raber, Jacob] Oregon Hlth & Sci Univ, Dept Neurol, Portland, OR 97201 USA.
[Raber, Jacob] Oregon Hlth & Sci Univ, Dept Radiat Med, Portland, OR 97201 USA.
[Gray, Hilary M.] Portland State Univ, Dept Counselor Educ, Portland, OR 97207 USA.
[Birkett, Melissa A.] No Arizona Univ, Dept Psychol, Flagstaff, AZ 86011 USA.
RP Piper, BJ (reprint author), Husson Univ, One Coll Circle, Dept Basic Pharmaceut Sci, Bangor, ME 04401 USA.
EM psy391@gmail.com
FU Oregon Clinical Translational Research Institute [UL1 RR024140];
National Institute of Environmental Health Sciences [T32 ES007060-31A1];
National Institute of Drug Abuse [L30 DA027582-01]; Husson School of
Pharmacy
FX This work was supported by the Oregon Clinical Translational Research
Institute (UL1 RR024140), the National Institute of Environmental Health
Sciences (T32 ES007060-31A1), the National Institute of Drug Abuse (L30
DA027582-01), and the Husson School of Pharmacy. We would like to
express our special thanks to the research participants. All authors
report no relevant conflicts of interest.
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NR 32
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1323-1316
EI 1440-1819
J9 PSYCHIAT CLIN NEUROS
JI Psychiatry Clin. Neurosci.
PD OCT
PY 2014
VL 68
IS 10
BP 759
EP 767
DI 10.1111/pcn.12188
PG 9
WC Clinical Neurology; Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AQ4KB
UT WOS:000342763800004
PM 24735087
ER
PT J
AU Almeida, RA
Dickinson, JE
Maybery, MT
Badcock, JC
Badcock, DR
AF Almeida, Renita A.
Dickinson, J. Edwin
Maybery, Murray T.
Badcock, Johanna C.
Badcock, David R.
TI Enhanced global integration of closed contours in individuals with high
levels of autistic-like traits
SO VISION RESEARCH
LA English
DT Article
DE Autism-spectrum Quotient; Global contour integration; Visual search;
Embedded Figures Test; Radial frequency patterns; Visual processing
ID WEAK CENTRAL COHERENCE; VISUAL-SEARCH; SPECTRUM DISORDERS; FUNCTIONING
AUTISM; PERCEPTION; SUPERIOR; SHAPE; CHILDREN; TASK; CUES
AB Individuals with autistic traits (measured with Autism-spectrum Quotient, AQ) often excel in detecting shapes hidden within complex structures (e.g. on the Embedded Figures Test, EFT). This facility has been attributed to either weaker global integration of scene elements or enhanced local processing, but 'local' and 'global' have various meanings in the literature. The function of specific global visual mechanisms involved in integrating contours, similar to EFT targets was examined. High AQ scorers produced enhanced performance on the EFT and an alternative Radial Frequency Search Task. Contrary to 'generic' interpretations of weaker global pooling, this group displayed stronger pooling of contour components that was correlated with search ability. This study therefore shows a global contour integration advantage in high AQ observers. Crown Copyright (C) 2014 Published by Elsevier Ltd. All rights reserved.
C1 [Almeida, Renita A.; Dickinson, J. Edwin; Maybery, Murray T.; Badcock, Johanna C.; Badcock, David R.] Univ Western Australia, Sch Psychol, Crawley, WA 6009, Australia.
[Badcock, Johanna C.] Graylands Hosp, Ctr Clin Res Neuropsychiat, Mt Claremont, WA, Australia.
RP Badcock, DR (reprint author), Univ Western Australia, Sch Psychol M304, 35 Stirling Highway, Crawley, WA 6009, Australia.
EM david.badcock@uwa.edu.au
RI Badcock, Johanna/C-3682-2013
OI Badcock, Johanna/0000-0003-4629-2929
FU Australian Research Council [DP0666206, DP1097003, DP110104553]
FX This research was supported by Australian Research Council Grants
DP0666206, DP1097003 and DP110104553 to D.R.B.
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NR 50
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0042-6989
EI 1878-5646
J9 VISION RES
JI Vision Res.
PD OCT
PY 2014
VL 103
BP 109
EP 115
DI 10.1016/j.visres.2014.08.015
PG 7
WC Neurosciences; Ophthalmology
SC Neurosciences & Neurology; Ophthalmology
GA AQ2GH
UT WOS:000342603300012
PM 25175114
ER
PT J
AU Beamer, JA
Yun, J
AF Beamer, Jennifer A.
Yun, Joonkoo
TI Physical Educators' Beliefs and Self Reported Behaviors Toward Including
Students With Autism Spectrum Disorder
SO ADAPTED PHYSICAL ACTIVITY QUARTERLY
LA English
DT Article
DE physical education; disability; inclusion
ID PLANNED BEHAVIOR; TEACHING STUDENTS; TEACHERS BELIEFS; INCLUSION;
DISABILITIES; ATTITUDES; ATTRIBUTES; CHILDREN
AB With an increase in the presence of students with autism spectrum disorder (ASD) in the general physical education (GPE) classroom, understanding the current state of GPE teachers' beliefs and behaviors for including these students is warranted. The current study aimed to examine the beliefs and self-reported behaviors of GPE teachers' inclusion of students with ASD. In addition, the study examined potential factors affecting their inclusion behaviors. Using a national stratified random sample, participants were 142 current GPE teachers who submitted surveys anonymously online. Results from a regression analysis indicate that teachers' experience, graduate coursework in adapted physical education (APE), and perceptions of strength in undergraduate training in APE significantly predicted their self-reported behavior for including students with ASD. Although the participant response rate is considerably low, this study provides some support toward the importance of teacher education programs for inclusion training.
C1 [Beamer, Jennifer A.; Yun, Joonkoo] Oregon State Univ, Sch Biol & Populat Hlth Sci, Corvallis, OR 97331 USA.
RP Beamer, JA (reprint author), Oregon State Univ, Sch Biol & Populat Hlth Sci, Corvallis, OR 97331 USA.
EM Jennifer.beamer@oregonstate.edu
FU U.S. Department of Education [H325D060051]
FX The contents of this manuscript were in part developed under a grant
from the U.S. Department of Education, #H325D060051. However, the
contents do not necessarily represent the policy of the U.S. Department
of Education, and you should not assume endorsement by the federal
government.
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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
EI 1543-2777
J9 ADAPT PHYS ACT Q
JI Adapt. Phys. Act. Q.
PD OCT
PY 2014
VL 31
IS 4
BP 362
EP 376
DI 10.1123/apaq.2014-0134
PG 15
WC Rehabilitation; Sport Sciences
SC Rehabilitation; Sport Sciences
GA AQ2FR
UT WOS:000342601700005
PM 25211482
ER
PT J
AU Aypar, U
Brodersen, PR
Lundquist, PA
Dawson, DB
Thorland, EC
Hoppman, N
AF Aypar, Umut
Brodersen, Pamela R.
Lundquist, Patrick A.
Dawson, D. Brian
Thorland, Erik C.
Hoppman, Nicole
TI Does Parent of Origin Matter? Methylation Studies Should be Performed on
Patients with Multiple Copies of the Prader-Willi/Angelman Syndrome
Critical Region
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE 15q11.2-q13; PWASCR; autism; array CGH; MS-MLPA
ID WILLI-SYNDROME; ANGELMAN SYNDROME; INV DUP(15)
AB Deletion of 15q11.2-q13 results in either Prader-Willi syndrome (PWS) or Angelman syndrome (AS) depending on the parent of origin. Duplication of the PWS/AS critical region(PWASCR) has also been reported in association with developmental delay and autism, and it has been shown that they also show a parent-of-origin effect. It is generally accepted that maternal duplications are pathogenic. However, there is conflicting evidence as to the pathogenicity of paternal duplications. We have identified 35 patients with gain of the PWASCR using array comparative genomic hybridization. Methylation testing was performed to determine parent of origin of the extra copies. Of the 35 cases, 22 had a supernumerary marker chromosome 15 (SMC15), 12 had a tandem duplication, and 1 had a tandem triplication. Only one patient had a paternal duplication; this patient does not have features typical of patients with maternal duplication of the PWASCR. Three of the mothers had a tandem duplication (two were paternal and one was maternal origin). While one of the two mothers with paternal duplication was noted not to have autism, the other was noted to have learning disability and depression. Based on our data, we conclude that SMC15 are almost exclusively maternal in origin and result in an abnormal phenotype. Tandem duplications/triplications are generally of maternal origin when ascertained on the basis of abnormal phenotype; however, tandem duplications of paternal origin have also been identified. Therefore, we suggest that methylation testing be performed for cases of tandem duplications/triplications since the pathogenicity of paternal gains is uncertain. (C) 2014 Wiley Periodicals, Inc.
C1 [Aypar, Umut; Brodersen, Pamela R.; Thorland, Erik C.; Hoppman, Nicole] Mayo Clin, Dept Lab Med & Pathol, Cytogenet Lab, Rochester, MN 55905 USA.
[Lundquist, Patrick A.; Dawson, D. Brian] Mayo Clin, Dept Lab Med & Pathol, Mol Genet Lab, Rochester, MN 55905 USA.
RP Hoppman, N (reprint author), Mayo Clin, Dept Lab Med & Pathol, Cytogenet Lab, 971 Hilton,200 1st St SW, Rochester, MN 55905 USA.
EM hoppman.nicole@mayo.edu
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NR 11
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD OCT
PY 2014
VL 164A
IS 10
BP 2514
EP 2520
DI 10.1002/ajmg.a.36663
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AP7TM
UT WOS:000342279600017
PM 24975781
ER
PT J
AU Cuccaro, ML
Czape, K
Alessandri, M
Lee, J
Deppen, AR
Bendik, E
Dueker, N
Nations, L
Pericak-Vance, M
Hahn, S
AF Cuccaro, Michael L.
Czape, Kayla
Alessandri, Michael
Lee, Joycelyn
Deppen, Abigail Rupchock
Bendik, Elise
Dueker, Nicole
Nations, Laura
Pericak-Vance, Margaret
Hahn, Susan
TI Genetic Testing and Corresponding Services Among Individuals With Autism
Spectrum Disorder (ASD)
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE autism spectrum disorder; genetic testing; parental attitudes; survey
research
ID RISK; RECURRENCE
AB The purpose of this study was to assess use of genetic testing and corresponding genetic services for children with Autism Spectrum Disorder (ASD). Survey data from 397 parents of individuals with ASD was collected using the Center for Autism and Related Disabilities client registry. Participants reported that 41.2% of the individuals with ASD had undergone any type of genetic testing. However, only 21.3% of individuals with ASD had been referred to a genetics specialist. Diagnosis and level of functioning were significantly associated with both referral to a genetics specialist and having undergone any genetic testing. In addition, Hispanic ancestry was associated with increased referral to genetic testing. Concerns about the limited benefits of genetic testing and prohibitive costs were potential barriers to pursuing genetic testing. Overall, low numbers of individuals with ASD have a history of undergoing genetic testing or receiving genetic services. Possible reasons include low referral rates as well as concerns by parents about cost and relevance, and lack of availability. These findings confirm the historical trend for providing genetic testing and genetic services to those with the greatest impairments. (C) 2014 Wiley Periodicals, Inc.
C1 [Cuccaro, Michael L.; Czape, Kayla; Lee, Joycelyn; Deppen, Abigail Rupchock; Bendik, Elise; Dueker, Nicole; Pericak-Vance, Margaret; Hahn, Susan] Univ Miami, Miller Sch Med, Hussman Inst Human Genom, Dr John T McDonald Dept Human Genet, Miami, FL 33136 USA.
[Alessandri, Michael] Univ Miami, Dept Psychol, Coral Gables, FL 33124 USA.
[Nations, Laura] Univ N Carolina, Sch Med, Carolina Inst Intellectual Disabil, Chapel Hill, NC USA.
RP Cuccaro, ML (reprint author), Dept Human Genet, 1501 NW 10th Ave,M-860, Miami, FL 33136 USA.
EM mcuccaro@med.miami.edu
FU National Institute of Mental Health [MH080647]
FX Grant sponsor: National Institute of Mental Health; Grant number:
MH080647.
CR Agresti A., 2002, CATEGORICAL DATA ANA
Autism and Developmental Disabilities Monitoring Network Surveillance Year 2008 Principal Investigators Centers for Disease Control and Prevention, 2012, MMWR SURVEILL SUMM, V61, P1
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NR 25
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD OCT
PY 2014
VL 164A
IS 10
BP 2592
EP 2600
DI 10.1002/ajmg.a.36698
PG 9
WC Genetics & Heredity
SC Genetics & Heredity
GA AP7TM
UT WOS:000342279600027
PM 25131847
ER
PT J
AU Fleury, VP
Miramontez, SH
Hudson, RF
Schwartz, IS
AF Fleury, Veronica P.
Miramontez, Shane Herriott
Hudson, Roxanne F.
Schwartz, Ilene S.
TI Promoting active participation in book reading for preschoolers with
Autism Spectrum Disorder: A preliminary study
SO CHILD LANGUAGE TEACHING & THERAPY
LA English
DT Article
DE Autism spectrum disorder; dialogic reading; emergent literacy;
intervention; preschool
ID ACCELERATING LANGUAGE-DEVELOPMENT; JOINT ATTENTION; YOUNG-CHILDREN;
DAY-CARE; INTERVENTION; SINGLE; PARENT; HOME; COMPREHENSION;
DISABILITIES
AB A common literacy practice in early childhood classrooms is reading aloud to children. Little is known, however, about the quality of engagement in shared reading activities for young children with Autism Spectrum Disorders (ASD). Dialogic reading is one method of shared reading in which adults encourage children to actively participate in the reading process by asking them a variety of questions while reading a book The current study used a multiple baseline design across participants to examine the effect of a dialogic reading intervention on book reading participation for three preschool boys with ASD. Compared to baseline book readings, dialogic book reading resulted in increased rates of child verbal participation and longer duration spent engaged with printed materials. Based on these preliminary findings we suggest that this reading strategy may be a promising practice for early childhood educators that warrants further exploration.
C1 [Schwartz, Ilene S.] Univ Washington, Haring Ctr, Seattle, WA 98195 USA.
[Fleury, Veronica P.] Univ N Carolina, Frank Porter Graham Child Dev Inst, IES Postdoctoral Training Program Special Educ Re, Chapel Hill, NC 27599 USA.
RP Fleury, VP (reprint author), Univ N Carolina, Frank Porter Graham Child Dev Inst, CB 8040, Chapel Hill, NC 27599 USA.
EM veronica.fleury@unc.edu
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NR 62
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0265-6590
EI 1477-0865
J9 CHILD LANG TEACH THE
JI Child Lang. Teach. Ther.
PD OCT
PY 2014
VL 30
IS 3
BP 273
EP 288
DI 10.1177/0265659013514069
PG 16
WC Education, Special; Linguistics; Language & Linguistics
SC Education & Educational Research; Linguistics
GA AP9IA
UT WOS:000342392300003
ER
PT J
AU Mouridsen, SE
Rich, B
Isager, T
AF Mouridsen, Svend Erik
Rich, Bente
Isager, Torben
TI The Sex Ratio of Full and Half Siblings of People Diagnosed with an
Autism Spectrum Disorder: A Danish Nationwide Register Study
SO CHILD PSYCHIATRY & HUMAN DEVELOPMENT
LA English
DT Article
DE Autism spectrum disorder; Sex ratio; Extreme male brain theory of
autism; Testosterone
ID FETAL TESTOSTERONE; DIGIT RATIO; CHILDREN; BRAIN; PSYCHOPATHOLOGY;
HORMONE; COHORT; 2ND
AB In the extreme male brain theory of autism sex steroid hormones are hypothesized to influence brain development and to mediate sex differences in developmental psychopathology. Within this scope we examined the sex ratio (proportion of males) in siblings of individuals diagnosed with autism spectrum disorders (ASD). We did a nationwide, register based cohort study of the sex ratio in 17,380 siblings of the 10,297 patients diagnosed with ASD at age 17 years and younger and registered in the nationwide Danish Psychiatric Central Register between 1994 and 2012. Among the 17,380 siblings 8,828 were males and 8,552 females. This yields a sex ratio of 0.508, which is not different from the Danish live birth sex ratio of 0.513 during the relevant years (P = 0.18). Overall, our findings provide no support for the hypothesis that there are relatively more males among the siblings of people with ASD. Accordingly, our results do not give support to the extreme male brain theory of autism.
C1 [Mouridsen, Svend Erik] Bispebjerg Hosp, Child & Adolescent Psychiat Ctr, DK-2400 Copenhagen, Denmark.
[Isager, Torben] Glostrup Univ Hosp, Child & Adolescent Psychiat Ctr, Glostrup, Denmark.
RP Mouridsen, SE (reprint author), Bispebjerg Hosp, Child & Adolescent Psychiat Ctr, DK-2400 Copenhagen, Denmark.
EM Svend.Erik.Mouridsen@regionh.dk
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Auyeung B, 2012, MOL AUTISM, V3, DOI 10.1186/2040-2392-3-17
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NR 37
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0009-398X
EI 1573-3327
J9 CHILD PSYCHIAT HUM D
JI Child Psychiat. Hum. Dev.
PD OCT
PY 2014
VL 45
IS 5
BP 493
EP 499
DI 10.1007/s10578-013-0419-1
PG 7
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AP9OY
UT WOS:000342410300001
PM 24213328
ER
PT J
AU Spreiz, A
Haberlandt, E
Baumann, M
Sigl, SB
Fauth, C
Gautsch, K
Karall, D
Janetschek, C
Rostasy, K
Scholl-Burgi, S
Zotter, S
Utermann, G
Zschocke, J
Kotzot, D
AF Spreiz, A.
Haberlandt, E.
Baumann, M.
Sigl, S. Baumgartner
Fauth, C.
Gautsch, K.
Karall, D.
Janetschek, C.
Rostasy, K.
Scholl-Buergi, S.
Zotter, S.
Utermann, G.
Zschocke, J.
Kotzot, D.
TI Chromosomal microaberrations in patients with epilepsy, intellectual
disability, and congenital anomalies
SO CLINICAL GENETICS
LA English
DT Article
DE deletion; duplication; epilepsy; intellectual disability; SNP array
ID COPY-NUMBER VARIANTS; COMPARATIVE-GENOMIC-HYBRIDIZATION;
ENCEPHALOPATHIES; MECHANISMS; DISORDERS; CHILDREN; AUTISM
AB Epilepsy is a common finding in patients with chromosomal macro- and micro-rearrangements but only few aberrations show a constant pattern of seizures. DNA array-based studies have reported causative copy number variations (CNVs) in 5-30% of patients with epilepsy with or without co-morbidities. The interpretation of many of the detected CNVs remains challenging. In order to identify CNVs carrying epilepsy-related genes we investigated 43 children with various patterns of epileptic seizures, intellectual disability (ID), and minor dysmorphism, using the Illumina (R) Infinium Human1M-DuoV1 array. In three patients we found likely causative de novoCNVs, i.e. deletions in 1q41q42.12 (3.4 Mb) and 19p13.2 (834 kb), and a mosaic two-segment duplication in 17p13.2 (218 kb) and 17p13.1 (422 kb). In six additional patients there were aberrations (a deletion in one and duplications in five patients) with uncertain clinical consequences. In total, the finding of causative chromosomal micro-rearrangements in 3 out of 43 patients (7%) and potentially causative CNVs in 6 additional patients (14%) with epilepsy and ID but without major malformations confirms the power of DNA arrays for the detection of new disease-related genetic regions.
C1 [Spreiz, A.; Fauth, C.; Utermann, G.; Zschocke, J.; Kotzot, D.] Med Univ Innsbruck, Dept Med Genet Mol & Clin Pharmacol, Div Human Genet, A-6020 Innsbruck, Austria.
[Haberlandt, E.; Baumann, M.; Sigl, S. Baumgartner; Karall, D.; Janetschek, C.; Rostasy, K.; Scholl-Buergi, S.; Zotter, S.] Med Univ Innsbruck, Clin Dept Pediat 1, A-6020 Innsbruck, Austria.
[Gautsch, K.] Med Univ Innsbruck, Dept Radiol 2, A-6020 Innsbruck, Austria.
RP Kotzot, D (reprint author), Dept Med Genet Mol & Clin Pharmacol, Div Human Genet, Schoepfstr 41A, A-6020 Innsbruck, Austria.
EM DieterKotzot@gmx.de
FU Medizinischer Forderfonds Innsbruck [2007411]; Osterreichische
Nationalbank [13004]
FX The authors thank the patients and their families for their willingness
to participate in this study. This work was supported by grants of the
Medizinischer Forderfonds Innsbruck to EH (Nr. 2007411) and the
Osterreichische Nationalbank to D. Ko (Nr. 13004).
CR Bartnik M, 2012, AM J MED GENET B, V159B, P760, DOI 10.1002/ajmg.b.32081
Berg AT, 2010, EPILEPSIA, V51, P676, DOI 10.1111/j.1528-1167.2010.02522.x
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Girirajan S, 2012, NEW ENGL J MED, V367, P1321, DOI 10.1056/NEJMoa1200395
Guerrini R, 2006, LANCET, V367, P499, DOI 10.1016/S0140-6736(06)68182-8
Haberlandt E, 2012, AM J MED GENET A, V158A, P1190, DOI 10.1002/ajmg.a.35291
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Kevelam SHG, 2011, J CHILD NEUROL, V27, P178
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Schinzel A., 2001, CATALOGUE UNBALANCED
Shaffer LG, 2007, GENET MED, V9, P607, DOI 10.1097/GIM.0b013e3181484b49
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Szafranski P, 2010, HUM MUTAT, V31, P840, DOI 10.1002/humu.21284
vansBon BW, 2009, J MED GENET, V46, P511
NR 26
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0009-9163
EI 1399-0004
J9 CLIN GENET
JI Clin. Genet.
PD OCT
PY 2014
VL 86
IS 4
BP 361
EP 366
DI 10.1111/cge.12288
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA AP8PV
UT WOS:000342341900009
PM 24116836
ER
PT J
AU Jiang, YH
Wang, Y
Xiu, X
Choy, KW
Pursley, AN
Cheung, SW
AF Jiang, Yong-Hui
Wang, Yi
Xiu, Xu
Choy, Kwong Wai
Pursley, Amber Nolen
Cheung, Sau W.
TI Genetic diagnosis of autism spectrum disorders: The opportunity and
challenge in the genomics era
SO CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES
LA English
DT Review
DE Autism spectrum disorders; array comparative genomic hybridization; copy
number variation; single nucleotide variant; whole exome sequencing;
whole genome sequencing; prenatal diagnosis
ID COPY-NUMBER VARIATION; DE-NOVO MUTATIONS; ARRAY CGH; CHROMOSOMAL
REARRANGEMENTS; MOLECULAR CHARACTERIZATION; INTELLECTUAL DISABILITY;
MENDELIAN DISORDERS; DELETION SYNDROME; PROXIMAL 15Q; VARIANTS
AB A genetic etiology for autism spectrum disorders (ASDs) was first suggested from twin studies reported in the 1970s. The identification of gene mutations in syndromic ASDs provided evidence to support a genetic cause of ASDs. More recently, genome-wide copy number variant and sequence analyses have uncovered a list of rare and highly penetrant copy number variants (CNVs) or single nucleotide variants (SNVs) associated with ASDs, which has strengthened the claim of a genetic etiology for ASDs. Findings from research studies in the genetics of ASD now support an important role for molecular diagnostics in the clinical genetics evaluation of ASDs. Various molecular diagnostic assays including single gene tests, targeted multiple gene panels and copy number analysis should all be considered in the clinical genetics evaluation of ASDs. Whole exome sequencing could also be considered in selected clinical cases. However, the challenge that remains is to determine the causal role of genetic variants identified through molecular testing. Variable expressivity, pleiotropic effects and incomplete penetrance associated with CNVs and SNVs also present significant challenges for genetic counseling and prenatal diagnosis.
C1 [Jiang, Yong-Hui] Duke Univ, Sch Med, Dept Pediat & Neurobiol, Durham, NC USA.
[Jiang, Yong-Hui; Wang, Yi] Fudan Univ, Childrens Hosp, Div Neurol, Shanghai 200433, Peoples R China.
[Xiu, Xu] Fudan Univ, Childrens Hosp, Div Child Dev & Hlth, Shanghai 200433, Peoples R China.
[Choy, Kwong Wai] Chinese Univ Hong Kong, Univ Utrecht, Sch Biomed Sci, Dept Obstet & Gynecol,Genet Core, Hong Kong, Hong Kong, Peoples R China.
[Choy, Kwong Wai] Chinese Univ Hong Kong, Univ Utrecht, Sch Biomed Sci, Joint Ctr,Genet Core, Hong Kong, Hong Kong, Peoples R China.
[Pursley, Amber Nolen; Cheung, Sau W.] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
RP Cheung, SW (reprint author), Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,NAB 2015, Houston, TX 77030 USA.
EM scheung@bcm.edu
FU National Institute of Health [MH-1089441]; Autism Speaks; Ruth K. Broad
Foundation; Prader-Willi Syndrome Research Foundations; Nature Science
Foundation of China [NSFC 81071116]; Shanghai Science and Technology
Commission [12XD1401100]; China Ministry of Health Special Scientific
Research Funds [201302002]
FX SWC and ANP are faculty members of the Department of Molecular and Human
Genetics at Baylor College of Medicine, which derives revenue from the
CMA offered in the Medical Genetics Laboratory. YHJ is supported by the
National Institute of Health (Grant MH-1089441), Autism Speaks, and the
Ruth K. Broad Foundation and Prader-Willi Syndrome Research Foundations.
YW is supported by the Nature Science Foundation of China (NSFC
81071116), the Shanghai Science and Technology Commission (12XD1401100),
and the China Ministry of Health Special Scientific Research Funds
(201302002). The other authors have no conflicts to declare.
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NR 123
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1040-8363
EI 1549-781X
J9 CRIT REV CL LAB SCI
JI Crit. Rev. Clin. Lab. Sci.
PD OCT
PY 2014
VL 51
IS 5
BP 249
EP 262
DI 10.3109/10408363.2014.910747
PG 14
WC Medical Laboratory Technology
SC Medical Laboratory Technology
GA AQ1QH
UT WOS:000342555600001
PM 24878448
ER
PT J
AU Alwi, N
Harun, D
Henry, LJ
AF Alwi, Nazurah
Harun, Dzalani
Henry, Leonard Joseph
TI Psychological distress among parents having offspring with autism
spectrum disorder (ASD) - A clinical view point
SO DISABILITY AND HEALTH JOURNAL
LA English
DT Letter
C1 [Alwi, Nazurah; Henry, Leonard Joseph] Univ Kebangsaan Malaysia, Fac Hlth Sci, Sch Rehabil Sci, Physiotherapy Program, Kuala Lumpur 50300, Malaysia.
[Harun, Dzalani] Univ Kebangsaan Malaysia, Fac Hlth Sci, Sch Rehabil Sci, Occupat Therapy Program, Kuala Lumpur 50300, Malaysia.
RP Henry, LJ (reprint author), Univ Kebangsaan Malaysia, Fac Hlth Sci, Sch Rehabil Sci, Physiotherapy Program, Kuala Lumpur 50300, Malaysia.
EM leonardjoseph85@hotmail.com
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TC 1
Z9 1
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1936-6574
EI 1876-7583
J9 DISABIL HEALTH J
JI Disabil. Health J.
PD OCT
PY 2014
VL 7
IS 4
BP 369
EP 370
DI 10.1016/j.dhjo.2014.04.008
PG 2
WC Health Care Sciences & Services; Health Policy & Services; Public,
Environmental & Occupational Health; Rehabilitation
SC Health Care Sciences & Services; Public, Environmental & Occupational
Health; Rehabilitation
GA AP8LW
UT WOS:000342331500002
PM 25224978
ER
PT J
AU Kotsis, K
Soulis, S
Carvalho, AF
Hyphantis, T
AF Kotsis, Konstantinos
Soulis, Spyros
Carvalho, Andre F.
Hyphantis, Thomas
TI Psychological distress among parents having offspring with autism
spectrum disorder: Authors' reply
SO DISABILITY AND HEALTH JOURNAL
LA English
DT Letter
ID QUALITY-OF-LIFE; ILLNESS PERCEPTIONS; DEPRESSIVE SYMPTOMS; ARTHRITIS;
STRESS
C1 [Kotsis, Konstantinos; Hyphantis, Thomas] Univ Ioannina, Sch Med, Dept Psychiat, GR-45110 Ioannina, Hepirus, Greece.
[Soulis, Spyros] Univ Ioannina, Dept Primary Educ Special & Intercultural Educ, GR-45110 Ioannina, Hepirus, Greece.
[Carvalho, Andre F.] Univ Fed Ceara, Fac Med, Dept Clin Med, Fortaleza, Ceara, Brazil.
RP Hyphantis, T (reprint author), Univ Ioannina, Sch Med, Dept Psychiat, Univ Ave, GR-45110 Ioannina, Hepirus, Greece.
EM thomashyphantis@outlook.com
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Z9 0
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PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1936-6574
EI 1876-7583
J9 DISABIL HEALTH J
JI Disabil. Health J.
PD OCT
PY 2014
VL 7
IS 4
BP 370
EP 372
DI 10.1016/j.dhjo.2014.05.008
PG 3
WC Health Care Sciences & Services; Health Policy & Services; Public,
Environmental & Occupational Health; Rehabilitation
SC Health Care Sciences & Services; Public, Environmental & Occupational
Health; Rehabilitation
GA AP8LW
UT WOS:000342331500003
PM 25134452
ER
PT J
AU Manera, V
Samson, AC
Pehrs, C
Lee, IA
Gross, JJ
AF Manera, Valeria
Samson, Andrea C.
Pehrs, Corinna
Lee, Ihno A.
Gross, James J.
TI The Eyes Have It: The Role of Attention in Cognitive Reappraisal of
Social Stimuli
SO EMOTION
LA English
DT Article
DE Emotion regulation; cognitive reappraisal; attention; eye-tracking
ID AUTISM SPECTRUM DISORDER; HIGH-FUNCTIONING AUTISM; EMOTION REGULATION;
ELECTROCORTICAL RESPONSE; UNPLEASANT PICTURES; EXPRESSIVE SUPPRESSION;
NEGATIVE AFFECT; CONSEQUENCES; MODULATION; FACES
AB Cognitive reappraisal (CR) is a commonly used emotion-regulation strategy that has been shown to influence affective, cognitive, and social outcomes. Although progress has been made in elucidating the mechanisms underlying CR, the role of attention remains unclear. In the present study, we investigated the role of attention in CR by tracking participants' gazes during the presentation of videos depicting people in negative moods. Participants were asked to attend naturally or to use reappraisal to increase or decrease their emotions while viewing the videos. After each video, they rated their negative emotion experience. Results showed that participants spent more time looking at the emotional regions in the target's face (eyes and mouth) when asked to up-regulate their emotions, compared with when they simply attended to the videos. The reverse pattern was found for down-regulation of emotions. In addition, the effects of cognitive reappraisal on negative emotion experience were mediated by the time spent looking at the emotional regions, with a stronger effect for the down-regulation instruction. Finally, direct effects of regulation instruction on negative emotion were observed even when controlling for time spent viewing emotional regions, which suggests that attention and CR are distinct components that uniquely influence negative emotions. These results complement and extend previous findings on the role of attention in CR, and highlight the importance of taking attentional mechanisms into account when designing CR training.
C1 [Manera, Valeria] Univ Nice Sophia Antipolis, Fac Med, F-06100 Nice, France.
[Samson, Andrea C.; Lee, Ihno A.; Gross, James J.] Stanford Univ, Dept Psychol, Stanford, CA 94305 USA.
[Pehrs, Corinna] Free Univ Berlin, Cluster Excellence Languages Emot, Berlin, Germany.
[Pehrs, Corinna] Free Univ Berlin, Dept Educ & Psychol, Berlin, Germany.
RP Manera, V (reprint author), Univ Nice Sophia Antipolis, Fac Med, Inst Claude Pompidou, 10 Rue Moliere, F-06100 Nice, France.
EM valeria.manera@unice.fr
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NR 44
TC 0
Z9 0
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 1528-3542
EI 1931-1516
J9 EMOTION
JI Emotion
PD OCT
PY 2014
VL 14
IS 5
BP 833
EP 839
DI 10.1037/a0037350
PG 7
WC Psychology, Experimental
SC Psychology
GA AQ0WH
UT WOS:000342502900001
PM 25046244
ER
PT J
AU Ceroni, F
Simpson, NH
Francks, C
Baird, G
Conti-Ramsden, G
Clark, A
Bolton, PF
Hennessy, ER
Donnelly, P
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Martin, H
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AF Ceroni, Fabiola
Simpson, Nuala H.
Francks, Clyde
Baird, Gillian
Conti-Ramsden, Gina
Clark, Ann
Bolton, Patrick F.
Hennessy, Elizabeth R.
Donnelly, Peter
Bentley, David R.
Martin, Hilary
Parr, Jeremy
Pagnamenta, Alistair T.
Maestrini, Elena
Bacchelli, Elena
Fisher, Simon E.
Newbury, Dianne F.
CA IMGSAC
SLI Consortium
WGS500 Consortium
TI Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific
language impairment
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE ZNF277; SLI; language
ID AUTISM SPECTRUM DISORDERS; HIDDEN-MARKOV MODEL; SNP GENOTYPING DATA;
CELL SELF-RENEWAL; EARLY ADULT LIFE; COPY-NUMBER; FOLLOW-UP; GENOMIC
SCREEN; CHROMOSOME 7Q; MUTATIONS
AB Specific language impairment (SLI), an unexpected failure to develop appropriate language skills despite adequate non-verbal intelligence, is a heterogeneous multifactorial disorder with a complex genetic basis. We identified a homozygous microdeletion of 21,379 bp in the ZNF277 gene (NM_021994.2), encompassing exon 5, in an individual with severe receptive and expressive language impairment. The microdeletion was not found in the proband's affected sister or her brother who had mild language impairment. However, it was inherited from both parents, each of whom carries a heterozygous microdeletion and has a history of language problems. The microdeletion falls within the AUTS1 locus, a region linked to autistic spectrum disorders (ASDs). Moreover, ZNF277 is adjacent to the DOCK4 and IMMP2L genes, which have been implicated in ASD. We screened for the presence of ZNF277 microdeletions in cohorts of children with SLI or ASD and panels of control subjects. ZNF277 microdeletions were at an increased allelic frequency in SLI probands (1.1%) compared with both ASD family members (0.3%) and independent controls (0.4%). We performed quantitative RT-PCR analyses of the expression of IMMP2L, DOCK4 and ZNF277 in individuals carrying either an IMMP2L DOCK4 microdeletion or a ZNF277 microdeletion. Although ZNF277 microdeletions reduce the expression of ZNF277, they do not alter the levels of DOCK4 or IMMP2L transcripts. Conversely, IMMP2L_DOCK4 microdeletions do not affect the expression levels of ZNF277. We postulate that ZNF277 microdeletions may contribute to the risk of language impairments in a manner that is independent of the autism risk loci previously described in this region.
C1 [Ceroni, Fabiola; Maestrini, Elena; Bacchelli, Elena] Univ Bologna, Dipartimento Farm & Biotecnol, Bologna, Italy.
[Simpson, Nuala H.; Donnelly, Peter; Martin, Hilary; Pagnamenta, Alistair T.; Newbury, Dianne F.; SLI Consortium; WGS500 Consortium] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England.
[Francks, Clyde] Max Planck Inst Psycholinguist, Nijmegen, Netherlands.
[Francks, Clyde; Fisher, Simon E.] Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands.
[Baird, Gillian] St Thomas Hosp, Guys & St Thomas NHS Fdn Trust, Newcomen Childrens Neurosci Ctr, London, England.
[Conti-Ramsden, Gina] Univ Manchester, Sch Psychol Sci, Manchester, Lancs, England.
[Clark, Ann] Queen Margaret Univ, Edinburgh, Midlothian, Scotland.
[Bolton, Patrick F.] Kings Coll London, Inst Psychiat, Dept Child & Adolescent Psychiat, London, England.
[Bolton, Patrick F.] Kings Coll London, Inst Psychiat, Dept Social Genet, London, England.
[Bolton, Patrick F.] Kings Coll London, Dev Psychiat Ctr, Inst Psychiat, London, England.
[Hennessy, Elizabeth R.] Univ Aberdeen, Univ Child Hlth, Aberdeen, Scotland.
[Hennessy, Elizabeth R.] Univ Aberdeen, DMDE, Aberdeen, Scotland.
[Bentley, David R.] Illumina Cambridge Ltd, Saffron Walden, Essex, England.
[Parr, Jeremy; IMGSAC] Newcastle Univ, Inst Neurosci & Hlth & Soc, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
[Pagnamenta, Alistair T.] NIHR Biomed Res Ctr, Oxford, England.
[Pagnamenta, Alistair T.] Univ Oxford, Oxford, England.
RP Newbury, DF (reprint author), Univ Oxford, Wellcome Trust Ctr Human Genet, Roosevelt Dr, Oxford OX3 7BN, England.
EM dianne@well.ox.ac.uk
RI Fisher, Simon/E-9130-2012; Bailey, Anthony/J-2860-2014
OI Fisher, Simon/0000-0002-3132-1996; Bailey, Anthony/0000-0003-4257-972X
FU Medical Research Council [G1000569/1, MR/J003719/1]; Max Planck Society;
National Institute of Health Research (UK) Senior Investigator award;
Biomedical Research Centre in Mental Health at the South London &
Maudsley NHS Trust Hospital, London; Wellcome Trust [090532/Z/09/Z,
060774, 076566]
FX We would like to thank all the families, professionals and individuals
who participated in this research. Dianne Newbury is an MRC Career
Development Fellow and a Junior Research Fellow at St John's College,
University of Oxford. The work of the Newbury lab is funded by the
Medical Research Council (G1000569/1 and MR/J003719/1). The genotyping
of samples was funded by the Max Planck Society. The collection of the
SLIC samples was supported by the Wellcome Trust (060774 and 076566). PF
Bolton is supported by a National Institute of Health Research (UK)
Senior Investigator award and the Biomedical Research Centre in Mental
Health at the South London & Maudsley NHS Trust Hospital, London. The
WGS500 Consortium is a joint project of the Wellcome Trust Centre for
Human Genetics, the NIHR Oxford Biomedical Research Centre and Illumina.
The work of the Wellcome Trust Centre in Oxford is supported by the
Wellcome Trust (090532/Z/09/Z).
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NR 54
TC 3
Z9 3
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1018-4813
EI 1476-5438
J9 EUR J HUM GENET
JI Eur. J. Hum. Genet.
PD OCT
PY 2014
VL 22
IS 10
BP 1165
EP 1171
DI 10.1038/ejhg.2014.4
PG 7
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AQ0LZ
UT WOS:000342476100003
PM 24518835
ER
PT J
AU Myrick, LK
Nakamoto-Kinoshita, M
Lindor, NM
Kirmani, S
Cheng, XD
Warren, ST
AF Myrick, Leila K.
Nakamoto-Kinoshita, Mika
Lindor, Noralane M.
Kirmani, Salman
Cheng, Xiaodong
Warren, Stephen T.
TI Fragile X syndrome due to a missense mutation
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE fragile X syndrome; mutation; missense; FMR1 sequencing
ID MENTAL-RETARDATION PROTEIN; RNA-BINDING; POINT MUTATION; CGG REPEAT; KH
DOMAIN; FMR1; IDENTIFICATION
AB Fragile X syndrome is a common inherited form of intellectual disability and autism spectrum disorder. Most patients exhibit a massive CGG-repeat expansion mutation in the FMR1 gene that silences the locus.. In over two decades since the discovery of FMR1, only a single missense mutation (p.(lle304Asn)) has been reported as causing fragile X syndrome. Here we describe a 16-year-old male presenting with fragile X syndrome but without the repeat expansion mutation. Rather, we find a missense mutation, c.797G>A, that replaces glycine 266 with glutamic acid (p.(Gly266Glu)). The Gly266Glu FMR protein abolished many functional properties of the protein. This patient highlights the diagnostic utility of FMR1 sequencing.
C1 [Myrick, Leila K.; Nakamoto-Kinoshita, Mika; Warren, Stephen T.] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA.
[Lindor, Noralane M.] Mayo Clin, Dept Hlth Sci Res, Scottsdale, AZ USA.
[Kirmani, Salman] Mayo Clin, Dept Med Genet, Scottsdale, AZ USA.
[Cheng, Xiaodong; Warren, Stephen T.] Emory Univ, Dept Biochem, Atlanta, GA 30322 USA.
[Warren, Stephen T.] Emory Univ, Dept Pediat, Atlanta, GA 30322 USA.
RP Warren, ST (reprint author), Emory Univ, Sch Med, Dept Human Genet, 615 Michael St,Suite 301, Atlanta, GA 30322 USA.
EM swarren@emory.edu
FU National Institutes of Health [HD24064, MH087977]
FX This study was supported by grants from the National Institutes of
Health (HD24064 and MH087977 to Dr Warren). We thank the patient and his
family for their cooperation. We thank David Cutler for his helpful
discussion and the Emory Viral Vector Core for lentivirus production.
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NR 25
TC 3
Z9 4
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1018-4813
EI 1476-5438
J9 EUR J HUM GENET
JI Eur. J. Hum. Genet.
PD OCT
PY 2014
VL 22
IS 10
BP 1185
EP 1189
DI 10.1038/ejhg.2013.311
PG 5
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AQ0LZ
UT WOS:000342476100006
PM 24448548
ER
PT J
AU Olza-Fernandez, I
Gabriel, MAM
Gil-Sanchez, A
Garcia-Segura, LM
Arevalo, MA
AF Olza-Fernandez, Ibone
Marin Gabriel, Miguel Angel
Gil-Sanchez, Alfonso
Garcia-Segura, Luis M.
Angeles Arevalo, Maria
TI Neuroendocrinology of childbirth and mother-child attachment: The basis
of an etiopathogenic model of perinatal neurobiological disorders
SO FRONTIERS IN NEUROENDOCRINOLOGY
LA English
DT Review
DE Autism; Cesarean section; Childbirth; Maternal behavior; Mother-child
attachment; Noradrenaline; Oxytocin; Progesterone; Prolactin;
Vasopressin
ID POSTTRAUMATIC-STRESS-DISORDER; PITUITARY-ADRENAL AXIS; TO-SKIN CONTACT;
HYPOTHALAMIC MAGNOCELLULAR NEURONS; ENDOGENOUS OPIOID INHIBITION;
RANDOMIZED CONTROLLED-TRIAL; EMERGENCY CESAREAN-SECTION; WHITE-MATTER
DEVELOPMENT; EARLY MATERNAL REJECTION; NEONATAL RISK-FACTORS
AB This review focuses on the neuroendocrine mechanisms in the mother and the newborn that are involved in the generation and consolidation of mother-child attachment. The role that different hormones and neurotransmitters play on the regulation of these mechanisms during parturition, the immediate postpartum period and lactation is discussed. Interferences in the initiation of mother-child attachment may have potential long-term effects for the behavior and affection of the newborn. Therefore, the possible consequences of alterations in the physiological neuroendocrine mechanisms of attachment, caused by elective Cesarean section, intrapartum hormonal manipulations, preterm delivery, mother-infant postpartum separation and bottle-feeding instead of breastfeeding are also discussed. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Olza-Fernandez, Ibone] Autonomous Univ Madrid, Dept Psychiat, Hosp Univ Puerta de Hierro Majadahonda, E-28049 Madrid, Spain.
[Marin Gabriel, Miguel Angel] Hosp Univ Puerta de Hierro Majadahonda, Dept Pediat, Madrid, Spain.
[Gil-Sanchez, Alfonso] Hosp Gen Univ Santa Maria del Rosell Cartagena, Unidad Docente Salud Mental Reg Murcia, Murcia, Spain.
[Garcia-Segura, Luis M.; Angeles Arevalo, Maria] CSIC, Inst Cajal, E-28002 Madrid, Spain.
RP Garcia-Segura, LM (reprint author), CSIC, Inst Cajal, Ave Doctor Arce 37, E-28002 Madrid, Spain.
EM lmgs@cajal.csic.es
RI Arevalo, Maria-Angeles/J-7000-2014
OI Arevalo, Maria-Angeles/0000-0002-4303-9576
FU Fondo de Investigaciones Sanitarias [PI10/00791]; Ministerio de Economia
y Competitividad, Spain [BFU2011-30217-C03-01]
FX Grant support from the Fondo de Investigaciones Sanitarias (PI10/00791)
and Ministerio de Economia y Competitividad, Spain
(BFU2011-30217-C03-01).
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NR 268
TC 2
Z9 2
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0091-3022
EI 1095-6808
J9 FRONT NEUROENDOCRIN
JI Front. Neuroendocrinol.
PD OCT
PY 2014
VL 35
IS 4
BP 459
EP 472
DI 10.1016/j.yfrne.2014.03.007
PG 14
WC Endocrinology & Metabolism; Neurosciences
SC Endocrinology & Metabolism; Neurosciences & Neurology
GA AQ1GB
UT WOS:000342528800005
PM 24704390
ER
PT J
AU Bishop, SL
Farmer, C
Thurm, A
AF Bishop, S. L.
Farmer, C.
Thurm, A.
TI EARLY MOTOR MILESTONE MARKERS OF DEVELOPMENTAL TRAJECTORIES: AGE OF
WALKING IN AUTISM SPECTRUM DISORDERS (ASD) VS. NON-ASD
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Meeting Abstract
DE gross motor milestones; walking; intellectual disability; autism
spectrum disorder; developmental disability
C1 [Bishop, S. L.] Weill Cornell Med Coll, White Plains, NY USA.
[Farmer, C.; Thurm, A.] NIH, Bethesda, MD 20892 USA.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD OCT
PY 2014
VL 58
IS 10
BP 883
EP 883
PG 1
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AP5YA
UT WOS:000342153400003
ER
PT J
AU Brandenburg-Goddard, MN
Van Rijn, S
Rombouts, SARB
Veer, IM
Swaab, H
AF Brandenburg-Goddard, M. N.
Van Rijn, S.
Rombouts, S. A. R. B.
Veer, I. M.
Swaab, H.
TI A COMPARISON OF NEURAL CORRELATES UNDERLYING SOCIAL COGNITION IN
KLINEFELTER SYNDROME AND AUTISM
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Meeting Abstract
DE Klinefelter; autism; social cognition; fMRI; facial affect processing
C1 [Brandenburg-Goddard, M. N.; Van Rijn, S.; Swaab, H.] Leiden Univ, NL-2333 AK Leiden, Netherlands.
[Rombouts, S. A. R. B.] Leiden Univ, Inst Psychol, NL-2333 AK Leiden, Netherlands.
[Brandenburg-Goddard, M. N.; Van Rijn, S.; Rombouts, S. A. R. B.; Veer, I. M.; Swaab, H.] Leiden Inst Brain & Cognit, NL-2333 ZA Leiden, Netherlands.
[Rombouts, S. A. R. B.] Leiden Univ, Med Ctr, Dept Radiol, NL-2333 ZA Leiden, Netherlands.
[Veer, I. M.] Charite, Div Mind & Brain Res, Dept Psychiat & Psychotherapy, D-13353 Berlin, Germany.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD OCT
PY 2014
VL 58
IS 10
BP 883
EP 883
PG 1
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AP5YA
UT WOS:000342153400004
ER
PT J
AU Hidding, E
De Sonneville, LMJ
Van Engeland, H
Vorstman, JAS
Swaab, H
AF Hidding, E.
De Sonneville, L. M. J.
Van Engeland, H.
Vorstman, J. A. S.
Swaab, H.
TI EXECUTIVE FUNCTIONING IN RELATION TO AUTISM AND ADHD SYMPTOMATOLOGY IN
22Q11.2 DELETION SYNDROME
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Meeting Abstract
DE 22q11.2 deletion syndrome; velo-cardio-facial syndrome; executive
functioning; autism symptomatology; ADHD symptomatology
C1 [Hidding, E.; De Sonneville, L. M. J.; Swaab, H.] Leiden Univ, Dept Clin Child & Adolescent Studies, Leiden, Netherlands.
[De Sonneville, L. M. J.; Swaab, H.] Leiden Inst Brain & Cognit, Leiden, Netherlands.
[Van Engeland, H.; Vorstman, J. A. S.] Univ Med Ctr Utrecht, Dept Psychiat, Brain Ctr Rudolph Magnus, Utrecht, Netherlands.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD OCT
PY 2014
VL 58
IS 10
BP 885
EP 885
PG 1
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AP5YA
UT WOS:000342153400012
ER
PT J
AU Howlin, P
Warner, G
Moss, J
Smith, P
AF Howlin, P.
Warner, G.
Moss, J.
Smith, P.
TI INVESTIGATING THE EFFICACY OF THE SOCIAL COMMUNICATION QUESTIONNAIRE FOR
IDENTIFYING AUTISM SPECTRUM DISORDER IN CHILDREN WITH DOWN SYNDROME
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Meeting Abstract
DE Down syndrome; autism spectrum disorder
C1 [Howlin, P.; Warner, G.; Smith, P.] Kings Coll London, Inst Psychiat, London WC2R 2LS, England.
[Moss, J.] Univ Birmingham, Cerebra Ctr, Birmingham B15 2TT, W Midlands, England.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD OCT
PY 2014
VL 58
IS 10
BP 886
EP 886
PG 1
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AP5YA
UT WOS:000342153400014
ER
PT J
AU Naerland, TN
Storvik, SS
Warner, GW
Howlin, PH
AF Naerland, T. N.
Storvik, S. S.
Warner, G. W.
Howlin, P. H.
TI AGE RELATED DIFFERENCES IN HYPERACTIVITY/INATTENTION AND PEER
PROBLEMS/AUTISM SPECTRUM DISORDER AMONG INDIVIDUALS WITH DOWN SYNDROME
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Meeting Abstract
DE Down Syndrome; Attention; Hyperactivity; Passivity; Peer problem; Autism
spectrum disorder
C1 [Naerland, T. N.; Storvik, S. S.] Univ Hosp Oslo, Natl Competence Unit Autism, Oslo, Norway.
[Warner, G. W.; Howlin, P. H.] Kings Coll London, London WC2R 2LS, England.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD OCT
PY 2014
VL 58
IS 10
BP 886
EP 886
PG 1
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AP5YA
UT WOS:000342153400016
ER
PT J
AU Penhallow, J
Moss, J
Wilde, L
Eden, K
Waite, J
Bull, L
Crawford, H
Heald, M
Nelson, L
Oliver, C
AF Penhallow, J.
Moss, J.
Wilde, L.
Eden, K.
Waite, J.
Bull, L.
Crawford, H.
Heald, M.
Nelson, L.
Oliver, C.
TI LIFESPAN CHANGES IN AUTISM SPECTRUM DISORDER CHARACTERISTICS IN SEVEN
GENETIC SYNDROMES: AN EIGHT YEAR FOLLOW UP
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Meeting Abstract
DE behavioural phenotype; lifespan changes; genetic syndromes; autism
spectrum disorder characteristics; repetitive behaviour
C1 [Penhallow, J.; Moss, J.; Wilde, L.; Eden, K.; Waite, J.; Bull, L.; Crawford, H.; Heald, M.; Nelson, L.; Oliver, C.] Univ Birmingham, Cerebra Ctr Neurodev Disorders, Birmingham, W Midlands, England.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD OCT
PY 2014
VL 58
IS 10
BP 886
EP 887
PG 2
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AP5YA
UT WOS:000342153400017
ER
PT J
AU Roberts, JE
Mccary, LM
Shinkareva, S
Mcgrath, S
Caravella, K
AF Roberts, J. E.
Mccary, L. M.
Shinkareva, S.
Mcgrath, S.
Caravella, K.
TI CROSS-SYNDROME INFANT DEVELOPMENTAL TRAJECTORIES: AUTISM, FRAGILE X,
DEVELOPMENTAL DELAY
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Meeting Abstract
DE fragile X syndrome; autism; early detection; developmental trajectories;
infants
C1 [Roberts, J. E.; Mccary, L. M.; Shinkareva, S.; Mcgrath, S.; Caravella, K.] Univ S Carolina, Columbia, SC 29208 USA.
[Mccary, L. M.] Univ Wisconsin, Waisman Ctr, Madison, WI 53706 USA.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD OCT
PY 2014
VL 58
IS 10
BP 887
EP 887
PG 1
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AP5YA
UT WOS:000342153400019
ER
PT J
AU Strydom, A
Wolfe, K
Mcquillin, A
Bass, N
AF Strydom, A.
Wolfe, K.
Mcquillin, A.
Bass, N.
TI COPY NUMBER VARIATIONS IN ADULTS WITH INTELLECTUAL DISABILITY AND
NEUROPSYCHIATRIC DISORDERS
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Meeting Abstract
DE Intellectual disability; psychosis; autism; dual diagnosis; genetics;
aCGH
C1 [Strydom, A.; Wolfe, K.; Mcquillin, A.; Bass, N.] UCL, Div Psychiat, London, England.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD OCT
PY 2014
VL 58
IS 10
BP 888
EP 888
PG 1
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AP5YA
UT WOS:000342153400022
ER
PT J
AU Von Gontard, A
Pirrung, M
Niemczyk, J
Equit, M
Curfs, L
AF Von Gontard, A.
Pirrung, M.
Niemczyk, J.
Equit, M.
Curfs, L.
TI INCONTINENCE IN CHILDREN WITH AUTISM SPECTRUM DISORDER
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Meeting Abstract
DE Autism spectrum disorder; nocturnal enuresis; daytime urinary
incontinence; fecal incontinence
C1 [Von Gontard, A.; Pirrung, M.; Niemczyk, J.; Equit, M.] Saarland Univ Hosp, Dept Child & Adolescent Psychiat, Homburg, Germany.
[Curfs, L.] Maastricht Univ, Med Ctr, Governor Kremers Ctr, Dept Clin Genet, Maastricht, Netherlands.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD OCT
PY 2014
VL 58
IS 10
BP 888
EP 889
PG 2
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AP5YA
UT WOS:000342153400025
ER
PT J
AU Lord, C
AF Lord, C.
TI DEVELOPMENTAL TRAJECTORIES IN ASD
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Meeting Abstract
DE autism; longitudinal; trajectories
C1 [Lord, C.] New York Presbyterian Ctr Autism & Developing Bra, White Plains, NY 10605 USA.
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD OCT
PY 2014
VL 58
IS 10
BP 890
EP 890
PG 1
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AP5YA
UT WOS:000342153400030
ER
PT J
AU Klusek, J
Martin, GE
Losh, M
AF Klusek, J.
Martin, G. E.
Losh, M.
TI Consistency between research and clinical diagnoses of autism among boys
and girls with fragile X syndrome
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Article
DE ADI-R; ADOS; autism; autism spectrum disorder; comorbidity; fragile X
syndrome
ID SPECTRUM DISORDER; DEVELOPMENTAL DISORDERS; IDIOPATHIC AUTISM; BEHAVIOR
PROFILE; SOCIAL-BEHAVIOR; YOUNG MALES; FMR1 GENE; CHILDREN; INDIVIDUALS;
ADOLESCENTS
AB BackgroundPrior research suggests that 60-74% of males and 16-45% of females with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD) in research settings. However, relatively little is known about the rates of clinical diagnoses in FXS and whether such diagnoses are consistent with those performed in a research setting using gold standard diagnostic tools.
MethodThis study explored whether boys and girls with FXS met criteria for ASD in a research setting using the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R), and then compared these data with the frequency of parent-reported clinical diagnoses. We also examined child and family characteristics as potential diagnostic predictors across settings. Participants included 35 females and 51 males with FXS (mean age: 10 years), who were from Eastern and Midwestern regions of the USA.
ResultsAbout half of the children met criteria for ASD on either the ADOS or ADI-R, with ASD occurring three times more frequently in males than females (approximate to 75% vs. approximate to 25%). In contrast, approximate to 25% of participants of both genders had received a clinical diagnosis of ASD. While cognitive and language skills predicted diagnostic outcome on the ADOS and ADI-R, these skills did not predict clinical diagnoses. Executive functions predicted clinical diagnoses, but not diagnoses per the ADOS or ADI-R.
ConclusionsASD in FXS may be under-diagnosed in clinical/educational settings, which raises questions regarding access to ASD-related services.
C1 [Klusek, J.; Martin, G. E.] Univ N Carolina, Frank Porter Graham Child Dev Inst, Chapel Hill, NC USA.
[Losh, M.] Northwestern Univ, Roxelyn & Richard Pepper Dept Commun Sci & Disord, Evanston, IL 60201 USA.
RP Losh, M (reprint author), Northwestern Univ, Roxelyn & Richard Pepper Dept Commun Sci & Disord, Evanston, IL 60201 USA.
EM m-losh@northwestern.edu
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NR 45
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD OCT
PY 2014
VL 58
IS 10
BP 940
EP 952
DI 10.1111/jir.12121
PG 13
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AP5YA
UT WOS:000342153400038
PM 24528851
ER
PT J
AU Raznahan, A
AF Raznahan, Armin
TI Sizing Up the Search for Autism Spectrum Disorder (ASD) Risk Markers
During Prenatal and Early Postnatal Life
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Editorial Material
ID BRAIN OVERGROWTH
C1 [Raznahan, Armin] NIMH, Bethesda, MD 20892 USA.
[Raznahan, Armin] NIH, Intramural Res Program, Bethesda, MD 20892 USA.
RP Raznahan, A (reprint author), NIMH, NIH, Child Psychiat Branch, Room 4C108,Bldg 10,10 Ctr Dr, Bethesda, MD 20892 USA.
EM raznahana@mail.nih.gov
CR Abel KM, 2013, AM J PSYCHIAT, V170, P391, DOI 10.1176/appi.ajp.2012.12040543
Abel KM, 2010, ARCH GEN PSYCHIAT, V67, P923, DOI 10.1001/archgenpsychiatry.2010.100
Betancur C, 2011, BRAIN RES, V1380, P42, DOI 10.1016/j.brainres.2010.11.078
Campbell DJ, 2014, J AM ACAD CHILD PSY, V53, P1063, DOI 10.1016/j.jaac.2014.07.008
Chaste P, 2013, BIOL PSYCHIAT, V74, P576, DOI 10.1016/j.biopsych.2013.04.018
Cheslack-Postava K, 2014, J AM ACAD CHILD PSY, V53, P1074, DOI 10.1016/j.jaac.2014.06.009
Courchesne E, 2003, JAMA-J AM MED ASSOC, V290, P337, DOI 10.1001/jama.290.3.337
Raznahan A, 2013, BIOL PSYCHIAT, V74, P563, DOI 10.1016/j.biopsych.2013.03.022
Wolff JJ, 2012, AM J PSYCHIAT, V169, P589, DOI 10.1176/appi.ajp.2011.11091447
Zwaigenbaum L, 2014, J AM ACAD CHILD PSY, V53, P1053, DOI 10.1016/j.jaac.2014.07.007
NR 10
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0890-8567
EI 1527-5418
J9 J AM ACAD CHILD PSY
JI J. Am. Acad. Child Adolesc. Psychiatr.
PD OCT
PY 2014
VL 53
IS 10
BP 1045
EP 1047
DI 10.1016/j.jaac.2014.07.010
PG 3
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AP9MO
UT WOS:000342404100003
PM 25245346
ER
PT J
AU Zwaigenbaum, L
Young, GS
Stone, WL
Dobkins, K
Ozonoff, S
Brian, J
Bryson, SE
Carver, LJ
Hutman, T
Iverson, JM
Landa, RJ
Messinger, D
AF Zwaigenbaum, Lonnie
Young, Gregory S.
Stone, Wendy L.
Dobkins, Karen
Ozonoff, Sally
Brian, Jessica
Bryson, Susan E.
Carver, Leslie J.
Hutman, Ted
Iverson, Jana M.
Landa, Rebecca J.
Messinger, Daniel
TI Early Head Growth in Infants at Risk of Autism: A Baby Siblings Research
Consortium Study
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE autism spectrum disorder; head circumference; high-risk design;
longitudinal study; early detection
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; BRAIN OVERGROWTH;
PSYCHIATRIC-DISORDERS; CIRCUMFERENCE GROWTH; CHILDREN; LIFE; AGE;
REGRESSION; VOLUME
AB Objective: Although early brain overgrowth is frequently reported in autism spectrum disorder (ASD), the relationship between ASD and head circumference (HC) is less clear, with inconsistent findings from longitudinal studies that include community controls. Our aim was to examine whether head growth in the first 3 years differed between children with ASD from a high-risk (HR) sample of infant siblings of children with ASD (by definition, multiplex), HR siblings not diagnosed with ASD, and low-risk (LR) controls. Method: Participants included 442 HR and 253 LR infants from 12 sites of the international Baby Siblings Research Consortium. Longitudinal HC data were obtained prospectively, supplemented by growth records. Random effects nonlinear growth models were used to compare HC in HR infants and LR infants. Additional comparisons were conducted with the HR group stratified by diagnostic status at age 3: ASD (n = 77), developmental delay (DD; n = 32), and typical development (TD; n = 333). Nonlinear growth models were also developed for height to assess general overgrowth associated with ASD. Results: There was no overall difference in head circumference growth over the first 3 years between HR and LR infants, although secondary analyses suggested possible increased total growth in HR infants, reflected by the model asymptote. Analyses stratifying the HR group by 3-year outcomes did not detect differences in head growth or height between HR infants who developed ASD and those who did not, nor between infants with ASD and LR controls. Conclusion: Head growth was uninformative as an ASD risk marker within this HR cohort.
C1 [Zwaigenbaum, Lonnie] Univ Alberta, Edmonton, AB, Canada.
[Young, Gregory S.; Ozonoff, Sally] Univ Calif Davis, Davis, CA 95616 USA.
[Stone, Wendy L.] Univ Washington, Seattle, WA 98195 USA.
[Dobkins, Karen; Carver, Leslie J.] Univ Calif San Diego, San Diego, CA 92103 USA.
[Brian, Jessica] Univ Toronto, Toronto, ON M5S 1A1, Canada.
[Bryson, Susan E.] Dalhousie Univ, Halifax, NS, Canada.
[Hutman, Ted] Univ Calif Los Angeles, Los Angeles, CA USA.
[Iverson, Jana M.] Univ Pittsburgh, Pittsburgh, PA 15260 USA.
[Landa, Rebecca J.] Kennedy Krieger Inst, Baltimore, MD USA.
[Landa, Rebecca J.] Johns Hopkins Sch Med, Baltimore, MD USA.
[Messinger, Daniel] Univ Miami, Coral Gables, FL 33124 USA.
RP Zwaigenbaum, L (reprint author), Glenrose Rehabil Hosp GE209, 10230 111th Ave NW, Edmonton, AB T5G 0B7, Canada.
EM lonniez@ualberta.ca
FU Autism Speaks; National Institutes of Health [NIH: HD54979, MH059630,
HD052804, HD043292, HD047417, HD0057284, MH068398, HD055784, MH096961]
FX Autism Speaks provided funding to establish the Baby Siblings Research
Consortium (BSRC) database, used for the study analyses.Data collection
at contributing sites was supported by giants from the National
Institutes of Health (NIH: HD54979, J.I.; MH059630, R.L.; HD052804,
K.D., L.C.; HD043292, W.S.; HD047417, D.M.; HD0057284, D.M, W S;
MH068398, S.O.; HD055784 and MH096961, T H.), the Canadian Institutes of
Health Research (62024 and 102665, S.E.B., J.B., L.Z.) Autism Speaks
(J.I., W.S.), Autism, Speaks Canada (S.E.B., J.B., L.Z.), and
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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 0890-8567
EI 1527-5418
J9 J AM ACAD CHILD PSY
JI J. Am. Acad. Child Adolesc. Psychiatr.
PD OCT
PY 2014
VL 53
IS 10
BP 1053
EP 1062
DI 10.1016/j.jaac.2014.07.007
PG 10
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AP9MO
UT WOS:000342404100006
PM 25245349
ER
PT J
AU Campbell, DJ
Chang, J
Chawarska, K
AF Campbell, Daniel J.
Chang, Joseph
Chawarska, Katarzyna
TI Early Generalized Overgrowth in Autism Spectrum Disorder: Prevalence
Rates, Gender Effects, and Clinical Outcomes
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE autism; infancy; head circumference; overgrowth; gender
ID EARLY BRAIN OVERGROWTH; AGE 2 YEARS; HEAD CIRCUMFERENCE; ACCELERATED
HEAD; BODY GROWTH; 1ST YEAR; CHILDREN; INFANTS; LIFE; ENLARGEMENT
AB Objective: Although early head and body overgrowth have been well documented in autism spectrum disorder (ASD), their prevalence and significance remain unclear. It is also unclear whether overgrowth affects males and females differentially, and whether it is associated with clinical outcomes later in life. Method: To evaluate prevalence of somatic overgrowth, gender effects, and associations with clinical outcomes, head circumference, height, and weight measurements were collected retrospectively between birth and 2 years of age in toddlers with ASP (n = 200) and typically developing (TD; n = 147) community controls. Symptom severity, verbal, and nonverbal functioning were assessed at 4 years. Results: Abnormalities in somatic growth in infants with ASD were consistent with early generalized overgrowth (EGO). Boys but not girls with ASD were larger and exhibited an increased rate of extreme EGO compared to community controls (18.0% versus 3.4%). Presence of a larger body at birth and postnatal overgrowth were associated independently with poorer social, verbal, and nonverbal skills at 4 years. Conclusion: Although early growth abnormalities in ASD are less common than previously thought, their presence is predictive of lower social, verbal, and nonverbal skills at 4 years, suggesting that they may constitute a biomarker for identifying toddlers with ASD at risk for less-optimal outcomes. The results highlight that the search for mechanisms underlying atypical brain development in ASD should consider factors responsible for both neural and nonneural tissue development during prenatal and early postnatal periods, and can be informed by the finding that early overgrowth may be more readily observed in males than in females with ASP.
C1 [Campbell, Daniel J.] Amgen Inc, Thousand Oaks, CA 91320 USA.
[Chawarska, Katarzyna] Yale Univ, Sch Med, Ctr Child Study, New Haven, CT 06510 USA.
[Chang, Joseph] Yale Univ, New Haven, CT 06510 USA.
RP Chawarska, K (reprint author), Yale Univ, Sch Med, 40 Temple St,Suite 7D, New Haven, CT 06510 USA.
FU Studies to Advance Autism Research and Treatment, National Institute of
Mental Health [U54 MH66494]; National Institute of Deafness and Other
Communication Disorders from the Autism Center of Excellence, National
Institute of Child Health and Human Development [P50 MH081756]; Autism
Speaks Foundation [1694, 1296, 7614]
FX This study was supported by grant U54 MH66494, Project 3 (P.I.. K.C )
from the Studies to Advance Autism Research and Treatment, National
Institute of Mental Health and National Institute of Deafness and Other
Communication Disorders, grant P50 MH081756, Project 2 (P.I. K.C ) from
the Autism Center of Excellence, National Institute of Child Health and
Human Development; and grants 1694, 1296, and 7614 from Autism Speaks
Foundation (P.I.. K.C.).
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NR 63
TC 4
Z9 4
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0890-8567
EI 1527-5418
J9 J AM ACAD CHILD PSY
JI J. Am. Acad. Child Adolesc. Psychiatr.
PD OCT
PY 2014
VL 53
IS 10
BP 1063
EP 1073
DI 10.1016/j.jaac.2014.07.008
PG 11
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AP9MO
UT WOS:000342404100007
PM 25245350
ER
PT J
AU Cheslack-Postava, K
Suominen, A
Jokiranta, E
Lehti, V
McKeague, IW
Sourander, A
Brown, AS
AF Cheslack-Postava, Keely
Suominen, Auli
Jokiranta, Elina
Lehti, Venla
McKeague, Ian W.
Sourander, Andre
Brown, Alan S.
TI Increased Risk of Autism Spectrum Disorders at Short and Long
Interpregnancy Intervals in Finland
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE autism spectrum disorders; autism; interpregnancy interval; interbirth
interval; birth spacing
ID CHILDHOOD AUTISM; ANTIDEPRESSANT USE; BIRTH COHORT; PREGNANCY;
ASSOCIATION; CHILDREN; SCHIZOPHRENIA; METAANALYSIS; BEHAVIORS; EXPOSURE
AB Objective: Both short and long interpregnancy intervals (IPI) are believed to present possible adverse conditions for fetal development. Short IPI has recently been associated with increased risk of autism, but whether long IPI increases risk for autism spectrum disorders (ASD) has not been thoroughly investigated. We investigated the association between short and long IPI in a Finnish population based study. Method: This study was conducted in the Finnish Prenatal Study of Autism, which is based in a national birth cohort. Children born in Finland in 1987 to 2005 and diagnosed with ASD by 2007 were identified through the Finnish Hospital Discharge Register. A total of 2,208 non-firstborn patients with ASD and 5,163 matched controls identified from the Finnish Medical Birth Register were included in the primary analysis. The association between IPI and ASD was determined using conditional logistic regression and adjusted for potential confounders. Results: Relative to births with an IPI of 24 to 59 months, those with the shortest IPI (<12 months) had an increased risk of ASD (odds ratio [OR] = 1.50, 95% CI = 1.28, 1.74) in confounder-adjusted models, whereas the ORs for longer IPI births (60-119 months and >= 120 months) were 1.28 (95% CI = 1.08, 1.52) and 1.44 (95% CI = 1.12, 1.85), respectively. Conclusion: This study provides evidence that risk of ASD is increased at long as well as short IPI.
C1 [Cheslack-Postava, Keely; McKeague, Ian W.; Brown, Alan S.] Columbia Univ, Mailman Sch Publ Hlth, New York, NY USA.
[Suominen, Auli; Jokiranta, Elina; Lehti, Venla] Univ Turku, Turku, Finland.
[Sourander, Andre] Turku Univ Hosp, Turku, Finland.
[Sourander, Andre; Brown, Alan S.] Columbia Univ Coll Phys & Surg, New York State Psychiat Inst, New York, NY 10032 USA.
RP Cheslack-Postava, K (reprint author), 722 West 168th St,Rm 720C, New York, NY 10032 USA.
EM kc2497@columbia.edu
FU National Institutes of Health [NIEHS R01ES019004, NIMH K02 MH065422,
NIMH T32-13043]; Turku University Foundation; Finnish Epilepsy Society
FX This study was funded by the National Institutes of Health (NIEHS
R01ES019004 [A.S.B.], NIMH K02 MH065422 [A.S.B.], and NIMH T32-13043
[K.C.P.]), the Turku University Foundation (E.J.), and the Finnish
Epilepsy Society (E.J.).
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NR 37
TC 2
Z9 2
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0890-8567
EI 1527-5418
J9 J AM ACAD CHILD PSY
JI J. Am. Acad. Child Adolesc. Psychiatr.
PD OCT
PY 2014
VL 53
IS 10
BP 1074
EP 1081
DI 10.1016/j.jaac.2014.06.009
PG 8
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AP9MO
UT WOS:000342404100008
PM 25245351
ER
PT J
AU Ozonoff, S
Miller, M
AF Ozonoff, Sally
Miller, Meghan
TI The Relationship Between Social Communication Disorder (SCD) and Broad
Autism Phenotype (BAP) Reply
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Letter
C1 [Ozonoff, Sally; Miller, Meghan] Univ Calif Davis, Sacramento, CA 95817 USA.
RP Ozonoff, S (reprint author), Univ Calif Davis, Sacramento, CA 95817 USA.
EM Sally.ozonoff@ucdmc.ucdavis.edu
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NR 3
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0890-8567
EI 1527-5418
J9 J AM ACAD CHILD PSY
JI J. Am. Acad. Child Adolesc. Psychiatr.
PD OCT
PY 2014
VL 53
IS 10
BP 1130
EP 1131
DI 10.1016/j.jaac.2014.06.010
PG 2
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AP9MO
UT WOS:000342404100015
PM 25245358
ER
PT J
AU Tufan, E
AF Tufan, Evren
TI The Relationship Between Social Communication Disorder (SCD) and Broad
Autism Phenotype (BAP)
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Letter
C1 Abant Izzet Baysal Univ, Bolu, Turkey.
RP Tufan, E (reprint author), Abant Izzet Baysal Univ, Bolu, Turkey.
EM tevrenus@yahoo.com
CR American Psychiatric Association, 2013, DIAGNOSTIC AND STATI
Ozonoff S, 2014, J AM ACAD CHILD PSY, V53, P398, DOI 10.1016/j.jaac.2013.12.020
Pruett JR, 2014, J AM ACAD CHILD PSY, V53, P392, DOI 10.1016/j.jaac.2014.01.011
NR 3
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0890-8567
EI 1527-5418
J9 J AM ACAD CHILD PSY
JI J. Am. Acad. Child Adolesc. Psychiatr.
PD OCT
PY 2014
VL 53
IS 10
BP 1130
EP 1130
DI 10.1016/j.jaac.2014.06.011
PG 1
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AP9MO
UT WOS:000342404100014
PM 25245357
ER
PT J
AU Thomas, KC
Parish, SL
Williams, CS
AF Thomas, Kathleen C.
Parish, Susan L.
Williams, Christianna S.
TI Healthcare Expenditures for Autism During Times of School Transition:
Some Vulnerable Families Fall Behind
SO MATERNAL AND CHILD HEALTH JOURNAL
LA English
DT Article
DE Autism; Medical expenditures; School transition; Disparities
ID MEDICAL-CARE; LIFE-COURSE; SPECTRUM DISORDERS; FINANCIAL BURDEN;
CHILDRENS-HEALTH; BEHAVIORAL-MODEL; NATIONAL-SURVEY; SERVICE USE;
ACCESS; ADOLESCENTS
AB This study explores the association between school transition age and healthcare expenditures for children with autism. The paper explores three questions: (1) What is the composition of services overall and paid out-of-pocket and does it differ at transition? (2) Do transition age children have higher total and out-of-pocket health care expenditures than other children with autism? (3) Does the effect of transition differ for vulnerable families who often experience problems accessing care? Pooled data from the Medical Expenditure Panel Survey 2000-2009 on children under 21 years of age with autism (n = 337) were used to describe expenditures for services by source of payment and estimate two-part models of total and out-of-pocket expenditures as a function of child transition age (5, 6, 11, 14) and other child and family characteristics. Median total annual expenditures for health care among children with autism are $2,400; median out-of-pocket expenditures are $390. The majority of total expenditures are devoted to outpatient medical services; nearly half of family out-of-pocket spending is devoted to prescription medications. When children are transition age, a larger proportion of both overall and out-of-pocket expenditures go toward ambulatory therapy, while a smaller proportion of out-of-pocket expenditures are devoted to prescription medications compared to children of other ages. Transition age children from vulnerable families experience a drop in expenditures that families with more resources fill through out-of-pocket spending. Findings raise questions about the dimensions of care for children with autism. Schools may be better positioned than health insurance to foster continuity of care.
C1 [Thomas, Kathleen C.; Williams, Christianna S.] Univ N Carolina, Chapel Hill, NC 27515 USA.
[Parish, Susan L.] Brandeis Univ, Waltham, MA USA.
RP Thomas, KC (reprint author), Univ N Carolina, Chapel Hill, NC 27515 USA.
EM thomas@schsr.unc.edu
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NR 46
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1092-7875
EI 1573-6628
J9 MATERN CHILD HLTH J
JI Matern. Child Health J.
PD OCT
PY 2014
VL 18
IS 8
BP 1936
EP 1944
DI 10.1007/s10995-014-1439-6
PG 9
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AP6HW
UT WOS:000342179300018
PM 24553795
ER
PT J
AU Phillips, KL
Schieve, LA
Visser, S
Boulet, S
Sharma, AJ
Kogan, MD
Boyle, CA
Yeargin-Allsopp, M
AF Phillips, Keydra L.
Schieve, Laura A.
Visser, Susanna
Boulet, Sheree
Sharma, Andrea J.
Kogan, Michael D.
Boyle, Coleen A.
Yeargin-Allsopp, Marshalyn
TI Prevalence and Impact of Unhealthy Weight in a National Sample of US
Adolescents with Autism and Other Learning and Behavioral Disabilities
SO MATERNAL AND CHILD HEALTH JOURNAL
LA English
DT Article
DE Obesity; Overweight; Underweight; Developmental disability; Children;
Concurrent medical conditions; Autism
ID CHRONIC HEALTH CONDITIONS; BODY-MASS INDEX; CHILDHOOD OVERWEIGHT;
DEVELOPMENTAL-DISABILITIES; UNITED-STATES; CHILDREN; OBESITY; RISK;
ASTHMA; ADULTS
AB We estimated the prevalence of obesity, overweight, and underweight among US adolescents with and without autism and other learning and behavioral developmental disabilities (DDs) and assessed the health consequences of obesity among adolescents with DDs. From the 2008 to 2010 National Health Interview Survey, we selected 9,619 adolescents ages 12-17 years. Parent respondents reported weight, height, presence of DDs and health conditions. We calculated body mass index (BMI) and defined obesity, overweight, and underweight as a parts per thousand yen95th, a parts per thousand yen85th to < 95th, and < 5th percentiles, respectively, using established criteria. We created mutually-exclusive DD subgroups using the following order of precedence: autism; intellectual disability; attention-deficit-hyperactivity-disorder; learning disorder/other developmental delay. We compared BMI outcomes among adolescents in each DD group versus adolescents without DDs using multivariable logistic regression. Socio-demographic factors and birthweight were included as confounders. Estimates were weighted to reflect the US population. Both obesity and underweight prevalences were higher among adolescents with than without DDs [adjusted prevalence ratios (aPR) 1.5 (1.25-1.75) and 1.5 (1.01-2.20), respectively]. Obesity was elevated among adolescents with all DD types, and was highest among the autism subgroup [aPR 2.1 (1.44-3.16)]. Adolescents with either a DD or obesity had higher prevalences of common respiratory, gastrointestinal, dermatological and neurological conditions/symptoms than nonobese adolescents without DDs. Adolescents with both DDs and obesity had the highest estimates for most conditions. Obesity is high among adolescents with autism and other DDs and poses added chronic health risks. Obesity prevention and management approaches for this vulnerable population subgroup need further consideration.
C1 [Phillips, Keydra L.; Schieve, Laura A.; Visser, Susanna; Boulet, Sheree; Boyle, Coleen A.; Yeargin-Allsopp, Marshalyn] Ctr Dis Control & Prevent, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA 30333 USA.
[Sharma, Andrea J.] Ctr Dis Control & Prevent, Natl Ctr Chron Dis Prevent & Hlth Promot, Atlanta, GA 30333 USA.
[Kogan, Michael D.] Hlth Resources & Serv Adm, Maternal & Child Hlth Bur, Rockville, MD USA.
RP Schieve, LA (reprint author), Ctr Dis Control & Prevent, Natl Ctr Birth Defects & Dev Disabil, 1600 Clifton Rd,Mailstop E-86, Atlanta, GA 30333 USA.
EM lschieve@cdc.gov
CR Akinbami LJ, 2009, OBESITY, V17, P1574, DOI 10.1038/oby.2009.1
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NR 45
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1092-7875
EI 1573-6628
J9 MATERN CHILD HLTH J
JI Matern. Child Health J.
PD OCT
PY 2014
VL 18
IS 8
BP 1964
EP 1975
DI 10.1007/s10995-014-1442-y
PG 12
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AP6HW
UT WOS:000342179300021
PM 24553796
ER
PT J
AU Coe, BP
Witherspoon, K
Rosenfeld, JA
van Bon, BWM
Vulto-van Silfhout, AT
Bosco, P
Friend, KL
Baker, C
Buono, S
Vissers, LELM
Schuurs-Hoeijmakers, JH
Hoischen, A
Pfundt, R
Krumm, N
Carvill, GL
Li, D
Amaral, D
Brown, N
Lockhart, PJ
Scheffer, IE
Alberti, A
Shaw, M
Pettinato, R
Tervo, R
de Leeuw, N
Reijnders, MRF
Torchia, BS
Peeters, H
O'Roak, BJ
Fichera, M
Hehir-Kwa, JY
Shendure, J
Mefford, HC
Haan, E
Gecz, J
de Vries, BBA
Romano, C
Eichler, EE
AF Coe, Bradley P.
Witherspoon, Kali
Rosenfeld, Jill A.
van Bon, Bregje W. M.
Vulto-van Silfhout, Anneke T.
Bosco, Paolo
Friend, Kathryn L.
Baker, Carl
Buono, Serafino
Vissers, Lisenka E. L. M.
Schuurs-Hoeijmakers, Janneke H.
Hoischen, Alex
Pfundt, Rolph
Krumm, Nik
Carvill, Gemma L.
Li, Deana
Amaral, David
Brown, Natasha
Lockhart, Paul J.
Scheffer, Ingrid E.
Alberti, Antonino
Shaw, Marie
Pettinato, Rosa
Tervo, Raymond
de Leeuw, Nicole
Reijnders, Margot R. F.
Torchia, Beth S.
Peeters, Hilde
O'Roak, Brian J.
Fichera, Marco
Hehir-Kwa, Jayne Y.
Shendure, Jay
Mefford, Heather C.
Haan, Eric
Gecz, Jozef
de Vries, Bert B. A.
Romano, Corrado
Eichler, Evan E.
TI Refining analyses of copy number variation identifies specific genes
associated with developmental delay
SO NATURE GENETICS
LA English
DT Article
ID DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDER; SCHINZEL-GIEDION SYNDROME;
INTELLECTUAL DISABILITY; MICRODELETION SYNDROME; MENTAL-RETARDATION;
MOLECULAR CHARACTERIZATION; SEGMENTAL DUPLICATIONS;
CLINICAL-SIGNIFICANCE; DELETIONS
AB Copy number variants (CNVs) are associated with many neurocognitive disorders; however, these events are typically large, and the underlying causative genes are unclear. We created an expanded CNV morbidity map from 29,085 children with developmental delay in comparison to 19,584 healthy controls, identifying 70 significant CNVs. We resequenced 26 candidate genes in 4,716 additional cases with developmental delay or autism and 2,193 controls. An integrated analysis of CNV and single-nucleotide variant (SNV) data pinpointed 10 genes enriched for putative loss of function. Follow-up of a subset of affected individuals identified new clinical subtypes of pediatric disease and the genes responsible for disease-associated CNVs. These genetic changes include haploinsufficiency of SETBP1 associated with intellectual disability and loss of expressive language and truncations of ZMYND11 in individuals with autism, aggression and complex neuropsychiatric features. This combined CNV and SNV approach facilitates the rapid discovery of new syndromes and genes involved in neuropsychiatric disease despite extensive genetic heterogeneity.
C1 [Coe, Bradley P.; Witherspoon, Kali; Baker, Carl; Krumm, Nik; O'Roak, Brian J.; Shendure, Jay; Eichler, Evan E.] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA.
[Rosenfeld, Jill A.; Torchia, Beth S.] PerkinElmer Inc, Signature Genom Labs LLC, Spokane, WA USA.
[van Bon, Bregje W. M.; Vulto-van Silfhout, Anneke T.; Vissers, Lisenka E. L. M.; Schuurs-Hoeijmakers, Janneke H.; Hoischen, Alex; Pfundt, Rolph; de Leeuw, Nicole; Reijnders, Margot R. F.; Hehir-Kwa, Jayne Y.; de Vries, Bert B. A.] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.
[van Bon, Bregje W. M.; Friend, Kathryn L.; Shaw, Marie; Haan, Eric; Gecz, Jozef] SA Pathol, Adelaide, SA, Australia.
[Bosco, Paolo; Buono, Serafino; Alberti, Antonino; Pettinato, Rosa; Fichera, Marco; Romano, Corrado] Associaz Oasi Maria Santissima, IRCCS, Troina, Italy.
[Carvill, Gemma L.; Mefford, Heather C.] Univ Washington, Dept Pediat, Seattle, WA 98195 USA.
[Li, Deana; Amaral, David] Univ Calif Davis, MIND Inst, Autism Phenome Project, Sacramento, CA 95616 USA.
[Brown, Natasha; Lockhart, Paul J.] Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia.
[Brown, Natasha] Barwon Hlth, Barwon Child Hlth Unit, Geelong, Vic, Australia.
[Lockhart, Paul J.] Univ Melbourne, Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic, Australia.
[Scheffer, Ingrid E.] Univ Melbourne, Austin Hlth, Florey Inst, Melbourne, Vic, Australia.
[Scheffer, Ingrid E.] Royal Childrens Hosp, Melbourne, Vic, Australia.
[Tervo, Raymond] Mayo Clin, Div Dev & Behav Pediat, Rochester, MN USA.
[Peeters, Hilde] Katholieke Univ Leuven, Univ Hosp Leuven, Ctr Human Genet, Leuven, Belgium.
[Peeters, Hilde] Leuven Autism Res LAuRes, Leuven, Belgium.
[Haan, Eric] Univ Adelaide, Sch Paediat & Reprod Hlth, Adelaide, SA, Australia.
[Gecz, Jozef] Univ Adelaide, Robinson Inst, Adelaide, SA, Australia.
[Eichler, Evan E.] Howard Hughes Med Inst, Seattle, WA USA.
RP Eichler, EE (reprint author), Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA.
EM eee@gs.washington.edu
RI Lockhart, Paul/E-7753-2011; Romano, Corrado/B-9695-2008; Vissers,
Lisenka/A-2598-2015; Scheffer, Ingrid/G-1668-2013
OI Lockhart, Paul/0000-0003-2531-8413; Romano, Corrado/0000-0003-1049-0683;
Scheffer, Ingrid/0000-0002-2311-2174
FU Canadian Institutes of Health Research; US National Institute of Mental
Health [MH101221]; Paul G. Allen Family Foundation Award [11631]
FX We thank E Hormozdiari, M. Dennis and T. Brown for useful discussions
and for editing the manuscript. B.P.C. is supported by a fellowship from
the Canadian Institutes of Health Research. This study makes use of data
generated by the Wellcome Trust Case Control Consortium. A full list of
the investigators who contributed to the generation of the data is
available from http://www.wtccc.org.uk/. JAR. and B.S.T. are employees
of Signature Genomics Laboratories, LLC, a subsidiary of PerkinElmer,
Inc. This work was supported by US National Institute of Mental Health
grant MH101221 and Paul G. Allen Family Foundation Award 11631 to E.E.E.
E.E.E. is an Allen Distinguished Investigator and an investigator of the
Howard Hughes Medical Institute.
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NR 56
TC 7
Z9 8
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1061-4036
EI 1546-1718
J9 NAT GENET
JI Nature Genet.
PD OCT
PY 2014
VL 46
IS 10
BP 1063
EP 1071
DI 10.1038/ng.3092
PG 9
WC Genetics & Heredity
SC Genetics & Heredity
GA AQ1PU
UT WOS:000342554100008
PM 25217958
ER
PT J
AU Vanderwerker, L
Akincigil, A
Olfson, M
Gerhard, T
Neese-Todd, S
Crystal, S
AF Vanderwerker, Lauren
Akincigil, Ayse
Olfson, Mark
Gerhard, Tobias
Neese-Todd, Sheree
Crystal, Stephen
TI Foster Care, Externalizing Disorders, and Antipsychotic Use Among
Medicaid-Enrolled Youths
SO PSYCHIATRIC SERVICES
LA English
DT Article
ID MENTAL-HEALTH-SERVICES; CHILD-WELFARE; MEDICATIONS
AB Objectives: The authors investigated the extent to which clinical diagnoses of externalizing disorders explain higher rates of antipsychotic use by foster care youths. Methods: Medicaid claims data from 44 states for 2009 for youths in foster care (N=301,894) and those not in foster care (N=5,092,574) were analyzed, excluding those with schizophrenia, bipolar disorder, autism, and major depressive disorder. Logistic regressions assessed the relationship between foster care, externalizing disorders, and antipsychotic use. Results: Foster care youths had higher rates of externalizing disorders than the comparison group (attention-deficit hyperactivity disorder, 17.3% versus 6.5%; disruptive behavior disorder, 7.2% versus 2.5%; conduct disorder, 2.3% versus .5%) and greater antipsychotic use (7.4% versus 1.4%). Foster care remained a significant predictor of antipsychotic use after control for demographic and diagnostic covariates, including externalizing disorders (adjusted odds ratio=2.59, 95% confidence interval=2.54-2.63). Conclusions: High rates of externalizing disorder diagnoses only partially explained elevated levels of antipsychotic use in this vulnerable population.
C1 [Vanderwerker, Lauren] Rutgers State Univ, Ctr Hlth Serv Res Pharmacotherapy Chron Dis Manag, Inst Hlth Hlth Care Policy & Aging Res, New Brunswick, NJ 08903 USA.
[Akincigil, Ayse; Gerhard, Tobias; Neese-Todd, Sheree; Crystal, Stephen] Rutgers State Univ, New Brunswick, NJ 08903 USA.
[Akincigil, Ayse; Crystal, Stephen] Rutgers State Univ, Sch Social Work, New Brunswick, NJ 08903 USA.
[Gerhard, Tobias] Rutgers State Univ, Ernest Mario Sch Pharm, New Brunswick, NJ 08903 USA.
[Olfson, Mark] Columbia Univ, Coll Phys & Surg, New York State Psychiat Inst, New York, NY USA.
[Olfson, Mark] Columbia Univ, Coll Phys & Surg, Dept Psychiat, New York, NY USA.
RP Vanderwerker, L (reprint author), Univ Maryland Baltimore Cty, Hilltop Inst, Baltimore, MD 21228 USA.
EM lvanclerwerker@hilltop.umbc.edu
FU Agency for Healthcare Research and Quality [U19-HS-021112, HS017918,
R18HS019937]; Mental Health Services and Systems Training Program grant
from the National Institute of Mental Health [MH-16242]; New York State
Psychiatric Institute
FX This study was supported by awards U19-HS-021112, HS017918 and
R18HS019937 from the Agency for Healthcare Research and Quality, by
Mental Health Services and Systems Training Program grant MH-16242 from
the National Institute of Mental Health, and by the New York State
Psychiatric Institute.
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NR 15
TC 0
Z9 0
PU AMER PSYCHIATRIC PUBLISHING, INC
PI ARLINGTON
PA 1000 WILSON BOULEVARD, STE 1825, ARLINGTON, VA 22209-3901 USA
SN 1075-2730
EI 1557-9700
J9 PSYCHIAT SERV
JI Psychiatr. Serv.
PD OCT
PY 2014
VL 65
IS 10
BP 1281
EP 1284
DI 10.1176/appi.ps.201300455
PG 4
WC Health Policy & Services; Public, Environmental & Occupational Health;
Psychiatry
SC Health Care Sciences & Services; Public, Environmental & Occupational
Health; Psychiatry
GA AQ0MK
UT WOS:000342477200019
PM 25124057
ER
PT J
AU Frith, U
AF Frith, Uta
TI Autism - are we any closer to explaining the enigma?
SO PSYCHOLOGIST
LA English
DT Article
AB Autism is a developmental disorder characterised by impairments in social interaction and both verbal and non-verbal communication, along with restricted, repetitive or stereotyped behaviour. Following more than a quarter of a century of extensive research from psychologists, are we any closer to explaining the enigma? Has stretching The diagnostic boundaries helped or hindered scientific and practical progress?
A critical step in 'solving the puzzle' of autism is to consider the myths and realities surrounding autism, both for those living with it and their relatives. This issue gathers a variety of perspectives from those people and from leading researchers in the field.
C1 UCL, London WC1E 6BT, England.
RP Frith, U (reprint author), UCL, London WC1E 6BT, England.
EM u.frith@ucl.ac.uk
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 OCT
PY 2014
VL 27
IS 10
BP 744
EP 745
PG 2
WC Psychology, Multidisciplinary
SC Psychology
GA AP8OG
UT WOS:000342337700036
ER
PT J
AU Jarrett, C
AF Jarrett, Christian
TI Autism - myth and reality
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LA English
DT Article
ID DISORDER
EM christianjarrett@gmail.com
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PA ST ANDREWS HOUSE, 48 PRINCESS RD EAST, LEICESTER LE1 7DR, LEICS, ENGLAND
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J9 PSYCHOLOGIST
JI Psychologist
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BP 746
EP 749
PG 4
WC Psychology, Multidisciplinary
SC Psychology
GA AP8OG
UT WOS:000342337700037
ER
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AF Brock, Jon
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LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; SCHIZOPHRENIA; PELLICANO; PRIORS; BURR
C1 Macquarie Univ, ARC Ctr Excellence Cognit & Its Disorders, N Ryde, NSW 2109, Australia.
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NR 20
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 OCT
PY 2014
VL 27
IS 10
BP 750
EP 753
PG 4
WC Psychology, Multidisciplinary
SC Psychology
GA AP8OG
UT WOS:000342337700038
ER
PT J
AU Elsabbagh, M
AF Elsabbagh, Mayada
TI Risk and resilience in the developing brain
SO PSYCHOLOGIST
LA English
DT Article
ID AUTISM SPECTRUM DISORDER; INFANTS AT-RISK; PHENOTYPE; CHILDREN;
DIFFICULTIES; SIBLINGS; GAZE
C1 McGill Univ, Montreal, PQ H3A 2T5, Canada.
RP Elsabbagh, M (reprint author), McGill Univ, Montreal, PQ H3A 2T5, Canada.
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NR 26
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 OCT
PY 2014
VL 27
IS 10
BP 754
EP 757
PG 4
WC Psychology, Multidisciplinary
SC Psychology
GA AP8OG
UT WOS:000342337700039
ER
PT J
AU Cage, E
AF Cage, Eilidh
TI What is autism, anyway?
SO PSYCHOLOGIST
LA English
DT Editorial Material
ID REPUTATION MANAGEMENT; FRIENDSHIP; CHILDREN
C1 Univ London, Inst Educ, CRAE, London WC1E 7HU, England.
RP Cage, E (reprint author), Univ London, Inst Educ, CRAE, London WC1E 7HU, England.
EM e.cage@ioe.ac.uk
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NR 12
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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 OCT
PY 2014
VL 27
IS 10
BP 760
EP 761
PG 2
WC Psychology, Multidisciplinary
SC Psychology
GA AP8OG
UT WOS:000342337700040
ER
PT J
AU Sutton, J
Happe, F
AF Sutton, Jon
Happe, Francesca
TI A creative, interpersonal, social scientist
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ID DISORDERS; AUTISM
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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 OCT
PY 2014
VL 27
IS 10
BP 762
EP 765
PG 4
WC Psychology, Multidisciplinary
SC Psychology
GA AP8OG
UT WOS:000342337700041
ER
PT J
AU Draaisma, D
AF Draaisma, Douwe
TI Generic images of autism
SO PSYCHOLOGIST
LA English
DT Editorial Material
C1 Univ Groningen, NL-9700 AB Groningen, Netherlands.
RP Draaisma, D (reprint author), Univ Groningen, NL-9700 AB Groningen, Netherlands.
EM d.draaisma@rug.nl
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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 OCT
PY 2014
VL 27
IS 10
BP 768
EP 769
PG 2
WC Psychology, Multidisciplinary
SC Psychology
GA AP8OG
UT WOS:000342337700043
ER
PT J
AU Howlin, P
AF Howlin, Patricia
TI A continuing journey
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LA English
DT Editorial Material
ID AUTISM SPECTRUM DISORDERS; INFANTILE-AUTISM; CHILDREN; INTERVENTIONS
C1 Inst Psychiat, London, England.
RP Howlin, P (reprint author), Inst Psychiat, London, England.
EM patricia.howlin@kcl.ac.uk
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NR 23
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 OCT
PY 2014
VL 27
IS 10
BP 796
EP 798
PG 3
WC Psychology, Multidisciplinary
SC Psychology
GA AP8OG
UT WOS:000342337700045
ER
PT J
AU Guida, N
Laudati, G
Galgani, M
Santopaolo, M
Montuori, P
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Di Renzo, G
Canzoniero, LMT
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AF Guida, Natascia
Laudati, Giusy
Galgani, Mario
Santopaolo, Marianna
Montuori, Paolo
Triassi, Maria
Di Renzo, Gianfranco
Canzoniero, Lorella M. T.
Formisano, Luigi
TI Histone deacetylase 4 promotes ubiquitin-dependent proteasomal
degradation of Sp3 in SH-SY5Y cells treated with di(2-ethylhexyl)
phthalate (DEHP), determining neuronal death
SO TOXICOLOGY AND APPLIED PHARMACOLOGY
LA English
DT Article
DE DEHP; HDAC4; MC-1568; Ubiquitination; Acetylation
ID BLOOD-BRAIN-BARRIER; AUTISM SPECTRUM DISORDERS; TRANSCRIPTION FACTORS;
(DEHP)-INDUCED APOPTOSIS; NEUROBLASTOMA-CELLS; CEREBRAL-ISCHEMIA;
NEURO-2A CELLS; SP-FAMILY; EXPRESSION; ACTIVATION
AB Phthalates, phthalic acid esters, are widely used as plasticizers to produce polymeric materials in industrial production of plastics and daily consumable products. Animal studies have shown that di(2-ethylhexyl)phthalate (DEHP) may cause toxic effects in the rat brain. In the present study, chronic exposure to DEHP (0.1-100 mu M) caused dose-dependent cell death via the activation of caspase-3 in neuroblastoma cells. Intriguingly, this harmful effect was prevented by the pan-histone deacetylase (HDAC) inhibitor trichostatin A, by the class II HDAC inhibitor MC-1568, but not by the class I HDAC inhibitor MS-275. Furthermore, DEHP reduced specificity protein 3 (Sp3) gene expression, but not Sp3 mRNA, after 24 and 48 h exposures. However, Sp3 protein reduction was prevented by pre-treatment with MC-1568, suggesting the involvement of class II HDACs in causing this effect. Then, we investigated the possible relationship between DEHP-induced neuronal death and the post-translational mechanisms responsible for the down-regulation of Sp3. Interestingly, DEHP-induced Sp3 reduction was associated to its deacetylation and polyubiquitination. Co-immunoprecipitation studies showed that Sp3 physically interacted with HDAC4 after DEHP exposure, while HDAC4 inhibition by antisense oligodeoxynucleotide reverted the DEHP-induced degradation of Sp3. Notably, Sp3 overexpression was able to counteract the detrimental effect induced by DEHP. Taken together, these results suggest that DEHP exerts its toxic effect by inducing deacetylation of Sp3 via HDAC4, and afterwards, Sp3-polyubiquitination. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Guida, Natascia; Laudati, Giusy; Di Renzo, Gianfranco; Canzoniero, Lorella M. T.; Formisano, Luigi] Univ Naples Federico II, Div Pharmacol, Dept Neurosci Reprod & Odontostomatol Sci, Sch Med, I-80131 Naples, Italy.
[Galgani, Mario; Santopaolo, Marianna] CNR, Ist Endocrinol & Oncol Sperimentale, Immunol Lab, I-80125 Naples, Italy.
[Montuori, Paolo; Triassi, Maria] Univ Naples Federico II, Dept Prevent Med Sci, I-80131 Naples, Italy.
[Canzoniero, Lorella M. T.; Formisano, Luigi] Univ Sannio, Div Pharmacol, Dept Sci & Technol, I-82100 Benevento, Italy.
RP Canzoniero, LMT (reprint author), Univ Sannio, Div Pharmacol, Dept Sci & Technol, Via PortArsa 11, I-82100 Benevento, Italy.
EM canzon@unisannio.it; cformisa@unisannio.it
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NR 44
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 0041-008X
EI 1096-0333
J9 TOXICOL APPL PHARM
JI Toxicol. Appl. Pharmacol.
PD OCT 1
PY 2014
VL 280
IS 1
BP 190
EP 198
DI 10.1016/j.taap.2014.07.014
PG 9
WC Pharmacology & Pharmacy; Toxicology
SC Pharmacology & Pharmacy; Toxicology
GA AQ1GZ
UT WOS:000342531200021
PM 25068794
ER
PT J
AU Deepmala
Agrawal, M
AF Deepmala
Agrawal, Mayank
TI Use of Propranolol for Hypersexual Behavior in an Adolescent With Autism
SO ANNALS OF PHARMACOTHERAPY
LA English
DT Article
DE propranolol; hypersexual behaviors; adolescent; autism
ID NEUROLEPTIC-INDUCED AKATHISIA; PHARMACOLOGICAL-TREATMENT;
SEXUAL-BEHAVIOR; MIRTAZAPINE; DISORDER; MEDROXYPROGESTERONE;
MASTURBATION; OFFENDERS; DEMENTIA
AB Objective: To report a case of an adolescent with autism with clinically significant hypersexual behaviors in whom a trial of low-dose propranolol led to major clinical improvement. Case Summary: This case report describes a 13-year-old boy with a history of autism who presented to the outpatient psychiatric clinic for hypersexual behaviors that started at the onset of puberty. The behaviors affected his functioning both at school and home. A trial of low-dose propranolol, 0.3 mg/ kg/d (10 mg twice a day), targeting hypersexual behavior led to remarkable clinical improvement. The behaviors remained stable on this dose of propranolol for 1 year. Discussion: Hypersexual behavior exhibited by adolescent patients with autism can be a big challenge to manage. The literature on pharmacological options to manage these behaviors in children and adolescents with autism is limited. Clinical data of propranolol use are novel. Conclusion: To our knowledge, this is the first case report of low-dose propranolol leading to clinically significant improvement in hypersexual behaviors in an adolescent with autism. Propranolol use may expand the choice of treatment option in this patient population.
C1 [Deepmala; Agrawal, Mayank] Univ Arkansas Med Sci, Little Rock, AR 72202 USA.
RP Deepmala (reprint author), Univ Arkansas Med Sci, Child & Adolescent Psychiat Div, Dept Psychiat, 11 Childrens Way Slot 654, Little Rock, AR 72202 USA.
EM ddeepmala@uams.edu
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NR 32
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1060-0280
EI 1542-6270
J9 ANN PHARMACOTHER
JI Ann. Pharmacother.
PD OCT
PY 2014
VL 48
IS 10
BP 1385
EP 1388
DI 10.1177/1060028014S41630
PG 4
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AP2ZX
UT WOS:000341945800018
PM 24965689
ER
PT J
AU Xie, J
Du, ZM
Callahan, B
Belfort, M
Wang, CY
AF Xie, Jian
Du, Zhenming
Callahan, Brian
Belfort, Marlene
Wang, Chunyu
TI H-1, C-13, and N-15 NMR assignments of a Drosophila Hedgehog
autoprocessing domain
SO BIOMOLECULAR NMR ASSIGNMENTS
LA English
DT Article
DE Assignments; Autoprocessing; Drosophila; Hedgehog; NMR
ID PROTEIN; MECHANISM; INTEIN
AB The Hedgehog (Hh) signaling pathway plays important roles in embryonic growth and patterning in different organisms. Abnormal activity of the Hh signaling pathway has been associated to cancers, holoprosencephaly and autism spectrum disorders. The backbone and side chain resonance assignments of a Drosophila Hh autoprocessing domain have been determined based on triple-resonance experiments with the [C-13, N-15]-labeled and [H-2, C-13, N-15])-labeled proteins.
C1 [Xie, Jian; Du, Zhenming; Wang, Chunyu] Rensselaer Polytech Inst, Biochem & Biophys Grad Program, Ctr Biotechnol & Interdisciplinary Studies, Troy, NY 12180 USA.
[Callahan, Brian] SUNY Binghamton, Dept Chem, Binghamton, NY 13902 USA.
[Belfort, Marlene] SUNY Albany, Dept Biol Sci, Albany, NY 12222 USA.
RP Wang, CY (reprint author), Rensselaer Polytech Inst, Biochem & Biophys Grad Program, Ctr Biotechnol & Interdisciplinary Studies, Troy, NY 12180 USA.
EM wangc5@rpi.edu
FU National Institute of General Medical Sciences [R01GM081408, R01GM44844]
FX The project described was supported by R01GM081408 (to C. W.) and
R01GM44844 (to M. B.) from the National Institute of General Medical
Sciences.
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NR 10
TC 2
Z9 2
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 1874-2718
EI 1874-270X
J9 BIOMOL NMR ASSIGN
JI Biomol. NMR Assign.
PD OCT
PY 2014
VL 8
IS 2
BP 279
EP 281
DI 10.1007/s12104-013-9500-8
PG 3
WC Biophysics; Spectroscopy
SC Biophysics; Spectroscopy
GA AP4WR
UT WOS:000342080900013
PM 23765287
ER
PT J
AU O'Hearn, K
Tanaka, J
Lynn, A
Fedor, J
Minshew, N
Luna, B
AF O'Hearn, Kirsten
Tanaka, James
Lynn, Andrew
Fedor, Jennifer
Minshew, Nancy
Luna, Beatriz
TI Developmental plateau in visual object processing from adolescence to
adulthood in autism
SO BRAIN AND COGNITION
LA English
DT Article
DE ASD; Developmental disorders; Face; Holistic; Recognition; Eyes
ID FUSIFORM FACE AREA; SPECTRUM DISORDERS; RECOGNITION MEMORY; SKILLS
BATTERY; INDIVIDUALS; PERCEPTION; TRAJECTORIES; CHILDREN; CORTEX;
IMPAIRMENT
AB A lack of typical age-related improvement from adolescence to adulthood contributes to face recognition deficits in adults with autism on the Cambridge Face Memory Test (CFMT). The current studies examine if this atypical developmental trajectory generalizes to other tasks and objects, including parts of the face. The CFMT tests recognition of whole faces, often with a substantial delay. The current studies used the immediate memory (IM) task and the parts-whole face task from the Let's Face It! battery, which examines whole faces, face parts, and cars, without a delay between memorization and test trials. In the IM task, participants memorize a face or car. Immediately after the target disappears, participants identify the target from two similar distractors. In the part-whole task, participants memorize a whole face. Immediately after the face disappears, participants identify the target from a distractor with different eyes or mouth, either as a face part or a whole face.
Results indicate that recognition deficits in autism become more robust by adulthood, consistent with previous work, and also become more general, including cars. In the IM task, deficits in autism were specific to faces in childhood, but included cars by adulthood. In the part-whole task, deficits in autism became more robust by adulthood, including both eyes and mouths as parts and in whole faces. Across tasks, the deficit in autism increased between adolescence and adulthood, reflecting a lack of typical improvement, leading to deficits with non-face stimuli and on a task without a memory delay. These results suggest that brain maturation continues to be affected into adulthood in autism, and that the transition from adolescence to adulthood is a vulnerable stage for those with autism. (C) 2014 Published by Elsevier Inc.
C1 [O'Hearn, Kirsten; Lynn, Andrew; Fedor, Jennifer; Minshew, Nancy; Luna, Beatriz] Univ Pittsburgh, Dept Psychiat, Lab Neurocognit Dev, Pittsburgh, PA 15213 USA.
[Tanaka, James] Univ Victoria, Dept Psychol, Victoria, BC V8W 2Y2, Canada.
[Minshew, Nancy] Univ Pittsburgh, Dept Neurol, Pittsburgh, PA 15213 USA.
RP O'Hearn, K (reprint author), Univ Pittsburgh, Med Ctr, Lab Neurocognit Dev, 121 Meyran Ave,112 Loeffler Bldg, Pittsburgh, PA 15213 USA.
EM ohearnk@upmc.edu
FU Autism Speaks Grant [04593]; NIMH [5 R01 MH067924, K01 MH081191]; NIH
from Eunice Kennedy Shriver National Institute of Child Health & Human
Development [HD055748]; NICHD ACE [HD055648]; CPEA [HD35469]
FX This work was completed at the University of Pittsburgh and supported by
Autism Speaks Grant 04593 (PI Luna), NIMH 5 R01 MH067924 (PI Luna), NIH
HD055748 (PI Minshew) from the Eunice Kennedy Shriver National Institute
of Child Health & Human Development, and NIMH K01 MH081191 (PI O'Hearn).
The content is solely the responsibility of the authors and does not
necessarily represent the official views of the National Institutes of
Health. Recruitment was supported by NICHD ACE grant HD055648 and CPEA
grant HD35469. We thank Catherine Wright, the participants and their
families, and the staff at the Autism Center of Excellence for their
generous help. Preliminary analysis was presented at The International
Meeting for Autism Research in Toronto ON in May, 2012.
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NR 66
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 0278-2626
EI 1090-2147
J9 BRAIN COGNITION
JI Brain Cogn.
PD OCT
PY 2014
VL 90
BP 124
EP 134
DI 10.1016/j.bandc.2014.06.004
PG 11
WC Neurosciences; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AP6LF
UT WOS:000342188600015
PM 25019999
ER
PT J
AU Dubischar-Krivec, AM
Bolte, S
Braun, C
Poustka, F
Birbaumer, N
Neumann, N
AF Dubischar-Krivec, Anna Milena
Bolte, Sven
Braun, Christoph
Poustka, Fritz
Birbaumer, Niels
Neumann, Nicola
TI Neural mechanisms of savant calendar calculating in autism: An MEG-study
of few single cases
SO BRAIN AND COGNITION
LA English
DT Article
DE Autism; Calendar calculation; Magnetoencephalography; Savant syndrome
ID CALENDRICAL CALCULATORS; IDIOT-SAVANT; WORKING-MEMORY; BRAIN;
MULTIPLICATION; PERCEPTION; ATTENTION; SUBJECT; NUMBERS; TALENT
AB This study contrasted the neurological correlates of calendar calculating (CC) between those individuals with autism spectrum disorder (ASD) and typically developing individuals. CC is the ability to correctly and quickly state the day of the week of a given date. Using magnetoencephalography (MEG), we presented 126 calendar tasks with dates of the present, past, and future. Event-related magnetic fields (ERF) of 3000 ms duration and brain activation patterns were compared in three savant calendar calculators with ASD (ASDCC) and three typically developing calendar calculators (TYPCC). ASDCC outperformed TYPCC in correct responses, but not in answering speed. Comparing amplitudes of their ERFs, there was a main effect of group between 1000 and 3000 ms, but no further effects of hemisphere or sensor location. We conducted CLARA source analysis across the entire CC period in each individual. Both ASDCC and TYPCC exhibited activation maxima in prefrontal areas including the insulae and the left superior temporal gyrus. This is in accordance with verbal fact retrieval and working memory as well as monitoring and coordination processes. In ASDCC, additional activation sites at the right superior occipital gyrus, the right precuneus, and the right putamen point to visual-spatial strategies and are in line with the preference of autistic individuals for engaging posterior regions relatively more strongly in various reasoning and problem solving tasks. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Dubischar-Krivec, Anna Milena; Birbaumer, Niels; Neumann, Nicola] Univ Tubingen, Inst Med Psychol & Behav Neurobiol, D-72076 Tubingen, Germany.
[Bolte, Sven] Karolinska Inst, Ctr Neurodev Disorders KIND, Dept Womens & Childrens Hlth, S-17177 Stockholm, Sweden.
[Braun, Christoph] Univ Tubingen, MEG Ctr, D-72076 Tubingen, Germany.
[Poustka, Fritz] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat & Psychotherapy, D-60528 Frankfurt, Germany.
[Birbaumer, Niels] Osped San Camillo, IRCCS, I-30126 Venice, Italy.
[Neumann, Nicola] Ernst Moritz Arndt Univ Greifswald, Funct Imaging Unit, Ctr Diagnost Radiol & Neuroradiol, D-17475 Greifswald, Germany.
RP Neumann, N (reprint author), Ernst Moritz Arndt Univ Greifswald, Funct Imaging Unit, Ctr Diagnost Radiol & Neuroradiol, Walther Rathenau Str 46, D-17475 Greifswald, Germany.
EM nicola.neumann@uni-greifswald.de
FU Graduate Research Training Program on Cognitive Neurobiology of the
Deutsche Forschungsgemeinschaft at the University of Tubingen;
University and Science Program of the Federal State of
Baden-Wurttemberg; Kathe Kluth Program of the University of Greifswald
FX The authors thank all participants for their participation in this
study. All authors disclose any sources of conflict of interest. This
work was supported by the Graduate Research Training Program on
Cognitive Neurobiology of the Deutsche Forschungsgemeinschaft at the
University of Tubingen, the University and Science Program of the
Federal State of Baden-Wurttemberg, and the Kathe Kluth Program of the
University of Greifswald.
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NR 59
TC 1
Z9 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0278-2626
EI 1090-2147
J9 BRAIN COGNITION
JI Brain Cogn.
PD OCT
PY 2014
VL 90
BP 157
EP 164
DI 10.1016/j.bandc.2014.07.003
PG 8
WC Neurosciences; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AP6LF
UT WOS:000342188600019
PM 25108822
ER
PT J
AU Mito, H
Matsuura, N
Mukai, K
Yanagisawa, Y
Nakajima, A
Motoyama, M
Arikawa, A
Yamanishi, K
Matsunaga, H
AF Mito, Hironori
Matsuura, Naomi
Mukai, Keiitiro
Yanagisawa, Yoshinobu
Nakajima, Akihiro
Motoyama, Mikuni
Arikawa, Ayako
Yamanishi, Kyosuke
Matsunaga, Hisato
TI The impacts of elevated autism spectrum disorder traits on clinical and
psychosocial features and long-term treatment outcome in adult patients
with obsessive-compulsive disorder
SO COMPREHENSIVE PSYCHIATRY
LA English
DT Article
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; REPETITIVE BEHAVIORS;
ANXIETY SYMPTOMS; QUOTIENT AQ; CHILDREN; COMORBIDITY; SCALE;
ADOLESCENTS; DEPRESSION
AB Background: While a close relation between obsessive-compulsive disorder (OCD) and autism spectrum disorder (ASD) has been pointed out, there are few studies that have investigated whether highly elevated ASD traits may have significant impacts on clinical and psychosocial features as well as long-term treatment outcome in adult OCD patients.
Methods: We assessed ASD traits using the Autism Spectrum Quotient (AQ) in 81 Japanese patients with OCD. The relation between degree of ASD traits and clinical and psychosocial variables and the 48-week treatment outcomes was analyzed in the subjects.
Results: A substantial proportion of the subjects showed higher ASD traits (35%) with more severe depressive or pervasive anxiety status, and social impairments and lower QOL compared to other OCD individuals. However, elevated ASD traits may exert rather smaller impact on the OCD phenomenology along with on the long-term treatment outcome than expected.
Conclusions: Elevated ASD traits may further emphasize the general psychopathological and socio-dysfunctional features rather than clinical aspects associated with OCD. Co-existing depressive or anxious symptom severity may further exacerbate the core-deficits related to ASD pathology. Thus the assessment of ASD traits should be important for understanding the clinical and psychosocial features and treatment responses in OCD patients. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Mito, Hironori; Mukai, Keiitiro; Yanagisawa, Yoshinobu; Nakajima, Akihiro; Motoyama, Mikuni; Arikawa, Ayako; Yamanishi, Kyosuke; Matsunaga, Hisato] Hyogo Coll Med, Dept Neuropsychiat, Nishinomiya, Hyogo 6638501, Japan.
[Mito, Hironori] Zinmeikai Hosp, Nishinomiya, Hyogo, Japan.
[Matsuura, Naomi] Tokyo Univ Social Welf, Grad Sch Educ, Toshima, Aichi, Japan.
RP Matsunaga, H (reprint author), Hyogo Coll Med, Dept Neuropsychiat, Mukogawa Cho, Nishinomiya, Hyogo 6638501, Japan.
EM hisa1311@hyo-med.ac.jp
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NR 47
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 0010-440X
EI 1532-8384
J9 COMPR PSYCHIAT
JI Compr. Psychiat.
PD OCT
PY 2014
VL 55
IS 7
BP 1526
EP 1533
DI 10.1016/j.comppsych.2014.05.005
PG 8
WC Psychiatry
SC Psychiatry
GA AP5LX
UT WOS:000342121800008
PM 24957957
ER
PT J
AU Hoekstra, PJ
AF Hoekstra, Pieter J.
TI Risperidone for non-psychotic disorders in paediatric patients: which
child is to benefit?
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Editorial Material
ID INDUCED WEIGHT-GAIN; ADOLESCENTS; AUTISM; ANTIPSYCHOTICS; GENE
AB This commentary is on the original article by Youngster etal. on pages of this issue.
C1 Univ Groningen, Univ Med Ctr Groningen, Dept Psychiat, Groningen, Netherlands.
RP Hoekstra, PJ (reprint author), Univ Groningen, Univ Med Ctr Groningen, Dept Psychiat, Groningen, Netherlands.
RI Hoekstra, Pieter/O-4396-2014
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NR 8
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0012-1622
EI 1469-8749
J9 DEV MED CHILD NEUROL
JI Dev. Med. Child Neurol.
PD OCT
PY 2014
VL 56
IS 10
BP 919
EP 920
DI 10.1111/dmcn.12527
PG 2
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AP5PM
UT WOS:000342131100005
PM 25041348
ER
PT J
AU Bolte, S
AF Bolte, Sven
TI Is autism curable?
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Review
ID SPECTRUM DISORDERS; CHILDHOOD; CHILDREN
AB Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder of multifactorial origin. Today, ASD is generally not curable, although it is treatable to a varying degree to prevent worse outcomes. Some reports indicate the possibility of major improvements or even recovery in ASD. However, these studies are based on scientific shortcomings, and the lack of a clear definition of cure' in ASD further compromises interpretation of research findings. The development of animal models and decreasing costs of genome sequencing provide new options for treatment research and individualized medicine in ASD. This article briefly reviews several issues related to the question whether there is recovery from ASD, starting with a short overview of the presumed aetiologies.
C1 [Bolte, Sven] Karolinska Inst, Pediat Neuropsychiat Unit, Dept Womens & Childrens Hlth, Ctr Neurodev Disorders KIND, S-11330 Stockholm, Sweden.
[Bolte, Sven] Stockholm Cty Council, Div Child & Adolescent Psychiat, Stockholm, Sweden.
RP Bolte, S (reprint author), Karolinska Inst, Pediat Neuropsychiat Unit, Dept Womens & Childrens Hlth, Ctr Neurodev Disorders KIND,CAP Res Ctr, Gavlegatan 22, S-11330 Stockholm, Sweden.
EM sven.bolte@ki.se
FU Swedish Research Council [523-2009-7054]; FAS (FORTE); FORMAS; VINNOVA
[259-2012-24]; Innovative Medicines Initiative [115300]; European Union;
EFPIA
FX The author is supported by the Swedish Research Council (grant no.
523-2009-7054), the Swedish Research Council in partnership with FAS
(FORTE), FORMAS, and VINNOVA (cross-disciplinary research concerning
children's and adolescent's mental health, grant nr. 259-2012-24), and
the Innovative Medicines Initiative Joint Undertaking under grant
agreement number 115300, resources of which are composed of financial
contribution from the European Union's Seventh Framework Programme
(FP7/2007 - 2013) and EFPIA companies' in-kind contribution.
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Silverman JL, 2014, DRUG DISCOV TODAY, V19, P838, DOI 10.1016/j.drudis.2013.12.007
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NR 31
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0012-1622
EI 1469-8749
J9 DEV MED CHILD NEUROL
JI Dev. Med. Child Neurol.
PD OCT
PY 2014
VL 56
IS 10
BP 927
EP 931
DI 10.1111/dmcn.12495
PG 5
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AP5PM
UT WOS:000342131100011
PM 24840630
ER
PT J
AU Youngster, I
Zachor, DA
Gabis, LV
Bar-Chaim, A
Benveniste-Levkovitz, P
Britzi, M
Soback, S
Ziv-Baran, T
Berkovitch, M
AF Youngster, Ilan
Zachor, Ditza A.
Gabis, Lidia V.
Bar-Chaim, Adina
Benveniste-Levkovitz, Patricia
Britzi, Malka
Soback, Stefan
Ziv-Baran, Tomer
Berkovitch, Matitiahu
TI CYP2D6 genotyping in paediatric patients with autism treated with
risperidone: a preliminary cohort study
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Article
ID CYTOCHROME-P450 2D6 CYP2D6; BEHAVIORAL SYMPTOMS; SPECTRUM DISORDERS;
CHILDREN; PLASMA; 9-HYDROXYRISPERIDONE; SCHIZOPHRENIA; MEDICATIONS;
ADOLESCENTS
AB AimTo evaluate the association between cytochrome P450 2D6 (CYP2D6) phenotypes in paediatric patients with autistic spectrum disorders (ASD) treated with risperidone, adverse drug reactions (ADRs), and drug efficacy.
MethodAn observational cohort study of 40 children (34 males, six females; median age 7y range 3-18y) with autistic disorder, pervasive developmental disorder not otherwise specified, or Asperger syndrome diagnosed using the Autism Diagnostic Interview-Revised and treated with risperidone for at least 3months. Charts were reviewed for demographic and clinical information, response to treatment was assessed by parents and the treating neurologist on a three-point scale, and information about ADRs was collected. Trough plasma levels of risperidone and its metabolites were determined and CYP2D6 genotyping was performed.
ResultsTwenty-six patients responded to therapy and 11 patients exhibited ADRs. CYP2D6 genotyping showed two patients to be poor metabolizers, two ultra-rapid metabolizers, seven intermediate metabolizers, and 29 extensive metabolizers. Both ultra-rapid metabolizer patients were non-responders and had no ADRs. In contrast, both poor metabolizer patients were responders but experienced ADRs. No correlation was found between risperidone dosage and either risperidone or drug metabolite plasma levels. There was no difference in risperidone or metabolite plasma levels when comparing responders to non-responders, or when comparing patients with or without ADRs.
InterpretationIn patients with ASD treated with risperidone, a CYP2D6 phenotype may be associated with response to treatment and development of ADRs.
C1 [Youngster, Ilan; Berkovitch, Matitiahu] Assaf Harofeh Med Ctr, Clin Pharmacol Unit, IL-70300 Zerifin, Israel.
[Zachor, Ditza A.] Assaf Harofeh Med Ctr, Autism Ctr, IL-70300 Zerifin, Israel.
[Gabis, Lidia V.] Safra Childrens Hosp, Child Dev Ctr, Tel Hashomer, Israel.
[Bar-Chaim, Adina; Benveniste-Levkovitz, Patricia] Assaf Harofeh Med Ctr, Pharmacogenet Lab, IL-70300 Zerifin, Israel.
[Britzi, Malka; Soback, Stefan] Hebrew Univ Jerusalem, Minist Agr, Natl Residue Control Lab, Jerusalem, Israel.
[Ziv-Baran, Tomer] Tel Aviv Univ, Sackler Fac Med, Sch Publ Hlth, Dept Epidemiol & Prevent Med, IL-69978 Tel Aviv, Israel.
RP Youngster, I (reprint author), Assaf Harofeh Med Ctr, Clin Pharmacol Unit, IL-70300 Zerifin, Israel.
EM ilan.youngster@yahoo.com
RI Youngster, Ilan/J-5047-2014
OI Youngster, Ilan/0000-0001-5233-1213
FU Israeli Society for Clinical Pediatrics (CHIPAK)
FX This study was supported by a grant from the Israeli Society for
Clinical Pediatrics (CHIPAK). The authors have stated that they had no
interests that could be perceived as posing a bias or conflict.
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Yagihashi T, 2009, HUM PSYCHOPHARM CLIN, V24, P301, DOI 10.1002/hup.1025
NR 26
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0012-1622
EI 1469-8749
J9 DEV MED CHILD NEUROL
JI Dev. Med. Child Neurol.
PD OCT
PY 2014
VL 56
IS 10
BP 990
EP 994
DI 10.1111/dmcn.12470
PG 5
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AP5PM
UT WOS:000342131100018
PM 24828442
ER
PT J
AU Mahone, EM
Ryan, M
Ferenc, L
Morris-Berry, C
Singer, HS
AF Mahone, E. Mark
Ryan, Matthew
Ferenc, Lisa
Morris-Berry, Christina
Singer, Harvey S.
TI Neuropsychological function in children with primary complex motor
stereotypies
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Article
ID LONGITUDINAL FOLLOW-UP; DEVELOPMENTAL DISORDERS; REPETITIVE BEHAVIOR;
CLINICAL-FEATURES; QUESTIONNAIRE; AUTISM; RELIABILITY; MOVEMENTS;
VALIDITY
AB AimComplex motor stereotypies (CMS) are patterned, repetitive, rhythmic, and involuntary movements that persist over time. They are divided into two subgroups dependent on the presence of other developmental problems: primary' (development is otherwise typical) or secondary' (associated with autism, intellectual disability, or sensory deficits). There are no currently published studies that examine neuropsychological function in children with primary CMS. This case-control study examines whether children with primary CMS manifest neurobehavioral deficits.
MethodFifty-seven children with primary CMS (32 males, 25 females; mean age 6y 8mo, SD 2y 4mo, range 4-12y) with negative screens for autism and 57 comparison participants (32 males, 25 females; mean age 6y 6mo, SD 2y 1mo) completed neuropsychological assessments of IQ, reading ability, attention, language, and motor and executive functions. Parents completed ratings of their child's repetitive movement severity.
ResultsThe CMS group performed significantly less well than comparison participants on motor skills and IQ tests (both p<0.01), although IQ was consistently in the average range. One-third of the CMS group showed signs of developmental motor coordination difficulties. Parent report of stereotypy severity was significantly associated with parent report of inattention and executive dysfunction.
InterpretationChildren with primary CMS were found to have largely intact neuropsychological profiles. Stereotypy severity appears to be associated with executive dysfunction. Although motor difficulties were observed in children with CMS, these were not correlated with parent report of symptom severity.
C1 [Mahone, E. Mark; Ryan, Matthew; Ferenc, Lisa] Kennedy Krieger Inst, Dept Neuropsychol, Baltimore, MD 21231 USA.
[Morris-Berry, Christina; Singer, Harvey S.] Johns Hopkins Univ, Sch Med, Pediat Neurol Ctr, Baltimore, MD USA.
RP Mahone, EM (reprint author), Kennedy Krieger Inst, Dept Neuropsychol, 1750 E Fairmt Ave, Baltimore, MD 21231 USA.
EM mahone@kennedykrieger.org
FU Nesbit-McMaster Foundation [P30 HD24061, 1R01 HD068425, 1R21 MH092693,
1R01 NS043480, UL1 RR025005]
FX A portion of this study was presented at the annual meeting of the Child
Neurology Society, November, 2012. Supported by the Nesbit-McMaster
Foundation; P30 HD24061; 1R01 HD068425; 1R21 MH092693; 1R01 NS043480;
and UL1 RR025005. The funding agencies were not involved in the design,
data collection, data analysis, manuscript preparation, or publication
design.
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NR 33
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0012-1622
EI 1469-8749
J9 DEV MED CHILD NEUROL
JI Dev. Med. Child Neurol.
PD OCT
PY 2014
VL 56
IS 10
BP 1001
EP 1008
DI 10.1111/dmcn.12480
PG 8
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AP5PM
UT WOS:000342131100020
PM 24814517
ER
PT J
AU Gunn, KS
Trembath, D
Hudry, K
AF Gunn, Katrine Sophie
Trembath, David
Hudry, Kristelle
TI An examination of interactions among children with autism and their
typically developing peers
SO DEVELOPMENTAL NEUROREHABILITATION
LA English
DT Article
DE Autism; communication; social interaction; peer interaction; play
ID ALTERNATIVE COMMUNICATION; ECOLOGICAL FEATURES; DISABILITIES;
PRESCHOOLERS; SPECTRUM; PLAY
AB Objective: To determine whether pre-school children with Autism Spectrum Disorders (ASD) interact differently with their peers with ASD compared to their typically developing (TD) peers, across three activities (free play, structured group time and semi-structured play) in an early intervention setting.
Methods: We completed a series of non-experimental case studies involving 13 children with ASD and two TD peers.
Results: We found trends, but no uniform differences, in the frequency or quality of means by which the children with ASD interacted with one another versus with their TD peers across the three contexts. The children with ASD interacted with both peer types more frequently during the semi-structured and structured activities, than during free play.
Conclusions: The children with ASD showed no clear bias towards one peer type over the other. Semi-structured activities may be the best context in which to facilitate peer interactions involving children with ASD in early intervention settings.
C1 [Gunn, Katrine Sophie; Trembath, David; Hudry, Kristelle] La Trobe Univ, Sch Psychol Sci, Olga Tennison Autism Res Ctr, Bundoora, Vic 3086, Australia.
RP Trembath, D (reprint author), La Trobe Univ, Sch Psychol Sci, Olga Tennison Autism Res Ctr, Bundoora, Vic 3086, Australia.
EM D.Trembath@latrobe.edu.au
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NR 20
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1751-8423
EI 1751-8431
J9 DEV NEUROREHABIL
JI Dev. Neurorehabil.
PD OCT
PY 2014
VL 17
IS 5
BP 327
EP 338
DI 10.3109/17518423.2013.778348
PG 12
WC Clinical Neurology; Pediatrics; Rehabilitation
SC Neurosciences & Neurology; Pediatrics; Rehabilitation
GA AP0SS
UT WOS:000341774900005
PM 23869995
ER
PT J
AU Zhang, JS
Wang, AH
Li, Y
Lu, XY
Wang, F
Fang, F
AF Zhang, Jishui
Wang, Aihua
Li, Yan
Lu, Xiaoyan
Wang, Fang
Fang, Fang
TI Association of NCAM1 Polymorphisms with Autism and Parental Age at
Conception in a Chinese Han Population
SO GENETIC TESTING AND MOLECULAR BIOMARKERS
LA English
DT Article
ID CELL-ADHESION MOLECULE; DE-NOVO MUTATIONS; PATERNAL-AGE; SPECTRUM
DISORDERS; PSYCHIATRIC-DISORDERS; SYNAPTIC PLASTICITY; STRUCTURAL
VARIANTS; COMPLEX; BRAIN; SCHIZOPHRENIA
AB Aims: The neural cell adhesion molecule (NCAM) has been reported to be involved in the development of the central nervous system and its mRNA level might decrease in the serum of autistic patients. However, there was no evidence of the association of the NCAM1 gene polymorphisms with autism. In the present study, we enrolled 237 children with autism and 451 healthy control subjects. Then, we used the direct DNA sequencing for genotyping five tag single-nucleotide polymorphisms (SNPs) in the NCAM1 gene. Results: By using case-control association analyses, we found that three SNPs at the NCAM1 gene were associated with autism (rs4937786, p=0.015; rs12418058, p=0.0076; rs1436109, p=0.0023). Two of them remained significant after the Bonferroni multiple testing correction (rs12418058, p(corrcted)=0.038; rs1436109, p(corrcted)=0.012). Moreover, two of the SNPs were associated with the parental age at conception in autism (rs12418058, p=0.037; rs1436109, p=0.01). Conclusion: These results showed that NCAM1 might play an important role in the pathogenesis of autism.
C1 [Zhang, Jishui; Wang, Aihua; Li, Yan; Lu, Xiaoyan; Wang, Fang; Fang, Fang] Capital Med Univ, Beijing Childrens Hosp, Dept Neurol, Beijing 100045, Peoples R China.
RP Zhang, JS (reprint author), Capital Med Univ, Beijing Childrens Hosp, Dept Neurol, 56 Nanlishi Rd, Beijing 100045, Peoples R China.
EM zhangjishui@163.com; ff139@sohu.com
FU National Natural Science Foundation [81222017, 30870897]
FX The authors thank all subjects who participated in this study and their
colleagues for their assistance in recruiting patients in the study.
This research was supported by research grants from the National Natural
Science Foundation (grant numbers 81222017, 30870897).
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NR 46
TC 0
Z9 0
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1945-0265
EI 1945-0257
J9 GENET TEST MOL BIOMA
JI Genet. Test. Mol. Biomark.
PD OCT 1
PY 2014
VL 18
IS 10
BP 690
EP 694
DI 10.1089/gtmb.2014.0055
PG 5
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AQ0XZ
UT WOS:000342507300006
PM 25137309
ER
PT J
AU Marshall, J
Mendez, LMR
AF Marshall, Jennifer
Mendez, Linda M. Raffaele
TI Following Up on Community-Based Developmental Screening Do Young
Children Get the Services They Need?
SO INFANTS & YOUNG CHILDREN
LA English
DT Article
DE access to services; Child Find; developmental delay; early intervention;
parent satisfaction; preschoolers
ID SOCIAL VALIDATION; EARLY INTERVENTION; DELAYS; BARRIERS; PROGRAM;
SEEKING; AUTISM; HEALTH; HELP
AB Community-based efforts to identify young children with developmental delays have shown promise, yet little is known about what happens after screening. In this study, parents of 57 children between the ages of 3 and 5 years participated in a telephone survey that occurred 618 months after participation in a community-based screening program. Survey questions asked about whether parents had linked to recommended services, barriers to linkages, satisfaction with services, and continued unmet service needs. Although 70% of participants reported connecting to recommended services, only 54% reported that the service(s) met their child's needs. Continuing unmet needs included emotional-behavioral services; occupational therapy; child care and therapy for preschoolers; and more private or alternative options, particularly during after school hours and in rural areas. Implications for improving community-based services for children are discussed.
C1 [Marshall, Jennifer] Univ S Florida, Coll Publ Hlth, Tampa, FL 33612 USA.
[Mendez, Linda M. Raffaele] Univ S Florida, Sch Psychol Program, Tampa, FL 33612 USA.
RP Marshall, J (reprint author), Univ S Florida, Coll Publ Hlth, 13201 Bruce B Downs Blvd,MDC 56, Tampa, FL 33612 USA.
EM jmarshal@health.usf.edu
CR Al-Qabandi M, 2011, PEDIATRICS, V128, pE211, DOI 10.1542/peds.2010-1881
American Academy of Pediatrics, 2009, DEV MENT SCREEN EARL
Batshaw ML, 2002, CHILDREN DISABILITIE
Bethell C, 2011, PEDIATRICS, V128, P146, DOI 10.1542/peds.2010-0424
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Brigance A., 1992, BRIGANCE K 1 SCREEN
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Centers for Disease Control and Prevention, 2007, CHILD DEV DEV SCREEN
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Early Childhood Data Collaborative, 2014, 2013 STAT STAT EARL
Friedman M., 2005, TRYING BARD IS NOT G
Glascoe F P, 2000, Pediatr Rev, V21, P272, DOI 10.1542/pir.21-8-272
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McLean ME, 2002, J EARLY INTERVENTION, V25, P120, DOI 10.1177/105381510202500209
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Sices L, 2007, DEV SCREENING PRIMAR
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The Florida State University Center for Prevention and Early Intervention Policy, 2001, FLOR STRAT PLAN INF
U. S. Department of Education Office of Special Education Programs IDEA Data Center, 2012, 2012 IDEA C
U. S. Department of Education Office of Special Education Programs IDEA Data Center, 2012, 2012 IDEA B
WOLF MM, 1978, J APPL BEHAV ANAL, V11, P203, DOI 10.1901/jaba.1978.11-203
NR 40
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0896-3746
EI 1550-5081
J9 INFANT YOUNG CHILD
JI Infants Young Child.
PD OCT-DEC
PY 2014
VL 27
IS 4
BP 276
EP 291
DI 10.1097/IYC.0000000000000019
PG 16
WC Education, Special; Psychology, Developmental; Rehabilitation
SC Education & Educational Research; Psychology; Rehabilitation
GA AP1FC
UT WOS:000341811400002
ER
PT J
AU Whittingham, K
Sofronoff, K
Sheffield, J
Sanders, MR
AF Whittingham, Koa
Sofronoff, Kate
Sheffield, Jeanie
Sanders, Matthew R.
TI Stepping Stones Triple P: An RCT of a Parenting Program with Parents of
a Child Diagnosed with an Autism Spectrum Disorder (vol 37, pg 469,
2009)
SO JOURNAL OF ABNORMAL CHILD PSYCHOLOGY
LA English
DT Correction
C1 [Whittingham, Koa; Sofronoff, Kate; Sheffield, Jeanie; Sanders, Matthew R.] Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
RP Sofronoff, K (reprint author), Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
EM kate@psy.uq.edu.au
RI Whittingham, Koa/C-6766-2009
OI Whittingham, Koa/0000-0002-5344-9907
CR Whittingham K, 2009, J ABNORM CHILD PSYCH, V37, P469, DOI 10.1007/s10802-008-9285-x
NR 1
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0091-0627
EI 1573-2835
J9 J ABNORM CHILD PSYCH
JI J. Abnorm. Child Psychol.
PD OCT
PY 2014
VL 42
IS 7
BP 1249
EP 1249
DI 10.1007/s10802-014-9927-0
PG 1
WC Psychology, Clinical; Psychology, Developmental
SC Psychology
GA AP6GY
UT WOS:000342176800018
ER
PT J
AU Kaartinen, M
Puura, K
Helminen, M
Salmelin, R
Pelkonen, E
Juujarvi, P
AF Kaartinen, Miia
Puura, Kaija
Helminen, Mika
Salmelin, Raili
Pelkonen, Erja
Juujarvi, Petri
TI Reactive aggression among children with and without autism spectrum
disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; ASD; Aggression; Inhibitory processes; Gender
ID INTELLECTUAL DISABILITIES; ASPERGER-SYNDROME; CONDUCT DISORDER;
CHILDHOOD; BEHAVIOR; HYPERACTIVITY; PERSONALITY; IMPAIRMENT; AMYGDALA;
ADULTS
AB Twenty-seven boys and eight girls with ASD and thirty-five controls matched for gender, age and total score intelligence were studied to ascertain whether boys and girls with ASD display stronger reactive aggression than boys and girls without ASD. Participants performed a computerized version of the Pulkkinen aggression machine that examines the intensity of reactive aggression against attackers of varying gender and age. Relative to the control group boys, the boys with ASD reacted with more serious forms of aggression when subjected to mild aggressive attacks and did not consider a child attacker's opposite sex an inhibitory factor. The girls with ASD, on the other hand, reacted less aggressively than the girls without ASD. According to the results boys with ASD may not follow the typical development in cognitive regulation of reactive aggression.
C1 [Kaartinen, Miia; Puura, Kaija; Salmelin, Raili; Pelkonen, Erja] Tampere Univ Hosp, Dept Child Psychiat, Tampere 33521, Finland.
[Kaartinen, Miia; Puura, Kaija] Univ Tampere, Dept Child Psychiat, Sch Med, Tampere 33014, Finland.
[Helminen, Mika] Pirkanmaa Hosp Dist, Ctr Sci, Tampere 33521, Finland.
[Helminen, Mika; Salmelin, Raili] Univ Tampere, Tampere Sch Hlth Sci, Tampere 33014, Finland.
[Juujarvi, Petri] Kuopio Univ Hosp, Dept Adolescent Psychiat, Kuopio 70211, Finland.
RP Kaartinen, M (reprint author), Tampere Univ Hosp, Dept Child Psychiat, Box 2000, Tampere 33521, Finland.
EM miia.kaartinen@fimnet.fi
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 36
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2383
EP 2391
DI 10.1007/s10803-012-1743-1
PG 9
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800001
PM 23263769
ER
PT J
AU Davidson, J
Goin-Kochel, RP
Green-Snyder, LA
Hundley, RJ
Warren, Z
Peters, SU
AF Davidson, Julie
Goin-Kochel, Robin P.
Green-Snyder, Lee Anne
Hundley, Rachel J.
Warren, Zachary
Peters, Sarika U.
TI Expression of the Broad Autism Phenotype in Simplex Autism Families from
the Simons Simplex Collection
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Broad autism phenotype
ID MULTIPLE-INCIDENCE; PARENTS; PERSONALITY; INDIVIDUALS; DISORDERS;
SIBLINGS; GENETICS; TRAITS; REGRESSION; PROBANDS
AB The broad autism phenotype (BAP) refers to the phenotypic expression of an underlying genetic liability to autism, manifest in non-autistic relatives. This study examined the relationship among the Broad Autism Phenotype Questionnaire (BAPQ), Social Responsiveness Scale: Adult Research Version (SRS:ARV), and Family History Interview (FHI) in a large, multi-site study of 1,650 simplex families (Simons Simplex Collection). Correlations between the BAPQ and SRS:ARV Total scores were moderate, and correlations between FHI ratings and SRS:ARV and BAPQ were significant but weak. Overall, the results suggested that BAP traits occur at low rates in simplex families, and rates vary significantly depending upon the measure utilized. Implications include the need for multiple informants, and the assessment of distinct BAP traits in large-scale genetic studies of individuals with ASD.
C1 [Davidson, Julie; Hundley, Rachel J.; Warren, Zachary; Peters, Sarika U.] Vanderbilt Univ, Dept Pediat, Nashville, TN 37203 USA.
[Davidson, Julie; Hundley, Rachel J.; Warren, Zachary; Peters, Sarika U.] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37203 USA.
[Goin-Kochel, Robin P.] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA.
[Green-Snyder, Lee Anne] Childrens Hosp, Boston, MA 02115 USA.
RP Peters, SU (reprint author), Vanderbilt Univ, Dept Pediat, 230 Appleton Pl,PMB 74, Nashville, TN 37203 USA.
EM sarika.u.peters@vanderbilt.edu
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NR 26
TC 3
Z9 3
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2392
EP 2399
DI 10.1007/s10803-012-1492-1
PG 8
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800002
PM 22382605
ER
PT J
AU Hus, V
Gotham, K
Lord, C
AF Hus, Vanessa
Gotham, Katherine
Lord, Catherine
TI Standardizing ADOS Domain Scores: Separating Severity of Social Affect
and Restricted and Repetitive Behaviors
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Autism Diagnostic Observation Schedule;
Severity; Social Affect; Restricted and Repetitive Behaviors
ID AUTISM SPECTRUM DISORDERS; DIAGNOSTIC OBSERVATION SCHEDULE; CRITERIA;
VALIDITY
AB Standardized Autism Diagnostic Observation Schedule (ADOS) scores provide a measure of autism severity that is less influenced by child characteristics than raw totals (Gotham et al. in Journal of Autism and Developmental Disorders, 39(5), 693-705 2009). However, these scores combine symptoms from the Social Affect (SA) and Restricted and Repetitive Behaviors (RRB) domains. Separate calibrations of each domain would provide a clearer picture of ASD dimensions. The current study separately calibrated raw totals from the ADOS SA and RRB domains. Standardized domain scores were less influenced by child characteristics than raw domain totals, thereby increasing their utility as indicators of Social-Communication and Repetitive Behavior severity. Calibrated domain scores should facilitate efforts to examine trajectories of ASD symptoms and links between neurobiological and behavioral dimensions.
C1 [Hus, Vanessa] Univ Michigan, Dept Psychol, Ann Arbor, MI 48109 USA.
[Gotham, Katherine] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Nashville, TN 37235 USA.
[Lord, Catherine] Weill Cornell Med Coll, Ctr Autism & Developing Brain, White Plains, NY USA.
RP Hus, V (reprint author), Univ Michigan, Dept Psychol, 530 Church St, Ann Arbor, MI 48109 USA.
EM vhus@umich.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2011, DSM 5 DEV 09 AUT SPE
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NR 28
TC 9
Z9 9
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 OCT
PY 2014
VL 44
IS 10
BP 2400
EP 2412
DI 10.1007/s10803-012-1719-1
PG 13
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800003
PM 23143131
ER
PT J
AU Patten, E
Belardi, K
Baranek, GT
Watson, LR
Labban, JD
Oller, DK
AF Patten, Elena
Belardi, Katie
Baranek, Grace T.
Watson, Linda R.
Labban, Jeffrey D.
Oller, D. Kimbrough
TI Vocal Patterns in Infants with Autism Spectrum Disorder: Canonical
Babbling Status and Vocalization Frequency
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Canonical babbling; Volubility; Vocal patterns; Early detection
ID SPEECH-LIKE VOCALIZATIONS; YOUNG-CHILDREN; DEVELOPMENTAL DELAYS;
EARLY-DIAGNOSIS; DOWN-SYNDROME; RISK-FACTORS; HEARING-LOSS; LATE-ONSET;
2ND YEAR; LANGUAGE
AB Canonical babbling is a critical milestone for speech development and is usually well in place by 10 months. The possibility that infants with autism spectrum disorder (ASD) show late onset of canonical babbling has so far eluded evaluation. Rate of vocalization or "volubility" has also been suggested as possibly aberrant in infants with ASD. We conducted a retrospective video study examining vocalizations of 37 infants at 9-12 and 15-18 months. Twenty-three of the 37 infants were later diagnosed with ASD and indeed produced low rates of canonical babbling and low volubility by comparison with the 14 typically developing infants. The study thus supports suggestions that very early vocal patterns may prove to be a useful component of early screening and diagnosis of ASD.
C1 [Patten, Elena] Univ N Carolina, Dept Commun Sci & Disorders, Greensboro, NC 27402 USA.
[Belardi, Katie; Baranek, Grace T.; Watson, Linda R.] Univ N Carolina, Dept Allied Hlth Sci, Chapel Hill, NC 27599 USA.
[Labban, Jeffrey D.] Univ N Carolina, Greensboro, NC 27412 USA.
[Oller, D. Kimbrough] Univ Memphis, Memphis, TN 38105 USA.
[Oller, D. Kimbrough] Konrad Lorenz Inst Evolut & Cognit Res, Klosterneuburg, Austria.
RP Patten, E (reprint author), Univ N Carolina, Dept Commun Sci & Disorders, 300 Ferguson Bldg, Greensboro, NC 27402 USA.
EM e_patten@uncg.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 86
TC 2
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2413
EP 2428
DI 10.1007/s10803-014-2047-4
PG 16
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800004
PM 24482292
ER
PT J
AU Patten, E
Belardi, K
Baranek, GT
Watson, LR
Labban, JD
Oller, DK
AF Patten, Elena
Belardi, Katie
Baranek, Grace T.
Watson, Linda R.
Labban, Jeffrey D.
Oller, D. Kimbrough
TI Vocal Patterns in Infants with Autism Spectrum Disorder: Canonical
Babbling Status and Vocalization Frequency (vol 44, pg 2413, 2014)
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Correction
C1 [Patten, Elena] Univ N Carolina, Dept Commun Sci & Disorders, Greensboro, NC 27402 USA.
[Belardi, Katie; Baranek, Grace T.; Watson, Linda R.] Univ N Carolina, Dept Allied Hlth Sci, Chapel Hill, NC 27599 USA.
[Labban, Jeffrey D.] Univ N Carolina, Greensboro, NC 27412 USA.
[Oller, D. Kimbrough] Univ Memphis, Memphis, TN 38105 USA.
[Oller, D. Kimbrough] Konrad Lorenz Inst Evolut & Cognit Res, Klosterneuburg, Austria.
RP Patten, E (reprint author), Univ N Carolina, Dept Commun Sci & Disorders, 300 Ferguson Bldg, Greensboro, NC 27402 USA.
EM e_patten@uncg.edu
CR Patten E, 2014, J AUTISM DEV DISORD, V44, P2413, DOI 10.1007/s10803-014-2047-4
NR 1
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2429
EP 2429
DI 10.1007/s10803-014-2214-7
PG 1
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800005
ER
PT J
AU Pillai, D
Sheppard, E
Ropar, D
Marsh, L
Pearson, A
Mitchell, P
AF Pillai, Dhanya
Sheppard, Elizabeth
Ropar, Danielle
Marsh, Lauren
Pearson, Amy
Mitchell, Peter
TI Using Other Minds as a Window Onto the World: Guessing What Happened
from Clues in Behaviour
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Mentalising; Retrodiction; Social cognition; Mental states; Face
processing; Eye tracking
ID HIGH-FUNCTIONING ADULTS; FACIAL EXPRESSIONS; ASPERGERS-SYNDROME; AUTISM;
PERCEPTION; CHILDREN; SPECTRUM; EYES; EMOTIONS; INDIVIDUALS
AB It has been proposed that mentalising involves retrodicting as well as predicting behaviour, by inferring previous mental states of a target. This study investigated whether retrodiction is impaired in individuals with autism spectrum disorders (ASD). Participants watched videos of real people reacting to the researcher behaving in one of four possible ways. Their task was to decide which of these four "scenarios" each person responded to. Participants' eye movements were recorded. Participants with ASD were poorer than comparison participants at identifying the scenario to which people in the videos were responding. There were no group differences in time spent looking at the eyes or mouth. The findings imply those with ASD are impaired in using mentalising skills for retrodiction.
C1 [Pillai, Dhanya; Sheppard, Elizabeth; Mitchell, Peter] Univ Nottingham, Semenyih 43500, Selangor, Malaysia.
[Pillai, Dhanya] Univ Nottingham, Sch Psychol, Semenyih 43500, Selangor, Malaysia.
[Ropar, Danielle; Marsh, Lauren; Pearson, Amy] Univ Nottingham, Nottingham NG7 2RD, England.
RP Pillai, D (reprint author), Univ Nottingham, Sch Psychol, Malaysia Campus, Semenyih 43500, Selangor, Malaysia.
EM khpx9dkr@nottingham.edu.my
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 45
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 OCT
PY 2014
VL 44
IS 10
BP 2430
EP 2439
DI 10.1007/s10803-014-2106-x
PG 10
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800006
PM 24710812
ER
PT J
AU Baldwin, S
Costley, D
Warren, A
AF Baldwin, Susanna
Costley, Debra
Warren, Anthony
TI Employment Activities and Experiences of Adults with High-Functioning
Autism and Asperger's Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Asperger's Disorder; High functioning; Employment; Overeducation
ID LABOR-MARKET; OVEREDUCATION; UNDEREDUCATION
AB There is limited large-scale empirical research into the working lives of adults who have an autism spectrum disorder with no co-occurring intellectual disability. Drawing on data from a national survey, this report describes the employment activities and experiences of 130 adults with Asperger's Disorder (AD) and high functioning autism (HFA) in Australia. Outcome measures include current occupation; occupational skill level and alignment with educational attainment; type of job contract; hours of work; support received to find work; support received in the workplace; and positive and negative experiences of employment. The findings confirm and expand upon existing evidence that adults with AD and HFA, despite their capacity and willingness to work, face significant disadvantages in the labour market and a lack of understanding and support in employment settings.
C1 [Baldwin, Susanna; Costley, Debra; Warren, Anthony] Autism Spectrum Australia Aspect, Forestville, NSW 2087, Australia.
[Baldwin, Susanna] Autism Spectrum Australia Aspect, Seven Hills, NSW 1730, Australia.
RP Costley, D (reprint author), Autism Spectrum Australia Aspect, POB 361, Forestville, NSW 2087, Australia.
EM sbaldwin@autismspectrum.org.au; dcostley@autismspectrum.org.au
CR ABS, 2012, GEND IND
ABS, 2009, AUSTR SOC TRENDS
ABS, 2012, EMPL EARN HOURS
ABS, 2012, LAB FORC AUSTR
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Voon D, 2005, ECON REC, V81, pS22, DOI 10.1111/j.1475-4932.2005.00247.x
NR 31
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2440
EP 2449
DI 10.1007/s10803-014-2112-z
PG 10
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800007
PM 24715257
ER
PT J
AU Smith, MJ
Ginger, EJ
Wright, K
Wright, MA
Taylor, JL
Humm, LB
Olsen, DE
Bell, MD
Fleming, MF
AF Smith, Matthew J.
Ginger, Emily J.
Wright, Katherine
Wright, Michael A.
Taylor, Julie Lounds
Humm, Laura Boteler
Olsen, Dale E.
Bell, Morris D.
Fleming, Michael F.
TI Virtual Reality Job Interview Training in Adults with Autism Spectrum
Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Internet-based intervention; Job interview
skills; Vocational training
ID YOUNG-ADULTS; MISSING DATA; EMPLOYMENT; TRANSITION; INDIVIDUALS; VERSION
AB The feasibility and efficacy of virtual reality job interview training (VR-JIT) was assessed in a single-blinded randomized controlled trial. Adults with autism spectrum disorder were randomized to VR-JIT (n = 16) or treatment-as-usual (TAU) (n = 10) groups. VR-JIT consisted of simulated job interviews with a virtual character and didactic training. Participants attended 90 % of laboratory-based training sessions, found VR-JIT easy to use and enjoyable, and they felt prepared for future interviews. VR-JIT participants had greater improvement during live standardized job interview role-play performances than TAU participants (p = 0.046). A similar pattern was observed for self-reported self-confidence at a trend level (p = 0.060). VR-JIT simulation performance scores increased over time (R (2) = 0.83). Results indicate preliminary support for the feasibility and efficacy of VR-JIT, which can be administered using computer software or via the internet.
C1 [Smith, Matthew J.; Ginger, Emily J.; Wright, Katherine; Wright, Michael A.; Fleming, Michael F.] Northwestern Univ, Dept Psychiat & Behav Sci, Feinberg Sch Med, Chicago, IL 60611 USA.
[Taylor, Julie Lounds] Vanderbilt Univ, Dept Pediat, Vanderbilt Kennedy Ctr, Nashville, TN 37203 USA.
[Taylor, Julie Lounds] Vanderbilt Univ, Dept Special Educ, Vanderbilt Kennedy Ctr, Nashville, TN 37203 USA.
[Humm, Laura Boteler; Olsen, Dale E.] SIMmersion LLC, Columbia, MD 21046 USA.
[Bell, Morris D.] Yale Univ, Sch Med, Dept Psychiat, West Haven, CT 06516 USA.
[Bell, Morris D.] Yale Univ, Sch Med, Dept Vet Affairs, VACHS, West Haven, CT 06516 USA.
RP Smith, MJ (reprint author), Northwestern Univ, Dept Psychiat & Behav Sci, Feinberg Sch Med, 710 N Lake Shore Dr,Abbott Hall 13th Floor, Chicago, IL 60611 USA.
EM matthewsmith@northwestern.edu
CR Aldridge FJ, 2012, J AUTISM DEV DISORD, V42, P294, DOI 10.1007/s10803-011-1242-9
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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Smith M. J., J NERVOUS M IN PRESS
Smith MJ, 2014, SCHIZOPHRENIA BULL, V40, P824, DOI 10.1093/schbul/sbt084
Sommers MS, 2013, ALCOHOL CLIN EXP RES, V37, P1753, DOI 10.1111/acer.12142
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Wilkinson G. S., 2006, WIDE RANGE ACHIEVEME
WING L, 1979, J AUTISM DEV DISORD, V9, P11, DOI 10.1007/BF01531288
NR 39
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2450
EP 2463
DI 10.1007/s10803-014-2113-y
PG 14
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800008
PM 24803366
ER
PT J
AU Gevarter, C
O'Reilly, MF
Rojeski, L
Sammarco, N
Sigafoos, J
Lancioni, GE
Lang, R
AF Gevarter, Cindy
O'Reilly, Mark F.
Rojeski, Laura
Sammarco, Nicolette
Sigafoos, Jeff
Lancioni, Giulio E.
Lang, Russell
TI Comparing Acquisition of AAC-Based Mands in Three Young Children with
Autism Spectrum Disorder Using iPad(A (R)) Applications with Different
Display and Design Elements
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Augmentative and alternative communication; Autism spectrum disorder;
iPad (R); Display; Comparative
ID DEVELOPMENTAL-DISABILITIES; ALTERNATIVE COMMUNICATION; INDIVIDUALS;
TECHNOLOGIES; LANGUAGE; STUDENTS; LAYOUTS; SYSTEM; VOCA; PECS
AB Augmentative and alternative communication (AAC) applications may differ in their use of display and design elements. Using a multielement design, this study compared mand acquisition in three preschool-aged males with autism spectrum disorder, across three different displays in two iPad(A (R)) AAC applications. Displays included a Widgit symbol button (GoTalk), a photographical hotspot (Scene and Heard), and a Widgit symbol button along with a photograph (Scene and Heard). Applications had additional design differences. Two participants showed more rapid and consistent acquisition with the photographical hotspot than with the symbol button format, but did not master the combined format. The third participant mastered all three conditions at comparable rates. Results suggest that AAC display and design elements may influence mand acquisition.
C1 [Gevarter, Cindy; O'Reilly, Mark F.; Rojeski, Laura; Sammarco, Nicolette] Univ Texas Austin, Dept Special Educ, Austin, TX 78712 USA.
[Sigafoos, Jeff] Victoria Univ Wellington, Wellington, New Zealand.
[Lancioni, Giulio E.] Univ Bari, Bari, Italy.
[Lang, Russell] SW Texas State Univ, San Marcos, TX 78666 USA.
RP Gevarter, C (reprint author), Univ Texas Austin, Dept Special Educ, 1912 Speedway,D5300, Austin, TX 78712 USA.
EM cindygev@gmail.com
CR Achmadi D, 2012, RES AUTISM SPECT DIS, V6, P1258, DOI 10.1016/j.rasd.2012.05.005
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Angermeier K, 2008, RES AUTISM SPECT DIS, V2, P430, DOI 10.1016/j.rasd.2007.09.004
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NR 33
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 OCT
PY 2014
VL 44
IS 10
BP 2464
EP 2474
DI 10.1007/s10803-014-2115-9
PG 11
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800009
PM 24740458
ER
PT J
AU Carter, EJ
Williams, DL
Hodgins, JK
Lehman, JF
AF Carter, Elizabeth J.
Williams, Diane L.
Hodgins, Jessica K.
Lehman, Jill F.
TI Are Children with Autism More Responsive to Animated Characters? A Study
of Interactions with Humans and Human-Controlled Avatars
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Animated characters; Computer-assisted technology;
Computer-based interactions; Communication; Avatars
ID COMPUTER-ASSISTED-INSTRUCTION; SPECTRUM DISORDERS; LANGUAGE-DEVELOPMENT;
VOCABULARY; EXPERIENCE; MULTIMEDIA; INFANCY; BRAIN
AB Few direct comparisons have been made between the responsiveness of children with autism to computer-generated or animated characters and their responsiveness to humans. Twelve 4- to 8-year-old children with autism interacted with a human therapist; a human-controlled, interactive avatar in a theme park; a human actor speaking like the avatar; and cartoon characters who sought social responses. We found superior gestural and verbal responses to the therapist; intermediate response levels to the avatar and the actor; and poorest responses to the cartoon characters, although attention was equivalent across conditions. These results suggest that even avatars that provide live, responsive interactions are not superior to human therapists in eliciting verbal and non-verbal communication from children with autism in this age range.
C1 [Carter, Elizabeth J.; Hodgins, Jessica K.] Carnegie Mellon Univ, Inst Robot, Pittsburgh, PA 15213 USA.
[Williams, Diane L.] Duquesne Univ, Rangos Sch Hlth Sci, Pittsburgh, PA 15282 USA.
[Hodgins, Jessica K.; Lehman, Jill F.] Carnegie Mellon Univ, Dept Comp Sci, Pittsburgh, PA 15213 USA.
RP Carter, EJ (reprint author), Carnegie Mellon Univ, Inst Robot, 5000 Forbes Ave, Pittsburgh, PA 15213 USA.
EM liz.carter@aya.yale.edu; jill@kidaccess.com
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NR 27
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2475
EP 2485
DI 10.1007/s10803-014-2116-8
PG 11
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800010
PM 24859047
ER
PT J
AU Gordon, I
Pierce, MD
Bartlett, MS
Tanaka, JW
AF Gordon, Iris
Pierce, Matthew D.
Bartlett, Marian S.
Tanaka, James W.
TI Training Facial Expression Production in Children on the Autism Spectrum
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Autism spectrum disorder; Facial expression; Expression
production; Intervention; Social communication
ID EMOTIONAL EXPRESSIONS; AFFECTIVE CONTACT; RECOGNITION; IMITATION;
BEHAVIOR; MIMICRY; FACE; DISTURBANCES; PERCEPTION; VOLUNTARY
AB Children with autism spectrum disorder (ASD) show deficits in their ability to produce facial expressions. In this study, a group of children with ASD and IQ-matched, typically developing (TD) children were trained to produce "happy" and "angry" expressions with the FaceMaze computer game. FaceMaze uses an automated computer recognition system that analyzes the child's facial expression in real time. Before and after playing the Angry and Happy versions of FaceMaze, children posed "happy" and "angry" expressions. Na < ve raters judged the post-FaceMaze "happy" and "angry" expressions of the ASD group as higher in quality than their pre-FaceMaze productions. Moreover, the post-game expressions of the ASD group were rated as equal in quality as the expressions of the TD group.
C1 [Gordon, Iris; Pierce, Matthew D.; Tanaka, James W.] Univ Victoria, Dept Psychol, Victoria, BC V8W 3P5, Canada.
[Bartlett, Marian S.] Univ Calif San Diego, San Diego, CA 92103 USA.
RP Gordon, I (reprint author), Univ Victoria, Dept Psychol, POB 3050, Victoria, BC V8W 3P5, Canada.
EM igordon@uvic.ca; jtanaka@uvic.ca
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Atkinson A. P., 2005, EMOTION CONSCIOUSNES, P150
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NR 48
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 OCT
PY 2014
VL 44
IS 10
BP 2486
EP 2498
DI 10.1007/s10803-014-2118-6
PG 13
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800011
PM 24777287
ER
PT J
AU Koolen, S
Vissers, CTWM
Egger, JIM
Verhoeven, L
AF Koolen, Sophieke
Vissers, Constance Th. W. M.
Egger, Jos I. M.
Verhoeven, Ludo
TI How Stimulus and Task Complexity Affect Monitoring in High-Functioning
Adults with Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Executive function; Monitoring; Task variables
ID EXECUTIVE DYSFUNCTION; ASPERGER-SYNDROME; SPATIAL ATTENTION;
YOUNG-CHILDREN; VISUAL-SEARCH; PERFORMANCE; MEMORY; DISENGAGEMENT;
ABNORMALITY; CEREBELLAR
AB The present study examined whether individuals with autism spectrum disorder (ASD) are able to update and monitor working memory representations of visual input, and whether performance is influenced by stimulus and task complexity. 15 high-functioning adults with ASD and 15 controls were asked to allocate either elements of abstract figures or semantically meaningful pictures to the correct category, according to a certain set of rules. In general, the groups did not differ on measures of intelligence, working memory, attention, fluency and memory. For the monitoring of allocation of abstract figures, a similar pattern of reaction times was found for ASD and control participants. For the monitoring of allocation of semantically meaningful pictures, a different response pattern was found, with a stronger increase in response times for the ASD than for the control group when the number of categories increased. This suggests that participants with ASD are able to monitor working memory representations, but suffer under more complex circumstances.
C1 [Koolen, Sophieke] Vincent van Gogh Inst Psychiat, NL-5803 AC Venray, Netherlands.
[Vissers, Constance Th. W. M.; Egger, Jos I. M.] Vincent van Gogh Inst Psychiat, Ctr Excellence Neuropsychiat, NL-5803 AC Venray, Netherlands.
[Vissers, Constance Th. W. M.; Egger, Jos I. M.] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Ctr Cognit, NL-6500 HE Nijmegen, Netherlands.
[Egger, Jos I. M.; Verhoeven, Ludo] Radboud Univ Nijmegen, Inst Behav Sci, NL-6500 HE Nijmegen, Netherlands.
RP Koolen, S (reprint author), Vincent van Gogh Inst Psychiat, Stationsweg 46, NL-5803 AC Venray, Netherlands.
EM skoolen@vvgi.nl; cvissers@vvgi.nl; j.egger@psych.ru.nl;
l.verhoeven@pwo.ru.nl
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Barnard L, 2008, AUTISM, V12, P125, DOI 10.1177/1362361307088486
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Koolen S., CLIN NEUROP IN PRESS
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Williams MA, 2002, J AUTISM DEV DISORD, V32, P43, DOI 10.1023/A:1017904207328
NR 45
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 OCT
PY 2014
VL 44
IS 10
BP 2499
EP 2513
DI 10.1007/s10803-014-2119-5
PG 15
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800012
PM 24838251
ER
PT J
AU Meyer, BJ
Gardiner, JM
Bowler, DM
AF Meyer, Brenda J.
Gardiner, John M.
Bowler, Dermot M.
TI Directed Forgetting in High-Functioning Adults with Autism Spectrum
Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Autonoetic awareness; Elaborative rehearsal; Episodic memory
ID LONG-TERM-MEMORY; FREE-RECALL; ASPERGERS-SYNDROME; EPISODIC MEMORY;
MAINTENANCE REHEARSAL; AMNESIC SYNDROME; LIST METHODS; CHILDREN; MIND;
RECOGNITION
AB Rehearsal strategies of adults with autism spectrum disorders (ASDs) and demographically matched typically developed (TD) adults were strategically manipulated by cueing participants to either learn, or forget each list word prior to a recognition task. Participants were also asked to distinguish between autonoetic and noetic states of awareness using the Remember/Know paradigm. The ASD group recognised a similar number of to-be-forgotten words as the TD group, but significantly fewer to-be-learned words. This deficit was only evident in Remember responses that reflect autonoetic awareness, or episodic memory, and not Know responses. These findings support the elaborative encoding deficit hypothesis and provide a link between the previously established mild episodic memory impairments in adults with high functioning autism and the encoding strategies employed.
C1 [Meyer, Brenda J.] Univ Southampton, Dev Brain Behav Lab, Southampton SO17 1BJ, Hants, England.
[Meyer, Brenda J.; Gardiner, John M.] Univ Sussex, Dept Psychol, Sch Life Sci, Brighton, E Sussex, England.
[Gardiner, John M.; Bowler, Dermot M.] City Univ London, Autism Res Grp, Dept Psychol, London EC1V 0HB, England.
RP Meyer, BJ (reprint author), Univ Southampton, Dev Brain Behav Lab, 44 Highfield Campus, Southampton SO17 1BJ, Hants, England.
EM B.J.Meyer@soton.ac.uk
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Basden BH, 1996, MEMORY, V4, P633, DOI 10.1080/741941000
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World Health Organisation, 1992, ICD 10 CLASS MENT BE
NR 45
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 OCT
PY 2014
VL 44
IS 10
BP 2514
EP 2524
DI 10.1007/s10803-014-2121-y
PG 11
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800013
PM 24722763
ER
PT J
AU Goldman, SE
Adkins, KW
Calcutt, MW
Carter, MD
Goodpaster, RL
Wang, L
Shi, YP
Burgess, HJ
Hachey, DL
Malow, BA
AF Goldman, Suzanne E.
Adkins, Karen W.
Calcutt, M. Wade
Carter, Melissa D.
Goodpaster, Robert L.
Wang, Lily
Shi, Yaping
Burgess, Helen J.
Hachey, David L.
Malow, Beth A.
TI Melatonin in Children with Autism Spectrum Disorders: Endogenous and
Pharmacokinetic Profiles in Relation to Sleep
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Insomnia; N-acetylserotonin; Dim light melatonin onset
ID ORAL MELATONIN; BIOAVAILABILITY; HUMANS; RHYTHM; BEHAVIORS; PLASMA; ASMT
AB Supplemental melatonin has been used to treat sleep onset insomnia in children with autism spectrum disorders (ASD), although the mechanism of action is uncertain. We assessed endogenous and supplemental melatonin profiles in relation to sleep in nine children with ASD. In endogenous samples, maximal melatonin concentration (C (max)) and time to peak concentration (T (max)) were comparable to those previously published in the literature for typically developing children, and dim light melatonin onsets were captured in the majority of children. In treatment samples (supplemental melatonin), melatonin parameters were also comparable to those previously published for typically developing children. Our findings support that children with ASD and insomnia responsive to low dose melatonin treatment have relatively normal profiles of endogenous and supplemental melatonin.
C1 [Goldman, Suzanne E.; Adkins, Karen W.; Goodpaster, Robert L.; Malow, Beth A.] Vanderbilt Univ, Med Ctr, Dept Neurol, Burry Chair Cognit Childhood Dev,Sleep Disorders, Nashville, TN 37232 USA.
[Goldman, Suzanne E.; Adkins, Karen W.; Goodpaster, Robert L.; Malow, Beth A.] Vanderbilt Univ, Med Ctr, Dept Pediat, Burry Chair Cognit Childhood Dev,Sleep Disorders, Nashville, TN 37232 USA.
[Calcutt, M. Wade; Carter, Melissa D.] Vanderbilt Univ, Med Ctr, Dept Biochem, Nashville, TN 37232 USA.
[Calcutt, M. Wade; Carter, Melissa D.; Hachey, David L.] Vanderbilt Univ, Med Ctr, Mass Spectrometry Res Ctr, Nashville, TN 37232 USA.
[Wang, Lily; Shi, Yaping] Vanderbilt Univ, Med Ctr, Dept Biostat, Nashville, TN 37232 USA.
[Burgess, Helen J.] Rush Univ, Dept Behav Sci, Med Ctr, Chicago, IL 60612 USA.
[Hachey, David L.] Vanderbilt Univ, Med Ctr, Dept Pharmacol, Nashville, TN 37232 USA.
RP Malow, BA (reprint author), Vanderbilt Univ, Med Ctr, Dept Neurol, Burry Chair Cognit Childhood Dev,Sleep Disorders, 1161 21st Ave South,Room A-0116, Nashville, TN 37232 USA.
EM beth.malow@vanderbilt.edu
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American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 40
TC 3
Z9 3
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2525
EP 2535
DI 10.1007/s10803-014-2123-9
PG 11
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800014
PM 24752680
ER
PT J
AU Ballinger, EC
Cordeiro, L
Chavez, AD
Hagerman, RJ
Hessl, D
AF Ballinger, Elizabeth C.
Cordeiro, Lisa
Chavez, Alyssa D.
Hagerman, Randi J.
Hessl, David
TI Emotion Potentiated Startle in Fragile X Syndrome
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Fragile X syndrome; Social anxiety; Amygdala; Startle; Autism
ID DIAGNOSTIC OBSERVATION SCHEDULE; ABERRANT BEHAVIOR CHECKLIST; FMR-1 FULL
MUTATION; SOCIAL-BEHAVIOR; FACIAL EXPRESSIONS; MENTAL-RETARDATION; MOUSE
MODEL; AMYGDALA DYSFUNCTION; TWINS DISCORDANT; ACOUSTIC STARTLE
AB Social avoidance and anxiety are prevalent in fragile X syndrome (FXS) and are potentially mediated by the amygdala, a brain region critical for social behavior. Unfortunately, functional brain resonance imaging investigation of the amygdala in FXS is limited by the difficulties experienced by intellectually impaired and anxious participants. We investigated the relationship between social avoidance and emotion-potentiated startle, a probe of amygdala activation, in children and adolescents with FXS, developmental disability without FXS (DD), and typical development. Individuals with FXS or DD demonstrated significantly reduced potentiation to fearful faces than a typically developing control group (p < .05). However, among individuals with FXS, social avoidance correlated positively with fearful-face potentiation (p < .05). This suggests that general intellectual disability blunts amygdalar response, but differential amygdala responsiveness to social stimuli contributes to phenotypic variability among individuals with FXS.
C1 [Ballinger, Elizabeth C.] SUNY Stony Brook, Grad Program Neurosci, Dept Neurobiol & Behav, Stony Brook, NY 11794 USA.
[Cordeiro, Lisa] Univ Colorado Sch Med, Dept Pediat, Aurora, CO 80045 USA.
[Chavez, Alyssa D.] Empir Educ, Palo Alto, CA 94306 USA.
[Hagerman, Randi J.] Univ Calif Davis Med Ctr, Dept Pediat, MIND Inst, Sacramento, CA 95817 USA.
[Hessl, David] Univ Calif Davis Med Ctr, Dept Psychiat & Behav Sci, MIND Inst, Sacramento, CA 95817 USA.
RP Hessl, D (reprint author), Univ Calif Davis Med Ctr, Dept Psychiat & Behav Sci, MIND Inst, 2825 50th St, Sacramento, CA 95817 USA.
EM david.hessl@ucdmc.ucdavis.edu
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NR 65
TC 0
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2536
EP 2546
DI 10.1007/s10803-014-2125-7
PG 11
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800015
PM 24816942
ER
PT J
AU Jokiranta, E
Sourander, A
Suominen, A
Timonen-Soivio, L
Brown, AS
Sillanpaa, M
AF Jokiranta, Elina
Sourander, Andre
Suominen, Auli
Timonen-Soivio, Laura
Brown, Alan S.
Sillanpaa, Matti
TI Epilepsy Among Children and Adolescents with Autism Spectrum Disorders:
A Population-Based Study
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Epilepsy; Autism spectrum disorders; Intellectual disability; Gender;
Age at onset; Population-based
ID MENTAL-RETARDATION; RECURRENT REARRANGEMENTS; INTELLECTUAL DISABILITY;
PSYCHIATRIC-DISORDERS; PREVALENCE; SCHIZOPHRENIA; INDIVIDUALS;
COMORBIDITY; CHILDHOOD; SEIZURES
AB The present population-based study examines associations between epilepsy and autism spectrum disorders (ASD). The cohort includes register data of 4,705 children born between 1987 and 2005 and diagnosed as cases of childhood autism, Asperger's syndrome or pervasive developmental disorders-not otherwise specified. Each case was matched to four controls by gender, date of birth, place of birth, and residence in Finland. Epilepsy was associated with ASD regardless of the subgroup after adjusting for covariates. The associations were stronger among cases with intellectual disability, especially among females. Epilepsy's age at onset was similar between the cases and controls regardless of the ASD subgroup. These findings emphasize the importance to examine the neurodevelopmental pathways in ASD, epilepsy and intellectual disability.
C1 [Jokiranta, Elina; Sourander, Andre; Suominen, Auli; Timonen-Soivio, Laura] Univ Turku, Dept Child Psychiat, Turku 20014, Finland.
[Jokiranta, Elina; Sourander, Andre; Suominen, Auli; Timonen-Soivio, Laura] Turku Univ Hosp, FIN-20520 Turku, Finland.
[Sourander, Andre; Brown, Alan S.] Columbia Univ Coll Phys & Surg, New York State Psychiat Inst, Dept Psychiat, New York, NY 10032 USA.
[Timonen-Soivio, Laura] Univ Helsinki, Cent Hosp, Dept Child Neurol, Helsinki, Finland.
[Brown, Alan S.] Columbia Univ, Dept Epidemiol, Mailman Sch Publ Hlth, New York, NY USA.
[Sillanpaa, Matti] Univ Turku, Dept Child Neurol, Turku 20014, Finland.
[Sillanpaa, Matti] Univ Turku, Dept Publ Hlth, Turku 20014, Finland.
RP Jokiranta, E (reprint author), Univ Turku, Dept Child Psychiat, Lemminkaisenkatu 3 Teutori 3rd Floor, Turku 20014, Finland.
EM ekjoki@utu.fi; andre.sourander@utu.fi
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NR 50
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2547
EP 2557
DI 10.1007/s10803-014-2126-6
PG 11
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800016
PM 24803367
ER
PT J
AU Gidaya, NB
Lee, BK
Burstyn, I
Yudell, M
Mortensen, EL
Newschaffer, CJ
AF Gidaya, Nicole B.
Lee, Brian K.
Burstyn, Igor
Yudell, Michael
Mortensen, Erik L.
Newschaffer, Craig J.
TI In Utero Exposure to Selective Serotonin Reuptake Inhibitors and Risk
for Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Selective serotonin reuptake inhibitors;
Pregnancy; Depression
ID POPULATION-BASED COHORT; MATERNAL DEPRESSION; ANTIDEPRESSANT USE;
PRENATAL EXPOSURE; PSYCHIATRIC-DISORDERS; PREGNANCY OUTCOMES;
EMOTIONAL-PROBLEMS; IMPACT; CHILD; MOOD
AB We investigated whether there is an association between increased risk for autism spectrum disorders (ASD) and selective serotonin reuptake inhibitors (SSRIs) used during pregnancy. This study used Denmark's health and population registers to obtain information regarding prescription drugs, ASD diagnosis, and health and socioeconomic status. There were 1.5 % of cases and 0.7 % of controls exposed to SSRIs during the pregnancy period, and higher effect estimates observed with longer use. We found evidence that in utero exposure to SSRIs increases a child's risk associated with ASD. These results, while adding to the limited knowledge on prenatal pharmacological exposures as potential ASD risk factors, need to be balanced against the benefits of indicated medication use by pregnant mothers.
C1 [Gidaya, Nicole B.; Lee, Brian K.; Burstyn, Igor; Yudell, Michael] Drexel Univ, Sch Publ Hlth, Philadelphia, PA 19104 USA.
[Mortensen, Erik L.] Univ Copenhagen, Inst Folkesundhedsvidenskab, DK-1353 Copenhagen K, Denmark.
[Newschaffer, Craig J.] Drexel Univ, AJ Drexel Autism Inst, Philadelphia, PA 19104 USA.
RP Gidaya, NB (reprint author), Drexel Univ, Sch Publ Hlth, Nesbitt Hall,3215 Market St, Philadelphia, PA 19104 USA.
EM ngidaya@gmail.com
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NR 58
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2558
EP 2567
DI 10.1007/s10803-014-2128-4
PG 10
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800017
PM 24803368
ER
PT J
AU Olofson, EL
Casey, D
Oluyedun, OA
Van Herwegen, J
Becerra, A
Rundblad, G
AF Olofson, Eric L.
Casey, Drew
Oluyedun, Olufemi A.
Van Herwegen, Jo
Becerra, Adam
Rundblad, Gabriella
TI Youth with Autism Spectrum Disorder Comprehend Lexicalized and Novel
Primary Conceptual Metaphors
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Metaphor; Conceptual metaphor; Language
ID METONYMY COMPREHENSION; CHILDRENS COMPREHENSION; FIGURATIVE LANGUAGE;
ASPERGER-SYNDROME; CONTEXT; CONNECTIVITY; COMPETENCE; KNOWLEDGE;
THINKING; ADULTS
AB Individuals with autism spectrum disorder (ASD) have difficulty comprehending metaphors. However, no study to date has examined whether or not they understand conceptual metaphors (i.e. mappings between conceptual structures), which could be the building blocks of metaphoric thinking and understanding. We investigated whether 13 participants with ASD (age 7;03-22;03) and 13 age-matched typically developing (TD) controls could comprehend lexicalized conceptual metaphors (e.g., Susan is a warm person) and novel ones (e.g., Susan is a toasty person). Individuals with ASD performed at greater than chance levels on both metaphor types, although their performance was lower than TD participants. We discuss the theoretical relevance of these findings and educational implications.
C1 [Olofson, Eric L.; Casey, Drew; Oluyedun, Olufemi A.; Becerra, Adam] Wabash Coll, Crawfordsville, IN 47933 USA.
[Van Herwegen, Jo] Univ Kingston, Kingston Upon Thames KT1 2EE, Surrey, England.
[Rundblad, Gabriella] Kings Coll London, London SE1 9NH, England.
RP Olofson, EL (reprint author), Wabash Coll, 301 W Wabash Ave, Crawfordsville, IN 47933 USA.
EM olofsone@wabash.edu
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NR 78
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2568
EP 2583
DI 10.1007/s10803-014-2129-3
PG 16
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800018
PM 24803369
ER
PT J
AU Denmark, T
Atkinson, J
Campbell, R
Swettenham, J
AF Denmark, Tanya
Atkinson, Joanna
Campbell, Ruth
Swettenham, John
TI How do Typically Developing Deaf Children and Deaf Children with Autism
Spectrum Disorder Use the Face When Comprehending Emotional Facial
Expressions in British Sign Language?
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Deafness; Sign language; Emotion; Facial
expression
ID RECOGNITION; DEFICITS; HEARING; PROSODY; GAZE
AB Facial expressions in sign language carry a variety of communicative features. While emotion can modulate a spoken utterance through changes in intonation, duration and intensity, in sign language specific facial expressions presented concurrently with a manual sign perform this function. When deaf adult signers cannot see facial features, their ability to judge emotion in a signed utterance is impaired (Reilly et al. in Sign Lang Stud 75:113-118, 1992). We examined the role of the face in the comprehension of emotion in sign language in a group of typically developing (TD) deaf children and in a group of deaf children with autism spectrum disorder (ASD). We replicated Reilly et al.'s (Sign Lang Stud 75:113-118, 1992) adult results in the TD deaf signing children, confirming the importance of the face in understanding emotion in sign language. The ASD group performed more poorly on the emotion recognition task than the TD children. The deaf children with ASD showed a deficit in emotion recognition during sign language processing analogous to the deficit in vocal emotion recognition that has been observed in hearing children with ASD.
C1 [Denmark, Tanya; Swettenham, John] UCL, Div Psychol & Language Sci, Dept Dev Sci, London WC1H 0PD, England.
[Denmark, Tanya; Atkinson, Joanna; Campbell, Ruth] UCL, Deafness Cognit & Language Res Ctr, London WC1H 0PD, England.
RP Denmark, T (reprint author), UCL, Deafness Cognit & Language Res Ctr, 49 Gordon Sq, London WC1H 0PD, England.
EM t.denmark@ucl.ac.uk
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NR 40
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2584
EP 2592
DI 10.1007/s10803-014-2130-x
PG 9
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800019
PM 24803370
ER
PT J
AU Gelbar, NW
Smith, I
Reichow, B
AF Gelbar, Nicholas W.
Smith, Isaac
Reichow, Brian
TI Systematic Review of Articles Describing Experience and Supports of
Individuals with Autism Enrolled in College and University Programs
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; ASD; Asperger; College; University
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; ASPERGER
SYNDROME; HIGHER-EDUCATION; SOCIAL-SKILLS; STUDENTS; NEURODIVERSITY;
PERSPECTIVES; CHILDHOOD; SYMPTOMS
AB The increase in the number of higher-functioning individuals with autism spectrum disorders (ASD) is likely to lead to an increased interest in postsecondary opportunities including degree-granting college and university programs. To provide an understanding of the current evidence-base for supporting individuals with ASD in higher education, this article reports the results of a systematic review of the literature concerning college students with ASD. Overall, 20 articles describing 69 individuals met the inclusion criteria. This small number of articles and participants indicates the scarcity of research on this topic and only two of these studies were experimental in nature. These studies described a video-self modeling intervention and a counseling intervention respectively. Eighteen "case studies" were also present in the literature that described difficulties ranging from anxiety to housing concerns. This review deliniates the limitation of our understanding of effective college programming for individuals with ASD.
C1 [Gelbar, Nicholas W.; Smith, Isaac; Reichow, Brian] Univ Connecticut, Ctr Hlth, AJ Pappanikou Ctr Excellence Dev Disabil, Farmington, CT 06030 USA.
RP Gelbar, NW (reprint author), Univ Connecticut, Ctr Hlth, AJ Pappanikou Ctr Excellence Dev Disabil, 263 Farmington Ave,MC 6222, Farmington, CT 06030 USA.
EM gelbar@uchc.edu
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NR 55
TC 1
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2593
EP 2601
DI 10.1007/s10803-014-2135-5
PG 9
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800020
PM 24816943
ER
PT J
AU Braun, JM
Froehlich, T
Kalkbrenner, A
Pfeiffer, CM
Fazili, Z
Yolton, K
Lanphear, BP
AF Braun, Joseph M.
Froehlich, Tanya
Kalkbrenner, Amy
Pfeiffer, Christine M.
Fazili, Zia
Yolton, Kimberly
Lanphear, Bruce P.
TI Brief Report: Are Autistic-Behaviors in Children Related to Prenatal
Vitamin Use and Maternal Whole Blood Folate Concentrations?
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Folate; Pregnancy; Prenatal vitamins
ID FOLIC-ACID SUPPLEMENTS; TOBACCO-SMOKE EXPOSURE; ONE-CARBON METABOLISM;
SPECTRUM DISORDERS; EARLY-PREGNANCY; RISK; REPRODUCIBILITY;
QUESTIONNAIRE; ASSOCIATION; VALIDITY
AB Prenatal multivitamin/folic acid supplement use may reduce the risk of autism spectrum disorders. We investigated whether 2nd trimester prenatal vitamin use and maternal whole blood folate (WBF) concentrations were associated with Social Responsiveness Scale (SRS) scores at 4-5 years of age in a prospective cohort of 209 mother-child pairs. After confounder adjustment, children born to women taking prenatal vitamins weekly/daily (n = 179) had lower odds of clinically elevated SRS scores (odds ratio 0.26; 95 % confidence interval 0.08, 0.89) than those who rarely/never took them (n = 30). WBF concentrations were not associated with SRS scores. The lack of association between WBF and autistic-behaviors may be due to the timing of biomarker measures relative to critical periods of brain development, confounding, or other modifying factors.
C1 [Braun, Joseph M.] Brown Univ, Dept Epidemiol, Sch Publ Hlth, Providence, RI 02912 USA.
[Froehlich, Tanya; Yolton, Kimberly] Cincinnati Childrens Hosp Med Ctr, Dept Pediat, Cincinnati, OH 45229 USA.
[Kalkbrenner, Amy] Univ Wisconsin, Zilber Sch Publ Hlth, Milwaukee, WI 53201 USA.
[Pfeiffer, Christine M.; Fazili, Zia] Ctr Dis Control & Prevent, Div Sci Lab, Natl Ctr Environm Hlth, Atlanta, GA 30341 USA.
[Lanphear, Bruce P.] Simon Fraser Univ, Fac Hlth & Sci, Burnaby, BC V5A 1S6, Canada.
[Lanphear, Bruce P.] BC Childrens & Womens Hosp, Child & Family Res Inst, Vancouver, BC V5Z 4H48, Canada.
RP Braun, JM (reprint author), Brown Univ, Dept Epidemiol, Sch Publ Hlth, Providence, RI 02912 USA.
EM joseph_braun_1@brown.edu
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NR 28
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 OCT
PY 2014
VL 44
IS 10
BP 2602
EP 2607
DI 10.1007/s10803-014-2114-x
PG 6
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800021
PM 24710813
ER
PT J
AU Prontera, P
Serino, D
Caldini, B
Scarponi, L
Merla, G
Testa, G
Muti, M
Napolioni, V
Mazzotta, G
Piccirilli, M
Donti, E
AF Prontera, Paolo
Serino, Domenico
Caldini, Bernardo
Scarponi, Laura
Merla, Giuseppe
Testa, Giuseppe
Muti, Marco
Napolioni, Valerio
Mazzotta, Giovanni
Piccirilli, Massimo
Donti, Emilio
TI Brief Report: Functional MRI of a Patient with 7q11.23 Duplication
Syndrome and Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; 7q11.23 Duplication; Amygdala;
Williams-Beuren syndrome; Limbic system; Magnetic resonance; Functional
magnetic resonance
ID EXPRESSIVE-LANGUAGE DELAY; WILLIAMS-BEUREN LOCUS; AMYGDALA VOLUME;
DE-NOVO; REGION; ADULTS; SIZE
AB The duplication of the Williams-Beuren syndrome (WBS) region (7q11.23) is a copy number variant associated with autism spectrum disorder (ASD). One of the most intriguing aspects is that the reciprocal microdeletion causes WBS, characterized by hypersociability, marked empathy, and a relative capacity in verbal short-term memory and language. Herein, we studied, by using functional morphological and volumetric magnetic resonance, a 17-year-old male patient who displays a de novo 7q11.23 duplication and ASD. The limbic system of the patient appeared hypo-functional, while the total brain volume was increased, thus contrasting, in an opposite and intriguing manner, with the global brain volume reduction reported in WBS. Even if these findings come from the analysis of a single patient and, therefore, have to be considered preliminary results, they encourage carrying on further functional and volumetric studies in patients with 7q11.23 duplication, to fully elucidate the role of this gene-dosage alteration on brain development and limbic system function.
C1 [Prontera, Paolo; Donti, Emilio] Univ Perugia, Med Genet Unit, Hosp SM della Misericordia, I-06123 Perugia, Italy.
[Serino, Domenico] Osped Pediat Bambino Gesu, Div Neurol, Rome, Italy.
[Caldini, Bernardo; Scarponi, Laura; Piccirilli, Massimo] Univ Perugia, Sect Psychiat & Clin Psychol, Terni Sch Med, I-06123 Perugia, Italy.
[Merla, Giuseppe] IRCCS Casa Sollievo della Sofferenza Hosp, Med Genet Unit, San Giovanni Rotondo, Italy.
[Testa, Giuseppe] European Inst Oncol, Dept Expt Oncol, Milan, Italy.
[Muti, Marco] Hosp S Maria, Dept Radiotherapy, Terni, Italy.
[Napolioni, Valerio] Innovat Pole Gen Genet & Biol, Perugia, Italy.
[Mazzotta, Giovanni] Univ Perugia, Sch Specializat Childhood Neurol & Psychiat, I-06123 Perugia, Italy.
RP Prontera, P (reprint author), Univ Perugia, Med Genet Unit, Hosp SM della Misericordia, Via E dal Pozzo, I-06123 Perugia, Italy.
EM pprontera@hotmail.com
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NR 17
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2608
EP 2613
DI 10.1007/s10803-014-2117-7
PG 6
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800022
PM 24722762
ER
PT J
AU Guy, L
Souders, M
Bradstreet, L
DeLussey, C
Herrington, JD
AF Guy, Lisa
Souders, Margaret
Bradstreet, Lauren
DeLussey, Christine
Herrington, John D.
TI Brief Report: Emotion Regulation and Respiratory Sinus Arrhythmia in
Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Anxiety; Emotion regulation; Respiratory sinus
arrhythmia
ID NEUROVISCERAL INTEGRATION; NERVOUS-SYSTEM; VAGAL TONE; CHILDREN;
ANXIETY; MODEL; PSYCHOPATHOLOGY; DYSREGULATION; CHALLENGES; YOUTH
AB Emotion regulation (ER) may be an important transdiagnostic factor for understanding mental and behavioral health given its association with several psychiatric disorders, including autism spectrum disorder (ASD). However, there is limited research on ER in ASD, particularly using biomarkers such as respiratory sinus arrhythmia (RSA). The aim of the current study was to examine RSA among school-aged children with ASD in relation to symptoms of anxiety, executive functioning, and adaptive socialization skills. Results showed decreased RSA in children with ASD (relative to typically developing controls), reflecting decreased parasympathetic nervous system activity. In addition, decreased RSA was associated with increased symptoms of anxiety and lower socialization skills. These findings emphasize the need for interventions targeting emotional and arousal regulation in ASD.
C1 [Guy, Lisa; Souders, Margaret; Bradstreet, Lauren; DeLussey, Christine; Herrington, John D.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA.
[Souders, Margaret] Univ Penn, Sch Nursing, Philadelphia, PA 19104 USA.
[Herrington, John D.] Univ Penn, Dept Child Psychiat & Behav Sci, Perelman Sch Med, Philadelphia, PA 19104 USA.
RP Guy, L (reprint author), Childrens Hosp Philadelphia, Ctr Autism Res, 3535 Market St,Suite 860, Philadelphia, PA 19104 USA.
EM guyl1@email.chop.edu
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NR 33
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2614
EP 2620
DI 10.1007/s10803-014-2124-8
PG 7
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800023
PM 24752681
ER
PT J
AU Wade, JL
Cox, NB
Reeve, RE
Hull, M
AF Wade, Jordan L.
Cox, Neill Broderick
Reeve, Ronald E.
Hull, Michael
TI Brief Report: Impact of Child Problem Behaviors and Parental Broad
Autism Phenotype Traits on Substance Use Among Parents of Children with
ASD
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Parental substance use; Child externalizing behaviors; Broad autism
phenotype; BAPQ-Simons Simplex Collection
ID MULTIPLE-INCIDENCE; PSYCHIATRIC-DISORDERS; STRESS PROLIFERATION;
SPECTRUM DISORDERS; FAMILY-HISTORY; DEPRESSED MOOD; RISK-FACTORS;
PERSONALITY
AB Using data from the Simons Simplex Collection, the present study examined the impact of child externalizing behavior and parental broad autism phenotype traits on substance use among parents of children with autism spectrum disorder (n = 2,388). For both fathers and mothers, child externalizing behaviors predicted tobacco use (OR = 1.01 and OR = 1.02, respectively), whereas rigidity increased risk of tobacco use for fathers (OR = 1.29) but not mothers. Additionally, among mothers, child externalizing behaviors increased risk of illegal substance use (OR = 1.04), whereas maternal rigidity decreased risk of alcohol use (OR = .83). Collectively, results suggest that child externalizing behaviors and parental rigidity may have differing impacts on the types of substances used by parents.
C1 [Wade, Jordan L.; Cox, Neill Broderick; Reeve, Ronald E.] Univ Virginia, Curry Sch Educ, Charlottesville, VA 22904 USA.
[Wade, Jordan L.; Cox, Neill Broderick; Reeve, Ronald E.] Univ Virginia, Curry Sch Educ, Sch Psychol, Charlottesville, VA 22904 USA.
[Hull, Michael] Univ Virginia, Charlottesville, VA 22904 USA.
RP Wade, JL (reprint author), Univ Virginia, Curry Sch Educ, POB 400270, Charlottesville, VA 22904 USA.
EM jlh6xf@virginia.edu
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NR 33
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 OCT
PY 2014
VL 44
IS 10
BP 2621
EP 2627
DI 10.1007/s10803-014-2132-8
PG 7
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800024
PM 24805795
ER
PT J
AU Leung, RC
Zakzanis, KK
AF Leung, Rachel C.
Zakzanis, Konstantine K.
TI Brief Report: Cognitive Flexibility in Autism Spectrum Disorders: A
Quantitative Review
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Cognitive flexibility; Autism spectrum disorders; ASD; Set-shifting;
Meta-analysis
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; HIGH-FUNCTIONING AUTISM; CARD
SORTING TEST; EXECUTIVE FUNCTION DEFICITS; SELECTION TASK FIST;
ASPERGER-SYNDROME; SOCIAL COGNITION; COMPUTERIZED VERSION;
RESPONSE-INHIBITION; NORMAL-CHILDREN
AB Impairments in cognitive flexibility have been used to characterize the neuropsychological presentation of persons with autism spectrum disorders (ASDs). Previous studies have yielded mixed results. Our objective was to systematically review the sensitivity of cognitive flexibility measures in ASD using quantitative methods employed by meta-analytic statistical techniques. Seventy-two studies met inclusion criteria for analysis and included a total of 2,137 individuals with ASD and 2,185 healthy controls. Our findings demonstrate that while the shift sub-scale of the self-report version of the Behavioral Rating Inventory of Executive Function (BRIEF) showed approximate absolute discriminability, of all the performance measures that were systematically reviewed and evaluated, none could reliably differentiate between individuals with ASD and controls; this is not surprising given that cognitive flexibility is not a core deficit of ASD. Our findings suggest that while the shift sub-scale of the self-report version of the BRIEF is a promising clinical marker, clinical performance measures of cognitive flexibility may lack ecological validity and lastly, reinforces that impairments in cognitive flexibility do not uniformly characterize all persons with ASD.
C1 [Leung, Rachel C.] Univ Toronto, Dept Psychol, Toronto, ON M5S 1A1, Canada.
[Leung, Rachel C.] Hosp Sick Children, Dept Diagnost Imaging, Toronto, ON M5G 1X8, Canada.
[Zakzanis, Konstantine K.] Univ Toronto Scarborough, Dept Psychol, Toronto, ON, Canada.
RP Leung, RC (reprint author), Hosp Sick Children, Dept Diagnost Imaging, 555 Univ Ave, Toronto, ON M5G 1X8, Canada.
EM r.leung@mail.utoronto.ca
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NR 113
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2628
EP 2645
DI 10.1007/s10803-014-2136-4
PG 18
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800025
PM 24862496
ER
PT J
AU Masterson, TL
Dimitriou, F
Turko, K
McPartland, J
AF Masterson, Tracy Loye
Dimitriou, Francine
Turko, Kristine
McPartland, James
TI Developing Undergraduate Coursework in Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Letter
DE Autism; Undergraduate; Course; Practicum; Applied behavior analysis
ID EDUCATION
AB With rates of autism spectrum disorders (ASD) continuing to rise alongside improvements in early identification and treatment, service providers are in great demand. Providing undergraduate students with opportunities for education and applied experiences with autism spectrum disorders (ASD) can help fill a valuable niche in the autism community. This paper will propose standards for best practice in educating undergraduates about autism spectrum disorders through coursework and practicum experiences.
C1 [Masterson, Tracy Loye] John Carroll Univ, Dept Psychol, Cleveland, OH 44118 USA.
[Dimitriou, Francine] Cleveland Clin Ctr Autism, Cleveland, OH USA.
[Turko, Kristine] Univ Mt Union, Alliance, OH USA.
[McPartland, James] Yale Univ, New Haven, CT USA.
RP Masterson, TL (reprint author), John Carroll Univ, Dept Psychol, 1 John Carroll Blvd, Cleveland, OH 44118 USA.
EM tmasterson@jcu.edu
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Volkmar FR, 2007, CA CH AD PS, P1
VOLKMAR FR, 1988, J AUTISM DEV DISORD, V18, P695, DOI 10.1007/BF02211887
NR 14
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 OCT
PY 2014
VL 44
IS 10
BP 2646
EP 2649
DI 10.1007/s10803-012-1673-y
PG 4
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800026
PM 23054203
ER
PT J
AU Milton, D
Mills, R
Pellicano, E
AF Milton, Damian
Mills, Richard
Pellicano, Elizabeth
TI Ethics and Autism: Where is the Autistic Voice? Commentary on Post et
al.
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Letter
C1 [Milton, Damian] Univ Birmingham, Sch Educ, ACER, Birmingham B15 2TT, W Midlands, England.
[Mills, Richard] Res Autism, London, England.
[Pellicano, Elizabeth] Univ London, Inst Educ, Dept Psychol & Human Dev, CRAE, London WC1H 0AA, England.
RP Pellicano, E (reprint author), Univ London, Inst Educ, Dept Psychol & Human Dev, CRAE, 25 Woburn Sq, London WC1H 0AA, England.
EM l.pellicano@ioe.ac.uk
CR Arnold L., 2010, THE MEDIUM IS THE ME
Lawson W., 2008, CONCEPTS OF NORMALIT
Milton DEM, 2012, DISABIL SOC, V27, P883, DOI 10.1080/09687599.2012.710008
Ne'eman A., 2011, QUESTION AND ANSWER
Pellicano E, 2011, NAT REV NEUROSCI, V12, P769, DOI 10.1038/nrn3113-c1
Post SG, 2013, J AUTISM DEV DISORD, V43, P1473, DOI 10.1007/s10803-012-1680-z
Sinclair J., 1993, DONT MOURN FOR US
Williams D., 1996, AUTISM AN INSIDE OUT
NR 8
TC 2
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2650
EP 2651
DI 10.1007/s10803-012-1739-x
PG 2
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800027
PM 23229456
ER
PT J
AU Olu-Lafe, O
Liederman, J
Tager-Flusberg, H
AF Olu-Lafe, Olufemi
Liederman, Jacqueline
Tager-Flusberg, Helen
TI Is the Ability to Integrate Parts into Wholes Affected in Autism
Spectrum Disorder?
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Letter
DE Integration of shapes; Local detail; Sociality; Visual processing
ID WEAK CENTRAL COHERENCE; HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME;
LOCAL BIAS; CHILDREN; PERCEPTION; DEFICITS; MIND; INTERFERENCE;
INFORMATION
AB There is considerable debate about whether people with autism spectrum disorder (ASD) are biased toward local information and whether this disrupts their ability to integrate two complex shapes elements into a single figure. Moreover, few have examined the relationship between integration ability and ASD symptom severity. Adolescent/adult males with ASD and age and IQ-matched controls were compared on their performance of a simple silhouette-to-shape matching task and a higher-order shape-integration task. Relative to basic silhouette-to-shape matching, ASD participants were disproportionately slower than controls on shape-integration. Moreover, this relative slowing correlated with increased symptom severity in ASD participants. These findings support the notion that integrating local information is disproportionately more challenging in ASD; this weakness may play a role in ASD symptomatology.
C1 [Olu-Lafe, Olufemi; Liederman, Jacqueline; Tager-Flusberg, Helen] Boston Univ, Dept Psychol, Brain Behav & Cognit Program, Boston, MA 02215 USA.
RP Liederman, J (reprint author), Boston Univ, Dept Psychol, Brain Behav & Cognit Program, 64 Cummington Mall, Boston, MA 02215 USA.
EM flafe@bu.edu; liederma@bu.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 40
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2652
EP 2660
DI 10.1007/s10803-014-2120-z
PG 9
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800028
PM 24737003
ER
PT J
AU Rapin, I
AF Rapin, Isabelle
TI Classification of Behaviorally Defined Disorders: Biology Versus the DSM
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Letter
DE Nosology; DSM; RDoC; Behavioral classification; Biologic classification;
Pathogenesis
ID PSYCHIATRY; AUTISM; GENES; BRAIN; RDOC; SCHIZOPHRENIA; EVOLUTION;
COGNITION; CHILDREN; DISEASE
AB Three levels of investigation underlie all biologically based attempts at classification of behaviorally defined developmental and psychiatric disorders: Level A, pseudo-categorical classification of mostly dimensional descriptions of behaviors and their disorders included in the 2013 American Psychiatric Association's Fifth Edition of the Diagnostic and Statistical Manual (DSM-5); Level C, mostly categorical classification of genetic and environmental causes (etiologies) of Level A disorders; and Level B, the pathophysiologic-both categorical and dimensional-biologic mechanisms underlying Level A "diagnoses" which comprise hierarchically interacting molecular, cellular, and neural networks and major brain pathways orchestrated by Level C etiologies. Besides modest numbers of effective psychotropic medications and their derivatives, major advances in treatment have addressed the behavioral symptoms of Level A-defined developmental and psychiatric disorders. The National Institute of Mental Health proposes support for a new biologically based Research Domain Criteria (RDoC) classification; its goal is to apply to behaviorally defined Level A developmental and psychiatric disorders the biologically based Level C and Level B research strategies that have greatly accelerated treatment and prevention of medical disorders. It plans to supplement effective educational and behavioral symptom-based interventions with faster, more potent and specific biologic therapies and, hopefully, to discover how effective behavioral interventions alter brain function. This commentary raises the question of whether a hybrid nosology that maps biology onto behavior is attainable. At a minimum, such a nosologic effort requires greater in-depth and better informed dialog between investigators of behavior and biology than occurs typically, and more realistic communication of the implications of research results to the public.
C1 [Rapin, Isabelle] Albert Einstein Coll Med, Dept Pediat, Saul R Korey Dept Neurol, Rose F Kennedy Ctr Res Intellectual & Dev Disabil, Bronx, NY 10461 USA.
RP Rapin, I (reprint author), Albert Einstein Coll Med, Dept Pediat, Saul R Korey Dept Neurol, Rose F Kennedy Ctr Res Intellectual & Dev Disabil, Bronx, NY 10461 USA.
EM isabelle.rapin@einstein.yu.edu
CR American Psychiatric Association, 2013, DIAGNOSTIC AND STATI
Wong CG, 2012, BIOL PSYCHIAT, V71, P458, DOI 10.1016/j.biopsych.2011.11.011
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World Health Organization, 1993, MENTAL DISORDERS GLO
NR 32
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2661
EP 2666
DI 10.1007/s10803-014-2127-5
PG 6
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800029
PM 24816869
ER
PT J
AU Benson, PR
AF Benson, Paul R.
TI Network Characteristics, Perceived Social Support, and Psychological
Adjustment in Mothers of Children with Autism Spectrum Disorder (vol 42,
pg 2597, 2012)
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Correction
C1 [Benson, Paul R.] Univ Massachusetts, Dept Sociol, Boston, MA 02125 USA.
[Benson, Paul R.] Univ Massachusetts, Ctr Social Dev & Educ, Boston, MA 02125 USA.
RP Benson, PR (reprint author), Univ Massachusetts, Dept Sociol, 100 Morrissey Blvd, Boston, MA 02125 USA.
EM paul.benson@umb.edu
CR Benson PR, 2012, J AUTISM DEV DISORD, V42, P2597, DOI 10.1007/s10803-012-1517-9
NR 1
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2670
EP 2670
DI 10.1007/s10803-012-1690-x
PG 1
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800032
ER
PT J
AU Erickson, LC
Scott-Van Zeeland, AA
Hamilton, G
Lincoln, A
Golomb, BA
AF Erickson, Laura C.
Scott-Van Zeeland, Ashley A.
Hamilton, Gavin
Lincoln, Alan
Golomb, Beatrice A.
TI Brief Report: Approaches to P-31-MRS in Awake, Non-Sedated Children With
and Without Autism Spectrum Disorder (vol 42, pg 1120, 2012)
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Correction
DE Autism; ASD; Magnetic resonance; Energetics; Muscle; Brain; Awake
ID DEVELOPMENTAL DISORDERS; YOUNG-CHILDREN; ATTENTION; MRI; TODDLERS;
MUSIC; SLEEP
AB We piloted a suite of approaches aimed to facilitate a successful series of up to four brain and muscle (31)phosphorus-magnetic resonance spectroscopy scans performed in one session in 12 awake, non-sedated subjects (ages 6-18), 6 with autism spectrum disorders (ASD) and 6 controls. We targeted advance preparation, parental input, physical comfort, short scan protocols, allocation of extra time, and subject emotional support. One hundred percent of subjects completed at least one brain scan and one leg muscle scan: 42 of 46 attempted scans were completed (91 %), with failures dominated by exercise muscle scans (completed in 6/6 controls but 3/6 cases). One completed scan lacked usable data unrelated to subject/scan procedure (orthodonture affected a frontal brain scan). As a group, these methods provide a foundation for conduct and enhancement of future MR studies in pediatric subjects with ASD.
C1 [Erickson, Laura C.; Scott-Van Zeeland, Ashley A.; Golomb, Beatrice A.] Univ Calif San Diego, Dept Med, La Jolla, CA 92093 USA.
[Erickson, Laura C.] Georgetown Univ, Interdisciplinary Program Neurosci, Washington, DC 20057 USA.
[Scott-Van Zeeland, Ashley A.] Scripps Translat Sci Inst, La Jolla, CA 92037 USA.
[Hamilton, Gavin] Univ Calif San Diego, Dept Radiol, San Diego, CA 92093 USA.
[Lincoln, Alan] Alliant Int Univ, San Diego, CA 92131 USA.
[Golomb, Beatrice A.] Univ Calif San Diego, Dept Family & Prevent Med, La Jolla, CA 92093 USA.
RP Golomb, BA (reprint author), Univ Calif San Diego, Dept Med, 9500 Gilman Dr 0995, La Jolla, CA 92093 USA.
EM bgolomb@ucsd.edu
CR Almli CR, 2007, NEUROIMAGE, V35, P308, DOI 10.1016/j.neuroimage.2006.08.058
Byars AW, 2002, J CHILD NEUROL, V17, P885, DOI 10.1177/08830738020170122201
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CLARK P, 1981, J AUTISM DEV DISORD, V11, P201, DOI 10.1007/BF01531685
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NR 31
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2671
EP 2677
DI 10.1007/s10803-013-1821-z
PG 7
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800033
ER
PT J
AU Sasaki, AM
Fryling, MJ
AF Sasaki, Azusa M.
Fryling, Mitch J.
TI Cup Distance Fading to Decrease Inappropriate Behavior in a Child with
Autism
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Antecedent; Drinking; Exposure; Fading; Liquid selectivity
ID FUNCTIONAL-ANALYSIS; MEALTIME BEHAVIOR; ESCAPE EXTINCTION; FOOD REFUSAL
AB The present study involves a replication and extension of previous research examining distance fading to decrease inappropriate mealtime behavior and increase liquid consumption from a cup. The presentation of a cup of water was associated with high levels of inappropriate behavior and low levels of consumption. A cup distance fading procedure was used to systematically expose the participant to a cup of water that initially resulted in high levels of inappropriate mealtime behavior and no consumption. Inappropriate mealtime behavior decreased and consumption increased during the distance fading intervention. Implications for future research and practice are provided.
C1 [Sasaki, Azusa M.] Chicago Sch Profess Psychol, Los Angeles, CA USA.
[Fryling, Mitch J.] Calif State Univ Los Angeles, Los Angeles, CA 90032 USA.
RP Fryling, MJ (reprint author), Calif State Univ Los Angeles, Los Angeles, CA 90032 USA.
EM mfrylin2@calstatela.edu
CR Bachmeyer Melanie H, 2009, Behav Anal Pract, V2, P43
Bachmeyer MH, 2009, J APPL BEHAV ANAL, V42, P641, DOI 10.1901/jaba.2009.42-641
Lerman DC, 1999, J APPL BEHAV ANAL, V32, P1, DOI 10.1901/jaba.1999.32-1
Najdowski AC, 2008, J APPL BEHAV ANAL, V41, P459, DOI 10.1901/jaba.2008.41-459
Patel MR, 2001, J APPL BEHAV ANAL, V34, P357, DOI 10.1901/jaba.2001.34-357
Piazza CC, 2003, J APPL BEHAV ANAL, V36, P187, DOI 10.1901/jaba.2003.36-187
Piazza CC, 2008, DEV DISABIL RES REV, V14, P174, DOI 10.1002/ddrr.22
Reed GK, 2004, J APPL BEHAV ANAL, V37, P27, DOI 10.1901/jaba.2004.37-27
Rivas KD, 2010, J APPL BEHAV ANAL, V43, P673, DOI 10.1901/jaba.2010.43-673
NR 9
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD OCT
PY 2014
VL 26
IS 5
BP 507
EP 512
DI 10.1007/s10882-013-9355-z
PG 6
WC Rehabilitation
SC Rehabilitation
GA AP1WY
UT WOS:000341864000001
ER
PT J
AU Strasberger, SK
Ferreri, SJ
AF Strasberger, Sean K.
Ferreri, Summer J.
TI The Effects of Peer Assisted Communication Application Training on the
Communicative and Social Behaviors of Children with Autism
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Autism; Speech-generative device; Peer-mediated intervention;
Augmentative and alternative communication
ID ALTERNATIVE COMMUNICATION; FUNCTIONAL COMMUNICATION;
DEVELOPMENTAL-DISABILITIES; SPECTRUM DISORDERS; SPEECH DEVELOPMENT;
LEAST PROMPTS; AGED CHILDREN; SYSTEM; STUDENTS; OUTPUT
AB Non-verbal children with autism are candidates for augmentative and alternative communication (AAC). Augmentative and Alternative Communication is defined as systems that either supplement or replace existing communication when speech impairments are present, such as the case with non-verbal children with autism (Mirenda, Language Speech and Hearing Services in Schools 34(3), 203-216, 2003). One type of AAC device is a speech-generating device (SGD). The primary drawbacks of past SGDs, which are portable electronic devices that produce digitized speech were their expense and portability. Newer iPod-based VOCAs alleviate these concerns. This study sought to evaluate an iPod-based SGD and a peer mediated intervention to teach children with autism more sophisticated communication skills. Using a multiple baseline design, four children with autism were taught through peer assisted communication application (PACA) training how to mand using a two-step sequence and respond to the questions, "What do you want?" and "What is your name?" using a two-step sequence. Data were taken on the number of independent mands and independent responses. Results indicated that three of the four participants were able to acquire communicative skills. The implications are analyzed in regards to the effectiveness of peer assisted communication application training to teach sophisticated communication skills.
C1 [Strasberger, Sean K.; Ferreri, Summer J.] Michigan State Univ, E Lansing, MI 48824 USA.
RP Strasberger, SK (reprint author), 5211 Madison Ave A7, Okemos, MI 48864 USA.
EM sean.strasberger@gmail.com
CR Achmadi D, 2012, RES AUTISM SPECT DIS, V6, P1258, DOI 10.1016/j.rasd.2012.05.005
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Centers for Disease Control and Prevention, 2012, AUTISM SPECTRUM DISO
Charlop-Christy MH, 2002, J APPL BEHAV ANAL, V35, P213, DOI 10.1901/jaba.2002.35-213
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Reichle J., 2002, EXEMPLARY PRACTICES
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Trottier N, 2011, AUGMENT ALTERN COMM, V27, P26, DOI 10.3109/07434618.2010.546810
NR 35
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD OCT
PY 2014
VL 26
IS 5
BP 513
EP 526
DI 10.1007/s10882-013-9358-9
PG 14
WC Rehabilitation
SC Rehabilitation
GA AP1WY
UT WOS:000341864000002
ER
PT J
AU Grosberg, D
Charlop, M
AF Grosberg, Denise
Charlop, Marjorie
TI Teaching Persistence in Social Initiation Bids to Children with Autism
Through a Portable Video Modeling Intervention (PVMI)
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Autism; Social initiations; Technology; Video modeling
ID PERSPECTIVE-TAKING; SKILLS; SELF; REINFORCEMENT; TECHNOLOGY; BEHAVIORS;
SEQUENCES; SPEECH
AB Children with autism make and accept fewer social initiations and spend more time playing alone than with typical peers. Interventions that capitalize on technology have proven to be particularly successful in improving social initiation skills because they increase motivation, maintenance, and generalization of new social behaviors (Nikopoulos and Keenan 2004). In the present study, a portable video modeling intervention (PVMI) was used to teach persistence in social initiations to four children with autism. Two hypotheses were tested: 1) that children with autism would effectively learn persistence in social initiations to peers by using a PVMI and that this skill would 2) generalize and be maintained across people and settings. Results indicated that children with autism could learn persistence in social initiations through the PVMI. These behavior changes generalized across peers and settings and were maintained after a 1-month follow-up period. Results are discussed in terms of the effectiveness of interventions such as a PVMI as potential learning tools for children with autism.
C1 [Grosberg, Denise; Charlop, Marjorie] Claremont Mckenna Coll, Claremont, CA 91711 USA.
RP Charlop, M (reprint author), Claremont Mckenna Coll, Claremont, CA 91711 USA.
EM mcharlop@cmc.edu
CR American Psychiatric Association, 2004, DIAGN STAT MAN MENT
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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 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD OCT
PY 2014
VL 26
IS 5
BP 527
EP 541
DI 10.1007/s10882-013-9362-0
PG 15
WC Rehabilitation
SC Rehabilitation
GA AP1WY
UT WOS:000341864000003
ER
PT J
AU Pochon, R
Declercq, C
AF Pochon, Regis
Declercq, Christelle
TI Emotional Lexicon Understanding and Emotion Recognition: A Longitudinal
Study in Children with Down Syndrome
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Down syndrome; Intellectual disability; Emotion recognition; Emotional
lexicon; Emotional competence
ID FRAGILE-X-SYNDROME; FACIAL EXPRESSIONS; MENTAL-RETARDATION;
YOUNG-CHILDREN; PERCEPTION; LANGUAGE; AUTISM; ADOLESCENTS; PEOPLE; WORDS
AB Several studies have shown deficits in emotion recognition in children with Down syndrome (DS). However, most of these studies required the understanding of verbal labels of emotion in their instructions, which may have been a disadvantage for these children, given their common language difficulties. This study addressed this issue by investigating the abilities of children with DS to recognize emotion from emotional terms, using the same visual material as in a previous nonverbal study with which they had no difficulty. Their performance was compared to that of typically developing children (TD) and children with nonspecific intellectual disability (NSID) of the same developmental age, during a 3-year longitudinal follow-up. Results showed that the abilities of children with DS were significantly poorer and developed slower than those of TD children, but not children with NSID. These cross-sectional and longitudinal data tend to show that children with DS have a lack of understanding of emotional verbal labels. The implications of these findings for future emotion recognition studies in these children, notably the need to design nonverbal experiments using dynamic stimuli, are discussed. The consequences of a potential deficit affecting the emotional lexicon are also raised with a view to orienting therapeutic and educational support.
C1 [Pochon, Regis; Declercq, Christelle] Univ Reims, Lab C2S Cognit Sante Socialisat, EA 6291, F-51096 Reims, France.
RP Pochon, R (reprint author), Univ Reims, Lab C2S Cognit Sante Socialisat, EA 6291, 57 Rue Pierre Taittinger, F-51096 Reims, France.
EM regis.pochon@univ-reims.fr
CR Albanese O, 2010, J GENET PSYCHOL, V171, P101, DOI 10.1080/00221320903548084
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NR 39
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD OCT
PY 2014
VL 26
IS 5
BP 549
EP 563
DI 10.1007/s10882-014-9380-6
PG 15
WC Rehabilitation
SC Rehabilitation
GA AP1WY
UT WOS:000341864000005
ER
PT J
AU Achmadi, D
Sigafoos, J
van der Meer, L
Sutherland, D
Lancioni, GE
O'Reilly, MF
Hodis, F
Green, VA
McLay, L
Marschik, PB
AF Achmadi, Donna
Sigafoos, Jeff
van der Meer, Larah
Sutherland, Dean
Lancioni, Giulio E.
O'Reilly, Mark F.
Hodis, Flaviu
Green, Vanessa A.
McLay, Laurie
Marschik, Peter B.
TI Acquisition, Preference, and Follow-up Data on the Use of Three AAC
Options by Four Boys with Developmental Disability/Delay
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Augmentative and alternative communication; Developmental delay;
Acquisition; Preference; Maintenance; Manual signing; Picture exchange;
Speech-generating device
ID SPEECH-GENERATING DEVICES; AUTISM SPECTRUM DISORDERS; OF-THE-LITERATURE;
COMMUNICATION INTERVENTIONS; PICTURE EXCHANGE; ALTERNATIVE
COMMUNICATION; SELF-DETERMINATION; MANUAL SIGNS; CHILDREN; DISABILITIES
AB We compared how quickly four boys with developmental disability/delay learned to use manual signing (MS), picture exchange (PE), and a speech-generating device (SGD) to request the continuation of toy play. Opportunities to choose to use MS, PE, and SGD were included to determine if the boys showed a preference for using one of these options. Follow-up sessions occurred at 12, 15, and 18 months post-intervention. With intervention, three of the four participants learned to use each option, but one child only learned to use PE. Trials to criterion across children ranged from 22 to 28 for the SGD, from 12 to 60 for PE, and from 21 to 64 trials for MS. For the three participants who reached criterion with each AAC system, maintenance results were best for PE and SGD. Preference assessments during follow-up showed that participants most often chose the SGD, indicating a preference for that option. The findings suggest there may be value in assessing a child's preference for different AAC options as part of the post-intervention follow-up process.
C1 [Achmadi, Donna; Sigafoos, Jeff; van der Meer, Larah; Hodis, Flaviu; Green, Vanessa A.] Victoria Univ Wellington, Sch Educ Psychol, Wellington 6147, New Zealand.
[Sutherland, Dean; McLay, Laurie] Univ Canterbury, Sch Hlth Sci, Coll Educ, Christchurch 1, New Zealand.
[Lancioni, Giulio E.] Univ Bari, Dept Neurosci & Sense Organs, Bari, Italy.
[O'Reilly, Mark F.] Univ Texas Austin, Meadows Ctr Preventing Educ Risk, Austin, TX 78712 USA.
[Marschik, Peter B.] Med Univ Graz, Inst Physiol, Graz, Austria.
RP Sigafoos, J (reprint author), Victoria Univ Wellington, Sch Educ Psychol, POB 17-310, Wellington 6147, New Zealand.
EM jeff.sigafoos@vuw.ac.nz
CR Blischak D.M., 1997, AUGMENTATIVE ALTERNA, P38
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Bowker A., 2009, PERSPECTIVES AUGMENT, V18, P137, DOI DOI 10.1044/AAC18.4.137
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Duker P. C., 2004, ONE TO ONE TRAINING
Flores M, 2012, AUGMENT ALTERN COMM, V28, P74, DOI 10.3109/07434618.2011.644579
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Kennedy C, 2005, SINGLE CASE DESIGNS
Lang R, 2010, DEV NEUROREHABIL, V13, P153, DOI 10.3109/17518421003607597
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NR 46
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD OCT
PY 2014
VL 26
IS 5
BP 565
EP 583
DI 10.1007/s10882-014-9379-z
PG 19
WC Rehabilitation
SC Rehabilitation
GA AP1WY
UT WOS:000341864000006
ER
PT J
AU Dixon, MR
Carman, J
Tyler, PA
Whiting, SW
Enoch, MR
Daar, JH
AF Dixon, Mark R.
Carman, Josie
Tyler, Pamela A.
Whiting, Seth W.
Enoch, Mary Rachel
Daar, Jacob H.
TI PEAK Relational Training System for Children with Autism and
Developmental Disabilities: Correlations with Peabody Picture Vocabulary
Test and Assessment Reliability
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE ABA therapy; Discrete trial training; Verbal behavior therapy; Language
training
AB The present investigation sought to explore initial psychometric properties of the PEAK Relational Training System-Module 1: Direct Training for children with autism. Thirteen children diagnosed with autism or related disorders were exposed to an initial assessment designed to evaluate skill deficits within their repertoire, the Peabody Picture Vocabulary Test, and the Illinois Early Learning Standards Test. Additionally, staff performances were evaluated on reliability of delivery of the PEAK assessment. Results yielded significant positive correlations among the obtained PEAK assessment scores, the Peabody and the Standards assessments. Implications for evidence-based discrete trial training curricula are discussed.
C1 [Dixon, Mark R.; Carman, Josie; Whiting, Seth W.; Enoch, Mary Rachel; Daar, Jacob H.] So Illinois Univ, Carbondale, IL 62901 USA.
[Carman, Josie; Tyler, Pamela A.] Highland Community Unit Sch Dist 5, Highland, IL USA.
[Dixon, Mark R.] So Illinois Univ, Inst Rehabil, Behav Anal & Therapy Program, Carbondale, IL 62901 USA.
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EM mdixon@siu.edu
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Dixon M. R., 2014, PEAK RELATIONAL TRAI
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NR 17
TC 2
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD OCT
PY 2014
VL 26
IS 5
BP 603
EP 614
DI 10.1007/s10882-014-9384-2
PG 12
WC Rehabilitation
SC Rehabilitation
GA AP1WY
UT WOS:000341864000008
ER
PT J
AU Tzanakaki, P
Hastings, RP
Grindle, CF
Hughes, JC
Hoare, Z
AF Tzanakaki, Pagona
Hastings, Richard P.
Grindle, Corinna F.
Hughes, J. Carl
Hoare, Zoe
TI An Individualized Numeracy Curriculum for Children with Intellectual
Disabilities: A Single Blind Pilot Randomized Controlled Trial
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Intellectual disabilities; Mathematics; Numeracy curriculum
ID LEARNING-DISABILITIES; TEACHING MATHEMATICS; SCHOOL-STUDENTS;
METAANALYSIS; INSTRUCTION; PROGRAM; SKILLS
AB Research investigating structured, comprehensive numeracy curricula appropriate for children with Intellectual Disabilities (ID) is limited. We conducted a pilot study focused on an adaptation of the Maths Recovery program. Twenty four elementary school children with severe ID or autism were randomly allocated into the intervention and control groups. For 12 weeks, children in the intervention group received individualized numeracy teaching based on the adapted Maths Recovery curriculum, whereas children in the control group received "mathematics as usual" teaching. Pre- and post- intervention tests on standardized numeracy measures were conducted. Children were successfully recruited into the study, parents were willing for their child to be randomised to one of the arms of the study, and the vast majority of children were retained to follow-up. Analysis of data from outcome measures indicated that the Maths Recovery group made improvements at post-intervention in comparison to the control group. A follow-up test showed that gains were maintained 7 months after the end of the intervention. These pilot results support the case for a definitive research trial of the adapted Maths Recovery intervention.
C1 [Tzanakaki, Pagona; Grindle, Corinna F.; Hughes, J. Carl] Bangor Univ, Sch Psychol, Bangor LL57 2AS, Gwynedd, Wales.
[Hastings, Richard P.] Univ Warwick, Ctr Educ Dev Appraisal & Res, Coventry CV4 7AL, W Midlands, England.
[Hoare, Zoe] North Wales Org Randomised Trials Hlth & Social C, Bangor, Gwynedd, Wales.
RP Tzanakaki, P (reprint author), Bangor Univ, Sch Psychol, Brigantia Bldg,Penrallt Rd, Bangor LL57 2AS, Gwynedd, Wales.
EM pagonatzanakaki@hotmail.com
RI Hastings, Richard/D-9657-2013
OI Hastings, Richard/0000-0002-0495-8270
CR Arain M, 2010, BMC MED RES METHODOL, V10, DOI 10.1186/1471-2288-10-67
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NR 27
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD OCT
PY 2014
VL 26
IS 5
BP 615
EP 632
DI 10.1007/s10882-014-9387-z
PG 18
WC Rehabilitation
SC Rehabilitation
GA AP1WY
UT WOS:000341864000009
ER
PT J
AU Asadollahi, R
Oneda, B
Joset, P
Azzarello-Burri, S
Bartholdi, D
Steindl, K
Vincent, M
Cobilanschi, J
Sticht, H
Baldinger, R
Reissmann, R
Sudholt, I
Thiel, CT
Ekici, AB
Reis, A
Bijlsma, EK
Andrieux, J
Dieux, A
FitzPatrick, D
Ritter, S
Baumer, A
Latal, B
Plecko, B
Jenni, OG
Rauch, A
AF Asadollahi, Reza
Oneda, Beatrice
Joset, Pascal
Azzarello-Burri, Silvia
Bartholdi, Deborah
Steindl, Katharina
Vincent, Marie
Cobilanschi, Joana
Sticht, Heinrich
Baldinger, Rosa
Reissmann, Regina
Sudholt, Irene
Thiel, Christian T.
Ekici, Arif B.
Reis, Andre
Bijlsma, Emilia K.
Andrieux, Joris
Dieux, Anne
FitzPatrick, David
Ritter, Susanne
Baumer, Alessandra
Latal, Beatrice
Plecko, Barbara
Jenni, Oskar G.
Rauch, Anita
TI The clinical significance of small copy number variants in
neurodevelopmental disorders
SO JOURNAL OF MEDICAL GENETICS
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; DU-CHAT SYNDROME; DE-NOVO; INTELLECTUAL
DISABILITY; DEVELOPMENTAL DELAY; DELTA-CATENIN; CLEFT-PALATE; ARRAY CGH;
INTRAGENIC DELETIONS; MENTAL-RETARDATION
AB Background Despite abundant evidence for pathogenicity of large copy number variants (CNVs) in neurodevelopmental disorders (NDDs), the individual significance of genome-wide rare CNVs < 500 kb has not been well elucidated in a clinical context.
Methods By high-resolution chromosomal microarray analysis, we investigated the clinical significance of all rare non-polymorphic exonic CNVs sizing 1-500 kb in a cohort of 714 patients with undiagnosed NDDs.
Results We detected 96 rare CNVs < 500 kb affecting coding regions, of which 58 (60.4%) were confirmed. 6 of 14 confirmed de novo, one of two homozygous and four heterozygous inherited CNVs affected the known microdeletion regions 17q21.31, 16p11.2 and 2p21 or OMIM morbid genes (CASK, CREBBP, PAFAH1B1, SATB2; AUTS2, NRXN3, GRM8). Two further de novo CNVs affecting single genes (MED13L, CTNND2) were instrumental in delineating novel recurrent conditions. For the first time, we here report exonic deletions of CTNND2 causing low normal IQ with learning difficulties with or without autism spectrum disorder. Additionally, we discovered a homozygous out-of-frame deletion of ACOT7 associated with features comparable to the published mouse model. In total, 24.1% of the confirmed small CNVs were categorised as pathogenic or likely pathogenic (median size 130 kb), 17.2% as likely benign, 3.4% represented incidental findings and 55.2% remained unclear.
Conclusions These results verify the diagnostic relevance of genome-wide rare CNVs < 500 kb, which were found pathogenic in similar to 2% (14/714) of cases (1.1% de novo, 0.3% homozygous, 0.6% inherited) and highlight their inherent potential for discovery of new conditions.
C1 [Asadollahi, Reza; Oneda, Beatrice; Joset, Pascal; Azzarello-Burri, Silvia; Bartholdi, Deborah; Steindl, Katharina; Vincent, Marie; Cobilanschi, Joana; Baldinger, Rosa; Reissmann, Regina; Sudholt, Irene; Baumer, Alessandra; Rauch, Anita] Univ Zurich, Inst Med Genet, CH-8952 Schlieren, Switzerland.
[Sticht, Heinrich] Univ Erlangen Nurnberg, Inst Biochem, D-91054 Erlangen, Germany.
[Thiel, Christian T.; Ekici, Arif B.; Reis, Andre] Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany.
[Bijlsma, Emilia K.] Leiden Univ Med Ctr LUMC, Dept Clin Genet, Leiden, Netherlands.
[Andrieux, Joris] CHRU Lille, Hop Jeanne de Flandre, Inst Genet Med, F-59037 Lille, France.
[Dieux, Anne] CHRU Lille, Hop Jeanne de Flandre, Clin Genet Guy Fontaine, F-59037 Lille, France.
[FitzPatrick, David] Univ Edinburgh, MRC Human Genet Unit, MRC Inst Genet & Mol Med, Edinburgh, Midlothian, Scotland.
[Ritter, Susanne; Latal, Beatrice; Jenni, Oskar G.] Univ Childrens Hosp Zurich, Child Dev Ctr, Zurich, Switzerland.
[Plecko, Barbara] Univ Childrens Hosp Zurich, Div Child Neurol, Zurich, Switzerland.
RP Rauch, A (reprint author), Univ Zurich, Inst Med Genet, Wagistr 12, CH-8952 Schlieren, Switzerland.
EM anita.rauch@medgen.uzh.ch
RI Reis, Andre/D-2309-2009; Rauch, Anita/C-5568-2014; Thiel,
Christian/H-8964-2012
OI Reis, Andre/0000-0002-6301-6363; Rauch, Anita/0000-0003-2930-3163;
Thiel, Christian/0000-0003-3817-7277
FU Swiss National Science Foundation [SNF 320030_135669]; Forschungskredit
of the University of Zurich [54220201]; radiz-Rare Disease Initiative
Zurich, clinical research priority program, University of Zurich
FX We sincerely thank the affected individuals and their families for
participation and the DECIPHER Consortium for their collaboration. This
research was supported by grants from the Swiss National Science
Foundation (SNF 320030_135669), Forschungskredit of the University of
Zurich (grant number 54220201) and radiz-Rare Disease Initiative Zurich,
clinical research priority program, University of Zurich.
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NR 60
TC 2
Z9 2
PU BMJ PUBLISHING GROUP
PI LONDON
PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
SN 0022-2593
EI 1468-6244
J9 J MED GENET
JI J. Med. Genet.
PD OCT
PY 2014
VL 51
IS 10
BP 677
EP 688
DI 10.1136/jmedgenet-2014-102588
PG 12
WC Genetics & Heredity
SC Genetics & Heredity
GA AP5PS
UT WOS:000342131700006
PM 25106414
ER
PT J
AU Hinkka-Yli-Salomaki, S
Banerjee, PN
Gissler, M
Lampi, KM
Vanhala, R
Brown, AS
Sourander, A
AF Hinkka-Yli-Salomaki, Susanna
Banerjee, P. Nina
Gissler, Mika
Lampi, Katja M.
Vanhala, Raija
Brown, Alan S.
Sourander, Andre
TI The incidence of diagnosed autism spectrum disorders in Finland
SO NORDIC JOURNAL OF PSYCHIATRY
LA English
DT Article
DE Autism; Autism spectrum disorders; Epidemiology; Incidence; Register
study
ID PERVASIVE DEVELOPMENTAL DISORDERS; CHILDHOOD AUTISM; OLMSTED COUNTY;
TIME TRENDS; PREVALENCE; CHILDREN; UK; EPIDEMIOLOGY; MINNESOTA; REGISTRY
AB Background: Previous reports indicate an increase in incidence of autism spectrum disorders (ASD). Aims: First, to assess the incidence of diagnosed ASD in children born between 1996 and 1998, based on nationwide inpatient and outpatient register information. Second, to investigate the incidence rate over time of diagnosed ASD and specifically childhood autism, Asperger's syndrome and pervasive developmental disorder (PDD-NOS) in children born between 1987 and 1998. Methods: This is population-based cohort study with children born in Finland between 1 January 1987 and 31 December 2005; a total of more than 1.2 million children. Children were identified in the Finnish Hospital Discharge Register, and the reported diagnoses were based on the International Statistical Classification of Diseases (ICD-10, ICD-9). Results: The annual incidence rate of diagnosed ASD based on inpatient and outpatient register data was 53.7 per 10,000 (95% CI 50.4-57.2). Incidence was 82.6 per 10,000 in boys and 23.6 per 10,000 in girls, yielding a sex ratio (boys: girls) of 3.5: 1. We report an eightfold increase in the incidence rates in children of diagnosed ASD and specifically in childhood autism, Asperger's syndrome and PDD-NOS and born between 1987 and 1992 based on inpatient register information. Conclusions: Increased awareness of ASD, more precise diagnostic criteria and changes in practice for diagnosing autism may have had a substantial effect on the increased incidence of inpatient treated ASD cases from 1987 to 1992. Between 1992 and 1998, the incidence rate based on inpatient and outpatient service use remained rather stable.
C1 [Hinkka-Yli-Salomaki, Susanna; Gissler, Mika; Lampi, Katja M.; Brown, Alan S.; Sourander, Andre] Univ Turku, Dept Child Psychiat, Turku 20014, Finland.
[Banerjee, P. Nina; Brown, Alan S.] Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY USA.
[Gissler, Mika] Natl Inst Hlth & Welf, Dept Informat, Helsinki, Finland.
[Gissler, Mika] Nord Sch Publ Hlth, Gothenburg, Sweden.
[Vanhala, Raija] Helsinki Univ Cent Hosp, Dept Child Neurol, Helsinki, Finland.
[Sourander, Andre] Columbia Univ Coll Phys & Surg, New York State Psychiat Inst, Dept Psychiat, New York, NY 10032 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, USA; National Institute of Mental Health, USA
[1K02-MH65422]; National Institute of Environmental Health Sciences, USA
[1R01ES019004]
FX This study was supported by Autism Speaks, USA, by National Institute of
Mental Health, USA, grant 1K02-MH65422, and by National Institute of
Environmental Health Sciences, USA, grant 1R01ES019004.
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NR 47
TC 2
Z9 2
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 0803-9488
EI 1502-4725
J9 NORD J PSYCHIAT
JI Nord. J. Psychiatr.
PD OCT
PY 2014
VL 68
IS 7
BP 472
EP 480
DI 10.3109/08039488.2013.861017
PG 9
WC Psychiatry
SC Psychiatry
GA AP6SE
UT WOS:000342207100006
PM 24359461
ER
PT J
AU Pazey, BL
Gevarter, C
Hamrick, J
Rojeski, L
AF Pazey, Barbara L.
Gevarter, Cindy
Hamrick, Jennifer
Rojeski, Laura
TI Administrator views and knowledge of instructional practices for
students with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Review
DE Autism spectrum disorders; Administrator knowledge and attitudes; ASD
interventions; Instructional strategies
ID COMPREHENSIVE TREATMENT MODELS; TRAINING PARAPROFESSIONALS; CHILDREN;
EDUCATION; INCLUSION; TEACHERS; LEARNERS; BEHAVIOR; RECOMMENDATIONS;
INTERVENTIONS
AB This paper contains a review of eight studies that examined the views and knowledge base of administrators regarding intervention and instructional methods for students with autism spectrum disorders (ASDs). Administrators' views surrounding training and professional development in ASD instructional practices were also investigated. While administrators reported being knowledgeable about instructional practices, the need for a more formative evaluation of instructional knowledge combining self-report with observational methods of instructional knowledge was supported. Findings from the review point to added benefits to administrators when exposed to additional training in evidence-based practices for students with ASDs. Accordingly, administrators with a stronger knowledge of such practices may feel more prepared to act as instructional leaders. Research-to-practice gaps related to administrators' views and beliefs about interventions, utility of methods for different age groups, and effective training and implementation of methods obtained through additional out-of-classroom training time were also supported. The small number of studies and limitations surrounding survey methodology employed in all studies warrants further research in this area. Suggestions for future descriptive and intervention-based research are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Pazey, Barbara L.; Gevarter, Cindy; Hamrick, Jennifer; Rojeski, Laura] Univ Texas Austin, Dept Special Educ, Austin, TX 78712 USA.
[Pazey, Barbara L.] Univ Texas Austin, Dept Educ Adm, Austin, TX 78712 USA.
RP Pazey, BL (reprint author), Univ Texas Austin, Dept Special Educ, George I Sanchez Bldg SZB 374D, Austin, TX 78712 USA.
EM bpazey@austin.utexas.edu
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NR 82
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD OCT
PY 2014
VL 8
IS 10
BP 1253
EP 1268
DI 10.1016/j.rasd.2014.06.013
PG 16
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100001
ER
PT J
AU Stasolla, F
De Pace, C
Damiani, R
Di Leone, A
Albano, V
Perilli, V
AF Stasolla, Fabrizio
De Pace, Claudia
Damiani, Rita
Di Leone, Antonia
Albano, Vincenza
Perilli, Viviana
TI Comparing PECS and VOCA to promote communication opportunities and to
reduce stereotyped behaviors by three girls with Rett syndrome
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Rett syndrome; Augmentative and alternative communication; Developmental
disabilities; Indices of happiness; Quality of life; Stereotypies
ID PROFOUND MULTIPLE DISABILITIES; MICROSWITCH-BASED PROGRAMS; AUTISM
SPECTRUM DISORDERS; QUALITY-OF-LIFE; DEVELOPMENTAL-DISABILITIES;
ENVIRONMENTAL STIMULI; MOTOR DISABILITIES; KEYBOARD EMULATOR; SOCIAL
CONTACT; 2 BOYS
AB We compared PECS and VOCA intervention strategies to promote communication opportunities for three girls with Rett syndrome and severe to profound developmental disabilities. The first aim of the study was to assess the effectiveness of both aforementioned strategies by enhancing request and choices of preferred items by the participants involved to a caregiver. The second goal of the study was to assess the effects of the intervention program by reducing stereotyped behaviors (i.e. body rocking and hand movements). Finally, the third purpose was to carry out the indices of happiness and monitor quality of life concerning the participants exposed to the intervention program. The study was carried out according to an alternating treatments design with a final preference check phase for each participant. Results showed an increasing of independent requested and chosen items as well as of indices of happiness during intervention phases for all participants. Moreover, two of them chose VOCA strategy during preference checks phase, while the third one equally chose both strategies. Furthermore, a decreasing of stereotypies was observed during intervention phases for the three participants. Clinical, educational and psychological implications of the findings are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Stasolla, Fabrizio] Lega Filo Oro, Res Ctr, Molfetta, Italy.
[De Pace, Claudia; Damiani, Rita; Di Leone, Antonia; Albano, Vincenza] Univ Bari, Dept Educ Sci, I-70121 Bari, Italy.
[Perilli, Viviana] Lega Filo Oro, Res Ctr, Lesmo, Italy.
RP Stasolla, F (reprint author), Lega Filo Oro, Res Ctr, Molfetta, Italy.
EM f.stasolla@libero.it
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Stasolla F, 2014, RES AUTISM SPECT DIS, V8, P472, DOI 10.1016/j.rasd.2014.01.007
NR 46
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD OCT
PY 2014
VL 8
IS 10
BP 1269
EP 1278
DI 10.1016/j.rasd.2014.06.009
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100002
ER
PT J
AU Lang, R
van der Werff, M
Verbeek, K
Didden, R
Davenport, K
Moore, M
Lee, A
Rispoli, M
Machalicek, W
O'Reilly, M
Sigafoos, J
Lancioni, G
AF Lang, Russell
van der Werff, Marije
Verbeek, Katja
Didden, Robert
Davenport, Katy
Moore, Melissa
Lee, Allyson
Rispoli, Mandy
Machalicek, Wendy
O'Reilly, Mark
Sigafoos, Jeff
Lancioni, Giulio
TI Comparison of high and low preferred topographies of contingent
attention during discrete trial training
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Preference assessment; Attention; Discrete trial training
ID AUTISM SPECTRUM DISORDERS; OF-THE-LITERATURE; DESCRIPTIVE ANALYSIS;
PROBLEM BEHAVIOR; PREFERENCE; DISABILITIES; REINFORCERS; VALIDITY
AB We used the paired-stimulus (PS) and multiple-stimulus without replacement (MSWO) preference assessment procedures to identify high and low preferred topographies of attention for two children with autism spectrum disorders (ASD). Both preference assessment formats identified the same high and low preferred forms of attention. A reinforcer assessment implemented during discrete trial training demonstrated increased correct responding and reduced challenging behavior when the high preferred form of attention was the contingent reinforcer for both participants. These results replicate previous research demonstrating that children with ASD may have preferences for specific forms of social interaction and that highly preferred forms of attention may function as more potent reinforcers than less preferred forms. This study extends previous research by demonstrating correspondence between the MSWO and PS formats when applied to attention. Implications for practitioners and directions for future research are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Lang, Russell] Texas State Univ, Round Rock, TX USA.
[van der Werff, Marije; Verbeek, Katja; Didden, Robert] Radboud Univ Nijmegen, NL-6525 ED Nijmegen, Netherlands.
[Davenport, Katy; Moore, Melissa; Lee, Allyson] Texas State Univ, Clin Autism Res Evaluat & Support, Round Rock, TX 78665 USA.
[Rispoli, Mandy] Texas A&M Univ, College Stn, TX USA.
[Machalicek, Wendy] Univ Oregon, Eugene, OR 97403 USA.
[O'Reilly, Mark] Univ Texas Austin, Austin, TX 78712 USA.
[Sigafoos, Jeff] Victoria Univ Wellington, Wellington, New Zealand.
[Lancioni, Giulio] Univ Bari, I-70121 Bari, Italy.
RP Lang, R (reprint author), Texas State Univ San Marcos, Dept Curriculum & Instruct, 601 Univ Dr, San Marcos, TX 78666 USA.
EM russlang@txstate.edu
CR Cannella HI, 2005, RES DEV DISABIL, V26, P1, DOI 10.1016/j.ridd.2004.01.006
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NR 23
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD OCT
PY 2014
VL 8
IS 10
BP 1279
EP 1286
DI 10.1016/j.rasd.2014.06.012
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100003
ER
PT J
AU Cervantes, PE
Matson, JL
Adams, HL
Konst, MJ
AF Cervantes, Paige E.
Matson, Johnny L.
Adams, Hilary L.
Konst, Matthew J.
TI The relationship between cognitive development and conduct problems in
young children with autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE ASD; Conduct; Tantrums; BISCUIT; BDI-2; Cognitive
ID II DASH-II; SIDE-EFFECTS MEDS; INTELLECTUAL DISABILITY;
DIAGNOSTIC-ASSESSMENT; CHALLENGING BEHAVIORS; MENTAL-RETARDATION; MATSON
EVALUATION; FEEDING PROBLEMS; INFANT SCREEN; PDD-NOS
AB Individuals with ASD often demonstrate elevated rates of challenging behaviors, such as tantrums, aggression, and property destruction. The current study examined the relationship between cognitive abilities and conduct problem behaviors in 263 children aged 18 to 39 months. Cognitive development was measured utilizing the cognitive developmental quotient (DQ) on the Battelle Developmental Inventory, Second Edition (BDI-2). Participants were separated into two groups: (1) low cognitive DQgroup (cognitive DQ less than or equal to 70), and (2) typical cognitive DQgroup (cognitive DQgreater than 70). Conduct problems were assessed using the Tantrum/Conduct Behavior subscale of the Baby and Infant Screen for Children with aUtIsm Traits, Part 2 (BISCUIT-Part 2). Higher rates of overall conduct problem behaviors were observed in young children with ASD and typical cognitive development relative to children with low cognitive development. Comparisons of specific conduct behaviors indicated cognitive ability may be associated with particular presentations of conduct problems. Implications are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Cervantes, Paige E.; Matson, Johnny L.; Adams, Hilary L.; Konst, Matthew J.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Cervantes, PE (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM pcerva2@lsu.edu
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NR 62
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD OCT
PY 2014
VL 8
IS 10
BP 1287
EP 1294
DI 10.1016/j.rasd.2014.06.015
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100004
ER
PT J
AU Ozturk, Y
Riccadonna, S
Venuti, P
AF Ozturk, Yagmur
Riccadonna, Samantha
Venuti, Paola
TI Parenting dimensions in mothers and fathers of children with Autism
Spectrum Disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism Spectrum Disorder (ASD); Mothers and fathers; Parental stress;
Parental attitude; Parental mental health
ID PRESCHOOL-CHILDREN; YOUNG-CHILDREN; DOWN-SYNDROME; ACADEMIC-ACHIEVEMENT;
BEHAVIOR PROBLEMS; STRESS; PERCEPTIONS; COMPETENCE; IMPACT; MODEL
AB Rearing a child with Autism Spectrum Disorder (ASD) is a unique challenge for both parents. Previous studies addressed how mothers are affected by the challenges of raising a child with ASD, mostly in terms of stress pattern. In this study, we focused on comparisons between mothers and fathers of children with ASD in parental stress, attitude and mental health. We examined 99 parents of children with ASD using the Parenting Stress Index-Short Form, the Parental Style Questionnaire, the Self-Perceptions of the Parental Role and the Symptom Checklist-90-Revised. The results revealed the gender differences in the parental attitude and mental health. Mothers reported that they engaged in more social behaviors with their children than fathers. In addition mothers reported higher level of depression than fathers. No difference among parents emerged in the Parenting Stress Index-Short Form. The results of a multiple regression analysis revealed that parenting distress is associated with depression, balance of parents' diverse roles in their life and dysfunctional interaction between parents and children. These findings highlight both similarities and differences between mothers and fathers of children with ASD and the existence of a relationship between parental stress, mental health and attitude. Results suggest the importance of developing specific intervention programs which incorporate these fundamental parenting domains. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Ozturk, Yagmur; Venuti, Paola] Univ Trento, Dept Psychol & Cognit Sci, I-38086 Rovereto, Italy.
[Riccadonna, Samantha] FEM, Res & Innovat Ctr, Dept Computat Biol, San Michele All Adige, Italy.
RP Ozturk, Y (reprint author), Univ Trento, Dept Psychol & Cognit Sci, Via Matteo del Ben 5B, I-38086 Rovereto, Italy.
EM yagmur.ozturk@unitn.it
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NR 61
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD OCT
PY 2014
VL 8
IS 10
BP 1295
EP 1306
DI 10.1016/j.rasd.2014.07.001
PG 12
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100005
ER
PT J
AU Rieske, RD
Matson, JL
Beighley, JS
Williams, LW
Turygin, N
AF Rieske, Robert D.
Matson, Johnny L.
Beighley, Jennifer S.
Williams, Lindsey W.
Turygin, Nicole
TI Personal-social development differences in toddlers diagnosed with
autism spectrum disorder: DSM-IV-TR versus DSM-5
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE ASD; DSM-5; Personal social; Toddlers; Social skills
ID PROFOUND MENTAL-RETARDATION; ASPERGERS SYNDROME; CHILDREN; SKILLS;
BEHAVIORS; CRITERIA; INFANTS; ADULTS; PSYCHOPATHOLOGY; OUTCOMES
AB Recent changes in diagnostic criteria for autism spectrum disorders (ASD) has stimulated research comparing the differences between those who would no longer meet the criteria for an ASD and those who would according to DSM-5. Previously, researchers have shown that individuals who no longer meet the criteria still have severe deficits in several areas when compared to atypically developing controls. These challenges are often similar in severity when compared to those who retain their diagnosis. The current study sought to compare these groups on a measure of personal and social development using the Battelle Developmental Inventory, second edition (BDI-2). Results were similar to previous research showing that those in the DSM-5 group had the most severe impairments followed by the DSM-IV group and then atypically-developing peers. The participants who no longer met the new criteria (DSM-IV group) were significantly different from both comparison groups but more closely resembled the DSM-5 group. They exhibited severe deficits in areas of personal-social development. These findings support the idea that these individuals do have significant impairments similar to those who would retain their diagnosis and that treatments developed for those with ASD would be beneficial; however, with the new criteria these children may never receive these services. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Rieske, Robert D.; Matson, Johnny L.; Beighley, Jennifer S.; Williams, Lindsey W.; Turygin, Nicole] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Rieske, RD (reprint author), Louisiana State Univ, Dept Psychol, 236 Audubon Hall, Baton Rouge, LA 70803 USA.
EM rrieske@hotmail.com
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NR 50
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD OCT
PY 2014
VL 8
IS 10
BP 1307
EP 1315
DI 10.1016/j.rasd.2014.07.007
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100006
ER
PT J
AU Kercood, S
Grskovic, JA
Banda, D
Begeske, J
AF Kercood, Suneeta
Grskovic, Janice A.
Banda, Devender
Begeske, Jasmine
TI Working memory and autism: A review of literature
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Review
DE Autism spectrum disorders; Working memory; Auditory working memory;
Visiospatial working memory
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC
OBSERVATION SCHEDULE; SCHOOL-AGE-CHILDREN; SPECTRUM DISORDERS; EXECUTIVE
FUNCTION; ASPERGER-SYNDROME; CONTROLLED-TRIAL; WISC-IV; PERFORMANCE
AB Research studies that evaluated working memory with students with autism and other disorders were reviewed and summarized. Results suggest that persons with autism score lower on measures of working memory than do typical controls especially on tasks that require cognitive flexibility, planning, greater working memory load, and spatial working memory, and with increasing task complexity and in dual task conditions. Lower scores in verbal working memory were associated with greater problems in adaptive behavior and more restrictive and repetitive behavior. Children with autism were as likely as typical children to employ articulatory rehearsal (verbal WM). The format of WM tasks may determine whether or not performance is impaired. Implications for educational practice and future research are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Kercood, Suneeta] Butler Univ, Indianapolis, IN 46208 USA.
[Grskovic, Janice A.] Indiana Univ Northwest, Gary, IN 46408 USA.
[Banda, Devender] Texas Tech Univ, Lubbock, TX 79409 USA.
[Begeske, Jasmine] Purdue Univ, W Lafayette, IN 47907 USA.
RP Kercood, S (reprint author), Butler Univ, Coll Educ, 4600 Sunset Ave, Indianapolis, IN 46208 USA.
EM skercood@butler.edu
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NR 61
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD OCT
PY 2014
VL 8
IS 10
BP 1316
EP 1332
DI 10.1016/j.rasd.2014.06.011
PG 17
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100007
ER
PT J
AU Kuhlthau, K
Payakachat, N
Delahaye, J
Hurson, J
Pyne, JM
Kovacs, E
Tilford, JM
AF Kuhlthau, Karen
Payakachat, Nalin
Delahaye, Jennifer
Hurson, Jill
Pyne, Jeffrey M.
Kovacs, Erica
Tilford, J. Mick
TI Quality of life for parents of children with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Health-related quality of life; Parent; Parent well-being; Depression
ID HEALTH-CARE NEEDS; PSYCHIATRIC-DISORDERS; ASPERGER-SYNDROME;
NATIONAL-SURVEY; MEDICAL HOME; MOTHERS; EQ-5D; STRESS; FAMILY; STATES
AB This project describes health-related quality of life (HRQoL) of parents of children with autism spectrum disorders (ASDs) using mixed methods. Parents of children with ASDs (N = 224) reported on their HRQoL, depression, and caregiving burden using quantitative tools. HRQoL scores were slightly worse than from those in normative populations especially related to stress and mental health. For example, parents reported average HRQoL scores from SF-6D of 0.74, which was clinically significant lower than an average normative U.S. population. 40% of parents reported having clinical depression symptoms. Married parents reported lower depression symptoms than parents who were not. In addition, families with three or more children with special health care needs (CSHCN) reported lower HRQL and higher caregiving burden than families with less CSHCN. In the qualitative study, we conducted five focus groups to gain insight as to the reasons a child's ASD might influence a parent's HRQoL. Qualitative data further supports the notion that parental HRQoL was negatively influenced by their child's ASDs. Studies that seek to quantify the influence of ASDs and to assess the effect of interventions for children with ASDs may consider measuring the effects on family members as well. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Kuhlthau, Karen; Delahaye, Jennifer; Hurson, Jill] Massachusetts Gen Hosp, Ctr Child & Adolescent Hlth Policy, Boston, MA 02114 USA.
[Kuhlthau, Karen] Harvard Univ, Dept Pediat, Sch Med, Cambridge, MA 02138 USA.
[Payakachat, Nalin] Univ Arkansas Med Sci, Div Pharmaceut Evaluat & Policy, Coll Pharm, Little Rock, AR 72205 USA.
[Pyne, Jeffrey M.] Cent Arkansas Vet Healthcare Syst, Ctr Mental Hlth Outcomes Res, North Little Rock, AR 72114 USA.
[Kovacs, Erica] Div Child & Adolescent Psychiat, Columbia Dev Neuropsychiat Program, New York, NY 10019 USA.
[Tilford, J. Mick] Univ Arkansas Med Sci, Coll Publ Hlth 2226, Little Rock, AR 72205 USA.
RP Kuhlthau, K (reprint author), Massachusetts Gen Hosp, Ctr Child & Adolescent Hlth Policy, 100 Cambridge St,15th Floor, Boston, MA 02114 USA.
EM kkuhlthau@mgh.harvard.edu
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NR 64
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD OCT
PY 2014
VL 8
IS 10
BP 1339
EP 1350
DI 10.1016/j.rasd.2014.07.002
PG 12
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100009
ER
PT J
AU Harper-Hill, K
Copland, D
Arnott, W
AF Harper-Hill, Keely
Copland, David
Arnott, Wendy
TI Pathways to meaning: Written and spoken word priming in children with
ASD versus typically developing peers
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Semantics; Lexical access; Modality; Visual
support
ID AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; LEXICAL DECISION
TASK; DEVELOPING READERS; YOUNG-CHILDREN; ACCESS; MODALITY;
FACILITATION; RECOGNITION; INTEGRATION
AB Visual supports are widely utilized with children on the autism spectrum, however, the effect of visual versus auditory modality on language comprehension has not been directly investigated. To address this issue, we utilized a semantic priming paradigm in two experiments with 18 children with ASD and no language impairment and 14 children with typical development. In the first, cross-modal experiment with a spoken word prime, no priming effect was identified. In the second, uni-modal written word prime experiment, a three-way interaction was identified. Subsequent analysis revealed that priming occurred only in the younger participants with ASD. These results are discussed in terms of the cross- and uni-modal demands of the two experiments and in light of lexical processing of spoken and written words within a developmental framework. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Harper-Hill, Keely; Copland, David] Univ Queensland, Clin Res Ctr, Brisbane, Qld 4029, Australia.
[Harper-Hill, Keely; Copland, David; Arnott, Wendy] Univ Queensland, Sch Hlth & Rehabil, Brisbane, Qld 4072, Australia.
RP Harper-Hill, K (reprint author), Univ Queensland, Clin Res Ctr, Level 3,Bldg 71-918 RBWH Campus, Brisbane, Qld 4029, Australia.
EM keely.harperhill@qut.edu.au; d.copland@uq.edu.au; w.arnott@uq.edu.au
RI Copland, David/F-1409-2010
OI Copland, David/0000-0002-2257-4270
CR Australian Bureau of Statistics, 2006, 2033 0 55 001 CENSUS
Australian Bureau of Statistics, 2008, 2033 0 55 001 CENSUS
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Toichi M, 2001, J AUTISM DEV DISORD, V31, P483, DOI 10.1023/A:1012216925216
Tse CS, 2007, J EXP PSYCHOL LEARN, V33, P1143, DOI 10.1037/0278-7393.33.6.1143
Van Overschelde JP, 2004, J MEM LANG, V50, P289, DOI 10.1016/j.jml.2003.10.003
NR 68
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD OCT
PY 2014
VL 8
IS 10
BP 1351
EP 1363
DI 10.1016/j.rasd.2014.07.004
PG 13
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100010
ER
PT J
AU Su, Y
Jin, Y
Wan, GB
Zhang, JS
Su, LY
AF Su, Yi (Esther)
Jin, Yu
Wan, Guo-Bin
Zhang, Ji-Shui
Su, Lin-Yan
TI Interpretation of wh-words in Mandarin-speaking high-functioning
children with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Language acquisition; Wh-words; Prosody;
Semantics; Mandarin Chinese
ID ASPERGER-SYNDROME; LANGUAGE-ACQUISITION; DOWNWARD ENTAILMENT;
YOUNG-CHILDREN; PROSODY; CHINESE; QUESTIONS; AMBIGUITY; COMPREHENSION;
ADOLESCENTS
AB Mandarin wh-words shenme 'what' and shei 'who' can convey both question readings and statement readings, a distinction of which is subject to intonation cues (rising intonation vs. level intonation) in ambiguous sentences, or is influenced by semantic contexts in unambiguous sentences. In this study, we investigated the interpretation of wh-words in 4-15-year-old Mandarin-speaking high-functioning children with autism spectrum disorders (ASD), as a comparison to typically developing (TD) children. The results showed that older children with ASD demonstrated unimpaired knowledge of the access to both readings, either by using intonation cues in ambiguous sentences or via semantic contexts in unambiguous sentences. However, compared to TD controls and older children with ASD, younger children with ASD appeared to have more difficulties with accessing the statement readings of these wh-words, though they had no problems with the question readings. To sum up, the experimental findings demonstrated children with ASD's relative strengths in understanding these linguistic properties specific to the interpretation of the Mandarin wh-words, though a complete capture of this knowledge is subject to a developmental effect. We discussed the results from the perspective the contribution the language faculty makes to language acquisition in children with ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Su, Yi (Esther)] Cent S Univ, Sch Foreign Languages, Inst Appl Linguist, Changsha 410083, Hunan, Peoples R China.
[Su, Yi (Esther); Su, Lin-Yan] Cent S Univ, Mental Hlth Inst, Natl Technol Inst Psychiat, Key Lab Psychiat & Mental Hlth Hunan Prov,Xiangya, Changsha 410011, Hunan, Peoples R China.
[Jin, Yu] Sun Yat Sen Univ, Sch Publ Hlth, Fac Maternal & Child Hlth, Guangzhou 510080, Guangdong, Peoples R China.
[Wan, Guo-Bin] Shenzhen Maternal & Child Hlth Care Hosp, Dept Child Psychiat, Shenzhen 518048, Guangdong, Peoples R China.
[Zhang, Ji-Shui] Beijing Childrens Hosp, Dept Neurol, Beijing 100045, Peoples R China.
RP Su, LY (reprint author), Second Xiangya Hosp, Mental Hlth Inst, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R China.
EM sy-esther@hotmail.com; jinyu@mail.sysu.edu.cn; gbw1978@aliyun.com;
zhangjishui@163.com; su-linyan@hotmail.com
CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th
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[张厚粲 Zhang Houcan], 2009, [心理科学, Psychological Science], V32, P1177
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NR 59
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD OCT
PY 2014
VL 8
IS 10
BP 1364
EP 1372
DI 10.1016/j.rasd.2014.07.008
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100011
ER
PT J
AU McGrew, JH
Keyes, ML
AF McGrew, John H.
Keyes, Melissa L.
TI Caregiver stress during the first year after diagnosis of an Autism
Spectrum Disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Caregiver burden; Marital adjustment; Autism Spectrum Disorders;
Diagnosis; Longitudinal
ID DOUBLE ABCX MODEL; SOCIAL SUPPORT; PARENTING STRESS; INTELLECTUAL
DISABILITY; STRAIN QUESTIONNAIRE; DYADIC ADJUSTMENT; COPING STRATEGIES;
FAMILY ADJUSTMENT; BEHAVIOR PROBLEMS; ASPERGER-SYNDROME
AB Caregiver burden and marital adjustment of mothers of children diagnosed with Autism Spectrum Disorder (ASD) were assessed at baseline, i.e., within six months of diagnosis (n = 79), and again 12 months later (n = 65), using predictors from the double ABCX family adaptation model, e.g., life demands, social support, appraisal, coping. Although there were no changes over time in burden or marital adjustment, participants reported increased positive appraisals of having a child with autism, increased support from providers and decreased use of problem focused coping. Cross-sectionally at Time 2, hypothesized predictors of marital adjustment and caregiver burden derived from the literature and from stress and coping theory (Lazarus & Folkman, 1984) were largely confirmed. Longitudinally, after adjusting for baseline levels in the multiple regressions, better marital adjustment at 12 months was associated with changes over time in three predictor variables: decreased negative appraisal, decreased pile-up stress, and increased general social support. Predictors of increased caregiver burden at 12 months, after adjusting for baseline levels, were increased negative appraisal, increased avoidant coping and decreased problem focused coping. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [McGrew, John H.; Keyes, Melissa L.] Indiana Univ Purdue Univ, Dept Psychol, Indianapolis, IN 46202 USA.
RP McGrew, JH (reprint author), Indiana Univ Purdue Univ, Dept Psychol, 402 N Blackford St,LD124, Indianapolis, IN 46202 USA.
EM jmcgrew@iupui.edu; Melissa.l.keyes@gmail.com
CR APA, 2013, DIAGNOSTIC AND STATI
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NR 80
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD OCT
PY 2014
VL 8
IS 10
BP 1373
EP 1385
DI 10.1016/j.rasd.2014.07.011
PG 13
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100012
ER
PT J
AU Wu, CL
Tseng, LP
An, CP
Chen, HC
Chan, YC
Shih, CI
Zhuo, SL
AF Wu, Ching-Lin
Tseng, Lei-Pin
An, Chih-Pei
Chen, Hsueh-Chih
Chan, Yu-Chen
Shih, Chen-I
Zhuo, Shu-Ling
TI Do individuals with autism lack a sense of humor? A study of humor
comprehension, appreciation, and styles among high school students with
autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Humor comprehension; Humor appreciation; Humor style
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; VERBAL HUMOR; QUESTIONNAIRE;
FMRI; ADULTS; MIND
AB Humor helps to build interpersonal bonds and allows individuals to feel closer. Previous research has generally claimed that individuals with autism have difficulty with interpersonal communication and social contacts, but there has been no such consensus regarding the sense of humor among individuals with autism. To address this issue, the present study aimed to compare the comprehension of, appreciation for, and preferred styles of humor between students with and without autism. The samples consisted of 177 high school students with autism and 177 control high school students. Every participant was within the normal range of intelligence. The gender ratio and age ratio of the two groups were maintained through pairwise sampling. The research tools were a questionnaire regarding the comprehension of and appreciation for nonsense and incongruity-resolution jokes, and the Humor Styles Questionnaire. The results show that the students with autism did not comprehend the nonsense jokes and incongruity-resolution jokes as well as the control students did, but they felt greater enjoyment when reading nonsense jokes. The students with autism preferred the nonsense jokes which is featured of less logical reasoning and using homophones for double-meaning. The tendencies toward affiliative humor, self-enhancing humor, and self-defeating humor among the students with autism were not as strong as those among the control students. Only the tendency toward aggressive humor was equal between two groups, showing that the students with autism still have sense of humor but tend to use hostile humor style. It is suggested to investigate the tendency of hostile humor in people with autism, and to provide them with affiliative humor to break the interpersonal stalemate experienced by individuals with autism. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Wu, Ching-Lin; Tseng, Lei-Pin; An, Chih-Pei; Chen, Hsueh-Chih; Shih, Chen-I] Natl Taiwan Normal Univ, Dept Educ Psychol & Counseling, Taipei, Taiwan.
[Chan, Yu-Chen] Natl Tsing Hua Univ, Inst Learning Sci, Hsinchu, Taiwan.
[Zhuo, Shu-Ling] Fu Jen Catholic Univ, Dept Clin Psychol, Taipei, Taiwan.
RP Chen, HC (reprint author), Natl Taiwan Normal Univ, Dept Educ Psychol & Counseling, Taipei, Taiwan.
EM chcjyh@gmail.com
CR American Psychiatric Association, 2013, DIAGNOSTIC AND STATI
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Zand J., 1999, SMART MEDICINE FOR H
NR 35
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD OCT
PY 2014
VL 8
IS 10
BP 1386
EP 1393
DI 10.1016/j.rasd.2014.07.006
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100013
ER
PT J
AU Wright, K
Kelley, E
Poulin-Dubois, D
AF Wright, Kristyn
Kelley, Elizabeth
Poulin-Dubois, Diane
TI Schematic and realistic biological motion identification in children
with high-functioning Autism Spectrum Disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism Spectrum Disorder; Animacy; Biological motion
ID PERVASIVE DEVELOPMENTAL DISORDERS; TYPICALLY DEVELOPING-CHILDREN; GOAL
ATTRIBUTION; YOUNG-CHILDREN; PERCEPTION; RECOGNITION; INFANTS;
INDIVIDUALS; CAUSALITY; DISPLAYS
AB Research investigating biological motion perception in children with ASD has revealed conflicting findings concerning whether impairments in biological motion perception exist. The current study investigated how children with high-functioning ASD (HF-ASD) performed on two tasks of biological motion identification: a novel schematic motion identification task and a point-light biological motion identification task. Twenty-two HF-ASD children were matched with 21 TD children on gender, non-verbal mental, and chronological, age (M years = 6.72). On both tasks, HF-ASD children performed with similar accuracy as TO children. Across groups, children performed better on animate than on inanimate trials of both tasks. These findings suggest that identification of both realistic and schematic biological motion is unimpaired in children with HF-ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Wright, Kristyn; Poulin-Dubois, Diane] Concordia Univ, Dept Psychol, Montreal, PQ, Canada.
[Kelley, Elizabeth] Queens Univ, Dept Psychol, Kingston, ON K7L 3N6, Canada.
RP Wright, K (reprint author), Concordia Univ, Dept Psychol, Montreal, PQ, Canada.
EM kr_wrigh@live.concordia.ca
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NR 67
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD OCT
PY 2014
VL 8
IS 10
BP 1394
EP 1404
DI 10.1016/j.rasd.2014.07.005
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100014
ER
PT J
AU Weng, PL
Bouck, EC
AF Weng, Pei-Lin
Bouck, Emily C.
TI Using video prompting via iPads to teach price comparison to adolescents
with autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Price comparison; Functional mathematics; Video prompting; Tablet
computer; iPad (R)
ID DEVELOPMENTAL-DISABILITIES; INTELLECTUAL DISABILITY; STUDENTS; SKILLS;
INTERVENTION; INDIVIDUALS; GROCERY
AB Price comparison is a functional mathematics skill commonly taught to secondary students with autism and intellectual disability to increase independence; yet, a lack of evidence-based practice in teaching price comparison exists. The purpose of this study was to examine the effectiveness of video prompting to teach price comparison using an adapted number line. A single-subject, multiprobe, multiple baseline design study was employed across three secondary students with autism. The results showed two out of three students benefited from video prompting presented on an iPad to complete price comparison tasks during the in-class simulation and the grocery store settings. Of the three students, one student completed price comparison tasks solely from video prompting and the other two students required video prompting in conjunction with the system of most-to-least prompts. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Weng, Pei-Lin] William Paterson Univ, Dept Special Educ & Counseling, Wayne, NJ 07470 USA.
[Bouck, Emily C.] Michigan State Univ, Dept Counseling Educ Psychol & Special Educ, E Lansing, MI 48824 USA.
RP Weng, PL (reprint author), 1101 S State St,Apt 1107, Chicago, IL 60605 USA.
EM itat.sped@gmail.com
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NR 32
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD OCT
PY 2014
VL 8
IS 10
BP 1405
EP 1415
DI 10.1016/j.rasd.2014.06.014
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100015
ER
PT J
AU Maras, KL
Wimmer, MC
Robinson, EJ
Bowler, DM
AF Maras, Katie L.
Wimmer, Marina C.
Robinson, Elizabeth J.
Bowler, Dermot M.
TI Mental imagery scanning in autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Mental imagery; Scanning; Navigation;
Visuo-spatial processing; Working memory
ID EPISODIC FUTURE THINKING; HIGH-FUNCTIONING ADULTS; SPATIAL
WORKING-MEMORY; WEAK CENTRAL COHERENCE; VISUAL IMAGES; LOCAL BIAS; MIND;
INDIVIDUALS; PERCEPTION; PERFORMANCE
AB Navigational impairments have previously been reported in autism spectrum disorder (ASD). The present study examined the ability of individuals with ASD to generate and scan their mental image of a previously viewed map. Twenty-one ASD adults and 20 age- and IQ-matched comparison adults memorised a map of a fictitious island containing a number of landmarks. They then mentally imagined the map and were timed as they imagined a character walking between the various landmarks. Consistent with previous mental imagery research with typical individuals, there was a linear relationship between the time that participants took to mentally scan between the landmarks and the actual distance between the landmarks on the picture, and this was the case for both typical and ASD participants. ASD and comparison participants' mental image scanning times were both also influenced by misleading signposts in the picture that indicated different distances between landmarks, thus providing evidence that their mental images were penetrable by top-down information. Although ASD and comparison participants showed very similar mental imagery scanning performance, verbal IQ and working memory were significantly and positively associated with image scanning performance for the ASD, but not the comparison group. This finding furthers the notion of a compensatory reliance on different strategies in ASD to achieve similar surface performance to individuals from the general population. Findings have practical implications for supporting navigation strategies in ASD. (C) 2014 The Authors. Published by Elsevier Ltd.
C1 [Maras, Katie L.] Univ Bath, Bath BA2 7AY, Avon, England.
[Wimmer, Marina C.] Univ Plymouth, Plymouth PL4 8AA, Devon, England.
[Robinson, Elizabeth J.] Univ Warwick, Coventry CV4 7AL, W Midlands, England.
[Bowler, Dermot M.] City Univ London, London, England.
RP Maras, KL (reprint author), Univ Bath, Bath BA2 7AY, Avon, England.
EM k.l.maras@bath.ac.uk
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American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 53
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD OCT
PY 2014
VL 8
IS 10
BP 1416
EP 1423
DI 10.1016/j.rasd.2014.07.003
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100016
ER
PT J
AU Taylor, MJ
Charman, T
Robinson, EB
Hayiou-Thomas, ME
Happe, F
Dale, PS
Ronald, A
AF Taylor, Mark J.
Charman, Tony
Robinson, Elise B.
Hayiou-Thomas, Marianna E.
Happe, Francesca
Dale, Philip S.
Ronald, Angelica
TI Language and Traits of Autism Spectrum Conditions: Evidence of Limited
Phenotypic and Etiological Overlap
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
LA English
DT Article
DE autism; receptive language; twin study
ID CAST CHILDHOOD ASPERGER; SUSCEPTIBILITY GENE; TWIN DATA; IMPAIRMENT;
DISORDERS; POPULATION; CHILDREN; ASSOCIATION; MATHEMATICS; COMORBIDITY
AB Language difficulties have historically been viewed as integral to autism spectrum conditions (ASC), leading molecular genetic studies to consider whether ASC and language difficulties have overlapping genetic bases. The extent of genetic, and also environmental, overlap between ASC and language is, however, unclear. We hence conducted a twin study of the concurrent association between autistic traits and receptive language abilities. Internet-based language tests were completed by approximate to 3,000 pairs of twins, while autistic traits were assessed via parent ratings. Twin model fitting explored the association between these measures in the full sample, while DeFries-Fulker analysis tested these associations at the extremes of the sample. Phenotypic associations between language ability and autistic traits were modest and negative. The degree of genetic overlap was also negative, indicating that genetic influences on autistic traits lowered language scores in the full sample (mean genetic correlation=-0.13). Genetic overlap was also low at the extremes of the sample (mean genetic correlation=0.14), indicating that genetic influences on quantitatively defined language difficulties were largely distinct from those on extreme autistic traits. Variation in language ability and autistic traits were also associated with largely different nonshared environmental influences. Language and autistic traits are influenced by largely distinct etiological factors. This has implications for molecular genetic studies of ASC and understanding the etiology of ASC. Additionally, these findings lend support to forthcoming DSM-5 changes to ASC diagnostic criteria that will see language difficulties separated from the core ASC communication symptoms, and instead listed as a clinical specifier. (c) 2014 Wiley Periodicals, Inc.
C1 [Taylor, Mark J.; Ronald, Angelica] Univ London, Genes Environm Lifespan Lab, Ctr Brain & Cognit Dev, Dept Psychol Sci, London WC1E 7JL, England.
[Charman, Tony] Kings Coll London, Dept Psychol, Inst Psychiat, London WC2R 2LS, England.
[Robinson, Elise B.] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA.
[Robinson, Elise B.] Harvard Univ, Sch Med, Dept Med, Cambridge, MA 02138 USA.
[Hayiou-Thomas, Marianna E.] Univ York, Dept Psychol, York YO10 5DD, N Yorkshire, England.
[Happe, Francesca] Kings Coll London, MRC Social Genet & Dev Psychiat Ctr, Inst Psychiat, London WC2R 2LS, England.
[Dale, Philip S.] Univ New Mexico, Dept Speech & Hearing Sci, Albuquerque, NM 87131 USA.
RP Taylor, MJ (reprint author), Univ London, Sch Psychol Sci, Ctr Brain, Genes Environm Lifespan Lab, 32 Torrington Sq, London WC1E 7JL, England.
EM mj.taylor@bbk.ac.uk
RI Ronald, Angelica/C-7812-2009; Dale, Philip/A-2254-2009
OI Ronald, Angelica/0000-0002-9576-2176; Dale, Philip/0000-0002-7697-8510
FU UK Medical Research Council [G0901245 G0500079]; Medical Research
Council; Economic and Social Research Council
FX Grant sponsor: UK Medical Research Council; Grant number: G0901245
G0500079; Grant sponsor: Medical Research Council and Economic and
Social Research Council.
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NR 54
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4841
EI 1552-485X
J9 AM J MED GENET B
JI Am. J. Med. Genet. B
PD OCT
PY 2014
VL 165
IS 7
BP 587
EP 595
DI 10.1002/ajmg.b.32262
PG 9
WC Genetics & Heredity; Psychiatry
SC Genetics & Heredity; Psychiatry
GA AP3MB
UT WOS:000341979000006
PM 25088445
ER
PT J
AU Cohen-Silver, JH
Muskat, B
Ratnapalan, S
AF Cohen-Silver, Justine Heather
Muskat, Barbara
Ratnapalan, Savithiri
TI Autism in the Emergency Department
SO CLINICAL PEDIATRICS
LA English
DT Article
DE autism; emergency department; paediatric
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; CHILDREN;
PREVALENCE; HEALTH
AB Background. This is a retrospective chart review of autistic patients presenting to the emergency department (ED) in a tertiary care pediatric center during the year 2011. Results. There were 160 ED visits by 130 patients, 25% of visits were repeated, and 20% were admitted to the hospital. There were 126 (79%) male and 34 (21%) female patients mean age of 12 years, 79% had comorbid health conditions. Forty percent were CTAS 2 (Canadian Triage Acuity Score) acuity, 42% of visits were CTAS 3 acuity, and 7% rated their pain as severe. Visits were for behavior (10%), neurological concern (13%), 3% dental related, and the remainder were for gastrointestinal infections and other complaints. Average length of stay was 6 hours 21 minutes, with 2-hour wait to start assessment with physician. Conclusions. Autism is a prevalent diagnosis and patients with autism are accessing the ED. We hope to use these demographic findings to better serve these patients and their families.
C1 [Cohen-Silver, Justine Heather; Muskat, Barbara; Ratnapalan, Savithiri] Hosp Sick Children, Toronto, ON M5G 1X8, Canada.
[Ratnapalan, Savithiri] Dalla Lana Sch Publ Hlth, Toronto, ON, Canada.
[Ratnapalan, Savithiri] Univ Toronto, Toronto, ON, Canada.
RP Cohen-Silver, JH (reprint author), Hosp Sick Children, 555 Univ Ave, Toronto, ON M5G 1X8, Canada.
EM justine.cohen@mail.utoronto.ca
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NR 23
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0009-9228
EI 1938-2707
J9 CLIN PEDIATR
JI Clin. Pediatr.
PD OCT
PY 2014
VL 53
IS 12
BP 1134
EP 1138
DI 10.1177/0009922814540983
PG 5
WC Pediatrics
SC Pediatrics
GA AP2CS
UT WOS:000341880700002
PM 25031320
ER
PT J
AU Freitas, BCG
Trujillo, CA
Carromeu, C
Yusupova, M
Herai, RH
Muotri, AR
AF Freitas, Beatriz C. G.
Trujillo, Cleber A.
Carromeu, Cassiano
Yusupova, Marianna
Herai, Roberto H.
Muotri, Alysson R.
TI Stem cells and modeling of autism spectrum disorders
SO EXPERIMENTAL NEUROLOGY
LA English
DT Review
DE Autism spectrum disorders; Stem cells; Induced pluripotent stem cells;
Animal model; Fragile X syndrome; Rett syndrome; Angelman syndrome;
Timothy syndrome; Genomic editing
ID FRAGILE-X-SYNDROME; ZINC-FINGER NUCLEASES; FMR1 KNOCKOUT MICE; COPY
NUMBER VARIATION; LONG-TERM POTENTIATION; IPSC-DERIVED NEURONS; DE-NOVO
MUTATIONS; RETT-SYNDROME; MOUSE MODEL; MENTAL-RETARDATION
AB Human neurons, generated from reprogrammed somatic cells isolated from live patients, bring a new perspective on the understanding of Autism Spectrum Disorders (ASD). The new technology can nicely complement other models for basic research and the development of therapeutic compounds aiming to revert or ameliorate the condition. Here, we discuss recent advances on the use of stem cells and other models to study ASDs, as well as their limitations, implications and future perspectives. (C) 2012 Elsevier Inc. All rights reserved.
C1 [Freitas, Beatriz C. G.; Trujillo, Cleber A.; Carromeu, Cassiano; Yusupova, Marianna; Herai, Roberto H.; Muotri, Alysson R.] Univ Calif San Diego, Sch Med, Dept Pediat,Stem Cell Program, Rady Childrens Hosp San Diego,Dept Cellular & Mol, La Jolla, CA 92093 USA.
RP Muotri, AR (reprint author), Univ Calif San Diego, Sch Med, Dept Pediat,Stem Cell Program, Rady Childrens Hosp San Diego,Dept Cellular & Mol, MC 0695, La Jolla, CA 92093 USA.
EM muotri@ucsd.edu
FU California Institute for Regenerative Medicine (CIRM) [TR2-01814];
National Institutes of Health through the NIH Director's New Innovator
Award Program [1-DP2-OD006495-01, P01 NICHD033113, R01 NH094753-02,
1R21MH093954-01A1]; Emerald Foundation
FX The work was supported by grants from the California Institute for
Regenerative Medicine (CIRM) TR2-01814, the National Institutes of
Health through the NIH Director's New Innovator Award Program,
1-DP2-OD006495-01, P01 NICHD033113, R01 NH094753-02, 1R21MH093954-01A1
and the Emerald Foundation. Beatriz Freitas is a Pew Latin America
Fellow and Cleber Trujillo is a fellow from the Roche Postdoc Program
(F. Hoffmann-La Roche). We would like to thank Thanathom Chailangkarn
for the figure and Lisa Stefanacci for critical comments on the
manuscript. This is a brief review on the fast growing field of disease
modeling, we apologize for the omission of important work from
colleagues that could not be described or cited here.
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NR 156
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 0014-4886
EI 1090-2430
J9 EXP NEUROL
JI Exp. Neurol.
PD OCT
PY 2014
VL 260
SI SI
BP 33
EP 43
DI 10.1016/j.expneurol.2012.09.017
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AP2JH
UT WOS:000341898000005
PM 23036599
ER
PT J
AU Vogan, V
Lake, JK
Weiss, JA
Robinson, S
Tint, A
Lunsky, Y
AF Vogan, Vanessa
Lake, Johanna K.
Weiss, Jonathan A.
Robinson, Suzanne
Tint, Ami
Lunsky, Yona
TI Factors Associated with Caregiver Burden Among Parents of Individuals
with ASD: Differences Across Intellectual Functioning
SO FAMILY RELATIONS
LA English
DT Article
DE autism spectrum disorder; intellectual disability; caregiver burden;
Canada; mental health; parents; service system
ID AUTISM SPECTRUM DISORDERS; SOCIAL COMMUNICATION QUESTIONNAIRE;
MENTAL-RETARDATION; YOUNG-ADULTS; DEFICIT/HYPERACTIVITY DISORDER;
DEVELOPMENTAL-DISABILITIES; MARITAL SATISFACTION; RAISING CHILDREN;
MOTHERS; ADOLESCENTS
AB Symptoms of autism spectrum disorder (ASD) persist into adolescence and adulthood, when access to health services and supports become difficult. Consequently, most adolescents and adults with ASD remain reliant on their families for support, often resulting in caregiver burden among parents. This study aims to investigate factors associated with burden in parents of adolescents and young adults with ASD, and to understand how these factors differ across varying levels of intellectual functioning. Of the 297 parents sampled, ASD severity, externalizing behaviors, medical comorbidity, and parent age predicted burden in parents of adolescents and young adults with ASD and an intellectual disability (ID), whereas an inability to pay for services predicted burden in parents of individuals with ASD and no ID. Factors associated with caregiver burden differed among individuals with and without ID and were not limited to symptom severity or mental health problems, but also extended to system factors.
C1 [Vogan, Vanessa; Lake, Johanna K.; Lunsky, Yona] Ctr Addict & Mental Hlth, Dual Diag Program, Toronto, ON M5V 2B4, Canada.
[Vogan, Vanessa] Ontario Inst Studies Educ, Toronto, ON, Canada.
[Lake, Johanna K.; Lunsky, Yona] Univ Toronto, Toronto, ON M5S 1A1, Canada.
[Weiss, Jonathan A.; Robinson, Suzanne; Tint, Ami] York Univ, Dept Psychol, Toronto, ON M3J 1PE, Canada.
RP Vogan, V (reprint author), Ctr Addict & Mental Hlth, Dual Diag Program, 501 Queen St West, Toronto, ON M5V 2B4, Canada.
EM Yona.Lunsky@camh.ca
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NR 79
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0197-6664
EI 1741-3729
J9 FAM RELAT
JI Fam. Relat.
PD OCT
PY 2014
VL 63
IS 4
BP 554
EP 567
DI 10.1111/fare.12081
PG 14
WC Family Studies; Social Work
SC Family Studies; Social Work
GA AP0QT
UT WOS:000341768300009
ER
PT J
AU Heitzer, AM
Job, MA
Pandit, NK
Valdovinos, MG
AF Heitzer, Andrew M.
Job, Meredith A.
Pandit, Nivedita K.
Valdovinos, Maria G.
TI Should Clinical Trial Research of Psychotropic Medication in Autism
Control for Gastrointestinal Symptoms?
SO JOURNAL OF CLINICAL PHARMACOLOGY
LA English
DT Editorial Material
DE autism; gastrointestinal symptoms; psychotropic medication
ID SPECTRUM DISORDERS; DRUG ABSORPTION; CHILDREN; BIOAVAILABILITY;
ASSOCIATION; FAMILIES; THERAPY; DISEASE; GENES; BRAIN
AB Recent research has established that many children and adult diagnosed with autism experience gastrointestinal symptoms. Furthermore, research has demonstrated that gastrointestinal symptoms can impact drug availability and absorption. In this paper we explore the presence of gastrointestinal symptoms in autism and put forth a call for a formal evaluation of the potential relationship between gastrointestinal symptoms and psychotropic medication effectiveness in individuals with autism.
C1 [Heitzer, Andrew M.; Job, Meredith A.; Valdovinos, Maria G.] Drake Univ, Dept Psychol, Des Moines, IA 50311 USA.
[Pandit, Nivedita K.] Drake Univ, Dept Pharmaceut Biomed & Adm Sci, Des Moines, IA 50311 USA.
RP Valdovinos, MG (reprint author), Drake Univ, Dept Psychol, 2507 Univ Ave, Des Moines, IA 50311 USA.
EM maria.valdovinos@drake.edu
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NR 40
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0091-2700
EI 1552-4604
J9 J CLIN PHARMACOL
JI J. Clin. Pharmacol.
PD OCT
PY 2014
VL 54
IS 10
BP 1093
EP 1096
DI 10.1002/jcph.324
PG 4
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AP1EG
UT WOS:000341808800002
PM 24788353
ER
PT J
AU Trivedi, MS
Shah, JS
Al-Mughairy, S
Hodgson, NW
Simms, B
Trooskens, GA
Criekinge, W
Deth, RC
AF Trivedi, Malay S.
Shah, Jayni S.
Al-Mughairy, Sara
Hodgson, Nathaniel W.
Simms, Benjamin
Trooskens, Geert A.
Van Criekinge, Wim
Deth, Richard C.
TI Food-derived opioid peptides inhibit cysteine uptake with redox and
epigenetic consequences
SO JOURNAL OF NUTRITIONAL BIOCHEMISTRY
LA English
DT Article
DE Glutathione; Casomorphin; Gliadin; Autism spectrum disorder;
Schizophrenia; Celiac disease; Gluten-free/casein-free diet
ID AUTISM SPECTRUM DISORDERS; GLUTEN-FREE DIET; CELIAC-DISEASE; OXIDATIVE
STRESS; NEURODEVELOPMENTAL DISORDERS; CEREBROSPINAL-FLUID;
BETA-CASOMORPHINS; DNA METHYLATION; WHEAT GLUTEN; IN-VIVO
AB Dietary interventions like gluten-free and casein-free diets have been reported to improve intestinal, autoimmune and neurological symptoms in patients with a variety of conditions; however, the underlying mechanism of benefit for such diets remains unclear. Epigenetic programming, including CpG methylation and histone modifications, occurring during early postnatal development can influence the risk of disease in later life, and such programming may be modulated by nutritional factors such as milk and wheat, especially during the transition from a solely milk-based diet to one that includes other forms of nutrition. The hydrolytic digestion of casein (a major milk protein) and gliadin (a wheat-derived protein) releases peptides with opioid activity, and in the present study, we demonstrate that these food-derived proline-rich opioid peptides modulate cysteine uptake in cultured human neuronal and gastrointestinal (GI) epithelial cells via activation of opioid receptors. Decreases in cysteine uptake were associated with changes in the intracellular antioxidant glutathione and the methyl donor S-adenosylmethionine. Bovine and human casein-derived opioid peptides increased genome-wide DNA methylation in the transcription start site region with a potency order similar to their inhibition of cysteine uptake. Altered expression of genes involved in redox and methylation homeostasis was also observed. These results illustrate the potential of milk- and wheat-derived peptides to exert antioxidant and epigenetic changes that may be particularly important during the postnatal transition from placental to GI nutrition. Differences between peptides derived from human and bovine milk may contribute to developmental differences between breastfed and formula-fed infants. Restricted antioxidant capacity, caused by wheat- and milk-derived opioid peptides, may predispose susceptible individuals to inflammation and systemic oxidation, partly explaining the benefits of gluten-free or casein-free diets. (C) 2014 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-SA license (http://creativecommons.org/licenses/by-nc-sa/3.0/).
C1 [Trivedi, Malay S.; Shah, Jayni S.; Al-Mughairy, Sara; Hodgson, Nathaniel W.; Simms, Benjamin; Deth, Richard C.] Northeastern Univ, Dept Pharmaceut Sci, Boston, MA 02115 USA.
[Trooskens, Geert A.; Van Criekinge, Wim] Univ Ghent, Fac Biosci Engn, Dept Math Modelling Stat & Bioinformat, B-9000 Ghent, Belgium.
RP Deth, RC (reprint author), Northeastern Univ, Room 169,140 Fenway,360 Huntington Ave, Boston, MA 02115 USA.
EM r.deth@neu.edu
FU Autism Research Institute; A2 Corporation Limited; National Institute
for Drug Abuse [R21DA030225]
FX This work was supported by research grants to R.D. from the Autism
Research Institute, A2 Corporation Limited and the National Institute
for Drug Abuse (R21DA030225). The content is solely the responsibility
of the authors and does not necessarily represent the official views of
the National Institutes of Health.
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NR 51
TC 5
Z9 5
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0955-2863
EI 1873-4847
J9 J NUTR BIOCHEM
JI J. Nutr. Biochem.
PD OCT
PY 2014
VL 25
IS 10
BP 1011
EP 1018
DI 10.1016/j.jnutbio.2014.05.004
PG 8
WC Biochemistry & Molecular Biology; Nutrition & Dietetics
SC Biochemistry & Molecular Biology; Nutrition & Dietetics
GA AP1AQ
UT WOS:000341799200004
PM 25018147
ER
PT J
AU Vinet, E
Pineau, CA
Clarke, AE
Fombonne, E
Platt, RW
Bernatsky, S
AF Vinet, E.
Pineau, C. A.
Clarke, A. E.
Fombonne, E.
Platt, R. W.
Bernatsky, S.
TI Neurodevelopmental disorders in children born to mothers with systemic
lupus erythematosus
SO LUPUS
LA English
DT Review
DE Systemic lupus erythematosus; neurodevelopmental disorders; pregnancy
ID AUTISM SPECTRUM DISORDERS; DEFICIT HYPERACTIVITY DISORDER;
NEUROPSYCHOLOGICAL DEVELOPMENT; ANTIPHOSPHOLIPID SYNDROME; FETAL; RISK;
ASSOCIATION; ANTIBODIES; PREGNANCY; EXPOSURE
AB Children born to women with systemic lupus erythematosus seem to have a potentially increased risk of neurodevelopmental disorders compared to children born to healthy women. Recent experimental data suggest in utero exposure to maternal antibodies and cytokines as important risk factors for neurodevelopmental disorders. Interestingly, women with systemic lupus erythematosus display high levels of autoantibodies and cytokines, which have been shown, in animal models, to alter fetal brain development and induce behavioral anomalies in offspring. Furthermore, subjects with systemic lupus erythematosus and neurodevelopmental disorders share a common genetic predisposition, which could impair the fetal immune response to in utero immunologic insults. Moreover, systemic lupus erythematosus pregnancies are at increased risk of adverse obstetrical outcomes and medication exposures, which have been implicated as potential risk factors for neurodevelopmental disorders. In this article, we review the current state of knowledge on neurodevelopmental disorders and their potential determinants in systemic lupus erythematosus offspring.
C1 [Vinet, E.; Bernatsky, S.] McGill Univ, Ctr Hlth, Div Clin Epidemiol, Montreal, PQ H3G 1A4, Canada.
[Vinet, E.; Pineau, C. A.; Bernatsky, S.] McGill Univ, Ctr Hlth, Div Rheumatol, Montreal, PQ H3G 1A4, Canada.
[Clarke, A. E.] Univ Calgary, Div Rheumatol, Calgary, AB, Canada.
[Fombonne, E.] Oregon Hlth & Sci Univ, Dept Psychiat, Portland, OR 97201 USA.
[Platt, R. W.] McGill Univ, Dept Epidemiol Biostat & Occupat Hlth, Montreal, PQ H3G 1A4, Canada.
RP Vinet, E (reprint author), McGill Univ, Montreal Gen Hosp, Ctr Hlth, 1650 Cedar Ave,Room A6 162-2, Montreal, PQ H3G 1A4, Canada.
EM evelyne.vinet@mail.mcgill.ca
FU Canadian Institutes for Health Research (CIHR) Fellowship; Fonds de
Recherche en Sante du Quebec (FRSQ) Fellowship; FRSQ Career award; CIHR
Junior Investigator award
FX E Vinet: Canadian Institutes for Health Research (CIHR) Fellowship,
Fonds de Recherche en Sante du Quebec (FRSQ) Fellowship; CA Pineau:
none; AE Clarke: The Arthritis Society Chair in Rheumatology and
Rheumatic Diseases; E Fombonne: none; RW Platt: none; S Bernatsky: FRSQ
Career award, CIHR Junior Investigator award.
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NR 49
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0961-2033
EI 1477-0962
J9 LUPUS
JI Lupus
PD OCT
PY 2014
VL 23
IS 11
BP 1099
EP 1104
DI 10.1177/0961203314541691
PG 6
WC Rheumatology
SC Rheumatology
GA AP1ES
UT WOS:000341810200001
PM 24969080
ER
PT J
AU Kilsby, AJ
AF Kilsby, A. J.
TI Homozygosity for piebaldism with a proven KIT mutation resulting in
depigmentation of the skin and hair, deafness, developmental delay and
autism spectrum disorder (vol 22, pg 64, 2013)
SO CLINICAL DYSMORPHOLOGY
LA English
DT Correction
CR Kilsby AJ, 2013, CLIN DYSMORPHOL, V22, P64, DOI 10.1097/MCD.0b013e32835e8ce5
NR 1
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0962-8827
EI 1473-5717
J9 CLIN DYSMORPHOL
JI Clin. Dysmorphol.
PD OCT
PY 2014
VL 23
IS 4
BP 158
EP 158
DI 10.1097/MCD.0000000000000055
PG 1
WC Genetics & Heredity
SC Genetics & Heredity
GA AO8TI
UT WOS:000341627400011
ER
PT J
AU Schneider, D
Nott, ZE
Dux, PE
AF Schneider, Dana
Nott, Zoie E.
Dux, Paul E.
TI Task instructions and implicit theory of mind
SO COGNITION
LA English
DT Article
DE Theory of Mind; Anticipatory looking; Implicit processing; Mentalizing;
Automatic processing
ID MENTAL STATES; BELIEFS; AUTISM; OTHERS; REPRESENTATION; CHIMPANZEE;
INFANTS
AB It has been hypothesized that humans are able to track other's mental states efficiently and without being conscious of doing so using their implicit theory of mind (iToM) system. However, while iToM appears to operate unconsciously recent work suggests it does draw on executive attentional resources (Schneider, Lam, Bayliss, 82 Dux, 2012) bringing into question whether iToM is engaged efficiently. Here, we examined other aspects relating to automatic processing: The extent to which the operation of iToM is controllable and how it is influenced by beavioral intentions. This was implemented by assessing how task instructions affect eye-movement patterns in a Sally-Anne false-belief task. One group of subjects was given no task instructions (No Instructions), another overtly judged the location of a ball a protagonist interacted with (Ball Tracking) and a third indicated the location consistent with the actor's belief about the ball's location (Belief Tracking). Despite different task goals, all groups' eye-movement patterns were consistent with belief analysis, and the No Instructions and Ball Tracking groups reported no explicit mentalizing when debriefed. These findings represent definitive evidence that humans implicitly track the belief states of others in an uncontrollable and unintentional manner. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Schneider, Dana; Nott, Zoie E.; Dux, Paul E.] Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
[Schneider, Dana] Univ Jena, Inst Psychol, D-07743 Jena, Germany.
RP Schneider, D (reprint author), Univ Jena, Dept Gen Psychol & Cognit Neurosci, Inst Psychol, Steiger 3,Haus 1, D-07743 Jena, Germany.
EM msdanaschneider@gmail.com; paul.e.dux@gmail.com
RI Dux, Paul/I-1098-2014
OI Dux, Paul/0000-0002-4270-2583
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NR 29
TC 4
Z9 4
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0010-0277
EI 1873-7838
J9 COGNITION
JI Cognition
PD OCT
PY 2014
VL 133
IS 1
BP 43
EP 47
DI 10.1016/j.cognition.2014.05.016
PG 5
WC Psychology, Experimental
SC Psychology
GA AO6KY
UT WOS:000341462200005
PM 24955887
ER
PT J
AU Banerjee, K
Bloom, P
AF Banerjee, Konika
Bloom, Paul
TI Why did this happen to me? Religious believers' and non-believers'
teleological reasoning about life events
SO COGNITION
LA English
DT Article
DE Teleological reasoning; Fate; Religion; Life events; Theory of mind;
Cognitive biases
ID GENERAL ATTRIBUTION THEORY; SPECTRUM QUOTIENT AQ; COMPENSATORY CONTROL;
NONMATERIAL BELIEFS; FUNCTIONING AUTISM; PARANORMAL BELIEF; EMPATHY
QUOTIENT; MIND PERCEPTION; GOD; EXPLANATIONS
AB People often believe that significant life events happen for a reason. In three studies, we examined evidence for the view that teleological beliefs reflect a general cognitive bias to view the world in terms of agency, purpose, and design. Consistent with this hypothesis, we found that individual differences in mentalizing ability predicted both the tendency to believe in fate (Study 1) and to infer purposeful causes of one's own life events (Study 2). In addition, people's perception of purpose in life events was correlated with their teleological beliefs about nature, but this relationship was driven primarily by individuals' explicit religious and paranormal beliefs (Study 3). Across all three studies, we found that while people who believe in God hold stronger teleological beliefs than those who do not, there is nonetheless evidence of teleological beliefs among non-believers, confirming that the perception of purpose in life events does not rely on theistic belief. These findings suggest that the tendency to perceive design and purpose in life events while moderated by theistic belief is not solely a consequence of culturally transmitted religious ideas. Rather, this teleological bias has its roots in certain more general social propensities. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Banerjee, Konika; Bloom, Paul] Yale Univ, Dept Psychol, New Haven, CT 06520 USA.
RP Banerjee, K (reprint author), Yale Univ, Dept Psychol, 2 Hillhouse Ave, New Haven, CT 06520 USA.
EM konika.banerjee@yale.edu; paul.bloom@yale.edu
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NR 103
TC 4
Z9 4
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0010-0277
EI 1873-7838
J9 COGNITION
JI Cognition
PD OCT
PY 2014
VL 133
IS 1
BP 277
EP 303
DI 10.1016/j.cognition.2014.06.017
PG 27
WC Psychology, Experimental
SC Psychology
GA AO6KY
UT WOS:000341462200025
PM 25064830
ER
PT J
AU Staudte, M
Crocker, MW
Heloir, A
Kipp, M
AF Staudte, Maria
Crocker, Matthew W.
Heloir, Alexis
Kipp, Michael
TI The influence of speaker gaze on listener comprehension: Contrasting
visual versus intentional accounts
SO COGNITION
LA English
DT Article
DE Joint attention; Gaze; Arrows; Visual attention shifts; Referential
intention; Language comprehension
ID ARROW CUES; COUNTERPREDICTIVE GAZE; AUTISM SPECTRUM; ATTENTION; EYES;
OTHERS
AB Previous research has shown that listeners follow speaker gaze to mentioned objects in a shared environment to ground referring expressions, both for human and robot speakers. What is less clear is whether the benefit of speaker gaze is due to the inference of referential intentions (Staudte and Crocker, 2011) or simply the (reflexive) shifts in visual attention. That is, is gaze special in how it affects simultaneous utterance comprehension? In four eye-tracking studies we directly contrast speech-aligned speaker gaze of a virtual agent with a non-gaze visual cue (arrow). Our findings show that both cues similarly direct listeners' attention and that listeners can benefit in utterance comprehension from both cues. Only when they are similarly precise, however, does this equality extend to incongruent cueing sequences: that is, even when the cue sequence does not match the concurrent sequence of spoken referents can listeners benefit from gaze as well as arrows. The results suggest that listeners are able to learn a counter-predictive mapping of both cues to the sequence of referents. Thus, gaze and arrows can in principle be applied with equal flexibility and efficiency during language comprehension. (c) 2014 Elsevier B.V. All rights reserved.
C1 [Staudte, Maria; Crocker, Matthew W.] Univ Saarland, Dept Computat Linguist, D-66123 Saarbrucken, Germany.
[Heloir, Alexis] Univ Saarland, DFKI MMCI, D-66123 Saarbrucken, Germany.
[Heloir, Alexis] Univ Valenciennes, LAMIH UMR CNRS 8201, Valenciennes, France.
[Kipp, Michael] Augsburg Univ Appl Sci, Augsburg, Germany.
RP Staudte, M (reprint author), Univ Saarland, Dept Computat Linguist, D-66123 Saarbrucken, Germany.
EM masta@coli.uni-saarland.de
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NR 28
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0010-0277
EI 1873-7838
J9 COGNITION
JI Cognition
PD OCT
PY 2014
VL 133
IS 1
BP 317
EP 328
DI 10.1016/j.cognition.2014.06.003
PG 12
WC Psychology, Experimental
SC Psychology
GA AO6KY
UT WOS:000341462200027
PM 25079951
ER
PT J
AU Alsaeed, I
Al-Somali, F
Sakhnini, L
Aljarallah, OS
Hamdan, RMM
Bubishate, SA
Sarfaraz, ZK
Kamal, A
AF Alsaeed, Ibrahim
Al-Somali, Faisal
Sakhnini, Lama
Aljarallah, Omar S.
Hamdan, Rayan M. M.
Bubishate, Saleh A.
Sarfaraz, Ziyab Khan
Kamal, Amer
TI Autism-relevant social abnormalities in mice exposed perinatally to
extremely low frequency electromagnetic fields
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
LA English
DT Article
DE Autism spectrum disorder; Electromagnetic field; Perinatal exposure;
Anxiety; Social novelty; Motor coordination
ID INTENSITY MAGNETIC-FIELD; 5-HT1B RECEPTOR; MOUSE MODELS; 50 HZ;
BEHAVIOR; RATS; DISORDERS; SEROTONIN; BRAIN; MOTOR
AB The incidence of autism spectrum disorders (ASD) has been rising, but the causes of ASD remain largely unidentified. Collective data have implicated the increased human exposure to electromagnetic fields (EMF) in the increasing incidence of ASD. There are established biological effects of extremely low-frequency (ELF) EMF, but the relation to ASD is not investigated enough. In this study we examined the effects of perinatal exposure to ELF EMF on some ASD-relevant behavioral parameters in mice. The EMF was delivered via a Helmholtz coil pair. Male BALB/C mice were used and divided into exposed and control groups (n=8 and n=9, respectively). Tests were used to assess sociability, preference for social novelty, locomotion, anxiety, exploratory behavior, motor coordination, and olfaction. The examined mice were all males and exposed to EMF during the last week of gestation and for 7 days after delivery. The exposed mice demonstrated a lack of normal sociability and preference for social novelty while maintaining normal anxiety-like behavior, locomotion, motor coordination, and olfaction. Exposed mice also demonstrated decreased exploratory activity. We concluded that these results are supportive of the hypothesis of a causal link between exposure to ELF-EMF and ASD; however, replications of the study with further tests are recommended. (C) 2014 ISDN. Published by Elsevier Ltd. All rights reserved.
C1 [Alsaeed, Ibrahim; Al-Somali, Faisal; Aljarallah, Omar S.; Hamdan, Rayan M. M.; Bubishate, Saleh A.; Sarfaraz, Ziyab Khan; Kamal, Amer] Arabian Gulf Univ, Coll Med & Med Sci, Dept Physiol, Manama, Bahrain.
[Sakhnini, Lama] Univ Bahrain, Dept Phys, Coll Sci, Manama, Bahrain.
RP Kamal, A (reprint author), Arabian Gulf Univ, Coll Med & Med Sci, Dept Physiol, POB 26671, Manama, Bahrain.
EM amerha@agu.edu.bh
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Ulku R, 2011, BIOL TRACE ELEM RES, V143, P359, DOI 10.1007/s12011-010-8855-2
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NR 58
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0736-5748
EI 1873-474X
J9 INT J DEV NEUROSCI
JI Int. J. Dev. Neurosci.
PD OCT
PY 2014
VL 37
BP 58
EP 64
DI 10.1016/j.ijdevneu.2014.06.010
PG 7
WC Developmental Biology; Neurosciences
SC Developmental Biology; Neurosciences & Neurology
GA AO6PY
UT WOS:000341475200009
PM 24970316
ER
PT J
AU Zhang, QB
Jiang, LF
Kong, LY
Lu, YJ
AF Zhang, Qing-biao
Jiang, Liang-fu
Kong, Ling-yu
Lu, Yuan-Jun
TI Serum Brain-derived neurotrophic factor levels in Chinese children with
autism spectrum disorders: A pilot study
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
LA English
DT Article
DE Autism spectrum disorders; Brain-derived neurotrophic factor; Risk;
Chinese
ID FACTOR BDNF LEVELS; MENTAL-RETARDATION; OXIDATIVE STRESS; NEONATAL
BLOOD; NEUROPEPTIDES; NEUROTENSIN; PROTEIN
AB Brain-derived neurotrophic factor (BDNF) plays a critical role in the pathogenesis of Autism spectrum disorders (ASD). The purpose of this study was to investigate the potential role of BDNF in Chinese children with ASD. Sixty patients (48 male, 12 female) diagnosed with ASD and 60 healthy sex and age control subjects were assessed for serum BDNF content at admission. BDNF were assayed with enzyme-linked immunosorbent assay methods, and severity of ASD was evaluated with the Childhood Autism Rating Scale (CARS) Score. The results indicated that the median serum BDNF levels were significantly (P<0.0001) higher in children with ASD as compared to normal cases [17.6(IQR: 13.7-21.4) ng/ml and 11.5(9.6-13.8) ng/ml, respectively]. Based on the receiver operating characteristic (ROC) curve, the optimal cut-off value of serum BDNF levels as an indicator for auxiliary diagnosis of autism was projected to be 15.0 ng/ml. Further, we found that an increased risk of ASD was associated with BDNF levels >15.0 ng/ml (adjusted OR 10.4,95% CI: 4.39-29.32) after adjusting for above possible confounders. Our study demonstrated that serum BDNF levels were associated with ASD, and higher levels could be considered as an independent risk factor of ASD. (C) 2014 ISDN. Published by Elsevier Ltd. All rights reserved.
C1 [Zhang, Qing-biao] Linyi Peoples Hosp, Dept Pediat Internal Med 2, Linyi, Shandong, Peoples R China.
[Jiang, Liang-fu; Lu, Yuan-Jun] Linyi Peoples Hosp, Dept Pediat Surg 1, Linyi, Shandong, Peoples R China.
[Kong, Ling-yu] Linyi Tumors Hosp, Dept Breast Surg, Linyi, Shandong, Peoples R China.
RP Lu, YJ (reprint author), 27 Eastern Sect Jiefang Rd, Linyi 276003, Shandong, Peoples R China.
EM YCHAO157@163.com
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Wingate M, 2014, MMWR SURVEILL SUMM, V63, P1
NR 28
TC 4
Z9 4
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0736-5748
EI 1873-474X
J9 INT J DEV NEUROSCI
JI Int. J. Dev. Neurosci.
PD OCT
PY 2014
VL 37
BP 65
EP 68
DI 10.1016/j.ijdevneu.2014.06.013
PG 4
WC Developmental Biology; Neurosciences
SC Developmental Biology; Neurosciences & Neurology
GA AO6PY
UT WOS:000341475200010
PM 24984148
ER
PT J
AU O'Reilly, J
Peterson, CC
AF O'Reilly, Jessica
Peterson, Candida C.
TI Scaling Theory of Mind Development in Indigenous- and Anglo-Australian
Toddlers and Older Children
SO JOURNAL OF CROSS-CULTURAL PSYCHOLOGY
LA English
DT Article
DE developmental; cognitive; social cognition; communication; cultural
psychology
ID FALSE-BELIEF; CHINESE CHILDREN; AUTISM-SPECTRUM; METAANALYSIS; LANGUAGE;
CULTURES
AB We examined the growth of a theory of mind (ToM) in Indigenous Australian children who spoke Aboriginal English as their first language. We also pioneered the suitability of a five-step developmental scale of ToM understanding for 2-year-old toddlers from Indigenous-and Anglo-Australian cultural backgrounds. A total of 97 children aged 2 to 5 years took (a) a battery of false belief (FB) tests, (b) a developmental ToM Scale, and (c) a standard language ability test. Results showed that, contrary to earlier findings for Piagetian tasks, the Indigenous Australian children were not delayed in ToM understanding. Instead, at age 2, Indigenous toddlers significantly outperformed their Anglo peers and throughout the preschool years they scored just as highly on FB and all ToM Scale steps as Anglo-Australians their age, notwithstanding their statistically significant delays behind Anglo-Australians in standard English language skill (the language of testing). We also found, for the first time, that the five-step ToM Scale was both suitable for, and sensitive to individual differences in, children as young as age 2. These findings add to a growing body of research highlighting the importance of early family and cultural experiences for the growth of social cognition.
C1 [O'Reilly, Jessica; Peterson, Candida C.] Univ Queensland, Brisbane, Qld 4072, Australia.
RP Peterson, CC (reprint author), Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
EM candi@psy.uq.edu.au
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NR 47
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0022-0221
EI 1552-5422
J9 J CROSS CULT PSYCHOL
JI J. Cross-Cult. Psychol.
PD OCT
PY 2014
VL 45
IS 9
BP 1489
EP 1501
DI 10.1177/0022022114542285
PG 13
WC Psychology, Social
SC Psychology
GA AO6DF
UT WOS:000341438700008
ER
PT J
AU Limprasert, P
Maisrikhaw, W
Sripo, T
Wirojanan, J
Hansakunachai, T
Roongpraiwan, R
Sombuntham, T
Ruangdaraganon, N
Guo, XQ
AF Limprasert, Pornprot
Maisrikhaw, Worathai
Sripo, Thanya
Wirojanan, Juthamas
Hansakunachai, Tippawan
Roongpraiwan, Rawiwan
Sombuntham, Tasnawat
Ruangdaraganon, Nichara
Guo, Xiuqing
TI No association of Val158Met variant in the COMT gene with autism
spectrum disorder in Thai children
SO PSYCHIATRIC GENETICS
LA English
DT Article
ID POLYMORPHISM
C1 [Limprasert, Pornprot; Maisrikhaw, Worathai; Sripo, Thanya] Prince Songkla Univ, Div Human Genet, Dept Pathol, Fac Med, Hat Yai 90110, Songkhla, Thailand.
[Wirojanan, Juthamas] Prince Songkla Univ, Fac Med, Dept Pediat, Hat Yai 90110, Songkhla, Thailand.
[Hansakunachai, Tippawan] Thammasat Univ, Dept Pediat, Fac Med, Pathum Thani, Thailand.
[Roongpraiwan, Rawiwan; Sombuntham, Tasnawat; Ruangdaraganon, Nichara] Mahidol Univ, Ramathibodi Hosp, Fac Med, Dept Pediat, Bangkok 10400, Thailand.
[Guo, Xiuqing] Harbor UCLA Med Ctr, Los Angeles BioMed Res Inst, Inst Translat Genom & Populat Sci, Torrance, CA 90509 USA.
RP Limprasert, P (reprint author), Prince Songkla Univ, Div Human Genet, Dept Pathol, Fac Med, Hat Yai 90110, Songkhla, Thailand.
EM lpornpro@yahoo.com
CR Chen JS, 2004, AM J HUM GENET, V75, P807, DOI 10.1086/425589
Guo TY, 2013, J INT MED RES, V41, P725, DOI 10.1177/0300060513479871
James SJ, 2006, AM J MED GENET B, V141B, P947, DOI 10.1002/ajmg.b.30366
Yirmiya N, 2001, AM J MED GENET, V105, P381, DOI 10.1002/ajmg.1365
Yoo HJ, 2013, J KOREAN MED SCI, V28, P1403, DOI 10.3346/jkms.2013.28.9.1403
NR 5
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0955-8829
EI 1473-5873
J9 PSYCHIAT GENET
JI Psychiatr. Genet.
PD OCT
PY 2014
VL 24
IS 5
BP 230
EP 231
DI 10.1097/YPG.0000000000000046
PG 2
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AO7BP
UT WOS:000341507300008
PM 24912046
ER
PT J
AU Zimmermann, K
Gorgens, H
Brauer, D
Einsle, F
Noack, B
von Kannen, S
Grossmann, M
Hoyer, J
Strobel, A
Kollner, V
Weidner, K
Ziegler, A
Hemmelmann, C
Schackert, HK
AF Zimmermann, Katrin
Goergens, Heike
Braeuer, David
Einsle, Franziska
Noack, Barbara
von Kannen, Stephanie
Grossmann, Maria
Hoyer, Juergen
Strobel, Alexander
Koellner, Volker
Weidner, Kerstin
Ziegler, Andreas
Hemmelmann, Claudia
Schackert, Hans K.
TI Analysis of gastrin-releasing peptide gene and gastrin-releasing peptide
receptor gene in patients with agoraphobia
SO PSYCHIATRIC GENETICS
LA English
DT Article
DE agoraphobia; gastrin-releasing peptide gene; gastrin-releasing peptide
receptor; genetic variants; panic disorder; sequence analysis
ID GRPR LOCUS; AUTISM
AB A gastrin-releasing peptide receptor (GRPR) knock-out mouse model provided evidence that the gastrin-releasing peptide (GRP) and its neural circuitry operate as a negative feedback-loop regulating fear, suggesting a novel candidate mechanism contributing to individual differences in fear-conditioning and associated psychiatric disorders such as agoraphobia with/without panic disorder. Studies in humans, however, provided inconclusive evidence on the association of GRP and GRPR variations in agoraphobia with/without panic disorder. Based on these findings, we investigated whether GRP and GRPR variants are associated with agoraphobia. Mental disorders were assessed via the Munich-Composite International Diagnostic Interview (M-CIDI) in 95 patients with agoraphobia with/without panic disorder and 119 controls without any mental disorders. A complete sequence analysis of GRP and GRPR was performed in all participants. We found no association of 16 GRP and 7 GRPR variants with agoraphobia with/without panic disorder. (C) 2014 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.
C1 [Zimmermann, Katrin; Weidner, Kerstin] Univ Hosp Carl Gustav Carus, Dept Psychotherapy & Psychosomat Med, Dresden, Germany.
[Goergens, Heike; von Kannen, Stephanie; Grossmann, Maria; Schackert, Hans K.] Univ Hosp Carl Gustav Carus, Dept Surg Res, Dresden, Germany.
[Noack, Barbara] Univ Hosp Carl Gustav Carus, Dept Conservat Dent, Dresden, Germany.
[Braeuer, David; Einsle, Franziska; Hoyer, Juergen] Tech Univ Dresden, Inst Clin Psychol Psychotherapy, D-01187 Dresden, Germany.
[Strobel, Alexander] Stadt Krankenhaus Dresden Friedrichstadt, Inst Psychol 2, Dresden, Germany.
[Braeuer, David] Stadt Krankenhaus Dresden Friedrichstadt, Dept Psychiat, Dresden, Germany.
[Koellner, Volker] Bliestal Clin, Dept Psychosomat Med & Psychotherapy, Blieskastel, Germany.
[Ziegler, Andreas; Hemmelmann, Claudia] Univ Hosp Schleswig Holstein, Inst Med Biometry & Stat, Lubeck, Germany.
[Ziegler, Andreas] Med Univ Lubeck, Ctr Clin Trials, D-23538 Lubeck, Germany.
RP Brauer, D (reprint author), Tech Univ Dresden, Inst Clin Psychol Psychotherapy, Hohe Str 53, D-01187 Dresden, Germany.
EM braeuer@psychologie.tu-dresden.de
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Marui T, 2004, BRAIN DEV-JPN, V26, P5, DOI 10.1016/S0387-7604(03)00067-6
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Shumyatsky GP, 2002, CELL, V111, P905, DOI 10.1016/S0092-8674(02)01116-9
Wittchen H-U, 1996, COMPOSITE INT DIAGNO
NR 6
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0955-8829
EI 1473-5873
J9 PSYCHIAT GENET
JI Psychiatr. Genet.
PD OCT
PY 2014
VL 24
IS 5
BP 232
EP 233
DI 10.1097/YPG.0000000000000038
PG 2
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AO7BP
UT WOS:000341507300009
PM 24912045
ER
PT J
AU Hendy, HM
Williams, KE
Harclerode, W
Riegel, K
AF Hendy, Helen M.
Williams, Keith E.
Harclerode, Whitney
Riegel, Katherine
TI Parent Attribution for Child Eating Scale (PACES). Psychometric
characteristics and associations with child and parent variables
SO APPETITE
LA English
DT Article
DE Child eating problems; Parent feeding practices; Parent perceptions;
Attributions
ID FEEDING PROBLEMS; DISEASE; LOCUS; STRATEGIES; DISORDERS; INFANTS;
WEIGHT; HEALTH
AB Parent participation in interventions for their children's feeding problems may depend on parent attributions for the origins of these problems, but no measure is available to identify these parent perceptions. The purpose of the present paper was to develop a new Parent Attribution for Child Eating Scale (PACES), then to examine how parent perceptions measured by the PACES were associated with child variables and parent feeding practices. Participants included parents of 393 children from a hospital feeding clinic (68.2% boys; mean age = 55.4 months). Parents completed surveys to report children's demographic, medical, and feeding variables, three-point ratings for possible origins of these feeding problems, and their own use of nine child-feeding practices. Exploratory factor analysis of the parent ratings produced the 21-item PACES with four dimensions: Permissive Parenting, Medical Treatments, Oral Problems, and Vomiting Fear. The PACES showed acceptable goodness-of-fit, internal reliability, test-retest reliability, and support for its validity with expected correlations with child and parent variables. Multiple regression revealed that nine child variables (age, body mass index, gender, autism, gastrointestinal problems, neurological problems, oral motor problems, texture feeding problems, diet variety) explained 19-41% of the variance in the four PACES attributions, with oral motor problems significantly correlated with all of them (negatively with Permissive Parenting, positively with the other three), suggesting that its occurrence in combination with other child variables guides parent explanations for children's feeding problems. Multiple regression also found that Many Food Choices was the only parent feeding practice significantly correlated with all four PACES attributions (positively with Permissive Parenting, negatively with the other three), suggesting that it may be parents' primary response to attributions they develop for their children's feeding problems. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Hendy, Helen M.] Penn State Univ, Psychol Program, Schuylkill Haven, PA 17972 USA.
[Williams, Keith E.; Harclerode, Whitney; Riegel, Katherine] Penn State Hershey Med Ctr, Hershey, PA 17033 USA.
RP Hendy, HM (reprint author), Penn State Univ, Psychol Program, Schuylkill Campus,200 Univ Dr, Schuylkill Haven, PA 17972 USA.
EM h14@psu.edu
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NR 30
TC 0
Z9 0
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 0195-6663
EI 1095-8304
J9 APPETITE
JI Appetite
PD OCT 1
PY 2014
VL 81
BP 312
EP 319
DI 10.1016/j.appet.2014.06.029
PG 8
WC Behavioral Sciences; Nutrition & Dietetics
SC Behavioral Sciences; Nutrition & Dietetics
GA AO0GL
UT WOS:000340987000039
PM 24979332
ER
PT J
AU Ebrahimi, S
Okabe, S
AF Ebrahimi, Saman
Okabe, Shigeo
TI Structural dynamics of dendritic spines: Molecular composition, geometry
and functional regulation
SO BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
LA English
DT Review
DE Filopodia; Dendritic spine; BAR domain protein; Postsynaptic membrane;
Membrane receptor; Synaptic pathology
ID SERIAL ELECTRON-MICROSCOPY; MILD COGNITIVE IMPAIRMENT; AUTISM SPECTRUM
DISORDERS; BAR DOMAIN SUPERFAMILY; LONG-TERM POTENTIATION;
CENTRAL-NERVOUS-SYSTEM; ACTIN-BASED PLASTICITY; RAT HIPPOCAMPAL SLICE;
NEOCORTEX IN-VIVO; POSTSYNAPTIC DENSITY
AB The development of dendritic spines with specific geometry and membrane composition is critical for proper synaptic function. Specific spine membrane architecture, sub-spine microdomains and spine head and neck geometry allow for well-coordinated and compartmentalized signaling, disruption of which could lead to various neurological diseases. Research from neuronal cell culture, brain slices and direct in vivo imaging indicates that dendritic spine development is a dynamic process which includes transition from small dendritic filopodia through a series of structural refinements to elaborate spines of various morphologies. Despite intensive research, the precise coordination of this morphological transition, the changes in molecular composition, and the relation of spines of various morphologies to function remain a central enigma in the development of functional neuronal circuits. Here, we review research so far and aim to provide insight into the key events that drive structural change during transition from immature filopodia to fully functional spines and the relevance of spine geometry to function. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Ebrahimi, Saman; Okabe, Shigeo] Univ Tokyo, Grad Sch Med, Dept Cellular Neurobiol, Tokyo, Japan.
RP Okabe, S (reprint author), 7-3-1 Hongo Bunkyo Ku, Tokyo 1130033, Japan.
EM okabe@m.u-tokyo.ac.jp
FU Ministry of Education, Culture, Sports, Science and Technology of Japan
[22650070]
FX This work was supported by Grants-in-Aid for Scientific Research
(22650070 to S.O.) and Grant-in-Aid for Scientific Research on
Innovative Areas (Comprehensive Brain Science Network) from the Ministry
of Education, Culture, Sports, Science and Technology of Japan. This
work has also been supported by Grant-in-Aid for Scientific Research on
Innovative Areas, 'Glial assembly: a new regulatory machinery of brain
function and disorders'. A part of this study is the result of
'Development of biomarker candidates for social behavior' carried out
under the Strategic Research Program for Brain Sciences by the Ministry
of Education, Culture, Sports, Science and Technology of Japan (S.O.).
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NR 124
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0005-2736
EI 0006-3002
J9 BBA-BIOMEMBRANES
JI Biochim. Biophys. Acta-Biomembr.
PD OCT
PY 2014
VL 1838
IS 10
BP 2391
EP 2398
DI 10.1016/j.bbamem.2014.06.002
PG 8
WC Biochemistry & Molecular Biology; Biophysics
SC Biochemistry & Molecular Biology; Biophysics
GA AO0CB
UT WOS:000340975600004
PM 24915021
ER
PT J
AU Marin, AM
Seco, FL
Serrano, SM
Garcia, SA
Gomez, MG
Ney, I
AF Masana Marin, Adela
Lopez Seco, Fernando
Marti Serrano, Susana
Acosta Garcia, Silvia
Gaviria Gomez, Milena
Ney, Inti
TI Do Firstborn Children Have an Increased Risk of ADHD?
SO JOURNAL OF ATTENTION DISORDERS
LA English
DT Article
DE Attention deficit disorder; ADHD; epidemiology; family risk factors;
firstborn children
ID DEFICIT HYPERACTIVITY DISORDER; ATTENTION-DEFICIT/HYPERACTIVITY
DISORDER; BIRTH-ORDER; PERINATAL FACTORS; ATOPIC DISEASES; ASTHMA;
AUTISM; POPULATION; PREVALENCE; ALLERGY
AB Objective: Although previous reports have found no birth-order influence on ADHD risk, the authors hypothesize that being the firstborn is a risk factor for developing ADHD. Method: They selected all of the currently treated ADHD outpatients (n = 748) from our database. Families with adopted sons, nonnuclear families, and families with only one child and with sons (affected or unaffected) younger than 6 or older than 18 years were excluded. A total of 181 families with 213 ADHD sons met the inclusion criteria. We used all siblings without a clinical diagnosis of ADHD and who had no contact with our service as our unaffected controls (n = 173). Results: The bivariate analysis showed that ADHD was associated with birth order and that firstborn children had nearly twice the ADHD risk of children with other birth orders. Conclusion: birth order can be an ADHD risk factor in clinical samples.
C1 [Masana Marin, Adela; Lopez Seco, Fernando; Marti Serrano, Susana; Acosta Garcia, Silvia; Gaviria Gomez, Milena; Ney, Inti] Univ Rovira & Virgili, Pere Mata Grp, IISP, Child & Adolescent Mental Hlth Ctr, Tarragona, Spain.
RP Marin, AM (reprint author), Carretera Inst Pere Mata Sn, Tarragona 43206, Spain.
EM masanaa@peremata.com
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NR 26
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1087-0547
EI 1557-1246
J9 J ATTEN DISORD
JI J. Atten. Disord.
PD OCT
PY 2014
VL 18
IS 7
BP 594
EP 597
DI 10.1177/1087054712445066
PG 4
WC Psychology, Developmental; Psychiatry
SC Psychology; Psychiatry
GA AN8VJ
UT WOS:000340883000004
PM 22826511
ER
PT J
AU Altgassen, M
Kretschmer, A
Kliegel, M
AF Altgassen, Mareike
Kretschmer, Anett
Kliegel, Matthias
TI Task Dissociation in Prospective Memory Performance in Individuals With
ADHD
SO JOURNAL OF ATTENTION DISORDERS
LA English
DT Article
DE ADHD; adult; cognitive control; prospective memory
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY
DISORDER; AUTISM SPECTRUM DISORDER; WORKING-MEMORY; ADULTS; CHILDREN;
MULTITASKING; INHIBITION; ABNORMALITIES; VALIDITY
AB Objective: The present study investigated, for the first time, event- and time-based prospective memory ( PM) in the same sample of adults with ADHD within one paradigm using parallel task constraints. Method: A total of 25 individuals with ADHD and 25 matched neurotypical controls completed a computerized version of the Dresden Breakfast Task, which required participants to prepare breakfast following a set of rules and time restrictions. Results: Although groups did not differ in event- based PM, results demonstrated a large-sized impairment in individuals with ADHD in time-based PM. Conclusion: Findings suggest a task-specific impairment in PM functioning and are discussed in an executive control framework of neurocognitive functioning in ADHD.
C1 [Altgassen, Mareike; Kretschmer, Anett; Kliegel, Matthias] Tech Univ Dresden, D-01062 Dresden, Germany.
[Kliegel, Matthias] Univ Geneva, CH-1211 Geneva 4, Switzerland.
RP Altgassen, M (reprint author), Tech Univ Dresden, Dept Psychol, D-01062 Dresden, Germany.
EM altgassen@psychologie.tu-dresden.de
RI Altgassen, Mareike/J-3048-2012
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NR 43
TC 2
Z9 2
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1087-0547
EI 1557-1246
J9 J ATTEN DISORD
JI J. Atten. Disord.
PD OCT
PY 2014
VL 18
IS 7
BP 617
EP 624
DI 10.1177/1087054712445484
PG 8
WC Psychology, Developmental; Psychiatry
SC Psychology; Psychiatry
GA AN8VJ
UT WOS:000340883000007
PM 22660916
ER
PT J
AU Mackowiak, M
Mordalska, P
Wedzony, K
AF Mackowiak, Marzena
Mordalska, Patrycja
Wedzony, Krzysztof
TI Neuroligins, synapse balance and neuropsychiatric disorders
SO PHARMACOLOGICAL REPORTS
LA English
DT Review
DE Cell adhesion molecules; Neuroligin; Synapse; Autism; Schizophrenia
ID CELL-ADHESION MOLECULE; INHIBITORY SYNAPSES; GABAERGIC SYNAPSES; MICE
LACKING; AUTISM; SCHIZOPHRENIA; MUTATION; PROTEIN; NLGN4; EXPRESSION
AB Neuroligins are postsynaptic adhesion molecules that are involved in the regulation of synapse organisation and function. Four neuroligin proteins have been identified (neuroligin 1, 2, 3, 4), which are differentially enriched in the postsynaptic specialisation of synapses. Neuroligin 1 is localised on excitatory (glutamatergic) synapses, whereas neuroligin 2 is located on inhibitory (GABAergic/glycinergic) synapses. Neuroligin 3 and 4 are present on both types of synapses. Recent data indicate that neuroligins are involved in synapse maturation and specification. Because of their synaptic localisation and function, neuroligins control the balance between excitatory and inhibitory synapses. Animal studies with neuroligin transgenic mice showed the involvement of neuroligin 1 in memory formation, and neuroligin 2,3 or 4 in social behaviour. Interestingly, genetic analysis of humans showed a mutation in the neuroligin 2 gene in schizophrenic patients, while mutations in neuroligin 3 or 4 genes were found in autism. (C) 2014 Institute of Pharmacology, Polish Academy of Sciences. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.
C1 [Mackowiak, Marzena; Mordalska, Patrycja; Wedzony, Krzysztof] Polish Acad Sci, Inst Pharmacol, Lab Pharmacol & Brain Biostruct, Krakow, Poland.
RP Mackowiak, M (reprint author), Polish Acad Sci, Inst Pharmacol, Lab Pharmacol & Brain Biostruct, Krakow, Poland.
EM mackow@if-pan.krakow.pl
FU [POIG.01.01.02.-12-004/09]
FX This work was supported by Grant No. POIG.01.01.02.-12-004/09
"Depression-Mechanism-Therapy" (part 2.2. to MM).
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NR 62
TC 1
Z9 1
PU POLISH ACAD SCIENCES INST PHARMACOLOGY
PI KRAKOW
PA SMETNA 12, 31-343 KRAKOW, POLAND
SN 1734-1140
J9 PHARMACOL REP
JI Pharmacol. Rep.
PD OCT
PY 2014
VL 66
IS 5
BP 830
EP 835
DI 10.1016/j.pharep.2014.04.011
PG 6
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AO1GW
UT WOS:000341061600014
PM 25149987
ER
PT J
AU Sosa-Diaz, N
Bringas, ME
Atzori, M
Flores, G
AF Sosa-Diaz, Nuvia
Elena Bringas, Maria
Atzori, Marco
Flores, Gonzalo
TI Prefrontal Cortex, Hippocampus, and Basolateral Amygdala Plasticity in a
Rat Model of Autism Spectrum
SO SYNAPSE
LA English
DT Article
DE valproic acid; prefrontal cortex; hippocampus; amygdala; cortical
thickness; autism
ID VALPROIC ACID; PRENATAL EXPOSURE; ANIMAL-MODEL; BEHAVIORAL ALTERATIONS;
DENDRITIC MORPHOLOGY; VENTRAL HIPPOCAMPUS; NUCLEUS-ACCUMBENS;
CONNECTIVITY; DISORDER; CHILDREN
AB We aimed to investigate the effect of prenatal administration of valproic acid (VPA) (500 mg/kg) at embryonic day 12.5 on the anatomical properties of the prefrontal cortex, hippocampus, and basolateral amygdala, at three different ages: immediately after weaning (postnatal day 21 [PD21]), prepubertal (PD35), and postpubertal (PD70) ages in a rat model of autistic spectrum disorder. Quantitative analysis of the thickness of the prefrontal cortex revealed a reduced size at all study ages in the cingulate 1 area of the prefrontal cortex and CA1 of the dorsal hippocampus in prenatally exposed animals compared to controls. At the level of the basolateral amygdala, a reduction in the size was observed at PD35 and PD70 in the VPA group. In addition, a reduced thickness was observed in the prelimbic region of the prefrontal cortex in VPA animals at PD35. Interestingly, no differences in cortical thickness were observed between control and VPA animals in the infralimbic region of the prefrontal at any age. Our results suggest that prenatal exposure to VPA differentially alters cortical limbic regions anatomical parameters, with implication in the autistic spectrum disorder. (C) 2014 Wiley Periodicals, Inc.
C1 [Sosa-Diaz, Nuvia; Elena Bringas, Maria; Flores, Gonzalo] Univ Autonoma Puebla, Inst Fisiol, Lab Neuropsiquiatria, Puebla 72570, Mexico.
[Atzori, Marco] Univ Autonoma San Luis Potosi, Fac Ciencias, San Luis Potosi, Mexico.
[Atzori, Marco] Univ Texas Dallas, Sch Behav & Brain Sci, Lab Synapt & Cellular Physiol, Richardson, TX 75083 USA.
RP Flores, G (reprint author), Univ Autonoma Puebla, Inst Fisiol, Lab Neuropsiquiatria, 14 Sur 6301, Puebla 72570, Mexico.
EM gonzaloflores56@gmail.com
FU VIEP-BUAP [FLAG-SAL14-Ind]; PROMEP [CA-BUAP-120]; CONACYT [129303,
138663]
FX Contract grant sponsor: VIEP-BUAP; Contract grant number:
FLAG-SAL14-Ind; Contract grant sponsor: PROMEP; Contract grant number:
CA-BUAP-120; Contract grant sponsor: CONACYT; Contract grant number:
129303, 138663.
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NR 39
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0887-4476
EI 1098-2396
J9 SYNAPSE
JI Synapse
PD OCT
PY 2014
VL 68
IS 10
BP 468
EP 473
DI 10.1002/syn.21759
PG 6
WC Neurosciences
SC Neurosciences & Neurology
GA AN6AV
UT WOS:000340676600005
PM 24985713
ER
PT J
AU Bigler, ED
AF Bigler, Erin D.
TI Magnetic Resonance Imaging in the Evaluation of Cognitive Function
SO PEDIATRIC BLOOD & CANCER
LA English
DT Review
DE cognitive function; diffusion tensor imaging; functional magnetic
resonance imaging; magnetic resonance imaging
ID TRAUMATIC BRAIN-INJURY; AUTISM
AB Image quality of magnetic resonance imaging (MRI) scans of the brain currently approximate gross anatomy as would be viewed at autopsy. During the first decade of the 21st Century incredible advances in image processing and quantification have occurred permitting more refined methods for studying brain-behavior-cognitive functioning. The current presentation overviews the current status of MRI methods for routine clinical assessment of brain pathology, how these techniques identify neuropathology and how pathological findings are quantified. Diffusion tensor imaging (DTI), functional MRI (fMRI), and resting state fMRI are all reviewed, emphasizing how these techniques permit an examination of brain function and connectivity. General regional relationships of brain function associated with cognitive control will be highlighted. (C) 2014 Wiley Periodicals, Inc.
C1 [Bigler, Erin D.] Brigham Young Univ, Dept Psychol, Provo, UT 84602 USA.
[Bigler, Erin D.] Brigham Young Univ, Ctr Neurosci, Provo, UT 84602 USA.
[Bigler, Erin D.] Univ Utah, Dept Psychiat, Salt Lake City, UT USA.
[Bigler, Erin D.] Univ Utah, Brain Inst Utah, Salt Lake City, UT USA.
RP Bigler, ED (reprint author), Brigham Young Univ, Dept Psychol, 1001 SWKT, Provo, UT 84602 USA.
EM erin_bigler@byu.edu
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NR 11
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1545-5009
EI 1545-5017
J9 PEDIATR BLOOD CANCER
JI Pediatr. Blood Cancer
PD OCT
PY 2014
VL 61
IS 10
BP 1724
EP 1728
DI 10.1002/pbc.25110
PG 5
WC Oncology; Hematology; Pediatrics
SC Oncology; Hematology; Pediatrics
GA AN4ET
UT WOS:000340541100004
PM 24920351
ER
PT J
AU Lilley, R
AF Lilley, Rozanna
TI Professional guidance: maternal negotiation of primary school placement
for children diagnosed with autism
SO DISCOURSE-STUDIES IN THE CULTURAL POLITICS OF EDUCATION
LA English
DT Article
DE autism; mothers; experts; professional guidance; inclusion; exclusion
AB This article explores the different forms of professional guidance negotiated by mothers as they search for a primary school placement for their child diagnosed with autism. The intensely contested terrain of whether segregated or 'regular' classrooms would be 'better' for the child shapes the contours of both professional guidance and maternal decision-making. Interviews with 22 women whose children were about to start primary school in Sydney, Australia, allows an exploration of the ways women engage with or reject professional guidance, offered by paediatricians, psychologists, early intervention professionals, and education providers. Mothers frequently received conflicting professional guidance, and felt conflicted about their schooling decisions, especially when students are labelled 'borderline'. Overall, recent suggestions of a democratisation of autism expertise are not supported by this research, which underlines the need to analyse both the agency of mothers and the power differentials that continue to exist between families and experts.
C1 Macquarie Univ, Inst Early Childhood, Children & Families Res Ctr, N Ryde, NSW, Australia.
RP Lilley, R (reprint author), Macquarie Univ, Inst Early Childhood, Children & Families Res Ctr, N Ryde, NSW, Australia.
EM roselilley@fastmail.fm
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NR 26
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0159-6306
EI 1469-3739
J9 DISCOURSE-ABINGDON
JI Discourse
PD OCT
PY 2014
VL 35
IS 4
BP 513
EP 526
DI 10.1080/01596306.2013.871226
PG 14
WC Education & Educational Research
SC Education & Educational Research
GA AM8MW
UT WOS:000340130900004
ER
PT J
AU Sandman, CA
Head, K
Muftuler, LT
Su, L
Buss, C
Davis, EP
AF Sandman, Curt A.
Head, Kevin
Muftuler, L. Tugan
Su, Lydia
Buss, Claudia
Davis, Elysia Poggi.
TI Shape of the basal ganglia in preadolescent children is associated with
cognitive performance
SO NEUROIMAGE
LA English
DT Article
DE Basal ganglia; Putamen; Intelligence; Shape; Volume; Performance
ID VOXEL-BASED MORPHOMETRY; AUTISM SPECTRUM DISORDER; CORTICAL DEVELOPMENT;
FUNCTIONAL-ANATOMY; HEALTHY-CHILDREN; CAUDATE; VOLUME; BRAIN;
SCHIZOPHRENIA; THICKNESS
AB Current studies support the belief that high levels of performance and intellectual abilities are associated with increased brain size or volume. With few exceptions, this conclusion is restricted to studies of post-adolescent subjects and to cerebral cortex. There is evidence that "bigger is better" may not pertain to children and further, that there are areas of the brain in which larger structures are associated with cognitive deficits. In 50 preadolescent children (21 girls) a structural survey of the brain (VBM) was conducted to determine and locate areas in which gray matter volume was associated with poor cognitive performance. Only increased gray matter volume in particular areas of the basal ganglia and specifically the putamen was significantly associated with poor performance on tests of memory, response speed and a general marker and subtests of intelligence. Based on the VBM findings, volumetric analysis of basal ganglia structures was performed using FSL/FIRST. However, no significant changes in total volume of putamen or other basal ganglia structures were detected with this analysis. The disagreement between measures of localized gray matter differences and volumetric analysis suggested that there might be local regional deformity rather than widespread volumetric changes of the putamen. Surface analysis with FSL/FIRST demonstrated that bilateral outward deformation of the putamen, but especially the left, was associated with poor performance on several cognitive tests. Expansion of the globus pallidus and caudate nucleus also was associated with poor performance. Moreover a significant association was detected between a reliable test of language-free intelligence and topographically distinct outward and inward deformation of the putamen. Expansion and contraction of the putamen as a predictor of intelligence may explain why this association was not observed with measures of total volume. These results suggest that deformity is a sensitive measure of function, and that distortion of the basal ganglia may be a neurophenotype for risk of developmental impairment (C) 2014 Elsevier Inc. All rights reserved.
C1 [Sandman, Curt A.; Head, Kevin; Buss, Claudia; Davis, Elysia Poggi.] Univ Calif Irvine, Dept Psychiat & Human Behav, Early Human & Lifespan Dev Program, Orange, CA 92866 USA.
[Muftuler, L. Tugan] Med Coll Wisconsin, Dept Neurosurg, Milwaukee, WI USA.
[Su, Lydia] Univ Calif Irvine, Dept Radiol Sci, Orange, CA 92866 USA.
[Buss, Claudia] Univ Calif Irvine, Dept Pediat, Orange, CA 92866 USA.
[Davis, Elysia Poggi.] Univ Denver, Denver, CO 80208 USA.
[Buss, Claudia] Charite, Charite Centrum Human & Gesundheitswissensch, Inst Med Psychol, Berlin, Germany.
RP Sandman, CA (reprint author), Univ Calif Irvine, Dept Psychiat & Human Behav, Early Human & Lifespan Dev Program, One Univ Dr, Orange, CA 92866 USA.
EM casandma@uci.edu
FU National Institute of Health [NS-41298, HD-51852, HD-28413, HD-50662,
HD-65823]
FX This research was supported by the National Institute of Health grants
NS-41298, HD-51852 and HD-28413 to CAS and HD-50662 and HD-65823 to EPD.
The funding agencies did not contribute to the design of the study,
collection of the data, analysis and interpretation of the data, and
writing of the report or decision to submit this manuscript for
publication. The authors have no actual or potential personal or other
relationships that could inappropriately influence this work. We are
grateful for the expert assistance of Kendra Leak, Cheryl Crippen, Megan
Blair, Christina Canino and Natalie Hernandez and to the families who
participated in our studies.
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NR 63
TC 2
Z9 2
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1053-8119
EI 1095-9572
J9 NEUROIMAGE
JI Neuroimage
PD OCT 1
PY 2014
VL 99
BP 93
EP 102
DI 10.1016/j.neuroimage.2014.05.020
PG 10
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AM4XR
UT WOS:000339860000010
PM 24844741
ER
PT J
AU Reichow, B
Gelbar, NW
Mouradjian, K
Shefcyk, A
Smith, IC
AF Reichow, Brian
Gelbar, Nicholas W.
Mouradjian, Keri
Shefcyk, Allison
Smith, Isaac C.
TI Characteristics of international websites with information on
developmental disabilities
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Websites; Internet; Developmental disability; Autism; Autism spectrum
disorder; Down syndrome; Learning disability; Intellectual disability;
ADHD; Google; International
ID WORLD-WIDE-WEB; HEALTH INFORMATION; INTERNET; QUALITY; PARENTS;
CONSUMERS; SEARCH
AB The Internet often serves as a primary resource for individuals seeking health-related information, and a large and growing number of websites contain information related to developmental disabilities. This paper presents the results of an international evaluation of the characteristics and content of the top 10 ranked results (i.e., not including sponsored results - pay-per-click) returned when one of five terms related to developmental disabilities (i.e., ADHD, autism, down syndrome, learning disability, intellectual disability) was entered into one of six country specific Google online search engines (i.e., Australia (https://www.google.com.au), Canada (https://www.google.ca), Ireland (https://www.google.ie), New Zealand (https://www.google.co.nz), the United Kingdom (https://www.google.co.uk), and the United States (https://www.google.com)) on October 22, 2013. Collectively, we found that international consumers of websites related to developmental disabilities will encounter different websites with differing content and terminology, and should be critical consumers to ensure they locate the information they are seeking. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Reichow, Brian; Gelbar, Nicholas W.; Mouradjian, Keri; Shefcyk, Allison; Smith, Isaac C.] Univ Connecticut, Ctr Hlth, AJ Pappanikou Ctr Excellence Dev Disabil Communit, Farmington, CT USA.
RP Reichow, B (reprint author), 263 Farmington Ave,MC 6222, Farmington, CT 06030 USA.
EM reichow@uchc.edu
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NR 25
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 OCT
PY 2014
VL 35
IS 10
BP 2293
EP 2298
DI 10.1016/j.ridd.2014.05.028
PG 6
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AM2UD
UT WOS:000339705400005
PM 24952371
ER
PT J
AU Stuttard, L
Beresford, B
Clarke, S
Beecham, J
Todd, S
Bromley, J
AF Stuttard, Lucy
Beresford, Bryony
Clarke, Susan
Beecham, Jennifer
Todd, Samantha
Bromley, Jo
TI Riding the Rapids: Living with autism or disability-An evaluation of a
parenting support intervention for parents of disabled children
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism; Disability; Behaviour problems; Parent-training programme; Early
intervention; Prevention
ID MENTAL-HEALTH STATUS; RANDOMIZED CONTROLLED-TRIAL; STONES TRIPLE-P;
BEHAVIOR PROBLEMS; INTELLECTUAL DISABILITY; TRAINING INTERVENTIONS;
PSYCHOLOGICAL IMPACT; DEVELOPMENTAL DELAY; ECONOMIC-SITUATION; SPECTRUM
DISORDER
AB Evidence on the effectiveness of interventions to support parents of disabled children to manage their child's behaviour problems is limited. The aim of this study was to evaluate a group-delivered intervention (Riding the Rapids) which was specifically developed for parents of a child with a disability or autistic spectrum condition. This programme has been routinely delivered by a community-based mental health team across an urban, multi-ethnic locality for a number of years. A non-randomised controlled study design comprising an intervention group (n = 48) and comparator (no intervention) group (n = 28) was used to evaluate the effects of the intervention on child behaviour (Eyberg Child Behaviour Inventory: parent-set goals) and parenting efficacy and satisfaction (Parents Sense of Competence Scale) at post-intervention and six-month follow-up. Data on costs to the service provider of delivering the intervention were also collected. Receipt of the intervention was associated with significant reductions in parent-reported behaviour problems and significant improvements in parenting efficacy and satisfaction. At six-month follow-up, progress towards achieving parent-set child behaviour goals and parenting satisfaction had been maintained. Post hoc analysis suggests parents who do not have English as a first language may not benefit as much as other parents from this intervention. Findings suggest this is a promising intervention for parents of a child with a disability that is likely to be less resource intensive to service providers than individually delivered interventions. Limitations and implications for future research are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Stuttard, Lucy; Beresford, Bryony; Clarke, Susan] Univ York, Social Policy Res Unit, York YO10 5DD, N Yorkshire, England.
[Beecham, Jennifer] Univ Kent, Personal Social Serv Res Unit, Canterbury, Kent, England.
[Todd, Samantha; Bromley, Jo] Cent Manchester Univ Hosp NHS Fdn Trust, Manchester, Lancs, England.
RP Stuttard, L (reprint author), Univ York, Social Policy Res Unit, York YO10 5DD, N Yorkshire, England.
EM lucy.stuttard@york.ac.uk
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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 OCT
PY 2014
VL 35
IS 10
BP 2371
EP 2383
DI 10.1016/j.ridd.2014.05.021
PG 13
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AM2UD
UT WOS:000339705400012
PM 24973545
ER
PT J
AU King, D
Dockrell, J
Stuart, M
AF King, Diane
Dockrell, Julie
Stuart, Morag
TI Constructing fictional stories: A study of story narratives by children
with autistic spectrum disorder
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism; Narrative; Language impairment; Storytelling
ID ASPERGER-SYNDROME; LANGUAGE IMPAIRMENTS; STORYTELLING ABILITY;
INDIVIDUALS; COMMUNICATION; IMAGINATION; ADULTS; MIND
AB Children with autistic spectrum disorder (ASD) are reported to have difficulties with narrative language but little is known about how this affects their production of fictional stories. In this study, we aimed to establish whether fictional narratives of children with ASD differed from those of typically developing children and if performance was commensurate with levels of oral language. Fictional stories produced by 27 high functioning children with ASD, aged 11-14 yrs, were compared with those of language and age matched groups of typically developing children. Differences were found between the children with ASD and comparison groups in structural, evaluative and global features of their stories indicating specific difficulties with this form of narrative. Stories of the ASD group were shorter and contained fewer causal statements than those of both comparison groups and sentences were less grammatically complex than those of the age match but not the language match group. In global measures, the stories of the ASD group were impoverished relative to both comparison groups. The results are discussed in relation to cognitive theories of autism and language development. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [King, Diane; Dockrell, Julie; Stuart, Morag] Univ London, Inst Educ, London WC1E 7HU, England.
RP King, D (reprint author), Univ London, Inst Educ, London WC1E 7HU, England.
EM d.king@nfer.ac.uk
CR Bamberg G. W., 1997, NARRATIVE DEV 6 APPR
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Berman R. A., 1994, RELATING EVENTS NARR
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Siller M, 2014, RES AUTISM SPECT DIS, V8, P589, DOI 10.1016/j.rasd.2014.02.002
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TagerFlusberg H, 1996, J AUTISM DEV DISORD, V26, P169, DOI 10.1007/BF02172006
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WELSH MC, 1988, DEV NEUROPSYCHOL, V4, P199
NR 49
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 OCT
PY 2014
VL 35
IS 10
BP 2438
EP 2449
DI 10.1016/j.ridd.2014.06.015
PG 12
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AM2UD
UT WOS:000339705400019
PM 24981193
ER
PT J
AU Heyvaert, M
Saenen, L
Campbell, JM
Maes, B
Onghena, P
AF Heyvaert, Mieke
Saenen, Lore
Campbell, Jonathan M.
Maes, Bea
Onghena, Patrick
TI Efficacy of behavioral interventions for reducing problem,behavior in
persons with autism: An updated quantitative synthesis of single-subject
research
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Review
DE Meta-analysis; Single-case; Review; Challenging behavior; Problem
behavior; Intellectual disability
ID CHALLENGING BEHAVIOR; INTELLECTUAL DISABILITIES; MULTILEVEL
METAANALYSIS; SPECTRUM DISORDERS; TREATMENT VALIDITY; METHODOLOGY;
PERCENTAGE; STANDARDS; CHILDREN
AB Problem or challenging behaviors are highly prevalent among persons with autism and bring along major risks for the individual with autism and his/her family. In order to reduce the problem behavior, several behavioral interventions are used. We conducted a quantitative synthesis of single-subject studies to examine the efficacy of behavioral interventions for reducing problem behavior in persons with autism. Two hundred and thirteen studies representing 358 persons with autism met the inclusion criteria and were included in the statistical analyses. Overall, we found that behavioral interventions were on average effective in reducing problem behavior in individuals with autism, but some interventions were significantly more effective than others. The results further showed that the use of positive (nonaversive) behavioral interventions was increasing over time. The behavioral interventions were on average equally effective regardless of the type of problem behavior that was targeted. Interventions preceded by a functional analysis reduced problem behavior significantly more than interventions not preceded by a functional analysis. Finally, treatment and experimental characteristics, but not participant characteristics, were statistically significant moderators of the behavioral treatment effectiveness. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Heyvaert, Mieke; Saenen, Lore; Maes, Bea; Onghena, Patrick] Katholieke Univ Leuven, Fac Psychol & Educ Sci, Leuven, Belgium.
[Heyvaert, Mieke] Res Fdn Flanders, Brussels, Belgium.
[Campbell, Jonathan M.] Univ Kentucky, Dept Educ Sch & Counseling Psychol, Lexington, KY 40506 USA.
RP Heyvaert, M (reprint author), Methodol Educ Sci Res Grp, Andreas Vesaliusstr 2 Box 3762, B-3000 Louvain, Belgium.
EM Mieke.Heyvaert@ppw.kuleuven.be
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NR 28
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 OCT
PY 2014
VL 35
IS 10
BP 2463
EP 2476
DI 10.1016/j.ridd.2014.06.017
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AM2UD
UT WOS:000339705400021
PM 24992447
ER
PT J
AU Hauser, CT
Kover, ST
Abbeduto, L
AF Hauser, Claire T.
Kover, Sara T.
Abbeduto, Leonard
TI Maternal well-being and child behavior in families with fragile X
syndrome
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Fragile X syndrome; Mental health; Maternal outcomes; Child behavior
ID AUTISM SPECTRUM DISORDER; FMR1 PREMUTATION; YOUNG-CHILDREN; LIFE-STYLES;
MOTHERS; PHENOTYPE; STRESS; AGE; DISABILITIES; ADOLESCENTS
AB The purpose of this study was to examine the bidirectional relationships relationship between maternal mental health status, maternal stress, family environment and behavioral functioning of children with fragile X syndrome (FXS), the leading cause of inherited intellectual disability. Children with FXS commonly demonstrate challenging behavior related to anxiety, attention, and aggression, whereas mothers of children with FXS have been identified as susceptible to mental health challenges due to their status as genetic carriers of the FXS premutation, as well as the environmental stressors of raising children with special needs. The longitudinal design of this study builds upon prior work that established a concurrent relationship among these factors in families of children with other intellectual disorders. Findings indicated that maternal mental health status was not significantly related to changes in levels of child challenging behavior, heightened child challenging behavior was related to improvements in maternal depression over time, and heightened levels of child challenging behavior was related to increased feelings of maternal closeness toward the child over time. The unexpected nature of the results regarding maternal depression and closeness provides new and more complex hypotheses about how mothers of special needs children demonstrate adaptation and resilience. The findings have implications for maternal and familial mental health treatment as well as future research. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Hauser, Claire T.; Kover, Sara T.; Abbeduto, Leonard] Univ Wisconsin, Waisman Ctr, Madison, WI 53706 USA.
RP Abbeduto, L (reprint author), Univ Calif Davis, MIND Inst, 2825 50th St, Sacramento, CA 95817 USA.
EM leonard.abbeduto@ucdmc.ucdavis.edu
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NR 49
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 OCT
PY 2014
VL 35
IS 10
BP 2477
EP 2486
DI 10.1016/j.ridd.2014.06.012
PG 10
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AM2UD
UT WOS:000339705400022
PM 24984053
ER
PT J
AU Mahoney, EB
Breitborde, NJK
Leone, SL
Ghuman, JK
AF Mahoney, Emery B.
Breitborde, Nicholas J. K.
Leone, Sarah L.
Ghuman, Jaswinder Kaur
TI An examination of social interaction profiles based on the factors
measured by the Screen for Social Interaction
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism; Pervasive Developmental Disorder; Social; Screen for Social
Interaction
ID AUTISM SPECTRUM DISORDERS; RECEPTIVE LANGUAGE DISORDER; JOINT ATTENTION;
PRESCHOOL-CHILDREN; ADI-R; COMMUNICATION; DISABILITIES; DIAGNOSIS;
SKILLS; INDIVIDUALS
AB Deficits in the capacity to engage in social interactions are a core deficit associated with Autistic Disorder (AD) and Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS). These deficits emerge at a young age, making screening for social interaction deficits and interventions targeted at improving capacity in this area important for early identification and intervention. Screening and early intervention efforts are particularly important given the poor short and long term outcomes for children with Autism Spectrum Disorders (ASDs) who experience social interaction deficits. The Screen for Social Interaction (SSI) is a well-validated screening measure that examines a child's capacity for social interaction using a developmental approach. The present study identified four underlying factors measured by the SSI, namely, Connection with Caregiver, Interaction/Imagination, Social Approach/Interest, and Agreeable Nature. The resulting factors were utilized to compare social interaction profiles across groups of children with AD, PDD-NOS, children with non-ASD developmental and/or psychiatric conditions and typically developing children. The results indicate that children with AD and those with PDD-NOS had similar social interaction profiles, but were able to be distinguished from typically developing children on every factor and were able to be distinguished from children with non-ASD psychiatric conditions on every factor except the Connection with Caregiver factor. In addition, children with non-ASD developmental and/or psychiatric conditions could be distinguished from typically developing children on the Connection with Caregiver factor and the Social Approach/Interest factor. These findings have implications for screening and intervention for children with ASDs and non-ASD psychiatric conditions. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Mahoney, Emery B.] Univ Arizona, Dept Disabil & Psychoeduc Studies, Tucson, AZ 85721 USA.
[Breitborde, Nicholas J. K.] Univ Arizona, Med Ctr, Tucson, AZ 85721 USA.
[Leone, Sarah L.] Ohio State Univ, Nisonger Ctr, UAP, Columbus, OH 43210 USA.
[Ghuman, Jaswinder Kaur] Univ Arizona, Coll Med, Tucson, AZ 85721 USA.
[Ghuman, Jaswinder Kaur] Univ Pittsburgh, Med Ctr, Pittsburgh, PA 15260 USA.
RP Mahoney, EB (reprint author), Univ Arizona, Dept Disabil & Psychoeduc Studies, Tucson, AZ 85721 USA.
EM emerymahoney@gmail.com
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NR 39
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 OCT
PY 2014
VL 35
IS 10
BP 2487
EP 2494
DI 10.1016/j.ridd.2014.06.008
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AM2UD
UT WOS:000339705400023
PM 24992448
ER
PT J
AU Jose, JC
Perez-Gonzalez, LA
AF Julio Carnerero, Jose
Antonio Perez-Gonzalez, Luis
TI Induction of naming after observing visual stimuli and their names in
children with autism
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Naming; Pairing naming; Pairing; Emergence; Tacts; Picture selection;
Induction; Autism
ID YOUNG-CHILDREN; CONDITIONAL DISCRIMINATION; EQUIVALENCE-RELATIONS;
PRESCHOOL-CHILDREN; TRAINING PROCEDURE; LEARNING-SET; CATEGORIZATION;
LISTENER; BEHAVIOR; EMERGENCE
AB A novel procedure to induce pairing naming, considered the emergence of tacts and selection of pictures after observing names and its corresponding pictures without specific consequences, was probed in 4 persons with autism who lacked this capability with a multiple probe design across participants. Five pictures were selected per set. The participants observed the pictures on a computer screen while the experimenter said the name of the picture. Then, the emission of untaught uninstructed tacts of the pictures was tested without reinforcement. The cycle was repeated until a criterion of 90% correct responses was achieved. Thereafter, in probes without reinforcement, the participants tacted the pictures without specific instructions and also when asked to name them, and selected the correct picture upon hearing their names. The procedure was repeated with two additional stimulus sets and the probed relations emerged always. Two children showed the emergence with fewer trials across sets, which indicate emergence induction. Thus, the procedure served to test whether the pairing naming capability was missing and induced the capability. The results may have important utility in teaching persons diagnosed with autism and other learning difficulties and for accelerating learning in all children. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Julio Carnerero, Jose; Antonio Perez-Gonzalez, Luis] Ctr Almudaris, Cordoba, Spain.
[Julio Carnerero, Jose; Antonio Perez-Gonzalez, Luis] Univ Oviedo, Dept Psychol, Oviedo 33003, Spain.
RP Perez-Gonzalez, LA (reprint author), Univ Oviedo, Dept Psychol, Plaza Feijoo S-N, Oviedo 33003, Spain.
EM laperez@uniovi.es
RI Perez-Gonzalez, Luis/L-2338-2014
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NR 57
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 OCT
PY 2014
VL 35
IS 10
BP 2514
EP 2526
DI 10.1016/j.ridd.2014.06.004
PG 13
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AM2UD
UT WOS:000339705400026
ER
PT J
AU Roy, P
Chiat, S
AF Roy, P.
Chiat, S.
TI Developmental, pathways of language and social communication problems in
9-11 year olds: Unpicking the heterogeneity
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Language impairment; Social communication problems; Autistic spectrum
disorders; Social Emotional and behavioural difficulties; Developmental
trajectories; Follow-up study
ID AUTISM DIAGNOSTIC INTERVIEW; SPECTRUM DISORDERS; FOLLOW-UP; IMPAIRMENT;
CHILDREN; CLASSIFICATION; OUTCOMES; AGE; PSYCHOPATHOLOGY; RESPONSIVENESS
AB This paper addressed relations between language, social communication and behaviour, and their trajectories, in a sample of 9-11-year-olds (n = 91) who had been referred to clinical services with concerns about language as pre-schoolers. Children were first assessed at 21/2-4 years, and again 18 months later.
Results revealed increasing differentiation of profiles across time. By 9-11 years, 11% of the sample had social communication deficits, 27% language impairment, 20% both, and 42% neither. The size of group differences on key language and social communication measures was striking (2-3 standard deviations). Social communication deficits included autistic mannerisms and were associated with social, emotional and behavioural difficulties (SEBDs); in contrast, language impairment was associated with hyperactivity only. Children with both language and social communication problems had the most severe difficulties on all measures.
These distinct school-age profiles emerged gradually. Investigation of developmental trajectories revealed that the three impaired groups did not differ significantly on language or SEBD measures when the children were first seen. Only low performance on the Early Sociocognitive Battery, a new measure of social responsiveness, joint attention and symbolic understanding, differentiated the children with and without social communication problems at 9-11 years. These findings suggest that some children who first present with language delay or difficulties have undetected Autism Spectrum Disorders which may or may not be accompanied by language impairment in the longer term. This new evidence of developmental trajectories starting in the preschool years throws further light on the nature of social communication and language problems in school-age children, relations between language impairment and SEBDs, and on the nature of early language development. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Roy, P.; Chiat, S.] City Univ London, London EC1V 0HB, England.
RP Roy, P (reprint author), City Univ London, London EC1V 0HB, England.
EM p.j.roy@city.ac.uk
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Yang PC, 2010, RES DEV DISABIL, V31, P895, DOI 10.1016/j.ridd.2010.02.011
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NR 52
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 OCT
PY 2014
VL 35
IS 10
BP 2534
EP 2546
DI 10.1016/j.ridd.2014.06.014
PG 13
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AM2UD
UT WOS:000339705400028
PM 25005063
ER
PT J
AU Choi, CS
Hong, M
Kim, KC
Kim, JW
Yang, SM
Seung, H
Ko, MJ
Choi, DH
You, JS
Shin, CY
Bahn, GH
AF Choi, Chang Soon
Hong, Minha
Kim, Ki Chan
Kim, Ji-Woon
Yang, Sung Min
Seung, Hana
Ko, Mee Jung
Choi, Dong-Hee
You, Jueng Soo
Shin, Chan Young
Bahn, Geon Ho
TI Effects of Atomoxetine on Hyper-Locomotive Activity of the Prenatally
Valproate-Exposed Rat Offspring
SO BIOMOLECULES & THERAPEUTICS
LA English
DT Article
DE Valproic acid; Autism; Hyperactivity; Norepinephrine transporter;
Atomoxetine
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY
DISORDER; PERVASIVE DEVELOPMENTAL DISORDERS; TRANSPORTER KNOCKOUT MICE;
AUTISM SPECTRUM DISORDERS; ANIMAL-MODEL; DOPAMINE TRANSPORTER;
PREFRONTAL CORTEX; PSYCHIATRIC-DISORDERS; GENE-EXPRESSION
AB A substantial proportion of patients with autism spectrum disorder (ASD) display hyperactivity as a comorbid symptom. Exposure to valproic acid (VPA) during pregnancy produces ASD-like core behavioral phenotypes as well as hyperactivity in offspring both in human and experimental animals, which makes it a plausible model to study ASD-related neurobiological processes. In this study, we examined the effects of two of currently available attention defecit hyperactivity disorder (ADHD) medications, methylphenidate (MPH) and atomoxetine (ATX) targeting dopamine and norepinephrine transporters (DAT and NET), respectively, on hyperactive behavior of prenatally VPA-exposed rat offspring. In the prefrontal cortex of VPA exposed rat offspring, both mRNA and protein expression of DAT was increased as compared with control. VPA function as a histone deacetylase inhibitor (HDACi) and chromatin immunoprecipitation experiments demonstrated that the acetylation of histone bound to DAT gene promoter was increased in VPA-exposed rat offspring suggesting epigenetic mechanism of DAT regulation. Similarly, the expression of NET was increased, possibly via increased histone acetylation in prefrontal cortex of VPA-exposed rat offspring. When we treated the VPA-exposed rat offspring with ATX, a NET selective inhibitor, hyperactivity was reversed to control level. In contrast, MPH that inhibits both DAT and NET, did not produce inhibitory effects against hyperactivity. The results suggest that NET abnormalities may underlie the hyperactive phenotype in VPA animal model of ASD. Profiling the pharmacological responsiveness as well as investigating underlying mechanism in multiple models of ASD and ADHD may provide more insights into the neurobiological correlates regulating the behavioral abnormalities.
C1 [Choi, Chang Soon; Kim, Ki Chan; Kim, Ji-Woon; Yang, Sung Min; Seung, Hana; Ko, Mee Jung; Choi, Dong-Hee; You, Jueng Soo; Shin, Chan Young] SMART Inst Adv Biomed Sci, Dept Neurosci, Seoul 143701, South Korea.
[Choi, Chang Soon; Kim, Ji-Woon; Yang, Sung Min; Seung, Hana; Ko, Mee Jung; Shin, Chan Young] SMART Inst Adv Biomed Sci, Neurosci Res Ctr, Seoul 143701, South Korea.
[Choi, Chang Soon; Kim, Ji-Woon; Yang, Sung Min; Seung, Hana; Ko, Mee Jung; Shin, Chan Young] Konkuk Univ, Sch Med, Dept Adv Translat Med Sci, Seoul 143701, South Korea.
[Kim, Ki Chan] Seoul Natl Univ, Dept Pharmacol, Coll Pharm, Seoul 151742, South Korea.
[Hong, Minha] Dankook Univ Hosp, Sch Med, Dept Psychiat, Cheonan 330715, South Korea.
[Hong, Minha; Bahn, Geon Ho] Kyung Hee Univ, Sch Med, Dept Neuropsychiat, Seoul 130702, South Korea.
RP Bahn, GH (reprint author), Kyung Hee Univ, Sch Med, Dept Neuropsychiat, Seoul 130702, South Korea.
EM mompeian@khu.ac.kr
FU Korean Health Technology R&D Project, Ministry of Health & Welfare,
Republic of Korea [A120029]
FX The authors declare no conflict of interest. This work was supported by
a grant of the Korean Health Technology R&D Project, Ministry of Health
& Welfare, Republic of Korea (No. A120029).
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NR 50
TC 0
Z9 0
PU KOREAN SOC APPLIED PHARMACOLOGY
PI SEOUL
PA RM 805, KOREAN FEDERATION SCIENCE & TECHNOLOGY B/D, 635-4 YEOKSAM-DONG,
KANGNAM-GU, SEOUL, 135-703, SOUTH KOREA
SN 1976-9148
EI 2005-4483
J9 BIOMOL THER
JI Biomol. Ther.
PD SEP 30
PY 2014
VL 22
IS 5
BP 406
EP 413
DI 10.4062/biomolther.2014.027
PG 8
WC Biochemistry & Molecular Biology; Pharmacology & Pharmacy
SC Biochemistry & Molecular Biology; Pharmacology & Pharmacy
GA AQ5NP
UT WOS:000342856200005
PM 25414770
ER
PT J
AU Joyal, CC
Jacob, L
Cigna, MH
Guay, JP
Renaud, P
AF Joyal, Christian C.
Jacob, Laurence
Cigna, Marie-Helene
Guay, Jean-Pierre
Renaud, Patrice
TI Virtual faces expressing emotions: an initial concomitant and construct
validity study
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE virtual; facial; expressions; emotions; validation
ID DYNAMIC FACIAL EXPRESSIONS; ELECTROMYOGRAPHIC ACTIVITY; RECOGNITION;
VALIDATION; RESPONSES; MIMICRY; AUTISM; SET; EMG; PSYCHOPATHY
AB Background: Facial expressions of emotions represent classic stimuli for the study of social cognition. Developing virtual dynamic facial expressions of emotions, however, would open-up possibilities, both for fundamental and clinical research. For instance, virtual faces allow real-time Human Computer retroactions between physiological measures and the virtual agent.
Objectives:The goal of this study was to initially assess concomitants and construct validity of a newly developed set of virtual faces expressing six fundamental emotions (happiness, surprise, anger, sadness, fear, and disgust). Recognition rates, facial electromyography (zygomatic major and corrugator supercilii muscles), and regional gaze fixation latencies (eyes and mouth regions) were compared in 41 adult volunteers (20 male, 21 female) during the presentation of video clips depicting real vs. virtual adults expressing emotions.
Results: Emotions expressed by each set of stimuli were similarly recognized, both by men and women. Accordingly, both sets of stimuli elicited similar activation of facial muscles and similar ocular fixation times in eye regions from man and woman participants.
Conclusion: Further validation studies can be performed with these virtual faces among clinical populations known to present social cognition difficulties. Brain Computer Interface studies with feedback-feedforward interactions based on facial emotion expressions can also be conducted with these stimuli.
C1 [Joyal, Christian C.; Jacob, Laurence] Univ Quebec Trois Rivieres, Dept Psychol, Trois Rivieres, PQ G9A 5H7, Canada.
[Joyal, Christian C.; Guay, Jean-Pierre; Renaud, Patrice] Philippe Pinel Inst Montreal, Res Ctr, Montreal, PQ, Canada.
[Cigna, Marie-Helene; Guay, Jean-Pierre] Univ Montreal, Dept Criminol, Montreal, PQ, Canada.
[Renaud, Patrice] Univ Quebec Outaouais, Dept Psychol, Gatineau, PQ, Canada.
RP Joyal, CC (reprint author), Univ Quebec Trois Rivieres, 3351 Boul Des Forges,CP 500, Trois Rivieres, PQ G9A 5H7, Canada.
EM christian.joyal@uqtr.ca
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NR 53
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 SEP 30
PY 2014
VL 8
AR 787
DI 10.3389/fnhum.2014.00787
PG 6
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AP8PE
UT WOS:000342340100001
PM 25324768
ER
PT J
AU Ingalhalikar, M
Parker, WA
Bloy, L
Roberts, TPL
Verma, R
AF Ingalhalikar, Madhura
Parker, William A.
Bloy, Luke
Roberts, Timothy P. L.
Verma, Ragini
TI Creating multimodal predictors using missing data: Classifying and
subtyping autism spectrum disorder
SO JOURNAL OF NEUROSCIENCE METHODS
LA English
DT Article
DE Magnetoencephalography; Diffusion tensor imaging; Autism spectrum
disorder; Pattern classification; Language impairment; Missing data
ID LANGUAGE IMPAIRMENT; WHITE-MATTER; HUMAN BRAIN; CLASSIFICATION;
BIOMARKER; BEHAVIOR
AB Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by wide range of symptoms and severity including domains such as language impairment (LI). This study aims to create a quantifiable marker of ASD and a stratification marker for LI using multimodality imaging data that can handle missing data by including subjects that fail to complete all the aspects of a multimodality imaging study, obviating the need to remove subjects with incomplete data, as is done by conventional methods.
Methods: An ensemble of classifiers with several subsets of complete data is employed. The outputs from such subset classifiers are fused using a weighted aggregation giving an aggregate probabilistic score for each subject. Such fusion classifiers are created to obtain a marker for ASD and to stratify LI using three categories of features, two extracted from separate auditory tasks using magnetoencephalography (MEG) and the third extracted from diffusion tensor imaging (DTI).
Results: A clear distinction between ASD and neurotypical controls (5-fold accuracy of 83.3% and testing accuracy of 87%) and between ASD/+LI and ASD/-LI (5-fold accuracy of 70.1% and testing accuracy of 61.1%) was obtained. One of the MEG features, mismatch field (MMF) latency contributed the most to group discrimination, followed by DTI features from superior temporal white matter and superior longitudinal fasciculus as determined by feature ranking.
Comparison with existing methods: Higher classification accuracy was achieved in comparison with single modality classifiers.
Conclusion: This methodology can be readily applied in large studies where high percentage of missing data is expected. (C) 2014 Elsevier By. All rights reserved.
C1 [Ingalhalikar, Madhura; Parker, William A.; Verma, Ragini] Univ Penn, Dept Radiol, Sect Biomed Image Anal, Philadelphia, PA 19104 USA.
[Bloy, Luke; Roberts, Timothy P. L.] Childrens Hosp Philadelphia, Dept Radiol, Lurie Family Fdn MEG Imaging Ctr, Philadelphia, PA 19104 USA.
RP Ingalhalikar, M (reprint author), Dept Radiol, Sect Biomed Image Anal, 3600 Market St,Suite 380, Philadelphia, PA 19104 USA.
EM Madhura.Ingalhalikar@uphs.upenn.edu; William.Parker@uphs.upenn.edu;
Luke.Bloy@uphs.upenn.edu; robertstim@email.chop.edu;
Ragini.Verma@uphs.upenn.edu
FU NIH [R01-MH092862, R01-DC008871, P30-HD026979]; Macyszyn Fund for
Advances in Science
FX This research was supported by the NIH grants R01-MH092862 (RV),
R01-DC008871 (TR) and P30-HD026979 as well as the Macyszyn Fund for
Advances in Science. Dr. Roberts thanks the Oberkircher family for the
Oberkircher Family Chair in Pediatric Radiology. The authors would like
to thank Yasser Ghanbari for his participation in the discussions.
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NR 34
TC 0
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-0270
EI 1872-678X
J9 J NEUROSCI METH
JI J. Neurosci. Methods
PD SEP 30
PY 2014
VL 235
BP 1
EP 9
DI 10.1016/j.jneumeth.2014.06.030
PG 9
WC Biochemical Research Methods; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AP7PO
UT WOS:000342269400001
PM 24983132
ER
PT J
AU N'Gouemo, P
AF N'Gouemo, Prosper
TI BKCa channel dysfunction in neurological diseases
SO FRONTIERS IN PHYSIOLOGY
LA English
DT Review
DE autism; alcohol withdrawal seizures; epilepsy; gain-of-function;
loss-of-function
ID ACTIVATED POTASSIUM CHANNEL; CA2+-ACTIVATED K+ CHANNELS; HIPPOCAMPAL
PYRAMIDAL CELLS; TEMPORAL-LOBE EPILEPSY; INFERIOR COLLICULUS NEURONS;
PROTEIN-KINASE-C; RAT-BRAIN; NERVE-TERMINALS; BETA-SUBUNIT;
EXTRACELLULAR POTASSIUM
AB The large conductance, Ca2+-activated K+ channels (BKCa, K-Ca1.1) are expressed in various brain neurons where they play important roles in regulating action potential duration, firing frequency and neurotransmitter release. Membrane potential depolarization and rising levels of intracellular Ca2+ gated BKCa channels, which in turn results in an outward K+ flux that re/hyperpolarizes the membrane. The sensitivity of BKCa channels to Ca2+ provides an important negative-feedback system for Ca2+ entry into brain neurons and suppresses repetitive firing. Thus, BKca channel loss-of-function gives rise to neuronal hyperexcitability, which can lead to seizures. Evidence also indicates that BKca channels can facilitate high-frequency firing (gain-of-function) in some brain neurons. Interestingly, both gain-of-function and loss-of-function mutations of genes encoding for various BKca channel subunits have been associated with the development of neuronal excitability disorders, such as seizure disorders. The role of BKca channels in the etiology of some neurological diseases raises the possibility that these channels can be used as molecular targets to prevent and suppress disease phenotypes.
C1 Georgetown Univ, Med Ctr, Interdisciplinary Program Neurosci, Dept Pediat, Washington, DC 20057 USA.
RP N'Gouemo, P (reprint author), Georgetown Univ, Med Ctr, Interdisciplinary Program Neurosci, Dept Pediat, 3900 Reservoir Rd, Washington, DC 20057 USA.
EM pn@georgetown.edu
FU NIH Public Health Service Grant [AA020073]
FX This work was supported by the NIH Public Health Service Grant AA020073.
The author would like to thank Dr. Gholam Motamedi for helpful
discussions and critical reading.
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NR 63
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-042X
J9 FRONT PHYSIOL
JI Front. Physiol.
PD SEP 29
PY 2014
VL 5
DI 10.3389/fphys.2014.00373
PG 6
WC Physiology
SC Physiology
GA AX7KH
UT WOS:000347094400001
PM 25324781
ER
PT J
AU Bompard, L
Xu, S
Styner, M
Paniagua, B
Ahn, M
Yuan, Y
Jewells, V
Gao, W
Shen, DG
Zhu, HT
Lin, WL
AF Bompard, Lucile
Xu, Shun
Styner, Martin
Paniagua, Beatriz
Ahn, Mihye
Yuan, Ying
Jewells, Valerie
Gao, Wei
Shen, Dinggang
Zhu, Hongtu
Lin, Weili
TI Multivariate Longitudinal Shape Analysis of Human Lateral Ventricles
during the First Twenty-Four Months of Life
SO PLOS ONE
LA English
DT Article
ID BRAIN-DEVELOPMENT; PRETERM INFANTS; NEONATAL BRAIN; AUTISM; MRI;
SCHIZOPHRENIA; CHILDREN; VOLUME; SEGMENTATION; REGISTRATION
AB Background: Little is known about the temporospatial shape characteristics of human lateral ventricles (LVs) during the first two years of life. This study aimed to delineate the morphological growth characteristics of LVs during early infancy using longitudinally acquired MR images in normal healthy infants.
Methods: 24 healthy infants were MR imaged starting from 2 weeks old every 3 months during the first and every 6 months during the second year. Bilateral LVs were segmented and longitudinal morphological and shape analysis were conducted using longitudinal mixed effect models.
Results: A significant bilateral ventricular volume increase (p<0.0001) is observed in year one (Left: 126 +/- 51% and Right: 145 +/- 62%), followed by a significant reduction (p<0.02) during the second year of life (Left: -24 +/- 27% and Right: -20 +/- 18%) despite the continuing increase of intracranial volume. Morphological analysis reveals that the ventricular growth is spatially non-uniform, and that the most significant growth occurs during the first 6 months. The first 3 months of life exhibit a significant (p<0.01) bilateral lengthening of the anterior lateral ventricle and a significant increase of radius (p<0.01) and area (p<0.01) at the posterior portion of the ventricle. Shape analysis shows that the horns exhibit a faster growth rate than the mid-body. Finally, bilateral significant age effects (p<0.01) are observed for the growth of LVs whereas gender effects are more subtle and significant effects (p<0.01) only present at the left anterior and posterior horns. More importantly, both the age and gender effects are growth directionally dependent.
Conclusions: We have demonstrated the temporospatial shape growth characteristics of human LVs during the first two years of life using a unique longitudinal MR data set. A temporally and spatially non-uniform growth pattern was reported. These normative results could provide invaluable information to discern abnormal growth patterns in patients with neurodevelopmental disorders.
C1 [Bompard, Lucile; Gao, Wei; Shen, Dinggang; Zhu, Hongtu; Lin, Weili] Univ N Carolina, Biomed Res Imaging Ctr, Chapel Hill, NC 27599 USA.
[Xu, Shun; Styner, Martin; Paniagua, Beatriz] Univ N Carolina, Dept Comp Sci, Chapel Hill, NC USA.
[Styner, Martin; Paniagua, Beatriz] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA.
[Ahn, Mihye; Zhu, Hongtu] Univ N Carolina, Dept Biostat, Chapel Hill, NC USA.
[Yuan, Ying] St Jude Childrens Res Hosp, Dept Biostat, Memphis, TN 38105 USA.
[Jewells, Valerie; Gao, Wei; Shen, Dinggang; Lin, Weili] Univ N Carolina, Dept Radiol, Chapel Hill, NC USA.
RP Lin, WL (reprint author), Univ N Carolina, Biomed Res Imaging Ctr, Chapel Hill, NC 27599 USA.
EM weili_lin@med.unc.edu
FU National Institutes of Health (NIH) [R01NS055754, RR025747-01,
P01CA142538-01, MH086633, EB005149-01]
FX This work was supported in part by grants from the National Institutes
of Health (NIH): R01NS055754, RR025747-01, P01CA142538-01, MH086633 and
EB005149-01. 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 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 29
PY 2014
VL 9
IS 9
AR e108306
DI 10.1371/journal.pone.0108306
PG 11
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AU6XR
UT WOS:000345745400064
PM 25265017
ER
PT J
AU Curatolo, P
Ben-Ari, Y
Bozzi, Y
Catania, MV
D'Angelo, E
Mapelli, L
Oberman, LM
Rosenmund, C
Cherubini, E
AF Curatolo, Paolo
Ben-Ari, Yehezkel
Bozzi, Yuri
Catania, Maria Vincenza
D'Angelo, Egidio
Mapelli, Lisa
Oberman, Lindsay M.
Rosenmund, Christian
Cherubini, Enrico
TI Synapses as therapeutic targets for autism spectrum disorders: an
international symposium held in Pavia on July 4th, 2014
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Article
DE ASDs; animal models; synapse; therapeutic target; GABAergic signaling
ID FRAGILE-X-SYNDROME; MUTANT MICE; NEUROLOGICAL DISORDERS; PATHOGENETIC
PATHWAYS; MOUSE MODEL; TRANSMISSION; DYSFUNCTION; INHIBITION; NUMBER;
CORTEX
AB New progresses into the molecular and cellular mechanisms of autism spectrum disorders (ASDs) have been discussed in 1 day international symposium held in Pavia (Italy) on July 4th, 2014 entitled "synapses as therapeutic targets for autism spectrum disorders" (satellite of the FENS Forum for Neuroscience, Milan, 2014). In particular, world experts in the field have highlighted how animal models of ASDs have greatly advanced our understanding of the molecular pathways involved in synaptic dysfunction leading sometimes to "synaptic clinical trials" in children.
C1 [Curatolo, Paolo] Univ Roma Tor Vergata, Dept Neurosci, Pediat Neurolo Unit, Rome, Italy.
[Ben-Ari, Yehezkel] INSERM, Mediterranean Inst Neurobiol INMED, F-13258 Marseille, France.
[Bozzi, Yuri] Univ Trento, CNR, Ctr Integrat Biol CIBIO, Inst Neurosci, Trento, Italy.
[Bozzi, Yuri] Univ Trento, Lab Mol Neuropathol, Ctr Integrat Biol CIBIO, Trento, Italy.
[Catania, Maria Vincenza] CNR, Inst Neurol Sci ISN, Catania, Italy.
[Catania, Maria Vincenza] Ist Ricovero & Cura Carattere Sci Oasi Maria SS, Neurobiol Lab, Troina, Italy.
[D'Angelo, Egidio; Mapelli, Lisa] Univ Pavia, Dept Brain & Behav Sci, I-27100 Pavia, Italy.
[D'Angelo, Egidio] Neurol Inst Ist Ricovero & Cura Carattere Sci Mon, Brain Connect Ctr, Pavia, Italy.
[Oberman, Lindsay M.] Brown Univ, Dept Psychiat & Human Behav, Warren Alpert Med Sch, Providence, RI 02912 USA.
[Rosenmund, Christian] Charite, Neurosci Res Ctr, D-13353 Berlin, Germany.
[Rosenmund, Christian] Charite, NeuroCure Cluster Excellence, D-13353 Berlin, Germany.
[Cherubini, Enrico] SISSA, Int Sch Adv Studies, I-34014 Trieste, Italy.
[Cherubini, Enrico] European Brain Res Inst, Rome, Italy.
RP Cherubini, E (reprint author), SISSA, Via Bonomea 265, I-34136 Trieste, Italy.
EM cher@sissa.it
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NR 31
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5102
J9 FRONT CELL NEUROSCI
JI Front. Cell. Neurosci.
PD SEP 29
PY 2014
VL 8
AR 309
DI 10.3389/fncel.2014.00309
PG 4
WC Neurosciences
SC Neurosciences & Neurology
GA AS7YY
UT WOS:000344469000001
PM 25324723
ER
PT J
AU Balconi, M
Vanutelli, ME
Finocchiaro, R
AF Balconi, Michela
Vanutelli, Maria Elide
Finocchiaro, Roberta
TI Multilevel analysis of facial expressions of emotion and script:
self-report (arousal and valence) and psychophysiological correlates
SO BEHAVIORAL AND BRAIN FUNCTIONS
LA English
DT Article
DE Facial expression of emotion; EMG; Valence; Psychophysiology
ID BRAIN POTENTIALS; CARDIAC RESPONSES; STARTLE REFLEX; FILM STIMULI;
CHILDREN; AUTISM; RECOGNITION; BEHAVIOR; MODULATION; GUIDELINES
AB Background: The paper explored emotion comprehension in children with regard to facial expression of emotion. The effect of valence and arousal evaluation, of context and of psychophysiological measures was monitored. Indeed subjective evaluation of valence (positive vs. negative) and arousal (high vs. low), and contextual (facial expression vs. facial expression and script) variables were supposed to modulate the psychophysiological responses.
Methods: Self-report measures (in terms of correct recognition, arousal and valence attribution) and psychophysiological correlates (facial electromyography, EMG, skin conductance response, SCR, and heart rate, HR) were observed when children (N = 26; mean age = 8.75 y; range 6-11 y) looked at six facial expressions of emotions (happiness, anger, fear, sadness, surprise, and disgust) and six emotional scripts (contextualized facial expressions). The competencies about the recognition, the evaluation on valence and arousal was tested in concomitance with psychophysiological variations. Specifically, we tested for the congruence of these multiple measures.
Results: Log-linear analysis and repeated measure ANOVAs showed different representations across the subjects, as a function of emotion. Specifically, children' recognition and attribution were well developed for some emotions (such as anger, fear, surprise and happiness), whereas some other emotions (mainly disgust and sadness) were less clearly represented. SCR, HR and EMG measures were modulated by the evaluation based on valence and arousal, with increased psychophysiological values mainly in response to anger, fear and happiness.
Conclusions: As shown by multiple regression analysis, a significant consonance was found between self-report measures and psychophysiological behavior, mainly for emotions rated as more arousing and negative in valence. The multilevel measures were discussed at light of dimensional attribution model.
C1 [Balconi, Michela; Vanutelli, Maria Elide; Finocchiaro, Roberta] Univ Catholic Sacro Cuore, Dept Psychol, Res Unit Affect & Social Neurosci, I-20123 Milan, Italy.
RP Balconi, M (reprint author), Univ Catholic Sacro Cuore, Dept Psychol, Res Unit Affect & Social Neurosci, Milan Largo Gemelli 1, I-20123 Milan, Italy.
EM michela.balconi@unicatt.it
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NR 61
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 SEP 26
PY 2014
VL 10
AR 32
DI 10.1186/1744-9081-10-32
PG 14
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AS8GR
UT WOS:000344488400001
PM 25261242
ER
PT J
AU Lampen, J
Jones, K
McAuley, JD
Chang, SE
Wade, J
AF Lampen, Jennifer
Jones, Katherine
McAuley, J. Devin
Chang, Soo-Eun
Wade, Juli
TI Arrhythmic Song Exposure Increases ZENK Expression in Auditory Cortical
Areas and Nucleus Taeniae of the Adult Zebra Finch
SO PLOS ONE
LA English
DT Article
ID SOCIAL-BEHAVIOR NETWORK; GENE-EXPRESSION; CONTROL-SYSTEM; BASAL GANGLIA;
CAUDOMEDIAL NEOSTRIATUM; SEXUAL-DIFFERENTIATION; REARING ENVIRONMENT;
NEURAL MECHANISMS; GROWTH-FACTORS; HUMAN SPEECH
AB Rhythm is important in the production of motor sequences such as speech and song. Deficits in rhythm processing have been implicated in human disorders that affect speech and language processing, including stuttering, autism, and dyslexia. Songbirds provide a tractable model for studying the neural underpinnings of rhythm processing due to parallels with humans in neural structures and vocal learning patterns. In this study, adult zebra finches were exposed to naturally rhythmic conspecific song or arrhythmic song. Immunohistochemistry for the immediate early gene ZENK was used to detect neural activation in response to these two types of stimuli. ZENK was increased in response to arrhythmic song in the auditory association cortex homologs, caudomedial nidopallium (NCM) and caudomedial mesopallium (CMM), and the avian amygdala, nucleus taeniae (Tn). CMM also had greater ZENK labeling in females than males. The increased neural activity in NCM and CMM during perception of arrhythmic stimuli parallels increased activity in the human auditory cortex following exposure to unexpected, or perturbed, auditory stimuli. These auditory areas may be detecting errors in arrhythmic song when comparing it to a stored template of how conspecific song is expected to sound. CMM may also be important for females in evaluating songs of potential mates. In the context of other research in songbirds, we suggest that the increased activity in Tn may be related to the value of song for assessing mate choice and bonding or it may be related to perception of arrhythmic song as aversive.
C1 [Lampen, Jennifer; McAuley, J. Devin; Wade, Juli] Michigan State Univ, Neurosci Program, E Lansing, MI 48824 USA.
[Jones, Katherine; McAuley, J. Devin; Wade, Juli] Michigan State Univ, Dept Psychol, E Lansing, MI 48824 USA.
[Chang, Soo-Eun] Univ Michigan, Dept Psychiat, Ann Arbor, MI 48109 USA.
RP Lampen, J (reprint author), Michigan State Univ, Neurosci Program, E Lansing, MI 48824 USA.
EM lampenje@msu.edu
FU GRAMMY Foundation; Michigan State University's program for Research in
Autism, Intellectual and Neurodevelopmental Disabilities (RAIND);
National Institutes of Health [R01-MH096705]
FX This work was supported by the GRAMMY Foundation, Michigan State
University's program for Research in Autism, Intellectual and
Neurodevelopmental Disabilities (RAIND), and National Institutes of
Health R01-MH096705. 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 89
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 26
PY 2014
VL 9
IS 9
AR e108841
DI 10.1371/journal.pone.0108841
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AQ3IP
UT WOS:000342685600103
PM 25259620
ER
PT J
AU Al-Zaid, FS
Alhader, AA
Al-Ayadhi, LY
AF Al-Zaid, Felwah S.
Alhader, AbdelFattah A.
Al-Ayadhi, Laila Y.
TI Altered ghrelin levels in boys with autism: a novel finding associated
with hormonal dysregulation
SO SCIENTIFIC REPORTS
LA English
DT Article
ID LEPTIN LEVELS; ADIPONECTIN LEVELS; BODY-COMPOSITION; OBESE CHILDREN;
PLASMA LEPTIN; NORMAL-WEIGHT; SERUM-LEVELS; ADULTS; SEX; GH
AB Autism is a neurodevelopmental disorder with unclear pathogenesis. Many clinical observations and hormone studies have suggested the involvement of the neuroprotective hormone ghrelin in autism. The current study aimed to investigate the potential role of ghrelin in autism and to elucidate the associated hormonal dysregulation. This case-control study investigated acyl ghrelin (AG), des-acyl ghrelin (DG), total testosterone (TT), free testosterone (FT), leptin and growth hormone (GH) levels in 31 male children with autism and 28 healthy age and sex-matched controls. Hormone levels were measured in the blood using enzyme-linked immunosorbent assay and chemiluminescence immunoassay kits. AG, DG and GH levels were significantly lower in the autism group than in the control group (p <= 0.001, p <= 0.005 and p <= 0.05, respectively). However, TT, FT and leptin levels were significantly higher in the autism group than in the control group (p <= 0.05, p <= 0.001 and p <= 0.01, respectively). Our results for the first time demonstrate low AG and DG levels in autistic children. Considering the capacity of ghrelin to affect neuroinflammatory and apoptotic processes that are linked to autism, this study suggests a potential role for the hormone ghrelin in the pathogenesis of autism.
C1 [Al-Zaid, Felwah S.; Alhader, AbdelFattah A.; Al-Ayadhi, Laila Y.] King Saud Univ, Coll Med, Dept Physiol, Riyadh 11461, Saudi Arabia.
[Al-Zaid, Felwah S.; Al-Ayadhi, Laila Y.] King Saud Univ, Coll Med, AL Amodi Autism Res Chair, Autism Res & Treatment Ctr, Riyadh 11461, Saudi Arabia.
RP Al-Zaid, FS (reprint author), King Saud Univ, Coll Med, Dept Physiol, Riyadh 11461, Saudi Arabia.
EM D_fl329@hotmail.com
FU Autism Research and Treatment Center; Al-Amoudi Chair for Autism
Research at King Khalid Hospital, King Saud University, Riyadh, Saudi
Arabia; King Abdul Aziz City for Science and Technology (KACST);
National Plan for Science and Technology (NPST) at King Saud University;
central lab at KKHU
FX We give special thanks to the Autism Research and Treatment Center and
the Al-Amoudi Chair for Autism Research at King Khalid Hospital, King
Saud University, Riyadh, Saudi Arabia; King Abdul Aziz City for Science
and Technology (KACST); and the National Plan for Science and Technology
(NPST) at King Saud University for providing this work with the
necessary funds. We would also like to thank Mr. James Chu, Mrs. Evelyn
Donguines, Mr. Sahipa Sabirin, Mr. Rajeh Al-Mutairi and the central lab
at KKHU for their much-appreciated support during the laboratory portion
of this work. We would like to give very special thanks to Professor
Abduljaleel Abdulgader, the head of higher studies in the Physiology
Department, King Saud University, Riyadh, Saudi Arabia, for his
much-appreciated support and guidance.
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NR 38
TC 1
Z9 1
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2045-2322
J9 SCI REP-UK
JI Sci Rep
PD SEP 26
PY 2014
VL 4
AR 6478
DI 10.1038/srep06478
PG 5
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AP8XA
UT WOS:000342361500002
PM 25257829
ER
PT J
AU Shen, E
Shulha, H
Weng, ZP
Akbarian, S
AF Shen, Erica
Shulha, Hennady
Weng, Zhiping
Akbarian, Schahram
TI Regulation of histone H3K4 methylation in brain development and disease
SO PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
LA English
DT Review
DE chromatin; nucleosome; epigenetic; autism; schizophrenia; histone
ID LINKED MENTAL-RETARDATION; DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS;
DNA METHYLATION; GENE-EXPRESSION; INTELLECTUAL DISABILITY; LYSINE
METHYLATION; PREFRONTAL CORTEX; KABUKI SYNDROME; SHORT STATURE
AB The growing list of mutations implicated in monogenic disorders of the developing brain includes at least seven genes (ARX, CUL4B, KDM5A, KDM5C, KMT2A, KMT2C, KMT2D) with loss-of-function mutations affecting proper regulation of histone H3 lysine 4 methylation, a chromatin mark which on a genome-wide scale is broadly associated with active gene expression, with its mono-, di- and trimethylated forms differentially enriched at promoter and enhancer and other regulatory sequences. In addition to these rare genetic syndromes, dysregulated H3K4 methylation could also play a role in the pathophysiology of some cases diagnosed with autism or schizophrenia, two conditions which on a genome-wide scale are associated with H3K4 methylation changes at hundreds of loci in a subject-specific manner. Importantly, the reported alterations for some of the diseased brain specimens included a widespread broadening of H3K4 methylation profiles at gene promoters, a process that could be regulated by the UpSET(KMT2E/MLL5)-histone deacetylase complex. Furthermore, predinical studies identified maternal immune activation, parental care and monoaminergic drugs as environmental determinants for brain-specific H3K4 methylation. These novel insights into the epigenetic risk architectures of neurodevelopmental disease will be highly relevant for efforts aimed at improved prevention and treatment of autism and psychosis spectrum disorders.
C1 [Shen, Erica; Akbarian, Schahram] Icahn Sch Med Mt Sinai, Dept Psychiat, Friedman Brain Inst, New York, NY 10029 USA.
[Shulha, Hennady; Weng, Zhiping] Univ Massachusetts, Sch Med, Program Bioinformat & Integrat Biol, Worcester, MA 01604 USA.
RP Akbarian, S (reprint author), Icahn Sch Med Mt Sinai, Dept Psychiat, Friedman Brain Inst, New York, NY 10029 USA.
EM schahram.akbarian@mssm.edu
FU National Institutes of Health; Brain Behavior Research Foundation
FX Work in the authors' laboratory is supported by grants from the National
Institutes of Health and the Brain Behavior Research Foundation.
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NR 105
TC 3
Z9 3
PU ROYAL SOC
PI LONDON
PA 6-9 CARLTON HOUSE TERRACE, LONDON SW1Y 5AG, ENGLAND
SN 0962-8436
EI 1471-2970
J9 PHILOS T R SOC B
JI Philos. Trans. R. Soc. B-Biol. Sci.
PD SEP 26
PY 2014
VL 369
IS 1652
AR 20130514
DI 10.1098/rstb.2013.0514
PG 10
WC Biology
SC Life Sciences & Biomedicine - Other Topics
GA AO1LS
UT WOS:000341074200018
ER
PT J
AU Moreira, DP
Griesi-Oliveira, K
Bossolani-Martins, AL
Lourenco, NCV
Takahashi, VNO
da Rocha, KM
Moreira, ES
Vadasz, E
Meira, JGC
Bertola, D
O' Halloran, E
Magalhaes, TR
Fett-Conte, AC
Passos-Bueno, MR
AF Moreira, Danielle P.
Griesi-Oliveira, Karina
Bossolani-Martins, Ana L.
Lourenco, Naila C. V.
Takahashi, Vanessa N. O.
da Rocha, Katia M.
Moreira, Eloisa S.
Vadasz, Estevao
Castro Meira, Joanna Goes
Bertola, Debora
O' Halloran, Eoghan
Magalhaes, Tiago R.
Fett-Conte, Agnes C.
Passos-Bueno, Maria Rita
TI Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in Autism Spectrum
Disorder Brazilian Individuals with and without Epilepsy
SO PLOS ONE
LA English
DT Article
ID COPY NUMBER VARIANTS; COMPARATIVE-GENOMIC-HYBRIDIZATION;
MENTAL-RETARDATION; DELETION SYNDROME; CYTOGENETIC ABNORMALITIES;
PSYCHIATRIC-DISORDERS; INCOMPLETE PENETRANCE; CLINICAL-SIGNIFICANCE;
HUMAN-POPULATIONS; BREAKPOINTS 1
AB Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-q13, 16p11.2 and 22q13 have been reported as the most frequent. These CNVs exhibit variable clinical expressivity and those at 15q11-q13 and 16p11.2 also show incomplete penetrance. In the present work, through multiplex ligation-dependent probe amplification (MLPA) analysis of 531 ethnically admixed ASD-affected Brazilian individuals, we found that the combined prevalence of the 15q11-q13, 16p11.2 and 22q13 CNVs is 2.1% (11/531). Parental origin could be determined in 8 of the affected individuals, and revealed that 4 of the CNVs represent de novo events. Based on CNV prediction analysis from genome-wide SNP arrays, the size of those CNVs ranged from 206 kb to 2.27 Mb and those at 15q11-q13 were limited to the 15q13.3 region. In addition, this analysis also revealed 6 additional CNVs in 5 out of 11 affected individuals. Finally, we observed that the combined prevalence of CNVs at 15q13.3 and 22q13 in ASD-affected individuals with epilepsy (6.4%) was higher than that in ASD-affected individuals without epilepsy (1.3%; p < 0.014). Therefore, our data show that the prevalence of CNVs at 15q13.3, 16p11.2 and 22q13 in Brazilian ASD-affected individuals is comparable to that estimated for ASD-affected individuals of pure or predominant European ancestry. Also, it suggests that the likelihood of a greater number of positive MLPA results might be found for the 15q13.3 and 22q13 regions by prioritizing ASD-affected individuals with epilepsy.
C1 [Moreira, Danielle P.; Griesi-Oliveira, Karina; Lourenco, Naila C. V.; Takahashi, Vanessa N. O.; da Rocha, Katia M.; Moreira, Eloisa S.; Castro Meira, Joanna Goes; Bertola, Debora; Passos-Bueno, Maria Rita] Univ Sao Paulo, Inst Biociencias, Ctr Pesquisas Genoma Humano & Celulas Tronco, Dept Genet & Biol Evolut, Sao Paulo, Brazil.
[Bossolani-Martins, Ana L.; Fett-Conte, Agnes C.] Fac Med Sao Jose do Rio Preto, Dept Biol Mol, Sao Jose Do Rio Preto, SP, Brazil.
[Vadasz, Estevao] Univ Sao Paulo, Fac Med, Hosp Clin, Inst Psiquiatria, Sao Paulo, Brazil.
[Bertola, Debora] Univ Sao Paulo, Fac Med, Inst Crianca, Sao Paulo, Brazil.
[O' Halloran, Eoghan; Magalhaes, Tiago R.] Natl Univ Ireland Univ Coll Dublin, Sch Med & Med Sci, Acad Ctr Rare Dis, Dublin 4, Ireland.
[Magalhaes, Tiago R.] Our Ladys Childrens Hosp, Natl Childrens Res Ctr, Dublin, Ireland.
RP Passos-Bueno, MR (reprint author), Univ Sao Paulo, Inst Biociencias, Ctr Pesquisas Genoma Humano & Celulas Tronco, Dept Genet & Biol Evolut, Sao Paulo, Brazil.
EM passos@ib.usp.br
FU FAPESP-INCT [2008/57899-7]; FAPESP-CEPID [2013/08028-1]; CNPq
FX Support was provided by FAPESP-INCT - grant number: 2008/57899-7;
FAPESP-CEPID - grant number: 2013/08028-1; CNPq [http://www.fapesp.br/].
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 88
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 25
PY 2014
VL 9
IS 9
AR e107705
DI 10.1371/journal.pone.0107705
PG 8
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AT3UZ
UT WOS:000344862300030
PM 25255310
ER
PT J
AU Potter, MC
Wozniak, KM
Callizot, N
Slusher, BS
AF Potter, Michelle C.
Wozniak, Krystyna M.
Callizot, Noelle
Slusher, Barbara S.
TI Glutamate Carboxypeptidase II Inhibition Behaviorally and
Physiologically Improves Pyridoxine-Induced Neuropathy in Rats
SO PLOS ONE
LA English
DT Article
ID N-ACETYLASPARTYLGLUTAMATE NAAG; PERIPHERAL NERVOUS-SYSTEM; THIOL-BASED
INHIBITORS; ISCHEMIC BRAIN-INJURY; SENSORY NEUROPATHY; NAALADASE
INHIBITION; DIABETIC-NEUROPATHY; GROWTH-FACTOR; PAIN MODEL; NEURONS
AB Pyridoxine is used as a supplement for treating conditions such as vitamin deficiency as well as neurological disorders such as depression, epilepsy and autism. A significant neurologic complication of pyridoxine therapy is peripheral neuropathy thought to be a result of long-term and high dose usage. Although pyridoxine-induced neuropathy is transient and can remit after its withdrawal, the process of complete recovery can be slow. Glutamate carboxypeptidase II (GCP II) inhibition has been shown to improve symptoms of both chemotherapy-and diabetic-induced neuropathy. This study evaluated if GCP II inhibition could behaviorally and physiologically improve pyridoxine-induced neuropathy. In the current study, high doses of pyridoxine (400 mg/kg, twice a day for seven days) were used to induce neuropathy in rats. An orally bioavailable GCP II inhibitor, 2-(3-mercaptopropyl) pentanedioic acid (2-MPPA), was administered daily at a dose of 30 mg/kg starting from the onset of pyridoxine injections. Body weight, motor coordination, heat sensitivity, electromyographical (EMG) parameters and nerve morphological features were monitored. The results show beneficial effects of GCP II inhibition including normalization of hot plate reaction time, foot fault improvements and increased open field distance travelled. H wave frequency, amplitude and latency as well as sensory nerve conduction velocity (SNCV) were also significantly improved by 2-MPPA. Lastly, GCP II inhibition resulted in morphological protection in the spinal cord and sensory fibers in the lumbar region dorsal root ganglia (DRG). In conclusion, inhibition of GCP II may be beneficial against the peripheral sensory neuropathy caused by pyridoxine.
C1 [Potter, Michelle C.; Wozniak, Krystyna M.; Slusher, Barbara S.] Johns Hopkins Univ, Sch Med, Brain Sci Inst, Baltimore, MD 21218 USA.
[Potter, Michelle C.; Slusher, Barbara S.] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA.
[Slusher, Barbara S.] Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA.
[Slusher, Barbara S.] Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA.
[Callizot, Noelle] Neuro Sys, Dept Neuropharmacol, Gardanne, France.
RP Slusher, BS (reprint author), Johns Hopkins Univ, Sch Med, Brain Sci Inst, Baltimore, MD 21218 USA.
EM bslusher@jhmi.edu
FU Eisai Inc.; National Institutes of Health [R01 - GCPII 90055369]; Johns
Hopkins Brain Science Institute
FX This work was supported by Eisai Inc.
(http://us.eisai.com/wps/wcm/connect/Eisai/Home/), National Institutes
of Health (www.NIH.gov) grant (R01 - GCPII 90055369) and the Johns
Hopkins Brain Science Institute (www.brainscienceinstitute.org). All
funding was received by BSS. 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 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 25
PY 2014
VL 9
IS 9
AR e102936
DI 10.1371/journal.pone.0102936
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AT3UZ
UT WOS:000344862300002
PM 25254647
ER
PT J
AU Tracey, MP
Koide, K
AF Tracey, Matthew P.
Koide, Kazunori
TI Development of a Sustainable Enrichment Strategy for Quantification of
Mercury Ions in Complex Samples at the Sub-Parts per Billion Level
SO INDUSTRIAL & ENGINEERING CHEMISTRY RESEARCH
LA English
DT Article
ID NATURAL-WATERS; INORGANIC MERCURY; HEAVY-METALS; METHYLMERCURY;
EXPOSURE; CHILDREN; AUTISM; PRECONCENTRATION; SPECTROMETRY; CONSUMPTION
AB To limit environmental exposure of mercury species, government bodies restrict emissions of various environmental mercury sources to sub-parts per billion (ppb) levels. Current methods for detection of mercury are time-consuming and expensive and suffer from many drawbacks. Optical methods are in principle less intensive but have not yet been implemented for real-world applications because of a lack of sufficient sensitivity and robustness. We previously reported a fluorometric method for quantifying mercury ions based on the oxymercuration of a vinyl ether with a detection limit of 1 ppb, not meeting the requirement by government bodies. To fill the gap between our previous method and the governments' restrictions, we have developed a method to enrich complex samples with mercury ions through the use of a recyclable thiol-based resin and the novel chemistry of mercury release. The combination of our previous fluorometric method and the new enrichment chemistry allowed the detection of 0.1 ppb mercury in a complex synthetic sample.
C1 [Tracey, Matthew P.; Koide, Kazunori] Univ Pittsburgh, Dept Chem, Pittsburgh, PA 15260 USA.
RP Koide, K (reprint author), Univ Pittsburgh, Dept Chem, 219 Parkman Ave, Pittsburgh, PA 15260 USA.
EM koide@pitt.edu
FU Nalco Company; National Science Foundation [CHE-0911092]
FX This research was funded by Nalco Company and the National Science
Foundation (CHE-0911092).
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NR 30
TC 0
Z9 0
PU AMER CHEMICAL SOC
PI WASHINGTON
PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA
SN 0888-5885
J9 IND ENG CHEM RES
JI Ind. Eng. Chem. Res.
PD SEP 24
PY 2014
VL 53
IS 38
BP 14565
EP 14570
DI 10.1021/ie502003f
PG 6
WC Engineering, Chemical
SC Engineering
GA AP8KR
UT WOS:000342328400002
ER
PT J
AU Abdoli, A
Dalimi, A
AF Abdoli, Amir
Dalimi, Abdolhossein
TI Are there any relationships between latent Toxoplasma gondii infection,
testosterone evelatin, and risk of autism spectrum disorder?
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Editorial Material
DE Toxoplasma gondii; prenatal testosterone; autism; extreme male brain
theory; latent infection; second to fourth digit ratio; sex ratio
ID 4TH DIGIT RATIO; PERVASIVE DEVELOPMENTAL DISORDERS; MALE BRAIN THEORY;
FETAL TESTOSTERONE; DOPAMINE FUNCTION; BIPOLAR DISORDER; SUICIDE
ATTEMPTS; SEX-DIFFERENCES; HORMONE-LEVELS; HUMAN-BEHAVIOR
C1 [Abdoli, Amir] Kashan Univ Med Sci, Fac Med Sci, Dept Parasitol, Kashan, Iran.
[Abdoli, Amir; Dalimi, Abdolhossein] Tarbiat Modares Univ, Fac Med Sci, Dept Parasitol, Tehran, Iran.
RP Abdoli, A (reprint author), Kashan Univ Med Sci, Fac Med Sci, Dept Parasitol, Kashan, Iran.
EM a.abdoli@modares.ac.ir
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NR 105
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5153
J9 FRONT BEHAV NEUROSCI
JI Front. Behav. Neurosci.
PD SEP 24
PY 2014
VL 8
AR 339
DI 10.3389/fnbeh.2014.00339
PG 6
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AP4MO
UT WOS:000342051300002
PM 25309376
ER
PT J
AU Prast, JM
Schardl, A
Schwarzer, C
Dechant, G
Saria, A
Zernig, G
AF Prast, Janine M.
Schardl, Aurelia
Schwarzer, Christoph
Dechant, Georg
Saria, Alois
Zernig, Gerald
TI Reacquisition of cocaine conditioned place preference and its inhibition
by previous social interaction preferentially affect D1-medium spiny
neurons in the accumbens corridor
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE cocaine; social interaction; conditioned place preference; accumbens;
septum; island of Calleja; diagonal band; D1 medium spiny neurons
ID DOPAMINE-RECEPTOR GENE; CUE-INDUCED REINSTATEMENT; MESSENGER-RNA
EXPRESSION; VENTRAL TEGMENTAL AREA; RAT NUCLEUS-ACCUMBENS; CHOLINERGIC
INTERNEURONS; PROJECTION PATTERNS; STRIATAL NEURONS; BASAL FOREBRAIN;
CALLEJA COMPLEX
AB We investigated if counterconditioning with dyadic (i.e., one-to-one) social interaction, a strong inhibitor of the subsequent reacquisition of cocaine conditioned place preference (CPP), differentially modulates the activity of the diverse brain regions oriented along a mediolateral corridor reaching from the interhemispheric sulcus to the anterior commissure, i.e., the nucleus of the vertical limb of the diagonal band, the medial septal nucleus, the major island of Calleja, the intermediate part of the lateral septal nucleus, and the medial accumbens shell and core. We also investigated the involvement of the lateral accumbens core and the dorsal caudate putamen. The anterior cingulate 1 (Cg1) region served as a negative control. Contrary to our expectations, we found that all regions of the accumbens corridor showed increased expression of the early growth response protein 1 (EGR1, Zif268) in rats 2 h after reacquisition of CPP for cocaine after a history of cocaine CPP acquisition and extinction. Previous counterconditioning with dyadic social interaction inhibited both the reacquisition of cocaine CPP and the activation of the whole accumbens corridor. EGR1 activation was predominantly found in dynorphin-labeled cells, i.e., presumably D1 receptor-expressing medium spiny neurons (D1-MSNs), with D2-MSNs (immunolabeled with an anti-DRD2 antibody) being less affected. Cholinergic interneurons or GABAergic interneurons positive for parvalbumin, neuropeptide Y or calretinin were not involved in these CPP-related EGR1 changes. Glial cells did not show any EGR1 expression either. The present findings could be of relevance for the therapy of impaired social interaction in substance use disorders, depression, psychosis, and autism spectrum disorders
C1 [Prast, Janine M.; Schardl, Aurelia; Saria, Alois; Zernig, Gerald] Med Univ Innsbruck, Expt Psychiat Unit, A-6020 Innsbruck, Austria.
[Schwarzer, Christoph] Med Univ Innsbruck, Dept Pharmacol, A-6020 Innsbruck, Austria.
[Dechant, Georg] Med Univ Innsbruck, Inst Neurosci, A-6020 Innsbruck, Austria.
[Zernig, Gerald] Leopold Franzens Univ Innsbruck, Dept Psychol, Innsbruck, Austria.
RP Zernig, G (reprint author), Med Univ Innsbruck, Expt Psychiat Unit, Innrain 66a, A-6020 Innsbruck, Austria.
EM gerald.zernig@i-med.ac.at
FU Austrian Science Fund (FWF) [W1206-B18, P26248-B24]; Verein for
Experimentelle Psychiatrie, Psychotherapie, und Pharmakologie (VEPPP)
FX This work was supported by the Austrian Science Fund (FWF) grants
W1206-B18 and P26248-B24 and by the Verein for Experimentelle
Psychiatrie, Psychotherapie, und Pharmakologie (VEPPP). We thank Dr.
Francesco Ferraguti and Dr. Rana El Rawas for discussing our
experimental findings and Andreas Abentung for helping with the confocal
microscopy.
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NR 86
TC 2
Z9 2
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 SEP 24
PY 2014
VL 8
AR 317
DI 10.3389/fnbeh.2014.00317
PG 13
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AP4MG
UT WOS:000342050500001
PM 25309368
ER
PT J
AU Libertus, K
Landa, RJ
AF Libertus, Klaus
Landa, Rebecca J.
TI Scaffolded reaching experiences encourage grasping activity in infants
at high risk for autism
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE infancy; motor development; grasping; sticky mittens; autism spectrum
disorders
ID GROSS MOTOR DEVELOPMENT; SPECTRUM DISORDERS; 3-MONTH-OLD INFANTS;
PRETERM INFANTS; BABY SIBLINGS; CHILDREN; COMMUNICATION; IMPAIRMENT;
PERCEPTION; CHILDHOOD
AB Recent findings suggest impaired motor skill development during infancy in children later diagnosed with autism spectrum disorders (ASD). However, it remains unclear whether infants at high familial risk for ASD would benefit from early interventions targeting the motor domain. The current study investigated this issue by providing 3-month-old infants at high familial risk for ASD with training experiences aimed at facilitating independent reaching. A group of 17 high-risk (HR) infants received 2 weeks of scaffolded reaching experiences using "sticky mittens," and was compared to 72 low-risk (LR) infants experiencing the same or alternative training procedures. Results indicate that HR infants just like LR infants show an increase in grasping activity following "sticky mittens" training. In contrast to LR infants, evidence that motor training encouraged a preference for faces in HR infants was inconclusive.
C1 [Libertus, Klaus] Univ Pittsburgh, Learning Res & Dev Ctr, Pittsburgh, PA 15260 USA.
[Libertus, Klaus; Landa, Rebecca J.] Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD USA.
RP Libertus, K (reprint author), Univ Pittsburgh, Learning Res & Dev Ctr, 3939 OHara St, Pittsburgh, PA 15260 USA.
EM klaus.libertus@gmail.com
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NR 50
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD SEP 23
PY 2014
VL 5
AR 1071
DI 10.3389/fpsyg.2014.01071
PG 8
WC Psychology, Multidisciplinary
SC Psychology
GA AP3KU
UT WOS:000341975700001
PM 25295021
ER
PT J
AU Schore, AN
AF Schore, Allan N.
TI Early interpersonal neurobiological assessment of attachment and
autistic spectrum disorders
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE attachment; autism; interpersonal neurobiology; early intervention;
right brain
ID MEDIAL PREFRONTAL CORTEX; RIGHT BRAIN-DEVELOPMENT; INFANT MENTAL-HEALTH;
HEMISPHERIC LATERALIZATION; DEVELOPMENTAL NEUROSCIENCE; RELATIONAL
TRAUMA; RIGHT AMYGDALA; RIGHT INSULA; CHILDREN; STRESS
AB There is now a strong if not urgent call in both the attachment and autism literatures for updated, research informed, clinically relevant interventions that can more effectively assess the mother infant dyad during early periods of brain plasticity. In this contribution I describe my work in regulation theory, an overarching interpersonal neurobiological model of the development, psychopathogenesis, and treatment of the early forming subjective self system. The theory models the psychoneurobiological mechanisms by which early rapid, spontaneous and thereby implicit emotionally laden attachment communications indelibly impact the experience-dependent maturation of the right brain, the emotional brain. Reciprocal right-lateralized visual-facial, auditory-prosodic, and tactile-gestural non-verbal communications lie at the psychobiological core of the emotional attachment bond between the infant and primary caregiver. These affective communications can in turn be interactively regulated by the primary caregiver, thereby expanding the infants developing right brain regulatory systems. Regulated and dysregulated bodily based communications can be assessed in order to determine the ongoing status of both the infants emotional and social development as well as the quality and efficiency of the infant-mother attachment relationship. I then apply the model to the assessment of early stages of autism. Developmental neurobiological research documents significant alterations of the early developing right brain in autistic infants and toddlers, as well profound attachment failures and intersubjective deficits in autistic infantmother dyads. Throughout I offer implications of the theory for clinical assessment models. This work suggests that recent knowledge of the social and emotional functions of the early developing right brain may not only bridge the attachment and autism worlds, but facilitate more effective attachment and autism models of early intervention.
C1 Univ Calif Los Angeles, David Geffen Sch Med, Northridge, CA 91330 USA.
RP Schore, AN (reprint author), Univ Calif Los Angeles, David Geffen Sch Med, 9817 Sylvia Ave, Northridge, CA 91330 USA.
EM anschore@aol.com
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NR 100
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD SEP 23
PY 2014
VL 5
DI 10.3389/fpsyg.2014.01049
PG 13
WC Psychology, Multidisciplinary
SC Psychology
GA AP3KL
UT WOS:000341974700001
PM 25339916
ER
PT J
AU Carcea, I
Patil, SB
Robison, AJ
Mesias, R
Huntsman, MM
Froemke, RC
Buxbaum, JD
Huntley, GW
Benson, DL
AF Carcea, Ioana
Patil, Shekhar B.
Robison, Alfred J.
Mesias, Roxana
Huntsman, Molly M.
Froemke, Robert C.
Buxbaum, Joseph D.
Huntley, George W.
Benson, Deanna L.
TI Maturation of cortical circuits requires Semaphorin 7A
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
DE E/I balance; critical period; EPSPs; IPSPs; thalamocortical
ID DEVELOPING VISUAL-CORTEX; LONG-TERM POTENTIATION; BARREL CORTEX;
N-CADHERIN; EXPRESSION PATTERNS; NEURAL DEVELOPMENT; MOUSE; PLASTICITY;
NEURONS; INTERNEURONS
AB Abnormal cortical circuits underlie some cognitive and psychiatric disorders, yet the molecular signals that generate normal cortical networks remain poorly understood. Semaphorin 7A (Sema7A) is an atypical member of the semaphorin family that is GPI-linked, expressed principally postnatally, and enriched in sensory cortex. Significantly, SEMA7A is deleted in individuals with 15q24 microdeletion syndrome, characterized by developmental delay, autism, and sensory perceptual deficits. We studied the role that Sema7A plays in establishing functional cortical circuitry in mouse somatosensory barrel cortex. We found that Sema7A is expressed in spiny stellate cells and GABAergic interneurons and that its absence disrupts barrel cytoarchitecture, reduces asymmetrical orientation of spiny stellate cell dendrites, and functionally impairs thalamocortically evoked synaptic responses, with reduced feed-forward GABAergic inhibition. These data identify Sema7A as a regulator of thalamocortical and local circuit development in layer 4 and provide a molecular handle that can be used to explore the coordinated generation of excitatory and inhibitory cortical circuits.
C1 [Carcea, Ioana; Patil, Shekhar B.; Robison, Alfred J.; Mesias, Roxana; Huntley, George W.; Benson, Deanna L.] Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY 10029 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA.
[Carcea, Ioana; Patil, Shekhar B.; Robison, Alfred J.; Mesias, Roxana; Buxbaum, Joseph D.; Huntley, George W.; Benson, Deanna L.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY 10029 USA.
[Carcea, Ioana; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr, New York, NY 10029 USA.
[Carcea, Ioana; Buxbaum, Joseph D.; Huntley, George W.; Benson, Deanna L.] Icahn Sch Med Mt Sinai, Grad Sch Biomed Sci, New York, NY 10029 USA.
[Huntsman, Molly M.] Univ Colorado, Dept Pharmaceut Sci, Aurora, CO 80045 USA.
[Huntsman, Molly M.] Univ Colorado, Dept Pediat, Aurora, CO 80045 USA.
[Carcea, Ioana; Froemke, Robert C.] NYU, Dept Otolaryngol, Helen & Martin Kimmel Ctr Biol & Med, Sch Med,Skirball Inst Biomol Med,Mol Neurobiol Pr, New York, NY 10016 USA.
[Carcea, Ioana; Froemke, Robert C.] NYU, Dept Physiol, Helen & Martin Kimmel Ctr Biol & Med, Sch Med,Skirball Inst Biomol Med,Mol Neurobiol Pr, New York, NY 10016 USA.
[Carcea, Ioana; Froemke, Robert C.] NYU, Dept Neurosci, Helen & Martin Kimmel Ctr Biol & Med, Sch Med,Skirball Inst Biomol Med,Mol Neurobiol Pr, New York, NY 10016 USA.
[Robison, Alfred J.] Michigan State Univ, Dept Physiol, E Lansing, MI 48824 USA.
RP Huntley, GW (reprint author), Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY 10029 USA.
EM george.huntley@mssm.edu; deanna.benson@mssm.edu
FU National Institutes of Health (National Institute of Mental Health);
National Institutes of Health (National Institute of Neurological
Disorders and Stroke); Simons Foundation
FX We thank Amrita Ramesh, Sania Khalid, and Steven Mortillo for their
outstanding technical contributions to this project and James D'Amour
for assistance with this project. This study was funded by the National
Institutes of Health (National Institute of Mental Health and National
Institute of Neurological Disorders and Stroke) and the Simons
Foundation. I. C. was a Beatrice and Samuel A. Seaver Foundation
Postdoctoral Fellow.
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NR 47
TC 0
Z9 0
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 SEP 23
PY 2014
VL 111
IS 38
BP 13978
EP 13983
DI 10.1073/pnas.1408680111
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AP3PC
UT WOS:000341988200069
PM 25201975
ER
PT J
AU Picard, M
Zhang, JW
Hancock, S
Derbeneva, O
Golhar, R
Golik, P
O'Hearn, S
Levy, S
Potluri, P
Lvova, M
Davila, A
Lin, CS
Perin, JC
Rappaport, EF
Hakonarson, H
Trounce, IA
Procaccio, V
Wallace, DC
AF Picard, Martin
Zhang, Jiangwen
Hancock, Saege
Derbeneva, Olga
Golhar, Ryan
Golik, Pawel
O'Hearn, Sean
Levy, Shawn
Potluri, Prasanth
Lvova, Maria
Davila, Antonio
Lin, Chun Shi
Perin, Juan Carlos
Rappaport, Eric F.
Hakonarson, Hakon
Trounce, Ian A.
Procaccio, Vincent
Wallace, Douglas C.
TI Progressive increase in mtDNA 3243A > G heteroplasmy causes abrupt
transcriptional reprogramming
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
DE RNA-Seq; mitochondrial disease; mtDNA variant; epigenetic; electron
microscopy
ID MITOCHONDRIAL-DNA MUTATIONS; GENE-EXPRESSION; RETT-SYNDROME;
HUMAN-CELLS; DISEASE; MELAS; METHYLATION; MODEL; ABNORMALITIES;
PLURIPOTENT
AB Variation in the intracellular percentage of normal and mutant mitochondrial DNAs (mtDNA) (heteroplasmy) can be associated with phenotypic heterogeneity in mtDNA diseases. Individuals that inherit the common disease-causing mtDNA tRNA(Leu(UUR)) 3243A>G mutation and harbor similar to 10-30% 3243G mutant mtDNAs manifest diabetes and occasionally autism; individuals with similar to 50-90% mutant mtDNAs manifest encephalomyopathies; and individuals with similar to 90-100% mutant mtDNAs face perinatal lethality. To determine the basis of these abrupt phenotypic changes, we generated somatic cell cybrids harboring increasing levels of the 3243G mutant and analyzed the associated cellular phenotypes and nuclear DNA (nDNA) and mtDNA transcriptional profiles by RNA sequencing. Small increases in mutant mtDNAs caused relatively modest defects in oxidative capacity but resulted in sharp transitions in cellular phenotype and gene expression. Cybrids harboring 20-30% 3243G mtDNAs had reduced mtDNA mRNA levels, rounded mitochondria, and small cell size. Cybrids with 50-90% 3243G mtDNAs manifest induction of glycolytic genes, mitochondrial elongation, increased mtDNA mRNA levels, and alterations in expression of signal transduction, epigenomic regulatory, and neurodegenerative disease-associated genes. Finally, cybrids with 100% 3243G experienced reduced mtDNA transcripts, rounded mitochondria, and concomitant changes in nuclear gene expression. Thus, striking phase changes occurred in nDNA and mtDNA gene expression in response to the modest changes of the mtDNA 3243G mutant levels. Hence, a major factor in the phenotypic variation in heteroplasmic mtDNA mutations is the limited number of states that the nucleus can acquire in response to progressive changes in mitochondrial retrograde signaling.
C1 [Picard, Martin; Derbeneva, Olga; Potluri, Prasanth; Lvova, Maria; Davila, Antonio; Lin, Chun Shi; Wallace, Douglas C.] Univ Penn, Childrens Hosp Philadelphia, Ctr Mitochondrial & Epigen Med, Philadelphia, PA 19104 USA.
[Picard, Martin; Derbeneva, Olga; Potluri, Prasanth; Lvova, Maria; Davila, Antonio; Lin, Chun Shi; Wallace, Douglas C.] Univ Penn, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA.
[Zhang, Jiangwen] Univ Hong Kong, Sch Biol Sci, Hong Kong, Hong Kong, Peoples R China.
[Hancock, Saege; Hakonarson, Hakon] Trovagene, San Diego, CA 92130 USA.
[Golhar, Ryan] Childrens Hosp Philadelphia, Ctr Appl Genom, Div Genet, Dept Pediat, Philadelphia, PA 19104 USA.
[Perin, Juan Carlos; Rappaport, Eric F.] Childrens Hosp Philadelphia, Nucle Acid Prot Res Core Facil, Philadelphia, PA 19104 USA.
[Golik, Pawel] Warsaw Univ, Inst Genet & Biotechnol, PL-00927 Warsaw, Poland.
[O'Hearn, Sean] Sinai Hosp, Morton Mower Cent Res Lab, Baltimore, MD 21215 USA.
[Levy, Shawn] HudsonAlpha Inst Biotechnol, Genom Sevices Lab, Huntsville, AL 35806 USA.
[Trounce, Ian A.] Royal Victorian Eye & Ear Hosp, Ctr Eye Res Australia, East Melbourne, Vic 3002, Australia.
[Procaccio, Vincent] CHU Angers, Dept Biochem & Genet, Natl Ctr Neurodegenerat & Mitochondrial Dis, F-49933 Angers, France.
RP Wallace, DC (reprint author), Univ Penn, Childrens Hosp Philadelphia, Ctr Mitochondrial & Epigen Med, Philadelphia, PA 19104 USA.
EM wallaced1@email.chop.edu
FU Simon Foundation [205844]; National Institutes of Health [NS21328,
NS070298, AG24373, DK73691]; Canadian Institute of Health Research
Institute of Neuroscience as part of the Canadian Epigenetics,
Environment, and Health Research Consortium
FX The authors thank Katelyn Sweeney and the University of Pennsylvania EM
Core Facilities for technical assistance on parts of this project. This
work was supported by Simon Foundation Grant 205844 and by National
Institutes of Health Grants NS21328, NS070298, AG24373, and DK73691 (to
D. C. W.). M. P. is supported by a postdoctoral fellowship from the
Canadian Institute of Health Research Institute of Neuroscience as part
of the Canadian Epigenetics, Environment, and Health Research
Consortium.
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NR 51
TC 4
Z9 5
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 SEP 23
PY 2014
VL 111
IS 38
BP E4033
EP E4042
DI 10.1073/pnas.1414028111
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AP3PC
UT WOS:000341988200012
PM 25192935
ER
PT J
AU Parr, LA
AF Parr, Lisa A.
TI Intranasal oxytocin enhances socially-reinforced learning in rhesus
monkeys
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE oxytocin; social reward; learning; monkey; autism; facial expressions;
emotion
ID MACACA-MULATTA; AUTISM; MACAQUES; HUMANS; BRAIN; FACE; DISORDERS;
BEHAVIORS; VALENCE; MEMORY
AB There are currently no drugs approved for the treatment of social deficits associated with autism spectrum disorders (ASD). One hypothesis for these deficits is that individuals with ASD lack the motivation to attend to social cues because those cues are not implicitly rewarding. Therefore, any drug that could enhance the rewarding quality of social stimuli could have a profound impact on the treatment of ASD, and other social disorders. Oxytocin (OT) is a neuropeptide that has been effective in enhancing social cognition and social reward in humans. The present study examined the ability of OT to selectively enhance learning after social compared to nonsocial reward in rhesus monkeys, an important species for modeling the neurobiology of social behavior in humans. Monkeys were required to learn an implicit visual matching task after receiving either intranasal (IN) OT or Placebo (saline). Correct trials were rewarded with the presentation of positive and negative social (play faces/threat faces) or nonsocial (banana/cage locks) stimuli, plus food. Incorrect trials were not rewarded. Results demonstrated a strong effect of socially-reinforced learning, monkeys performed significantly better when reinforced with social vs. nonsocial stimuli. Additionally, socially-reinforced learning was significantly better and occurred faster after IN-OT compared to placebo treatment. Performance in the IN-OT, but not Placebo, condition was also significantly better when the reinforcement stimuli were emotionally positive compared to negative facial expressions. These data support the hypothesis that OT may function to enhance prosocial behavior in primates by increasing the rewarding quality of emotionally positive, social compared to emotionally negative or nonsocial images. These data also support the use of the rhesus monkey as a model for exploring the neurobiological basis of social behavior and its impairment.
C1 [Parr, Lisa A.] Emory Univ, Ctr Translat Social Neurosci, Dept Psychiat & Behav Sci, Atlanta, GA 30329 USA.
[Parr, Lisa A.] Emory Univ, Yerkes Natl Primate Res Ctr, Atlanta, GA 30329 USA.
RP Parr, LA (reprint author), Emory Univ, Ctr Translat Social Neurosci, Dept Psychiat & Behav Sci, 954 Gatewood Rd, Atlanta, GA 30329 USA.
EM lparr@emory.edu
FU National Center for Research Resources [P51RR000165]; Office of Research
Infrastructure Programs/OD [P51OD011132]; [R01MH068791]; [K02MH096084]
FX This project was funded by R01MH068791 and K02MH096084 to Lisa A. Parr.
Additional support was provided by the National Center for Research
Resources P51RR000165 to the Yerkes National Primate Research Center,
currently the Office of Research Infrastructure Programs/OD P51OD011132.
Thanks to Erin Siebert and Lauren Murphy for animal assistance, and Dr.
Hasse Walum for comments on a previous version of this manuscript.
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NR 39
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5153
J9 FRONT BEHAV NEUROSCI
JI Front. Behav. Neurosci.
PD SEP 23
PY 2014
VL 8
AR 278
DI 10.3389/fnbeh.2014.00278
PG 8
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AP4FB
UT WOS:000342031500001
ER
PT J
AU Timmermans, B
Schilbach, L
AF Timmermans, Bert
Schilbach, Leonhard
TI Investigating alterations of social interaction in psychiatric disorders
with dual interactive eye tracking and virtual faces
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Editorial Material
DE eye tracking; social interaction; anthropomorphic avatars; autism;
schizophrenia
ID 2ND-PERSON NEUROSCIENCE; AUTISM; SCHIZOPHRENIA; GAZE; ENVIRONMENTS;
ABNORMALITIES; PERCEPTION; ATTENTION; DEFICITS; TASKS
C1 [Timmermans, Bert] Univ Aberdeen, Sch Psychol, Social Int & Consciousness Lab SINC, Aberdeen, Scotland.
[Schilbach, Leonhard] Univ Hosp Cologne, Psychiat & Psychotherapy Clin, Neuroimaging Grp, Cologne, Germany.
RP Timmermans, B (reprint author), Univ Aberdeen, Sch Psychol, Social Int & Consciousness Lab SINC, Aberdeen, Scotland.
EM bert.timmermans@abdn.ac.uk
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 35
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD SEP 23
PY 2014
VL 8
AR 758
DI 10.3389/fnhum.2014.00758
PG 4
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AP3HY
UT WOS:000341967400001
PM 25295001
ER
PT J
AU McNeil, MM
Gee, J
Weintraub, ES
Belongia, EA
Lee, GM
Glanz, JM
Nordin, JD
Klein, NP
Baxter, R
Naleway, AL
Jackson, LA
Omer, SB
Jacobsen, SJ
DeStefano, F
AF McNeil, Michael M.
Gee, Julianne
Weintraub, Eric S.
Belongia, Edward A.
Lee, Grace M.
Glanz, Jason M.
Nordin, James D.
Klein, Nicola P.
Baxter, Roger
Naleway, Allison L.
Jackson, Lisa A.
Omer, Saad B.
Jacobsen, Steven J.
DeStefano, Frank
TI The Vaccine Safety Datalink: successes and challenges monitoring vaccine
safety
SO VACCINE
LA English
DT Review
DE Surveillance; Vaccine safety; Immunization
ID INACTIVATED INFLUENZA VACCINE; GUILLAIN-BARRE-SYNDROME;
MEASLES-MUMPS-RUBELLA; REAL-TIME SURVEILLANCE; PROBABILITY RATIO TEST;
ADVERSE EVENTS; UNITED-STATES; CHILDHOOD VACCINATIONS; IMMUNIZATION
PRACTICES; PREVENTABLE DISEASES
AB The Vaccine Safety Datalink (VSD) is a collaborative project between the Centers for Disease Control and Prevention (CDC) and 9 health care organizations. Established in 1990, VSD is a vital resource informing policy makers and the public about the safety of vaccines used in the United States. Large linked databases are used to identify and evaluate adverse events in over 9 million individuals annually. VSD generates rapid, important safety assessments for both routine vaccinations and emergency vaccination campaigns. VSD monitors safety of seasonal influenza vaccines in near-real time, and provided essential information on the safety of influenza A (H1N1) 2009 monovalent vaccine during the recent pandemic. VSD investigators have published important studies demonstrating that childhood vaccines are not associated with autism or other developmental disabilities. VSD prioritizes evaluation of new vaccines; searches for possible unusual health events after vaccination; monitors vaccine safety in pregnant women; and has pioneered development of biostatistical research methods. Published by Elsevier Ltd.
C1 [McNeil, Michael M.; Gee, Julianne; Weintraub, Eric S.; DeStefano, Frank] Ctr Dis Control & Prevent, Immunizat Safety Off, Div Healthcare Qual Promot, Natl Ctr Emerging & Zoonot Infect Dis, Atlanta, GA USA.
[Belongia, Edward A.] Marshfield Clin Res Fdn, Marshfield, WI USA.
[Lee, Grace M.] Harvard Univ, Sch Med, Dept Populat Med, Boston, MA USA.
[Lee, Grace M.] Harvard Pilgrim Hlth Care Inst, Boston, MA USA.
[Glanz, Jason M.] Kaiser Permanente, Inst Hlth Res, Denver, CO USA.
[Nordin, James D.] HealthPartners Inst Educ & Res, Minneapolis, MN USA.
[Klein, Nicola P.; Baxter, Roger] Kaiser Permanente No Calif, Vaccine Study Ctr, Oakland, CA USA.
[Naleway, Allison L.] Kaiser Permanente Northwest, Ctr Hlth Res, Portland, OR USA.
[Jackson, Lisa A.] Grp Hlth Cooperat Puget Sound, Seattle, WA USA.
[Omer, Saad B.] Kaiser Permanente Ctr Hlth Res, Atlanta, GA USA.
[Jacobsen, Steven J.] Kaiser Permanente So Calif, Dept Res & Evaluat, Pasadena, CA 91101 USA.
RP McNeil, MM (reprint author), CDC, 1600 Clifton Rd NE,MS D-26, Atlanta, GA 30333 USA.
EM mmm2@cdc.gov
FU CDC
FX The findings and conclusions in this report are those of the authors and
do not necessarily represent the official policy or position of the
Centers for Disease Control and Prevention. Use of trade names and
commercial sources is for identification only and does not imply
endorsement by the Centers for Disease Control and Prevention, or the
U.S. Department of Health and Human Services. This study was supported
by CDC and no external funding was secured.
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NR 69
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 0264-410X
EI 1873-2518
J9 VACCINE
JI Vaccine
PD SEP 22
PY 2014
VL 32
IS 42
BP 5390
EP 5398
DI 10.1016/j.vaccine.2014.07.073
PG 9
WC Immunology; Medicine, Research & Experimental
SC Immunology; Research & Experimental Medicine
GA AR1LH
UT WOS:000343346200005
PM 25108215
ER
PT J
AU Eapen, V
Woolfenden, S
Williams, K
Jalaludin, B
Dissanayake, C
Axelsson, EL
Murphy, E
Eastwood, J
Descallar, J
Beasley, D
Crncec, R
Short, K
Silove, N
Einfeld, S
Prior, M
AF Eapen, Valsamma
Woolfenden, Susan
Williams, Katrina
Jalaludin, Bin
Dissanayake, Cheryl
Axelsson, Emma L.
Murphy, Elisabeth
Eastwood, John
Descallar, Joseph
Beasley, Deborah
Crncec, Rudi
Short, Katherine
Silove, Natalie
Einfeld, Stewart
Prior, Margot
TI "Are you available for the next 18 months?"-methods and aims of a
longitudinal birth cohort study investigating a universal developmental
surveillance program: the 'Watch Me Grow' study
SO BMC PEDIATRICS
LA English
DT Article
DE Child Development Disorders; Surveillance; Screening; Children;
Preschool
ID HEALTH-CARE; CHILDREN; DISORDERS; CHALLENGES; TODDLERS; INFANTS; AUTISM
AB Background: Universal developmental surveillance programs aimed at early identification and targeted early intervention significantly improve short-and long-term outcomes in children at risk of developmental disorders. However, a significant challenge remains in providing sufficiently rigorous research and robust evidence to inform policy and service delivery. This paper describes the methods of the 'Watch Me Grow' study that aims to maximise accurate early detection of children with developmental disorders through a partnership formed between policy makers, service providers and researchers.
Methods/Design: A mixed methods study design was developed consisting of: (1) a qualitative study of parents and health service providers to investigate barriers and enablers of developmental surveillance; (2) recruitment of a birth cohort and their longitudinal follow-up to 18 months of age to: a) assess risk factors for not accessing existing developmental surveillance programs and b) estimate the prevalence of children identified with developmental risk; (3) comparison of surveillance outcomes with a reference standard at 18 months of age to assess the diagnostic test accuracy of existing and alternative developmental surveillance tools; and (4) comparison of developmental surveillance models to inform policy recommendations. Data linkage will be used to determine the uptake and representativeness of the study participant group versus non-participants.
Discussion: The Watch Me Grow study is expected to provide a collaborative opportunity to enhance universal developmental surveillance for early accurate identification of developmental risk. This will also provide quality evidence about identification of developmental risk and access to services to be embedded in existing practice with linkages to policy development.
C1 [Eapen, Valsamma; Axelsson, Emma L.; Crncec, Rudi] Acad Unit Child Psychiat South Western Sydney Loc, Sydney, NSW, Australia.
[Eapen, Valsamma; Axelsson, Emma L.; Crncec, Rudi; Silove, Natalie] Univ New S Wales, Sch Psychiat, Sydney, NSW, Australia.
[Eapen, Valsamma; Axelsson, Emma L.; Crncec, Rudi; Silove, Natalie] Univ New S Wales, Ingham Inst, Sydney, NSW, Australia.
[Eapen, Valsamma; Jalaludin, Bin; Axelsson, Emma L.; Eastwood, John; Descallar, Joseph; Short, Katherine] Ingham Inst Appl Med Res, Sydney, NSW, Australia.
[Woolfenden, Susan; Silove, Natalie] Sydney Childrens Hosp Network, Sydney, NSW, Australia.
[Woolfenden, Susan; Short, Katherine] Univ New S Wales, Sch Womens & Childrens Hlth, Sydney, NSW, Australia.
[Williams, Katrina] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia.
[Williams, Katrina] Royal Childrens Hosp, Melbourne, Vic, Australia.
[Williams, Katrina] Murdoch Childrens Res Inst, Melbourne, Vic, Australia.
[Jalaludin, Bin] Sydney & South Western Sydney Local Hlth Dist, Ctr Res Evidence Management & Surveillance, Sydney, NSW, Australia.
[Jalaludin, Bin] Univ New S Wales, Sch Publ Hlth & Community Med, Sydney, NSW, Australia.
[Dissanayake, Cheryl] La Trobe Univ, Olga Tennison Autism Res Ctr, Melbourne, Vic, Australia.
[Murphy, Elisabeth; Beasley, Deborah] NSW Kids & Families NSW Hlth, Sydney, NSW, Australia.
[Eastwood, John] South Western Sydney Local Hlth Dist, Sydney, NSW, Australia.
[Descallar, Joseph] Univ New S Wales, South Western Sydney Local Hlth Dist, South Western Sydney Clin Sch, Sydney, NSW, Australia.
[Short, Katherine] Liverpool Hosp, Speech Pathol Unit, Liverpool, Merseyside, Australia.
[Silove, Natalie] Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia.
[Einfeld, Stewart] Univ Sydney, Brain & Mind Res Inst, Ctr Disabil Res & Policy, Sydney, NSW 2006, Australia.
[Prior, Margot] Univ Melbourne, Sch Psychol Sci, Melbourne, Vic, Australia.
RP Eapen, V (reprint author), Acad Unit Child Psychiat South Western Sydney Loc, Sydney, NSW, Australia.
EM v.eapen@unsw.edu.au
RI Williams, Katrina/B-6828-2015
OI Williams, Katrina/0000-0002-1686-4458
FU National Health and Medical Research Council of Australia [APP 1013690];
NSW Kids and Families (NSW Health)
FX This study (APP 1013690) was funded by the National Health and Medical
Research Council of Australia, through a partnership grant with the NSW
Kids and Families (NSW Health) and in-kind support from University of
New South Wales, La Trobe University, South Western Sydney Local Health
District and Sydney Children's Hospital Network. We thank the Child and
Family Health Nurses in the Liverpool/Fairfield/Bankstown areas, the
staff of the postnatal wards at Liverpool and Bankstown hospitals, and
the staff at the Clinical Information Department at Liverpool hospital
as well as Child and Family Health Nurse managers Trish Clarke, Victoria
Blight and Wendy Geddes. We also thank the Watch Me Grow Study Group:
Overs B., Harvey S., Hendry A., Walter A., Matthey S., Shine T., Ha MT.,
Wong O., Garg P., Deering A., Cleary JA., Nguyen, V., Ha M., Butler C.,
Yakob, B.
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NR 41
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-2431
J9 BMC PEDIATR
JI BMC Pediatr.
PD SEP 22
PY 2014
VL 14
AR 234
DI 10.1186/1471-2431-14-234
PG 9
WC Pediatrics
SC Pediatrics
GA AQ3PZ
UT WOS:000342707300001
PM 25241772
ER
PT J
AU Martin, LJ
Cork, LC
AF Martin, Lee J.
Cork, Linda C.
TI The non-human primate striatum undergoes marked prolonged remodeling
during postnatal development
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Article
DE striatal mosaic; striosome; rhesus monkey; infant; autism; epigenetics;
leucine-enkephalin; nucleus accumbens
ID INSITU HYBRIDIZATION HISTOCHEMISTRY; CENTRAL-NERVOUS-SYSTEM; HUMAN
CAUDATE-NUCLEUS; CORE-SHELL DICHOTOMY; EARLY-LIFE STRESS; RHESUS-MONKEY;
RAT STRIATUM; DOPAMINE ISLANDS; COMPARTMENTAL ORGANIZATION; STRIOSOMAL
COMPARTMENT
AB We examined the postnatal ontogeny of the striatum in rhesus monkeys (Macaca mulatta) to identify temporal and spatial patterns of histological and chemical maturation. Our goal was to determine whether this forebrain structure is developmentally static or dynamic in postnatal life. Brains from monkeys at 1 day, 1, 4, 6, 9, and 12 months of age (N = 12) and adult monkeys (N = 4) were analyzed. Nissl staining was used to assess striatal volume, cytoarchitecture, and apoptosis. Immunohistochemistry was used to localize and measure substance P (SP), leucine-enkephalin (LENK), tyrosine hydroxylase (TH), and calbindin D28 (CAL) immunoreactivities. Mature brain to body weight ratio was achieved at 4 months of age, and striatal volume increased from similar to 1.2 to similar to 1.4 cm(3) during the first postnatal year. Nissl staining identified, prominently in the caudate nucleus, developmentally persistent discrete cell islands with neuronal densities greater than the surrounding striatal parenchyma (matrix). Losses in neuronal density were observed in island and matrix regions during maturation, and differential developmental programmed cell death was observed in islands and matrix regions. Immunohistochemistry revealed striking changes occurring postnatally in striatal chemical neuroanatomy. At birth, the immature dopaminergic nigrostriatal innervation was characterized by islands enriched in TH-immunoreactive puncta (putative terminals) in the neuropil; TH-enriched islands aligned completely with areas enriched in SP immunoreactivity but low in LENK immunoreactivity. These areas enriched in SP immunoreactivity but low in LENK immunoreactivity were identified as striosome and matrix areas, respectively, because CAL immunoreactivity clearly delineated these territories. SP, LENK, and CAL immunoreactivities appeared as positive neuronal cell bodies, processes, and puncta. The matrix compartment at birth contained relatively low TH-immunoreactive processes and few SP-positive neurons but was densely populated with LENK-immunoreactive neurons. The nucleus accumbens part of the ventral striatum also showed prominent differences in SP, LENK, and CAL immunoreactivities in shell and core territories. During 12 months of postnatal maturation salient changes occurred in neurotransmitter marker localization: TH-positive afferents densely innervated the matrix to exceed levels of immunoreactivity in the striosomes; SP immunoreactivity levels increased in the matrix; and LENK-immunoreactivity levels decreased in the matrix and increased in the striosomes. At 12 months of age, striatal chemoarchitecture was similar qualitatively to adult patterns, but quantitatively different in LENK and SP in caudate, putamen, and nucleus accumbens. This study shows for the first time that the rhesus monkey striatum requires more than 12 months after birth to develop an adult-like pattern of chemical neuroanatomy and that principal neurons within striosomes and matrix have different developmental programs for neuropeptide expression. We conclude that postnatal maturation of the striatal mosaic in primates is not static but, rather, is a protracted and dynamic process that requires many synchronous and compartment-selective changes in afferent innervation and in the expression of genes that regulate neuronal phenotypes.
C1 [Martin, Lee J.] Johns Hopkins Univ, Sch Med, Dept Pathol, Div Neuropathol, Baltimore, MD 21205 USA.
[Martin, Lee J.] Johns Hopkins Univ, Sch Med, Pathobiol Grad Program, Baltimore, MD USA.
[Martin, Lee J.] Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA.
[Cork, Linda C.] Stanford Univ, Sch Med, Dept Comparat Med, Palo Alto, CA 94304 USA.
RP Martin, LJ (reprint author), Johns Hopkins Univ, Sch Med, Dept Pathol, Div Neuropathol, 720 Rutland Ave, Baltimore, MD 21205 USA.
EM martinl@jhmi.edu
FU Johns Hopkins University institutional research grant; U.S. Public
Health Service, National Institutes of Health, National Institute of
Neurological Disorder and Stroke
FX The authors thank Dawn Spicer, Antoinette Price, Frank Barksdale, and
Catherine Lesuisse for technical assistance. This work was supported by
a Johns Hopkins University institutional research grant and grants from
the U.S. Public Health Service, National Institutes of Health, National
Institute of Neurological Disorder and Stroke.
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NR 102
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5102
J9 FRONT CELL NEUROSCI
JI Front. Cell. Neurosci.
PD SEP 22
PY 2014
VL 8
DI 10.3389/fncel.2014.00294
PG 15
WC Neurosciences
SC Neurosciences & Neurology
GA AP3BC
UT WOS:000341948900001
PM 25294985
ER
PT J
AU DeRamus, TP
Black, BS
Pennick, MR
Kana, RK
AF DeRamus, Thomas P.
Black, Briley S.
Pennick, Mark R.
Kana, Rajesh K.
TI Enhanced parietal cortex activation during location detection in
children with autism
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE fMRI; Autism; Dorsal; Ventral; Visual system; Functional connectivity;
Object recognition; Location detection
ID VISUAL OBJECT RECOGNITION; SPECTRUM DISORDERS; FUNCTIONAL MRI;
FRONTAL-CORTEX; TOP-DOWN; ATTENTION; PERCEPTION; SEARCH; LOBULE;
CONNECTIVITY
AB Background: Visuospatial processing has been found to be mediated primarily by two cortical routes, one of which is unique to recognizing objects (occipital-temporal, ventral or "what" pathway) and the other to detecting the location of objects in space (parietal-occipital, dorsal or "where" pathway). Considering previous findings of relative advantage in people with autism in visuospatial processing, this functional MRI study examined the connectivity in the dorsal and ventral pathways in high-functioning children with autism.
Methods: Seventeen high-functioning children and adolescents with autism spectrum disorders (ASD) and 19 age-and-IQ-matched typically developing (TD) participants took part in this study. A simple visual task involving object recognition and location detection was used. In the MRI scanner, participants were shown grey scale pictures of objects (e.g., toys, household items, etc.) and were asked to identify the objects presented or to specify the location of objects relative to a cross at the center of the screen.
Results: Children with ASD, relative to TD children, displayed significantly greater activation in the left inferior parietal lobule (especially the angular gyrus) while detecting the location of objects. However, there were no group differences in brain activity during object recognition. There were also differences in functional connectivity, with the ASD participants showing decreased connectivity of the inferior temporal area with parietal and occipital areas during location detection.
Conclusions: The results of this study underscore previous findings of an increased reliance on visuospatial processing (increased parietal activation) for information processing in ASD individuals. In addition, such processing may be more local, focal, and detailed in ASD as evidenced from the weaker functional connectivity.
C1 [DeRamus, Thomas P.] Univ Alabama Birmingham, Dept Psychol, Behav Neurosci Grad Program, Birmingham, AL 35294 USA.
[Black, Briley S.] Univ Alabama Birmingham, Undergrad Neurosci Program, Birmingham, AL 35294 USA.
[Pennick, Mark R.] Univ Alabama Birmingham, Dept Psychol, Lifespan & Dev Psychol Grad Program, Birmingham, AL 35294 USA.
[Kana, Rajesh K.] Univ Alabama Birmingham, Dept Psychol, Birmingham, AL 35294 USA.
RP Kana, RK (reprint author), Univ Alabama Birmingham, Dept Psychol, Birmingham, AL 35294 USA.
EM rkana@uab.edu
FU UAB department of Psychology faculty funds
FX We would like to thank all participants in this study for their time and
willingness to participate in this research. This study was supported by
the UAB department of Psychology faculty funds. The authors would like
to thank Hrishikesh Deshpande and Jose Omar Maximo for their technical
support and assistance.
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NR 58
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD SEP 19
PY 2014
VL 6
AR 37
DI 10.1186/1866-1955-6-37
PG 10
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AW1DR
UT WOS:000346031300001
PM 25302083
ER
PT J
AU Liu, XX
Takumi, T
AF Liu, Xiaoxi
Takumi, Toru
TI Genomic and genetic aspects of autism spectrum disorder
SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
LA English
DT Article
DE Autism; Autism spectrum disorder; ASD; Genetics; CNV
ID DE-NOVO MUTATIONS; COPY-NUMBER VARIATION; CHINESE HAN POPULATION;
SYNAPTIC PLASTICITY; JAPANESE POPULATION; SYNDROME REGION; CHROMOSOME
7Q; ASSOCIATION; COMMON; RISK
AB Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component. The past decade has witnessed tremendous progress in the genetic studies of ASD. In this article, we review the accumulating literatures on the monogenic forms of ASD and chromosomal abnormalities associated with ASD, the genome-wide linkage and association studies, the copy number variation (CNV) and the next generation sequencing (NGS) studies. With more than hundreds of mutations being implicated, the convergent biological pathways are emerging and the genetic landscape of ASD becomes clearer. The genetic studies provide a solid basis for future translational study for better diagnoses, intervention and treatment of ASD. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Liu, Xiaoxi; Takumi, Toru] RIKEN Brain Sci Inst, Wako, Saitama 3510198, Japan.
[Takumi, Toru] Core Res Evolut Sci & Technol, Japan Sci & Technol Agent JST, Saitama, Japan.
RP Takumi, T (reprint author), RIKEN Brain Sci Inst, 2-1 Hirosawa, Wako, Saitama 3510198, Japan.
EM toru.takumi@riken.jp
FU Japan Society of Promotion of Science; Ministry of Education, Culture,
Sports, Science, and Technology KAKENHI; Strategic International
Coorperative Program; CREST, Japan Science and Technology Agency
FX We thank Drs. Takeshi Otowa, Mamoru Tochigi, and Tsukasa Sasaki for
critical reading and helpful comments on the manuscript. Our work was
supported in part by Japan Society of Promotion of Science and Ministry
of Education, Culture, Sports, Science, and Technology KAKENHI,
Strategic International Coorperative Program and CREST, Japan Science
and Technology Agency.
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NR 82
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 0006-291X
EI 1090-2104
J9 BIOCHEM BIOPH RES CO
JI Biochem. Biophys. Res. Commun.
PD SEP 19
PY 2014
VL 452
IS 2
SI SI
BP 244
EP 253
DI 10.1016/j.bbrc.2014.08.108
PG 10
WC Biochemistry & Molecular Biology; Biophysics
SC Biochemistry & Molecular Biology; Biophysics
GA AQ5PJ
UT WOS:000342860800006
PM 25173933
ER
PT J
AU Sabers, A
Bertelsen, FCB
Scheel-Kruger, J
Nyengaard, JR
Moller, A
AF Sabers, Anne
Bertelsen, Freja C. B.
Scheel-Kruger, Jorgen
Nyengaard, Jens R.
Moller, Arne
TI Long-term valproic acid exposure increases the number of neocortical
neurons in the developing rat brain. A possible new animal model of
autism
SO NEUROSCIENCE LETTERS
LA English
DT Article
DE Valproic acid; Valproate; Autism; Neurodevelopment; Teratogenesis;
Pregnancy
ID AGE 2 YEARS; ANTIEPILEPTIC DRUGS; PRENATAL EXPOSURE; HISTONE
DEACETYLASE; PREFRONTAL CORTEX; MOOD STABILIZER; TERATOGENICITY;
OVERGROWTH; DISORDERS; SIZE
AB The aim of this study was to test the hypothesis that long-term fetal valproic acid (VPA) exposure at doses relevant to the human clinic interferes with normal brain development. Pregnant rats were given intraperitoneal injections of VPA (20 mg/kg or 100 mg/kg) continuously during the last 9-12 days of pregnancy and during the lactation period until sacrifice on the 23rd postnatal day. Total number of neocortical neurons was estimated using the optical fractionator and frontal cortical thicknesses were sampled in VPA exposed pups compared with an unexposed control group. We found that pups exposed to 20 mg/kg and 100 mg/kg doses of VPA had statistically significant higher total number of neurons in neocortex by 15.8% and 12.3%, respectively (p < 0.05) compared to controls amounting to 15.5 x 10(6) neocortical neurons (p < 0.01). There was no statistical difference between the two VPA groups. Pups exposed to100 mg/kg, but not to 20 mg/kg VPA displayed a significant (p < 0.05) broader (7.5%) of frontal cortical thickness compared to controls. Our results support the hypothesis that fetal exposure of VPA may interfere with normal brain development by disturbing neocortical organization, resulting in overgrowth of frontal lobes and increased neuronal cell numbers. The results indirectly suggest that prenatal VPA may contribute as a causative factor in the brain developmental disturbances equivalent to those seen in human autism spectrum disorders. We therefore suggest that this version of the VPA model may provide a translational model of autism. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Sabers, Anne] Rigshosp, Univ State Hosp, Dept Neurol, Epilepsy Clin, DK-2100 Copenhagen, Denmark.
[Bertelsen, Freja C. B.; Moller, Arne] Aarhus Univ Hosp, PET Ctr, DK-8000 Aarhus, Denmark.
[Bertelsen, Freja C. B.; Scheel-Kruger, Jorgen; Moller, Arne] Aarhus Univ, Ctr Functionally Integrat Neurosci, Aarhus, Denmark.
[Nyengaard, Jens R.] Aarhus Univ, Ctr Stochast Geometry & Adv Bioimaging, Stereol & Elect Microscopy Lab, Aarhus, Denmark.
RP Sabers, A (reprint author), Rigshosp, Univ State Hosp, Dept Neurol, Epilepsy Clin, Blegdamsvej 9, DK-2100 Copenhagen, Denmark.
EM anne.sabers@regionh.dk; Frejacbb@gmail.com; Kruger@CFIN.dk;
Nyengaard@ki.au.dk; Arne@CFIN.dk
FU Danish Epilepsy Society (Lennart Grans Memorial Foundation); Centre for
Stochastic Geometry and Advanced Bioimaging - Villum Foundation in
Denmark; Eisai Denmark; UCB Nordic; GlaxoSmithKline
FX This study was sponsored by the Danish Epilepsy Society (Lennart Grans
Memorial Foundation) and Centre for Stochastic Geometry and Advanced
Bioimaging founded by Villum Foundation in Denmark. Dr. Anne Sabers has
served on the scientific advisory board and received consultancy or
lecture fees of Eisai Denmark, UCB Nordic and GlaxoSmithKline and has
received travel support from Eisai Denmark and UCB Nordic.
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NR 49
TC 2
Z9 2
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0304-3940
EI 1872-7972
J9 NEUROSCI LETT
JI Neurosci. Lett.
PD SEP 19
PY 2014
VL 580
BP 12
EP 16
DI 10.1016/j.neulet.2014.07.036
PG 5
WC Neurosciences
SC Neurosciences & Neurology
GA AQ0NC
UT WOS:000342479000003
PM 25079904
ER
PT J
AU Kandemir, H
Erdal, ME
Selek, S
Ay, OI
Karababa, IF
Kandemir, SB
Ay, ME
Yilmaz, SG
Bayazit, H
Tasdelen, B
AF Kandemir, Hasan
Erdal, Mehmet Emin
Selek, Salih
Ay, Ozlem Izci
Karababa, Ibrahim Fatih
Kandemir, Sultan Basmaci
Ay, Mustafa Ertan
Yilmaz, Senay Gorucu
Bayazit, Huseyin
Tasdelen, Bahar
TI Evaluation of several micro RNA (miRNA) levels in children and
adolescents with attention deficit hyperactivity disorder
SO NEUROSCIENCE LETTERS
LA English
DT Article
DE ADHD; micro RNA; miRNA; Psychiatry; Child psychiatry
ID LYMPHOBLASTOID CELL-LINES; ALZHEIMERS-DISEASE BRAIN;
DEFICIT/HYPERACTIVITY DISORDER; PREFRONTAL CORTEX; AUTISM SPECTRUM;
EXPRESSION; SCHIZOPHRENIA; ADHD; DYSREGULATION; INDIVIDUALS
AB Attention-deficit/hyperactivity disorder (ADHD) is one of the most prevalent childhood disorders, although disorders etiology and pathogenesis remains unknown, several theories about ADHD development have been proposed and many researchers believe that it is caused by both genetic and environmental factors. In this study we evaluated miR18a-5p, miR22-3p, miR24-3p, miR106b-5p, miR107, miR125b-5p and miR155a-5p levels in child and adolescent ADHD patients. The research sample consisted a group of 52 ADHD patients, and 52 healthy volunteer controls. There was no significant difference in age and sex between the two groups (p > 0.05). miRNA 18a-5p, 22-3p, 24-3p, 106b-5p and 107 levels were statistically significantly decreased in ADHD patients(p < 0.05). miRNA 155a-5p levels were increased in patients group (p < 0.05). The positive predictive value (PPV) and negative predictive value of miR107 was estimated for the cutoff point of 0.4480. PPV was 70% and NPV was 86.5% for the taken cut off point. There could be a close relationship between levels of circulating miRNAs and ADHD. If we could understand how the signaling pathways arranged by miRNAs, impact on CNS development, function and pathology this can improve our knowledge about ADHD etiology and treatment. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Kandemir, Hasan] Harran Univ, Fac Med, Dept Child & Adolescent Psychiat, Sanliurfa, Turkey.
[Erdal, Mehmet Emin; Ay, Ozlem Izci; Ay, Mustafa Ertan] Mersin Univ, Fac Med, Dept Med Biol, Mersin, Turkey.
[Selek, Salih] Medeniyet Univ, Fac Med, Dept Psychiat, Istanbul, Turkey.
[Karababa, Ibrahim Fatih; Bayazit, Huseyin] Harran Univ, Fac Med, Dept Psychiat, Sanliurfa, Turkey.
[Kandemir, Sultan Basmaci] Balikli Gol State Hosp, Dept Psychiat, Sanliurfa, Turkey.
[Yilmaz, Senay Gorucu] Mersin Univ, Fac Med, Dept Med Biol & Genet, Mersin, Turkey.
[Tasdelen, Bahar] Mersin Univ, Fac Med, Dept Biostat, Mersin, Turkey.
RP Selek, S (reprint author), Medeniyet Univ, Fac Med, Dept Psychiat, Istanbul, Turkey.
EM drselek@yahoo.com
RI Erdal, Mehmet Emin/F-9241-2015
OI Erdal, Mehmet Emin/0000-0002-6191-2930
FU Harran University Coordination of Scientific Research Projects [12010]
FX Our study has been supported by Harran University Coordination of
Scientific Research Projects (Funding Number: 12010).
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NR 44
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0304-3940
EI 1872-7972
J9 NEUROSCI LETT
JI Neurosci. Lett.
PD SEP 19
PY 2014
VL 580
BP 158
EP 162
DI 10.1016/j.neulet.2014.07.060
PG 5
WC Neurosciences
SC Neurosciences & Neurology
GA AQ0NC
UT WOS:000342479000031
PM 25123444
ER
PT J
AU Kronenberg, LM
Slager-Visscher, K
Goossens, PJJ
van den Brink, W
van Achterberg, T
AF Kronenberg, Linda M.
Slager-Visscher, Karin
Goossens, Peter J. J.
van den Brink, Wim
van Achterberg, Theo
TI Everyday life consequences of substance use in adult patients with a
substance use disorder (SUD) and co-occurring attention
deficit/hyperactivity disorder (ADHD) or autism spectrum disorder (ASD):
a patient's perspective
SO BMC PSYCHIATRY
LA English
DT Article
DE Substance use disorders; Attention deficit hyperactivity disorder;
Autism spectrum disorder; Everyday life consequences; Adults
ID DUAL DIAGNOSIS; EXECUTIVE FUNCTION; PROSPECTIVE MEMORY; ABUSE; ALCOHOL;
COMORBIDITY; IMPAIRMENTS; ADDICTION; CLIENTS; BRAIN
AB Background: Although the prevalence of substance use disorder (SUD) with co-occurring attention deficit/hyperactivity disorder (ADHD) or autism spectrum disorder (ASD) is relatively high in adult patients, there is hardly any knowledge about these dual diagnoses. A recent study reported met-and unmet needs for several life domains regarding these patient groups. To improve treatment, it is necessary to identify the everyday life consequences of SUD and co-occurring ADHD or ASD in adult patients.
Methods: Qualitative study using in-depth interviews. 11 SUD + ADHD and 12 SUD + ASD patients participated in the study. The interview transcripts were coded and analysed according to the seven steps for descriptive phenomenology by Colaizzi.
Results: Both patients with ADHD and patients with ASD can get caught in a jumble of thoughts and emotions which can often lead to agitation and impulsivity in the case of ADHD or passivity and melancholia in the case of ASD with co-occurring SUD in both cases. Initially substance use ameliorates the symptoms and related problems, but both patient groups can later experience even greater problems: difficulties with the structuring of daily life due to a lack of planning (SUD + ADHD) or due to a lack of initiative (SUD + ASD). Both groups indicate that structure helps them function better. They also recognize that substance use disorganizes their lives and that an absence of structure contributes to substance use in what becomes a vicious circle which needs to be broken for effective treatment and care.
Conclusions: This study provides insight into the daily life consequences of SUD with a co-occurring ADHD or ASD. Substance use is reported to solve some ADHD- or ASD-related problems in the short run but have negative consequences in the long run (i.e., contribute to already impaired cognitive functioning). Insight is provided into what clinicians can do to break this vicious circle and thus help ADHD patients to refrain from action and ASD patients to take action.
C1 [Kronenberg, Linda M.] Dept Residency Training MANP Mental Hlth, Deventer, Netherlands.
[Kronenberg, Linda M.] Dimence, Dual Diag Dept, Deventer, Netherlands.
[Slager-Visscher, Karin] Dimence, Assert Community Treatment, Deventer, Netherlands.
[Goossens, Peter J. J.] Saxion Univ Appl Sci, Expertise Ctr Hlth Social Work & Technol, Deventer, Netherlands.
[Goossens, Peter J. J.] Dimence, SCBS, Deventer, Netherlands.
[Goossens, Peter J. J.; van Achterberg, Theo] Radboud Univ Nijmegen, Med Ctr, Sci Inst Qual Healthcare, NL-6525 ED Nijmegen, Netherlands.
[van den Brink, Wim] Univ Amsterdam, Acad Med Ctr, Amsterdam Inst Addict Res, NL-1105 AZ Amsterdam, Netherlands.
[van Achterberg, Theo] Katholieke Univ Leuven, Ctr Hlth Serv & Nursing Res, Leuven, Belgium.
[van Achterberg, Theo] Uppsala Univ, Dept Publ Hlth & Caring Sci, Uppsala, Sweden.
RP Kronenberg, LM (reprint author), Dept Residency Training MANP Mental Hlth, POB 50037400 GC, Deventer, Netherlands.
EM l.kronenberg@dimence.nl
FU Dimence
FX Dimence funded a PhD-study on behalf of LK, and for that they funded
this study because it forms a part of the PhD-study.
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NR 30
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-244X
J9 BMC PSYCHIATRY
JI BMC Psychiatry
PD SEP 19
PY 2014
VL 14
AR 264
DI 10.1186/s12888-014-0264-1
PG 9
WC Psychiatry
SC Psychiatry
GA AP4FK
UT WOS:000342032400001
PM 25234344
ER
PT J
AU Zabelina, DL
Condon, D
Beeman, M
AF Zabelina, Darya L.
Condon, David
Beeman, Mark
TI Do dimensional psychopathology measures relate to creative achievement
or divergent thinking?
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE creativity; psychopathology; individual differences; divergent thinking;
creative achievement
ID COGNITIVE CONTROL; BIPOLAR DISORDER; MENTAL-ILLNESS; SCHIZOTYPY;
PERSONALITY; INTELLIGENCE; SCALE; MATHEMATICIANS; SCHIZOPHRENIA;
ORGANIZATION
AB Previous research provides disparate accounts of the putative association between creativity and psychopathology, including schizotypy, psychoticism, hypomania, bipolar disorder, ADHD, and autism spectrum disorders. To examine these association, healthy, non-clinical participants completed several psychopathology-spectrum measures, often postulated to associate with creativity: the Schizotypal Personality Questionnaire, the Psychoticism scale, the Personality Inventory for DSM-5, the Hypomanic Personality Scale, the Attention Deficit/Hyperactivity Disorder scale, the Beck Depression Inventory, and the Autism-Spectrum Quotient. The goal of Study 1 was to evaluate the factor structure of these dimensional psychopathology measures and, in particular, to evaluate the case for a strong general factor(s). None of the factor solutions between 1 and 10 factors provided a strong fit with the data based on the most commonly used metrics. The goal of Study 2 was to determine whether these psychopathology scales predict, independently, two measures of creativity: 1. a measure of participants' real-world creative achievements, and 2. divergent thinking, a laboratory measure of creative cognition. After controlling for academic achievement, psychoticism and hypomania reliably predicted real-world creative achievement and divergent thinking scored with the consensual assessment technique. None of the psychopathology-spectrum scales reliably predicted divergent thinking scored with the manual scoring method. Implications for the potential links between several putative creative processes and risk factors for psychopathology are discussed.
C1 [Zabelina, Darya L.; Condon, David; Beeman, Mark] Northwestern Univ, Dept Psychol, Evanston, IL 60208 USA.
RP Zabelina, DL (reprint author), Northwestern Univ, Dept Psychol, 2029 Sheridan Rd, Evanston, IL 60208 USA.
EM darya.zabelina@u.northwestern.edu
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NR 71
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD SEP 18
PY 2014
VL 5
AR 1029
DI 10.3389/fpsyg.2014.01029
PG 11
WC Psychology, Multidisciplinary
SC Psychology
GA AP2YQ
UT WOS:000341942500001
PM 25278919
ER
PT J
AU Fujisawa, TX
Tanaka, S
Saito, DN
Kosaka, H
Tomoda, A
AF Fujisawa, Takashi X.
Tanaka, Shiho
Saito, Daisuke N.
Kosaka, Hirotaka
Tomoda, Akemi
TI Visual attention for social information and salivary oxytocin levels in
preschool children with autism spectrum disorders: an eye-tracking study
SO FRONTIERS IN NEUROSCIENCE
LA English
DT Article
DE oxytocin (OT); autism spectrum disorder (ASD); visual attention;
preschool children; eye-tracking
ID JOINT ATTENTION; NEURAL CIRCUITRY; HUMANS; BEHAVIOR; BRAIN; VASOPRESSIN;
PATTERNS; MIND; MOTIVATION; COGNITION
AB This study was designed to ascertain the relationship between visual attention for social information and oxytocin (OT) levels in Japanese preschool children with autism spectrum disorder (ASD). We hypothesized that poor visual attention for social information and low OT levels are crucially important risk factors associated with ASD. We measured the pattern of gaze fixation for social information using an eye-tracking system, and salivary OT levels by the Enzyme-Linked Immunosorbent Assay (ELISA). There was a positive association between salivary OT levels and fixation duration for an indicated object area in a finger-pointing movie in typically developing (TD) children. However, no association was found between these variables in children with ASD. Moreover, age decreased an individual's attention to people moving and pointed-at objects, but increased attention for mouth-in-the-face recognition, geometric patterns, and biological motions. Thus, OT levels likely vary during visual attention for social information between TD children and those with ASD. Further, aging in preschool children has considerable effect on visual attention for social information.
C1 [Fujisawa, Takashi X.; Tanaka, Shiho; Saito, Daisuke N.; Kosaka, Hirotaka; Tomoda, Akemi] Univ Fukui, Res Ctr Child Mental Dev, Fukui 910, Japan.
[Fujisawa, Takashi X.; Saito, Daisuke N.; Kosaka, Hirotaka; Tomoda, Akemi] Univ Fukui, Hamamatsu Univ Sch Med, Chiba Univ,Dept Child Dev, Kanazawa Univ,Osaka Univ,United Grad Sch Child De, Fukui 910, Japan.
[Saito, Daisuke N.] Univ Fukui, Biomed Imaging Res Ctr, Fukui 910, Japan.
[Kosaka, Hirotaka] Univ Fukui, Fac Med Sci, Dept Neuropsychiat, Fukui 910, Japan.
RP Tomoda, A (reprint author), Univ Fukui, Res Ctr Child Mental Dev, 23-3 Matsuoka Shimoaizuki, Eiheiji, Fukui 9101193, Japan.
EM atomoda@u-fukui.ac.jp
FU Ministry of Education, Culture, Sports, Science and Technology (MEXT) of
Japan (KAKENHI) [24300149, 25560386, 25750405]; MEXT of Japan
FX This work was supported by a Grant-in-Aid for Scientific Research (B),
Young Scientists (B) and Challenging Exploratory Research from the
Ministry of Education, Culture, Sports, Science and Technology (MEXT) of
Japan (KAKENHI: grant numbers 24300149 and 25560386 to Akemi Tomoda,
grant number 25750405 to Takashi X. Fujisawa). Part of this report is
the result of "Integrated Research on Neuropsychiatric Disorders"
conducted under the Strategic Research Program for Brain Sciences by
MEXT of Japan. This work also was partially supported by a research
grant from the "Center of Community (COC)" program from the MEXT of
Japan to Takashi X. Fujisawa, Daisuke N. Saito, and Akemi Tomoda.
Funding organizations had no role in the design or conduct of the study,
such as the collection, management, analysis, or interpretation of the
data, or the preparation, review, or approval of the manuscript.
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Z9 0
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PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-453X
J9 FRONT NEUROSCI-SWITZ
JI Front. Neurosci.
PD SEP 17
PY 2014
VL 8
AR 295
DI 10.3389/fnins.2014.00295
PG 8
WC Neurosciences
SC Neurosciences & Neurology
GA AW8QF
UT WOS:000346526200001
PM 25278829
ER
PT J
AU Sugino, K
Hempel, CM
Okaty, BW
Arnson, HA
Kato, S
Dani, VS
Nelson, SB
AF Sugino, Ken
Hempel, Chris M.
Okaty, Benjamin W.
Arnson, Hannah A.
Kato, Saori
Dani, Vardhan S.
Nelson, Sacha B.
TI Cell-Type-Specific Repression by Methyl-CpG-Binding Protein 2 Is Biased
toward Long Genes
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE cell adhesion; MeCP2; microarray; Rett syndrome
ID RETT-SYNDROME; MOUSE MODEL; TRANSCRIPTIONAL REPRESSOR; MECP2 DEFICIENCY;
NEURONS; AUTISM; BRAIN; MICE; MATURATION; SYNAPSE
AB Mutations in methyl-CpG-binding protein 2 (MeCP2) cause Rett syndrome and related autism spectrum disorders (Amir et al., 1999). MeCP2 is believed to be required for proper regulation of brain gene expression, but prior microarray studies in Mecp2 knock-out mice using brain tissue homogenates have revealed only subtle changes in gene expression (Tudor et al., 2002; Nuber et al., 2005; Jordan et al., 2007; Chahrour et al., 2008). Here, by profiling discrete subtypes of neurons we uncovered more dramatic effects of MeCP2 on gene expression, overcoming the "dilution problem" associated with assaying homogenates of complex tissues. The results reveal misregulation of genes involved in neuronal connectivity and communication. Importantly, genes upregulated following loss of MeCP2 are biased toward longer genes but this is not true for downregulated genes, suggesting MeCP2 may selectively repress long genes. Because genes involved in neuronal connectivity and communication, such as cell adhesion and cell-cell signaling genes, are enriched among longer genes, their misregulation following loss of MeCP2 suggests a possible etiology for altered circuit function in Rett syndrome.
C1 [Sugino, Ken; Hempel, Chris M.; Okaty, Benjamin W.; Arnson, Hannah A.; Kato, Saori; Dani, Vardhan S.; Nelson, Sacha B.] Brandeis Univ, Dept Biol, Waltham, MA 02454 USA.
[Sugino, Ken; Hempel, Chris M.; Okaty, Benjamin W.; Arnson, Hannah A.; Kato, Saori; Dani, Vardhan S.; Nelson, Sacha B.] Brandeis Univ, Ctr Behav Genom, Waltham, MA 02454 USA.
RP Sugino, K (reprint author), Janelia Farm Res Campus,19700 Helix Dr, Ashburn, VA 20147 USA.
EM suginok@janelia.hhmi.org; nelson@brandeis.edu
FU McKnight Foundation; Autism Speaks; IRSF; NINDS
FX This work was supported by grants from the McKnight Foundation, Autism
Speaks, IRSF, and NINDS. Wethank P. Shapiro, R. Pavlyuk, and Z. Meng for
technical assistance, R. Jaenisch and Q. Chang for kindly providing
Mecp2 KO mice, N. Matsushita for kindly providing TH mice, and J. Huang
for kindly providing G42 mice.
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