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Direct linkEscher, Jill; Yan, Wei; Rissman, Emilie F.; Wang, Hsiao-Lin V.; Hernandez, Arturo; Corces, Victor G. – Journal of Autism and Developmental Disorders, 2022
Investigations into the etiology of autism spectrum disorders have been largely confined to two realms: variations in DNA sequence and somatic developmental exposures. Here we suggest a third route--disruption of the germline epigenome induced by exogenous toxicants during a parent's gamete development. Similar to cases of germline mutation, these…
Descriptors: Etiology, Autism Spectrum Disorders, Genetics, Prenatal Influences
Zhao, Shixi; Chen, Wei-Ju; Dhar, Shweta U.; Eble, Tanya N.; Kwok, Oi-Man; Chen, Lei-Shih – Journal of Autism and Developmental Disorders, 2019
This study examined the experiences of Autism Spectrum Disorder (ASD) genetic testing among parents of children with ASD. A nationwide sample of 552 parents of children with ASD completed an online survey. Nearly one-quarter (22.5%) of the parents reported that their affected children had undergone ASD genetic testing. The testing utilization was…
Descriptors: Genetics, Parent Attitudes, Children, Autism
Valdes, Francisca; Keary, Christopher J.; Mullett, Jennifer E.; Palumbo, Michelle L.; Waxler, Jessica L.; Pober, Barbara R.; McDougle, Christopher J. – Journal of Autism and Developmental Disorders, 2018
Descriptions of individuals with Williams syndrome (WS) and co-morbid major depressive disorder (MDD) with psychotic features have not appeared in the literature. In addition to reviewing previous reports of psychotic symptoms in persons with WS, this paper introduces clinical histories and therapeutic management strategies for three previously…
Descriptors: Depression (Psychology), Psychosis, Adults, Comorbidity
Harmsen, Irene E. – Journal of Autism and Developmental Disorders, 2019
Empathy is an essential component of human social life. It requires the ability to understand another's mental state and respond with an appropriate emotion or action. Individuals with autism spectrum disorder (ASD) have been described to exhibit atypical empathic responses which limit communication and social interactions. This review highlights…
Descriptors: Empathy, Autism, Pervasive Developmental Disorders, Age Differences
Anderson, George M. – Journal of Autism and Developmental Disorders, 2015
Network perspectives, in their emphasis on components and their interactions, might afford the best approach to the complexities of the ASD realm. Categorical approaches are unlikely to be fruitful as one should not expect to find a single or even predominant underlying cause of autism behavior across individuals. It is possible that the complex,…
Descriptors: Autism, Pervasive Developmental Disorders, Genetics, Mental Retardation
Anderson, George M. – Journal of Autism and Developmental Disorders, 2012
Genetic and epigenetic differences exist within monozygote twin-pairs and might be especially important in the expression of autism. Assuming phenotypic differences between monozygotic twins are due to environmental influences may lead to mistaken conclusions regarding the relative genetic and environmental contribution to autism risk.
Descriptors: Autism, Genetics, Environmental Influences, Twins
Meiri, Gal; Dinstein, Ilan; Michaelowski, Analya; Flusser, Hagit; Ilan, Michal; Faroy, Michal; Bar-Sinai, Asif; Manelis, Liora; Stolowicz, Dana; Yosef, Lili Lea; Davidovitch, Nadav; Golan, Hava; Arbelle, Shosh; Menashe, Idan – Journal of Autism and Developmental Disorders, 2017
Elucidating the heterogeneous etiologies of autism will require investment in comprehensive longitudinal data acquisition from large community based cohorts. With this in mind, we have established a hospital-university-based (HUB) database of autism which incorporates prospective and retrospective data from a large and ethnically diverse…
Descriptors: Autism, Databases, Etiology, Hospitals
Rutter, Michael L. – Journal of Autism and Developmental Disorders, 2011
Scientific progress is discussed in relation to clinical issues; genetic issues; environmental issues; and the state of play on psychological treatments. It is concluded that substantial gains in knowledge have been achieved during the last 3 years, and there have been some unexpected findings, but major puzzles remain. We should be hopeful of…
Descriptors: Genetics, Autism, Genetic Disorders, Environmental Influences
Rutter, Michael – Journal of Autism and Developmental Disorders, 2013
New research findings provide major challenges regarding our understanding of the concept of autism. These are critically discussed in relation to research relevant to classification, genetics, environmental risk factors, gene-environment interplay, animal models, biomarkers, clinical features, neuropathology, pharmacotherapy, behavioral…
Descriptors: Autism, Concept Formation, Concept Teaching, Evidence
Bohm, Henry V.; Stewart, Melbourne G. – Journal of Autism and Developmental Disorders, 2009
In the development of genetic theories of Autistic Spectrum Disorder (ASD) various characteristics of monozygotic (MZ) and dizygotic (DZ) twins are often considered. This paper sets forth a possible refinement in the interpretation of the MZ twin concordance percentages for ASD underlying such genetic theories, and, drawing the consequences from…
Descriptors: Twins, Autism, Genetics, Genetic Disorders
Vaccarino, Flora M.; Grigorenko, Elena L.; Smith, Karen Muller; Stevens, Hanna E. – Journal of Autism and Developmental Disorders, 2009
Increased brain size is common in children with autism spectrum disorders. Here we propose that an increased number of cortical excitatory neurons may underlie the increased brain volume, minicolumn pathology and excessive network excitability, leading to sensory hyper-reactivity and seizures, which are often found in autism. We suggest that…
Descriptors: Autism, Brain, Genetics
Schendel, Diana E.; Bresnahan, Michaeline; Carter, Kim W.; Francis, Richard W.; Gissler, Mika; Grønborg, Therese K.; Gross, Raz; Gunnes, Nina; Hornig, Mady; Hultman, Christina M.; Langridge, Amanda; Lauritsen, Marlene B.; Leonard, Helen; Parner, Erik T.; Reichenberg, Abraham; Sandin, Sven; Sourander, Andre; Stoltenberg, Camilla; Suominen, Auli; Surén, Pål; Susser, Ezra – Journal of Autism and Developmental Disorders, 2013
The International Collaboration for Autism Registry Epidemiology (iCARE) is the first multinational research consortium (Australia, Denmark, Finland, Israel, Norway, Sweden, USA) to promote research in autism geographical and temporal heterogeneity, phenotype, family and life course patterns, and etiology. iCARE devised solutions to challenges in…
Descriptors: Autism, Epidemiology, International Cooperation, Consortia
Belmonte, Matthew K.; Mazziotta, John C.; Minshew, Nancy J.; Evans, Alan C.; Courchesne, Eric; Dager, Stephen R.; Bookheimer, Susan Y.; Aylward, Elizabeth H.; Amaral, David G.; Cantor, Rita M.; Chugani, Diane C.; Dale, Anders M.; Davatzikos, Christos; Gerig, Guido; Herbert, Martha R.; Lainhart, Janet E.; Murphy, Declan G.; Piven, Joseph; Reiss, Allan L.; Schultz, Robert T.; Zeffiro, Thomas A.; Levi-Pearl, Susan; Lajonchere, Clara; Colamarino, Sophia A. – Journal of Autism and Developmental Disorders, 2008
Data sharing in autism neuroimaging presents scientific, technical, and social obstacles. We outline the desiderata for a data-sharing scheme that combines imaging with other measures of phenotype and with genetics, defines requirements for comparability of derived data and recommendations for raw data, outlines a core protocol including…
Descriptors: Autism, Genetics, Measurement Techniques, Data Analysis
Kwasnicka-Crawford, Dorota A.; Roberts, Wendy; Scherer, Stephen W. – Journal of Autism and Developmental Disorders, 2007
Cytogenetic abnormalities in the Prader-Willi/Angelman syndrome (PWS/AS) critical region have been described in individuals with autism. Maternal duplications and linkage disequilibrium in families with autism suggest the existence of a susceptibility locus at 15q11-q13. Here, we describe a 6-year-old girl diagnosed with autism, developmental…
Descriptors: Autism, Genetics, Females, Young Children
Peer reviewedZwaigenbaum, L.; Szatmari, P.; Mahoney, W.; Bryson, S.; Bartolucci, G.; MacLean, J. – Journal of Autism and Developmental Disorders, 2000
This case report describes the presence of autism and Childhood Disintegrative Disorder (CDD) cosegregating within a sibship of half-brothers with the same mother. The report suggests that the rarity of the two conditions suggests a shared transmissible mechanism. (Contains references.) (Author/DB)
Descriptors: Autism, Developmental Disabilities, Etiology, Genetics
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