Publication Date
| In 2026 | 0 |
| Since 2025 | 0 |
| Since 2022 (last 5 years) | 1 |
| Since 2017 (last 10 years) | 2 |
| Since 2007 (last 20 years) | 10 |
Descriptor
| Autism | 13 |
| Epilepsy | 13 |
| Genetics | 13 |
| Mental Retardation | 6 |
| Pervasive Developmental… | 6 |
| Genetic Disorders | 4 |
| Neurological Impairments | 4 |
| Brain | 3 |
| Mental Disorders | 3 |
| Pathology | 3 |
| Schizophrenia | 3 |
| More ▼ | |
Source
| Journal of Autism and… | 4 |
| Brain | 2 |
| Behavior Analyst | 1 |
| Child Development | 1 |
| Child Psychiatry and Human… | 1 |
| Journal of the American… | 1 |
| Mental Retardation and… | 1 |
Author
| Afawi, Zaid | 1 |
| Andrews, P. Ian | 1 |
| Barcia, Giulia | 1 |
| Barnes, Gregory | 1 |
| Bayly, Marta A. | 1 |
| Beaudet, Arthur L. | 1 |
| Berkovic, Samuel F. | 1 |
| Bolton, Patrick F. | 1 |
| Burrows, Linda | 1 |
| Chatron, Nicolas | 1 |
| Chen, Chao | 1 |
| More ▼ | |
Publication Type
| Journal Articles | 11 |
| Reports - Research | 8 |
| Reports - Evaluative | 2 |
| Information Analyses | 1 |
| Reference Materials -… | 1 |
| Reports - Descriptive | 1 |
Education Level
Audience
| Parents | 1 |
Laws, Policies, & Programs
Assessments and Surveys
What Works Clearinghouse Rating
Peer reviewed
Direct linkLi, Kuokuo; Fang, Zhenghuan; Zhao, Guihu; Li, Bin; Chen, Chao; Xia, Lu; Wang, Lin; Luo, Tengfei; Wang, Xiaomeng; Wang, Zheng; Zhang, Yi; Jiang, Yi; Pan, Qian; Hu, Zhengmao; Guo, Hui; Tang, Beisha; Liu, Chunyu; Sun, Zhongsheng; Xia, Kun; Li, Jinchen – Journal of Autism and Developmental Disorders, 2022
The clinical similarity among different neuropsychiatric disorders (NPDs) suggested a shared genetic basis. We catalogued 23,109 coding de novo mutations (DNMs) from 6511 patients with autism spectrum disorder (ASD), 4,293 undiagnosed developmental disorder (UDD), 933 epileptic encephalopathy (EE), 1022 intellectual disability (ID), 1094…
Descriptors: Mental Disorders, Genetics, Patients, Autism
Demily, Caroline; Lesca, Gaétan; Poisson, Alice; Till, Marianne; Barcia, Giulia; Chatron, Nicolas; Sanlaville, Damien; Munnich, Arnold – Journal of Autism and Developmental Disorders, 2018
The "22q11.2 duplication" is a variably penetrant copy number variant (CNV) associated with a broad spectrum of clinical manifestations including autism spectrum disorders (ASD), and epilepsy. Here, we report on pathogenic "HUWE1" and "KIF1A" mutations in two severely affected ASD/ID participants carrying a 22q11.2…
Descriptors: Autism, Pervasive Developmental Disorders, Genetics, Epilepsy
Lumish, Heidi S.; Wynn, Julia; Devinsky, Orrin; Chung, Wendy K. – Journal of Autism and Developmental Disorders, 2015
Whole exome sequencing (WES) has been utilized with increasing frequency to identify mutations underlying rare diseases. Autism spectrum disorders (ASD) and intellectual disability (ID) are genetically heterogeneous, and novel genes for these disorders are rapidly being identified, making these disorders ideal candidates for WES. Here we report a…
Descriptors: Autism, Pervasive Developmental Disorders, Intellectual Disability, Epilepsy
Pescosolido, Matthew F.; Gamsiz, Ece D.; Nagpal, Shailender; Morrow, Eric M. – Journal of the American Academy of Child & Adolescent Psychiatry, 2013
Objective: The purpose of the present study was to discover the extent to which distinct "DSM" disorders share large, highly recurrent copy number variants (CNVs) as susceptibility factors. We also sought to identify gene mechanisms common to groups of diagnoses and/or specific to a given diagnosis based on associations with CNVs. Method:…
Descriptors: Diseases, Genetics, Autism, Schizophrenia
Kang, Jing-Qiong; Barnes, Gregory – Journal of Autism and Developmental Disorders, 2013
Autism and epilepsy are common childhood neurological disorders with a great heterogeneity of clinical phenotypes as well as risk factors. There is a high co-morbidity of autism and epilepsy. The neuropathology of autism and epilepsy has similar histology implicating the processes of neurogenesis, neural migration, programmed cell death, and…
Descriptors: Pathology, Autism, Symptoms (Individual Disorders), Epilepsy
Beaudet, Arthur L. – Child Development, 2013
Chromosomal microarray analysis (CMA) has emerged as a powerful new tool to identify genomic abnormalities associated with a wide range of developmental disabilities including congenital malformations, cognitive impairment, and behavioral abnormalities. CMA includes array comparative genomic hybridization (CGH) and single nucleotide polymorphism…
Descriptors: Genetics, Genetic Disorders, Developmental Disabilities, Identification
Schaal, David W. – Behavior Analyst, 2012
This article presents an introduction to "The Behavior-Analytic Origins of Constraint-Induced Movement Therapy: An Example of Behavioral Neurorehabilitation," by Edward Taub and his colleagues (Taub, 2012). Based on extensive experimentation with animal models of peripheral nerve injury, Taub and colleagues have created an approach to overcoming…
Descriptors: Injuries, Behavior Disorders, Therapy, Genetics
Garbern, James Y.; Neumann, Manuela; Trojanowski, John Q.; Lee, Virginia M.-Y.; Feldman, Gerald; Norris, Joy W.; Friez, Michael J.; Schwartz, Charles E.; Stevenson, Roger; Sima, Anders A. F. – Brain, 2010
We have studied a family with severe mental retardation characterized by the virtual absence of speech, autism spectrum disorder, epilepsy, late-onset ataxia, weakness and dystonia. Post-mortem examination of two males revealed widespread neuronal loss, with the most striking finding being neuronal and glial tau deposition in a pattern reminiscent…
Descriptors: Severe Mental Retardation, Mental Retardation, Autism, Alzheimers Disease
Mouridsen, Svend Erik; Rich, Bente; Isager, Torben – Child Psychiatry and Human Development, 2008
In order to study the broader phenotype of infantile autism (IA) we compared the rates and types of epilepsy and other neurological diseases in the parents of 111 consecutively admitted patients with IA with a matched control group of parents of 330 children from the general population. All participants were screened through the nationwide Danish…
Descriptors: Mothers, Epilepsy, Autism, Parents
Scheffer, Ingrid E.; Turner, Samantha J.; Dibbens, Leanne M.; Bayly, Marta A.; Friend, Kathryn; Hodgson, Bree; Burrows, Linda; Shaw, Marie; Wei, Chen; Ullmann, Reinhard; Ropers, Hans-Hilger; Szepetowski, Pierre; Haan, Eric; Mazarib, Aziz; Afawi, Zaid; Neufeld, Miriam Y.; Andrews, P. Ian; Wallace, Geoffrey; Kivity, Sara; Lev, Dorit; Lerman-Sagie, Tally; Derry, Christopher P.; Korczyn, Amos D.; Gecz, Jozef; Mulley, John C.; Berkovic, Samuel F. – Brain, 2008
Epilepsy and Mental Retardation limited to Females (EFMR) which links to Xq22 has been reported in only one family. We aimed to determine if there was a distinctive phenotype that would enhance recognition of this disorder. We ascertained four unrelated families (two Australian, two Israeli) where seizures in females were transmitted through…
Descriptors: Epilepsy, Mental Retardation, Females, Genetics
Download full textSilver, Kathi O. – 1997
This literature review, from 1990 to the present, discusses the characteristics of autism and the comorbidity of mental retardation and autism. Specific medical syndromes that complement the heterogeneity concept are described, including epilepsy, fragile X syndrome, Rett syndrome, tuberous sclerosis, and Asperger syndrome. The paper presents some…
Descriptors: Adults, Asperger Syndrome, Autism, Children
Bolton, Patrick F. – Mental Retardation and Developmental Disabilities Research Reviews, 2004
Tuberous sclerosis is a genetic condition that is strongly associated with the development of an autism spectrum disorder. However, there is marked variability in expression, and only a subset of children with tuberous sclerosis develop autism spectrum disorder. Clarification of the mechanisms that underlie the association and variability in…
Descriptors: Autism, Etiology, Symptoms (Individual Disorders), Epilepsy
Moore, Cory; And Others – 1983
The guide lists and summarizes publications designed to help parents of children with disabilities. In the first section, publications covering general aspects of handicaps--including personal accounts of parents, early home intervention, schooling, adulthood, and additional information resources--are described. Section II presents information…
Descriptors: Attitudes, Autism, Behavior Modification, Civil Rights
