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Direct linkLumish, 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
Uzun Cicek, Ayla; Sari, Seda Aybuke; Mercan Isik, Cansu – Journal of Mental Health Research in Intellectual Disabilities, 2020
Introduction: Intellectual disability (ID) is characterized by limitations in cognitive and adaptive functioning. The aim of this study is to examine sociodemographic characteristics, perinatal and childhood risk factors, and prevalence of psychiatric and biomedical comorbidities in children with ID. Methods: 260 patients with ID were included in…
Descriptors: Risk, Incidence, Case Studies, Comorbidity
Bowers, Katherine; Wink, Logan K.; Pottenger, Amy; McDougle, Christopher J.; Erickson, Craig – Autism: The International Journal of Research and Practice, 2015
The objective of the study was to characterize the phenotype of males and females with autism spectrum disorder born preterm versus those born at term. Descriptive statistical analyses identified differences between male and female autism spectrum disorder subjects born preterm compared to term for several phenotypic characteristics and…
Descriptors: Autism, Pervasive Developmental Disorders, Genetics, Gender Differences
McGrew, Susan G.; Peters, Brittany R.; Crittendon, Julie A.; Veenstra-VanderWeele, Jeremy – Journal of Autism and Developmental Disorders, 2012
Genetic testing is recommended for patients with ASD; however specific recommendations vary by specialty. American Academy of Pediatrics and American Academy of Neurology guidelines recommend G-banded karyotype and Fragile X DNA. The American College of Medical Genetics recommends Chromosomal Microarray Analysis (CMA). We determined the yield of…
Descriptors: Autism, Seizures, Neurological Impairments, Patients
Angkustsiri, Kathleen; Krakowiak, Paula; Moghaddam, Billur; Wardinsky, Terrance; Gardner, Jerald; Kalamkarian, Nareg; Hertz-Picciotto, Irva; Hansen, Robin L. – Autism: The International Journal of Research and Practice, 2011
Objective: There is clinical heterogeneity among the autism spectrum disorders (ASD). The presence of dysmorphology (minor physical anomalies; MPAs) is one possible tool for defining a clinically relevant subset in ASD. This study employs an adaptation of Miles and Hillman's (2000) classifications by using photographs to identify a subgroup with…
Descriptors: Genetic Disorders, Autism, Seizures, Genetics
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
Goldstein, Sam, Ed.; Reynolds, Cecil R., Ed. – Guilford Press, 2010
Recognized as the definitive reference in the field, this book addresses a broad range of biologically based disorders that affect children's learning and development. Leading authorities review the genetics of each disorder; its course and outcome; associated developmental, cognitive, and psychosocial challenges; and what clinicians and educators…
Descriptors: Neurological Impairments, Learning Problems, Behavior Problems, Genetics
Moretti, Paolo; Peters, Sarika U.; del Gaudio, Daniela; Sahoo, Trilochan; Hyland, Keith; Bottiglieri, Teodoro; Hopkin, Robert J.; Peach, Elizabeth; Min, Sang Hee; Goldman, David; Roa, Benjamin; Bacino, Carlos A.; Scaglia, Fernando – Journal of Autism and Developmental Disorders, 2008
We studied seven children with CNS folate deficiency (CFD). All cases exhibited psychomotor retardation, regression, cognitive delay, and dyskinesia; six had seizures; four demonstrated neurological abnormalities in the neonatal period. Two subjects had profound neurological abnormalities that precluded formal behavioral testing. Five subjects…
Descriptors: Mental Retardation, Autism, Seizures, Language Skills
Ishijima, Michiko; Kurita, Hiroshi – Journal of Autism and Developmental Disorders, 2007
The first case study of identical male twins concordant for DSM-IV Asperger's disorder (ASD) was presented. Their monozygocity was confirmed by short tandem repeat analyses with a probability of 99.999963%. Despite sharing the same DNA and environment, the twins are different in comorbidity (i.e., major depressive disorder in the elder and absence…
Descriptors: Case Studies, Behavior Problems, Probability, Neurology
Peer reviewedSmalley, Susan L.; And Others – Journal of Autism and Developmental Disorders, 1992
A literature review of autism and tuberous sclerosis complex (TSC) substantiates a significant association between the two. Studies of 14 autistic probands and 13 TSC probands identified 7 TSC subjects with autism, who had more seizures and mental retardation than those without autism. More male TSC probands with autism than female were…
Descriptors: Autism, Correlation, Genetics, Heredity
Walz, Nicolay Chertkoff – Journal of Autism and Developmental Disorders, 2007
Research examining autistic symptoms in Angelman syndrome (AS) is limited. The goal of this study was to further characterize the nature of stereotyped behaviors, social interaction deficits, and developmental disturbances in individuals with AS. Parents of 248 individuals between the ages of 3 and 22 completed a survey of autistic symptomatology…
Descriptors: Language Skills, Interpersonal Relationship, Rating Scales, Expressive Language
Polleux, Franck; Lauder, Jean M. – Mental Retardation and Developmental Disabilities Research Reviews, 2004
Autism is a complex, behaviorally defined, developmental brain disorder with an estimated prevalence of 1 in 1,000. It is now clear that autism is not a disease, but a syndrome with a strong genetic component. The etiology of autism is poorly defined both at the cellular and the molecular levels. Based on the fact that seizure activity is…
Descriptors: Autism, Seizures, Inhibition, Etiology
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
Lewis, Mark H. – Mental Retardation and Developmental Disabilities Research Reviews, 2004
Environmental restriction or deprivation early in development can induce social, cognitive, affective, and motor abnormalities similar to those associated with autism. Conversely, rearing animals in larger, more complex environments results in enhanced brain structure and function, including increased brain weight, dendritic branching,…
Descriptors: Autism, Seizures, Brain, Neurology
Crawley, Jacqueline N. – Mental Retardation and Developmental Disabilities Research Reviews, 2004
The importance of genetic factors in autism has prompted the development of mutant mouse models to advance our understanding of biological mechanisms underlying autistic behaviors. Mouse models of human neuropsychiatric diseases are designed to optimize (1) face validity, i.e., resemblance to the human symptoms; (2) construct validity, i.e.,…
Descriptors: Genetic Disorders, Animals, Autism, Seizures
