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Brief Report: "SETD2" Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy
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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
Part One: Infantile Spasms--The New Consensus
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Pellock, John – Exceptional Parent, 2011
Infantile spasms (IS, West syndrome) represent a difficult to treat and sometimes not immediately recognized form of epilepsy which is relatively rare. West Syndrome or IS is one of the most recognized types of epileptic encephalopathy, a form of epilepsy usually associated with developmental regression and delay, frequently difficult to treat and…
Descriptors: Epilepsy, Seizures, Brain, Developmental Delays
Sex Differences in Co-Occurring Conditions of Children with Autism Spectrum Disorders
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Stacy, Maria E.; Zablotsky, Benjamin; Yarger, Heather A.; Zimmerman, Andrew; Makia, Barraw; Lee, Li-Ching – Autism: The International Journal of Research and Practice, 2014
This study investigated differences in co-occurring diagnoses made in females compared to males with autism spectrum disorders in 913 children (746 males and 167 females) living in the United States with a current autism spectrum disorder diagnosis identified via caregiver-reported data from the National Survey of Children's Health 2007. The…
Descriptors: Gender Differences, Comorbidity, Autism, Pervasive Developmental Disorders
Developmental Milestones in Toddlers with Atypical Development
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Horovitz, Max; Matson, Johnny L. – Research in Developmental Disabilities: A Multidisciplinary Journal, 2011
The attainment of developmental milestones was examined and compared in 162 infants and toddlers with developmental disabilities, including Down Syndrome (n = 26), Cerebral Palsy (n = 19), Global Developmental Delay (n = 22), Premature birth (n = 66), and Seizure Disorder (n = 29). Toddlers in the Seizures Disorder group began crawling at a…
Descriptors: Physical Activities, Seizures, Developmental Disabilities, Down Syndrome
Seizures in Fragile X Syndrome: Characteristics and Comorbid Diagnoses
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Berry-Kravis, Elizabeth; Raspa, Melissa; Loggin-Hester, Lisa; Bishop, Ellen; Holiday, David; Bailey, Donald B., Jr. – American Journal on Intellectual and Developmental Disabilities, 2010
A national survey of caregivers of individuals with fragile X syndrome addressed characteristics of epilepsy and co-occurring conditions. Of the 1,394 individuals (1,090 males and 304 females) with the full mutation, 14% of males and 6% of females reported seizures. Seizures were more often partial, began between ages 4 and 10 years, and were…
Descriptors: Seizures, Caregivers, National Surveys, Disabilities
Clinical and Imaging Heterogeneity of Polymicrogyria: A Study of 328 Patients
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Leventer, Richard J.; Jansen, Anna; Pilz, Daniela T.; Stoodley, Neil; Marini, Carla; Dubeau, Francois; Malone, Jodie; Mitchell, L. Anne; Mandelstam, Simone; Scheffer, Ingrid E.; Berkovic, Samuel F.; Andermann, Frederick; Andermann, Eva; Guerrini, Renzo; Dobyns, William B. – Brain, 2010
Polymicrogyria is one of the most common malformations of cortical development and is associated with a variety of clinical sequelae including epilepsy, intellectual disability, motor dysfunction and speech disturbance. It has heterogeneous clinical manifestations and imaging patterns, yet large cohort data defining the clinical and imaging…
Descriptors: Age, Epilepsy, Mental Retardation, Seizures
From mTOR to Cognition: Molecular and Cellular Mechanisms of Cognitive Impairments in Tuberous Sclerosis
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Ehninger, D.; de Vries, P. J.; Silva, A. J. – Journal of Intellectual Disability Research, 2009
Background: Tuberous sclerosis (TSC) is a multi-system disorder caused by heterozygous mutations in the "TSC1" or "TSC2" gene and is often associated with neuropsychiatric symptoms, including intellectual disability, specific neuropsychological deficits, autism, other behavioural disorders and epilepsy. Method: Here, we review evidence from animal…
Descriptors: Epilepsy, Mental Retardation, Seizures, Pathology
Epilepsy and Mental Retardation Limited to Females: An Under-Recognized Disorder
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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