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Direct linkDamien Wright; Aisling Kenny; Lindsay A. M. Mizen; Andrew G. McKechanie; Andrew C. Stanfield – Journal of Autism and Developmental Disorders, 2025
SYNGAP1-related ID is a genetic condition characterised by global developmental delay and epilepsy. Individuals with SYNGAP1-related ID also commonly show differences in attention and social communication/interaction and frequently receive additional diagnoses of Autism Spectrum Disorder (ASD) or Attention Deficit Hyperactivity Disorder (ADHD). We…
Descriptors: Autism Spectrum Disorders, Attention Deficit Hyperactivity Disorder, Symptoms (Individual Disorders), Children
Yanan Zhao; Feng Lu; Ruoxi Ding; Dawei Zhu; Rong Zhang; Siwei Sun; Ping He; Xiaoying Zheng – Autism: The International Journal of Research and Practice, 2025
The prevalence of autism spectrum disorder in the world has increased over the last decade, but the prevalence, incidence, and characteristics of autism spectrum disorder in China were not well understood. Using administrative data, we aimed to estimate the prevalence and incidence of autism spectrum disorder and describe the co-occurring…
Descriptors: Incidence, Autism Spectrum Disorders, Symptoms (Individual Disorders), Foreign Countries
Failla, Michelle D.; Schwartz, Kyle L.; Chaganti, Shikha; Cutting, Laurie E.; Landman, Bennett A.; Cascio, Carissa J. – Autism: The International Journal of Research and Practice, 2021
Individuals with autism spectrum disorder experience a significant number of co-occurring medical conditions, yet little is known about these conditions beyond prevalence. Using large-scale de-identified medical records, we can use a novel phecode-based tool to characterize co-occurring conditions in autism spectrum disorder. We hypothesized that…
Descriptors: Autism, Pervasive Developmental Disorders, Comorbidity, Neurological Impairments
Barton, Erin E.; Choi, Gounah; Mauldin, Evelyn G. – Journal of Early Intervention, 2019
Children with disabilities demonstrate fewer complex pretend play behaviors than children with typical development, which might limit their social participation in early childhood settings. A multiple-probe design was used to examine the relation between a single prompt procedure--constant time delay--and the acquisition, maintenance, and…
Descriptors: Play, Imagination, Disabilities, Early Childhood Education
Gadow, Kenneth D.; Perlman, Greg; Weber, Rebecca J. – Journal of Autism and Developmental Disorders, 2017
Examined the psychiatric and clinical correlates of loss of previously acquired skills (regression) as reported by parents of youth with autism spectrum disorder (ASD). Study sample comprised 6- to 18-year old (N = 213) children and adolescents with ASD. Parents reported regression in 77 (36%) youth. A more homogeneous subgroup with regression…
Descriptors: Autism, Pervasive Developmental Disorders, Epilepsy, Intelligence Quotient
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
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
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
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
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
Koy, Anne; Assmann, Birgit; Klepper, Joerg; Mayatepek, Ertan – Developmental Medicine & Child Neurology, 2011
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by a defect in glucose transport across the blood-brain barrier. The main symptoms are epilepsy, developmental delay, movement disorders, and deceleration of head circumference. A ketogenic diet has been shown to be effective in controlling epilepsy in GLUT1-DS. We report a female…
Descriptors: Intelligence, Epilepsy, Dietetics, Developmental Delays
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
Parikh, Sumit – Developmental Disabilities Research Reviews, 2010
The nervous system contains some of the body's most metabolically demanding cells that are highly dependent on ATP produced via mitochondrial oxidative phosphorylation. Thus, the neurological system is consistently involved in patients with mitochondrial disease. Symptoms differ depending on the part of the nervous system affected. Although almost…
Descriptors: Diseases, Patients, Anatomy, Genetic Disorders
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
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
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