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Direct linkPeters, S. U.; Hundley, R. J.; Wilson, A. K.; Carvalho, C. M. B.; Lupski, J. R.; Ramocki, M. B. – Journal of Autism and Developmental Disorders, 2013
The aim of this study was to determine the frequency, timing, and associated features of developmental regression in "MECP2" duplication syndrome. We also examined whether duplication size was associated with regression. Comprehensive psychological evaluations were used to assess 17 boys with "MECP2" duplication syndrome.…
Descriptors: Genetic Disorders, Males, Child Development, Language Skills
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
Edens, Anna C.; Lyons, Michael J.; Duron, Reyna M.; DuPont, Barbara R.; Holden, Kenton R. – Developmental Medicine & Child Neurology, 2011
We present two phenotypically similar females with Xp duplication who have autism and epilepsy. Case 1 is a 14-year-old Honduran female with autism and medically refractory complex partial, secondarily generalized epilepsy. Case 2 is a 3-year-old Austrian female with autism and medically refractory complex partial epilepsy. Both patients also…
Descriptors: Epilepsy, Females, Patients, Autism
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
MacLean, William E.; Dornbush, Kylee – Journal of Mental Health Research in Intellectual Disabilities, 2012
Self-injurious behavior (SIB) is a devastating condition associated with intellectual and developmental disabilities (IDD). Efforts to understand its development are focused on early childhood when the behavior first emerges. Limited prevalence data on SIB during early childhood are currently available. The purpose of this study was to determine…
Descriptors: Self Destructive Behavior, Incidence, Mental Retardation, Developmental Disabilities
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
Jauhari, Prashant; Boggula, Raju; Bhave, Anupama; Bhargava, Roli; Singh, Chandrakanta; Kohli, Neera; Yadav, Rajesh; Kumar, Rashmi – Developmental Medicine & Child Neurology, 2011
Aim: To study the aetiology of intellectual disability in patients presenting to hospital and the diagnostic yield of a standardized examination. Method: Over a 1-year period, the first three children presenting to the paediatric outpatients department (OPD) on 2 selected weekdays with developmental delay, suspected intellectual disability, or…
Descriptors: Maturity (Individuals), Mental Retardation, Seizures, Patients
Symons, Frank J.; Byiers, Breanne J.; Raspa, Melissa; Bishop, Ellen; Bailey, Donald B., Jr. – American Journal on Intellectual and Developmental Disabilities, 2010
We used National Fragile X Survey data in order to examine reported self-injurious behavior (SIB) to (a) generate lifetime and point prevalence estimates, (b) document detailed features of SIB (frequency, types, location, severity) in relation to gender, and (c) compare comorbid conditions between matched pairs (SIB vs. no SIB). Results indicate…
Descriptors: Topography, Self Destructive Behavior, Autism, Seizures
Battaglia, Agatino; Filippi, Tiziana; South, Sarah T.; Carey, John C. – Developmental Medicine & Child Neurology, 2009
To define the spectrum of epilepsy in Wolf-Hirschhorn syndrome (WHS) better, we studied 87 patients (54 females, 33 males; median age 5.6 years; age range 1-25.6 years) with confirmed 4p16.3 deletion. On the basis of clinical charts, we retrospectively analyzed the evolution of the electroencephalogram (EEG) findings and seizures. Epilepsy…
Descriptors: Age Differences, Epilepsy, Seizures, Identification
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
Bahi-Buisson, Nadia; Nectoux, Juliette; Rosas-Vargas, Haydee; Milh, Mathieu; Boddaert, Nathalie; Girard, Benoit; Cances, Claude; Ville, Dorothee; Afenjar, Alexandra; Rio, Marlene; Heron, Delphine; Morel, Marie Ange N'Guyen; Arzimanoglou, Alexis; Philippe, Christophe; Jonveaux, Philippe; Chelly, Jamel; Bienvenu, Thierry – Brain, 2008
Mutations in the human X-linked cyclin-dependent kinase-like 5 ("CDKL5") gene have been shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, less than 25 different mutations have been reported. So far, there are still little data on the key clinical diagnosis criteria and on the natural history of…
Descriptors: Females, Genetics, Seizures, Epilepsy
Taylor, Isabella; Berkovic, Samuel F.; Kivity, Sara; Scheffer, Ingrid E. – Brain, 2008
The early and late benign occipital epilepsies of childhood (BOEC) are described as two discrete electro-clinical syndromes, eponymously known as Panayiotopoulos and Gastaut syndromes. Our aim was to explore the clinical features, classification and clinical genetics of these syndromes using twin and multiplex family studies to determine whether…
Descriptors: Genetic Disorders, Twins, Epilepsy, Children
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
Molloy, C. A.; Murray, D. S.; Kinsman, A.; Castillo, H.; Mitchell, T.; Hickey, F. J.; Patterson, B. – Journal of Intellectual Disability Research, 2009
Background: Autism occurs 10 times more often in children with Down syndrome than in the general population, but diagnosing co-occurring autism in Down syndrome with severe intellectual disability is challenging. The objective of this case-control study was to identify characteristics differentiating children with trisomy 21 with and without…
Descriptors: Mental Retardation, Autism, Seizures, Down Syndrome
Vermeer, Sascha; Koolen, David A; Visser, Gepke; Brackel, Hein J. L.; van der Burgt, Ineke; de Leeuw, Nicole; Willemsen, Michel A. A. P.; Sistermans, Erik A.; Pfundt, Rolph; de Vries, Bert B. A. – Developmental Medicine & Child Neurology, 2007
A "de novo" 4.1-megabase microdeletion of chromosome 1p34.2p34.3 has been identified by array-based comparative genomic hybridization in a young male with severely delayed development, microcephaly, pronounced hypotonia, and facial dysmorphism. The deleted region encompasses 48 genes, among them the glucose transporter 1 ("SLC2A1" or "GLUT1")…
Descriptors: Males, Seizures, Genetics, Developmental Delays
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