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Direct linkMacLean, 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
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
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
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
McVicar, Kathryn A.; Shinnar, Shlomo – Mental Retardation and Developmental Disabilities Research Reviews, 2004
The Landau-Kleffner syndrome (LKS) and electrical status epilepticus in slow wave sleep (ESES) are rare childhood-onset epileptic encephalopathies in which loss of language skills occurs in the context of an epileptiform EEG activated in sleep. Although in LKS the loss of function is limited to language, in ESES there is a wider spectrum of…
Descriptors: Language Skill Attrition, Pathology, Language Skills, Autism
