Background Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. Most cases concern healthy parents in whom mosaicism is identified upon targeted testing of a genetic defect that was initially detected in their children. A germline genetic defect affecting the euchromatin histone methyltransferase 1 (EHMT1) gene causes Kleefstra syndrome, whic...

Recent developments in the definitional literature on mental retardation emphasize the need to ground the concept of adaptive behavior in an expanded model of intelligence, which includes practical and social intelligence. Development of a direct measure of practical intelligence might increase the likelihood that an assessment of this domain would be included in the diagnostic process of menta...

introduction: the rate of mild mental retardation is about 2 percent among school children. these children are able to satisfy their needs and meet the community expectations. therefore, educational programs must be designed in such a way that they help this population develop suitable and effective social relations. the aim of the present study was to investigate the efficacy of drama therapy ...

OBJECTIVE There is limited information regarding the long-term outcome of inflicted traumatic brain injury (TBI), including shaken infant syndrome. The purpose of this study was to describe the long-term neurologic, behavioral, and cognitive sequelae seen in this population. METHODS A cross-sectional and prospective longitudinal study was conducted of 25 children with inflicted TBI in Scotlan...

BACKGROUND Though the Down syndrome behavioural phenotype has been described as involving relative strengths in visuo-spatial processing and sociability, and relative weaknesses in verbal skills and motor planning, the early emergence of this phenotypic pattern of strengths and weaknesses has not yet been fully explored. METHOD In this study, we compared the performance of eighteen 2 to 3-yea...

Folate receptor α (FRα) autoantibodies (FRAAs) are prevalent in autism spectrum disorder (ASD). FRAAs disrupt folate transport across the blood-brain barrier by binding to the FRα. Thyroid dysfunction is frequently found in children with ASD. We measured blocking and binding FRAAs and thyroid-stimulating hormone (TSH), free thyroxine (T4) (FT4), total triiodothyronine (T3) (TT3), reverse T3 (rT...

Although there is evidence of a distinct profile of executive dysfunction in Williams syndrome (WS), a rare genetically based neurodevelopmental disorder, the utility of informant reports of everyday executive function (EF) impairments and their relation to intelligence is not yet clear. Here we aimed to evaluate the functional impact of executive dysfunction in adults with WS and to establish ...

Prader-Willi syndrome (PWS), a rare genetic disorder caused by the lack of expression of paternal genes from chromosome 15q11-13, has been investigated for autism spectrum disorder (ASD) symptomatology in various studies. However, previous findings have been variable, and no studies investigating ASD symptomatology in PWS have exclusively studied children. We aimed to characterize social commun...