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Direct linkO'Rourke, Declan J.; Ryan, Stephanie; Salomons, Gajja; Jakobs, Cornelis; Monavari, Ahmad; King, Mary D. – Developmental Medicine & Child Neurology, 2009
Guanidinoacetate methyltransferase (GAMT) deficiency is a disorder of creatine biosynthesis, characterized by early-onset learning disability and epilepsy in most affected children. Severe expressive language delay is a constant feature even in the mildest clinical phenotypes. We report the clinical, biochemical, imaging, and treatment data of two…
Descriptors: Siblings, Delayed Speech, Epilepsy, Mental Retardation
Kilincaslan, Ayse; Mukaddes, Nahit Motavalli – Developmental Medicine & Child Neurology, 2009
The aim of the present study was to describe the prevalence and associated factors of pervasive developmental disorders (PDD), including autistic disorder and PDD not otherwise specified (NOS), in a clinical sample of 126 children and adolescents (75 males, 51 females; age range 4-18y, mean 8y 8mo, SD 3y 8mo) with tetraplegic, hemiplegic,…
Descriptors: Child Development, Check Lists, Delayed Speech, Epilepsy
