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PedAM

Pediatric Disease Annotations & Medicines




Disease rett syndrome
Phenotype C0004936|mental disorders
Sentences 3
PubMedID- 23844202 Exclusion criteria included severe sensory or motor impairment, neurodevelopmental disorders of known etiology (rett syndrome, tuberous sclerosis, down syndrome, phenylketonuria, 22q deletion syndrome, fragile x syndrome and neurofibromatosis), gestational age less than 36 or greater than 42 weeks, and birth weight less than 2500 grams.
PubMedID- 23671101 The x-linked gene cyclin-dependent kinase-like 5 (cdkl5) is mutated in severe neurodevelopmental disorders, including some forms of atypical rett syndrome, but the function and regulation of cdkl5 protein in neurons remain to be elucidated.
PubMedID- 24891698 Among other pervasive developmental disorders, children with rett syndrome have been shown to benefit from music therapy in terms of indulgence in music, minute motion, language, personal relation and sociality.

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