Early cognitive development in children with infantile Pompe disease.

摘要: Abstract This report describes the cognitive development of 17 children with infantile Pompe disease who participated in a 52-week clinical trial enzyme replacement therapy (ERT) via biweekly infusion Myozyme® (alglucosidase alfa). Subjects were six months age or younger (adjusted for gestational age) upon initiation ERT. The Mental Scale Bayley Scales Infant Development-Second Edition (BSID-II) was administered to obtain Development Index (MDI) at baseline and weeks 12, 26, 38, 52 ERT assess this treated cohort. Data regarding motor also obtained same visits these used determine correlations between development. Over course study, two subgroups subjects emerged: high responders sitting independently and/or ambulating by week (n = 13) limited showed minimal gains throughout first year (n = 4). In responder group, MDI scores on BSID-II remained stable study within normal limits. Positive present. These data suggest that function infants up 18 months is unaffected possible presence glycogen central nervous system. Continued investigation older survivors warranted.