Impaired Cognitive Functioning in Patients with Tyrosinemia Type I Receiving Nitisinone
作者： Fatiha Bendadi , Tom J. de Koning , Gepke Visser , Hubertus C.M.T. Prinsen , Monique G.M. de Sain
DOI: 10.1016/J.JPEDS.2013.10.001
关键词:
摘要: Objective To examine cognitive functioning in patients with tyrosinemia type I treated nitisinone and a protein-restricted diet. Study design We performed cross-sectional study to establish children compared their unaffected siblings. Intelligence was measured using age-appropriate Wechsler Scales. assess development over time, we retrieved sequential IQ scores single-center subset of patients. also evaluated whether plasma phenylalanine tyrosine levels during treatment correlated development. Results Average total score 10 receiving significantly lower siblings (71 ± 13 vs 91 13; P = .008). Both verbal performance subscores differed (77 14 95 11; Conclusion Patients are at risk for impaired function despite
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