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Developmental profile of patients with maple syrup urine disease
Author(s) -
Nord A.,
Doorninck W. J.,
Greene C.
Publication year - 1991
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800467
Subject(s) - maple syrup urine disease , asymptomatic , pediatrics , medicine , disease , urine , newborn screening , intelligence quotient , cognition , psychiatry , biology , biochemistry , leucine , amino acid
Summary The progress of nine maple syrup urine disease patients (eight classical, one possible variant) was reviewed to look for similarities in developmental patterns. A consistent developmental profile of stronger Verbal than Performance IQ and lower than familially expected IQ was seen. Younger age at diagnosis was associated with a milder neonatal course. Those who were asymptomatic or suffered mild complications in the newborn period have higher IQs than children experiencing moderate or severe complications. Children with asymptomatic or mild neonatal course also required less special education services. Overall, a picture of ubiquitous motor, visual‐analytic and learning deficits is seen.