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Developmental profile of patients with maple syrup urine disease

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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.

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Nord, A., van Doorninck, W.J. & Greene, C. Developmental profile of patients with maple syrup urine disease. J Inherit Metab Dis 14, 881–889 (1991). https://doi.org/10.1007/BF01800467

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Keywords

  • Public Health
  • Internal Medicine
  • Metabolic Disease
  • Disease Patient
  • Special Education