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Developmental profile of patients with maple syrup urine disease

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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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  1. Clow, C. L., Reade, T. M. and Scriver, C. R. Outcome of early and long-term management of classical maple syrup urine disease.Pediatrics 68 (1981) 856–862

  2. Committee for Improvement of Hereditary Disease Management. Management of maple syrup urine disease in Canada.Can. Med. Assoc. J. 115 (1976) 1005–1013

  3. Dancis, J., Levitz, M., Miller, S. and Westall, R. G. Maple syrup urine disease.Br. Med. J. 1 (1959) 91–93

  4. Flynn, J. R. The mean IQ of Americans: Massive gains 1932 to 1978.Psychol. Bull. 95(1) (1984) 29–51

  5. Flynn, J. R. Massive IQ gains in 14 nations: What IQ tests really measure.Psychol. Bull. 101(2) (1987) 171–191

  6. Goodman, S. I., Pollack, S., Miles, B. and O'Brien, D. (eds.). The treatment of maple syrup urine disease.J. Pediatr. 75(3) (1969) 485–488

  7. Jastak, S. and Wilkinson, G. S.Wide range achievement test—revised. Administration Manual, 1984 revised edition. Jastak Associates, Wilmington, DE, 1984

  8. Koch, R., Shaw, K. N. F. and Durkin, F. (eds.).Maple syrup urine disease symposium. Issues and perspectives. DHEW Publication No. (HSA) 79–5294, 1977

  9. Mackenzie, D. Y. and Woolf, L. I. “Maple syrup urine disease” an inborn error of the metabolism of valine, leucine, and isoleucine associated with gross mental deficiency.Br. Med. J. 1 (1959) 90–91

  10. Menkes, J. H. Maple syrup disease. Isolation and identification of organic acids in the urine.Pediatrics 23(1) (1959) 348–353

  11. Menkes, J. H., Hurst, P. L. and Craig, J. M. A new syndrome: Progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.Pediatrics 14 (1954) 462–466

  12. Naughten, E. R., Jenkins, J., Francis, D. E. M. and Leonard, J. V. Outcome of maple syrup urine disease.Arch. Dis. Child. 57 (1982) 918–921

  13. Schwartz, J. F. and Kolendrianos, E. T. Maple syrup urine disease: A review with a report of an additional case.Dev. Med. Child. Neurol. 11 (1969) 460–470

  14. Scriver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D. (eds.).The Metabolic Basis of Inherited Disease, 6th edn., McGraw-Hill, New York, 1989, p. 686

  15. Snyderman, S. E. The therapy of maple syrup urine disease.Am. J. Dis. Child. 113 (1967) 68–75

  16. Snyderman, S. E., Norton, P. M., Roitman, E. and Holt, L. E. Maple syrup urine disease, with particular reference to dietotherapy.Pediatrics 34 (1964) 454–472

  17. Wechsler, D.Wechsler Intelligence Scale for Children. The Psychological Corp., New York, 1949.

  18. Wechsler, D.Wechsler Adult Intelligence Scale. The Psychological Corp., New York, 1955

  19. Wechsler, D.Wechsler Preschool and Primary Scale of Intelligence. The Psychological Corp., New York, 1967

  20. Wechsler, D.Wechsler Intelligence Scale for Children—Revised. The Psychological Corp., New York, 1974

  21. Wechsler, D.Wechsler Adult Intelligence Scale—Revised. The Psychological Corp., New York, 1981

  22. Westall, R. G. Dietary treatment of a child with maple syrup urine disease (branched-chain ketoaciduria).Arch. Dis. Child. 38 (1963) 485–491

  23. Westall, R. G., Dancis, J. and Miller, S. Maple sugar urine disease.Am. J. Dis. Child. 94 (1957) 571–572

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