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.
Similar content being viewed by others
References
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
Committee for Improvement of Hereditary Disease Management. Management of maple syrup urine disease in Canada.Can. Med. Assoc. J. 115 (1976) 1005–1013
Dancis, J., Levitz, M., Miller, S. and Westall, R. G. Maple syrup urine disease.Br. Med. J. 1 (1959) 91–93
Flynn, J. R. The mean IQ of Americans: Massive gains 1932 to 1978.Psychol. Bull. 95(1) (1984) 29–51
Flynn, J. R. Massive IQ gains in 14 nations: What IQ tests really measure.Psychol. Bull. 101(2) (1987) 171–191
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
Jastak, S. and Wilkinson, G. S.Wide range achievement test—revised. Administration Manual, 1984 revised edition. Jastak Associates, Wilmington, DE, 1984
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
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
Menkes, J. H. Maple syrup disease. Isolation and identification of organic acids in the urine.Pediatrics 23(1) (1959) 348–353
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
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
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
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
Snyderman, S. E. The therapy of maple syrup urine disease.Am. J. Dis. Child. 113 (1967) 68–75
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
Wechsler, D.Wechsler Intelligence Scale for Children. The Psychological Corp., New York, 1949.
Wechsler, D.Wechsler Adult Intelligence Scale. The Psychological Corp., New York, 1955
Wechsler, D.Wechsler Preschool and Primary Scale of Intelligence. The Psychological Corp., New York, 1967
Wechsler, D.Wechsler Intelligence Scale for Children—Revised. The Psychological Corp., New York, 1974
Wechsler, D.Wechsler Adult Intelligence Scale—Revised. The Psychological Corp., New York, 1981
Westall, R. G. Dietary treatment of a child with maple syrup urine disease (branched-chain ketoaciduria).Arch. Dis. Child. 38 (1963) 485–491
Westall, R. G., Dancis, J. and Miller, S. Maple sugar urine disease.Am. J. Dis. Child. 94 (1957) 571–572
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01800467