Journal of Genetic Counseling

, Volume 21, Issue 5, pp 692–703 | Cite as

Young Adults with MSUD and Their Transition to Adulthood: Psychosocial Issues

  • Wendy Packman
  • Indira Mehta
  • Samantha Rafie
  • Jayanthi Mehta
  • Mariana Naldi
  • Kim Hart Mooney
Original Research


Maple Syrup Urine Disease (MSUD) is an autosomal recessive condition with an incidence of 1 in 185,000 births worldwide. Regardless of the type of MSUD, treatment includes immediate and lifelong dietary restriction of isoleucine, leucine and valine. There is little known about the psychosocial impact of MSUD on the developmental milestones of emerging adulthood. We used a qualitative case study approach to explore the human experiences of MSUD on young adults (n = 8) and parents (n = 8). All participants were administered a semi-structured, qualitative interview as well as quantitative measures. Six core themes emerged: 1) lifelong strain of dietary management; 2) social isolation from peers and impact on dating; 3) impact of MSUD on academics and employment; 4) medical experiences and transition to adult care; 5) impact on family functioning; and 6) positive effects and growth. The results of this investigation highlight and expand awareness of the psychological and social needs of young adults with MSUD. This study calls for a collaborative, multidisciplinary effort in the treatment of these patients and their families.


Maple syrup urine disease (MSUD) Psychosocial Coping Genetic counseling Emerging adulthood 



This work could not have been performed without the assistance and support of the MSUD Support Group. The authors wish to thank Cindy Morgan M.S., CGC and Seymour Packman, MD for invaluable assistance and input, as they worked with us and the patients and families with MSUD disease. We also thank Craig Landers for his assistance with data analysis and Valentina Shehu for assistance with interview transcription.

Most importantly, we would like to thank all participants for their cooperation


  1. Arnett, J. J. (2000). Emerging adulthood: a theory of development from the late teens through the twenties. American Psychologist, 55, 469–480.PubMedCrossRefGoogle Scholar
  2. Arnett, J. J., & Taber, S. (1994). Adolescence terminable and interminable: when does adolescence end? Journal of Youth and Adolescence, 23, 517–537.CrossRefGoogle Scholar
  3. Callahan, S. T., & Cooper, W. O. (2007). Continuity of health insurance coverage among young adults with disabilities. Pediatrics, 119, 1175–1180.PubMedCrossRefGoogle Scholar
  4. Cederbaum, J. A., Lemons, C., Rosen, M., Abrens, M., Vonachen, S., & Cederbaum, S. (2001). Psychosocial issues and coping strategies in families affected by urea cycle disorders. Journal of Pediatrics, 138, S72–S80.PubMedCrossRefGoogle Scholar
  5. Dancis, J. (1974). Variants of maple syrup urine disease. In W. L. Nyan (Ed.), Heritable disorders of amino acid metabolism (pp. 32–36). New York: Wiley.Google Scholar
  6. Freed, G., & Hudson, E. (2006). Transitioning children with chronic diseases to adult care: current knowledge, practices, and directions. Journal of Pediatrics, 148, 824–827.PubMedCrossRefGoogle Scholar
  7. Hartman, A., DePoy, E., Francis, C., & Gilmer, D. (2000). Adolescents with special health care needs in transition: three life histories. Social Work in Health Care, 31, 43–57.PubMedCrossRefGoogle Scholar
  8. Henderson, S., Packman, W., & Packman, S. (2009). Psychological aspects of patients with Niemann-Pick disease, Type B. American Journal of Medical Genetics, 149(A), 2430–2436.Google Scholar
  9. Hilliges, C., Awiszus, D., & Wendel, U. (1993). Intellectual performance of children with maple syrup urine disease. European Journal of Pediatrics, 152, 144–147.PubMedCrossRefGoogle Scholar
  10. Jurecki, E. (2006). MSUD Newsletter, Summer/Fall 2006.Google Scholar
  11. Kaplan, P., Mazur, A., Field, M., Berlin, J. A., Berry, G. T., & Heidenreich, R. (1991). Intellectual outcome in children with maple syrup urine disease. Journal of Pediatrics, 119, 46–50.PubMedCrossRefGoogle Scholar
  12. Kaufman, A. S. (1994). Intelligent testing with the WISC-III. New York: Wiley.Google Scholar
  13. Lee, P. J. (2002). Growing older: the adult metabolic clinic. Journal of Inherited Metabolic Disease, 25, 252–260.PubMedCrossRefGoogle Scholar
  14. Malee, K., William, P. L., Montepiedra, G., Nicholas, S., Siroious, P. A., & Storm, D. (2008). The role of cognitive functioning in medication adherence of children with HIV. Journal of Pediatric Psychology, 34, 164–175.PubMedCrossRefGoogle Scholar
  15. Martire, L. M., & Schulz, R. (2007). Involving family in psychosocial interventions for chronic illness. Current Directions in Psychological Science, 16, 90–94.CrossRefGoogle Scholar
  16. Mellin, A. E., Neumark-Sztainer, D., & Patterson, J. M. (2004). Parenting adolescent girls with type 1 diabetes: parents’ perspectives. Journal of Pediatric Psychology, 29, 221–230.PubMedCrossRefGoogle Scholar
  17. Mutze, U., Roth, A., Weigel, J. F. W., Beblo, S., Baerwald, C. G., Buhrdel, P., et al. (2011). Transition of young adults with phenylketonuria from pediatric to adult care. Journal of Inherited Metabolic Disease, 34, 701–709.PubMedCrossRefGoogle Scholar
  18. Muuss, R. E. (1988). Theories of adolescence. New York: Random House.Google Scholar
  19. Nord, A., Van Doorninck, W. J., & Greene, C. (1991). Developmental profile of patients with maple syrup urine disease. Journal of Inherited Metabolic Disease, 14, 881–889.PubMedCrossRefGoogle Scholar
  20. Packman, W., Crosbie, T., Riesner, A., Fairley, C., & Packman, S. (2006). Psychological complications of patients with Gaucher disease. Journal of Inherited Metabolic Disease, 29, 99–105.PubMedCrossRefGoogle Scholar
  21. Packman, W., Henderson, S., Mehta, I., Ronen, R., Danner, D., Chesterman, B., et al. (2007). Psychosocial and behavioral issues in families affected by MSUD. Journal of Genetic Counseling, 16, 799–809.PubMedCrossRefGoogle Scholar
  22. Palmer, M. L., & Boisen, L. S. (2002). Cystic fibrosis and the transition to adulthood. Social Work in Health Care, 36, 45–58.PubMedCrossRefGoogle Scholar
  23. Sattler, J. M. (1992). Assessment of children (3rd ed.). San Diego: Jerome M. Sattler Publisher.Google Scholar
  24. Simon, E., Schwarz, M., & Wendel, U. (2007). Social outcomes in adults with Maple Syrup urine disease (MSUD). Journal of Inherited Metabolic Disease, 30(2), 264.PubMedCrossRefGoogle Scholar
  25. Storch, E., Kelley, M., Merlo, L., Marni, J., Correia, C., & Weinstein, D. (2008). Psychosocial functioning in youth with Glycogen Storage Disease type I. Journal of Pediatric Psychology, 33, 728–738.PubMedCrossRefGoogle Scholar
  26. Strauss, K. A., Puffenburger, E. G., & Morton, D. H. (2009). Maple syrup urine disease. Resource document. GeneReviews at GeneTests: Medical Genetics Information Resource. Accessed 12 September 2011.
  27. Suris, J., Michaud, P., & Viner, R. (2004). The adolescent with a chronic condition. Part I: Developmental Issues & Part II: Healthcare Provision. Archives of Disease in Childhood, 89, 938–949.PubMedCrossRefGoogle Scholar
  28. Tansella, C. Z. (1995). Psychosocial factors and chronic illness in childhood. European Psychiatry, 10, 297–305.CrossRefGoogle Scholar
  29. Tong, E. M., Sparacino, P. S., Messias, D. K., Foote, D., Chesla, C. A., & Gilliss, C. L. (1998). Growing up with congenital heart disease: the dilemmas of adolescents and young adults. Cardiology in the Young, 8, 303–309.PubMedCrossRefGoogle Scholar
  30. Varni, J. W., Sherman, S. A., Burwinkle, T. M., Dickinson, P. E., & Dixon, P. (2004). The PedsQL™ family impact module: preliminary reliability and validity. Health and Quality of Life Outcomes, 2, 1–6.CrossRefGoogle Scholar
  31. Wiener, L., Kohrt, B. A., Battles, H. B., & Pao, M. (2011). The HIV experience: youth identified barriers for transitioning from pediatric to adult care. Journal of Pediatric Psychology, 36, 141–154.PubMedCrossRefGoogle Scholar
  32. Wilcox, W., & Cederbaum, S. (2007). Amino acid metabolism. In D. L. Rimoin, J. M. Connor, R. E. Pyeritiz, & B. R. Korf (Eds.), Emery and Rimoin’s principles and practice of medical genetics (pp. 2175–2178). London: Churchill Livingstone.Google Scholar
  33. Woodgate, R. (1998). Adolescents’ perspectives of chronic illness: “it’s hard”. Journal of Pediatric Nursing, 13, 210–223.PubMedCrossRefGoogle Scholar
  34. Yin, R. K. (1993). Applications of case study research. Thousand Oaks: Sage.Google Scholar
  35. Zukerman, J. M., Devine, K. A., & Holmbeck, G. N. (2011). Adolescent predictors of emerging adulthood milestones in youth with spina bifida. Journal of Pediatric Psychology, 26, 265–276.CrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2012

Authors and Affiliations

  • Wendy Packman
    • 1
  • Indira Mehta
    • 2
  • Samantha Rafie
    • 1
  • Jayanthi Mehta
    • 2
  • Mariana Naldi
    • 1
  • Kim Hart Mooney
    • 3
  1. 1.Pacific Graduate School of PsychologyPalo Alto UniversityPalo AltoUSA
  2. 2.Division of Medical Genetics, Department of PediatricsUniversity of CaliforniaSan FranciscoUSA
  3. 3.BioMarin Pharmaceutical Inc.NovatoUSA

Personalised recommendations