Abstract
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.
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Acknowledgements
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
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Wendy Packman and Indira Mehta contributed equally towards this work.
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Packman, W., Mehta, I., Rafie, S. et al. Young Adults with MSUD and Their Transition to Adulthood: Psychosocial Issues. J Genet Counsel 21, 692–703 (2012). https://doi.org/10.1007/s10897-012-9490-1
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DOI: https://doi.org/10.1007/s10897-012-9490-1