Packman Wendy, Mehta Indira, Rafie Samantha, Mehta Jayanthi, Naldi Mariana, Mooney Kim Hart
Pacific Graduate School of Psychology, Palo Alto University, CA 94304, USA.
J Genet Couns. 2012 Oct;21(5):692-703. doi: 10.1007/s10897-012-9490-1. Epub 2012 Feb 17.
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.
枫糖尿症（MSUD）是一种常染色体隐性疾病，全球发病率为1/185000活产儿。无论哪种类型的MSUD，治疗都包括立即并终身限制异亮氨酸、亮氨酸和缬氨酸的饮食摄入。关于MSUD对成年早期发育里程碑的心理社会影响，目前了解甚少。我们采用定性案例研究方法，探索MSUD对年轻人（n = 8）和父母（n = 8）的个人体验。所有参与者都接受了半结构化的定性访谈以及定量测量。出现了六个核心主题：1）饮食管理的终身压力；2）与同龄人社交隔离及对约会的影响；3）MSUD对学业和就业的影响；4）医疗经历及向成人护理的过渡；5）对家庭功能的影响；6）积极影响与成长。本调查结果突出并扩展了对患有MSUD的年轻人心理和社会需求的认识。这项研究呼吁在治疗这些患者及其家庭方面开展协作性的多学科努力。
