The primary aim of this study was to ascertain the psychosocial issues faced by families affected by maple syrup urine disease (MSUD). The psychosocial adjustment and quality of life of children with MSUD were also described. Participants included 55 families and their children (ages 5 to 18 years) and teachers. Measures included a MSUD Family Survey, the Behavior Assessment System for Children (BASC) and the Pediatric Quality of Life Inventory (PedsQL). Parents reported via the MSUD Family Survey that the greatest sources of stress were financial and emotional. Many parents reported difficulty interacting with the medical staff and with schools. On the BASC, half of the children fell within the average range in psychosocial adjustment, although there were elevations in scales measuring attention, hyperactivity, and learning problems. On the PedsQL, the mean quality of life scores were closer to children with cancer than to a healthy sample. Despite the emotional and financial burden, parents reported that MSUD has also had a positive influence on their lives, leading to a world-view that is more compassionate and caring.

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.