Assessment of quality of life in families affected by maple syrup urine disease: a cross sectional study

Abstract

Objectives Maple syrup urine disease (MSUD) is considered one of the intoxication-type inborn errors of metabolism (IT-IEM). Patients with MSUD are afflicted with a chronic illness, and the disease and its management have both physical and psychological consequences for the patients and their families. The aim of this study was to assess the quality of life (QoL) and its main determining factors for patients with MSUD and their families under follow-up in Sohag University Hospital. Methods Parents of 36 patients with MSUD participated in a questionnaire translated into Arabic to assess their QoL. Subsequently, a file review was conducted to identify any key factors that could potentially influence the parents’ QoL. Results The results of the study indicated that 27 (75 %) of the MSUD patients exhibited poor QoL, while only 9 (25 %) patients reported good QoL across all studied aspects. Significant differences were observed between the two groups in terms of the disease onset, whether acute or asymptomatic (diagnosed before acute metabolic decompensation) (p=0.001) and the type of screening employed (p=0.007). Conclusions There is a paucity of data on the QoL of pediatric patients with IT-IEM, including MSUD. The methodological approaches and assessment instruments utilized in existing studies are inconsistent. Identifying the factors that affect QoL would be beneficial for improving patient care, evaluating outcomes and treatments, and planning effective social and psychological interventions to enhance the patients’ QoL.