Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening.

ABSTRACT: Newborn screening (NBS) is one of the most effective measures of secondary prevention. While the benefit of NBS on the clinical long-term outcomes of children with inherited metabolic diseases (IMD) has been demonstrated, the potential burden of families living with an early diagnosed and treated child with an IMD has not been thoroughly investigated. The aim of this longitudinal questionnaire-based study on 369 families living with a child with an IMD was to investigate the psychosocial and financial burden following a true-positive NBS. The reported psychosocial burden differed between children and their parents, and was associated with the child's age, diagnosis, and treatment. At younger ages, parent-reported burden was higher for the parents than for the individual child, while it inc

SUBMITTER: Schnabel-Besson E 

PROVIDER: S-EPMC11670445 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature