How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome.

ABSTRACT: MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents. The data were coded into three categories: (1) complex care needs in the home, (2) highly skilled caregivers, and (3) impact on caregivers and families. Complex 24 h care was required and parents developed complex skillsets to ensure

SUBMITTER: John Cherian D 

PROVIDER: S-EPMC10377896 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature