Research Article: 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 that this was delivered well to their child. The provision of extensive complex medical care in the home had an impact on parent mental and physical health, family dynamics, and finances. This study captures the management of high-burden comorbidities in MDS at home. Investigations into how best to support caregiver wellbeing to reduce their stresses, whilst maintaining optimal child health and wellbeing, are needed.
Introduction:
In 1999, Lubs and colleagues discovered an X-linked syndrome that caused severe central nervous deterioration and multiple respiratory infections [1]. More than 20 years later, this disorder is now known as MECP2 duplication syndrome (MDS; OMIM 300260), a rare neurodevelopmental disorder caused by the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include, but are not limited to, infantile hypotonia, global developmental delay, severe intellectual disability, regressive…
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