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

duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 ( ) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and ga...

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Bibliographic Details
Published in:Children (Basel) 2023-07, Vol.10 (7), p.1202
Main Authors: John Cherian, Dani, Ta, Daniel, Smith, Jeremy, Downs, Jenny, Leonard, Helen
Format: Article
Language:English
Subjects:
Anxiety
Caregivers
Children & youth
Chronic illnesses
Comorbidity
Constipation
Convulsions & seizures
Cross-sectional studies
Disability
Epilepsy
Families & family life
Intellectual disabilities
intellectual disability
MECP2 duplication syndrome
Medical technology
Mental health
multimorbidity
neurodevelopmental disorder
Neurodevelopmental disorders
Parents & parenting
Pneumonia
recurrent infections
Sleep
Streptococcus infections
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Description
Summary:duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 ( ) 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.
ISSN:2227-9067
2227-9067
DOI:10.3390/children10071202