How Families Manage the Complex Medical Needs of Their Children with Mecp2 Duplication Syndrome
Bibliographic Data
| ID | 15715404 |
|---|---|
| Authors | Dani John Cherian (0000-0003-2653-5233, The Kids Research Institute Australia), Daniel Ta (0000-0001-9875-0704, The University of Western Australia), J T Smith (0000-0002-0808-2739, The University of Western Australia), Jenny Downs (0000-0003-4847-7118, Curtin University), Helen Leonard (0000-0001-6405-5834, The University of Western Australia, corresponding author) |
| Year | 2023 |
| Volume | 10 |
| Issue | 7 |
| Pages | 1202-1202 |
| Publication date | 2023-07-11 |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Children (JOURNAL) |
| Journal identifiers | ISSN: 2227-9067 • E-ISSN: 2227-9067 |
| Publisher | Multidisciplinary Digital Publishing Institute (PUBLISHER • CH) |
| DOI | 10.3390/children10071202 |
| PMID | 37508699 |
| OpenAlex | W4384035806 |
| Language | EN |
| Citations received | 1 |
| References cited | 22 |
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
Gene duplication · Intellectual disability · MECP2 · Psychiatry · Rett syndrome · Adolescent and Pediatric Healthcare · Family and Disability Support Research · Genetics and Neurodevelopmental Disorders · Medicine · Pediatrics
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Thematic Analysis
| Citations per year | 1 |
|---|---|
| Citation span | 2026 - 2026 (1) |
| Highly cited | No |