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

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 infectio...

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Detalles Bibliográficos
Autores principales: John Cherian, Dani, Ta, Daniel, Smith, Jeremy, Downs, Jenny, Leonard, Helen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10377896/
https://www.ncbi.nlm.nih.gov/pubmed/37508699
http://dx.doi.org/10.3390/children10071202
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author John Cherian, Dani
Ta, Daniel
Smith, Jeremy
Downs, Jenny
Leonard, Helen
author_facet John Cherian, Dani
Ta, Daniel
Smith, Jeremy
Downs, Jenny
Leonard, Helen
author_sort John Cherian, Dani
collection PubMed
description 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.
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spelling pubmed-103778962023-07-29 How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome John Cherian, Dani Ta, Daniel Smith, Jeremy Downs, Jenny Leonard, Helen Children (Basel) Article 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. MDPI 2023-07-11 /pmc/articles/PMC10377896/ /pubmed/37508699 http://dx.doi.org/10.3390/children10071202 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
John Cherian, Dani
Ta, Daniel
Smith, Jeremy
Downs, Jenny
Leonard, Helen
How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome
title How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome
title_full How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome
title_fullStr How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome
title_full_unstemmed How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome
title_short How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome
title_sort how families manage the complex medical needs of their children with mecp2 duplication syndrome
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10377896/
https://www.ncbi.nlm.nih.gov/pubmed/37508699
http://dx.doi.org/10.3390/children10071202
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