"Living an Obstacle Course": A Qualitative Study Examining the Experiences of Caregivers of Children with Rett Syndrome.

Pilar Famoso-Pérez,Paula Paras-Bravo,Domingo Palacios-Ceña,Jorge Pérez-Corrales,Jaime Salom-Moreno,Pilar Carrasco-Garrido,Javier Güeita-Rodriguez

doi:10.3390/ijerph16010041

Abstract

Background: Rett syndrome has considerable effects on the quality of life of affected children, impairing everyday activities and potentially impacting the life of both the caregivers and the family. Our aim was to explore the experiences of a group of caregivers of children with Rett syndrome with regards to living and caring for their children. Methods: We conducted a qualitative case study to examine how 31 caregivers of children with Rett syndrome perceived living with their children. Data were collected through in-depth interviews, focus groups, researchers’ field notes and caregivers’ personal documents. A thematic analysis was performed following the Consolidated Criteria for Reporting Qualitative Research (COREQ) guideline. Results: The experience of being a caregiver of a child with Rett syndrome was expressed as being akin to an “obstacle course”, and was described via three main themes: (a) looking for answers, with two subthemes identified, namely ‘the first symptoms’, and ‘the need for a diagnosis’; (b) managing day to day life, with the subthemes ‘applying treatments’, and ‘learning to care’; and (c) money matters. Conclusions: Rett syndrome has a considerable impact on the lives of the caregivers involved. The health-care process and the management of economic resources are some of the aspects highlighted by caregivers. These findings have important implications for the planning of support services, health systems and health policies.

Highlights

A neurological disorder, Rett syndrome (RTT) arises due to mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator
The experience of being a caregiver of a child with RTT was experienced as being akin to facing an “obstacle course”, described via three main themes: (a) looking for answers, with two subthemes identified: the first symptoms, and the need for a diagnosis; (b) managing day-to-day life, with two subthemes applying treatments, and learning to care; and (c) money matters
Our results show how the mothers are those who identify the first symptoms of RTT, coinciding with previous studies [3,13,28,29], where the person who discovered the first symptoms was the primary caregiver, a role which was faced by the women [3,11,13,28]

Summary

Introduction

A neurological disorder, Rett syndrome (RTT) arises due to mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator. Rett syndrome can be identified via numerous symptoms These include a decline in head growth, abnormalities of gait, loss of hand movements, which are invariably replaced with repetitive movement, loss of speech and respiration difficulties [1,2]. Our aim was to explore the experiences of a group of caregivers of children with Rett syndrome with regards to living and caring for their children. The health-care process and the management of economic resources are some of the aspects highlighted by caregivers. These findings have important implications for the planning of support services, health systems and health policies

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Discussion

Conclusion