Everyday Activities for Children with Mitochondrial Disorder: A Retrospective Chart Review.

Marieke Lindenschot,Imelda J M De Groot,Saskia Koene,Maria W G Nijhuis-Van Der Sanden,Ton Satink,Esther M J Steultjens

doi:10.1155/2018/5716947

Abstract

Background Engagement in everyday activities is important for the health and wellbeing of children. Children with mitochondrial disorders have impaired energy production leading to limitations in activity. It is unknown which activities these children perform and if the nature of activities of low-functioning children differs from average-functioning children. Therefore, this pilot study explored the activities reported in patient records of a heterogeneous group of children with genetically confirmed mitochondrial disorders. Methods A retrospective qualitative directed content analysis by health care professionals reported activities (as part of their professional reasoning obligations) in hospital patient records of children with mitochondrial disorder. Results Seventeen patient records, presenting notes on capacities and performed activities, showed an overview of everyday activities that covered the categories: self-care, house chores, therapy, school, computing, hobby, play, sports, and mobility/transport. The activity categories of low-functioning children did not differ from average-functioning children, although descriptions of specific activities differed between groups. Conclusion This pilot exploration indicates that the types of activities that children with mitochondrial disorders perform are not necessarily linked to the child's impairments. However, differences in levels of independence, assistive device usage, and energy costs seem to exist. Future research should address the child's perspective on, and meaning of, activity performances.

Highlights

Performing everyday activities is viewed as an important factor for the wellbeing of an individual and is an important determinant of health [1,2,3]
Mitochondrial disorders can be caused by mutation of genes encoded by either nuclear DNA or mitochondrial DNA [8]
Eight children had a mutation on their nuclear DNA and nine children on mitochondrial DNA

Summary

Introduction

Performing everyday activities is viewed as an important factor for the wellbeing of an individual and is an important determinant of health [1,2,3]. Children with a mitochondrial disorder experience these limitations in performing everyday activities due to motor and cognitive impairments including muscle weakness, balance problems, concentration problems, and intellectual disability [13]. These impairments have consequences for daily living activities and participation. Children with mitochondrial disorders have impaired energy production leading to limitations in activity It is unknown which activities these children perform and if the nature of activities of low-functioning children differs from average-functioning children. This pilot study explored the activities reported in patient records of a heterogeneous group of children with genetically confirmed mitochondrial disorders.

Results

Discussion

Conclusion