Health-Related Quality of Life and Family Functioning of Primary Caregivers of Children with Menkes Disease.

ABSTRACT:

Background

Menkes disease (MD; OMIM #309400) is a progressive neurodegeneration that results from abnormalities in the copper metabolism which are already present before birth. It is an extremely rare condition. The study was conducted to assess the quality of life of children with MD syndrome and the impact of the disease on family functioning.

Methods

A cross-sectional questionnaire survey was used. The subjects were 16 parents of children with MD. The method used was the Paediatric Quality of Life Inventory and the PedsQL Family Impact Module and the author's own questionnaire.

Results

Quality of life (QOL) was 29.14 (SD = 14.73), with the lowest for physical functioning (M = 10.55; SD = 10.26) and highest for emotional functioning (M = 48.13; SD = 29.43). The high

SUBMITTER: Rozensztrauch A 

PROVIDER: S-EPMC10003328 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature