Quality of health and health services in people with fragile X syndrome: perspective of their parents

Abstract

Purpose

People with fragile X syndrome (FXS), a monogenetic disorder with frequent autism spectrum disorder symptoms, are confronted with many health-related needs, especially concerning behavioural and mental problems. The number of publications about health inequalities or the usage of health services in persons with FXS is scarce in general. There is no information about the situation in Germany. The paper aims to discuss this issue.

Design/methodology/approach

Assessment of health status, access to, and satisfaction with health care in people with fragile X by a questionnaire completed by their parents.

Findings

A total of 74 questionnaires were included in the assessment. While children and adolescents with FXS often (40 per cent) utilised specialised services for the coordination of health-related services, adults most often made use of family doctors. Most parents described the health status of their relatives as good to excellent (89 per cent). However, the satisfaction with health care-related demands by family doctors, medical specialists, and psychotherapists was rated in the average to above average range.

Research limitations/implications

This paper is of special value as it gives insight into the perspective of parents concerning access to health care of FXS in Germany.

Originality/value

This paper gives a first insight concerning access of people with FXS to the German health care system.