Health-related quality of life of children and adolescents with the most common ectodermal dysplasia: focus group study and item development for a condition-specific patient-reported outcome measure

TL;DR

This study explores the quality of life of children and adolescents with hypohidrotic ectodermal dysplasia and develops a new questionnaire to capture their experiences.

Contribution

The study introduces a condition-specific patient-reported outcome measure for hypohidrotic ectodermal dysplasia based on qualitative interviews with patients and parents.

Findings

Heat intolerance and physical limitations significantly affect the emotional and social well-being of children with HED.

A new questionnaire with age-adjusted items was developed to assess health-related quality of life in children and adolescents with HED.

Coping strategies and supportive relationships are crucial for managing the challenges of HED.

Abstract

Hypohidrotic ectodermal dysplasia (HED) includes some rare congenital disorders affecting the skin, its appendages, and the teeth. Although hypohidrosis can be life-threatening, research on the impact of HED on the patient’s quality of life has been very limited so far. Aiming at the development of a condition-specific patient-reported outcome measure (PROM) assessing health-related quality of life (HRQoL), we studied the HRQoL of children and adolescents with HED.

Focus (group) interviews were conducted with patients at the age of 8 to 17 years and parents of patients aged 2–17 years, all recruited from the HED patient registry of the University Hospital Erlangen, Germany. A qualitative interview analysis was performed, identifying key themes and generating a category system based on relevant interview excerpts. Using the Card-sorting method, an item list for the pilot version of the questionnaire was made.

Eleven focus (group) interviews with 9 children/adolescents and 22 parents provided information on 24 patients. The analysis identified 562 statements about HRQoL, which were categorized into six main domains: physical well-being, emotional well-being, social well-being, autonomy, childcare/school/education, and parental well-being. On the basis of these statements, age-adjusted pilot versions of a questionnaire were developed, consisting of 83 items each: (1) an observer report for parents of children aged 2–7 years, (2) a self-report combined with an observer report for children and adolescents aged 8–17 years.

This study is the first to explore HRQoL of children and adolescents with HED through qualitative interviews. Our findings highlight the impact of heat intolerance on daily life, the emotional burden of physical limitations, and the crucial role of coping strategies, social inclusion, and supportive relationships. The final validation of the new PROM, which shall enable the systematic integration of patient perspectives into clinical practice and research, is underway.

What’s already known about this topic?

What does this study add?

Previous research has demonstrated that hypohidrosis and lack of teeth significantly impair daily life and HRQoL in individuals with HED. In addition, psychosocial burdens, such as stigmatization and social withdrawal resulting from phenotypic differences, have been identified as relevant factors.

This study provides deeper insights into the HRQoL of children and adolescents with HED based on qualitative interviews with both affected individuals and their parents, which captured a broad range of subjective experiences and unmet needs. It led to the development of a condition-specific PROM that should enable a more systematic consideration of these perspectives both in clinical practice and research.