ArticleOrphanet journal of rare diseases2026
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.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.
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1 citing paper in PubMed, 1 synthesis or guideline pooled it.
- Self-reported perspective in rare genetic diseases: a systematic review of patient-reported outcome measures classified using the international classification of functioning, disability and health framework.Journal of patient-reported outcomes · 2026Pooled it
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5 authors.
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Abstract
backgroundHypohidrotic 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.
methodsFocus (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.
resultsEleven 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.
conclusionsThis 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.
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