Patient-Reported Complications, Symptoms, and Experiences of Living With X-Linked Hypophosphatemia Across the Life-Course
| Autor: | Angela Williams, Angela J Rylands, Moira Cheung, Judith Bubbear, Karen Bailey |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
business.industry
Endocrinology Diabetes and Metabolism Coding (therapy) rare disease 030209 endocrinology & metabolism Context (language use) Disease 03 medical and health sciences 0302 clinical medicine Quality of life (healthcare) quality of life 030220 oncology & carcinogenesis Life course approach Medicine Anxiety Thematic analysis medicine.symptom business Research Articles AcademicSubjects/MED00250 cross sectional survey qualitative research Clinical psychology Theme (narrative) |
| Zdroj: | Journal of the Endocrine Society |
| ISSN: | 2472-1972 |
| Popis: | Context X-linked hypophosphatemia (XLH) is a rare, genetic phosphate-wasting disease resulting in bone, muscular, and dental problems, beginning in childhood and increasing in adulthood. Objective This qualitative analysis aimed to explore patient-reported symptoms, complications, and experiences of XLH over the life-course, using data from a large multinational online survey. Methods Responses to 2 open-ended questions from 209 adults and 86 children/adolescents (proxy report) with self-reported XLH were analyzed in 8 age groups. Two researchers independently coded and analyzed the responses, using thematic analysis, with differences settled among a multidisciplinary group. Six themes were identified, with age subgroup analysis conducted on the 3 most common, according to coding frequency. Results Within theme 1, “Clinical Signs and Symptoms of XLH,” “Pain” was a dominant subtheme across the life-course, but “Skeletal Pathology” dominated the responses of children/adolescents. Within theme 2, “Impacts of Clinical Signs and Symptoms,” interference with “Physical Exertion” and “Emotional Wellbeing” (comprising depression/anxiety in adults and lack of self-esteem in children/adolescents) was reported across all ages. For theme 3, “Negative Treatment Experiences,” “Medication” was problematic for children, with adults reporting lack of “Access to Appropriate Treatment.” Three further themes were identified: “Resilience,” “Positive Treatment Experiences,” and “Information Needs.” Conclusion The multiple burdens imposed on people with XLH throughout their lifetime encompassed the physical, emotional, and social, although the most challenging symptoms or complications differed between ages. Burden was further exacerbated by adults’ lack of access to appropriate treatment, illustrating the need for age-appropriate multidisciplinary care. |
| Databáze: | OpenAIRE |
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