Journal of Patient-Reported Outcomes (Jul 2022)
Qualitative research with patients and caregivers of patients with PIK3CA related overgrowth spectrum: content validity of clinical outcome assessments
Abstract
Abstract Background PIK3CA-Related Overgrowth Spectrum (PROS) are rare syndromes caused by a mutation in the PIK3CA gene, including fibroadipose hyperplasia or overgrowth; congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal (CLOVES); megalencephaly-capillary malformation (MCAP or M-CM); fibro-adipose vascular anomaly (FAVA); Klippel-Trenaunay syndrome (KT; also known as, Klippel-Trenaunay-Weber syndrome); capillary, lymphatic, and venous malformations (CLVM); and lymphatic malformation (LM). Characterized by malformations and tissue overgrowth, PROS manifests at birth or in early childhood. Pain and functional limitations associated with these conditions may greatly impact the health-related quality of life (HRQoL) of persons with PROS including physical functioning, work/school, social functioning, and emotional well-being. Results Selected clinical outcome assessments (COAs), identified during a literature review, were tested with adults with PROS, and children with PROS and their caregivers to determine comprehensibility, relevance, and appropriateness for measuring symptom severity and HRQoL. Tested were the Patient Global Impression of Symptom Severity (PGI-S), Brief Pain Inventory (BPI), Wong-Baker FACES, Patient-Reported Outcomes Measurement Information System (PROMIS) Profile, PROMIS Pediatric Short Form Sleep Disturbance, and PROMIS Dyspnea Severity. Qualitative interviews tested the self-report adult, self-report pediatric, and observer-report COAs with adults with PROS, and children with PROS and their caregivers. Ten adults (≥ 18 years old) with PROS, and 20 children (6–17 years old) with PROS and their caregivers, participated. All reported positive feedback on item relevance. Adults and children over the age of 12 comprehended and responded to self-reported items. Secondary objectives examined the age children could self-report their conditions using pediatric versions and assessed available observer-report versions of the COAs with caregivers. Some participants under the age of 12 had trouble understanding some terminology. Further, adults and children with cognitive impairment associated with MCAP/M-CM sometimes had difficulty with self-report. Caregivers were able to report their child’s symptoms and impacts using observer-report COAs. Participant feedback prompted further consideration of the measurement of pain in this population, including variability of pain over time, location of pain, and type. Conclusions This study provided valuable information from patients about PROS, supporting the content validity of the COAs, with recommended revisions. COAs are easily understood by persons with PROS and caregivers and are appropriate for measuring symptoms and disease-related impacts across diverse PROS syndromes in clinical trials.
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