J Inherit Metab Dis. 2026 May;49(3):e70179. doi: 10.1002/jimd.70179.
ABSTRACT
Caregiver-reported outcome measures (CROMs) complement clinical assessments of neurodevelopmental functions (NDF) in pediatric rare disease trials. This scoping review summarizes use of CROMs of NDF across bodily function, activity, and participation domains of the International Classification of Functioning, Disability, and Health (ICF) model in pediatric lysosomal storage disorders (LSDs), characterizes assessed neurodevelopmental domains, and outlines considerations for CROM selection within a comprehensive functional assessment strategy. We applied JBI methodology and adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR). Primary articles reporting CROM of NDF use in children with LSDs ≤ 12 years old were identified. Study characteristics, design, and CROMs utilized were extracted. CROMs were classified as condition-general or disease-specific. CROM content was mapped to neurodevelopmental domains (activities of daily living [ADL], cognition, communication, physical, social-emotional function). Ninety-eight articles published in the last 10 years reported on 38 distinct CROMs of NDF across > 20 LSDs. Nearly all studies (93%) used ≥ 1 condition-general CROM of NDF, most commonly the Vineland Adaptive Behavioral Scales or the Pediatric Quality of Life Inventory. Eleven disease-specific CROMs were reported, typically alongside condition-general measures. Physical, ADL, and social-emotional domains were indexed most consistently. CROMs were endpoints in 32 LSD clinical trials. Findings illustrate the variety and common trends of CROMs of NDF used in pediatric LSD studies. This review informs selection of complementary caregiver-reported endpoints in LSD trials based on a well-defined, clinically meaningful construct; alignment with other endpoints and expert consensus; and operational practicality.
PMID:41944086 | DOI:10.1002/jimd.70179
