Reliability and validity of the FSHD-composite outcome measure in childhood facioscapulohumeral dystrophy

K de Valle; F Dobson; I Woodcock; K Carroll; M M Ryan; C Heatwole; K Eichinger; J L McGinley

doi:10.1016/j.nmd.2021.05.011

Reliability and validity of the FSHD-composite outcome measure in childhood facioscapulohumeral dystrophy

Neuromuscul Disord. 2021 Aug;31(8):706-715. doi: 10.1016/j.nmd.2021.05.011. Epub 2021 Jun 1.

Authors

K de Valle¹, F Dobson², I Woodcock³, K Carroll⁴, M M Ryan³, C Heatwole⁵, K Eichinger⁶, J L McGinley²

Affiliations

¹ Department of Neurology, The Royal Children's Hospital, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Department of Physiotherapy, The University of Melbourne, Australia. Electronic address: katy.devalle@rch.org.au.
² Department of Physiotherapy, The University of Melbourne, Australia.
³ Department of Neurology, The Royal Children's Hospital, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Australia.
⁴ Department of Neurology, The Royal Children's Hospital, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia.
⁵ Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA; Center for Health and Technology, Outcomes Division, University of Rochester Medical Center, Rochester, NY, USA.
⁶ Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.

PMID: 34210539
DOI: 10.1016/j.nmd.2021.05.011

Abstract

This study aims to investigate intra-rater reliability and construct validity of the Facioscapulohumeral Dystrophy Composite Outcome Measure (FSHD-COM), in childhood FSHD. Participants included eighteen children with FSHD, and matched healthy controls. Reliability data were collected from 15 participants with FSHD over two testing sessions. Validity data were collected from all participants. Participants with FSHD completed; the FSHD-COM (and modified pediatric version), Motor Function Measure-32 (MFM-32), FSHD Severity Scales, Performance of the Upper Limb 2.0, Pediatric Quality of Life™ Neuromuscular Module and pediatric FSHD Health-Index Questionnaire. Both versions of the FSHD-COM showed excellent intra-rater reliability (ICC_1,2 > 0.99, lower 95%CI > 0.98) with a Minimal Detectable Change (MDC95%) of ≤14.5%. The FSHD-COM had robust and widespread correlations with other related outcome measures. The FSHD-COM versions and 6 min walk test effectively discriminated between children with and without FSHD; the MFM-32 and 10 m walk/run test did not. Ceiling effects were not observed on either version of the FSHD-COM. Reliability and validity findings in this childhood FSHD study concord with estimates in adults. Both versions of the FSHD-COM were effective in discriminating disease in children with mild FSHD symptoms. The FSHD-COM has the potential to be a useful measure of function across the life span.

Keywords: Facioscapulohumeral dystrophy (FSHD); Measurement properties; Outcome measure; Pediatric.

Publication types

Research Support, Non-U.S. Gov't
Validation Study

MeSH terms

Adolescent
Case-Control Studies
Child
Female
Humans
Male
Muscular Dystrophy, Facioscapulohumeral / diagnosis*
Outcome Assessment, Health Care
Quality of Life
Reproducibility of Results
Surveys and Questionnaires
Walk Test