Open AccessUse of the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance
Author(s) -
Tina Duong,
Gale Harding,
Sally Mannix,
Cristina Abel,
Dawn Phillips,
Lindsay Alfano,
Carsten G. Bönnemann,
C. Lilien,
Linda Lowes,
Laurent Servais,
Birgit Warken-Madelung,
Susie Nieto Bergman,
Emma James,
Mojtaba Noursalehi,
Suyash Prasad,
Salvador Rico,
Deborah A. Bilder
Publication year - 2021
Publication title -
journal of neuromuscular diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.366
H-Index - 23
eISSN - 2214-3602
pISSN - 2214-3599
DOI - 10.3233/jnd-200479
Subject(s) - medicine , construct validity , content validity , population , pediatrics , psychomotor learning , observational study , physical therapy , psychometrics , clinical psychology , psychiatry , cognition , environmental health
X-linked myotubular myopathy (XLMTM) is a life-threatening, congenital myopathy characterized by extreme hypotonia, weakness, delayed motor milestones, and respiratory failure, often resulting in pediatric mortality. This study evaluated the content validity and psychometric performance of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders as a measure of neuromuscular functioning in children with X-linked myotubular myopathy. This study was conducted in two phases. Phase I assessed the content validity of the measure for use in an XLMTM pediatric population through: literature review, clinical expert interviews, caregiver interviews, and a modified-Delphi panel among clinicians. Phase II assessed psychometric performance based on the INCEPTUS observational clinical study and the ASPIRO interventional gene therapy study, including tests of reliability (internal consistency, test-retest, and interrater), validity (construct and criterion), and responsiveness based on observational and interventional clinical trial data analyses. Data established construct validity and reliability of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders among XLMTM patients before administration of resamirigene bilparvovec, and sensitivity to study drug administration as evidenced by the significant post-administration response in ASPIRO. Findings support the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders as an appropriate neuromuscular functioning assessment in a pediatric X-linked myotubular myopathy patient population.