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Screening for brain-related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of
Ruben Miranda1, Pien M M Weerkamp2,3,4, Anna Kolesnik5
1Department of Psychobiology and Methodology in Behavioral Sciences, Universidad Complutense de Madrid, Madrid, Spain.
Aim:
To develop a brief, reliable, and valid screening tool and to provide normative data for the identification of individuals with Duchenne muscular dystrophy (DMD) at risk of brain-related comorbidities.
Method:
An 18-item proxy/self-report screening tool covering nine comorbidity areas was developed on the basis of existing literature and expert consensus, and translated into 11 languages. In this cross-sectional observational study, data from 835 individuals with DMD (aged 5-42 years) were used to assess reliability, construct validity, and diagnostic accuracy. A subsample of 90 participants completed cognitive and behavioural assessments for concurrent validity analyses.
Results:
The Brain Involvement iN Dystrophinopathies (BIND) screener showed excellent internal consistency (α = 0.89) and a factor structure aligned with theoretical domains. Age-related patterns were observed across domains. The total score (Duchenne Brain Comorbidity Score) correlated with clinical and cognitive markers in the validation subsample. Receiver operating characteristic analysis in the full sample yielded an area under the curve of 0.78, with a cut-off score of 20/72 providing optimal sensitivity (71.6%) and specificity (72.5%) for identifying parent- or self-reported neurodevelopmental conditions previously diagnosed by professionals.
Interpretation:
The BIND screener is a brief, psychometrically robust tool that facilitates early identification of brain-related comorbidities in DMD and may be applied in both clinical practice and research.
