Short development milestone risk assessment tool to identify Duchenne Muscular Dystrophy
de Wilde, J.
van Dommelen, P.
van Dijk, O.
AIMS: An important goal of monitoring developmental milestones is the early identification of a wide range of disorders that affect child development. Duchenne muscular dystrophy (DMD) is generally detected late and therefore treated late, but previous research showed that more DMD boys fail to attain certain milestones than the general population. Aim of this study is to develop a short risk assessment tool based on developmental milestones that may contribute to the early detection of DMD. MATERIALS & METHODS: As part of the case-control 4D-DMD study (Detection by Developmental Delay in Dutch boys with DMD), data on developmental milestones, symptoms and therapies for 76 boys with DMD and 12,414 boys from a control group were extracted from the health records of youth health care services and questionnaires. Multiple imputation, diagnostic validity and pooled backward logistic regression analyses with DMD (yes/no) as the dependent variable and attainment of 26 milestones until 36 months of age (yes/no) as the independent variable were performed. Descriptive statistics on symptoms and therapies were provided. RESULTS: A tool with seven milestones (assessed at specific ages between 12-36 months) resulted in a sensitivity of 79% (95%CI: 67-88%), indicating that most boys with DMD would be detected at or below the age of 36 months using this tool. The specificity was 95.8% (95%CI: 95.3-96.2) and the positive predictive value 1:268 boys. In addition, boys with DMD often had physical symptoms (e.g. 43% had calf muscle pseudohypertrophy) and were often referred to therapy (e.g. 59% for physical therapy) before diagnosis. CONCLUSION: The short risk assessment tool may be helpful in detecting DMD in boys aged 12 to 36 months. In addition, the presence of physical symptoms and medical information, such as referrals, may also contribute to determining the risk of DMD.
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Conventus Credo, Zagreb
21st EUSUHM (European Union for School and University Health and Medicine) Congress School and Adolescent Health Priorities - Rethinking, Redefining, Responding, 29th Sept-2nd Oct 2022, Split, Coratia, 18