Short developmental milestone risk assessment tool to identify Duchenne muscular dystrophy in primary care

Paula van Dommelen; Oisín van Dijk; Jeroen A de Wilde; Paul H Verkerk

doi:10.1186/s13023-024-03208-8

Short developmental milestone risk assessment tool to identify Duchenne muscular dystrophy in primary care

Orphanet J Rare Dis. 2024 May 10;19(1):192. doi: 10.1186/s13023-024-03208-8.

Authors

Paula van Dommelen¹, Oisín van Dijk², Jeroen A de Wilde², Paul H Verkerk³

Affiliations

¹ Department of Child Health, The Netherlands Organization for Applied Scientific Research TNO, Leiden, The Netherlands. Paula.vanDommelen@tno.nl.
² Department of Public Health and Primary Care, Leiden University Medical Center, Leiden, The Netherlands.
³ Department of Child Health, The Netherlands Organization for Applied Scientific Research TNO, Leiden, The Netherlands.

Abstract

Background: In patients without a family history, Duchenne muscular dystrophy (DMD) is typically diagnosed at around 4-5 years of age. It is important to diagnose DMD during infancy or toddler stage in order to have timely access to treatment, opportunities for reproductive options, prevention of potential fatal reactions to inhaled anesthetics, awareness of a child's abilities needed for good parenting, and opportunities for enrolment in clinical trials.

Method: We aimed to develop a short risk assessment tool based on developmental milestones that may contribute to the early detection of boys with DMD in primary care. 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 and 36 months resulted in a sensitivity of 79% (95CI:67-88%), a specificity of 95.8% (95%CI:95.3-96.2), and a positive predictive value of 1:268 boys. Boys with DMD often had symptoms (e.g. 43% had calf muscle pseudohypertrophy) and were referred to therapy (e.g. 59% for physical therapy) before diagnosis.

Discussion: This tool followed by the examination of other DMD-related symptoms could be used by youth health care professionals during day-to-day health assessments in the general population to flag children who require further action.

Conclusions: The majority of boys (79%) with DMD can be identified between 12 and 36 months of age with this tool. It increases the initial a priori risk of DMD from 1 in 5,000 to approximately 1 in 268 boys. We expect that other neuromuscular disorders and disabilities can also be found with this tool.

Keywords: Child Development; Developmental Delay; Early Childhood Development; Motor skills; Pediatrics; neuromuscular disorder.

Publication types

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

MeSH terms

Case-Control Studies
Child, Preschool
Humans
Infant
Male
Muscular Dystrophy, Duchenne* / diagnosis
Primary Health Care*
Risk Assessment

Grants and funding

NA/Duchenne Parent Project