Related Experiment Video
Updated: Jun 26, 2025
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Short developmental milestone risk assessment tool to identify Duchenne muscular dystrophy in primary care
Paula van Dommelen1, Oisín van Dijk2, Jeroen A de Wilde2
1Department of Child Health, The Netherlands Organization for Applied Scientific Research TNO, Leiden, The Netherlands. Paula.vanDommelen@tno.nl.
Insights
A new risk assessment tool can identify 79% of boys with Duchenne muscular dystrophy (DMD) between 12 and 36 months. This early detection in primary care enables timely treatment and clinical trial enrollment.
Area of Science:
- Pediatrics
- Neurology
- Genetics
Background:
- Duchenne muscular dystrophy (DMD) is typically diagnosed late (4-5 years) in patients without a family history.
- Early diagnosis in infancy/toddlerhood is crucial for timely treatment, reproductive options, and clinical trial access.
Purpose of the Study:
- To develop a concise risk assessment tool for early Duchenne muscular dystrophy (DMD) detection in primary care.
- The tool is based on developmental milestones to identify at-risk boys during infancy and toddlerhood.
Main Methods:
- The 4D-DMD study analyzed data from 76 boys with DMD and 12,414 controls.
- Logistic regression analysis assessed 26 developmental milestones up to 36 months for Duchenne muscular dystrophy (DMD) risk prediction.
Main Results:
- A seven-milestone tool achieved 79% sensitivity and 95.8% specificity for Duchenne muscular dystrophy (DMD) detection between 12-36 months.
- Boys with Duchenne muscular dystrophy (DMD) often presented with symptoms like calf pseudohypertrophy (43%) and physical therapy referrals (59%) before diagnosis.
Conclusions:
- The tool can identify the majority of Duchenne muscular dystrophy (DMD) cases between 12-36 months, increasing detection risk from 1:5000 to 1:268.
- This developmental milestone tool can aid healthcare professionals in flagging children needing further investigation for Duchenne muscular dystrophy (DMD) and other neuromuscular disorders.
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.
Related Concept Videos
01:30Assessment of Airway, Skin Color, and Use of Accessory Muscles
Introduction
The initial evaluation of a patient's respiratory system...
01:21Satellite Stem Cells and Muscular Dystrophy
01:23Assessment of Respiration
Subjective Assessment: Nurses interview the patient to gather information directly during the subjective assessment. It includes questions about the individual's medical history, medications, and symptoms, focusing on past respiratory conditions like...