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Updated: Aug 24, 2026
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Developmental progress in Duchenne muscular dystrophy: lessons for earlier detection
Evelyn P Parsons1, Angus J Clarke, Don M Bradley
1School of Nursing and Midwifery Studies and Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK. parsonsep@cf.ac.uk
Insights
Diagnostic delay in Duchenne Muscular Dystrophy (DMD) is complex. Newborn screening alone may not be sufficient, as early symptoms are often non-specific and missed by primary care. Further investigation into effective screening tools is needed.
Area of Science:
- Medical Genetics
- Pediatric Neurology
- Diagnostic Medicine
Background:
- Diagnostic delay in Duchenne Muscular Dystrophy (DMD) remains a significant challenge, impacting patient outcomes.
- Early identification is crucial for timely intervention and management of DMD.
- Current diagnostic pathways often lead to delayed diagnosis, particularly in primary care settings.
Purpose of the Study:
- To evaluate the effectiveness of proposed earlier diagnostic strategies for DMD.
- To analyze the diagnostic pathways and identify factors contributing to delays in clinically diagnosed DMD cases.
- To assess the utility of newborn screening (NBS) in detecting DMD and reducing diagnostic delay.
Main Methods:
- Quantitative and semi-qualitative study design.
- Inclusion of a newborn screening (NBS) cohort and a clinically diagnosed (LCD) group.
- Data collection included developmental milestones, Griffiths assessment, clinic letters, family case studies, and semi-structured interviews.
Main Results:
- Previously proposed earlier diagnosis strategies showed limited effectiveness in identifying cases within the NBS cohort.
- Diagnostic delay is attributed to non-specific initial observations by families, variable symptom presentation, and primary care's limited recognition of early indicators.
- Early locomotor symptoms were sometimes misattributed, leading to incorrect referrals (e.g., orthopedic instead of pediatric).
Conclusions:
- Developing an effective screening tool to reduce DMD diagnostic delay is more complex than anticipated.
- Service providers must critically evaluate whether newborn screening is the sole feasible solution for addressing diagnostic delays.
- Further research is needed to identify comprehensive strategies for earlier DMD detection and diagnosis.
Objective:
To address the issue of diagnostic delay in Duchenne Muscular Dystrophy (DMD) using developmental data from a cohort of affected boys detected by newborn screening and data on the diagnostic pathways of a group of boys diagnosed clinically.
Design:
Quantitative and semi-qualitative.
Setting:
Primary care.
Subjects:
1. Cohort of boys diagnosed by newborn screening (NBS cohort), 2. Group of mothers whose sons were diagnosed clinically (LCD group) Interventions. NBS cohort: (a) Developmental milestones, (b) Griffiths assessment, (c) clinic letters, (d) family case studies. LCD group: semi-structured interview.
Main Outcome Measure:
1. The effectiveness of previously proposed strategies for the earlier clinical diagnosis of DMD. 2. Diagnostic pathways of the LCD group. Factors contributing to diagnostic delay in the LCD group.
Results:
1. Previously proposed strategies for earlier diagnosis would have had limited effectiveness in detecting the NBS cohort. 2. Diagnostic delay continues because: (a) initial observations are usually non-specific and made by the family, (b) age of presentation and presenting symptoms are highly variable, (c) first concerns are usually expressed to the primary care team who are less likely to recognise the early indicators, (d) early locomotor symptoms could suggest an orthopaedic rather than a paediatric referral.
Conclusions:
The identification and implementation of an effective screening tool to reduce diagnostic delay is more complex than previously portrayed. In the light of this evidence service providers need to ask whether newborn screening is the only feasible solution to diagnostic delay.
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