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Updated: May 27, 2025
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Gross motor delays in infants and young boys with Duchenne muscular dystrophy
Linda P Lowes1,2, Natalie F Reash1, Megan A Iammarino1
1Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.
Insights
Newborn screening for Duchenne muscular dystrophy (DMD) will increase diagnoses. Infants with DMD show universal gross motor delays from early infancy, which persist over time.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Duchenne muscular dystrophy (DMD) is an X-linked neurodegenerative disorder.
- Universal newborn screening for DMD is being implemented in the US.
- Limited data exists on early gross motor skills in infants with DMD.
Purpose of the Study:
- To describe the early gross motor skill acquisition in boys diagnosed with DMD.
- To establish a baseline for early motor development in this population.
Main Methods:
- Evaluated 90 boys with DMD (age 2 months - 5 years 10 months) from 2016-2024.
- Utilized Bayley Scales of Infant & Toddler Development, Third Edition (Bayley-III) during standard care visits.
- Conducted 129 assessments, including longitudinal follow-ups for 47 boys.
Main Results:
- 94% of boys with DMD exhibited gross motor skill delays compared to normative data.
- No patients reached the ceiling of the Bayley-III, even when older than the test's intended age range.
- Delays were observed across the entire age span studied.
Conclusions:
- Gross motor delays are nearly universal in infants and toddlers with DMD.
- These motor skill deficits do not appear to diminish over time in early childhood.
- Early identification and intervention are crucial for managing DMD.
Background:
Duchenne muscular dystrophy (DMD), an X-linked progressive neurodegenerative disorder, is being added to required universal screening programs for newborns in the United States. It is estimated that this will result in around 880 patients presenting at clinics in infancy. Very little is known about the early gross motor abilities in infants and young boys with DMD.
Objective:
Describe the early gross motor skill acquisition in boys in our clinic with DMD.
Methods:
Between the years 2016 and 2024, 90 boys with DMD under the age of 6 years (2 months - 5 years 10 months at their first visit) were evaluated as part of their standard of care during regularly scheduled clinic visits using the using the Bayley Scales of Infant & Toddler Development, Third Edition (Bayley-III). Forty-seven boys were seen in clinic longitudinally with two to six follow up visits for a total of 129 assessments.
Results:
Ninety four percent of the boys with DMD seen in our clinic demonstrated delays in gross motor skills across the age span when compared with normative controls. None of the boys reached a ceiling on the Bayley-III despite being older than the intended age range of the test.
Conclusions:
Our clinic data showed an almost universal gross motor delay in infants and toddlers that did not diminish over time.
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