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Updated: May 19, 2026
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Clinic-based infant screening for duchenne muscular dystrophy: a feasibility study
Insights
Duchenne muscular dystrophy (DMD) screening is feasible in pediatric offices. Most parents and providers support voluntary DMD screening, indicating its potential as a public health service.
Area of Science:
- Pediatric Health
- Genetics
- Public Health Screening
Background:
- Duchenne muscular dystrophy (DMD) is a severe genetic disorder affecting young males.
- Current screening practices primarily focus on newborns, with limited research on broader pediatric screening.
- Assessing parental and provider perspectives is crucial for implementing new screening programs.
Purpose of the Study:
- Evaluate the desirability and feasibility of Duchenne muscular dystrophy (DMD) screening in a pediatric setting.
- Assess the effectiveness of the informed consent process for DMD screening.
- Gauge parental and healthcare provider attitudes towards DMD screening.
Main Methods:
- Conducted voluntary Duchenne muscular dystrophy (DMD) screening for male infants during 12-month well-child visits.
- Utilized post-screening questionnaires for parents and providers to gather feedback on experiences and attitudes.
- Screened 264 male infants in a participating pediatric clinic.
Main Results:
- 78% of parents supported voluntary DMD screening, and 91% of providers favored screening.
- Approximately 75% of parents demonstrated adequate knowledge of DMD screening post-consent.
- The study confirmed the feasibility of conducting DMD screening within a pediatric office environment.
Conclusions:
- Duchenne muscular dystrophy (DMD) screening is a viable option within pediatric offices, particularly within research contexts.
- Parental and provider support suggests potential for optional public health screening for DMD.
- Future implementation could extend beyond newborn screening to routine pediatric care.
Abstract:
Purpose. The purpose of this study was to assess the desirability of Duchenne muscular dystrophy (DMD) screening, the effectiveness of the consent process, and the feasibility of conducting DMD screening in a pediatric office. Methods. Infant males who attended a 12-month routine well-child visit at a participating pediatric clinic were screened for DMD. Parents and providers completed post-screening questionnaires to assess their experiences with and attitudes toward screening. Results. A total of 264 male infants were screened for DMD. Approximately 78% of parents indicated support of voluntary DMD screening and 91% of providers were in favor of screening for DMD. About 75% of parents correctly answered three of five questions testing their knowledge of DMD screening. Conclusion. DMD screening is feasible in a pediatric office when conducted as part of a research study. Infant screening for DMD eventually could be offered in pediatric health care provider offices as an optional public health service outside of newborn screening.
