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Published on: January 12, 2019
Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal
Jennifer M Kwon1, Hoda Z Abdel-Hamid2, Samiah A Al-Zaidy3
1Departments of Neurology and Pediatrics, University of Rochester Medical Center, Rochester, New York.
Insights
New developments in Duchenne muscular dystrophy (DMD) diagnosis and treatment support newborn screening (NBS). This study outlines clinical guidance for consistent care of newborns identified through DMD-NBS.
Area of Science:
- Medical Genetics
- Neurology
- Public Health
Background:
- Advancements in Duchenne muscular dystrophy (DMD) diagnosis and treatment have spurred interest in newborn screening (NBS) in the US.
- Consistent clinical guidance is needed for specialty care clinics managing infants identified presymptomatically via DMD NBS.
Purpose of the Study:
- To develop clinical guidance for the consistent care of newborns identified through DMD NBS.
- To create educational materials for parents and primary care providers regarding DMD NBS follow-up.
Main Methods:
- Systematic literature review on patient-centered clinical follow-up after NBS.
- Analysis of educational materials from public health and advocacy organizations.
- Incorporation of expert group discussion and clinical experience.
Main Results:
- Development of materials for initial parent and primary care provider education.
- Creation of templates for subspecialist encounters to ensure standardized care.
- Establishment of a basis for ongoing quality improvement initiatives in DMD NBS follow-up.
Conclusions:
- Standardized clinical guidance and educational materials are essential for effective DMD NBS implementation.
- These resources can facilitate consistent care across different specialty centers.
- The developed materials support quality improvement efforts for managing infants identified via DMD NBS.
Abstract:
New developments in the rapid diagnosis and treatment of boys with Duchenne muscular dystrophy (DMD) have led to growing enthusiasm for instituting DMD newborn screening (NBS) in the United States. Our group has been interested in developing clinical guidance to be implemented consistently in specialty care clinics charged with the care of presymptomatically identified newborns referred after DMD-NBS. We reviewed the existing literature covering patient-centered clinical follow-up after NBS, educational material from public health and advocacy sites, and federal recommendations on effective NBS follow-up. We discussed the review as a group and added our own experience to develop materials suitable for initial parent and primary care provider education. These materials and a series of templates for subspecialist encounters could be used to provide consistent care across centers and serve as the basis for ongoing quality improvement. Muscle Nerve 54: 186-191, 2016.
