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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
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Newborn screening for neurodevelopmental diseases: Are we there yet?
Wendy K Chung1, Jonathan S Berg2, Jeffrey R Botkin3
1Department of Pediatrics and Medicine, Columbia University, New York, New York, USA.
Summary
Newborn screening could expand to include genetic neurodevelopmental disorders (NDD). Pilot studies are needed to assess screening feasibility, parental consent, and the impact of early diagnosis for NDDs.
Area of Science:
- Genetics
- Public Health
- Pediatrics
Background:
- Newborn screening (NBS) in the US identifies treatable conditions in infants.
- Advances in DNA sequencing offer opportunities to expand NBS for genetic disorders.
- Neurodevelopmental disorders (NDDs) are challenging to screen at birth due to limited early treatments.
Purpose of the Study:
- To explore the potential of integrating genetic screening for NDDs into NBS.
- To assess the feasibility and impact of early NDD diagnosis through pilot studies.
- To examine the technical, ethical, and policy implications of genetic NBS for NDDs.
Main Methods:
- Review of recent advances in NDD treatments.
- Framework development for pilot genetic screening studies.
- Analysis of technical, practical, ethical, and policy considerations.
Main Results:
- The study outlines a framework for pilot studies on genetic screening for NDDs.
- Identifies key challenges including treatment efficacy and parental consent.
- Highlights the need for policy and health system adaptation.
Conclusions:
- Integrating genetic screening for NDDs into NBS requires careful planning and research.
- Pilot studies are crucial to evaluate the effectiveness and acceptability of such screening.
- Early diagnosis and intervention hold promise for improving outcomes in NDDs.
