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Related Concept Videos

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Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
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Related Experiment Video

Updated: Jul 6, 2025

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
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ScreenPlus: A comprehensive, multi-disorder newborn screening program.

Nicole R Kelly1, Joseph J Orsini2, Aaron J Goldenberg3

  • 1Department of Pediatrics, Albert Einstein College of Medicine and Children's Hospital at Montefiore, Bronx, NY 10467, USA.

Molecular Genetics and Metabolism Reports
|January 4, 2024
PubMed
Summary
This summary is machine-generated.

ScreenPlus is a pilot newborn screening (NBS) program in NYC enrolling over 100,000 infants for 14 rare genetic disorders. This study evaluates screening accuracy, feasibility, and ethical considerations for NBS expansion.

Keywords:
ELSIEthicsExpanded conditionsNewborn screeningPilot studiesResearch

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Area of Science:

  • Medical Genetics
  • Public Health
  • Bioethics

Background:

  • Novel therapies necessitate early detection of rare genetic disorders through newborn screening (NBS).
  • Pilot NBS studies are crucial for assessing screening feasibility, accuracy, disease incidence, and ethical, legal, and social implications (ELSI).

Purpose of the Study:

  • To evaluate a consented pilot NBS program, ScreenPlus, enrolling over 100,000 infants in New York City.
  • To assess an analyte-based, multi-tiered screening platform for enhanced accuracy in detecting 14 rare genetic disorders.
  • To gather parental and stakeholder opinions on ELSI topics related to NBS expansion.

Main Methods:

  • ScreenPlus utilizes a consented, multi-tiered screening platform for 14 disorders in over 100,000 infants.
  • Abnormal results trigger confirmatory testing, management, and longitudinal outcome data collection.
  • Parental consent is obtained actively and passively, with translated materials for diverse populations.
  • Online surveys capture parental opinions on NBS policy, blood spot retention, and disorder inclusion.

Main Results:

  • The ScreenPlus program is designed to enroll over 100,000 infants, providing data on screening feasibility and accuracy.
  • A multi-sponsored, stakeholder-based funding model supports the pilot program.
  • The study will yield critical data on NBS for a broad panel of disorders and inform ethically sensitive decision-making.

Conclusions:

  • ScreenPlus serves as a model for multi-sponsored pilot NBS programs.
  • The program will generate essential data for NBS expansion, considering both technical and ethical aspects.
  • Findings will guide policy development for rare genetic disorder screening in newborns.