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Updated: Sep 20, 2026
Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Long-term developmental outcomes of children identified through a newborn screening program with a metabolic or
Kim Van Naarden Braun1, Marshalyn Yeargin-Allsopp, Diana Schendel
1Developmental Disabilities Team, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, MS E-86, Atlanta, GA 30333, USA. kbn5@cdc.gov
Insights
Newborn screening for metabolic/endocrine disorders rarely leads to developmental disabilities. However, ongoing surveillance is crucial to monitor long-term outcomes and identify any potential developmental issues in affected children.
Area of Science:
- Pediatric Health
- Developmental Pediatrics
- Endocrinology
Background:
- Metabolic and endocrine disorders detected via newborn screening can impact child development.
- Early identification and intervention are critical for managing these conditions.
- Population-based surveillance is essential to understand long-term developmental trajectories.
Purpose of the Study:
- To monitor the developmental status of children diagnosed with metabolic or endocrine disorders following positive newborn screening.
- To assess the incidence of developmental disabilities in this at-risk population.
- To inform public health strategies for managing children with screened metabolic/endocrine conditions.
Main Methods:
- Linking data from the Metropolitan Atlanta Developmental Disabilities Surveillance Program (MADDSP), Special Education Database of Metropolitan Atlanta (SEDMA), and the State of Georgia Newborn Blood-Spot Screening Program (NBSP).
- Analyzing birth cohorts from 1981-1991 (MADDSP & NBSP) and 1981-1995 (SEDMA & NBSP).
- Estimating the prevalence of developmental disabilities, including mental retardation and speech/language impairments.
Main Results:
- In the MADDSP/NBSP linkage (1981-1991), only 3 out of an estimated 147 infants with screened disorders were identified with mental retardation.
- In the SEDMA/NBSP linkage (1981-1995), 9 out of an estimated 216 children with screened disorders had less severe developmental disabilities, such as speech and language impairments.
- The overall occurrence of developmental disabilities attributable to these specific metabolic/endocrine disorders was low.
Conclusions:
- Children identified through newborn screening for metabolic/endocrine disorders show a low incidence of severe developmental disabilities.
- The study highlights the importance of continued population-based monitoring for long-term developmental outcomes in screened children.
- Ongoing surveillance can help refine management strategies and ensure timely support for children with developmental concerns.
Objective:
To conduct surveillance of the developmental status of children who screen positive and are diagnosed with a metabolic or endocrine disorder.
Study Design:
The Centers for Disease Control and Prevention linked three data sources in Georgia: (1) Metropolitan Atlanta Developmental Disabilities Surveillance Program (MADDSP), (2) Special Education Database of Metropolitan Atlanta (SEDMA), and (3) State of Georgia Newborn Blood-Spot Screening Program (NBSP).
Results:
When MADDSP and NBSP were linked (birth cohorts 1981-1991), of an estimated 147 infants who screened positive for a metabolic or endocrine disorder and were at risk for mental retardation if left untreated, only three children were identified with mental retardation. When SEDMA and NBSP were linked (birth cohorts 1981-1995), of an estimated 216 children who screened positive for a metabolic or endocrine disorder, nine children were identified as having a developmental disability less severe than mental retardation, eg, speech and language impairments.
Conclusions:
Although children found in MADDSP or SEDMA have a low occurrence of developmental disabilities attributable to these metabolic or endocrine disorders, our finding of cases of developmental disabilities of varying severity attributable to a metabolic or endocrine disorder suggests a need for ongoing population-based monitoring of the long-term developmental outcomes of children identified through newborn screening programs.
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