Long-term developmental outcomes of children identified through a newborn screening program with a metabolic or endocrine disorder: a population-based approach.
OBJECTIVE
To conduct surveillance of the developmental status of children who screen positive and are diagnosed with a metabolic or endocrine disorder.


METHODS
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.
Van Naarden Braun
Kim
K
Developmental 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
Yeargin-Allsopp
Marshalyn
M
Schendel
Diana
D
Fernhoff
Paul
P
D003625:Data Collection; D002658:Developmental Disabilities / Q000209:etiology*; D004700:Endocrine System Diseases / Q000150:complications* / Q000151:congenital / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis; D015997:Neonatal Screening