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J Pediatr. 2010 Mar;156(3):420-6. doi: 10.1016/j.jpeds.2009.09.068. Epub 2009 Nov 14.

Prevalence of developmental disabilities and receipt of special education services among children with an inborn error of metabolism.

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  • 1Association for University Centers on Disabilities, Silver Spring, MD, USA.



To examine the presence of developmental disabilities and receipt of special education services in children with an inborn error of metabolism.


The study population was children born from 1988 through 2001 in whom a metabolic disorder was diagnosed after identification by newborn screening (n = 97) or after clinical identification (n = 34). These children were linked to the Metropolitan Atlanta Development Disability Surveillance Program (MADDSP) and Special Education Database of Metropolitan Atlanta (SEDMA) to determine developmental outcomes at 8 years of age and 3 through 10 years of age, respectively. Medical and educational records were examined to consider factors contributing to developmental outcomes.


Of 97 children with a metabolic disorder identified with newborn screening, 12 (12.4%) were identified by SEDMA as receiving special education services and 2 (2.7%) were identified by MADDSP as having a developmental disability. Of the 34 children with a clinically identified metabolic disorder, 8 (23.5%) were identified with SEDMA, and 5 (17.2%) were identified with a MADDSP developmental disability.


Early identification and treatment have been successful in limiting the impact of severe developmental disabilities. Continued surveillance and research are needed to monitor less severe developmental outcomes.

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