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Genet Med. 2009 Dec;11(12):874-9. doi: 10.1097/GIM.0b013e3181c0c38d.

Long-term speech and language developmental issues among children with Duarte galactosemia.

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Association for University Centers on Disabilities (AUCD, Atlanta, Georgia, USA.



: There is limited information on long-term outcomes among children with Duarte galactosemia and controversy about treatment of this potentially benign condition. This study examined developmental disabilities and issues that required special education services within a population-based sample of children with Duarte galactosemia.


: Children born between 1988 and 2001 who were diagnosed with Duarte galactosemia and resided in the five-county metropolitan Atlanta area at birth and from 3 to 10 years of age were linked to the (1) Metropolitan Atlanta Developmental Disabilities Surveillance Program, an ongoing, population-based surveillance system for selected developmental disabilities and (2) Special Education Database of Metropolitan Atlanta. Special education records were reviewed for children who linked. Clinical genetics records were reviewed to assess laboratory levels at the time of diagnosis and metabolic control during treatment.


: Of the 59 eligible children, none were found to have intellectual disability, cerebral palsy, hearing loss, vision impairment, or an autism spectrum disorder. However, five, 8.5% of 3 to 10 years or 15.2% of eligible 8 years, were identified as having received special education services, four of whom were confirmed with a speech or language disorder, or were receiving services for speech or language or both compared with 4.5% and 5.9% of children without Duarte galactosemia, respectively.


: Despite galactose restriction until 1 year, select developmental issues associated with special education, specifically involving speech and language, have been found among some children with Duarte galactosemia.

[Indexed for MEDLINE]

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