Autism & Asperger's Syndrome Expert Forum
autism, galactosemia and Down syndrome
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Questions in the Autism & Asperger's Syndrome forum are answered by researchers at the New England Center for Children. Topics covered include Attention Deficit Hyperactivity Disorder (ADHD), Antisocial Personality Disorder, Asperger Syndrome, Autism, blindness, bullying, clinical depression, deafness, dyslexia, mental retardation, and social alienation.

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autism, galactosemia and Down syndrome

My son was born with Down syndrome and at 7 months was diagnosed with cataracts in both eyes, the right cataract requiring removal at 11 months.  He has been diagnosed with PDD/NOS by two clinicians and he has also had an obstructive ulcer.  I just recently became aware of the association of galactosemia and cataracts.  Previously I had assumed that the cataracts were due to Down syndrome.  But now I am wondering what the best test would be to determine whether my son might have a form of galactasemia.  My husband also has strong traits of Aspergers and my husband's brother had had a diagnosis of schizophrenia.  (now deceased)
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There are blood and urine tests for galactosemia. If you have concerns, definitely bring them up with your pediatrician.
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Jason C Bourret, Ph.D., BCBA-DBlank
The New England Center for Children
Southborough, MA
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