Autism & Asperger's Syndrome Expert Forum
any connection between developmental disorders & duarte galactosemi...
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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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any connection between developmental disorders & duarte galactosemia?

My grandson is the 4 1/2 yr old I recently asked for help & information for..I didn't mention he tested positive for Duarte Galactosemia as a newborn & could not have any dairy products and was on a very strict diet until he was a year old.  He then was then put on whole milk for 48 hours & retested for his tolerance for dairy products & was ok.  He has been unrestricted in his diet since then.  Since this is a genetic condition & autism & aspbergers are also thought to be genetic, could there be any connection??  
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I'll start with the question on the Duarte variant of galactosemia.  It is a milder form of galactosemia.  This condition is an inherited disorder that affects how the body processes certain sugars. This condition results in the body not being able to process the sugar galactose, which is found in many foods. Galactose also exists as part of another sugar, lactose, found in all dairy products. Liver dysfunction, cataracts (clouding of the lens of the eye), speech problems, and mental impairment are characteristic of this condition if not treated.

For more information about galactosemia go to the following link:

http://ghr.nlm.nih.gov/condition=galactosemia

Whether there is any connection between autism and this condition, I have not been able to locate any published literature on this topic.  Galactosemia is a pretty rare condition with the Duarte variant occuring in 1 out of every 16,000 births.  Given that it is inherited and can result in or be correlated with mental impairment, this is certainly a valid question.  However, it is certainly the case that if galactosemia is still an issue, treatment is necessary.  Please consult your grandson's pediatrician.

As to your grandson's behavior, there are many indicators that his development may show some signs of autism.  He should be screened by a developmental specialist.  A psychiatrist may not be the most qualified individual to conduct developmental testing.  For more information about developmental screening, I suggest you go to the following link:

http://www.cdc.gov/ncbddd/autism/actearly/
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Jason C Bourret, Ph.D., BCBA-DBlank
The New England Center for Children
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