Duarte Galactosemia and Autism

I am a specialist in Neurodevelopmental Disabilities and I am seeing a patient with Duarte Galactosemia and Autistic Disorder. I ran across a question in this forum from a grandfather who had a grandson with DG and Autism. The simultaneous occurrence of these two uncommon disorders may be due to more than just chance. An article has recently been published (Genet Med. 2009 Dec;11(12):874-9) regarding developmental disorders in DG. Are you aware of any other children with Autism Spectrum Disorders or other developmental problems and DG?

[Jason C Bourret, Ph.D., BCBA-D]

The diagnostic criteria for autism-spectrum disorders are behavioral and those behavioral patterns and deficits can arise from any of a number of underlying causes. Having a mitochondrial disorder like DG may increase the likelihood of receiving an autism diagnosis because the disabilities associated with DG may be sufficient for the individual to also meet the DSM criteria for an autism-spectrum disorder. That being said, it is important to recognize that the cause of the disability is different for someone with autism and DG and someone with autism without DG and only a small percentage of individuals diagnosed with autism also have mitochondrial disorders of this sort.