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Monday, 16 June 2008

New research on the brain in Down syndrome + autism

This news report was published in Ability Magazine, Vol 2008 April/May (the Sandra Lee Issue). The reference to the research paper is given below.

Correlations of Autistic Behaviors Shown in Children with Down Syndrome In a continuation of his research looking at children with a co-diagnosis of both autism spectrum disorder (ASD) and other well-known genetic disorders, Dr. Walter E. Kaufmann and colleagues recently published a study that examined the difference in brain structure between children with either Down syndrome alone and children with both Down syndrome and ASD. Dr. Kaufmann and his research team at the Center for Genetic Disorders of Cognition and Behavior (GCB Center) at the Kennedy Krieger Institute believe this will provide more clues to the cause of autism, and lead to better diagnosis and care of children with both Down syndrome and ASD.

The study, which appears in the online journal NeuroReport, used anatomic MRIs to compare the brain scans of children with Down syndrome to children with both Down syndrome and autism, as well as a control group of typically developing children. The study found that the brains of children with a co-diagnosis had significantly more white matter in the brainstem and cerebellum when compared to children with Down syndrome alone. The data also showed that children with both disorders exhibited an accelerated brain growth between the ages of two and five years-old. The volume of white matter in the children with a co-diagnosis tended to decrease slightly with age, but the volumes of white matter remained relatively constant in the group with Down syndrome alone.

The study supports the theory that the underlying cause of autism lies in the cerebellum, particularly the enlargement of the cerebellum due to increased white matter. The findings also suggest that the underlying mechanisms of ASD in Down syndrome may be shared, at least in part, with those in autism alone.

The early pattern of accelerated brain growth in childhood with Down syndrome and a co-diagnosis of ASD resembles the pattern of head and brain growth typically observed in children with autism alone and differs from children with Down syndrome alone. These differences make it important for researchers conducting brain imaging studies on Down syndrome to carefully evaluate the presence of ASD, as autism in Down syndrome may often go undiagnosed.

Perhaps most importantly, the increased white matter in individuals with Down syndrome and a co-diagnosis of autism represents a distinguishing feature that is associated with abnormal behaviors which are typically seen in children with either disorder, namely repetitive motor movements known as stereotypies.

Further research on autism in Down syndrome as well as autism in other conditions may help clarify the causes and functional consequences of autism in the general population.
accessed 14/06/2008

Carter, John, George T. Capone, and Walter E. Kaufmann, Neuroanatomic correlates of autism and stereotypy in children with Down syndrome, Clinical Neuroscience and Neuropathology, Vol 19 No 6 16 April 2008, pp 653 - 656

Click here to read the abstract of the research report, and to purchase a full text copy.

Click here for a previous post an information about Down syndrome+ autism for parents and professionals


Anonymous said...

Fancy that researchers with MRI's have found what I have known for 35 years as mother/carer/educator/everything for my son with down sydrome....that down syndrome people often have some autistic spectrum disorders. Well, well.
What about repetitive tapping with anything available such as coathanger when listening to tape or DVD music? What about continual refusing anything which amounts to change...starting in baby days, my son refused to try solid food. Fancy that...also had a narrow gut tube I guess. Also felt fearful due to gagging. Also had developmental delay, quite severe but repeated attention to educations, love and persistence means he's now classified as high achieving...ok in the moderate IQ range...but gee that makes it oooh so difficult to get support from the powers that be.
Lovely that researchers get cudos and pay for their work.
What do mother carers get but heartache?

Justbelieve said...

I thank God for the research efforts of all those striving to advance the understanding and treatment of those with Down Syndrome. My husband and I are the primary caretakers of my 33 year old brother Brian who has Down Syndrome. Yes, it is sometimes frustrating trying to understand some of Brian's idiosyncracies, but there has been far more reward than frustration. Honestly, I desire to be more like Brian, than I want him to be like me. Yes, he has some repetive actions I don't understand; he can't take care of himself without full assistance; and he can't read with understanding and lacks discernment, etc., however, he is kind, patient, and loving towards everyone. Every day he sincerely asks us how we are doing and gives us hugs and tell us he loves us and how good we look! He cleans his roome without being asked, never complains or worry about anything--He simply trusts my husband, his other siblings and me to take care of him just as he trusted our parents before they passed. I don't know if research will ever lead to the discovery of a treatment that will help prevent and/or reverse the negative effects of Down Syndrome, but I do know that I am thankful to God for all--whether parent, doctor, researcher, etc.; who are trying to make a difference. Who cares about who gets the credit as long as those who are in need of help gets it. Let's work together not against one another.