Dr. Molly’s Weblog

Molly O’Shea starts a revolution in pediatric care

Autism and mitochondrial disorders? June 28, 2008

Filed under: autism,Health,vaccines — Dr Molly OShea @ 8:21 am

Another very good article appeared in the New York Times today about autism http://www.nytimes.com/2008/06/28/health/28vaccine.html?ref=health.  This article explored the relationship between a very rare set of genetic disorders, vaccination, and autism.  If you remember the noteworthy Hannah Poling case that was recently decided in the parents’ favor in which the parents asserted that their daughter’s autism was caused by her vaccines, the issue of mitochondrial disorders first got lay press attention.  Hannah Poling has a rare genetic condition that causes the energy producing parts of her cells (the mitochondria) to malfunction and the result is a condition that has all the features of autism.  A special committee is convening to consider how to best go forward with research to better understand this association since the vast majority of kids with mitochondrial disorders tolerate their vaccines with no problems.  Actually, the article mentions that most children with these disorders are identified after a routine viral illness like a cold that triggers the symptoms. 

The mitochondria, because they are the energy producers in all cells and are made up of RNA, are susceptible to mutation and as a result can cause problems even with no family history of a mitochondrial disorder.  The way these disorders are diagnosed is with a muscle biopsy and examination and so testing routinely for them is not done unless there are symptoms.  The typical symptoms include muscle weakness (hypotonia), delays in many areas of development, seizures and eye problems.  The milder kids may have a predominance of language and/or cognitive delays that look a lot like autism.  The good news is that most kids with these disorders tolerate vaccines just fine and it really is the one in a million children with mitochondrial conditions that will have an adverse effect from vaccines. 

I don’t bring this up to cause you to panic and wonder if your child has a mitochondrial disorder, or to encourage my families with autistic children to have muscle biopsies done (there is no treatment for these disorders) but rather to show that research and interest continues.  There are some people who believe that the medical establishment is interested in quashing any data that implicates vaccines in causing any adverse outcomes and that simply is not the case.  What the panel will do is discuss the cases at hand and design studies to explore the issue further and determine the breadth and depth of the association.  By studying the association, we can know more about what role, if any, vaccines played in the appearance of autism in these children and if a relationship between the two exists, discern what, if any, warning signs can be found to adjust vaccine choices for these children.

I am glad to be in a profession that will question and re-question things, that will not just lay a subject to rest when certain things have been laid to rest.  Autism is a life-long and at times severely disabling condition and until we can determine the cause(s), every possible link needs to be explored.

Molly O’Shea, MD  Birmingham Pediatrics + Wellness Center



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