On Wednesday January 5, 2011, ABC's “Breaking News” of the day was yet another piece in the long debate about whether vaccines such as those protecting us from measles, mumps, and rubella might cause autism and/or autism-related gastrointestinal problems.
Early that evening, I was interviewed by Jim Dolan of Channel 7 News, who asked me the all-too-familiar question, “How has the news about vaccination fears affected your patients?” This is a daily question for me in my pediatric neurology practice, and I am sure an even more frequent concern of parents in their quest for information from their pediatricians.
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The study that originally gained so much notice was published in The Lancet in 1998 by the British physician Dr. Andrew Wakefield. However, The Lancet later retracted the published article due to concerns about inaccuracies. Eventually many coauthors also rejected the article and its claims. Now the British Medical Journal has published an investigative article and an editorial stating that the original Lancet article was more than misleading, it contained misrepresentations of the medical histories of the children in the study. Claims of dishonesty, misconduct, and now fraud have circulated through the scientific and lay press. By January 13, 2011, a week after the ABC report, more information was revealed in the British Medical Journal, claiming financial gain was a possible motivation for the unsubstantiated research originally published in The Lancet.
When I was interviewed by Jim Dolan, my final comment was that the controversy has diverted attention from the real concern – what is, or are, the cause or causes of autism, whether environmental or genetic? It is a shame that the focus on this misinformation distracted the scientific community from pursuing real opportunities to serve our patients and to search for the truth.
In the ongoing research for autism causes, the newest area of great interest is the discovery of small changes in the DNA of children with autism. Recent studies have shown that about 18-20% of children with autism have small DNA changes called Copy-Number Variations (CNVs). These are alterations of DNA that can be caused by deletions, duplications, inversions, and/or translocations, which jumbles the proper reading of the genetic code contained in the genome (the biological information needed to build and maintain a living organism). Commercial labs are now able to do genetic evaluations for CNVs; however, doing routine tests on all children with autism may be premature. This area of research is rapidly evolving, with better tests being developed every few months.
Understanding the changes in brain function caused by the CNVs associated with autism or similar disorders may help us gain insight into proper diagnosis, and eventually lead us to treatments designed to improve the resultant brain dysfunction. That is my dream and hope for breaking news stories in the future. |