Posted on | April 26, 2012 | No Comments
We live in an age of advancing health consumerism. What began as a declaration of empowerment, has matured through direct and indirect education of the consumer public, and has been reinforced by active involvement, engagement and activism.
This growth and evolution has been spotty (more evident in those who are educated, insured, and wealthy – and less so in those who are not), as well as selective by condition. Breast cancer for example has been the subject of very prominent promotion and support, expanding resources for research and treatment, and leading to decreases in variability of diagnosis and treatment and increases in survival. This heavy visibility and explosion of pink is not without controversy (why this disease versus others and what’s with the politics of the Susan G. Komen Foundation?)
On the whole, however, publicity delivers results when it comes to a disease – as well as misinformation. A perfect example is autism. Latest US estimates are that 1 in 88 is affected by one or another of the autism spectrum disorders.(1) The numbers have increased dramatically in the past 30 years, mostly due to greater diagnostic acumen and vigilence. The narratives are profound and deeply troubling – a child developing normally suddenly and inexplicably reverses course. It’s more common in males than females by a 4 to 1 margin. And increasingly, genetics are felt to be the culprit, but we’re still fighting to correct tremendous damage that resulted when a now discredited researcher published a supposed link between childhood vaccines and autism.(2,3)
Messy business, as with the recent breast cancer scuffle. But, as with breast, on the whole, publicity delivers dollars, and dollars equal more focused research and breakthroughs. For example, just this week we have positive news on the autism front. The basic science insight has been profound. It had been thought that the defect (whatever it was) was hard-wired. It now seems clear this is not the case. Secondly, the conditon or conditions was not felt to be amenable to medical treatment. But this week’s research results in experimental animal models demonstrate that GRN-529, an experimental agent targeted at the brain chemical glutamate, tied to socialization and behavior, reversed repetitive and anti-social behavior in these animals.(4)
Lead author, Jacqueline Crawley of the National Institute of Mental Health noted, “Many cases of autism are caused by mutations in genes that control an ongoing process — the formation and maturation of synapses, the connections between neurons. If defects in these connections are not hard-wired, the core symptoms of autism may be treatable with medications.”(5) It seems then that the neurodevelopmental defects present intra-uterine are neither permanent nor hard wired. Rather, if left unaddressed, they destroy human potential. But if better understood and treated, there is significant reason for hope among the many, many families touched by this devastating problem. There activism is beginning to pay off. And the basic science learnings, in terms of the plasticity of the brain and moldability of ongoing synaptic connections could have a profound impact on a wide range of neuodegenerative diseases across the entire lifespan.
For Health Commentary, I’m Mike Magee
1. CDC: Autism Spectrum Disorders, 2012. http://www.cdc.gov/ncbddd/autism/index.html
2. Freitag CM. The genetics of autistic disorders and its clinical relevance: a review of the literature. Mol Psychiatry. 2007;12(1):2–22. doi:10.1038/sj.mp.4001896. PMID 17033636. http://www.ncbi.nlm.nih.gov/pubmed/17033636
3. Wakefield’s article linking MMR vaccine and autism was fraudulent. BMJ. 2011. 342:c7452. Retrieved April 2 2012. http://www.bmj.com/content/342/bmj.c7452
4. Silverman JL et al.Negative Allosteric Modulation of the mGluR5 Receptor Reduces Repetitive Behaviors and Rescues Social Deficits in Mouse Models of Autism.Sci Transl Med 25 April 2012:Vol. 4, Issue 131, p. 131ra51 http://stm.sciencemag.org/content/4/131/131ra51
5. Fox M. Drug helps treat autism symptoms in mice. National Journal. 4/25/12. http://www.nationaljournal.com/healthcare/drug-helps-treat-autism-symptoms-in-mice-20120425