Monday, December 8, 2008

Landmark Study: Autism Recognized as Medically Treatable

The journey continues. We all know there is no medically proven cure for autism, there is no pill our kids can take, no surgery, no proven protocols. It's the survival of the fittest disease and every family does the best we can from therapeutic interventions, to oxygen chambers to special diets; we are all trying to find an answer for our child or children. We're all waiting for better answers and hoping it will not be too late for our kids. Scientific communities now frequently report on the new and exciting methods of early detection and treatment for the 1-3 kiddo's. This is progress, but there is not so much about how to help the bigger kids and adults. Nicky is ten and I don't hear as much about how to help kids his age.

I am however encouraged by the sheer numbers of folks now concentrating on the problem. Seems to me that each study, no matter what the results checks one more item off the "maybe" list brining us one step closer to a possible answer. I found this today and thought it was well worth posting. Keeping with my usual drill I have sent it to Nicky's doctors asking for translation and thoughts on how and when this information will make a difference for Nicky. I hope they have good news for us.


Landmark Study: Autism Recognized
As Medically Treatable

In April of 2008, the American College of Medical Genetics (ACMG), an AMA- recognized board, issued clinical practice guidelines that clinical geneticists should follow in determining the etiology for those with an autistic spectrum disorder (ASD) diagnosis and in treating patients with this diagnosis. This study, "Autism spectrum disorder-associated biomarkers for case evaluation and management by clinical geneticists" in Expert Review of Molecular Diagnostics,1 confirms that there are now well- established, routine, clinically available, identified biomarkers to help clinical geneticists medically evaluate and treat individuals diagnosed with an ASD and briefly outlines some recognized biomarkers. Depending on the cause of the ASD, these researchers have found that "associated medical risks may be identified, which may lead to screening and potential morbidity prevention in patients and other family members." The non-profit CoMeD, Inc., and, through a grant from the Brenen Hornstein Autism Research & Education (BHARE) Foundation, the non-profit Institute of Chronic Illnesses, Inc. funded this research study.
The important clinical tools identified for medical evaluation and treatment response monitoring included:
• Pophyrin biomarkers – to help determine if mercury toxicity is present, and, when it is found, to monitor changes in mercury-burden during detoxification therapies.
• Trans-Sulfuration biomarkers – to help determine if mercury biochemical susceptibility is present and, when it is found, to monitor patient response during supplementation with nutritional therapies such as methylcobalamin (the methyl form of vitamin B12), folinic acid, and pyroxidine (vitamin B6).
• Oxidative Stress/Inflammation biomarkers – to help determine if there are excessive by-products of metabolic pathways, and, when they are found, to monitor patient progress during supplementation with anti-inflammatory drugs such as Aldactone® (spironolactone).
• Hormonal biomarkers – to help determine if hormonal abnormalities are present and, when they are found, to monitor patient progress during the indicated treatment with hormonal regulation drugs such as Lupron® (leuprolide acetate) and Yaz® (drospirenone/ethynyl estradiol).
• Mitochondrial Dysfunction biomarkers – to help determine if there are disruptions in the energy production pathways, and, when they are found, to monitor patient progress during supplementation with drugs such as Carnitor® (L-carnitine).
• Genetic biomarkers – to help determine if there are genetic causal or susceptibility factors present, and, when they are found, to provide insights into behavior modification to help reduce the impact of such genetic factors.
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  2. Hello friend excellent post about Landmark Study: Autism Recognized as Medically Treatable, My little brother suffers of autism thanks for sharing!!

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