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RESEARCH

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.

+ Read more: tinyurl.com/5mzhz7