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LANDMARK STUDY: AUTISM RECOGNIZED AS MEDICALLY TREATABLE

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WASHINGTON, DC – 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 " [click here for study] 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:

1. Pophyrin biomarkers – to help determine if mercury toxicity is

present, and, when it is found, to monitor changes in mercury-burden

during detoxification therapies.

2 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).

3 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).

4 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).

5 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).

6 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.

Today, any parent, physician, or healthcare provider can easily engage

the services of a clinical geneticist who is following the ACMG

practice guidelines to help evaluate and treat those diagnosed with an

ASD by contacting ASD Clinics, LLC, a national outreach clinic helping

to provide clinical genetic services through the Genetic Centers of

America. For information about scheduling a consultation, please call

(301) 989-0548.

Current Consultation Center Locations:

West Coast - Genetic Consultants of Washington State (Seattle, WA)

Central – Genetic Consultants of Indiana (Indianapolis, IN)

East Coast – Genetic Consultants of land (Washington, DC)

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