PIECING TOGETHER THE PUZZLE OF AUTISM

ONE POSSIBLE PATHOGENESIS LINKS GUT, GENES, AND IMMUNE SYSTEM

To build a solid case, an investigator needs to piece together all of the evidence. Although the cause of autism is still a mystery, researchers are now beginning to snap together what once seemed to be disparate parts of a puzzle.

In a recent issue of Medical Hypotheses, Mark A. Brudnak, Ph.D., N.D., combines several potential mechanisms associated with autism to construct a theory that explains how the condition could develop and progress. Such a comprehensive understanding could lead to more effective treatments in the future.

Childhood vaccinations have been implicated in the onset of autism, while diet has been implicated in its subsequent prognosis, Dr. Brudnak points out. A strong gut-brain connection is also apparent, with poor digestive function often appearing as a hallmark of the disorder.

Dr. Brudnak speculates on the following chain of events. In early childhood, sensitivity to a vaccine, or a reaction to a mycobacterial infection, could disrupt pivotal molecular mechanisms that regulate how specific genes in the body switch "on" or "off" - what's known as genetic expression. This may trigger malfunctioning of the immune and gastrointestinal systems, particularly in gut-associated lymphoid tissue, which Dr. Brudnak cites as "a major contributor to the pathological manifestations of autism."

When this happens, proteins are no longer properly broken down in the digestive tract. Cells in gut tissue die off prematurely, as the gut lining becomes "leaky" and unable to repair itself. Compounds in the diet, like casein and gluten, normally kept at bay, may then permeate into the bloodstream. Their activated by-products, called exorphins, could act directly on the brain to trigger opioid-like effects associated with autistic symptoms.

Such a scenario could explain why restoring healthy gut barrier function in autistic children is a treatment approach that "has met with a degree of success," Dr. Brudnak observes. Enzyme therapy (which improves the gut's ability to break down proteins) and probiotics (supplementation with beneficial gut microbes that help repair the intestinal lining) have both produced positive clinical results in autistic children, he points out.

In the future, it may also be possible to utilize specific nutrients to modulate gene function and structure earlier in the pathogenesis of autism. Galactose and glucosamine are two promising candidates. These and other nutrients, dubbed genomeceuticals, could block aberrant expression of key genes, such as the dipeptidyl peptidase IV gene implicated in autism.

While a combined nutritional-genetic approach offers hope for better prevention and treatment, much still needs to be understood about the systemic effects of a genomeceutical before it can be safely utilized in therapy for autism, Dr. Brudnak cautions.

NOTE: For over a decade, practitioners worldwide have depended on Great Smokies' innovative and noninvasive gastrointestinal assessments for treating their patients. These tests help practitioners identify which patients with autism (as well as with other conditions) are likely to benefit from gut-related clinical interventions.

The Comprehensive Digestive Stool Analysis evaluates the balance of gut microflora and the key dynamics of digestive function, to accurately assess the clinical need and monitor the effectiveness of probiotic and enzyme therapies. For more information about this test, visit http://www.gsdl.com/assessments/cdsa/

The Intestinal Permeability Assessment is a noninvasive urinary assessment that assesses the absorption and elimination of two sugars contained in a challenge drink. This test is necessary to accurately diagnose "leaky" gut, as well as to monitor treatments aimed at restoring intestinal barrier function. Its many applications are described at http://www.gsdl.com/assessments/ip/

RELATED ARTICLES, RESOURCES:

Autism: Linking The Digestive Tract To The Brain http://www.gsdl.com/news/connections/vol10/conn20001108-p.html#story2

DAN! Presentation and Congressional Testimony by Jeff Bradstreet, M.D. http://www.up-to-date.com/atlanta/Bradstreet.htm

Source: Brudnak MA. Application of genomeceuticals to the molecular and immunological aspects of autism. Med Hypotheses 2001;57(2):186-191.

Call 800-522-4762 for more information or send your request for test kits and educational materials to cs@gsdl.com

© 2001 Great Smokies Diagnostic Laboratory

GSDL DEVELOPS AUTISM RESOURCE CENTER ONLINE

This Week's Lab Tidbit

At last weekend's DAN! (Defeat Autism Now!) fall meeting in San Diego, Great Smokies' representatives announced our new Autism Resource Center (ARC) online at http://www.gsdl.com/autism. In the course of several searches, it had become abundantly clear to us that the worldwide web is full of valuable information for parents and practitioners. At the same time, it was evident that people searching on the web could use a clearing house site to help them sift through the approximately 500,000 pages related in some way to the condition (actual results of a recent http://www.google.com/search?q=autism&btnG=Google+Search search). Our goal with ARC is to strive to meet both of those needs.

ARC has been created by Great Smokies Diagnostic Laboratory as a comprehensive library of information and resources dedicated to autism. ARC provides a wealth of resources related to autism that both physicians and parents can use. At ARC, you'll find new and important medical research on autism, links to laboratory protocols and early identification check lists, and ways to contact parent-support organizations.

ARC will help you learn how laboratory testing can help healthcare practitioners treat children with autism more effectively, as well as bring some order out of the online chaos to direct you to the best information available. It will also give you an opportunity to let Web Site Project Coordinator Scott Holmes and the rest of our staff know what kinds of additional resources you'd like to see as ARC grows and matures.

Copyright © 2001 Great Smokies Diagnostic Laboratory