Re: Genetic vs Environmental Autism

[Guest guest]

Hi . I enjoyed reading this post from you. Do you mind if I forward it to my sister-in-law who is also interested in this type of information?Thanks a bunch!Sent from my iPhone

Sorry for lurking and not posting in awhile, but I can help with the questions on this topic around Geraldine and others' post based on my own research and I have worked in the molecular genetics field my entire career.

Approximately 10-15% of all cases of ASD are thought to be genetic, also called 'congenital' in that the child was born with this disorder. Frequently, physicians will first do a blood test for Fragile x syndrome which is the most common cause of genetic autism. If that is negative, sometimes they will order a karyotype/microarray to look at other chromosomal abnormalities. These were both negative on my son.

Emory Genetics lab is one of the best for this test- it cost $2000 and not sure if it is covered by all insurance.

http://genetics.emory.edu/egl/tests/?testid=42

It is true that Autism Speaks funds quite a bit of genetic research to the frustration of many in our community who believe their child has environmentally induced autism (vaccines, toxins, etc.) However, that is where the research is being primarily funded through the governmental agencies and public health laboratories because there is very little understanding about environmental causes of autism. This is changing, and discussed at IACC sub-committee meetings. Also, look at the ten year EARLI study in process looking at environmental causes of autism which I believe Autism Speaks is also funding:

http://www.earlistudy.org/

The research is shifting to look at more epigenetics (environment + genetics) and I know this cannot happen soon enough for many of us but we can thank the cancer community for pushing epigenetic research. Up to 90% of cancers are thought to be caused by environmental factors, and 1 in 4 Americans will develop cancer in their lifetime, but why do some people get cancer and some don't? In the study of epigenetics, we find that genes can be affected by environmental toxins, and Dr. Bock and others acknowledge the past 50 years of industrialization in our country may have led to future generations of sick kids since 1 in 4 children have allergies, asthma, ADD or autism. Think of all the plastics and pesticides introduced in the 60s which are still showing up in cord blood for babies born today along with about 600,000 other chemicals.

If you are new to the journey, don't get overwhelmed with too much science but find a doctor who can help you with a diagnostic and treatment roadmap for your child. Unfortunately, not all of our kids fit into one category. Sometimes, your child may need a specialist depending on the exact diagnosis and symptoms. Some children have severe immune dysfunction, some have severe heavy metal toxicity (my son) and some have gut dysfunction. You need a doctor who can heal the immune dysfunction and not just treat symptoms. For example, we met several doctors who just wanted to do long term chelation on my son but none of them attempted to heal his immune system which was why he was not able to clear metals. Once we healed his immune system, he began clearing metals independently and began speaking for the first time in 7 years.

For the genetic autism 'rule in and rule out,' you can start with the Fragile x and microarray. Keep in mind, all the genes may appear normal on the microarray but still they may not function or be expressed properly. Genes control proteins and in my son's case his gene (GSTM1) which makes glutathione was not functioning properly so he could not clear toxins from his liver.

He presented with low homocysteine and low glutathione levels.

You cannot treat genes, but you can treat protein dysfunction often with supplements. This is how many of the congenital newborn defects are treated with lifelong nutritional supplementation for whatever the child is not producing.

If you are curious what defects your child may have been screened for by the Texas Department of Health at birth, here is a list:

http://genes-r-us.uthscsa.edu/nbsdisorders.htm

Parents are notified within two weeks of any abnormality or if testing is normal. Many of these genetic disorders are treatable if discovered in newborns.

Next, you need to look at your child's immune function and methylation function (how they clear toxins). Some of the diagnostic tests to do this can be found in the article I co-wrote with Dr. for Autism File.

http://www.autismone.org/content/utilization-laboratory-biomarkers-predict-and-prevent-neuroimmune-disorders-caused-environme

Also, you may want to look at neuroinflammation on Sensory View platform (available in Austin, Dallas and Houston) which is FDA cleared and covered by most insurance.

For children with lethargy and low muscle tone, also consider mitochondrial dysfunction and disease (they are different conditions). Dr. Frye in Houston is a subject matter expert on this.

Hope this helps,