Specific Genetic Disorders / Stats on Autism

Help with “untangling” the Autism ASD mess!

Autism IS NOT a definable disease, illness or disorder. It is a vast array of “symptoms” (behaviors) that are lumped together under THE LABEL of AUTISM SPECTRUM DISORDERS.

Individual infants, children and adults may have “behaviors” listed as symptoms: whether or not each person is “diagnosed” is dependent on chance (country, location, social status, financial resources, gender, race, culture, religion) subjective opinion, social pressure, parental observation, and the qualifications of the person tasked with “diagnosing Autism”. Too many children are diagnosed based only on school-parental “reports” without the child ever being examined by a medical doctor or psychiatrist – or by anyone!

This graph (estimates) the percentage of people who have a specific genetic disorder, who also (supposedly) “have autism” – this is not only bizarre; it’s confusing. If a person has a “genetic disorder” that is known to “cause” specific developmental problems, then why would the “behavior symptoms” not be “part of” that diagnosis? Why would a separate diagnosis of autism be applied, when autism is NOT a single disorder, but a “slapped together” list of symptoms that may have no correlation to each other (from person to person) in terms of origin, cause or pathologic result?


Graph is not from this article.


From National Institute of Neurological Disorders and Stroke: Autism Spectrum Disorders Fact Sheet

What disorders are related to ASD?

Certain known genetic disorders are associated with an increased risk for autism, including Fragile X syndrome (which causes intellectual disability) and tuberous sclerosis (which causes benign tumors to grow in the brain and other vital organs) — each of which results from a mutation in a single, but different, gene. Recently, researchers have discovered other genetic mutations in children diagnosed with autism, including some that have not yet been designated as named syndromes. While each of these disorders is rare, in aggregate, they may account for 20 percent or more of all autism cases.

People with ASD also have a higher than average risk of having epilepsy. Children whose language skills regress early in life — before age 3 — appear to have a risk of developing epilepsy or seizure-like brain activity. About 20 to 30 percent of children with ASD develop epilepsy by the time they reach adulthood. Additionally, people with both ASD and intellectual disability have the greatest risk of developing seizure disorder.

This description essentially says that “autism” (a bag of behaviors with no identified cause) causes epilepsy, a known brain disorder.  

Or could it be the other way around? That epilepsy causes “symptoms and disabilities” that are mis-diagnosed as “autism”? That epilepsy or a genetic disorder may go unrecognized because no medical or genetic testing is done? 


Table of Contents (links are active)

What is autism spectrum disorder?
What are some common signs of ASD?
What disorders are related to ASD?
How is ASD diagnosed?
What causes ASD?
What role do genes play?
Do symptoms of autism change over time?
How is autism treated?
What research is being done?
Where can I get more information?


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