Study: Chromosome change points to autism


By Amanda Chan, MyHealthNewsDaily Staff [email protected]

People who possess a specific change in one of their chromosomes are nearly 14 times more likely to develop an autism spectrum disorder or schizophrenia than those without this change, according to a new study.

The change, which is called a deletion, happens when a section of chromosome 17 is missing. The deletion is found only in people who have an autism spectrum disorder, a developmental delay or schizophrenia, said study researcher David H. Ledbetter, a genetics professor at Emory University.

“This is just adding one more to that rapidly growing list of genetic mutations” associated with autism that doctors could use to measure autism and schizophrenia risk in children, Ledbetter told MyHealthNewsDaily.

Not all people with autism, a developmental delay or schizophrenia have this deletion. But all people who have the chromosome change will develop some form of the disorders, whether it’s mild or strong enough for a diagnosis, he said.

Schizophrenia and autism are separate disorders, but other recent research has also shown the two have genetic similarities.

“At least in a subset of autism and a subset of schizophrenia, the same [genetic changes] play a major role in both,” Ledbetter said. “It will be interesting in the future, because we’ll have the ability to identify this type of deletion in young children, and follow them to figure out why some of them do develop autism and some don’t.”

The new study was published today (Nov. 4) in the American Journal of Human Genetics.

Detecting the deletion

Researchers looked in a genetic database of 15,749 people with a developmental delay, intellectual disability or an autism spectrum disorder.

They found 18 of these people had the deletion on chromosome 17. But not one of the 4,519 healthy people tested had the deletion, according to the study.

Researchers tracked down nine of the 18 people in the database with the genetic deletion. All nine had cognitive impairments, and six of them had autism, the study said.

To confirm these findings, researchers looked at two other databases that had genetic information for 7,522 people with autism or schizophrenia. They found the same deletion in two people with an autism spectrum disorder or cognitive impairment, and four adults with schizophrenia. None of the 43,076 healthy people tested had the deletion.

“That means the deletion has a major phenotypic effect,” Ledbetter said. “It can manifest as developmental delay, intellectual disability or autism, or it may not be diagnosed and recognized until adulthood when there are psychiatric manifestations that lead to a diagnosis of schizophrenia.”

In line with the research

Some of the people with the deletion also had other health problems, such as renal cysts and diabetes.

“We’re starting to appreciate now that oftentimes, when we talk about psychiatric conditions, it doesn’t really come just by itself,” said Andy Shih, vice president of science for the nonprofit Autism Speaks, who wasn’t involved with the study. “A lot of times, you see a host of other conditions that travels with autism.”

Previous work has found genes that are associated with autism, but these genes have “low penetrance” – meaning the genes were also found in people who don’t have any symptoms of autism, said Patricia Rodier, a professor at the University of Rochester School of Medicine and Dentistry.

“But in this case, it appears that virtually all of the people who have this anomaly of this gene have some symptoms,” said Rodier, who wasn’t involved with the study.

The new findings could be used in a genetic test that could help people confirm an autism or schizophrenia diagnosis, as well as determine their risk of developing one of these conditions, Rodier said. 

Related Posts
Autism is detected in the brains of six-month-old infants.
IntroductionAutism is a neurodevelopmental disorder that affects communication and social interaction. It is typically diagnosed in children around three, but research has shown that it is possible to detect signs ...
One dad shares how when working with Becky Blake his son (4) non verbal, autistic, not yet potty trained, was able to make great strides in Beckys program. To learn ...
Autism spectrum disorders are among the most heartbreaking—and mysterious—of childhood maladies. New genetic research opens a window on a possible cause
Uncovering a Common Mutation The symptoms are gradual and insidious. An infant or toddler begins to withdraw from social interaction and to take refuge in solitary, often repetitive behaviors. As the ...
READ MORE As a six-year veteran of autism, I have gained some hard-won wisdom. When my ten-year old son Clark was first diagnosed with autism, I felt overwhelmed. Slowly and with ...
This week is dedicated to autism. "Autism is a developmental disorder that appears in the first 3 years of life, and affects the brains normal development of social and communication ...
A broad spectrum of developmental and psychiatric disorders, ranging from autism and intellectual disability to schizophrenia, should be conceptualized as more
Attention Visitors!
Welcome to! Your one stop source for autism information and products to make life easier for those of us dealing with autism. We encourage you to review our products ...
A difficult dilemma
My friend has only one son, autistic, and she now wants to expand the family and bring him a brother or sister - but her husband is very much afraid ...
Autism is detected in the brains of six-month-old
boy with Autism become potty trained in 2
Happy new year
Autism spectrum disorders are among the most heartbreaking—and
Being an Advocate for your Child with Autism:
Autism: Everyday Life. Mom’s Point of View!
New genetic evidence suggests a continuum among neurodevelopmental
Good morning & Happy Christmas Eve Day! Know
Attention Visitors!
A difficult dilemma

1 thought on “Study: Chromosome change points to autism

  1. m sorry, but Jason McElwain does not have autism. He appears to have a Chromosome abnormality. This is truly sad to see how ignorant most people are in identifying authentic autism. Just a continual crisis of ignorance. Nevertheless, he is truly a handsome, intelligent and gifted young man and it’s just amazing what he’s accomplished.

Leave a Reply

Your email address will not be published. Required fields are marked *

This site uses Akismet to reduce spam. Learn how your comment data is processed.