Genetic Mutations Found in Specific Functional Groups of Autistic Children

As the rate of autism increases – up to 1% of the population in some areas – scientists are pushing even harder than ever to find a possible link in the wide array of autistic individuals. This may help them detect autism in children sooner, help create better therapy programs and may even help them create drugs that can help alleviate some of the symptoms often associated with autism – social deficits, repetitive behaviors and language impairments being the most common.

Researchers have known for quite some time that autism has a strong genetic basis. Unfortunately, all efforts to identify the genes responsible for autism have provided very little insight to the condition. Right now, all that is really known is that autism is influenced by a large array of genes, which explains why autism can look very different from one individual to the next as well as why researchers have had such a difficult time finding the common denominator in autistic individuals. All of this may be changing, however, thanks to a new study.

Conducted by Hebrew University in Jerusalem, researchers attempted to find general pathways involved in autism, focusing on gene collections, rather than specific genes. What they found was that, while gene mutations for autistic individuals can vary widely, all of the different genes tend to affect the same specific process in the brain. This may explain why symptom similarities exist among most autistic individuals, despite the fact that not all autistic individuals suffer from the exact same symptoms or to the same degree.

During the study, researchers also found thousands of common gene variants frequently found in autistic individuals, and each mutation or variation was found within specific functional groups. This applied whether the autism was a sporadic case (just one autistic individual known to the family) or multiplex cases (in which there was a family history of autism). They also discovered that these groups of genes are highly active during the first year of life and that those groups were involved in learning, sensory perception and memory.

While the information is still very raw and unusable, the Hebrew University scientists may very well be onto something. With their work, they may be able to conduct larger-scale genetic scans to continue gathering more evidence, possibly producing an earlier, more effective method for testing young children for autism. Overall, it could help improve the lives of autistic individuals. Parents could learn how to parent their autistic child sooner. Schools could know at primary grade levels that the child needs special care. And therapies may be made available sooner, which could help improve their level of functionality.

Related Articles:



About the author


Kate Givans is a wife and a mother of five—four sons (one with autism) and a daughter. She’s an advocate for breastfeeding, women’s rights, against domestic violence, and equality for all. When not writing—be it creating her next romance novel or here on Growing Your Baby—Kate can be found discussing humanitarian issues, animal rights, eco-awareness, food, parenting, and her favorite books and shows on Twitter or Facebook. Laundry is the bane of her existence, but armed with a cup of coffee, she sometimes she gets it done.

Leave a Comment