Genomic region associated with autism plays role in specific cognitive functions

July 18, 2016, Elsevier
Credit: CC0 Public Domain

A new study in Biological Psychiatry reports that variations in 16p11.2, a region of the genome associated with risk of autism spectrum disorder (ASD), have distinct effects on cognition. The findings highlight the diversity of people with ASD.

Extra or missing copies of genetic material in a small region of the genome in chromosome 16, designated 16p11.2, increases the risk of . Known as duplications or deletions, these alterations in the 16p11.2 genomic region are also associated with .

In the first study to look at the effect of both duplications and deletions in 16p11.2 on specific cognitive domains, senior author Dr. Sébastien Jacquemont, from the University of Montreal in Canada, and a large research team assessed the effects of these variations in 62 deletion carriers, 44 duplication carriers, and 71 controls from within the same families. According to Jacquemont, determining the effect of these alterations can only be performed through family studies. The researchers used neuropsychological tests to assess overall cognitive functioning, fine motor skills, language, memory, and executive functions.

After accounting for the lower IQ associated with 16p11.2 variations, differences in specific cognitive domains emerged. Deletion carriers had difficulty with phonology, reading fluency, , and verbal and motor inhibition. Duplication carriers outperformed controls with the same IQ on tasks of verbal memory, executive functions, and phonological skills. The authors suggest this is reminiscent of the complex and conflicting association between language impairment and autism.

"These data suggest that copy number variants may generally increase risk for intellectual disability and autism, but that the particular nature of the genetic alteration may have specific functional consequences for brain and behavior," said Dr. John Krystal, Editor of Biological Psychiatry.

"Genomic variants associated with ASD may be associated with very different cognitive alterations and profiles," said Jacquemont, "and we may learn something on the developmental mechanisms involved in ASD by focusing on the cognitive comorbidities." He added that generating similar data across other regions of the genome will be essential to understand the impact of different variants on development.

The findings of the study may help better inform the type of intervention that patients will benefit from most; the authors write that the use of visuospatial processes when learning may help patients who carry a deletion, whereas verbal methods may improve learning strategies in patients who carry a duplication.

Explore further: Twenty-five-point drop in IQ caused by lack of gene copy

More information: Loyse Hippolyte et al. The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition, Biological Psychiatry (2016). DOI: 10.1016/j.biopsych.2015.10.021

Related Stories

Twenty-five-point drop in IQ caused by lack of gene copy

January 27, 2016
No autism is alike. This is also true of most mental disorders. "We now understand that each gene mutation has a specific effect, which adds to other effects to draw a unique picture of the disease in each patient," said ...

New evidence for genetic basis of autism found

October 3, 2011
Scientists at Cold Spring Harbor Laboratory (CSHL) have discovered that one of the most common genetic alterations in autism -- deletion of a 27-gene cluster on chromosome 16 -- causes autism-like features. By generating ...

Study uncovers why autism is more common in males

February 27, 2014
Males are at greater risk for neurodevelopmental disorders, such as autism spectrum disorder (ASD), than females, but the underlying reasons have been unclear. A large cohort study published by Cell Press on February 27th ...

Two research paths toward identifying schizophrenia risk genes

February 20, 2014
Schizophrenia has long been known to be highly heritable and is present in approximately 1% of the population. Researchers have been following two paths in their pursuit of identifying schizophrenia risk genes.

Gene duplications associated with autism evolved recently in human history

October 19, 2014
Human geneticists have discovered that a region of the genome associated with autism contains genetic variation that evolved in the last 250,000 years, after the divergence of humans from ancient hominids, and likely plays ...

Recommended for you

Psychiatric disorders share an underlying genetic basis

June 21, 2018
Psychiatric disorders such as schizophrenia and bipolar disorder often run in families. In a new international collaboration, researchers explored the genetic connections between these and other disorders of the brain at ...

One year of school comes with an IQ bump, meta-analysis shows

June 21, 2018
A year of schooling leaves students with new knowledge, and it also equates with a small but noticeable increase to students' IQ, according to a systematic meta-analysis published in Psychological Science, a journal of the ...

Ketamine acts fast to treat depression and its effects last—but how?

June 21, 2018
In contrast to most antidepressant medications, which can take several weeks to reduce depressive symptoms, ketamine—a commonly used veterinary anesthetic—can lift a person out of a deep depression within minutes of its ...

Mindful movement may help lower stress, anxiety

June 21, 2018
Taking a walk may be a good opportunity to mentally review your to-do list, but using the time to instead be more mindful of your breathing and surroundings may help boost your wellbeing, according to researchers.

Brain tingles—first study of its kind reveals physiological benefits of ASMR

June 21, 2018
Autonomous sensory meridian response (ASMR) – the relaxing 'brain tingles' experienced by some people in response to specific triggers, such as whispering, tapping and slow hand movements – may have benefits for both ...

New study debunks Dale Carnegie advice to 'put yourself in their shoes'

June 21, 2018
Putting yourself in someone else's shoes and relying on intuition or "gut instinct" isn't an accurate way to determine what they're thinking or feeling," say researchers from Ben-Gurion University of the Negev (BGU), the ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.