Genetic Variation and The Diverse Range of Behaviors in Autism

Author: Society for Neuroscience
Published: 2022/11/10
Contents: Summary - Main - Related Publications

Synopsis: Research in human and animal models points to potential biological and genetic mechanisms contributing to the diversity of behaviors seen in autism. Autism spectrum disorders are a diverse group of disorders characterized by different genetic variations influencing brain development. Natural genetic variability in the human population may lead to the spectrum of behaviors associated with autism diagnosis and contribute to differential rates of diagnosis and symptomology in males and females.

Main Digest

Research in humans and animal models points to potential biological and genetic mechanisms contributing to the diversity of behaviors seen in autism. The findings were presented at Neuroscience 2022, the annual meeting of the Society for Neuroscience and the world's largest source of emerging news about brain science and health.

Autism, also referred to as Autism Spectrum Disorder constitutes a diverse group of conditions related to brain development. According to the Centers for Disease Control and Prevention, approximately 1 in 44 children in the U.S. is diagnosed with an autism spectrum disorder, with the diagnosis being four times more common in boys than girls. New research offers a better understanding of how natural genetic variation impacts brain development, gives rise to the spectrum of behaviors associated with autism and may contribute to more individualized approaches for supporting people with autism.

New findings show that:

"Studies like those presented today confirm that autism is driven by sources of genetic variation that naturally exist in the human population," says Nicola Grissom, an assistant professor of psychology at the University of Minnesota who studies individual and sex differences in motivated behavior and executive function in mouse models. "A better understanding of the genetic components of autism, and appreciation of the neurodiversity occurring naturally among people, may help combat the stigma that still exists around autism."

Press Conference Summary

Defining Patterns of Sex-Differential Expression in the Human Cortex During Prenatal Development and the Intersections With Autism Spectrum Disorder

Donna Werling,, abstract 176.05

Researchers analyzed prefrontal cortex tissue, a brain region important for complex cognitive functions, from 85 prenatal donors from the BrainVar data set and identified genes with different expression levels and relationships with other genes between males and females.

The cortices of males and females have largely similar gene expression patterns, but subsets of genes show relatively higher expression in either males or females.

Genes expressed prenatally at a higher level in the cortex of males than females overlap with a set of genes that are elevated in the autistic brain and involved in immune processes. This suggests that sex-differential regulation of immune-related functions in the developing brain may contribute to the male bias in autism prevalence.

Mapping Autism Spectrum Disorder Behavioral Endophenotypes to Genomic Regions in Thousands of Families

Nathaniel Stockham,, abstract 176.01

Researchers studying families with children with autism spectrum disorder created a statistical model that maps clusters of autism-related behaviors to genome segments. They applied this model to genomic and behavioral data from nearly 2,000 families from two large autism spectrum disorder cohorts (AGRE/iHART and Simons SPARK).

In both cohorts, the strongest map by far was between autism-related social interaction difficulties and chromosome 15.

Mutation in a subsegment of chromosome 15 is also known to cause two rare genetic disorders, Angelman and Prader-Willi Syndromes. Both disorders have considerable behavioral overlap with autism spectrum disorder, suggesting these syndromes could share some molecular mechanisms.

Mapping the Neuroconnectional Landscape in Autism via Cross-Species fMRI

Marco Pagani,, abstract 604.08

Researchers compared patterns of brain activity in 19 mouse models with genetic mutations associated with autism with those obtained in more than 2,000 humans with autism.

In mice, genetic variations associated with autism produced diverse changes in brain circuits. Despite this, two dominant patterns of altered brain activity were recognizable: one was characterized by over-communication among brain regions and the other by under-communication.

In line with mouse investigations, researchers found two dominant groups of individuals with autism showing patterns of brain over- and under-communication, respectively, a finding that was also replicated in an independent collection of human brain scans.

The two altered brain activity patterns were linked to the expression of dissociable sets of genes dysregulated in autism. This suggests that the biological bases of the two patterns could be different. The findings support the notion that there is no unique brain connectivity signature for autism spectrum disorder.

This research was supported by national funding agencies, including the National Institutes of Health and private funding organizations.


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