Monthly Research Updates

researchScientists and researchers are constantly uncovering more information related to autism, offering insights into the origins, possible causes and even at times potential cures. I come across dozens of articles on a weekly basis, some of which seem more important than others. I thought I would share on a monthly basis stories that caught my eye.


Large study shines spotlight on ‘mosaic’ mutations in autism

About 8 percent of de novo, or non-inherited, mutations in people with autism appear in only some of the body’s cells, according to an analysis of sequences from nearly 20,000 people. Previous studies missed the vast majority of these so-called ‘mosaic mutations.’ The findings add to mounting evidence that mosaic mutations contribute to autism risk. These mutations arise after conception; the later they occur, the fewer cells they affect.

Read the full article here.

Rethinking regression in autism

Epidemiological studies have found that anywhere from 15 to 40 percent of autism diagnoses fit the regressive type, with estimates varying wildly depending on how regression is defined. And regardless of the definition, estimates of regression’s prevalence (mainly as measured in the United States) have tended to rise as studies have become larger and more rigorous. This variability and expansion have both challenged the prevailing view of regression as an exception.

Read the full article here.

Mice made with CRISPR usher in new era of autism research

Researchers have debuted two mouse models of autism made using the gene-editing tool CRISPR. Both strains lack one functional copy of CHD8, a gene with strong ties to autism. CRISPR allows researchers to quickly and efficiently insert specific mutations into single-cell mouse embryos. Several teams have used the method to make mouse models for other conditions, including Rett syndrome, an autism-related condition. The new mice represent the first use of the method to make models expressly for autism.

Read the full article here.

MRI reveals striking brain differences in people with genetic autism

In the first major study of its kind, researchers using MRI have identified structural abnormalities in the brains of people with one of the most common genetic causes of autism, according to a new study published online in the journal Radiology. The abnormalities visible on brain images corresponded to cognitive and behavioral impairments in the study group, suggesting a future role for imaging in identifying people with autism who are in most urgent need of intervention.

Read the full article here.

Tune in next month for an update on autism research! Merry Christmas!

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