New research suggests that Phelan-McDermid syndrome (PMS), a genetic disorder strongly associated with autism, may be much more common than previously believed. Researchers at Mount Sinai estimate that around 1 in 7,300 people may have the condition, potentially meaning more than 45,000 people in the USA are affected.

PMS is caused by a deletion or mutation involving the SHANK3 gene on chromosome 22. It can result in intellectual, behavioural and medical difficulties, and most people with PMS also meet the criteria for autism spectrum disorder (ASD). Changes involving SHANK3 may account for up to 1% of ASD cases.

Researchers analysed genetic data from almost 180,000 autistic people across ten different sources. They suggest that many cases remain undiagnosed because genetic testing is not always offered or may not adequately assess the SHANK3 gene.

This has important implications for genetic explanations of behaviour and precision medicine. Identifying a genetic cause may allow individuals to access specialist support, research studies and clinical trials. Several potential treatments for PMS are now being investigated.

The findings highlight how advances in genetic testing can improve understanding of the biological factors associated with autism and potentially lead to more targeted treatments.

https://www.sciencedaily.com/r...

1. Why might Phelan-McDermid syndrome have been underestimated in the past?

2. How could genetic testing benefit individuals with Phelan-McDermid syndrome?

3. What does this research suggest about the relationship between genetics and autism?