Rare Autism-Linked Disorder May Be More Common Than Thought

Topic: Health

Scientists at Mount Sinai found that Phelan-McDermid syndrome may affect 1 in 7,300 people. They used data from nearly 180,000 people with autism to estimate the prevalence of the condition.

Phelan-McDermid syndrome (PMS) is a rare genetic disorder caused by a deletion or mutation involving the SHANK3 gene on chromosome 22. It can lead to various medical, intellectual, and behavioral challenges. Most people with PMS also meet the criteria for autism spectrum disorder.

A team of scientists at Mount Sinai's Seaver Autism Center for Research and Treatment led an investigation into the prevalence of PMS. They worked with genetic testing laboratories, academic medical centers, and autism research programs to gather data from nearly 180,000 people with autism who had undergone genetic testing. The researchers combined information from ten separate sources, including GeneDx, Labcorp, Ambry Genetics, and several major children's hospitals.

After accounting for undiagnosed cases, limits in genetic testing, and people with PMS who do not meet the criteria for autism, the team estimated a prevalence of 13.7 cases per 100,000 people. This works out to about 1 in 7,300 individuals. The estimate represents a major change from previous figures and suggests that more than 45,000 people in the United States could be living with PMS.

The researchers say broader access to genetic testing could help identify people who currently have no diagnosis. They recommend that every child with autism undergo genetic testing, as it can provide valuable information for potential therapies.

Why It Matters

This study is important because it highlights the need for better access to genetic testing and diagnosis for individuals with autism. In India, where autism cases are rising, this research can inform policies and programs aimed at improving early detection and treatment.

Key Facts

• Phelan-McDermid syndrome (PMS) is a rare genetic disorder that affects about 1 in 7,300 people.
• The condition is caused by a deletion or mutation involving the SHANK3 gene on chromosome 22.
• Most people with PMS also meet the criteria for autism spectrum disorder.
• The researchers used data from nearly 180,000 people with autism to estimate the prevalence of PMS.
• Broader access to genetic testing could help identify people who currently have no diagnosis.

Key Terms

SHANK3 gene

A gene on chromosome 22 that is involved in brain development and function.

Phelan-McDermid syndrome (PMS)

A rare genetic disorder caused by a deletion or mutation involving the SHANK3 gene.

Implications

This study is important because it highlights the need for better access to genetic testing and diagnosis for individuals with autism. In India, where autism cases are rising, this research can inform policies and programs aimed at improving early detection and treatment.