Scientists have uncovered dozens of genetic traits that could pinpoint who is at risk of developing autism.
In one of the largest studies of its kind, researchers in New York analyzed genetic data from more than 15,000 people across North, Central and South America, including 4,700 individuals who had autism.
They linked 35 genes to the condition, a development that the team said could provide a ‘road map’ for diagnosis.
The genes were not new, but unlike in other studies that focused on Europeans, the scientists analyzed data from people of Latin American ancestry — a genetically diverse group made up of indigenous American, West African and European genetics.
They said the results offered new insights into the genes that were linked to autism in non-European populations, helping doctors to detect the condition.
Autism is normally diagnosed via an in-person evaluation, but genetic tests may also be ordered to detect autism-linked genetic changes or to rule out other conditions.
Dr Joseph Buxbaum, an autism expert at Mount Sinai who was involved in the research, said: ‘Our results indicate that the core genetic architecture of autism is shared across ancestries.
‘This suggests that the biology underlying autism is universal and reinforces the importance of ensuring that diverse populations are represented in genetic research.’
Scientists have linked 35 genes that were significantly associated with autism (stock image)
He added: ‘These findings provide a road map for improving genetic diagnosis across ancestral groups.
‘Expanding genomic research in under-represented populations is essential to reducing health disparities and advancing precision medicine for autism and related conditions across all ancestral populations.’
For the paper, published in Nature Medicine, scientists analyzed data from the Genomics of Autism in Latin American Ancestries (GALA) Consortium, a research initiative compiling genetic data on Latin American individuals.
Participants were diagnosed with autism based on expert clinical evaluations that used the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5).
This issue, the latest and which sets the standard for diagnosing autism spectrum disorder, defines the condition as when an individual has persistent trouble communicating and interacting with others.
It includes deficits in social-emotional responses, such as failing to respond to their name, nonverbal communicative behaviors, such as avoiding eye contact during a conversation or lacking facial expressions, and developing, maintaining and understanding relationships, such as difficulties in sharing in imaginative play.
Experts say the definition includes people suffering from classic autism, who have severe communication difficulties, as well as those with Asperger’s Syndrome, where individuals have good language skills but struggle with social cues, and struggle with milder communication difficulties.
From the dataset, researchers extracted and analyzed information on 18,000 genes.
Overall, they detected patterns that led them to link changes in 35 genes to a higher risk of being diagnosed with autism.
These genes tended to be linked to how the brain functions. In many cases, these were genes that rarely changed across populations over time.
Among them were PACS1, which codes for a protein that facilitates transport in the brain, and YWHAG, which codes for a protein vital for brain development.
The above is a map of the collection sites used in the study
Scientists said the results helped to close a research gap. Only a few studies have analyzed genes linked to autism in non-European groups.
Autism rates have surged in the US in recent years, with an estimated one in 31 children now suffering from the condition compared to one in 150 in 2000. Overall, 5.4 million Americans are estimated to be living with autism.
It isn’t clear what’s behind the rise, but experts say it has been driven by raised awareness and the definition of autism being expanded to include other milder cases of communication problems.
There is no cure for autism. Treatment involves supporting a patient’s learning, development and behavior.
Experts say early diagnosis and treatment can help patients to learn critical social, communication and behavioral skills.
