Early diagnosis

We have played a major role in a large international study that identified 38 novel genes for autism and intellectual disability, raising hopes for more accurate diagnoses and earlier interventions.

As with many conditions, the earlier diagnosis and intervention can take place, the sooner those affected—and their families—can adapt, develop appropriate learning strategies and coping mechanisms, and connect with support networks.

Historically, early diagnosis hasn’t been easy. In fact, it’s thought more than 50 per cent of individuals with autism or intellectual disability do not currently have a precise diagnosis.

Recent international research has taken a big step towards improving this situation. A consortium, which comprises researchers from 15 genetic research centres, across seven countries and five continents, has identified 38 novel autism and intellectual disability genes, and reaffirmed the importance of 53 others.

“We’re hopeful this can really improve opportunities for accurate diagnoses and early interventions,” says lead University of Adelaide researcher Jozef Gecz.

“Our findings open up the possibility of using DNA-sequencing technologies to search for these genes in individuals with undiagnosed autisms and intellectual disabilities all over the world. Precise and early diagnosis will also allow families to better anticipate the needs of their children and guide early learning and social supports.”

The international team, led by the University of Washington’s Professor Evan Eichler, assessed DNA from more than 11,730 patients, of which 2,383 were from South Australia. Of the 38 newly identified genes, eight were specifically linked to patients with autism, 17 with intellectual disability, and the remainder with both.

This new knowledge of the genetic architecture of these disorders will also facilitate multiple other advances, says Professor Gecz. “For example, it will lead to new approaches to correct the function of these genes, or minimise the collateral damage their malfunction has on the young, developing brain.

“It will facilitate implementation of more precise and comprehensive tests for families, and help with future reproductive decisions. It will also help to improve our understanding of the fundamental processes of learning, memory and behaviour.”

An important accompanying step, he stresses, will be further research to also identify the non-genetic, environmental factors that often partner with genetic mutations to cause disability.

“There may even be factors that prevent individuals who have mutations in these genes from actually having autism or intellectual disability. So looking for these ‘safeguards’ and ‘accomplices’ is very important.”