Published: 03rd January 2021
1 of 4 genetic conditions put people at autism risk, even if they don't meet diagnostic criteria: Study
The international study analysed data from 547 people who had been diagnosed with one of four genetic conditions, also known as copy number variants (CNVs), associated with a high chance of autism
New research has revealed that people with certain genetic conditions are likely to have significant symptoms of autism, even if they do not meet all diagnostic criteria. More than half of individuals with one of four genetic conditions had significant autistic symptoms, despite not qualifying for formal diagnosis, said researchers from Cardiff University. The findings, published in The American Journal of Psychiatry, show clinical services need to adapt so that people diagnosed with autism-linked genetic conditions are not denied access to vital support and interventions.
"Although many of those who were included in this study would not have met all of the criteria which define someone as having autism, more than half of those with these genetic conditions had significant symptoms associated with it - such as social and communication difficulties or repetitive behaviours," explained Dr. Samuel Chawner, based at Cardiff University's MRC Centre for Neuropsychiatric Genetics and Genomic.
The international study analysed data from 547 people who had been diagnosed with one of four genetic conditions, also known as copy number variants (CNVs), associated with a high chance of autism. The results showed a high prevalence of autism in individuals with these four genetic conditions, ranging from 23 per cent to 58 per cent. Using clinical cut-offs, the team also found 54 per cent of people with these genetic conditions who did not meet full autism diagnostic criteria nonetheless had elevated levels of autistic symptoms. "There was also considerable variability in symptoms of autism between those who had the same genetic condition".
"Sadly, many families we have met through doing this research describe long-standing struggles in accessing autism support for their child. This is often due to a lack of integration between genetic testing services and autism diagnosis services," Chawner noted. It is estimated that 15 per cent of autistic people and 60 per cent of people with developmental delay have a genetic condition. Low awareness of genetic conditions can also be a barrier. "It is important that clinicians are aware of the risk of autism associated with certain genetic conditions in order to improve opportunities for early diagnosis and support," the study noted.