Clinical criteria for autism diagnosis inadequate for some people

London, Jan 2 : People with certain genetic conditions are likely to have significant symptoms of autism such as social and communication difficulties or repetitive behaviours, even if they do not meet all diagnostic criteria, says an international study.
The study by researchers at Cardiff University suggests that clinical services need to adapt so that people diagnosed with autism-linked genetic conditions are not denied access to vital support and interventions.
Published in The American Journal of Psychiatry, the 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 — 22q11.2 deletion, 22q11.2 duplication, 16p11.2 deletion and 16p11.2 duplication.
Copy number variants happen when a small section of a person’s DNA is missing or duplicated. Certain CNVs have been linked to a range of health and developmental issues. They can be inherited but can also occur at random.
The results showed a high prevalence of autism in individuals with these four genetic conditions, ranging from 23 per cent to 58 per cent.
The prevalence of autism in the general population is one per cent.