Children with several genetic conditions may need support for autism – even if the condition is not fully diagnosed, according to a new study by researchers in Cardiff.
The researchers at Cardiff University, UK, say that their patients may often be denied the help they need for autism-related problems because they do not meet the full diagnostic criteria and the problem is masked by other symptoms of their genetic diseases.
According to the study, children with four copy number variants are highly likely to be autistic. These are 22q11.2 deletion, 22q11.2 duplication, 16p11.2 deletion and 16p11.2 duplication.
The found the prevalence of autism ranging from 23% to 58% among these patients – and 54% with “elevated levels of autistic symptoms.”
The findings have been published in the American Journal of Psychiatry and involved study of 547 patients. The researchers cite the case of Hermione, aged 16, who was diagnosed with 22q.11.2 deletion when she was four because she had a cleft palate. She was diagnosed with autism at the age of 15.
Researcher Dr Samuel Chawner said: “Our study shows that an individualised approach is needed when assessing the needs of people with genetic conditions. 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.
“There is a danger that being too prescriptive with how autism is diagnosed will result in these individuals slipping through the net and being denied important services. Sadly, many families we have met through doing this research describe longstanding 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.
“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.”
A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants. American Journal of Psychiatry 1 January 2020
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