March 14, 2017

A new study published in Springer’s Journal of Autism and Developmental Disorderclaims that children diagnosed with Autism could be misdiagnosed.

The research claims that Autism is often mistaken for a genetic condition called 22q11.2 deletion syndrome. The symptoms of delayed development and key developmental markers such as speech and facial recognition is impaired.

The research conducted by the Mind institute at UC Davies say that the finding is important because treatments commonly used for children diagnosed with Autism would not work effectively on those with the deletion syndrome. These treatments include social interaction training, which exacerbates stress and anxiety in deletion syndrome sufferers.

It was previously thought that almost 50 pc of children with the deletion syndrome also have some form of Autistic Spectrum disorder, which makes diagnosis more difficult if not following a strict criteria test which is widely available.

The research looked at children who had been diagnosed with deletion syndrome and using rigorous gold standard diagnostic criteria. It found that none of the children diagnosed with deletion syndrome met the criteria set out for Autistic children.

Kathleen Ankustsiri, lead author and researcher said:

” None of the children we tested met the criteria for Autism. This is very important because the literature cites rates of anywhere from 20 to 50 percent of children with the disorder also have an autism spectrum disorder. Our findings lead us to question whether this is the correct label for these children who clearly have social impairments. We need to find out what interventions are most appropriate for their difficulties.”

The researchers chose 29 children, 16 boys and 13 girls, administrating two tests, and used the Autism Diagnostic Observation Schedule (ADOS) on the children. Prior studies have only used parent report methods and the Social Communication Questionnaire (SDQ) .

Only five children scored in the elevated ADOS range  and only two scored above average on any of the SDQ questions.

Institute director, Tony J. Simon said:

“Over the years, a number of children came to us as part of the research or the clinical assessments that we perform, and their parents told us that they had an autism spectrum diagnosis. It’s quite clear that children with the disorder do have social impairments. It did seem to us that they did not have a classic case of . They often have very high levels of social motivation. They get a lot of pleasure from social interaction, and they’re quite socially skilled”

A further study is planned to look into the finding further and examine diagnosis methods to help minimise misdiagnosis of the two disorders.

About the author 

Shân Ellis

Shân Ellis, is a qualified journalist with five years experience of writing features, blogging and working on a regional newspaper. Prior to working as a journalist, she was a ghost writer for top publishers and was closely involved in the editing and development of book series. Shân has a degree in the sciences, and 5 A levels. She lives in the UK and is the mother of an autistic child.

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