Children with 22q misdiagnosed for autism, further studies required to find the right treatment

Children who suffer from a condition known as 22q11.2 might be misdiagnosed for autism, according to a study published in the Journal of Autism and Developmental Disorders.

Authors of the study concluded that these two conditions were very different and needed to be treated so, in saying, “The results of our study show that of the children involved in our study, no child actually met strict diagnostic criteria for 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.”

In fact, the study itself, conducted at the MIND Institute at the University of California by researchers found that the reason why these two disorder were confused with is because the developmental delay stemming from social impairment tend to ‘mimic’ the features of autism.

The recruiters found 29 children from the Cognitive Analysis and Brain Imaging Laboratory to take two tests: the Autism Diagnostic Observation Schedule as well as Social Communication Questionnaire.

5 children had high scores in the ADOS test while 2 of them did well in the SCQ test but none of them scored well in both, which would lead to a diagnosis of autism spectrum disorder.

Researchers believe that further studies will be required so as to determine appropriate treatments for children with the 22q11.2 disorder.

With effects of the disorder being palate differences, immune system deficits, heart defects, growth delay and kidney problems, the 22q deletion disorder occurs due to a missing section of chromosome 22. This disorder occurs in 1 in 2000-4000 births and is as common as Down syndrome.