Will the Real Autism Stand Up?—Misdiagnosing Genetic Disorders as Autism

Autism has become a highly diagnosed condition in recent times.  It is so common to identify a child as autistic that some genetic disorders are being misdiagnosed.  It is important for healthcare officials to detect autism early so that interventions can begin promptly.  But the wrong diagnosis can lead to interventions that may delay improvement in the appropriate condition.

Imagine if you will a parent who has entered her pediatrician’s office.  She already knows that her child has the genetic disorder known as 22q11.2 deletion syndrome, a condition that is just as common as Down syndrome.  She is familiar with the problems of her child’s heart, palate, immune system, kidneys, and growth. The mother explains how her child acts differently.  She cannot pinpoint specifically what it is, but her child does not interact with others well.

The physician asks the concerned parent to complete a Social Communication Questionnaire (SCQ).  This test screens for communication and social functioning.  The results come back as diagnosing her child with autism.  But is this the correct diagnosis?

Researchers from the MIND Institute at theUniversityofCalifornia,Davisdo not think so.  They conducted a research study of 29 children recruited from the Cognitive Analysis and Brain Imaging Laboratory (CABIL) website.  They administered the SCQ and another screening tool, the Autism Diagnostic Observation Schedule (ADOS).

The results showed that the researchers were correct.

“From the ADOS diagnostic tool, only 5 of the 29 children reported elevated scores, and 4 out of these 5 showed significant symptoms of anxiety.  Only 2 of the 29 children had elevated scores in the SCQ test.”


These results refute the research literature that states children with 22q can also be autistic.  The researchers of the study found that these children interact differently in social settings than autistic students.  When motivated, they communicated with others.


So the focus needs to be on “improving communication skills, treating their anxiety and helping them remain focused on tasks.”

More research studies like the one done at the university would stop the misdiagnosis of children with this genetic syndrome.


*“Genetic disorder 22q could be misdiagnosed as autism.”  Medical News Today.  September 20, 2013. http://www.medicalnewstoday.com/articles/266320.php



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