According to a recent article in PsychCentral, a rare genetic disorder called 22q11.2 deletion syndrome (22q) is very often misdiagnosed.
A study shows that social impairment is the most common cause of these incorrect diagnoses. It is prominent in 22q as well as autism. However, children with either disorder also present with delays in their development.
This study is a “first” in examining children with the 22q who are suspected of having autism according to strict diagnostic criteria. The study can be found in the Journal of Autism and Developmental Disorders.
A Critical Finding
The surprising results were that not one of the children diagnosed with 22q qualified under the diagnostic criteria as having autism.
Yet fifty percent of parents of children with the 22q reported that their children had autism.
The study results will have an impact on the therapy used to treat autism.
Anxiety is a common symptom among these children and it is thought that the therapy, called discrete-trial training, could be increasing their state of anxiety.
Expert Recommendations
It is suggested that decisions for appropriate treatment should be guided by evaluating symptoms. The most common symptoms found in 22q are various degrees of cardiac anomalies, head, neck, or palate malformations, and weakness of the immune system.
As noted previously the children are known to have severe anxiety, generally low IQs, and are socially awkward.
The lead author of the study again emphasized that the researchers were unable to find children who met the strict criteria of autism spectrum disorder (ASD).
Again, this is a very important finding because it is contrary to data that cites that between twenty to fifty percent of children diagnosed with the 22q may also have ASD. The study casts doubt on those numbers.
The researchers acknowledge that these children do have social impairments, but a more appropriate treatment must be found.
More About 22q11.2 (22q)
The name of the disorder originates from its location which is the 22nd chromosome. The syndrome was originally called “Velocardiofacial” then named “Di George” for the endocrinologist who identified it.
The risk of acquiring 22q stands at about one in 2000 and presents an even higher risk for patients to develop serious mental health issues such as schizophrenia.
Dr. Tony Simon, a director at the MIND Institute, points out that by studying children with the 22q deletion throughout their childhood, researchers may be able to protect children against later developing psychiatric illnesses.
It is noteworthy that parents of 22q children often refer to their children as seeming “different” from most autistic children. The team at the MIND Institute recognizes that these children are in fact socially awkward but they still react differently from children with ASD.
A Test Within a Test
In an effort to test how a group would actually meet the criteria for classic autism, researchers selected twenty-nine children from a larger study and administered two tests.
The first test (ADOS) administered to the children is considered the gold standard test for autism. The second test (SCQ) was used as a screening tool for their parents.
Results showed that only five of the twenty-nine children tested high on the ADOS test. Four of those children exhibited extreme anxiety. None of the children qualified as having ASD.
Other Options
When looking back over the children who were brought to the Institute after being diagnosed with autism, Dr. Simon and his team found that in most cases the children did not fit the classic ASD model.
They observed that the social deficits the children displayed may be attributed to developmental delay or intellectual disability rather than autism.
Armed with new information from their study, the researchers are ready to enter a new phase of treatment that they believe will be more effective.
