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Diagnosing Autism in Children with Down Syndrome

Autism occurs in 10-15 percent of children with Down syndrome.

Some 10-15 percent of children with Down syndrome also have autism, but diagnosis is often difficult.

Now new findings from a 16-year study published in the Journal of Intellectual Disability Research confirm that the Diagnostic and Statistical Manual of Mental Disorders (DSM), the gold-standard for the classification of mental health conditions, can be used to accurately identify autism spectrum disorders (ASD) in children with Down syndrome, according to research from Kennedy Krieger Institute.

The DSM is used by a wide range of health professionals across clinical and research settings. Previously, the diagnosis of autism in children with Down syndrome has been questioned because of the presence of cognitive impairments in these individuals. Autism-like behaviors are often difficult to differentiate from repetitive behaviors, communication difficulties, and other cognitive delays associated with intellectual disability. Because of these challenges, physicians often hesitate to diagnose ASD in children with Down syndrome, leaving them unable to receive important therapy and educational services.

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"Based on our findings, I encourage parents of children with Down syndrome who display difficulty with social interaction to ask their providers about the presence of autism or other intellectual disabilities," says Dr. Walter E. Kaufmann, senior study author and director of Kennedy Krieger's Center for Genetic Disorders of Cognition and Behavior. "Our results will significantly help clinicians in categorizing co-morbidities and support them in developing more targeted educational and intervention services for children with Down syndrome."

"The behavioral diagnosis of autism will probably always be more complicated than a simple blood test," says Kaufmann. "However, with this study, we're able to use objective analytical methods to support the accurate diagnosis of autism in children with Down syndrome so that they can receive proper treatment and care."

"The most telling result of our study is that we were not only able to clearly identify patients with Down syndrome and ASD, but also distinguish two other behavioral categories - those without major behavioral problems and those with disruptive behavior disorder (DBD), a widely recognized group among individuals with Down syndrome," says Dr. George Capone, study author and director of the Down Syndrome Clinic at Kennedy Krieger.

Capone initiated the study in 1992 when few biomedical researchers were interested in studying the connection between the two disorders. Remarkably, the parents of patients in Kennedy Krieger's Down Syndrome Clinic joined Capone in his effort by funding the study with their individual gifts. Capone recalls, "Parents would travel from around the country and the world to be seen here because few other institutions were committed to understanding this dual-diagnosis. Once we gave these families validation that their child was indeed different and required different support strategies than a typical child with Down syndrome, they wanted to help other families access this knowledge."

Kaufmann hopes that this study provides the evidence clinicians need to confidently use the DSM to diagnose ASD in Down syndrome, ensuring better outcomes for affected children and families. The findings also suggest that a strategy similar to what researchers employed in this study could be used for confirming the diagnosis of ASD in other genetic disorders.

For More Informnation:

N. Y. Ji, G. T. Capone, and W. E. Kaufmann. Autism spectrum disorder in Down syndrome: cluster analysis of Aberrant Behaviour Checklist data supports diagnosis. Journal of Intellectual Disability Research.

 

Faith Brynie, Ph.D, is a scientific and medical writer. She is the author of Brain Sense (Amacom, 2009).

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